OrphaCode,Name,DisorderType,DisorderGroup,ICD-11,MONDO,ICD-10,OMIM,UMLS,MeSH,MedDRA,GARD,DiseaseName,AgeOfOnset,TypeOfInheritance
166024,Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome,Disease,Disorder,LD24.61,0011778,Q77.3,607131,C4304500,,,,Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
166032,Multiple epiphyseal dysplasia-miniepiphyses syndrome,Disease,Disorder,LD24.61,0012254,Q77.3,609325,C5924992,C563735,,,Multiple epiphyseal dysplasia-miniepiphyses syndrome,"Childhood, Infancy",
58,Alexander disease,Disease,Disorder,8A44.2,0008752,G93.8,203450,C0270726,D038261,10083059,5774,Alexander disease,All ages,Autosomal dominant
166029,Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome,Disease,Disorder,LD24.61,0012253,Q77.3,609324,C5924993,C563736,,,Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome,Childhood,
61,Alpha-mannosidosis,Disease,Disorder,5C56.21,0009561,E77.1,248500,C0024748,D008363,10083855,6968,Alpha-mannosidosis,"Childhood, Infancy, Neonatal",Autosomal recessive
166038,"Metaphyseal chondrodysplasia, Kaitila type",Disease,Disorder,LD24.7,0009594,Q78.5,250230,C1855217,C565400,,,"Metaphyseal chondrodysplasia, Kaitila type",Neonatal,
166035,Brachydactyly-short stature-retinitis pigmentosa syndrome,Malformation syndrome,Disorder,,0009598,Q87.8,250410,C5190709,,,,Brachydactyly-short stature-retinitis pigmentosa syndrome,"Childhood, Infancy",Autosomal recessive
93,Aspartylglucosaminuria,Disease,Disorder,5C56.21,0008830,E77.1,208400,C0268225,D054880,10068220,5854,Aspartylglucosaminuria,Childhood,Autosomal recessive
585,Multiple sulfatase deficiency,Disease,Disorder,5C56.0Y,0010088,E75.2,272200,C0268263,D052517,,5061,Multiple sulfatase deficiency,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
118,Beta-mannosidosis,Disease,Disorder,5C56.21,0009562,E77.1,248510,C4048196,D044905,,869,Beta-mannosidosis,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
166068,Pontocerebellar hypoplasia type 5,Malformation syndrome,Disorder,,,,610204,C1857762,,,10709,,,
141,Canavan disease,Disease,Disorder,5C50.E1,0010079,E75.2,271900,C0206307,D017825,10067608,5984,Canavan disease,"Childhood, Infancy, Neonatal",Autosomal recessive
166063,Pontocerebellar hypoplasia type 4,Malformation syndrome,Disorder,LD20.01,0009166,Q04.3,225753,C1856974,C536716,,343,Pontocerebellar hypoplasia type 4,Antenatal,Autosomal recessive
166078,Von Willebrand disease type 1,Clinical subtype,Subtype of disorder,3B12,0008668,D68.0,193400,C1264039,D056725,,,Von Willebrand disease type 1,All ages,Autosomal dominant
206,NON RARE IN EUROPE: Crohn disease,Disease,Disorder,,,,,,,,,,,
166073,Pontocerebellar hypoplasia type 6,Malformation syndrome,Disorder,LD20.01,0012683,Q04.3,611523,C1969084,C548074,,10710,Pontocerebellar hypoplasia type 6,Neonatal,Autosomal recessive
213,Cystinosis,Disease,Disorder,5C60.1,0016239,E72.0,219900,C4316899,D003554,10011777,6236,Cystinosis,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
166084,Von Willebrand disease type 2A,Clinical subtype,Subtype of disorder,3B12,0015628,D68.0,613554,C1282968,,,,Von Willebrand disease type 2A,,"Autosomal dominant, Autosomal recessive"
333,Farber disease,Disease,Disorder,5C56.0Y,0009218,E75.2,228000,C0268255,D055577,10083960,6426,Farber disease,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
166081,Von Willebrand disease type 2,Clinical subtype,Subtype of disorder,3B12,0013304,D68.0,613554,C1264040,D056728,,,Von Willebrand disease type 2,All ages,"Autosomal dominant, Autosomal recessive"
349,Fucosidosis,Disease,Disorder,5C56.21,0009254,E77.1,230000,C0016788,D005645,,6473,Fucosidosis,"Childhood, Infancy",Autosomal recessive
166090,Von Willebrand disease type 2M,Clinical subtype,Subtype of disorder,3B12,0015630,D68.0,613554,C1282974,,,,Von Willebrand disease type 2M,,Autosomal dominant
365,Glycogen storage disease due to acid maltase deficiency,Disease,Disorder,5C51.3,0009290,E74.0,232300,C0017921,D006009,10053185,5714,Glycogen storage disease due to acid maltase deficiency,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
166087,Von Willebrand disease type 2B,Clinical subtype,Subtype of disorder,3B12,0015629,D68.0,613554,C1282971,,,,Von Willebrand disease type 2B,,Autosomal dominant
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,Disease,Disorder,5C51.3,0009291,E74.0,232400,C0017922,D006010,10053250,9442,Glycogen storage disease due to glycogen debranching enzyme deficiency,"Childhood, Infancy",Autosomal recessive
166093,Von Willebrand disease type 2N,Clinical subtype,Subtype of disorder,3B12,0015631,D68.0,613554,C1282975,,,,Von Willebrand disease type 2N,,Autosomal recessive
368,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,Disease,Disorder,5C51.3,0009293,E74.0,232600,C0017924,D006012,10018462,6528,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,"Adolescent, Adult, Childhood",Autosomal recessive
166096,Von Willebrand disease type 3,Clinical subtype,Subtype of disorder,3B12,0010191,D68.0,277480,C1264041,D056729,,,Von Willebrand disease type 3,"Infancy, Neonatal",Autosomal recessive
367,Glycogen storage disease due to glycogen branching enzyme deficiency,Disease,Disorder,5C51.3,0009292,E74.0,263570,C0017923,D006011,10053249,2520,Glycogen storage disease due to glycogen branching enzyme deficiency,All ages,Autosomal recessive
166100,Autosomal dominant otospondylomegaepiphyseal dysplasia,Malformation syndrome,Disorder,LD2F.1Y,0008490,Q87.0,184840,C1861481,C537494,,,Autosomal dominant otospondylomegaepiphyseal dysplasia,"Infancy, Neonatal",Autosomal dominant
371,Glycogen storage disease due to muscle phosphofructokinase deficiency,Disease,Disorder,5C51.3,0009295,E74.0,232800,C0017926,D006014,10053241,5686,Glycogen storage disease due to muscle phosphofructokinase deficiency,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
166105,FASTKD2-related infantile mitochondrial encephalomyopathy,Disease,Disorder,5C53.2Y,0015632,G71.3,618855,C4755278,,,,FASTKD2-related infantile mitochondrial encephalomyopathy,"Adolescent, Infancy, Neonatal",Autosomal recessive
369,Glycogen storage disease due to liver glycogen phosphorylase deficiency,Disease,Disorder,5C51.3,0009294,E74.0,232700,C0017925,D006013,10053240,6529,Glycogen storage disease due to liver glycogen phosphorylase deficiency,Childhood,Autosomal recessive
447,Paroxysmal nocturnal hemoglobinuria,Disease,Disorder,3A21.0,0100244,D59.5,615399,C0024790,D006457,10034042,7337,Paroxysmal nocturnal hemoglobinuria,All ages,Not applicable
166108,Birk-Barel syndrome,Disease,Disorder,,0012856,Q87.8,612292,C2676770,C567357,,10358,Birk-Barel syndrome,Infancy,Autosomal dominant
166113,Bazex syndrome,Disease,Disorder,EL10,,L44.8,,C0406355,,10065247,,Bazex syndrome,Adult,Not applicable
535,Rare cutaneous lupus erythematosus,Clinical group,Group of disorders,,,,,C5680424,,10056509,6225,Rare cutaneous lupus erythematosus,All ages,Multigenic/multifactorial
166119,Isolated osteopoikilosis,Disease,Disorder,LD24.11,0015634,Q78.8,166700,C1833699,C563484,,,Isolated osteopoikilosis,"Adolescent, Adult, Childhood",Autosomal dominant
487,Krabbe disease,Disease,Disorder,8A44.4,0009499,E75.2,611722,C0023521,D007965,10023492,6844,Krabbe disease,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
166260,Dentinogenesis imperfecta type 2,Clinical subtype,Subtype of disorder,LA30.8,0007441,K00.5,605594,C2973527,,,12796,Dentinogenesis imperfecta type 2,Childhood,Autosomal dominant
166265,Dentinogenesis imperfecta type 3,Clinical subtype,Subtype of disorder,LA30.8,0007442,K00.5,125500,C0399378,C538216,,10144,Dentinogenesis imperfecta type 3,Childhood,Autosomal dominant
583,Mucopolysaccharidosis type 6,Disease,Disorder,5C56.33,0009661,E76.2,253200,C0026709,D009087,10056892,7095,Mucopolysaccharidosis type 6,Childhood,Autosomal recessive
166272,Odontochondrodysplasia,Malformation syndrome,Disorder,,100325,Q78.8,184260,C2745953,C535792,,8717,Odontochondrodysplasia,"Infancy, Neonatal",Autosomal recessive
576,Mucolipidosis type II,Disease,Disorder,5C56.20,0009650,E77.0,252500,C0020725,C538602,10072928,6749,Mucolipidosis type II,"Antenatal, Neonatal",Autosomal recessive
166277,Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,Malformation syndrome,Disorder,LD24.KY,0011501,Q78.8,604922,C4518794,,,10290,Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,Childhood,Unknown
812,Sialidosis type 1,Disease,Disorder,5C56.21,0019346,E77.1,256550,C0023806,,,7639,Sialidosis type 1,"Adolescent, Childhood",Autosomal recessive
166282,Hereditary sick sinus syndrome,Disease,Disorder,BC65.Y,0012061,I49.5,619464,C0340491,D012804,10040639,13663,Hereditary sick sinus syndrome,"Adult, Elderly","Autosomal dominant, Autosomal recessive"
578,Mucolipidosis type IV,Disease,Disorder,5C56.0Y,0009653,E75.1,252650,C0238286,,10072930,94,Mucolipidosis type IV,Infancy,Autosomal recessive
166286,Porokeratotic eccrine ostial and dermal duct nevus,Disease,Disorder,LC02,0015635,Q82.5,,C0473579,,,,Porokeratotic eccrine ostial and dermal duct nevus,"Infancy, Neonatal",Not applicable
577,Mucolipidosis type III,Disease,Disorder,5C56.20,,E77.0,252605,C0033788,,10072929,3806,Mucolipidosis type III,Childhood,Autosomal recessive
166291,Dirofilariasis,Disease,Disorder,1F66.Y,0015636,B74.8,,C0012602,D004184,10080290,11908,Dirofilariasis,All ages,Not applicable
166295,Benign non-familial infantile seizures,Clinical group,Group of disorders,,0015637,,,C5680425,,,,,,
771,NON RARE IN EUROPE: Ulcerative colitis,Disease,Disorder,,,,,,,,,,,
166308,Benign infantile focal epilepsy with midline spikes and waves during sleep,Disease,Disorder,8A61.10,0015641,G40.0,,C4749346,,,,Benign infantile focal epilepsy with midline spikes and waves during sleep,Infancy,
166305,OBSOLETE: Benign infantile seizures associated with mild gastroenteritis,Disease,Disorder,,,,,,,,,,,
2912,Poliomyelitis,Disease,Disorder,1C81,0017373,A80.1,,C0032371,D011051,10036012,7413,Poliomyelitis,Childhood,Not applicable
166302,Benign partial epilepsy with secondarily generalized seizures in infancy,Disease,Disorder,,0015639,,,C4749728,,,,,,
166299,Benign partial epilepsy of infancy with complex partial seizures,Disease,Disorder,,0015638,,,C4749347,,,,,,
796,Sandhoff disease,Disease,Disorder,5C56.00,0010006,E75.0,268800,C0036161,D012497,,2521,Sandhoff disease,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
166409,Photosensitive occipital lobe epilepsy,Disease,Disorder,8A61.40,0015643,G40.5,609573,C0393720,,,5648,Photosensitive occipital lobe epilepsy,"Adolescent, Adult, Childhood",
801,Scleroderma,Clinical group,Group of disorders,,0019340,,,C0011644,,10039710,,Scleroderma,All ages,Not applicable
166311,Benign partial infantile seizures,Clinical group,Group of disorders,,0015642,,,C5680426,,,,,,
461,Recessive X-linked ichthyosis,Disease,Disorder,EC20.01,0010622,Q80.1,308100,C2720163,D016114,,7904,Recessive X-linked ichthyosis,Neonatal,X-linked recessive
166421,Orgasm-induced epilepsy,Disease,Disorder,8A61.40,0015646,G40.5,,C4706598,,,,Orgasm-induced epilepsy,Adult,
856,NON RARE IN EUROPE: Tourette syndrome,Disease,Disorder,,,F95.2,,,,,,,,
166418,Eating reflex epilepsy,Disease,Disorder,8A61.40,0015645,G40.5,,C0393725,,,,Eating reflex epilepsy,All ages,
166415,Audiogenic epilepsy,Disease,Disorder,8A61.40,0015644,G40.5,,C0751791,,,,,,
584,Mucopolysaccharidosis type 7,Disease,Disorder,5C56.3Y,0009662,E76.2,253220,C0085132,D016538,10056893,7096,Mucopolysaccharidosis type 7,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
825,NON RARE IN EUROPE: Ankylosing spondylitis,Disease,Disorder,,,M45,,,,,,,,
166412,Hot water reflex epilepsy,Disease,Disorder,8A61.40,0013229,G40.5,613340,C4706506,,,,Hot water reflex epilepsy,All ages,Autosomal dominant
166433,Epilepsy with reading-induced seizures,Disease,Disorder,8A61.40,0007560,G40.5,132300,C0278193,,,,Epilepsy with reading-induced seizures,"Adolescent, Adult",
166430,Micturition-induced epilepsy,Disease,Disorder,8A61.40,0015649,G40.5,,C4706587,,,,,,
881,Turner syndrome,Malformation syndrome,Disorder,LD50.0,0019499,Q96.4,,C0041408,D014424,10045181,7831,Turner syndrome,"Antenatal, Childhood, Infancy, Neonatal","Not applicable, Unknown"
166427,Startle epilepsy,Disease,Disorder,8A61.40,0015648,G40.5,,C4706527,,,,,,
166424,Thinking epilepsy,Disease,Disorder,8A61.40,0015647,G40.5,,C4706523,,,,,,
95,Friedreich ataxia,Disease,Disorder,8A03.10,100339,G11.1,601992,C0016719,D005621,10017374,6468,Friedreich ataxia,"Adolescent, Childhood",Autosomal recessive
166466,Neurocutaneous syndrome with epilepsy,Category,Group of disorders,,,,,C5680427,,,,,,
848,Beta-thalassemia,Clinical group,Group of disorders,3A50.2,0019402,D56.1,603902,C0005283,D017086,10043391,871,Beta-thalassemia,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
166469,Chromosomal anomaly with epilepsy as a major feature,Category,Group of disorders,,,,,C5680428,,,,,,
846,Alpha-thalassemia,Clinical group,Group of disorders,3A50.0,0011399,D56.0,604131,C0002312,D017085,10043390,621,Alpha-thalassemia,All ages,Autosomal recessive
166457,OBSOLETE: Other forms of non-paraneoplastic limbic encephalitis,Category,Group of disorders,,,,,,,,,,,
586,Cystic fibrosis,Disease,Disorder,CA25,0009061,E84,219700,C0010674,D003550,10011762,6233,Cystic fibrosis,All ages,Autosomal recessive
166463,Epilepsy syndrome,Category,Group of disorders,,0015650,,,C4505072,D000073376,,,,,
166478,Cerebral malformation with epilepsy,Category,Group of disorders,,,,,C5680429,,,,,,
262,Duchenne and Becker muscular dystrophy,Clinical group,Group of disorders,,,,,C3542021,,,,Duchenne and Becker muscular dystrophy,"Adolescent, Adult, Childhood",X-linked recessive
166481,Metabolic diseases with epilepsy,Category,Group of disorders,,,,,C1299598,,,,,,
166472,Monogenic disease with epilepsy,Category,Group of disorders,,,,,C5680430,,,,,,
166475,Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes,Category,Group of disorders,,,,,C5680431,,,,,,
261,Emery-Dreifuss muscular dystrophy,Disease,Disorder,8C70.2,0016830,G71.0,612999,C0410189,D020389,10081544,6329,Emery-Dreifuss muscular dystrophy,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
166490,Infectious disease with epilepsy,Category,Group of disorders,,,,,C5680432,,,,,,
166484,Inflammatory and autoimmune disease with epilepsy,Category,Group of disorders,,,,,C5680433,,,,,,
166487,Cerebral diseases of vascular origin with epilepsy,Category,Group of disorders,,,,,C5680434,,,,,,
550,MELAS,Disease,Disorder,8C73.Y,0010789,G71.3,540000,C0162671,D017241,10053872,7009,MELAS,"Adolescent, Adult, Childhood","Mitochondrial inheritance, Not applicable"
269,Facioscapulohumeral dystrophy,Disease,Disorder,8C70.3,0001347,G71.0,600416,C0238288,D020391,10064087,9941,Facioscapulohumeral dystrophy,All ages,Autosomal dominant
480,Kearns-Sayre syndrome,Disease,Disorder,9C82.0,0010787,H49.8,530000,C0022541,D007625,10048804,6817,Kearns-Sayre syndrome,"Adolescent, Adult, Childhood, Infancy","Autosomal recessive, Mitochondrial inheritance, Not applicable"
593,Myofibrillar myopathy,Category,Group of disorders,8C76,0018943,,,C2678065,C580316,10087101,10529,Myofibrillar myopathy,Adult,"Autosomal dominant, Autosomal recessive"
163898,OBSOLETE: Classic paraneoplastic limbic encephalitis,Disease,Disorder,,,,,,,,,,,
163895,OBSOLETE: Paraneoplastic limbic encephalitis,Clinical group,Group of disorders,,,,,,,,,,,
163908,OBSOLETE: Limbic encephalitis with LGI1 antibodies,Disease,Disorder,,,,,,,,,,,
163903,OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens,Category,Group of disorders,,,,,,,,,,,
551,MERRF,Disease,Disorder,8C73.Y,0010790,G71.3,545000,C0162672,D017243,10069825,7144,MERRF,"Adult, Childhood",Mitochondrial inheritance
597,Central core disease,Disease,Disorder,8C72.02,0007294,G71.2,117000,C0751951,D020512,10057620,6014,Central core disease,Childhood,Autosomal dominant
607,Nemaline myopathy,Clinical group,Group of disorders,8C72.00,0018958,,,C0206157,D017696,,12033,Nemaline myopathy,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
163892,OBSOLETE: Limbic encephalitis,Clinical group,Group of disorders,,,,,,,,,,,
163746,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,Disease,Disorder,,0012198,E75.2,609136,C1836727,C563789,,,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,"Infancy, Neonatal",Autosomal dominant
684,Paramyotonia congenita of Von Eulenburg,Disease,Disorder,8C74.0,0008195,G71.1,168300,C0221055,,10088318,7325,Paramyotonia congenita of Von Eulenburg,"Adolescent, Childhood, Infancy, Neonatal",Autosomal dominant
163931,Acrodermatitis continua of Hallopeau,Disease,Disorder,EA90.41,,L40.2,,C0392439,,,,Acrodermatitis continua of Hallopeau,Adult,Autosomal recessive
273,Steinert myotonic dystrophy,Disease,Disorder,8C71.0,0008056,G71.1,160900,C3250443,C538008,,8310,Steinert myotonic dystrophy,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
163927,Pustulosis palmaris et plantaris,Disease,Disorder,EA90.42,0015597,L40.3,,C0030246,,10050185,12820,Pustulosis palmaris et plantaris,,"Autosomal dominant, Autosomal recessive"
163937,"X-linked intellectual disability, Najm type",Disease,Disorder,LD90.Y,0010417,Q04.3,300749,C2677903,,,12669,"X-linked intellectual disability, Najm type","Infancy, Neonatal",X-linked dominant
163934,Atopic keratoconjunctivitis,Disease,Disorder,9A60.0Y,0015599,H16.2,,C1274788,,10069664,,Atopic keratoconjunctivitis,All ages,Not applicable
163918,OBSOLETE: Non-paraneoplastic limbic encephalitis,Category,Group of disorders,,,,,,,,,,,
163914,OBSOLETE: Limbic encephalitis with nCMAgs antibodies,Disease,Disorder,,,,,,,,,,,
163924,OBSOLETE: Non-herpetic acute limbic encephalitis,Disease,Disorder,,,,,,,,,,,
614,Thomsen and Becker disease,Disease,Disorder,8C71.2,0009710,G71.1,255700,C0027127,,10028655,12301,Thomsen and Becker disease,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
163921,Posttransplant acute limbic encephalitis,Particular clinical situation in a disease or syndrome,Disorder,,0015595,G04.8,,C4750744,,,,Posttransplant acute limbic encephalitis,All ages,
163966,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",Disease,Disorder,LD24.A,0010463,Q87.8,300863,C4304401,,,,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type","Infancy, Neonatal",X-linked dominant
163971,"X-linked intellectual disability, Cilliers type",Disease,Disorder,LD90,0015600,Q87.8,,C4305024,,,,"X-linked intellectual disability, Cilliers type","Infancy, Neonatal",X-linked recessive
163976,"X-linked intellectual disability, Van Esch type",Malformation syndrome,Disorder,LD90,0015601,Q87.8,301030,C4305072,,,,"X-linked intellectual disability, Van Esch type","Infancy, Neonatal",X-linked recessive
163979,X-linked intellectual disability-craniofacioskeletal syndrome,Disease,Disorder,LD90,0010412,Q87.8,300712,C4750743,,,,X-linked intellectual disability-craniofacioskeletal syndrome,"Antenatal, Infancy, Neonatal",Unknown
163953,"X-linked intellectual disability, Raymond type",Disease,Disorder,,,,300799,,,,,,,
163956,"X-linked intellectual disability, Nascimento type",Disease,Disorder,LD90,0010461,Q87.8,300860,C4512071,,,,"X-linked intellectual disability, Nascimento type",Infancy,X-linked recessive
163961,X-linked cerebral-cerebellar-coloboma syndrome,Disease,Disorder,,0010464,Q87.8,300864,C3275487,,,,X-linked cerebral-cerebellar-coloboma syndrome,"Infancy, Neonatal",X-linked recessive
164004,Middle and/or inner ear anomaly,Category,Group of disorders,,,,,C5816681,,10060957,,,,
164726,Acute myeloid leukemia and myelodysplastic syndromes related to radiation,Disease,Disorder,2A60.20,0015608,D46.7,,C4707660,,,,Acute myeloid leukemia and myelodysplastic syndromes related to radiation,"Adult, Elderly",
324,Fabry disease,Disease,Disorder,5C56.01,0010526,E75.2,301500,C0002986,D000795,10016016,6400,Fabry disease,"Adolescent, Adult, Childhood","X-linked dominant, X-linked recessive"
163982,X-linked intellectual disability-spastic quadriparesis syndrome,Disease,Disorder,,,,309640,,,,,,,
163985,Hyperekplexia-epilepsy syndrome,Disease,Disorder,,0010375,G25.8,300607,C5191643,,,,Hyperekplexia-epilepsy syndrome,Neonatal,X-linked recessive
778,Rett syndrome,Disease,Disorder,LD90.4,0010726,F84.2,312750,C0035372,D015518,10077709,5696,Rett syndrome,Infancy,X-linked dominant
163988,"OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type",Malformation syndrome,Disorder,,,,,,,,,,,
164001,Rare odontal or periodontal disorder,Category,Group of disorders,,,,,C5680435,,,,,,
72,Angelman syndrome,Malformation syndrome,Disorder,LD90.0,0007113,Q93.5,105830,C0162635,D017204,10049004,5810,Angelman syndrome,Infancy,Not applicable
165661,Genetic pancreatic disease,Category,Group of disorders,,,,,C5680436,,,,,,
307,Juvenile myoclonic epilepsy,Disease,Disorder,8A61.30,0009696,G40.3,617924,C0270853,D020190,10071082,6808,Juvenile myoclonic epilepsy,"Adolescent, Childhood",Multigenic/multifactorial
165658,Genetic gastro-esophageal disease,Category,Group of disorders,,,,,C5680437,,,,,,
165655,Genetic intestinal disease,Category,Group of disorders,,,,,C5680438,,,,,,
165652,Rare genetic gastroenterological disease,Category,Group of disorders,,,,,C5680439,,,,,,
1941,Juvenile absence epilepsy,Disease,Disorder,8A61.31,0011876,G40.3,607631,C4317339,,10085031,2162,Juvenile absence epilepsy,Adolescent,"Multigenic/multifactorial, Unknown"
892,Von Hippel-Lindau disease,Disease,Disorder,5A75,0008667,Q85.8,193300,C0019562,D006623,10047716,7855,Von Hippel-Lindau disease,"Adolescent, Adult, Childhood",Autosomal dominant
164823,Rare acquired aplastic anemia,Category,Group of disorders,,,,,C5680440,,,,,,
731,Autosomal recessive polycystic kidney disease,Disease,Disorder,GB8Y,0009889,Q61.1,617610,C0085548,D017044,10036047,8378,Autosomal recessive polycystic kidney disease,All ages,Autosomal recessive
164736,Familial advanced sleep-phase syndrome,Disease,Disorder,7A6Z,,G47.2,615224,C1858496,C565789,,9242,Familial advanced sleep-phase syndrome,"Adolescent, Childhood",Autosomal dominant
138,CHARGE syndrome,Malformation syndrome,Disorder,5A61.0,0008965,Q87.8,214800,C0265354,D058747,10064063,29,CHARGE syndrome,"Antenatal, Neonatal","Autosomal dominant, Unknown"
558,Marfan syndrome,Disease,Disorder,LD28.01,0007947,Q87.4,154700,C0024796,D008382,10026829,,Marfan syndrome,All ages,Autosomal dominant
165805,Familial mesial temporal lobe epilepsy with febrile seizures,Disease,Disorder,,0013742,,,C5191318,,,,,,
803,Amyotrophic lateral sclerosis,Disease,Disorder,8B60.0,0004976,G12.2,619141,C0002736,D000690,10002026,5786,Amyotrophic lateral sclerosis,Adult,"Autosomal dominant, Autosomal recessive, Not applicable"
165711,Rare abdominal surgical disease,Category,Group of disorders,,,,,C5680441,,,,,,
802,NON RARE IN EUROPE: Multiple sclerosis,Disease,Disorder,,,G35,,,,,,,,
165707,Syndromic urogenital tract malformation,Category,Group of disorders,,,,,C5680442,,,,,,
100,Ataxia-telangiectasia,Disease,Disorder,4A01.31,0008840,G11.3,208910,C0004135,D001260,10003594,5862,Ataxia-telangiectasia,"Childhood, Infancy",Autosomal recessive
165704,Non-syndromic urogenital tract malformation,Category,Group of disorders,,,,,C5680443,,,,,,
733,Familial adenomatous polyposis,Disease,Disorder,2B90.Y,0021055,D12.6,616415,C0032580,D011125,10056981,6408,Familial adenomatous polyposis,Adult,"Autosomal dominant, Autosomal recessive"
165961,OBSOLETE: Subcutaneous myiasis,Category,Group of disorders,,,,,,,,,,,
399,Huntington disease,Disease,Disorder,8A01.10,0007739,G10,143100,C0020179,D006816,10070668,6677,Huntington disease,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
165955,Wound myiasis,Disease,Disorder,1G01.3,0015622,B87.1,,C0344061,,,,Wound myiasis,"Adult, Elderly",Not applicable
501,Lafora disease,Disease,Disorder,8A61.41,0009697,G40.3,620681,C0751783,D020192,10054030,8214,Lafora disease,"Adolescent, Childhood",Autosomal recessive
165958,Cavitary myiasis,Disease,Disorder,1G01.0,0015623,B87.8,,C4707154,,,,Cavitary myiasis,All ages,Not applicable
870,Down syndrome,Malformation syndrome,Disorder,LD40.0,0008608,Q90.9,190685,C0013080,D004314,10044688,10247,Down syndrome,"Antenatal, Neonatal",Not applicable
512,Metachromatic leukodystrophy,Disease,Disorder,5C56.02,0018868,E75.2,250100,C0023522,D007966,10067609,3230,Metachromatic leukodystrophy,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
166011,"Multiple epiphyseal dysplasia, Beighton type",Disease,Disorder,,0007562,,132450,C4304499,,,,,,
166016,"Multiple epiphyseal dysplasia, Lowry type",Disease,Disorder,LD24.61,0011109,Q78.8,601560,C1832112,C563291,,,"Multiple epiphyseal dysplasia, Lowry type",Neonatal,
567,22q11.2 deletion syndrome,Malformation syndrome,Disorder,LD44.N0,0018923,D82.1,188400,C0012236,D004062,10012979,10299,22q11.2 deletion syndrome,All ages,Autosomal dominant
232,Sickle cell anemia,Disease,Disorder,3A51.2,0011382,D57.2,603903,C0002895,D000755,10040641,8614,Sickle cell anemia,All ages,Autosomal recessive
165994,Pituitary resistance to thyroid hormone,Disease,Disorder,,,,,C1840364,,,,,,
536,Systemic lupus erythematosus,Disease,Disorder,4A40.0,0007915,M32.9,614420,C0024141,D008180,10042945,,Systemic lupus erythematosus,"Adolescent, Adult, Childhood, Infancy",Not applicable
166002,Multiple epiphyseal dysplasia due to collagen 9 anomaly,Disease,Disorder,LD24.61,0015627,Q77.3,614135,C4707798,,,,Multiple epiphyseal dysplasia due to collagen 9 anomaly,"Adolescent, Childhood",Autosomal dominant
534,Oculocerebrorenal syndrome of Lowe,Malformation syndrome,Disorder,5C60.0,,E72.0,309000,C0028860,D009800,10051707,3295,Oculocerebrorenal syndrome of Lowe,"Antenatal, Neonatal",X-linked recessive
165988,Diazoxide-resistant diffuse hyperinsulinism,Clinical group,Group of disorders,,0015625,,,C5679569,,,,,,
790,Retinoblastoma,Disease,Disorder,2D02.2,0008380,C69.2,180200,C0035335,D012175,10038916,7563,Retinoblastoma,"Antenatal, Childhood, Infancy","Autosomal dominant, Not applicable"
165991,Exercise-induced hyperinsulinism,Disease,Disorder,5A45,0012396,E16.1,610021,C1864902,C538376,,9932,Exercise-induced hyperinsulinism,"Adolescent, Adult",Autosomal dominant
652,Multiple endocrine neoplasia type 1,Disease,Disorder,2F7A.0,0007540,D44.8,131100,C0025267,D018761,10073150,3829,Multiple endocrine neoplasia type 1,All ages,"Autosomal dominant, Not applicable"
165985,Diazoxide-sensitive diffuse hyperinsulinism,Clinical group,Group of disorders,,0015624,,,C5679570,,,,,,
908,Fragile X syndrome,Malformation syndrome,Disorder,LD55,0010383,Q99.2,311360,C0016667,D005600,10017324,6464,Fragile X syndrome,"Childhood, Infancy, Neonatal",X-linked dominant
3099,Rheumatic fever,Disease,Disorder,1B41,0017767,I01.9,268240,C0035436,D012213,10039054,5699,Rheumatic fever,Childhood,Not applicable
739,Prader-Willi syndrome,Disease,Disorder,LD90.3,0008300,Q87.1,615547,C0032897,D011218,10036476,5575,Prader-Willi syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
47,X-linked agammaglobulinemia,Clinical subtype,Subtype of disorder,4A01.00,0010421,D80.0,300755,C0221026,C537409,10060360,1033,X-linked agammaglobulinemia,Childhood,X-linked recessive
580,Mucopolysaccharidosis type 2,Disease,Disorder,5C56.31,0010674,E76.1,309900,C0026705,D016532,10056889,6675,Mucopolysaccharidosis type 2,Childhood,X-linked recessive
579,Mucopolysaccharidosis type 1,Disease,Disorder,5C56.30,0001586,E76.0,607016,C0023786,D008059,10056886,10335,Mucopolysaccharidosis type 1,All ages,Autosomal recessive
905,Wilson disease,Disease,Disorder,5C64.00,0010200,E83.0,277900,C0019202,D006527,10019819,7893,Wilson disease,"Adolescent, Adult, Childhood, Elderly",Autosomal recessive
163209,Non-syndromic cerebral malformation due to abnormal neuronal migration,Category,Group of disorders,,,,,C5679571,,,,,,
792,X-linked retinoschisis,Malformation syndrome,Disorder,9B73.11,0010725,Q14.1,312700,C0271091,,,4690,X-linked retinoschisis,"Adolescent, Adult, Childhood, Infancy",X-linked recessive
163528,OBSOLETE: Acute cutaneous lupus erythematosus,Category,Group of disorders,,,,,,,,,,,
383,X-linked mixed deafness with perilymphatic gusher,Clinical subtype,Subtype of disorder,,,,304400,C1844678,,,,,,
163525,Subacute cutaneous lupus erythematosus,Disease,Disorder,EB50,0015573,L93.1,,C0024140,,10057903,,Subacute cutaneous lupus erythematosus,"Adult, Elderly",
827,Stargardt disease,Disease,Disorder,9B70,0019353,H35.5,603786,C0271093,D000080362,10062766,181,Stargardt disease,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Autosomal recessive"
163582,Rare bacterial infectious disease,Category,Group of disorders,,,,,C5681850,,,,,,
163531,Chronic cutaneous lupus erythematosus,Clinical group,Group of disorders,EB51,0015574,,,C0024138,,10057929,,Chronic cutaneous lupus erythematosus,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
906,Wiskott-Aldrich syndrome,Disease,Disorder,3B62.0Y,0010518,D82.0,600903,C0043194,D014923,10047992,7895,Wiskott-Aldrich syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
904,Williams syndrome,Malformation syndrome,Disorder,LD44.70,0008678,Q93.8,194050,C0175702,D018980,10049644,7891,Williams syndrome,"Antenatal, Neonatal",Autosomal dominant
162521,OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly,Malformation syndrome,Disorder,,,,,,,,,,,
280,Wolf-Hirschhorn syndrome,Malformation syndrome,Disorder,LD44.41,0008684,Q93.3,194190,C1956097,D054877,10050361,7896,Wolf-Hirschhorn syndrome,"Antenatal, Neonatal","Multigenic/multifactorial, Not applicable"
162516,Isolated congenital nasal pyriform aperture stenosis,Malformation syndrome,Disorder,LA70.Y,0015568,Q30.8,,C3839990,,10089480,,Isolated congenital nasal pyriform aperture stenosis,Neonatal,
15,Achondroplasia,Disease,Disorder,LD24.00,0007037,Q77.4,100800,C0001080,D000130,10000452,8173,Achondroplasia,"Antenatal, Neonatal",Autosomal dominant
96,Ataxia with vitamin E deficiency,Disease,Disorder,8A03.10,0010188,G11.1,277460,C1848533,C535393,10088735,8595,Ataxia with vitamin E deficiency,All ages,Autosomal recessive
162526,Isolated congenital auditory ossicle malformation,Morphological anomaly,Disorder,LA22.3,0015570,Q16.3,,C0158587,,10010341,,,,
101,Dentatorubral pallidoluysian atrophy,Disease,Disorder,8A01.12,0007435,G11.8,125370,C0751781,,10075298,5643,Dentatorubral pallidoluysian atrophy,All ages,Autosomal dominant
783,Rubinstein-Taybi syndrome,Malformation syndrome,Disorder,LD2F.1Y,0019188,Q87.2,613684,C0035934,D012415,10039281,7593,Rubinstein-Taybi syndrome,"Antenatal, Neonatal","Autosomal dominant, Unknown"
163649,Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,Disease,Disorder,LD24.3,0011261,Q77.7,,C4305147,,,,Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
631,Non-acquired isolated growth hormone deficiency,Disease,Disorder,5A61.0,0000050,E23.0,612781,C5679572,,10035083,12556,Non-acquired isolated growth hormone deficiency,Neonatal,"Autosomal dominant, Autosomal recessive, X-linked recessive"
276,T-B+ severe combined immunodeficiency due to gamma chain deficiency,Disease,Disorder,4A01.10,0010315,D81.2,300400,C4707334,,,5618,T-B+ severe combined immunodeficiency due to gamma chain deficiency,Neonatal,X-linked recessive
163654,Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,Disease,Disorder,LD24.3,0012716,Q77.7,611717,C2673649,C567128,,10629,Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,"Infancy, Neonatal",Unknown
481,Kennedy disease,Disease,Disorder,8B61.4,0010735,G12.2,313200,C1839259,,10068600,6818,Kennedy disease,Adult,X-linked recessive
664,Ornithine transcarbamylase deficiency,Disease,Disorder,5C50.AY,0010703,E72.4,311250,C0268542,D020163,10052450,8391,Ornithine transcarbamylase deficiency,All ages,X-linked recessive
163668,"Spondyloepiphyseal dysplasia, MacDermot type",Malformation syndrome,Disorder,LD24.3,0008472,Q77.7,184000,C4305149,,,,"Spondyloepiphyseal dysplasia, MacDermot type","Infancy, Neonatal",Autosomal dominant
163673,"Spondyloepiphyseal dysplasia, Byers type",Disease,Disorder,,,,183850,C1866727,,,,,,
163662,"Spondyloepiphyseal dysplasia, Reardon type",Disease,Disorder,LD24.3,0010902,Q77.7,600561,C4305148,,,,"Spondyloepiphyseal dysplasia, Reardon type","Infancy, Neonatal",Autosomal dominant
394,Homocystinuria due to cystathionine beta-synthase deficiency,Disease,Disorder,5C50.B,0009352,E72.1,236200,C0751202,,10071093,6667,Homocystinuria due to cystathionine beta-synthase deficiency,"Adolescent, Adult, Childhood",Autosomal recessive
163665,"Spondyloepiphyseal dysplasia tarda, Kohn type",Disease,Disorder,LD24.3,0010073,Q77.7,271620,C4304888,,,,"Spondyloepiphyseal dysplasia tarda, Kohn type",Childhood,Autosomal recessive
508,Donohue syndrome,Malformation syndrome,Disorder,5A44,0009517,E34.8,246200,C0265344,D056731,10081896,6885,Donohue syndrome,"Antenatal, Neonatal",Autosomal recessive
163591,Rare mycosis,Category,Group of disorders,,,,,C5680444,,,,,,
436,Hypophosphatasia,Disease,Disorder,5C64.3,0018570,E83.3,241510,C0020630,D007014,10049933,6734,Hypophosphatasia,All ages,"Autosomal dominant, Autosomal recessive"
163596,Hemoglobin Bart's fetalis syndrome,Disease,Disorder,3A50.03,0015579,D56.0,236750,C0272005,,,,Hemoglobin Bart's fetalis syndrome,"Antenatal, Neonatal",Autosomal recessive
163585,Rare viral disease,Category,Group of disorders,,,,,C5680445,,,,,,
429,Hypochondroplasia,Disease,Disorder,LD24.01,0007793,Q77.4,146000,C0410529,C562937,10020967,6724,Hypochondroplasia,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
163588,Rare parasitic disease,Category,Group of disorders,,,,,C5680446,,,,,,
437,Hypophosphatemic rickets,Clinical group,Group of disorders,5C63.22,0000044,,,C1704375,D063730,10060873,6735,Hypophosphatemic rickets,All ages,"Autosomal dominant, Autosomal recessive, X-linked dominant"
163637,"Rare disorder related with pregnancy, childbirth and puerperium",Category,Group of disorders,,,,,C5680447,,,,,,
104,Leber hereditary optic neuropathy,Disease,Disorder,8C73.Y,0010788,H47.2,535000,C0917796,D029242,,6870,Leber hereditary optic neuropathy,"Adolescent, Adult",Mitochondrial inheritance
163631,Bile acid synthesis defect with cholestasis and malabsorption,Category,Group of disorders,5C52.11,,,,C5681851,,,,,,
2182,Hydrocephalus with stenosis of the aqueduct of Sylvius,Clinical subtype,Subtype of disorder,LA04.0,0010611,Q03.0,307000,C0265216,C536078,,434,Hydrocephalus with stenosis of the aqueduct of Sylvius,"Antenatal, Neonatal",X-linked recessive
163634,Maffucci syndrome,Disease,Disorder,LD2F.1Y,0013808,Q78.4,614569,C0024454,,10083007,6958,Maffucci syndrome,Childhood,Not applicable
163717,Familial mesial temporal lobe epilepsy,Disease,Disorder,8A61.4Y,0015586,G40.0,615697,C4749273,,,,Familial mesial temporal lobe epilepsy,"Adolescent, Adult",Autosomal dominant
163708,Cryptogenic late-onset epileptic spasms,Disease,Disorder,8A61.2Y,0015585,G40.4,,C4755310,,,,Cryptogenic late-onset epileptic spasms,Childhood,
636,Neurofibromatosis type 1,Disease,Disorder,LD2D.10,0018975,Q85.0,613675,C0027831,D009456,10029270,7866,Neurofibromatosis type 1,"Infancy, Neonatal",Autosomal dominant
163703,Febrile infection-related epilepsy syndrome,Disease,Disorder,8A63.Y,0015584,G40.5,,C4049262,,10079438,11005,Febrile infection-related epilepsy syndrome,All ages,Not applicable
649,Norrie disease,Malformation syndrome,Disorder,LD21.Y,0010691,H35.5,310600,C0266526,C537849,10069760,7224,Norrie disease,"Antenatal, Neonatal",X-linked recessive
163727,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,Disease,Disorder,8A61.2Y,0011970,G40.4,608105,C1842531,C535499,,,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,Infancy,Autosomal recessive
163721,Rolandic epilepsy-speech dyspraxia syndrome,Disease,Disorder,8A61.2Y,0015587,G40.8,300643,C4707308,,,,Rolandic epilepsy-speech dyspraxia syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, X-linked dominant"
163684,Leukoencephalopathy-dystonia-motor neuropathy syndrome,Disease,Disorder,,0013391,E75.2,613724,C4518784,,,12471,Leukoencephalopathy-dystonia-motor neuropathy syndrome,Childhood,Autosomal recessive
163681,CNTNAP2-related developmental and epileptic encephalopathy,Disease,Disorder,,0012400,Q04.8,610042,C5575702,,,,CNTNAP2-related developmental and epileptic encephalopathy,Infancy,Autosomal recessive
379,Chronic granulomatous disease,Disease,Disorder,4A00.0Y,0018305,D71,618935,C0018203,D006105,10008906,6100,Chronic granulomatous disease,"Adolescent, Adult, Childhood, Infancy","Autosomal recessive, X-linked recessive"
163678,OBSOLETE: Unclassified spondylometaphyseal dysplasia,Disease,Disorder,,,,,,,,,,,
16,Blue cone monochromatism,Disease,Disorder,9B70,0010563,H53.5,303700,C0339537,C536238,,917,Blue cone monochromatism,Infancy,X-linked recessive
644,NARP syndrome,Disease,Disorder,8C73.1,0010794,E88.8,551500,C1328349,C537396,10062940,262,NARP syndrome,Childhood,Mitochondrial inheritance
163699,Alveolar soft tissue sarcoma,Disease,Disorder,,0011655,C49.9,606243,C0206657,D018234,10001882,5654,Alveolar soft tissue sarcoma,All ages,Not applicable
637,Full NF2-related schwannomatosis,Disease,Disorder,LD2D.11,,Q85.0,101000,C0027832,D016518,,,Full NF2-related schwannomatosis,All ages,Autosomal dominant
163696,Action myoclonus-renal failure syndrome,Disease,Disorder,GB4Z,0009699,G40.4,254900,C0751779,,,,Action myoclonus-renal failure syndrome,"Adolescent, Adult",Autosomal recessive
181,X-linked hypohidrotic ectodermal dysplasia,Etiological subtype,Subtype of disorder,LD27.02,0010585,Q82.4,305100,C0162359,D053358,,10427,X-linked hypohidrotic ectodermal dysplasia,"Childhood, Infancy",X-linked recessive
163693,2p21 microdeletion syndrome,Disease,Disorder,LD44.21,0015583,Q93.5,606407,C4304537,,,,2p21 microdeletion syndrome,"Infancy, Neonatal",Autosomal recessive
163690,Hypotonia-cystinuria syndrome,Disease,Disorder,5C60.Y,0011669,E72.0,606407,C1848030,C564710,10083099,,Hypotonia-cystinuria syndrome,"Infancy, Neonatal",Autosomal recessive
337,Fibrodysplasia ossificans progressiva,Disease,Disorder,FB31.1,0007606,M61.1,135100,C0016037,D009221,10068715,6445,Fibrodysplasia ossificans progressiva,Childhood,"Autosomal dominant, Not applicable"
3444,Watson syndrome,Malformation syndrome,Disorder,,,,193520,C0553586,,,,,,
377,Gorlin syndrome,Malformation syndrome,Disorder,LD2D.4,0007187,C44.9,109400,C0004779,D001478,10062804,7166,Gorlin syndrome,"Adolescent, Adult",Autosomal dominant
648,Noonan syndrome,Malformation syndrome,Disorder,LD2F.15,0018997,Q87.1,616564,C0028326,D009634,10029748,10955,Noonan syndrome,"Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
281,Monosomy 5p syndrome,Malformation syndrome,Disorder,LD44.51,0007404,Q93.4,123450,C0010314,D003410,10011385,6213,Monosomy 5p syndrome,Antenatal,"Not applicable, Unknown"
752,"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",Disease,Disorder,LD2A.3,0009916,E29.1,264300,C0268296,C537805,,5659,"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","Adolescent, Neonatal",Autosomal recessive
214,Cystinuria,Disease,Disorder,5C60.2,0009067,E72.0,220100,C0010691,D003555,10011778,6237,Cystinuria,All ages,"Autosomal recessive, Semi-dominant"
510,Lesch-Nyhan syndrome,Disease,Disorder,5C55.01,0010298,E79.1,308950,C0023374,D007926,10057589,7226,Lesch-Nyhan syndrome,Infancy,X-linked recessive
524,Li-Fraumeni syndrome,Disease,Disorder,2B51.Y,0018875,C97,151623,C0085390,D016864,10066795,6902,Li-Fraumeni syndrome,All ages,Autosomal dominant
699,Pearson syndrome,Disease,Disorder,3A72.01,0010797,D64.0,557000,C0342784,,10062941,7343,Pearson syndrome,"Childhood, Infancy, Neonatal","Mitochondrial inheritance, Not applicable"
640,Hereditary neuropathy with liability to pressure palsies,Malformation syndrome,Disorder,8C20.Y,0008087,G60.0,162500,C0393814,C536965,10069382,5221,Hereditary neuropathy with liability to pressure palsies,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal dominant
60,Alpha-1-antitrypsin deficiency,Disease,Disorder,5C5A,0013282,E88.0,613490,C0221757,D019896,10001806,5784,Alpha-1-antitrypsin deficiency,All ages,Autosomal recessive
895,Waardenburg syndrome type 2,Clinical subtype,Subtype of disorder,EC23.2Y,0019517,E70.3,611584,C2700265,C536463,,5520,Waardenburg syndrome type 2,Neonatal,Autosomal dominant
896,Waardenburg syndrome type 3,Clinical subtype,Subtype of disorder,EC23.2Y,0007862,E70.3,148820,C0079661,,,5523,Waardenburg syndrome type 3,Neonatal,"Autosomal dominant, Autosomal recessive"
3140,NON RARE IN EUROPE: Schizophrenia,Disease,Disorder,,,,,,,,,,,
857,Townes-Brocks syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007142,Q87.8,617466,C0265246,C536974,,7784,Townes-Brocks syndrome,All ages,Autosomal dominant
894,Waardenburg syndrome type 1,Clinical subtype,Subtype of disorder,EC23.2Y,0008670,E70.3,193500,C1847800,,,5519,Waardenburg syndrome type 1,Neonatal,Autosomal dominant
682,Hyperkalemic periodic paralysis,Disease,Disorder,8C74.11,0008224,G72.3,170500,C0238357,D020513,,195,Hyperkalemic periodic paralysis,Childhood,Autosomal dominant
800,Schwartz-Jampel syndrome,Disease,Disorder,8C71.1,0009717,G71.1,255800,C0036391,,10082378,250,Schwartz-Jampel syndrome,"Infancy, Neonatal",Autosomal recessive
706,NON RARE IN EUROPE: Patent arterial duct,Morphological anomaly,Disorder,,,Q25.0,,,,10034130,,,,
628,Diastrophic dysplasia,Disease,Disorder,LD24.03,0009107,Q77.5,222600,C0220726,C536170,10081228,6275,Diastrophic dysplasia,"Antenatal, Neonatal",Autosomal recessive
673,Malaria,Disease,Disorder,1F45,0005136,B51.0,611162,C0024530,D008288,10025487,6961,Malaria,All ages,Not applicable
681,Hypokalemic periodic paralysis,Disease,Disorder,8C74.10,0008223,G72.3,613345,C0238358,D020514,,6729,Hypokalemic periodic paralysis,"Adolescent, Childhood",Autosomal dominant
126,Blepharophimosis-ptosis-epicanthus inversus syndrome,Malformation syndrome,Disorder,LD21.Y,0007201,Q10.3,110100,C0220663,C562419,10081258,,Blepharophimosis-ptosis-epicanthus inversus syndrome,Antenatal,"Autosomal dominant, Not applicable"
107,BOR syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007029,Q87.8,610896,C0265234,D019280,10071135,10147,BOR syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
774,Hereditary hemorrhagic telangiectasia,Disease,Disorder,LA90.00,0019180,I78.0,175050,C0039445,D013683,10019883,6626,Hereditary hemorrhagic telangiectasia,All ages,Autosomal dominant
794,Saethre-Chotzen syndrome,Malformation syndrome,Disorder,LD24.GY,0007042,Q87.0,101400,C0175699,,,7598,Saethre-Chotzen syndrome,"Antenatal, Neonatal",Autosomal dominant
710,Pfeiffer syndrome,Malformation syndrome,Disorder,LD24.G0,0007043,Q87.0,101600,C0220658,C538582,10082289,7380,Pfeiffer syndrome,"Antenatal, Neonatal",Autosomal dominant
2869,Peutz-Jeghers syndrome,Disease,Disorder,LD2D.0,0008280,Q85.8,175200,C0031269,D010580,10034764,7378,Peutz-Jeghers syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
862,NON RARE IN EUROPE: Hereditary essential tremor,Disease,Disorder,,,G25.0,,,,,,,,
893,WAGR syndrome,Malformation syndrome,Disorder,LD2A.Y,0008681,C64,612469,C0206115,D017624,,5528,WAGR syndrome,"Antenatal, Neonatal",Autosomal dominant
912,Zellweger syndrome,Disease,Disorder,5C57.0,0019609,Q87.8,614887,C0043459,D015211,10053684,7917,Zellweger syndrome,Neonatal,Autosomal recessive
50,Aicardi syndrome,Disease,Disorder,LD20.Y,0010568,Q04.0,304050,C0175713,D058540,10054935,5764,Aicardi syndrome,Neonatal,X-linked dominant
53,Albers-Schönberg osteopetrosis,Malformation syndrome,Disorder,LD24.10,0008156,Q78.2,166600,C3179239,,,383,Albers-Schönberg osteopetrosis,Childhood,Autosomal dominant
14,Abetalipoproteinemia,Disease,Disorder,5C81.1,0008692,E78.6,605019,C0000744,D000012,10083851,5,Abetalipoproteinemia,"Childhood, Infancy",Autosomal recessive
52,Alagille syndrome,Malformation syndrome,Disorder,LB20.0Y,0007318,Q44.7,610205,C0085280,D016738,10053870,804,Alagille syndrome,All ages,Autosomal dominant
167,Chédiak-Higashi syndrome,Disease,Disorder,EC23.20,0008963,E70.3,214500,C0007965,D002609,10008415,6035,Chédiak-Higashi syndrome,Childhood,Autosomal recessive
195,Cat-eye syndrome,Malformation syndrome,Disorder,LD41.P,0007276,Q92.8,115470,C0265493,C535918,,26,Cat-eye syndrome,"Antenatal, Neonatal",Not applicable
207,Crouzon syndrome,Malformation syndrome,Disorder,LD24.G1,0007405,Q75.1,123500,C0010273,,,6206,Crouzon syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
205,Crigler-Najjar syndrome,Disease,Disorder,5C58.00,0009044,E80.5,606785,C5551003,D003414,10011386,,Crigler-Najjar syndrome,"Infancy, Neonatal",Autosomal recessive
160148,Cap polyposis,Disease,Disorder,2E92.40,0015565,D12.6,,C4303971,,,,Cap polyposis,"Adolescent, Adult, Childhood, Elderly",Not applicable
201,Cowden syndrome,Clinical subtype,Subtype of disorder,LD2D.Y,0016063,Q85.8,616858,C0018553,D006223,10051906,6202,Cowden syndrome,All ages,Autosomal dominant
192,Coffin-Lowry syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010561,Q87.0,303600,C0265252,D038921,10081806,6123,Coffin-Lowry syndrome,"Childhood, Infancy, Neonatal",X-linked dominant
2442,X-linked lymphoproliferative disease,Clinical group,Group of disorders,4A01.22,0010627,,308240,C0549463,D008232,10068348,10915,X-linked lymphoproliferative disease,"Adolescent, Adult, Childhood, Infancy",X-linked recessive
169808,Mild hemophilia A,Clinical subtype,Subtype of disorder,3B10.0,0015721,D66,306700,C0272324,,,,Mild hemophilia A,"Infancy, Neonatal",X-linked recessive
169826,Congenital vitamin K-dependent coagulation factors deficiency,Category,Group of disorders,,,,,C5680448,,,,,,
169802,Severe hemophilia A,Clinical subtype,Subtype of disorder,3B10.0,0015719,D66,306700,C0272322,,,,Severe hemophilia A,"Infancy, Neonatal",X-linked recessive
169805,Moderate hemophilia A,Clinical subtype,Subtype of disorder,3B10.0,0015720,D66,306700,C0272323,,,,Moderate hemophilia A,"Infancy, Neonatal",X-linked recessive
562,McCune-Albright syndrome,Disease,Disorder,FB80.0,0018919,Q78.1,174800,C0242292,,10052032,6995,McCune-Albright syndrome,Childhood,Not applicable
565,Menkes disease,Disease,Disorder,5C64.0Y,0010651,E83.0,309400,C0022716,D007706,10027294,1521,Menkes disease,Neonatal,X-linked recessive
2443,Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,Category,Group of disorders,,,,,C5679573,,,,Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,All ages,Autosomal recessive
555,NON RARE IN EUROPE: Celiac disease,Disease,Disorder,,,K90.0,,,,10009839,,,,
474,Jeune syndrome,Malformation syndrome,Disorder,LD24.B1,0018770,Q77.2,208500,C0265275,C537571,10057621,3049,Jeune syndrome,"Antenatal, Neonatal",Autosomal recessive
540,Familial hemophagocytic lymphohistiocytosis,Disease,Disorder,4A01.23,0015541,D76.1,618998,C0272199,,10070904,6589,Familial hemophagocytic lymphohistiocytosis,"Adolescent, Infancy",Autosomal recessive
568,"Microphthalmia, Lenz type",Malformation syndrome,Disorder,LD21.0,0018924,Q11.2,309800,C0796016,C537464,,87,"Microphthalmia, Lenz type",Neonatal,X-linked recessive
564,Meckel syndrome,Malformation syndrome,Disorder,LD2F.13,0018921,Q61.9,614175,C0265215,,,3436,Meckel syndrome,Antenatal,Autosomal recessive
289,Ellis Van Creveld syndrome,Malformation syndrome,Disorder,LD27.0Y,0009162,Q77.6,619142,C0013903,D004613,10008724,1301,Ellis Van Creveld syndrome,"Antenatal, Neonatal",Autosomal recessive
258,Laminin subunit alpha 2-related congenital muscular dystrophy,Malformation syndrome,Disorder,,,G71.2,607855,C1263858,C537384,,3843,Laminin subunit alpha 2-related congenital muscular dystrophy,"Antenatal, Infancy, Neonatal",Autosomal recessive
1247,Schistosomiasis,Disease,Disorder,1F86,0015254,B65.9,181460,C0036323,D012552,10039603,9687,Schistosomiasis,All ages,Not applicable
112,Bartter syndrome,Disease,Disorder,GB90.43,0015231,E26.8,300971,C0004775,D001477,10050839,5893,Bartter syndrome,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
169446,OBSOLETE: Autosomal recessive hyper-IgE syndrome,Category,Group of disorders,,,,,,,,,,,
169443,Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells,Category,Group of disorders,4A01.02,,,,C5680449,,,,,,
1646,Chromosome Y microdeletion syndrome,Malformation syndrome,Disorder,5A81.1,0015607,Q98.6,415000,C5924994,C536297,,,Chromosome Y microdeletion syndrome,Adult,"Not applicable, Y-linked"
169464,Primary CD59 deficiency,Disease,Disorder,4A00.1Y,0012858,D84.1,612300,C4755276,,,,Primary CD59 deficiency,"Infancy, Neonatal",Autosomal recessive
99,Autosomal dominant cerebellar ataxia,Category,Group of disorders,8A03.1Y,0020380,,,C4087347,,,4346,Autosomal dominant cerebellar ataxia,All ages,Autosomal dominant
116,Beckwith-Wiedemann syndrome,Malformation syndrome,Disorder,LD2C,0007534,Q87.3,130650,C0004903,D001506,10050344,3343,Beckwith-Wiedemann syndrome,"Antenatal, Neonatal","Autosomal dominant, Unknown"
87,Apert syndrome,Malformation syndrome,Disorder,LD24.G2,0007041,Q87.0,101200,C0001193,,10002943,5833,Apert syndrome,"Antenatal, Neonatal",Autosomal dominant
169618,NON RARE IN EUROPE: Secondary central precocious puberty,Etiological subtype,Subtype of disorder,,,,,,,,,,,
169615,NON RARE IN EUROPE: Idiopathic central precocious puberty,Etiological subtype,Subtype of disorder,,,,,,,,,,,
97,Familial paroxysmal ataxia,Disease,Disorder,8A03.14,0007163,G11.8,108500,C1720416,,,9602,Familial paroxysmal ataxia,Childhood,Autosomal dominant
169467,Recurrent Neisseria infections due to factor D deficiency,Disease,Disorder,4A00.1Y,0013487,D84.1,613912,C5190780,,,,Recurrent Neisseria infections due to factor D deficiency,,Autosomal recessive
313,Lamellar ichthyosis,Disease,Disorder,EC20.02,0017778,Q80.2,617571,C5848247,D017490,10023686,10803,Lamellar ichthyosis,Neonatal,"Autosomal dominant, Autosomal recessive"
169799,Mild hemophilia B,Clinical subtype,Subtype of disorder,3B11.0,0015717,D67,306900,C5679574,,,,Mild hemophilia B,"Infancy, Neonatal",X-linked recessive
169796,Moderate hemophilia B,Clinical subtype,Subtype of disorder,3B11.0,0015716,D67,306900,C5679575,,,,Moderate hemophilia B,"Infancy, Neonatal",X-linked recessive
169793,Severe hemophilia B,Clinical subtype,Subtype of disorder,3B11.0,0015715,D67,306900,C5679576,,,,Severe hemophilia B,"Infancy, Neonatal",X-linked recessive
406,NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia,Disease,Disorder,,,E78.0,,,,,,,,
171220,Isolated rectal duplication,Morphological anomaly,Disorder,LB17.Y,0015734,Q43.4,,C4511483,,,,,,
1000,Ocular albinism with late-onset sensorineural deafness,Disease,Disorder,LD2H.Y,0010390,E70.3,300650,C1845069,C537043,,592,Ocular albinism with late-onset sensorineural deafness,Adult,X-linked recessive
999,Ermine phenotype,Malformation syndrome,Disorder,LD2H.Y,0009196,E70.3,227010,C1856899,C535508,,407,Ermine phenotype,Neonatal,Autosomal recessive
171430,Severe congenital nemaline myopathy,Disease,Disorder,8C72.00,0015735,G71.2,616165,C5680451,,,12821,Severe congenital nemaline myopathy,"Infancy, Neonatal",Autosomal recessive
171433,Intermediate nemaline myopathy,Disease,Disorder,8C72.00,0015736,G71.2,161800,C5680452,,,12823,Intermediate nemaline myopathy,Neonatal,"Autosomal dominant, Autosomal recessive"
171436,Typical nemaline myopathy,Disease,Disorder,8C72.00,0015737,G71.2,616165,C5680453,,,12822,Typical nemaline myopathy,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
171439,Childhood-onset nemaline myopathy,Disease,Disorder,8C72.00,0015738,G71.2,617336,C0546125,,,7171,Childhood-onset nemaline myopathy,Childhood,Autosomal dominant
55,Oculocutaneous albinism,Clinical group,Group of disorders,EC23.20,0018910,,,C0078918,D016115,,10958,Oculocutaneous albinism,Neonatal,Autosomal recessive
171442,Adult-onset nemaline myopathy,Disease,Disorder,8C72.00,0015739,G71.2,,C0546123,,,12824,Adult-onset nemaline myopathy,Adult,Not applicable
171445,Muscle filaminopathy,Disease,Disorder,8C76,0012289,G71.8,609524,C4707258,,,,Muscle filaminopathy,Adult,Autosomal dominant
171607,X-linked spastic paraplegia type 34,Disease,Disorder,8B44.02,0010418,G11.4,300750,C2677897,C567465,,,X-linked spastic paraplegia type 34,"Adolescent, Adult, Childhood",X-linked recessive
2771,Bruck syndrome,Malformation syndrome,Disorder,LD24.KY,0017195,M21.8,609220,C0432253,,10063718,1029,Bruck syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
106,NON RARE IN EUROPE: Autism,Malformation syndrome,Disorder,,,F84.0,,,,,,,,
171612,Autosomal dominant spastic paraplegia type 37,Disease,Disorder,8B44.00,0012766,G11.4,611945,C2936880,C567931,,,Autosomal dominant spastic paraplegia type 37,All ages,Autosomal dominant
171617,Autosomal dominant spastic paraplegia type 38,Disease,Disorder,8B44.00,0012867,G11.4,612335,C2676732,C567349,,,Autosomal dominant spastic paraplegia type 38,Childhood,Autosomal dominant
1349,Mitochondrial DNA-related cardiomyopathy and hearing loss,Malformation syndrome,Disorder,5D0Y,0015283,E88.8,,C4510409,,,,Mitochondrial DNA-related cardiomyopathy and hearing loss,"Adult, Childhood",Mitochondrial inheritance
171622,Autosomal recessive spastic paraplegia type 32,Disease,Disorder,8B44.01,0012643,G11.4,611252,C1970009,C566983,,12749,Autosomal recessive spastic paraplegia type 32,Childhood,Autosomal recessive
171629,Autosomal recessive spastic paraplegia type 35,Disease,Disorder,8B44.01,0012866,G11.4,612319,C3496228,C567311,,10538,Autosomal recessive spastic paraplegia type 35,"Adolescent, Childhood",Autosomal recessive
357,NON RARE IN EUROPE: Gilbert syndrome,Disease,Disorder,,,E80.4,,,,,,,,
861,Treacher-Collins syndrome,Malformation syndrome,Disorder,LD2F.16,0002457,Q75.4,613717,C0242387,,,9124,Treacher-Collins syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
308,Progressive myoclonic epilepsy type 1,Disease,Disorder,8A61.41,0009698,G40.3,612437,C0751785,D020194,10054895,3876,Progressive myoclonic epilepsy type 1,"Adolescent, Childhood",Autosomal recessive
1991,Cleft lip with or without cleft palate,Clinical group,Group of disorders,,,,,C0810364,,,,,,
199,Cornelia de Lange syndrome,Malformation syndrome,Disorder,LD2F.1Y,0016033,Q87.1,620568,C0270972,D003635,10077707,10109,Cornelia de Lange syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable, X-linked recessive"
171201,OBSOLETE: High isolated anorectal malformation,Morphological anomaly,Disorder,,,,,,,,,,,
2162,Holoprosencephaly,Malformation syndrome,Disorder,LA05.2,0016296,Q04.2,609408,C0079541,D016142,10056304,6665,Holoprosencephaly,"Antenatal, Neonatal","Autosomal recessive, Multigenic/multifactorial, Not applicable, Oligogenic, X-linked dominant"
930,Idiopathic achalasia,Disease,Disorder,DA21.0,0019635,K22.0,200400,C0859976,C536011,10036669,5708,Idiopathic achalasia,All ages,"Autosomal recessive, Not applicable"
171215,OBSOLETE: Low isolated anorectal malformation,Morphological anomaly,Disorder,,,,,,,,,,,
998,Albinism-deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0010403,H90.5,300700,C1845068,C537042,,589,Albinism-deafness syndrome,Neonatal,X-linked recessive
171208,OBSOLETE: Intermediate isolated anorectal malformation,Morphological anomaly,Disorder,,,,,,,,,,,
1727,22q11.2 duplication syndrome,Malformation syndrome,Disorder,LD41.M,0012020,Q92.3,608363,C2675369,C567224,,10557,22q11.2 duplication syndrome,All ages,Autosomal dominant
169079,Cernunnos-XLF deficiency,Disease,Disorder,4A01.1Y,0012650,D81.1,611291,C4303792,,,,Cernunnos-XLF deficiency,"Infancy, Neonatal",Autosomal recessive
1716,Distal duplication 18q syndrome,Malformation syndrome,Disorder,,0015741,Q92.3,,C5190516,,,,Distal duplication 18q syndrome,"Antenatal, Neonatal",
1715,Trisomy 18p syndrome,Malformation syndrome,Disorder,LD41.H1,0015740,Q92.2,,C2931811,C538307,,5323,Trisomy 18p syndrome,"Adolescent, Adult, Childhood, Infancy",
3380,Trisomy 18 syndrome,Malformation syndrome,Disorder,LD40.2,0018071,Q91.3,,C4317091,D000073842,10053884,6321,Trisomy 18 syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
168984,CLAPO syndrome,Malformation syndrome,Disorder,LD2C,0013125,Q87.3,613089,C2751313,C567763,,,CLAPO syndrome,"Antenatal, Infancy, Neonatal",Unknown
1707,Distal duplication 15q syndrome,Etiological subtype,Subtype of disorder,LD2C,0015728,Q92.3,,C2931705,C538036,,,Distal duplication 15q syndrome,"Antenatal, Neonatal",
168999,Malignant melanoma of the mucosa,Disease,Disorder,,0015694,C43.9,,C5191057,,,,Malignant melanoma of the mucosa,"Adult, Elderly",
3378,Trisomy 13 syndrome,Malformation syndrome,Disorder,LD40.1,0018068,Q91.7,,C2936830,D000073839,10044686,7341,Trisomy 13 syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
168972,Kahrizi syndrome,Disease,Disorder,,,,612713,C2675185,,,,,,
169110,Immunoglobulin heavy chain deficiency,Disease,Disorder,4A01.04,0015697,D80.8,,C0398692,,,,,,
169100,Immunodeficiency due to CD25 deficiency,Disease,Disorder,4A01.21,0011664,D89.8,606367,C4755277,,,,Immunodeficiency due to CD25 deficiency,Infancy,Autosomal recessive
169105,Thymoma-hypogammaglobulinemia syndrome,Disease,Disorder,4B40.2,0015696,D81.8,,C0221027,,10079838,8622,Thymoma-hypogammaglobulinemia syndrome,Adult,
169090,Combined immunodeficiency due to CRAC channel dysfunction,Disease,Disorder,4A01.1Y,0015695,D81.8,612783,C4303571,,,,Combined immunodeficiency due to CRAC channel dysfunction,"Infancy, Neonatal",Autosomal recessive
236,Trisomy 9p syndrome,Malformation syndrome,Disorder,LD41.81,0016526,Q92.2,,C0265428,,,,Trisomy 9p syndrome,"Antenatal, Neonatal",
169095,Severe combined immunodeficiency due to FOXN1 deficiency,Disease,Disorder,4A01.1Y,0011132,D82.8,601705,C1866426,C536781,,4358,Severe combined immunodeficiency due to FOXN1 deficiency,"Infancy, Neonatal",Autosomal recessive
169082,Combined immunodeficiency due to CD3gamma deficiency,Disease,Disorder,4A01.1Y,0014276,D81.2,615607,C4510864,,,,Combined immunodeficiency due to CD3gamma deficiency,Infancy,Autosomal recessive
169085,Susceptibility to respiratory infections associated with CD8alpha chain mutation,Disease,Disorder,4A01.1Y,0012161,D84.8,608957,C1837065,C563824,,,Susceptibility to respiratory infections associated with CD8alpha chain mutation,"Infancy, Neonatal",Autosomal recessive
168829,Primary peritoneal carcinoma,Disease,Disorder,,0015686,C48.2,,C0334361,,,,Primary peritoneal carcinoma,Adult,Unknown
168816,Peritoneal inclusion cyst,Disease,Disorder,,6363,C45.1,,C1334818,,,10777,Peritoneal inclusion cyst,Adult,Unknown
753,"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency",Disease,Disorder,LD2A.3,0009923,E29.1,264600,C0268297,C535830,10000029,5680,"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency","Adolescent, Childhood, Infancy, Neonatal",Autosomal recessive
868,Triose phosphate-isomerase deficiency,Disease,Disorder,3A10.Y,0014221,D55.2,615512,C0398562,,,5287,Triose phosphate-isomerase deficiency,Neonatal,Autosomal recessive
168811,Malignant peritoneal mesothelioma,Disease,Disorder,2C51.2,0005512,C45.1,,C0346109,,10056558,,Malignant peritoneal mesothelioma,Adult,"Multigenic/multifactorial, Not applicable"
168807,Primary malignant peritoneal tumor,Category,Group of disorders,,,,,C5680454,,,,,,
168803,Primary peritoneal tumor,Category,Group of disorders,,,,,C5680455,,,,,,
218,Darier disease,Disease,Disorder,EC20.2,0007417,Q82.8,124200,C0022595,D007644,10023369,6243,Darier disease,"Adolescent, Adult, Childhood",Autosomal dominant
168796,"Heart-hand syndrome, Slovenian type",Malformation syndrome,Disorder,LD2F.1Y,0012417,Q87.2,610140,C1857829,C535852,,9846,"Heart-hand syndrome, Slovenian type",Adult,Autosomal dominant
1465,Coffin-Siris syndrome,Malformation syndrome,Disorder,LD27.0Y,0015452,Q87.1,618362,C0265338,C536436,10083941,6124,Coffin-Siris syndrome,"Antenatal, Neonatal",Autosomal dominant
168782,Childhood disintegrative disorder,Disease,Disorder,6A02.3,0015681,F84.3,,C0236791,,10008522,6040,Childhood disintegrative disorder,Childhood,Not applicable
1642,Distal deletion 9p syndrome,Malformation syndrome,Disorder,,0015605,Q93.5,,C0265425,C538025,,,Distal deletion 9p syndrome,"Infancy, Neonatal",
168966,Composite lymphoma,Disease,Disorder,XH3BP6,0005710,C81.7,,C0545080,D058617,10073957,,Composite lymphoma,"Adult, Elderly",
168960,Refractory anemia with excess blasts in transformation,Disease,Disorder,2A34,0015692,D46.2,,C0280028,,10038271,,Refractory anemia with excess blasts in transformation,"Adolescent, Adult, Elderly",
8,"47,XYY syndrome",Malformation syndrome,Disorder,LD52.1,0019339,Q98.5,,C3266843,C535317,10056894,5674,"47,XYY syndrome",All ages,Not applicable
1636,Distal monosomy 7q36 syndrome,Malformation syndrome,Disorder,LD44.70,0015580,Q93.5,,C4706504,,,,Distal monosomy 7q36 syndrome,"Antenatal, Neonatal",
168956,Hypereosinophilic syndrome,Clinical group,Group of disorders,,0015691,,,C1540912,D017681,10048643,2804,Hypereosinophilic syndrome,All ages,"Not applicable, Unknown"
168953,Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement,Disease,Disorder,2A52,0013296,C92.7,613523,C3150773,,,,,,
168950,Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement,Disease,Disorder,2A51,0015690,C92.7,,C3472621,,,,,,
1600,Monosomy 18q syndrome,Malformation syndrome,Disorder,,0011147,Q93.5,601808,C0432443,C536580,,10865,Monosomy 18q syndrome,"Antenatal, Neonatal",Autosomal dominant
168947,Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement,Disease,Disorder,2A50,0015689,C92.7,,C4545381,,,,,,
168943,"Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2",Category,Group of disorders,,0015688,,,C5680457,,,,,,
1598,Monosomy 18p syndrome,Disease,Disorder,,,Q93.5,146390,C0432442,C538309,,8631,Monosomy 18p syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
168940,Chronic eosinophilic leukemia,Disease,Disorder,2A20.3,0015687,D47.5,,C0346421,,10065854,,Chronic eosinophilic leukemia,"Adolescent, Adult, Childhood",Not applicable
2773,Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,Malformation syndrome,Disorder,LD24.KY,0017196,Q87.8,,C4302824,,,587,Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,"Infancy, Neonatal",Unknown
2772,Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,Malformation syndrome,Disorder,LD24.KY,0009803,Q78.0,259410,C1850184,C537558,,,Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,"Antenatal, Neonatal",Autosomal recessive
2609,Isolated complex I deficiency,Disease,Disorder,5C53.2Y,0100133,G71.3,618242,C1838979,C537475,,3908,Isolated complex I deficiency,All ages,"Autosomal recessive, Mitochondrial inheritance, X-linked dominant"
169361,Immune dysregulation disease with immunodeficiency,Category,Group of disorders,,,,,C5680458,,,,,,
626,Large/giant congenital melanocytic nevus,Disease,Disorder,2F20.20,0044792,D22.9,137550,C1842036,,10072036,2469,Large/giant congenital melanocytic nevus,"Infancy, Neonatal",Multigenic/multifactorial
773,Adult Refsum disease,Disease,Disorder,5C57.1,0009958,G60.1,614879,C0034960,D012035,10038275,5691,Adult Refsum disease,"Adolescent, Adult, Childhood",Autosomal recessive
11,Pentasomy X syndrome,Malformation syndrome,Disorder,LD50.Y,0015228,Q97.1,,C2937419,C535319,,5678,Pentasomy X syndrome,Neonatal,
169154,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,Disease,Disorder,4A01.10,0015701,D81.2,608971,C5679577,,,,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,Infancy,Autosomal recessive
370,Glycogen storage disease due to phosphorylase kinase deficiency,Clinical group,Group of disorders,5C51.3,,,,C5848056,C580130,10083034,,Glycogen storage disease due to phosphorylase kinase deficiency,All ages,"Autosomal recessive, X-linked recessive"
169150,Immunodeficiency due to a late component of complement deficiency,Disease,Disorder,4A00.11,0015700,D84.1,609536,C0398765,,,,Immunodeficiency due to a late component of complement deficiency,,Autosomal recessive
169160,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,Disease,Disorder,4A01.10,0015703,D81.2,615617,C5679578,,,,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,Infancy,Autosomal recessive
385,Neurodegeneration with brain iron accumulation,Clinical group,Group of disorders,,0018307,,,C2931845,C538421,,11899,Neurodegeneration with brain iron accumulation,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive, X-linked dominant"
169157,T-B+ severe combined immunodeficiency due to CD45 deficiency,Disease,Disorder,4A01.10,0015702,D81.2,619924,C5679579,,,,T-B+ severe combined immunodeficiency due to CD45 deficiency,Infancy,Autosomal recessive
169139,Transient hypogammaglobulinemia of infancy,Disease,Disorder,4A01.03,0015698,D80.7,,C0272238,,10044388,,,,
1947,Northern epilepsy,Clinical subtype,Subtype of disorder,5C56.1,0012391,,610003,C1864923,,,4010,Northern epilepsy,Childhood,Autosomal recessive
169147,Immunodeficiency due to a classical component pathway complement deficiency,Disease,Disorder,4A00.10,0015699,D84.1,614380,C0398750,,,1452,Immunodeficiency due to a classical component pathway complement deficiency,,Autosomal recessive
169142,Recurrent infections due to specific granule deficiency,Disease,Disorder,4A00.0Y,9506,D71,245480,C5546032,,,10778,Recurrent infections due to specific granule deficiency,"Infancy, Neonatal",Autosomal recessive
352,Galactosemia,Category,Group of disorders,5C51.4Y,0018116,,230400,C0016952,D005693,10017604,2424,Galactosemia,"Childhood, Infancy, Neonatal",Autosomal recessive
596,X-linked centronuclear myopathy,Disease,Disorder,8C72.01,0010683,G71.2,310400,C0410203,,,11925,X-linked centronuclear myopathy,"Antenatal, Neonatal",X-linked recessive
169349,Immuno-osseous dysplasia,Clinical group,Group of disorders,4A01.32,0015708,,,C0432218,,,,,,
169346,DNA repair defect other than combined T-cell and B-cell immunodeficiencies,Category,Group of disorders,4A01.31,,,,C5680459,,,,,,
169355,Immunodeficiency syndrome with autoimmunity,Category,Group of disorders,4A01.21,,,,C5680460,,,,,,
610,Bethlem muscular dystrophy,Disease,Disorder,8C70.6,0008029,G71.0,616471,C1834674,C535436,,873,Bethlem muscular dystrophy,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
169186,Autosomal recessive centronuclear myopathy,Disease,Disorder,8C72.01,0015705,G71.2,615959,C0410204,C562934,,12718,Autosomal recessive centronuclear myopathy,"Childhood, Infancy, Neonatal",Autosomal recessive
464,Incontinentia pigmenti,Malformation syndrome,Disorder,LD27.00,0010631,Q82.3,308300,C0021171,D007184,10077624,6778,Incontinentia pigmenti,Neonatal,X-linked dominant
3307,Tetrasomy 18p syndrome,Malformation syndrome,Disorder,LD7Y,0013668,Q99.8,614290,C0795868,C538306,,35,Tetrasomy 18p syndrome,"Antenatal, Neonatal",Not applicable
169163,Familial scaphocephaly syndrome,Category,Group of disorders,,0015704,,,C3267076,,10072229,,,,
484,NON RARE IN EUROPE: Klinefelter syndrome,Malformation syndrome,Disorder,,,Q98.0,,,,,,,,
169189,Autosomal dominant centronuclear myopathy,Disease,Disorder,8C72.01,0008048,G71.2,160150,C1834558,,,12719,Autosomal dominant centronuclear myopathy,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
3084,Mirhosseini-Holmes-Walton syndrome,Malformation syndrome,Disorder,,,,268050,C0796072,,,,,,
44,Neonatal adrenoleukodystrophy,Disease,Disorder,5A74.Y,0018598,E71.3,617370,C0282525,,,559,Neonatal adrenoleukodystrophy,"Childhood, Infancy, Neonatal",Autosomal recessive
56,Alkaptonuria,Disease,Disorder,5C50.10,0008753,E70.2,203500,C0002066,D000474,10001689,5775,Alkaptonuria,"Adult, Infancy",Autosomal recessive
963,Acromegaly,Disease,Disorder,5A60.0,0019933,E22.0,300943,C0001206,D000172,10000599,5725,Acromegaly,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
1059,Blue rubber bleb nevus,Malformation syndrome,Disorder,LC51,0007203,Q27.8,112200,C0346072,C536240,,5940,Blue rubber bleb nevus,Childhood,"Autosomal dominant, Not applicable"
1006,Alopecia antibody deficiency,Disease,Disorder,,0015082,D80.8,,C5190867,,,,Alopecia antibody deficiency,"Childhood, Infancy",Unknown
1046,Lethal hemolytic anemia-genital anomalies syndrome,Malformation syndrome,Disorder,3A10.Y,0010891,D58.8,600461,C4304746,,,2642,Lethal hemolytic anemia-genital anomalies syndrome,Neonatal,Unknown
22,Succinic semialdehyde dehydrogenase deficiency,Disease,Disorder,5C50.E1,0010083,E72.8,271980,C0268631,C535803,,7695,Succinic semialdehyde dehydrogenase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
29,Mevalonic aciduria,Clinical subtype,Subtype of disorder,5C52.10,0012481,E88.8,610377,C1959626,,10072219,3588,Mevalonic aciduria,"Childhood, Infancy, Neonatal",Autosomal recessive
245,Nager syndrome,Malformation syndrome,Disorder,LD25.2,0007943,Q75.4,154400,C0265245,C538184,10084410,498,Nager syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
30,Hereditary orotic aciduria,Disease,Disorder,3A03.0,0009797,E79.8,258900,C0220987,C537136,10052621,5429,Hereditary orotic aciduria,"Infancy, Neonatal",Autosomal recessive
36,Acrocallosal syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008708,Q04.0,200990,C0796147,D055673,10083865,5721,Acrocallosal syndrome,"Antenatal, Neonatal",Autosomal recessive
915,Aarskog-Scott syndrome,Malformation syndrome,Disorder,LD2F.1Y,0021005,Q87.1,305400,C0175701,C535331,10067148,4775,Aarskog-Scott syndrome,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
2614,Nail-patella syndrome,Malformation syndrome,Disorder,LD24.J0,0008061,Q87.2,161200,C0027341,D009261,10063431,7160,Nail-patella syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
33,Isovaleric acidemia,Disease,Disorder,5C50.E0,0009475,E71.1,243500,C0268575,C538167,10083852,465,Isovaleric acidemia,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
168194,Rare cardiac tumor,Category,Group of disorders,,,,,C5680461,,,,,,
924,NON RARE IN EUROPE: Acanthosis nigricans,Disease,Disorder,,,L83,,,,,,,,
819,Smith-Magenis syndrome,Malformation syndrome,Disorder,LD44.H1,0008434,Q93.5,182290,C0795864,D058496,10081680,8197,Smith-Magenis syndrome,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
3085,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,Malformation syndrome,Disorder,LD2H.Y,0009983,Q87.8,268020,C4518330,,,4683,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,Childhood,Autosomal recessive
9,Tetrasomy X syndrome,Malformation syndrome,Disorder,LD50.Y,0019525,Q97.1,,C0265496,C536502,,7754,Tetrasomy X syndrome,"Infancy, Neonatal",
168615,Hereditary persistence of alpha-fetoprotein,Biological anomaly,Disorder,,0014425,R77.2,615970,C1863080,,,,Hereditary persistence of alpha-fetoprotein,Adolescent,Autosomal dominant
168612,Congenital deficiency in alpha-fetoprotein,Biological anomaly,Disorder,,0014424,R77.2,615969,C4274336,,,,Congenital deficiency in alpha-fetoprotein,"Antenatal, Neonatal",Autosomal recessive
1442,Ring chromosome 18 syndrome,Malformation syndrome,Disorder,LD7Y,0015434,Q93.2,,C0265475,C538304,,6077,Ring chromosome 18 syndrome,"Antenatal, Infancy, Neonatal",
168621,"Dysplasia of head of femur, Meyer type",Disease,Disorder,LD24.6Y,0015678,Q78.8,,C4274970,,,,"Dysplasia of head of femur, Meyer type","Infancy, Neonatal",
1452,Cleidocranial dysplasia,Malformation syndrome,Disorder,LD24.2Y,,Q74.0,119600,C0008928,D002973,10075994,6118,Cleidocranial dysplasia,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
1455,OBSOLETE: Autosomal dominant coarctation of aorta,Clinical subtype,Subtype of disorder,,,,,,,,,,,
168629,Autosomal thrombocytopenia with normal platelets,Etiological subtype,Subtype of disorder,,,D69.4,612004,C5680462,,,,Autosomal thrombocytopenia with normal platelets,,"Autosomal dominant, Autosomal recessive"
193,Cohen syndrome,Malformation syndrome,Disorder,LD90.Y,0008999,Q87.8,216550,C0265223,C536438,10049066,6126,Cohen syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
168624,"Familial scaphocephaly syndrome, McGillivray type",Malformation syndrome,Disorder,LD24.GY,0012307,Q87.0,609579,C4510730,,,3426,"Familial scaphocephaly syndrome, McGillivray type","Infancy, Neonatal",Autosomal dominant
168778,Rare pervasive developmental disorder,Category,Group of disorders,,,,,C5679581,D002659,10061345,,,,
1488,Cooper-Jabs syndrome,Malformation syndrome,Disorder,,0008850,Q87.8,209770,C4303864,,,,Cooper-Jabs syndrome,Neonatal,Autosomal recessive
200,Isolated corpus callosum agenesis,Morphological anomaly,Disorder,LA05.3,0026419,Q04.0,,C0175754,D061085,,,Isolated corpus callosum agenesis,Antenatal,Not applicable
168632,Generalized basaloid follicular hamartoma syndrome,Disease,Disorder,,0011605,Q82.5,605827,C4707879,,,,Generalized basaloid follicular hamartoma syndrome,,Autosomal dominant
1334,Chronic mucocutaneous candidiasis,Disease,Disorder,1F23.14,0015279,B37.2,616445,C0006845,D002178,10009007,1077,Chronic mucocutaneous candidiasis,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
168583,Hereditary North American Indian childhood cirrhosis,Clinical subtype,Subtype of disorder,DB93.20,0011497,K74.6,604901,C1858051,C565737,,,Hereditary North American Indian childhood cirrhosis,"Infancy, Neonatal",Autosomal recessive
1369,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,Disease,Disorder,5C53.Y,0008922,Q87.8,615418,C1859317,C538280,,1142,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,"Infancy, Neonatal",Autosomal recessive
168577,Hereditary cryohydrocytosis with reduced stomatin,Disease,Disorder,3A10.Y,0012143,D58.8,608885,C5190707,,,,Hereditary cryohydrocytosis with reduced stomatin,"Infancy, Neonatal",Autosomal dominant
168593,Sudden infant death-dysgenesis of the testes syndrome,Malformation syndrome,Disorder,MH11.Z,0012124,G90.8,608800,C1837371,C563856,,12382,Sudden infant death-dysgenesis of the testes syndrome,"Infancy, Neonatal",Autosomal recessive
1406,Charlie M syndrome,Malformation syndrome,Disorder,LD25.0Y,0015367,Q87.0,,C4518555,,,1261,Charlie M syndrome,Neonatal,Not applicable
168588,Hyperandrogenism due to cortisone reductase deficiency,Malformation syndrome,Disorder,5A71.Y,0000193,E25.8,614662,C4329210,,,9882,Hyperandrogenism due to cortisone reductase deficiency,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
168601,Congenital enteropathy due to enteropeptidase deficiency,Disease,Disorder,DA90.Y,0009173,K90.8,226200,C0268416,C562649,,,Congenital enteropathy due to enteropeptidase deficiency,"Infancy, Neonatal",Autosomal recessive
1414,Cholestasis-lymphedema syndrome,Disease,Disorder,DB99.6Y,0008966,Q82.0,214900,C0268314,C535330,,370,Cholestasis-lymphedema syndrome,"Infancy, Neonatal",Autosomal recessive
168598,Methionine adenosyltransferase I/III deficiency,Disease,Disorder,5C50.B,0009607,E72.1,250850,C0268621,,,,Methionine adenosyltransferase I/III deficiency,Infancy,Autosomal recessive
1417,OBSOLETE: Platyspondylic lethal chondrodysplasia,Malformation syndrome,Disorder,,,,,,,,,,,
168609,Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure,Etiological subtype,Subtype of disorder,,,,,,,,,,,
168606,Seborrhea-like dermatitis with psoriasiform elements,Disease,Disorder,,0012446,L21.8,610227,C1853258,C565217,,,Seborrhea-like dermatitis with psoriasiform elements,Childhood,Autosomal dominant
1155,OBSOLETE: Arthrogryposis due to muscular dystrophy,Disease,Disorder,,,,,,,,,,,
168549,Axial spondylometaphyseal dysplasia,Disease,Disorder,LD24.4,0011211,Q77.8,602271,C1865695,C535795,,8720,Axial spondylometaphyseal dysplasia,"Childhood, Infancy",Autosomal recessive
168552,Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,Disease,Disorder,LD24.4,0011856,Q77.8,607543,C5190708,C535791,,8719,Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,Infancy,Autosomal recessive
1154,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,Malformation syndrome,Disorder,LD26.4Y,0007158,Q68.8,108145,C1862472,C537737,,4047,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
168555,"Spondylometaphyseal dysplasia, A4 type",Disease,Disorder,LD24.4,0012185,Q77.8,609052,C1836862,C563803,,458,"Spondylometaphyseal dysplasia, A4 type",Infancy,Autosomal recessive
1162,NON RARE IN EUROPE: Asperger syndrome,Disease,Disorder,,,F84.5,,,,,,,,
168558,"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency",Disease,Disorder,,0013400,Q56.1,613743,C5190811,,,,"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency","Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
168563,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",Malformation syndrome,Disorder,LD2A.1,0011766,Q56.1,607080,C5190810,,,,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome","Infancy, Neonatal",Autosomal recessive
124,Diamond-Blackfan anemia,Disease,Disorder,3A60.1,0015253,D61.0,620072,C0265265,D029503,10062989,6274,Diamond-Blackfan anemia,"Childhood, Infancy, Neonatal",Autosomal dominant
1232,NON RARE IN EUROPE: Barrett esophagus,Disease,Disorder,,,K22.7,,,,,,,,
168566,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,Disease,Disorder,5C53.23,0012512,E88.8,610505,C4303760,,,,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,"Infancy, Neonatal",Autosomal recessive
1310,Caffey disease,Malformation syndrome,Disorder,LD24.1Y,0007244,M89.8,114000,C0020497,D006958,10073206,1051,Caffey disease,"Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Unknown"
168569,H syndrome,Malformation syndrome,Disorder,LD27.Y,0011273,D76.3,602782,C1864445,,,10239,H syndrome,Childhood,Autosomal recessive
168572,Native American myopathy,Malformation syndrome,Disorder,8C72.Y,0009722,G71.2,255995,C1850625,C538343,,8432,Native American myopathy,"Infancy, Neonatal",Autosomal recessive
125,Bloom syndrome,Disease,Disorder,4A01.31,0008876,Q82.8,210900,C0005859,D001816,10073032,915,Bloom syndrome,"Antenatal, Neonatal",Autosomal recessive
90,Argininemia,Disease,Disorder,5C50.A2,0008814,E72.2,207800,C0268548,D020162,10062695,5840,Argininemia,"Childhood, Infancy",Autosomal recessive
168443,Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,Disease,Disorder,LD24.3,0008469,Q77.7,183849,C1866728,C535783,,10101,Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,"Infancy, Neonatal",
1065,Aniridia-cerebellar ataxia-intellectual disability syndrome,Malformation syndrome,Disorder,,0008795,G11.0,206700,C0431401,C536370,10083858,13,Aniridia-cerebellar ataxia-intellectual disability syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
168448,"Spondyloepimetaphyseal dysplasia, Bieganski type",Disease,Disorder,,,,,,,,,,,
168451,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,Disease,Disorder,LD24.3,0011124,Q77.7,601668,C1866507,,,,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,Infancy,
1135,Arrhinia-choanal atresia-microphthalmia syndrome,Malformation syndrome,Disorder,,0015238,,,C1863878,,,8755,,,
168454,"Spondyloepimetaphyseal dysplasia, Geneviève type",Disease,Disorder,LD24.3,0012495,Q77.7,610442,C1864872,C535785,,10057,"Spondyloepimetaphyseal dysplasia, Geneviève type",Infancy,Autosomal recessive
1146,Distal arthrogryposis type 1,Malformation syndrome,Disorder,LD26.4Y,0015240,Q68.8,619110,C0220662,C535378,,787,Distal arthrogryposis type 1,"Antenatal, Neonatal",Autosomal dominant
1143,Neurogenic arthrogryposis multiplex congenita,Disease,Disorder,LD26.41,0008823,Q74.3,208100,C1859721,C536614,,790,Neurogenic arthrogryposis multiplex congenita,Neonatal,Autosomal recessive
168486,OBSOLETE: Congenital neuronal ceroid lipofuscinosis,Disease,Disorder,,,,,,,,,,,
168491,OBSOLETE: Late infantile neuronal ceroid lipofuscinosis,Disease,Disorder,,,,,,,,,,,
168544,"Spondylometaphyseal dysplasia, Golden type",Disease,Disorder,LD24.4,0010738,Q77.8,313420,C0796172,,,8343,"Spondylometaphyseal dysplasia, Golden type",No data available,X-linked recessive
1147,Sheldon-Hall syndrome,Malformation syndrome,Disorder,LD26.4Y,0011128,Q68.8,601680,C1834523,C538400,,,Sheldon-Hall syndrome,Neonatal,"Autosomal dominant, Not applicable"
246,Postaxial acrofacial dysostosis,Malformation syndrome,Disorder,LD25.2,0009903,Q75.4,263750,C0265257,C537680,,8410,Postaxial acrofacial dysostosis,"Antenatal, Neonatal",Autosomal recessive
1819,OBSOLETE: Epimetaphyseal skeletal dysplasia,Malformation syndrome,Disorder,,,,,,,,,,,
1770,XY type gonadal dysgenesis-associated anomalies syndrome,Malformation syndrome,Disorder,,0009302,Q99.1,618419,C1856272,C565536,,2541,XY type gonadal dysgenesis-associated anomalies syndrome,Neonatal,Autosomal recessive
1775,Dyskeratosis congenita,Disease,Disorder,3A70.0,0015780,Q82.8,616353,C0265965,D019871,10062759,10905,Dyskeratosis congenita,"Adolescent, Adult, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
1764,Familial dysautonomia,Disease,Disorder,8C21.1,0009131,G90.1,223900,C0013364,D004402,10039179,7581,Familial dysautonomia,"Childhood, Infancy, Neonatal",Autosomal recessive
235,Dubowitz syndrome,Malformation syndrome,Disorder,LD27.0Y,0009124,Q87.1,223370,C0175691,C535718,10059589,6290,Dubowitz syndrome,"Antenatal, Neonatal",Autosomal recessive
239,Dyggve-Melchior-Clausen disease,Disease,Disorder,LD24.3,0009130,Q77.7,304950,C0265286,C535726,,6295,Dyggve-Melchior-Clausen disease,Infancy,Autosomal recessive
167762,Rare disease with dentinogenesis imperfecta,Category,Group of disorders,,,,,C5680464,,,,,,
1672,Diencephalic syndrome,Disease,Disorder,5A61.Y,0015663,C72.8,,C0342436,,10087520,6276,Diencephalic syndrome,"Adolescent, Adult, Childhood, Infancy",Not applicable
167759,Hereditary dentin defect,Category,Group of disorders,,,,,C5680465,,,,,,
833,Encephalopathy due to sulfite oxidase deficiency,Disease,Disorder,5C50.B,0019358,E72.1,615501,C4275019,,,,Encephalopathy due to sulfite oxidase deficiency,"Antenatal, Infancy, Neonatal",Autosomal recessive
167714,Unclassified acute myeloid leukemia,Category,Group of disorders,,,,601626,C5679583,,,12760,,,
167635,Scleromyxedema,Disease,Disorder,EB90.11,0015665,L98.5,,C0263390,D053718,,7615,Scleromyxedema,Adult,
765,Pyruvate dehydrogenase deficiency,Disease,Disorder,5C53.02,0019169,E74.4,614111,C0034345,D015325,10084109,7513,Pyruvate dehydrogenase deficiency,"Childhood, Infancy, Neonatal","Autosomal recessive, Not applicable, X-linked dominant"
395,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,Disease,Disorder,5C63.1,0009353,E72.1,236250,C1856061,C537357,10070309,2734,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,"Infancy, Neonatal",Autosomal recessive
408,Isolated glycerol kinase deficiency,Disease,Disorder,5C51.1,0018459,E74.8,307030,C0574108,C538138,,2807,Isolated glycerol kinase deficiency,All ages,X-linked recessive
148,Multiple carboxylase deficiency,Clinical group,Group of disorders,,0015454,,,C0026755,D009100,10028176,3824,Multiple carboxylase deficiency,"Infancy, Neonatal",Autosomal recessive
147,Carbamoyl-phosphate synthetase 1 deficiency,Disease,Disorder,5C50.A1,0009376,E72.2,237300,C0751753,D020165,10058297,7269,Carbamoyl-phosphate synthetase 1 deficiency,All ages,Autosomal recessive
23,Argininosuccinic aciduria,Disease,Disorder,5C50.A0,0008815,E72.2,207900,C0268547,D056807,10058299,5843,Argininosuccinic aciduria,All ages,Autosomal recessive
45,Adenosine monophosphate deaminase deficiency,Disease,Disorder,5C55.0Y,0013028,G71.3,615511,C2931781,C538234,,547,Adenosine monophosphate deaminase deficiency,All ages,Autosomal recessive
166775,Rare hemorrhagic disorder due to an acquired coagulation factor defect,Category,Group of disorders,,,,,C5679584,,,,,,
226,Dihydropteridine reductase deficiency,Clinical subtype,Subtype of disorder,5C59.01,0009862,E70.1,261630,C0268465,,,4319,Dihydropteridine reductase deficiency,"Infancy, Neonatal",Autosomal recessive
217,Isolated Dandy-Walker malformation,Morphological anomaly,Disorder,LA06.0,0009072,Q03.1,220200,C2931867,,,6242,Isolated Dandy-Walker malformation,"Antenatal, Neonatal",Multigenic/multifactorial
1564,Dandy-Walker malformation-facial hemangioma syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1556,Cutis marmorata telangiectatica congenita,Malformation syndrome,Disorder,LC52,0009055,Q82.8,219250,C0345419,C536226,,6228,Cutis marmorata telangiectatica congenita,Neonatal,Not applicable
1538,Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007401,Q03.1,123155,C4304196,,,998,Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,Infancy,Autosomal dominant
1496,Corpus callosum agenesis-neuronopathy syndrome,Disease,Disorder,LD20.Y,0000902,G60.0,218000,C0795950,C536446,,1537,Corpus callosum agenesis-neuronopathy syndrome,"Antenatal, Neonatal",Autosomal recessive
417,Neonatal severe primary hyperparathyroidism,Disease,Disorder,5A51.0,0009397,E21.0,239200,C1832615,C563375,,2838,Neonatal severe primary hyperparathyroidism,Neonatal,"Autosomal recessive, Not applicable"
2233,Hypogonadism-mitral valve prolapse-intellectual disability syndrome,Disease,Disorder,LD2F.1,0016385,Q87.8,,C2931685,C537981,,1078,Hypogonadism-mitral valve prolapse-intellectual disability syndrome,Infancy,Unknown
2248,Hypoplastic left heart syndrome,Morphological anomaly,Disorder,LA89.3,0004933,Q23.4,614435,C0152101,D018636,10021076,6739,Hypoplastic left heart syndrome,"Antenatal, Neonatal",Unknown
446,Neonatal hemochromatosis,Disease,Disorder,5C64.10,0009275,E83.1,231100,C0268059,C536394,10078355,7172,Neonatal hemochromatosis,Neonatal,Autosomal recessive
2135,Cutaneous mastocytosis-deafness-microtia syndrome,Malformation syndrome,Disorder,,0009569,Q82.2,248910,C4302582,,,3409,Cutaneous mastocytosis-deafness-microtia syndrome,"Infancy, Neonatal",Autosomal recessive
2140,Congenital diaphragmatic hernia,Morphological anomaly,Disorder,LB00.0,0005711,Q79.0,610187,C0235833,D065630,10010439,1481,Congenital diaphragmatic hernia,Neonatal,"Multigenic/multifactorial, Not applicable"
2185,Congenital hydrocephalus,Malformation syndrome,Disorder,LA04,0016349,Q03.0,615219,C0020256,,10010506,6682,Congenital hydrocephalus,Antenatal,Not applicable
2113,Congenital hypothalamic hamartoma syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2116,Hartnup disease,Disease,Disorder,5C60.Y,0009324,E72.0,234500,C0018609,D006250,10019165,6569,Hartnup disease,All ages,Autosomal recessive
2118,Hawkinsinuria,Disease,Disorder,5C50.1Y,0007700,E70.2,140350,C2931042,C535845,,5668,Hawkinsinuria,"Infancy, Neonatal",Autosomal dominant
167848,Rare cardiomyopathy,Category,Group of disorders,,,,,C5680467,D009202,10007636,,,,
351,Galactosialidosis,Disease,Disorder,5C56.21,0009737,E77.1,256540,C0268233,C536411,10083306,3953,Galactosialidosis,All ages,Autosomal recessive
374,Goldenhar syndrome,Malformation syndrome,Disorder,,,,,,D006053,,,,,
2020,Congenital fiber-type disproportion myopathy,Disease,Disorder,8C72.1,0009711,G71.2,619967,C0546264,,,6161,Congenital fiber-type disproportion myopathy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
2005,OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2053,Freeman-Sheldon syndrome,Malformation syndrome,Disorder,LD26.4Y,0008675,Q87.0,277720,C0265224,C535483,10073655,6466,Freeman-Sheldon syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
1931,Frontal encephalocele,Clinical subtype,Subtype of disorder,LA01,0016020,Q01.0,,C0431289,,,,Frontal encephalocele,"Antenatal, Infancy, Neonatal",
295,Fetal parvovirus syndrome,Malformation syndrome,Disorder,KA62.7,0017453,P35.8,,C2931167,C536301,,4236,Fetal parvovirus syndrome,"Antenatal, Neonatal",Not applicable
1933,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",Disease,Disorder,5C53.20,0012791,G71.3,612073,C2749864,,,3681,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",Infancy,Mitochondrial inheritance
1880,Ebstein malformation of the tricuspid valve,Morphological anomaly,Disorder,LA87.03,0009144,Q22.5,224700,C0013481,D004437,10014075,6313,Ebstein malformation of the tricuspid valve,All ages,"Autosomal dominant, Not applicable"
255,Dopa-responsive dystonia,Clinical group,Group of disorders,8A02.11,0016812,,,C1851920,C538007,10080034,12144,Dopa-responsive dystonia,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable"
1915,Fetal alcohol syndrome,Malformation syndrome,Disorder,LD2F.00,0016011,Q86.0,,C0015923,D063647,10016845,,Fetal alcohol syndrome,"Antenatal, Neonatal",Not applicable
1885,Isolated ectopia lentis,Malformation syndrome,Disorder,LA12.Y,0015998,Q12.1,225200,C1851286,D004479,10014145,12251,Isolated ectopia lentis,All ages,"Autosomal dominant, Autosomal recessive"
1851,Multicystic dysplastic kidney,Morphological anomaly,Disorder,LB30.9,0015988,Q61.4,,C3714581,D021782,,,Multicystic dysplastic kidney,"Infancy, Neonatal",Not applicable
660,Omphalocele,Morphological anomaly,Disorder,LB01,0019015,Q79.2,310980,C0795690,D006554,10030308,,Omphalocele,Antenatal,Not applicable
180312,Rare vulvovaginal tumor,Category,Group of disorders,,,,,C5680468,,,,,,
635,Neuroblastoma,Disease,Disorder,2A00.11,0005072,C74.9,613015,C0027819,D009447,10029260,7185,Neuroblastoma,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Not applicable
2612,Linear nevus sebaceus syndrome,Disease,Disorder,LD2D.Y,0008097,Q85.8,163200,C4552097,D054000,,10291,Linear nevus sebaceus syndrome,"Childhood, Infancy, Neonatal",Not applicable
2635,Metatropic dysplasia,Disease,Disorder,LD24.3,0007986,Q77.8,156530,C0265281,C537356,10082970,3571,Metatropic dysplasia,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
2655,Thanatophoric dysplasia,Disease,Disorder,LD24.02,0017042,Q77.1,187601,C0039743,D013796,10089187,85,Thanatophoric dysplasia,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
180303,Rare non-malformative uterine adnexal disease,Category,Group of disorders,,,,,C5681841,,,,,,
606,Proximal myotonic myopathy,Disease,Disorder,8C71.0,0011266,G71.1,602668,C2931689,,,9728,Proximal myotonic myopathy,"Adolescent, Adult, Elderly",Autosomal dominant
705,Pendred syndrome,Malformation syndrome,Disorder,5A00.02,0010134,E07.1,274600,C0271829,C536648,10080398,4271,Pendred syndrome,"Infancy, Neonatal",Autosomal recessive
180779,Syndromic diaphragmatic or thoracic malformation,Category,Group of disorders,,,,,C5680469,,,,,,
2870,NON RARE IN EUROPE: Peyronie syndrome,Disease,Disorder,,,N48.6,,,,,,,,
180776,Non-syndromic diaphragmatic or thoracic malformation,Category,Group of disorders,,,,,C5680470,,,,,,
2801,Juvenile Paget disease,Malformation syndrome,Disorder,FB85.0,0009394,M88.9,239000,C0268414,C537701,10078977,2831,Juvenile Paget disease,Childhood,Autosomal recessive
884,Pallister-Killian syndrome,Malformation syndrome,Disorder,LD7Y,0011146,Q99.8,601803,C0265449,C538105,10080297,8421,Pallister-Killian syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
180772,Rare disease with autism,Category,Group of disorders,,,,,C5680471,,,10248,,,
180766,Malformative syndrome with dentinogenesis imperfecta,Category,Group of disorders,,,,,C5680472,,,,,,
2785,Osteopetrosis with renal tubular acidosis,Disease,Disorder,LD24.10,0009818,Q78.2,267200,C0345407,C536058,,4154,Osteopetrosis with renal tubular acidosis,"Infancy, Neonatal",Autosomal recessive
2744,Horizontal gaze palsy with progressive scoliosis,Disease,Disorder,9C83.00,0011810,H49.4,607313,C1846496,,,12682,Horizontal gaze palsy with progressive scoliosis,"Adolescent, Childhood",Autosomal recessive
2746,Opsismodysplasia,Disease,Disorder,LD24.5Y,0009785,Q78.8,258480,C0432219,C537122,,4098,Opsismodysplasia,Neonatal,Autosomal recessive
2971,Peroxisomal acyl-CoA oxidase deficiency,Disease,Disorder,5C57.1,0009919,E71.3,264470,C1849678,C536662,,4543,Peroxisomal acyl-CoA oxidase deficiency,Neonatal,Autosomal recessive
2970,Prune belly syndrome,Malformation syndrome,Disorder,LD2F.10,0007032,Q79.4,100100,C0033770,D011535,10051025,7479,Prune belly syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable, X-linked recessive"
744,Proteus syndrome,Malformation syndrome,Disorder,LD2C,0008318,Q87.3,176920,C0085261,D016715,10074067,7475,Proteus syndrome,Infancy,Not applicable
2903,Familial spontaneous pneumothorax,Disease,Disorder,CB21.1,0008259,J93.1,173600,C4275252,,,4997,Familial spontaneous pneumothorax,"Adolescent, Adult",Autosomal dominant
2901,Neuralgic amyotrophy,Disease,Disorder,8B91.0,0017362,G54.5,162100,C1510479,D020968,10029229,4228,Neuralgic amyotrophy,Adult,"Autosomal dominant, Not applicable"
718,Isolated Pierre Robin sequence,Malformation syndrome,Disorder,LA56,0009869,Q87.0,261800,C0031900,D010855,,4347,Isolated Pierre Robin sequence,"Antenatal, Neonatal","Autosomal dominant, Multigenic/multifactorial, Not applicable, Unknown"
180821,Rare gastroesophageal tumor,Category,Group of disorders,,,,,C5680473,,,,,,
180824,Rare tumor of pancreas,Category,Group of disorders,,,,,C5679585,,10061902,9364,,,
717,OBSOLETE: Catecholamine-producing tumor,Category,Group of disorders,,,,,,,,,,,
181387,Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism,Category,Group of disorders,,,,,C5680474,,,,,,
290,Congenital rubella syndrome,Disease,Disorder,KA62.8,0017361,P35.0,,C0035921,D012410,10083496,4744,Congenital rubella syndrome,"Antenatal, Neonatal",Not applicable
3071,Costello syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009026,Q87.8,218040,C0587248,D056685,10067380,1550,Costello syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
181390,Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature,Category,Group of disorders,,,,,C5680475,,,,,,
181381,Other rare diabetes mellitus,Category,Group of disorders,,,,,C5680476,,,,,,
181384,Rare hypothalamic or pituitary disease,Category,Group of disorders,,,,,C5680477,,,,,,
181371,Rare diabetes mellitus type 1,Category,Group of disorders,,,,,C5679586,,,,,,
763,Pycnodysostosis,Disease,Disorder,5C56.Y,0009940,Q78.8,265800,C0238402,D058631,10082973,4611,Pycnodysostosis,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
181376,Rare diabetes mellitus type 2,Category,Group of disorders,,,,,C5679587,,,,,,
2983,Difference of sex development-intellectual disability syndrome,Disease,Disorder,,0010824,Q56.3,600122,C2931233,C536539,,4550,Difference of sex development-intellectual disability syndrome,Neonatal,Unknown
2982,"46,XX difference of sex development",Category,Group of disorders,,0017576,,,C2936403,D058489,,,,,
181368,Rare insulin-resistance syndrome,Category,Group of disorders,5A44,,,,C5680478,,,,,,
2981,Pseudo-Zellweger syndrome,Disease,Disorder,,,,,C1533628,C535818,,,,,
180202,Rare non-malformative breast disease,Category,Group of disorders,,,,,C5680479,,,,,,
2301,Congenital short bowel syndrome,Morphological anomaly,Disorder,LB15.2,0014097,Q43.8,615237,C5441717,,,,Congenital short bowel syndrome,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
180199,Rare non-malformative gynecologic or obstetric disease,Category,Group of disorders,,,,,C5680480,,,,,,
469,Hereditary fructose intolerance,Disease,Disorder,5C51.50,0009249,E74.1,229600,C0016751,D005633,10019878,6622,Hereditary fructose intolerance,All ages,Autosomal recessive
180208,Anomaly of puberty or/and menstrual cycle,Category,Group of disorders,,,,,C5680481,,,,,,
2308,Jacobsen syndrome,Malformation syndrome,Disorder,LD44.B0,0007838,Q93.5,147791,C0795841,D054868,,307,Jacobsen syndrome,Antenatal,"Not applicable, Unknown"
180205,Rare non-malformative uterovaginal or vulvovaginal disease,Category,Group of disorders,,,,,C5681842,,,,,,
2318,Joubert syndrome with oculorenal defect,Malformation syndrome,Disorder,LD20.0Y,0009480,Q04.3,614844,C1855675,C537430,,9455,Joubert syndrome with oculorenal defect,"Infancy, Neonatal",Autosomal recessive
2253,Foveal hypoplasia-presenile cataract syndrome,Disease,Disorder,9C2Y,0016395,H26.0,136520,C2931644,C537858,,406,Foveal hypoplasia-presenile cataract syndrome,Adult,Autosomal dominant
180188,Isolated congenital breast hypoplasia/aplasia,Morphological anomaly,Disorder,LB60,0015855,Q83.0,616001,C0432357,C562989,,9489,Isolated congenital breast hypoplasia/aplasia,,Autosomal recessive
180182,Supernumerary breasts,Morphological anomaly,Disorder,LB62,0015854,Q83.1,,C0266010,,10049786,,,,
180193,Syndromic breast hypoplasia/aplasia,Category,Group of disorders,,0015856,,,C5680482,,,,,,
2300,Isolated multiple intestinal atresia,Morphological anomaly,Disorder,LB15.1,0009465,Q41.9,,C0220744,C562441,10028210,3013,Isolated multiple intestinal atresia,"Antenatal, Neonatal",Autosomal recessive
180226,Embryonal carcinoma,Disease,Disorder,,0005440,C71.9,,C0206659,D018236,,5140,Embryonal carcinoma,"Adolescent, Childhood",Not applicable
502,Trichorhinophalangeal syndrome type 2,Malformation syndrome,Disorder,LD24.80,0007874,Q87.8,150230,C0023003,D015826,10050638,7801,Trichorhinophalangeal syndrome type 2,"Childhood, Infancy, Neonatal",Autosomal dominant
180229,Polyembryoma,Disease,Disorder,,0015863,C80.9,,C0334518,,,9621,Polyembryoma,"Adolescent, Adult",Not applicable
2370,Larsen-like osseous dysplasia-short stature syndrome,Malformation syndrome,Disorder,LD24.E,0012055,Q74.8,608545,C4707236,,,,Larsen-like osseous dysplasia-short stature syndrome,Neonatal,
477,KID syndrome,Disease,Disorder,LD27.2,0018781,Q80.8,602540,C0265336,C536168,10048786,3113,KID syndrome,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable"
2343,OBSOLETE: Isolated cloverleaf skull syndrome,Morphological anomaly,Disorder,,,,,,,,,,,
180220,Rare uterine adnexal tumor,Category,Group of disorders,,,,,C5680483,,,,,,
2346,OBSOLETE: Angioosteohypertrophic syndrome,Clinical group,Group of disorders,,,,,,,,,,,
180247,Vaginal carcinoma,Disease,Disorder,2C71,0015867,C52,,C0262659,,,9348,Vaginal carcinoma,"Adult, Elderly",
506,Leigh syndrome,Disease,Disorder,5C53.24,0009723,G31.8,256000,C0023264,D007888,10062950,6877,Leigh syndrome,All ages,"Autosomal recessive, Mitochondrial inheritance, X-linked recessive"
180250,Rare breast tumor,Category,Group of disorders,,,,,C5680484,,,,,,
2430,Congenital macroglossia,Malformation syndrome,Disorder,LA31.0,0007927,Q38.2,153630,C0009677,C531735,,,Congenital macroglossia,Neonatal,
180253,Rare benign breast tumor,Category,Group of disorders,,,D24,,C5680485,,,,,,
2414,Congenital pulmonary lymphangiectasia,Disease,Disorder,LA75.Y,0009933,Q33.8,265300,C1849554,C537727,,9900,Congenital pulmonary lymphangiectasia,Neonatal,Autosomal recessive
2373,Congenital laryngomalacia,Malformation syndrome,Disorder,LA71.0,0007878,Q31.5,150280,C0345160,D055092,10060786,6865,Congenital laryngomalacia,"Infancy, Neonatal",
180234,Mixed germ cell tumor,Disease,Disorder,2D4Y,0015864,C80.9,,C0334524,,,,Mixed germ cell tumor,"Adolescent, Adult, Childhood",Not applicable
180237,Benign tumor of fallopian tubes,Disease,Disorder,2F33,0000645,D28.2,,C0346190,,10053865,,,,
2377,Laurence-Moon syndrome,Malformation syndrome,Disorder,LD90.Y,0009514,Q87.8,245800,C0023138,D007849,10056710,12635,Laurence-Moon syndrome,Neonatal,Autosomal recessive
2374,Isolated congenital laryngeal web,Malformation syndrome,Disorder,LA71.Y,0007880,Q31.0,150360,C5924995,,10023871,,Isolated congenital laryngeal web,"Infancy, Neonatal",
180242,Malignant tumor of fallopian tubes,Disease,Disorder,2C74,0002158,C57.0,,C0153579,,10025915,,Malignant tumor of fallopian tubes,"Adult, Elderly",Not applicable
2466,MASA syndrome,Clinical subtype,Subtype of disorder,8B44.02,0010559,G11.4,303350,C0795953,C536029,,6986,MASA syndrome,Neonatal,X-linked recessive
180275,Paget disease of the nipple,Disease,Disorder,2E65.5,0015873,C50.0,,C1704323,D010144,10033364,7303,Paget disease of the nipple,Adult,
560,Marshall syndrome,Malformation syndrome,Disorder,LD27.0Y,0007949,Q87.0,154780,C0265235,C536025,,6984,Marshall syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
587,Muir-Torre syndrome,Disease,Disorder,,,,158320,C1321489,D055653,10063042,6821,,,
180284,NON RARE IN EUROPE: Benign ductal tumor of breast,Disease,Disorder,,,,,,,,,,,
570,Moebius syndrome,Disease,Disorder,LD2F.1Y,0008006,Q87.0,157900,C0221060,D020331,10030069,8549,Moebius syndrome,"Antenatal, Neonatal",Autosomal dominant
1505,Short rib-polydactyly syndrome,Clinical group,Group of disorders,LD24.B0,0015461,,,C0036996,D012779,,,Short rib-polydactyly syndrome,"Antenatal, Neonatal",Autosomal recessive
180257,Rare malignant breast tumor,Category,Group of disorders,,,,,C5679588,,,,,,
180261,Phyllodes tumor of the breast,Disease,Disorder,2F30.3,,D48.6,,C0238031,D003557,10011813,9514,Phyllodes tumor of the breast,Adult,
2431,Central bilateral macrogyria,Disease,Disorder,,,,,,,,,,,
180267,Giant adenofibroma of the breast,Disease,Disorder,2F30.5,0015872,D24,,C0346157,,,,,,
2444,Congenital pulmonary airway malformation,Malformation syndrome,Disorder,LA75.4,0016580,Q33.0,,C0010668,D015615,10087693,,Congenital pulmonary airway malformation,"Adolescent, Adult, Antenatal, Neonatal",Not applicable
612,Potassium-aggravated myotonia,Clinical group,Group of disorders,,0018959,,608390,C2931826,C538353,,4459,Potassium-aggravated myotonia,Childhood,Autosomal dominant
179494,Obesity due to leptin receptor gene deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0013992,E66.8,614963,C5191640,,,,Obesity due to leptin receptor gene deficiency,"Childhood, Infancy",Autosomal recessive
716,Phenylketonuria,Disease,Disorder,5C50.0,0009861,E70.1,261600,C0031485,D010661,10034872,7383,Phenylketonuria,Infancy,Autosomal recessive
179490,Obesity due to congenital leptin resistance,Etiological subtype,Subtype of disorder,5B81.Y,,E66.8,,C5680486,,,,,,
180071,Unilateral aplasia of the Müllerian ducts,Clinical group,Group of disorders,,0015831,Q51.4,,,,,,,,
180068,Partial bilateral aplasia of the Müllerian ducts,Clinical group,Group of disorders,,0015830,,,C5679589,,,,,,
180065,Non-syndromic uterovaginal malformation,Category,Group of disorders,,,,,C5680487,,,,,,
287,Classical Ehlers-Danlos syndrome,Disease,Disorder,LD28.10,0007522,Q79.6,130000,C4225429,,,2088,Classical Ehlers-Danlos syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
180062,Uterovaginal malformation,Category,Group of disorders,,,,,C5680488,,,,,,
180106,Bicervical bicornuate uterus and blind hemivagina,Clinical subtype,Subtype of disorder,LB44.3,0015835,Q51.1,,C5680489,,,,,,
180086,Didelphys uterus,Morphological anomaly,Disorder,LB44.3,0015834,Q51.1,,C0266393,D000093642,10012770,,,,
180079,Pseudounicornuate uterus,Morphological anomaly,Disorder,LB44.2,0015833,Q51.4,,C4749300,,,,,,
180074,True unicornuate uterus,Morphological anomaly,Disorder,LB44.2,0015832,Q51.4,,C5848180,,,,,,
180122,Septate uterus,Clinical group,Group of disorders,LB44.4,0015839,,,C0152240,D000093665,10062606,,,,
180118,NON RARE IN EUROPE: Cordiform uterus,Morphological anomaly,Disorder,,,,,,,,,,,
180114,Unicervical bicornuate uterus,Morphological anomaly,Disorder,LB44.3,0015837,Q51.3,,C5680490,,,,,,
180111,Bicervical bicornuate uterus with patent cervix and vagina,Clinical subtype,Subtype of disorder,LB44.3,0015836,Q51.1,,C5680491,,,,,,
180134,Bicornuate uterus,Clinical group,Group of disorders,LB44.3,0015842,Q51.3,,C0266387,D000093663,10004550,,,,
180139,Uterine hypoplasia,Morphological anomaly,Disorder,LB44.1,0015843,Q51.8,,C0266399,,10063146,,,,
180126,Complete septate uterus,Morphological anomaly,Disorder,LB44.4,0015840,Q51.2,,C2957116,,,,,,
180129,Partial septate uterus,Morphological anomaly,Disorder,LB44.4,0015841,Q51.2,,C0266401,,,,,,
180148,Syndromic uterovaginal malformation,Category,Group of disorders,,,,,C5680492,,,,,,
1020,Early-onset autosomal dominant Alzheimer disease,Disease,Disorder,6D80.0,0015140,G30.0,611154,C0276496,,,12798,Early-onset autosomal dominant Alzheimer disease,Adult,Autosomal dominant
180151,Rare vaginal malformation,Category,Group of disorders,,,,,C5680493,,,,,,
63,Alport syndrome,Disease,Disorder,LD2H.Y,0018965,Q87.8,301050,C1567741,D009394,10001843,5785,Alport syndrome,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Autosomal recessive, X-linked dominant"
54,X-linked recessive ocular albinism,Disease,Disorder,9E1Y,0021019,E70.3,300500,C0342684,C537863,,8471,X-linked recessive ocular albinism,"Infancy, Neonatal",X-linked recessive
180142,Absence of uterine body,Morphological anomaly,Disorder,LB44.0,0015844,Q51.0,,C5230999,,,,,,
180145,Uterine cervical aplasia and agenesis,Morphological anomaly,Disorder,LB43.1,0015845,Q51.5,,C5190813,,,,,,
180160,Transverse vaginal septum,Clinical subtype,Subtype of disorder,LB42.1,0015850,Q52.1,,C1856006,,,,,,
154,Familial isolated dilated cardiomyopathy,Disease,Disorder,BC43.00,0015470,I42.0,613642,C5679590,,,,Familial isolated dilated cardiomyopathy,All ages,"Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive"
180163,Rare breast malformation,Category,Group of disorders,,,,,C5680494,,,,,,
84,Fanconi anemia,Malformation syndrome,Disorder,3A70.0,0019391,D61.0,621258,C0015625,D005199,10055206,6425,Fanconi anemia,Childhood,"Autosomal recessive, X-linked recessive"
180154,Septate vagina,Morphological anomaly,Disorder,LB42.1,0015848,Q52.1,,C0266411,,,,,,
70,Proximal spinal muscular atrophy,Disease,Disorder,8B61.Y,0019079,G12.1,271150,C4024957,,,4531,Proximal spinal muscular atrophy,All ages,Autosomal recessive
69,Amyloidosis,Category,Group of disorders,5D00,0019065,E85.0,,C0002726,D000686,10002022,,Amyloidosis,All ages,
180157,Longitudinal vaginal septum,Clinical subtype,Subtype of disorder,LB42.1,0015849,Q52.1,,C1841680,,,,,,
180173,Deficient breast volume or number,Category,Group of disorders,,,,,C5680495,,,,,,
180176,Familial juvenile hypertrophy of the breast,Morphological anomaly,Disorder,GB22,0007237,N62,113670,C4749285,,,,Familial juvenile hypertrophy of the breast,,Not applicable
191,Cockayne syndrome,Disease,Disorder,LD2B,0016006,Q87.1,616570,C0009207,D003057,10009835,6122,Cockayne syndrome,All ages,Autosomal recessive
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Category,Group of disorders,8C20,,,,C0007959,D002607,,6034,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,All ages,"Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive"
155,NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy,Disease,Disorder,,,,,,,,,,,
180170,Excess breast volume or number,Category,Group of disorders,,,,,C5680496,,,,,,
178551,Aggressive primary cutaneous T-cell lymphoma,Clinical group,Group of disorders,,,,,C5680497,,,,,,
178548,Indolent primary cutaneous T-cell lymphoma,Clinical group,Group of disorders,,0015816,,,C5680498,,,,,,
834,Free sialic acid storage disease,Disease,Disorder,5C56.4,0019366,E77.8,604369,C2931872,C538523,,10870,Free sialic acid storage disease,"Antenatal, Infancy, Neonatal",Autosomal recessive
178557,Indolent primary cutaneous B-cell lymphoma,Clinical group,Group of disorders,,0015819,,,C5680499,,,,,,
178554,Aggressive primary cutaneous B-cell lymphoma,Clinical group,Group of disorders,,,,,C5680500,,,,,,
3135,NON RARE IN EUROPE: Scheuermann's disease,Malformation syndrome,Disorder,,,,,,,,,,,
799,Schizencephaly,Disease,Disorder,LA05.61,0010011,Q04.6,269160,C0266484,D065707,10073487,166,Schizencephaly,All ages,"Autosomal dominant, Autosomal recessive"
178563,Primary cutaneous B-cell lymphoma,Category,Group of disorders,,0015820,,,C1274310,,10085518,,,,
3151,Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,Disease,Disorder,8A4Y,0017837,G37.8,,C4518551,,,,Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,Childhood,Unknown
178566,Mycosis fungoides and variants,Clinical group,Group of disorders,2B01,0015821,C84.0,,C1513782,,,,Mycosis fungoides and variants,Adult,Not applicable
813,Silver-Russell syndrome,Disease,Disorder,LD2F.1Y,0008394,Q87.1,312780,C0175693,D056730,10062282,4870,Silver-Russell syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
3169,Sirenomelia,Malformation syndrome,Disorder,LD2F.12,0017850,Q87.2,600145,C0037205,,10072457,7652,Sirenomelia,"Antenatal, Neonatal",Not applicable
816,Sjögren-Larsson syndrome,Disease,Disorder,5C52.03,0010031,Q87.1,270200,C0037231,D016111,10048676,7654,Sjögren-Larsson syndrome,"Infancy, Neonatal",Autosomal recessive
821,Sotos syndrome,Disease,Disorder,LD2C,0019349,Q87.3,117550,C0175695,D058495,10064387,10091,Sotos syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
3173,Infantile spasms-broad thumbs syndrome,Disease,Disorder,,0017852,G40.4,,C4749287,,,3002,Infantile spasms-broad thumbs syndrome,Neonatal,
3204,Stormorken-Sjaastad-Langslet syndrome,Disease,Disorder,3B62.Y,0008497,D69.8,185070,C1861451,C566108,,5188,Stormorken-Sjaastad-Langslet syndrome,All ages,Autosomal dominant
3205,Sturge-Weber syndrome,Malformation syndrome,Disorder,LD23,0008501,Q85.8,185300,C0038505,D013341,10042265,7706,Sturge-Weber syndrome,"Antenatal, Neonatal",Not applicable
3320,Thrombocytopenia-absent radius syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010121,Q87.2,274000,C0175703,C536940,10071719,5116,Thrombocytopenia-absent radius syndrome,"Antenatal, Neonatal",Autosomal recessive
178996,Acquired neutropenia,Category,Group of disorders,4B00.01,,,,C4543729,,,,,,
3346,Tracheal agenesis,Morphological anomaly,Disorder,LA73.Y,0018058,Q32.1,,C1261567,C536975,,5233,Tracheal agenesis,"Antenatal, Neonatal",Unknown
179006,Primary immunodeficiency due to a defect in adaptive immunity,Category,Group of disorders,4A01,,,,C5680501,,,,,,
858,Congenital toxoplasmosis,Disease,Disorder,KA64.0,0005715,P37.1,,C0040560,D014125,10010652,,Congenital toxoplasmosis,"Antenatal, Infancy, Neonatal",Not applicable
1245,BIDS syndrome,Malformation syndrome,Disorder,,,,234050,C3495483,,,,,,
3390,Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome,Disease,Disorder,,,,560000,,,,,,,
887,VACTERL/VATER association,Malformation syndrome,Disorder,LD2F.11,0008642,Q87.2,192350,C4225671,,,5443,VACTERL/VATER association,"Antenatal, Neonatal",Not applicable
291,Congenital varicella syndrome,Disease,Disorder,KA62.2,0017372,P35.8,,C4275251,,,45,Congenital varicella syndrome,"Antenatal, Neonatal",Not applicable
909,Cerebrotendinous xanthomatosis,Disease,Disorder,5C52.11,0008948,E75.5,213700,C0238052,D019294,,5622,Cerebrotendinous xanthomatosis,"Infancy, Neonatal",Autosomal recessive
3447,Weaver syndrome,Malformation syndrome,Disorder,LD2C,0010193,Q87.3,277590,C0265210,C536687,10083271,7878,Weaver syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
1422,Chondrodysplasia-difference of sex development syndrome,Malformation syndrome,Disorder,LD24.0Y,0010814,Q87.1,600092,C1838654,C536123,,,Chondrodysplasia-difference of sex development syndrome,"Antenatal, Neonatal",Autosomal recessive
178478,Infant botulism,Clinical subtype,Subtype of disorder,1A11.1,0015804,A05.1,,C0238027,,,,Infant botulism,"Infancy, Neonatal",
178481,Intestinal botulism,Clinical subtype,Subtype of disorder,1A11.1,0015805,A05.1,,C1443901,,,,Intestinal botulism,All ages,
178469,Autosomal dominant non-syndromic intellectual disability,Etiological subtype,Subtype of disorder,LD90.Y,0015802,F70,620114,C5680502,,,12107,Autosomal dominant non-syndromic intellectual disability,"Childhood, Infancy",Autosomal dominant
178475,Wound botulism,Etiological subtype,Subtype of disorder,1A11.1,0015803,A05.1,,C1306794,,,,Wound botulism,All ages,
178461,X-linked myopathy with postural muscle atrophy,Disease,Disorder,8C70.Y,0010401,G71.0,300696,C2678055,,,,X-linked myopathy with postural muscle atrophy,Adult,X-linked recessive
178464,Hereditary myopathy with early respiratory failure,Disease,Disorder,8C70.Y,0011362,G71.0,603689,C1863599,C566343,,12591,Hereditary myopathy with early respiratory failure,Adult,Autosomal dominant
178396,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,Disease,Disorder,5C5A,0015801,D68.8,613490,C5190706,,,,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,Adolescent,"Autosomal dominant, Not applicable"
178400,Distal myopathy with anterior tibial onset,Disease,Disorder,8C75,0011721,G71.0,606768,C1847532,C564664,,,Distal myopathy with anterior tibial onset,"Adolescent, Adult",Autosomal recessive
178382,Congenital vertical talus,Morphological anomaly,Disorder,LB98.4,0008652,Q66.8,192950,C0240912,,10066242,5488,Congenital vertical talus,"Infancy, Neonatal",Autosomal dominant
178389,Osteopetrosis-hypogammaglobulinemia syndrome,Disease,Disorder,4A01.0Y,0012859,Q78.2,612301,C4751205,,,10106,Osteopetrosis-hypogammaglobulinemia syndrome,"Infancy, Neonatal",Autosomal recessive
62,Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,Disease,Disorder,8C70.41,0011968,G71.0,608099,C2936332,,,438,Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,"Adolescent, Childhood",Autosomal recessive
178364,Syndromic microphthalmia type 5,Malformation syndrome,Disorder,LD21.0,0012413,Q11.2,610125,C1864690,C566441,,3692,Syndromic microphthalmia type 5,"Antenatal, Neonatal",Autosomal dominant
715,Glycogen storage disease due to muscle phosphorylase kinase deficiency,Disease,Disorder,5C51.3,0010362,E74.0,300559,C1845151,C564485,,3858,Glycogen storage disease due to muscle phosphorylase kinase deficiency,"Adolescent, Adult","Autosomal recessive, X-linked recessive"
178377,Osteosclerosis-developmental delay-craniosynostosis syndrome,Malformation syndrome,Disorder,LD2F.1Y,0015800,Q75.8,,C4302818,,,,Osteosclerosis-developmental delay-craniosynostosis syndrome,"Infancy, Neonatal",Autosomal dominant
348,"Fructose-1,6-bisphosphatase deficiency",Disease,Disorder,5C51.5Y,0009251,E74.1,229700,C0016756,D015319,10081516,2400,"Fructose-1,6-bisphosphatase deficiency",All ages,Autosomal recessive
178345,Aromatase excess syndrome,Disease,Disorder,5A92,0007690,E30.1,139300,C1970109,C000591739,,12494,Aromatase excess syndrome,"Adolescent, Childhood",Autosomal dominant
178355,Smith-McCort dysplasia,Disease,Disorder,LD24.3,0015799,Q77.7,615222,C1846431,C564589,,10620,Smith-McCort dysplasia,Childhood,Autosomal recessive
178338,UV-sensitive syndrome,Disease,Disorder,,0015797,L56.8,614640,C1833561,C563466,,10947,UV-sensitive syndrome,Infancy,Autosomal recessive
3137,Alpha-N-acetylgalactosaminidase deficiency,Disease,Disorder,5C56.21,0017779,E77.1,609242,C5848084,,,,Alpha-N-acetylgalactosaminidase deficiency,"Adult, Childhood, Infancy",Autosomal recessive
3435,NON RARE IN EUROPE: Vitiligo,Disease,Disorder,,,L80,,,,,,,,
178342,Inflammatory myofibroblastic tumor,Disease,Disorder,2E92.1,0015798,D48.7,,C0334121,,10067917,7146,,,
178544,"Primary cutaneous diffuse large B-cell lymphoma, leg type",Disease,Disorder,2A81.A,0006383,C83.3,,C1709656,,,,,,
178540,Primary cutaneous follicle center lymphoma,Disease,Disorder,2A80.3,0015814,C82.6,,C1333171,,,13701,,,
117,Behçet disease,Disease,Disorder,4A62,0007191,M35.2,109650,C0004943,D001528,10004213,848,Behçet disease,"Adolescent, Adult, Childhood",Multigenic/multifactorial
732,Polymyositis,Disease,Disorder,4A41.1,0019127,M33.2,,C0085655,D017285,10036102,7425,Polymyositis,"Adult, Elderly",Not applicable
178536,Primary cutaneous marginal zone B-cell lymphoma,Disease,Disorder,2A85.2,0015813,C83.0,,C1275321,,,,,,
178533,Primary cutaneous gamma/delta-positive T-cell lymphoma,Disease,Disorder,2B0Y,0015812,C84.5,,C1707547,,,,,,
221,Dermatomyositis,Disease,Disorder,4A41.00,0016367,M33.0,,C0011633,D003882,10012503,6263,Dermatomyositis,"Adult, Elderly",Not applicable
598,Multiminicore myopathy,Disease,Disorder,8C72.0Y,0018948,G71.2,602771,C0270962,,,,Multiminicore myopathy,"Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
178528,Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma,Disease,Disorder,2B0Y,0015811,C84.5,,C4518232,,,,,,
204,Sporadic Creutzfeldt-Jakob disease,Disease,Disorder,8E00,0016079,A81.0,123400,C1852467,C565143,10011384,6956,Sporadic Creutzfeldt-Jakob disease,"Adult, Elderly",Not applicable
178522,Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma,Disease,Disorder,,0015810,C84.4,,C5680503,,,,,,
178517,Localized pagetoid reticulosis,Disease,Disorder,2B01,0015809,C84.0,,C1276140,D056267,,,Localized pagetoid reticulosis,Adult,Not applicable
178512,Folliculotropic mycosis fungoides,Disease,Disorder,2B01,0015808,C84.0,,C1627767,,,,Folliculotropic mycosis fungoides,Adult,Not applicable
178509,Perry syndrome,Disease,Disorder,8A00.1Y,0008201,G23.8,168605,C1868594,C566822,10079207,10453,Perry syndrome,Adult,Autosomal dominant
178506,Interstitial lung disease-brain calcification syndrome,Disease,Disorder,LD20.4,,G93.8,613658,C3150910,,,,Interstitial lung disease-brain calcification syndrome,"Adolescent, Adult, Childhood, Elderly",Autosomal recessive
178503,Dursun syndrome,Malformation syndrome,Disorder,,,,,C2751630,,,,,,
611,Inclusion body myositis,Disease,Disorder,4A41.20,0007827,M60.8,147421,C0238190,D018979,10066407,3896,Inclusion body myositis,"Adult, Elderly",Not applicable
178493,NON RARE IN EUROPE: Myopic macular degeneration,Disease,Disorder,,0015807,,,,,,,,,
178487,Adult intestinal botulism,Clinical subtype,Subtype of disorder,1A11.1,0015806,A05.1,,C4289991,,,,Adult intestinal botulism,Adult,
177926,Bleeding disorder in hemophilia A carriers,Clinical subtype,Subtype of disorder,3B10.0,,D66,306700,C5680504,,,,Bleeding disorder in hemophilia A carriers,All ages,X-linked recessive
581,Mucopolysaccharidosis type 3,Disease,Disorder,5C56.3Y,0018937,E76.2,252940,C0026706,D009084,10056890,3807,Mucopolysaccharidosis type 3,Childhood,Autosomal recessive
177929,Bleeding disorder in hemophilia B carriers,Clinical subtype,Subtype of disorder,3B11.0,,D67,306900,C5680505,,,,Bleeding disorder in hemophilia B carriers,,X-linked recessive
178025,Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations,Category,Group of disorders,,,,,C5680506,,,,,,
685,Hereditary spastic paraplegia,Clinical group,Group of disorders,8B44.0,0019064,G11.4,,C0037773,D015419,10019903,6637,Hereditary spastic paraplegia,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
666,Osteogenesis imperfecta,Disease,Disorder,LD24.K0,0019019,Q78.0,259440,C0029434,D010013,10031243,1017,Osteogenesis imperfecta,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
178029,Arginine vasopressin deficiency,Disease,Disorder,5A61.5,0015790,E23.2,304900,C0687720,D020790,10068587,6015,Arginine vasopressin deficiency,Childhood,"Autosomal dominant, Autosomal recessive, X-linked dominant"
177901,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Etiological subtype,Subtype of disorder,LD90.3,0015783,Q87.1,615547,C5680507,,,,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,"Antenatal, Neonatal",Autosomal dominant
423,Malignant hyperthermia of anesthesia,Disease,Disorder,8C78,0018493,T88.3,601888,C0024591,D008305,10020844,6964,Malignant hyperthermia of anesthesia,All ages,Autosomal dominant
177904,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,Etiological subtype,Subtype of disorder,LD90.3,0015784,Q87.1,615547,C5680508,,,,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,"Antenatal, Neonatal",Autosomal dominant
418,Congenital adrenal hyperplasia,Clinical group,Group of disorders,5A71.01,0018479,E25.0,613571,C0001627,D000312,10010323,1467,Congenital adrenal hyperplasia,,Autosomal recessive
177907,Prader-Willi syndrome due to translocation,Etiological subtype,Subtype of disorder,LD90.3,0015785,Q87.1,176270,C5680509,,,,Prader-Willi syndrome due to translocation,"Antenatal, Neonatal",Not applicable
177910,Prader-Willi syndrome due to imprinting mutation,Etiological subtype,Subtype of disorder,LD90.3,0015786,Q87.1,176270,C5680510,,,,Prader-Willi syndrome due to imprinting mutation,"Antenatal, Neonatal",Not applicable
216,Neuronal ceroid lipofuscinosis,Clinical group,Group of disorders,5C56.1,0016295,E75.4,,C0027877,D009472,10074607,10739,Neuronal ceroid lipofuscinosis,All ages,"Autosomal dominant, Autosomal recessive"
364,Glycogen storage disease due to glucose-6-phosphatase deficiency,Disease,Disorder,5C51.3,0002413,E74.0,232240,C0017920,D005953,10018464,,Glycogen storage disease due to glucose-6-phosphatase deficiency,"Infancy, Neonatal",Autosomal recessive
177101,Rare adult hypothyroidism,Category,Group of disorders,,,,,C5680511,,,,,,
355,Gaucher disease,Disease,Disorder,5C56.0Y,0018150,E75.2,610539,C0017205,D005776,10018048,8233,Gaucher disease,All ages,Autosomal recessive
388,Hirschsprung disease,Disease,Disorder,LB16.1,0018309,Q43.1,613870,C0019569,D006627,10010539,6660,Hirschsprung disease,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable"
177107,Syndromic hypothyroidism,Category,Group of disorders,,,,,C5680512,,,,,,
448,Hemophilia,Clinical group,Group of disorders,,0018660,,,C0684275,,10061992,10418,Hemophilia,"Antenatal, Infancy, Neonatal",X-linked recessive
304,Epidermolysis bullosa simplex,Clinical group,Group of disorders,EC30,0017610,Q81.0,,C0079298,D016110,,10752,Epidermolysis bullosa simplex,"Adolescent, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
174590,Congenital hypogonadotropic hypogonadism,Category,Group of disorders,,0015770,,,C3899503,,10083932,,Congenital hypogonadotropic hypogonadism,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
354,GM1 gangliosidosis,Disease,Disorder,5C56.00,0018149,E75.1,230650,C0085131,D016537,,10891,GM1 gangliosidosis,Childhood,Autosomal recessive
178320,Acute lung injury,Particular clinical situation in a disease or syndrome,Disorder,NB32.3,0015796,S27.3,,C0242488,D055371,10069351,,Acute lung injury,All ages,Not applicable
178315,Undifferentiated embryonal sarcoma of the liver,Disease,Disorder,2B55.Y,0015795,C22.4,,C2205345,,,,,,
178333,Åland Islands eye disease,Disease,Disorder,9B7Y,0010371,H35.5,300600,C0268505,C562664,,10574,Åland Islands eye disease,"Infancy, Neonatal",X-linked recessive
362,NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency,Disease,Disorder,,,D55.0,,,,,,,,
760,Purine nucleoside phosphorylase deficiency,Disease,Disorder,4A01.1Y,0013171,D81.5,613179,C0268125,C562587,10086665,4606,Purine nucleoside phosphorylase deficiency,"Adolescent, Childhood, Infancy",Autosomal recessive
178330,OBSOLETE: Heinz body anemia,Disease,Disorder,,,,,,,,,,,
270,Oculopharyngeal muscular dystrophy,Disease,Disorder,9C82.1,0008116,G71.0,164300,C0270952,D039141,10052181,7245,Oculopharyngeal muscular dystrophy,"Adult, Elderly","Autosomal dominant, Autosomal recessive"
178303,8q22.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.80,0011977,Q93.5,608156,C1842464,C536110,,4722,8q22.1 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
244,Primary ciliary dyskinesia,Disease,Disorder,LA75.Y,0016575,Q34.8,620642,C4551720,,10069713,4484,Primary ciliary dyskinesia,Neonatal,"Autosomal dominant, Autosomal recessive, X-linked recessive"
178148,Antenatal multiminicore disease with arthrogryposis multiplex congenita,Clinical subtype,Subtype of disorder,8C72.0Y,0015794,G71.2,,C1843691,C537474,,,Antenatal multiminicore disease with arthrogryposis multiplex congenita,Antenatal,
178311,Isolated sternocostoclavicular hyperostosis,Disease,Disorder,,0044355,M85.8,,C4707796,,,,,,
178307,Reticulate acropigmentation of Kitamura,Disease,Disorder,,0014234,L81.8,615537,C0406811,,,,Reticulate acropigmentation of Kitamura,"Adolescent, Adult, Childhood",Autosomal dominant
589,Myasthenia gravis,Disease,Disorder,8C60,0009688,G70.0,254200,C0026896,D009157,10028417,7122,Myasthenia gravis,All ages,"Multigenic/multifactorial, Not applicable"
805,Tuberous sclerosis complex,Disease,Disorder,LD2D.2,0001734,Q85.1,613254,C0041341,D014402,10080584,7830,Tuberous sclerosis complex,All ages,Autosomal dominant
886,Usher syndrome,Disease,Disorder,LD2H.4,0019501,H35.5,611383,C0271097,D052245,10063396,7843,Usher syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
178145,Moderate multiminicore disease with hand involvement,Clinical subtype,Subtype of disorder,8C72.0Y,0015793,G71.2,117000,C1861753,C566147,,,Moderate multiminicore disease with hand involvement,"Childhood, Infancy, Neonatal",Autosomal dominant
3440,Waardenburg syndrome,Disease,Disorder,EC23.2Y,0018094,E70.3,611584,C3266898,D014849,10069203,5525,Waardenburg syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
178040,Rare peripheral precocious puberty,Category,Group of disorders,5A92,,,,C5680513,,,,,,
702,Pelizaeus-Merzbacher disease,Disease,Disorder,8A44.0,0010714,E75.2,213900,C0205711,D020371,10067610,4265,Pelizaeus-Merzbacher disease,All ages,"X-linked dominant, X-linked recessive"
738,Porphyria,Clinical group,Group of disorders,5C58.1,,E80.2,,C5848305,D011164,10036181,10353,Porphyria,All ages,"Autosomal dominant, Autosomal recessive"
768,Congenital long QT syndrome,Clinical group,Group of disorders,BC65.0,0019171,,611819,C1141890,,10057926,,Congenital long QT syndrome,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive"
178045,Transient congenital hypothyroidism,Clinical group,Group of disorders,5A00.03,0015792,,,,,,,,,
791,Retinitis pigmentosa,Disease,Disorder,9B70,0019200,H35.5,620102,C0035334,D012174,10038914,5694,Retinitis pigmentosa,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive"
172985,OBSOLETE: Congenital myopathy with vacuoles,Category,Group of disorders,,,,,,,,,,,
375,Anti-glomerular basement membrane disease,Disease,Disorder,MF85,0009303,N08.5*,233450,C0403529,D019867,10081981,2551,Anti-glomerular basement membrane disease,"Adolescent, Adult, Elderly",Not applicable
2054,OBSOLETE: Osteochondritis of tarsal/metatarsal bone,Disease,Disorder,,,,,,,,,,,
172979,OBSOLETE: Congenital myopathy with central nuclei,Category,Group of disorders,,,,,,,,,,,
183,Eosinophilic granulomatosis with polyangiitis,Disease,Disorder,4A44.A2,0015943,M30.1,,C0008728,D015267,10048594,6111,Eosinophilic granulomatosis with polyangiitis,"Adolescent, Adult, Elderly",Not applicable
172982,OBSOLETE: Congenital myopathy with fiber size variation,Category,Group of disorders,,,,,,,,,,,
1164,Allergic bronchopulmonary aspergillosis,Disease,Disorder,CA82.4,0015243,J99.8*,103920,C0004031,D001229,10006474,602,Allergic bronchopulmonary aspergillosis,Childhood,Not applicable
2406,Locked-in syndrome,Clinical syndrome,Disorder,8E45,0016567,G83.8,,C0023944,D000080422,10024792,6919,Locked-in syndrome,All ages,Not applicable
509,Leptospirosis,Disease,Disorder,1B91,0005825,A27.0,,C0023364,D007922,10024238,7881,Leptospirosis,All ages,Not applicable
761,Immunoglobulin A vasculitis,Disease,Disorder,4A44.92,0019167,D69.0,,C0034152,D011695,10082960,8204,Immunoglobulin A vasculitis,Childhood,Not applicable
2131,Alternating hemiplegia of childhood,Disease,Disorder,MB53.0,0016241,G98,614820,C0338488,C536589,10077948,11,Alternating hemiplegia of childhood,"Infancy, Neonatal","Autosomal dominant, Not applicable"
171901,Primary cutaneous T-cell lymphoma,Category,Group of disorders,,0015758,,,C0079773,D016410,10011677,6226,,,
713,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,Disease,Disorder,5C51.3,0010392,E74.0,300653,C5568976,,,7389,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,"Adolescent, Adult, Childhood",X-linked recessive
171915,B-cell non-Hodgkin lymphoma,Category,Group of disorders,,0015759,,,C0079731,,,,,,
57,Glycogen storage disease due to aldolase A deficiency,Disease,Disorder,5C51.3,0012747,E74.0,611881,C0272066,C562718,,600,Glycogen storage disease due to aldolase A deficiency,Neonatal,Autosomal recessive
171895,Myeloid hemopathy,Category,Group of disorders,,0015756,,,C5680514,,,,,,
171898,Lymphoid hemopathy,Category,Group of disorders,,0015757,,,C5680515,,,,,,
172973,OBSOLETE: Congenital myopathy with protein accumulation,Category,Group of disorders,,,,,,,,,,,
249,Fibrous dysplasia of bone,Malformation syndrome,Disorder,FB80.0,0000845,Q78.1,,C0259779,D005357,10016664,6444,Fibrous dysplasia of bone,"Adolescent, Adult, Childhood",Not applicable
172976,Congenital myopathy with cores,Clinical group,Group of disorders,,,,,C5680516,,,,,,
2334,Autosomal dominant keratitis,Disease,Disorder,9A7Y,0007848,H16.8,148190,C1835698,C537022,,3089,Autosomal dominant keratitis,Childhood,Autosomal dominant
171918,T-cell non-Hodgkin lymphoma,Category,Group of disorders,,0015760,,,C0079772,,10025321,,,,
755,Leydig cell hypoplasia,Disease,Disorder,LD2A.3,0019155,Q56.1,238320,C0860158,C562567,10024406,3244,Leydig cell hypoplasia,Neonatal,
171929,Trisomy 10p syndrome,Malformation syndrome,Disorder,LD41.91,0015761,Q92.2,,C4082793,,,5299,Trisomy 10p syndrome,"Infancy, Neonatal",
187,Citrullinemia,Category,Group of disorders,5C50.A3,0015991,,,C0175683,D020159,,,Citrullinemia,"Adult, Neonatal",Autosomal recessive
46,Adenylosuccinate lyase deficiency,Disease,Disorder,5C55.0Y,0007068,E79.8,103050,C0268126,C538235,10081681,550,Adenylosuccinate lyase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
442,Congenital hypothyroidism,Category,Group of disorders,5A00.0,0018612,,,C0010308,D003409,10010510,1487,Congenital hypothyroidism,"Antenatal, Neonatal",Autosomal recessive
43,X-linked adrenoleukodystrophy,Disease,Disorder,5C57.1,,E71.3,302700,C0162309,D000326,10051260,5758,X-linked adrenoleukodystrophy,"Adolescent, Adult, Childhood, Elderly",X-linked dominant
3166,Sialuria,Disease,Disorder,5C56.4,0010028,E77.8,269921,C0342853,,,4865,Sialuria,Infancy,Autosomal dominant
2882,Sitosterolemia,Disease,Disorder,5C52.1Y,0008863,E78.0,618666,C0342907,C537345,10063985,7653,Sitosterolemia,All ages,Autosomal recessive
810,Shigellosis,Disease,Disorder,1A02,0019345,A03.3,,C0013371,,10054178,4818,Shigellosis,All ages,Not applicable
3165,Eosinophilic fasciitis,Disease,Disorder,4A43.4,0009175,M35.4,226350,C0264005,C562487,10014954,6351,Eosinophilic fasciitis,Adult,Unknown
2420,Primary pulmonary lymphoma,Disease,Disorder,2C25.Y,0016570,C85.7,,C4273669,,10037418,,Primary pulmonary lymphoma,"Adult, Elderly",Not applicable
727,Microscopic polyangiitis,Disease,Disorder,4A44.A0,0019124,M31.7,,C2347126,D055953,10063344,3652,Microscopic polyangiitis,"Adult, Childhood",Not applicable
900,Granulomatosis with polyangiitis,Disease,Disorder,4A44.A1,0012105,M31.3,608710,C3495801,D014890,10072579,7880,Granulomatosis with polyangiitis,"Adolescent, Adult, Childhood, Elderly",Not applicable
3185,NON RARE IN EUROPE: Polycystic ovary syndrome,Disease,Disorder,,,E28.2,,,,,,,,
863,Trichinellosis,Disease,Disorder,1F6E,0019444,B75,,C0040896,D014235,10044608,5250,Trichinellosis,All ages,Not applicable
171695,Parkinsonian-pyramidal syndrome,Disease,Disorder,8A00.1Y,0009830,G20,260300,C1850100,C538104,,9175,Parkinsonian-pyramidal syndrome,"Adolescent, Adult",Autosomal recessive
134,Beta-ketothiolase deficiency,Disease,Disorder,5C50.DY,0008760,E71.1,203750,C1536500,C535434,10067728,872,Beta-ketothiolase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
171700,Diffuse panbronchiolitis,Disease,Disorder,CA26.1,0011490,J44.8,604809,C0878555,C536174,10062952,8526,Diffuse panbronchiolitis,Adult,Multigenic/multifactorial
984,Pulmonary agenesis,Morphological anomaly,Disorder,LA75.1,0020110,Q33.3,,C0265780,C562992,10037322,9119,,,
171703,Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,Malformation syndrome,Disorder,,0015745,Q04.3,,C4750772,,,,Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,"Antenatal, Neonatal",Autosomal recessive
171706,Short stature-delayed bone age due to thyroid hormone metabolism deficiency,Disease,Disorder,5A00.0Y,,E03.1,609698,C4706661,,,,Short stature-delayed bone age due to thyroid hormone metabolism deficiency,"Childhood, Infancy",Autosomal recessive
171709,Male infertility due to globozoospermia,Clinical subtype,Subtype of disorder,,0015746,N46,613958,C5679591,,,12502,Male infertility due to globozoospermia,Adult,Autosomal recessive
171714,Amish infantile epilepsy syndrome,Disease,Disorder,,,,,C1836824,,,,,,
171719,Cutis laxa-Marfanoid syndrome,Malformation syndrome,Disorder,LD28.2,0013574,Q87.8,614100,C0432335,C563639,,,Cutis laxa-Marfanoid syndrome,"Infancy, Neonatal",
1163,Aspergillosis,Disease,Disorder,1F20.1,0005657,B44.9,614079,C0004030,D001228,10003488,5856,Aspergillosis,All ages,Not applicable
171723,White sponge nevus,Disease,Disorder,DA02.0,0015748,Q38.6,615785,C1721005,D053529,10072666,8501,White sponge nevus,,Autosomal dominant
3467,Hereditary xanthinuria,Disease,Disorder,5C55.00,0018106,E79.8,603592,C5779508,,,,Hereditary xanthinuria,All ages,Autosomal recessive
171673,Limbal stem cell deficiency,Disease,Disorder,9A7Y,0025667,H18.7,,C1561989,D000092423,10072138,,Limbal stem cell deficiency,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
171676,NON RARE IN EUROPE: Periventricular leukomalacia,Particular clinical situation in a disease or syndrome,Disorder,,,P91.2,,,,,,,,
511,Maple syrup urine disease,Disease,Disorder,5C50.D0,0009563,E71.0,248600,C0024776,D008375,10026817,3228,Maple syrup urine disease,"Childhood, Infancy, Neonatal",Autosomal recessive
171680,Lissencephaly due to TUBA1A mutation,Malformation syndrome,Disorder,LD20.1,0012703,Q04.3,611603,C4305153,,,,Lissencephaly due to TUBA1A mutation,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
32,Glutathione synthetase deficiency,Disease,Disorder,3A10.0Y,0017909,D55.1,266130,C0398746,C536835,10079364,10047,Glutathione synthetase deficiency,Neonatal,Autosomal recessive
171684,Idiopathic bilateral vestibulopathy,Disease,Disorder,AB34.0,0015743,H81.8,,C4545229,,,,,,
171690,Metabolic myopathy due to lactate transporter defect,Disease,Disorder,,0009501,G72.8,245340,C1855577,C565449,,,Metabolic myopathy due to lactate transporter defect,,Autosomal dominant
26,Methylmalonic acidemia with homocystinuria,Disease,Disorder,5C50.E0,0016826,E71.1,614857,C5848324,C537359,,3579,Methylmalonic acidemia with homocystinuria,All ages,"Autosomal recessive, X-linked recessive"
171863,Autosomal dominant spastic paraplegia type 42,Disease,Disorder,8B44.00,0012928,G11.4,612539,C2675528,C567262,,,Autosomal dominant spastic paraplegia type 42,"Adolescent, Adult, Childhood",Autosomal dominant
171860,OBSOLETE: Intellectual disability-cataracts-kyphosis syndrome,Disease,Disorder,,,,,,,,,,,
171871,Renal pseudohypoaldosteronism type 1,Clinical subtype,Subtype of disorder,GB90.41,0008329,N25.8,177735,C1449842,,,9145,Renal pseudohypoaldosteronism type 1,"Infancy, Neonatal",Autosomal dominant
322,Exstrophy-epispadias complex,Malformation syndrome,Disorder,,0017919,Q64.1,600057,C1838703,C564009,,2207,Exstrophy-epispadias complex,"Antenatal, Neonatal",Multigenic/multifactorial
171866,"Spondyloepimetaphyseal dysplasia, aggrecan type",Disease,Disorder,LD24.3,0013014,Q77.7,612813,C2748544,C567558,,10513,"Spondyloepimetaphyseal dysplasia, aggrecan type","Infancy, Neonatal",Autosomal recessive
2368,Gastroschisis,Morphological anomaly,Disorder,LB02,0009264,Q79.3,230750,C0265706,D020139,10018046,8661,Gastroschisis,Antenatal,Not applicable
171881,Cap myopathy,Disease,Disorder,8C72.0Y,0015753,G71.2,609285,C3710589,C579969,,11915,Cap myopathy,"Childhood, Infancy, Neonatal",Autosomal dominant
2512,Autosomal recessive primary microcephaly,Etiological subtype,Subtype of disorder,LA05.0,0016660,Q02,617432,C3711387,C579935,,12117,Autosomal recessive primary microcephaly,"Antenatal, Neonatal",Autosomal recessive
2913,Non-syndromic polydactyly,Category,Group of disorders,LB78,0011348,,603596,C0152427,D017689,10036063,4410,,,
171876,Generalized pseudohypoaldosteronism type 1,Clinical subtype,Subtype of disorder,GB90.41,0009917,N25.8,264350,C1449843,,,4552,Generalized pseudohypoaldosteronism type 1,"Infancy, Neonatal",Autosomal recessive
795,Rare form of salmonellosis,Category,Group of disorders,,,,,C5680518,,10039447,,Rare form of salmonellosis,All ages,Not applicable
171889,Myopathy with hexagonally cross-linked tubular arrays,Disease,Disorder,8C72.0Y,0015755,G71.2,,C4707259,,,,,,
797,Sarcoidosis,Disease,Disorder,4B20,0019338,D86.8,612388,C0036202,D012507,10039486,7607,Sarcoidosis,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
171886,Cylindrical spirals myopathy,Disease,Disorder,8C72.0Y,0008058,G71.2,,C4706943,,,11906,,,
171836,Amelogenesis imperfecta-gingival hyperplasia syndrome,Disease,Disorder,,,,,,,,,,,
92,Juvenile idiopathic arthritis,Clinical group,Group of disorders,FA24,0011429,,,C3495559,D001171,10059176,,Juvenile idiopathic arthritis,Childhood,
171829,6q16 microdeletion syndrome,Disease,Disorder,LD29,0015749,Q93.5,,C5438727,,,,6q16 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Unknown
1201,Small bowel atresia,Morphological anomaly,Disorder,LB15.1,0009476,Q41.2,243600,C0266172,C538260,10010626,140,Small bowel atresia,Antenatal,"Autosomal recessive, Not applicable, Unknown"
171844,Blindness-scoliosis-arachnodactyly syndrome,Malformation syndrome,Disorder,LD28.Y,0012907,Q87.5,612445,C4303548,,,,Blindness-scoliosis-arachnodactyly syndrome,"Adolescent, Childhood",Autosomal dominant
171839,Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,Malformation syndrome,Disorder,LD2F.1Y,0015751,Q87.8,,C3267187,,,,Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,Neonatal,
1202,Larynx atresia,Malformation syndrome,Disorder,LA71.Y,0007879,Q31.8,150300,C0265756,,,3194,Larynx atresia,All ages,Autosomal dominant
1199,Esophageal atresia,Morphological anomaly,Disorder,LB12.1,,Q39.0,189960,C0014850,D004933,10030146,6381,Esophageal atresia,Neonatal,Not applicable
171851,MEDNIK syndrome,Disease,Disorder,LD2H.Y,0012251,E83.0,609313,C1836330,,,,MEDNIK syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
171848,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,Disease,Disorder,LD2H.Y,0012984,G60.1,612674,C4509920,,,,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,Childhood,Autosomal recessive
1304,Brucellosis,Disease,Disorder,1B95,0005683,A23.2,,C0006309,D002006,10006500,5966,Brucellosis,All ages,Not applicable
173,Cholera,Disease,Disorder,1A00,0015766,A00.0,,C0008354,D002771,10008631,6043,Cholera,All ages,Not applicable
1428,OBSOLETE: Familial chondromalacia patellae,Disease,Disorder,,,,,,,,,,,
200037,Paroxysmal dystonia,Clinical group,Group of disorders,8A02.2,0016058,,,C0393588,,,,,,
3303,Tetralogy of Fallot,Malformation syndrome,Disorder,LA88.2,0008542,Q21.3,187500,C0039685,D013771,10016193,2245,Tetralogy of Fallot,"Antenatal, Neonatal","Autosomal dominant, Multigenic/multifactorial"
200418,Immunodeficiency with factor I anomaly,Disease,Disorder,4A00.1Y,0012594,D84.1,610984,C5191010,,,,Immunodeficiency with factor I anomaly,"Adolescent, Adult, Childhood",Autosomal recessive
730,Autosomal dominant polycystic kidney disease,Disease,Disorder,GB81,0004691,Q61.2,620903,C0085413,D016891,10036046,10413,Autosomal dominant polycystic kidney disease,"Adolescent, Adult, Childhood",Autosomal dominant
200421,Immunodeficiency with factor H anomaly,Disease,Disorder,4A00.1Y,0016061,D84.1,609814,C0398777,C562875,,,Immunodeficiency with factor H anomaly,,"Autosomal dominant, Autosomal recessive"
486,Autosomal dominant severe congenital neutropenia,Disease,Disorder,4B00.00,0008742,D70,613107,C4749612,,,9558,Autosomal dominant severe congenital neutropenia,"Infancy, Neonatal",Autosomal dominant
1209,Tricuspid atresia,Morphological anomaly,Disorder,LA89.1,0011514,Q22.4,605067,C0243002,D018785,10049767,5274,Tricuspid atresia,"Antenatal, Neonatal",Not applicable
199647,Isolated encephalocele,Morphological anomaly,Disorder,LA01,0016057,Q01.9,,C5680519,D004677,10014617,6333,,,
98,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,Disease,Disorder,8A03.1Y,0010041,G11.1,270550,C1849140,C536787,,4910,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
1480,NON RARE IN EUROPE: Ventricular septal defect,Morphological anomaly,Disorder,,,Q21.0,,,,,,,,
1478,Interatrial communication,Morphological anomaly,Disorder,LA8E.Y,0006664,Q21.1,614475,C0018817,D006344,10003664,,Interatrial communication,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Not applicable"
330,Congenital factor XII deficiency,Disease,Disorder,3B15,0009315,D68.2,234000,C0015526,D005175,10051806,6558,Congenital factor XII deficiency,All ages,Autosomal recessive
1482,Gonococcal conjunctivitis,Disease,Disorder,1A72.4,0015455,H13.1*,,C5779547,D009878,,2546,Gonococcal conjunctivitis,All ages,
1959,Evans syndrome,Disease,Disorder,3A20.5,0016030,D69.3,,C0272126,C536380,10053873,6389,Evans syndrome,"Adult, Childhood",Not applicable
284,Alveolar echinococcosis,Disease,Disorder,1F73.Y,0017282,B67.5,,C0152069,C536591,10053042,207,Alveolar echinococcosis,"Adult, Elderly",Not applicable
1177,Early-onset cerebellar ataxia with retained tendon reflexes,Disease,Disorder,8A03.1Y,0008938,G11.1,212895,C0393520,C535633,,2600,Early-onset cerebellar ataxia with retained tendon reflexes,"Adolescent, Adult, Childhood",Autosomal recessive
828,Stickler syndrome,Disease,Disorder,LD2F.1Y,0019354,Q87.0,614284,C0265253,,10063402,10782,Stickler syndrome,"Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
1431,Paroxysmal dyskinesia,Clinical group,Group of disorders,,0015427,,,C0752210,D002819,,,Paroxysmal dyskinesia,Childhood,"Autosomal dominant, Not applicable"
199340,BAG3-related myofibrillar myopathy,Disease,Disorder,8C76,0013061,G71.8,612954,C4509880,,,,BAG3-related myofibrillar myopathy,"Adolescent, Childhood",Autosomal dominant
293,Congenital herpes simplex virus infection,Disease,Disorder,1F00.Y,0017381,P35.2,,C4275250,,,,Congenital herpes simplex virus infection,"Antenatal, Neonatal",Not applicable
199337,Pancreatic insufficiency-anemia-hyperostosis syndrome,Disease,Disorder,5C53.2Y,0012992,E88.8,612714,C2675184,,,,Pancreatic insufficiency-anemia-hyperostosis syndrome,"Infancy, Neonatal",Autosomal recessive
234,Dubin-Johnson syndrome,Disease,Disorder,5C58.02,0009380,E80.6,237500,C0022350,D007566,10013800,2793,Dubin-Johnson syndrome,"Adolescent, Adult",Autosomal recessive
199348,Thiamine-responsive encephalopathy,Disease,Disorder,,,E51.2,607483,C5848322,,,,Thiamine-responsive encephalopathy,Adolescent,Autosomal recessive
3287,Takayasu arteritis,Disease,Disorder,4A44.1,0017991,M31.4,207600,C0039263,D013625,10043097,7730,Takayasu arteritis,"Adolescent, Adult",Not applicable
199343,EAST syndrome,Disease,Disorder,LD2H.Y,0013005,G40.4,612780,C2748572,C557674,,10514,EAST syndrome,"Infancy, Neonatal",Autosomal recessive
2800,Extramammary Paget disease,Disease,Disorder,2E64.1,0008177,C44.5,167300,C0030186,D010145,10068223,4192,Extramammary Paget disease,"Adult, Elderly",
199326,"Isolated autosomal dominant hypomagnesemia, Glaudemans type",Disease,Disorder,5C64.41,0016048,E83.4,,C4305155,,,,"Isolated autosomal dominant hypomagnesemia, Glaudemans type","Infancy, Neonatal",Autosomal dominant
199323,Endophthalmitis,Disease,Disorder,9C21,0016047,H44.1,,C0014236,D009877,10014801,,,,
1928,Congenital lobar emphysema,Morphological anomaly,Disorder,LA75.5,0007536,Q33.8,130710,C0265797,C535735,10010456,2104,Congenital lobar emphysema,"Adult, Childhood, Infancy, Neonatal",Not applicable
199332,Endocrine-cerebro-osteodysplasia syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012980,Q87.8,612651,C4509819,,,,Endocrine-cerebro-osteodysplasia syndrome,"Infancy, Neonatal",Autosomal recessive
199329,"Congenital myopathy, Paradas type",Disease,Disorder,8C70.6,0016049,G71.2,,C4511057,,,,"Congenital myopathy, Paradas type","Infancy, Neonatal",Autosomal recessive
2665,Congenital mesoblastic nephroma,Disease,Disorder,2C90.Y,0017043,D41.0,,C1332965,D018201,10070665,1493,Congenital mesoblastic nephroma,"Infancy, Neonatal",
3463,Wolfram syndrome,Disease,Disorder,5A61.5,0018105,E34.8,604928,C0043207,D014929,10078338,7898,Wolfram syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
1549,OBSOLETE: Cryptosporidiosis,Disease,Disorder,,,,,,,,,,,
199633,Non-syndromic cerebral malformation,Category,Group of disorders,,,,,C0266449,,,,,,
199642,Isolated congenital microcephaly,Malformation syndrome,Disorder,,0016056,Q02,,C0025958,,10027534,3603,Isolated congenital microcephaly,"Antenatal, Neonatal",
199639,Syndrome with corpus callosum agenesis/dysgenesis as a major feature,Category,Group of disorders,,,,,C5680521,,,,,,
549,Legionnaires disease,Disease,Disorder,1C19.1,,A48.1,,C0023241,D007877,10035718,6876,Legionnaires disease,All ages,Not applicable
704,Pemphigus vulgaris,Disease,Disorder,EB40.0,0008219,L10.0,169610,C0030809,,10052802,4270,Pemphigus vulgaris,"Adult, Childhood, Elderly",Not applicable
199354,Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,Disease,Disorder,8B22.C1,0010829,I67.8,600142,C1838577,C563990,10081315,10424,Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,"Adolescent, Adult",Autosomal recessive
199351,Adult-onset dystonia-parkinsonism,Disease,Disorder,8A00.1Y,0013060,G24.1,612953,C2751842,C567844,,12568,Adult-onset dystonia-parkinsonism,"Adolescent, Adult",Autosomal recessive
356,Gerstmann-Straussler-Scheinker syndrome,Disease,Disorder,8E02.1,0007656,A81.8,606688,C0017495,D016098,10072075,7690,Gerstmann-Straussler-Scheinker syndrome,Adult,"Autosomal dominant, Not applicable"
466,Fatal familial insomnia,Disease,Disorder,8E02.2,0010808,A81.8,600072,C0206042,D034062,10072077,6429,Fatal familial insomnia,Adult,Autosomal dominant
199630,Isolated cerebellar vermis hypoplasia,Morphological anomaly,Disorder,,0016053,Q04.3,,C4707794,,,,,,
199627,Atypical autism,Disease,Disorder,6A02.Y,0016052,F84.1,,C0338986,,10003747,,,,
1249,OBSOLETE: Binswanger disease,Disease,Disorder,,,,,,,,,,,
1983,NON RARE IN EUROPE: Chronic fatigue syndrome,Disease,Disorder,,,,,,,,,,,
199293,Congenital microgastria,Morphological anomaly,Disorder,LB13.Y,0016041,Q40.2,,C0266150,,,,Congenital microgastria,"Antenatal, Infancy, Neonatal",
3452,Whipple disease,Disease,Disorder,DA96.0Y,0005116,K90.8+,,C0023788,D008061,10047931,7889,Whipple disease,No data available,Not applicable
199282,Harlequin syndrome,Disease,Disorder,EE01.0,0016040,G90.8,,C2029348,C535634,10076575,8610,Harlequin syndrome,All ages,Not applicable
199285,Hereditary hypercarotenemia and vitamin A deficiency,Disease,Disorder,5C63.Y,0007272,E50.8,277350,C4511672,,,,Hereditary hypercarotenemia and vitamin A deficiency,"Childhood, Infancy",Autosomal dominant
2331,Kawasaki disease,Disease,Disorder,4A44.5,0012727,M30.3,611775,C0026691,D009080,10023320,6816,Kawasaki disease,"Adolescent, Adult, Childhood, Infancy",Multigenic/multifactorial
199276,Familial multiple lipomatosis,Disease,Disorder,2E80.0Z,0007909,E88.2,151900,C1275273,D000071070,10081235,12925,Familial multiple lipomatosis,"Adolescent, Adult, Infancy",
2102,GTP cyclohydrolase I deficiency,Clinical subtype,Subtype of disorder,5C59.01,0100186,E70.1,233910,C0268467,C562656,,2844,GTP cyclohydrolase I deficiency,"Infancy, Neonatal",Autosomal recessive
199279,Familial angiolipomatosis,Disease,Disorder,,0008792,D17.9,206550,C1859784,C565951,,,,,
199260,Calcifying aponeurotic fibroma,Disease,Disorder,EE61,0016038,M72.8,,C0553647,C000625499,,,,,
3002,Immune thrombocytopenia,Disease,Disorder,3B64.10,0008558,D69.3,188030,C0398650,D016553,10083842,5194,Immune thrombocytopenia,All ages,Not applicable
199267,Infantile digital fibromatosis,Disease,Disorder,EE6Y,0016039,M72.8,,C1318562,,,8487,Infantile digital fibromatosis,"Childhood, Infancy, Neonatal",
199315,Familial clubfoot with or without associated lower limb anomalies,Malformation syndrome,Disorder,LB98.Y,0016046,Q66.8,613618,C5680522,,,,Familial clubfoot with or without associated lower limb anomalies,"Infancy, Neonatal",Autosomal dominant
2040,Congenital respiratory-biliary fistula,Morphological anomaly,Disorder,LA74.Y,0016080,Q32.4,,C5231000,,,1475,Congenital respiratory-biliary fistula,Childhood,Not applicable
199318,15q13.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.F,0012774,Q93.5,612001,C2677613,C567439,10090652,10296,15q13.3 microdeletion syndrome,Childhood,"Autosomal dominant, Not applicable"
199310,Tetragametic chimerism syndrome,Malformation syndrome,Disorder,LD56,0016045,Q99.0,,C0432480,,,,Tetragametic chimerism syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2357,Bronchogenic cyst,Morphological anomaly,Disorder,CB40.Y,0016523,J98.4,,C0006281,D001994,10064585,1025,Bronchogenic cyst,All ages,Unknown
274,Bernard-Soulier syndrome,Disease,Disorder,3B62.01,0009276,D69.1,231200,C0005129,D001606,10057473,2470,Bernard-Soulier syndrome,All ages,"Autosomal dominant, Autosomal recessive"
1195,Congenital atransferrinemia,Disease,Disorder,5D0Y,0008846,E88.0,209300,C0521802,C538259,10083911,9595,Congenital atransferrinemia,"Childhood, Infancy",Autosomal recessive
199302,Isolated cleft lip,Morphological anomaly,Disorder,LA40,0016043,Q36.9,612858,C1837217,,10009259,,Isolated cleft lip,"Infancy, Neonatal",Multigenic/multifactorial
199306,Cleft lip/palate,Morphological anomaly,Disorder,LA40,0016044,Q37.3,616788,C0158646,,10009260,,Cleft lip/palate,"Infancy, Neonatal",Multigenic/multifactorial
926,Acatalasemia,Disease,Disorder,5C57.1,0013571,E80.3,614097,C0268419,D020642,10086141,363,Acatalasemia,All ages,Autosomal recessive
3020,Ramsay Hunt syndrome,Disease,Disorder,8B88.Y,0005769,G53.0*,,C0017409,,,7525,Ramsay Hunt syndrome,All ages,Not applicable
199296,Congenital isolated ACTH deficiency,Disease,Disorder,5A74.Y,0008720,E23.6,201400,C4055196,,,5727,Congenital isolated ACTH deficiency,Neonatal,Autosomal recessive
1531,Craniosynostosis,Category,Group of disorders,LB70.0,0015469,Q75.0,,C0010278,D003398,10049889,6209,Craniosynostosis,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable, Unknown, X-linked recessive"
199299,Late-onset isolated ACTH deficiency,Disease,Disorder,5A61.0,0016042,E23.6,,C4751433,,,,Late-onset isolated ACTH deficiency,Adult,Not applicable
1675,Dihydropyrimidine dehydrogenase deficiency,Disease,Disorder,5C55.1,0010130,E79.8,274270,C1959620,D054067,10052622,19,Dihydropyrimidine dehydrogenase deficiency,All ages,Autosomal recessive
189427,Cushing syndrome due to bilateral macronodular adrenocortical disease,Disease,Disorder,5A70.Y,9049,E24.8,219080,C2062388,,,10824,Cushing syndrome due to bilateral macronodular adrenocortical disease,All ages,"Autosomal dominant, Not applicable"
976,Adenine phosphoribosyltransferase deficiency,Disease,Disorder,5C55.0Y,0013869,E79.8,614723,C0268120,C538228,10072609,546,Adenine phosphoribosyltransferase deficiency,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal recessive
189424,OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia,Category,Group of disorders,,,,,,,,,,,
3129,Sarcosinemia,Disease,Disorder,5C50.71,0010008,E72.5,268900,C0268563,C537236,10059299,158,Sarcosinemia,All ages,Autosomal recessive
415,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,Disease,Disorder,5C50.AY,0009393,E72.4,238970,C0268540,C538380,10084220,2830,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
13,6-pyruvoyl-tetrahydropterin synthase deficiency,Clinical subtype,Subtype of disorder,5C59.01,0009863,E70.1,261640,C0878676,C535325,,5682,6-pyruvoyl-tetrahydropterin synthase deficiency,"Infancy, Neonatal",Autosomal recessive
199257,Superficial fibromatosis,Clinical group,Group of disorders,,0016037,,,C0406571,,,,,,
2494,Ménétrier disease,Disease,Disorder,DA42.6,0007652,K29.6,137280,C0017155,,,2436,Ménétrier disease,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable, Unknown"
171,Primary sclerosing cholangitis,Disease,Disorder,DB96.2,0013433,K83.0,613806,C0566602,,10036732,1280,Primary sclerosing cholangitis,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
199251,Ledderhose disease,Disease,Disorder,FB51.Y,0004684,M72.2,,C0158360,D000071380,10035154,6873,Ledderhose disease,Adult,
2416,Congenital primary lymphedema without systemic or visceral involvement,Clinical group,Group of disorders,,,,,C5680523,,,,,,
199247,Corticosteroid-binding globulin deficiency,Disease,Disorder,5A76.Y,0012675,E27.8,611489,C1852529,C565152,,13101,Corticosteroid-binding globulin deficiency,Adult,Semi-dominant
199244,Nelson syndrome,Clinical syndrome,Disorder,5A70.3,0016035,E24.1,,C0027577,D009347,10028913,7170,Nelson syndrome,"Adult, Elderly",
199241,Pulmonary capillary hemangiomatosis,Disease,Disorder,BB01.0,9329,D18.0,234810,C0340548,C535861,10077389,,Pulmonary capillary hemangiomatosis,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
2134,Atypical hemolytic uremic syndrome,Disease,Disorder,3A10.Y,0016244,D59.3,612926,C2931788,D065766,10079840,8702,Atypical hemolytic uremic syndrome,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
189466,Familial isolated hypoparathyroidism due to impaired PTH secretion,Clinical subtype,Subtype of disorder,5A50.0Y,0016000,E20.8,146200,C5680524,,,,Familial isolated hypoparathyroidism due to impaired PTH secretion,,"Autosomal dominant, Autosomal recessive"
17,Fatal infantile lactic acidosis with methylmalonic aciduria,Disease,Disorder,5C53.20,0009504,E71.1,245400,C4275183,,,3163,Fatal infantile lactic acidosis with methylmalonic aciduria,"Infancy, Neonatal",Autosomal recessive
189439,OBSOLETE: Primary pigmented nodular adrenocortical disease,Disease,Disorder,,,,,,,,,,,
3006,Pyridoxine-dependent-developmental and epileptic encephalopathy,Disease,Disorder,8A61.0Y,0009945,G40.8,266100,C1849508,C536254,,9298,Pyridoxine-dependent-developmental and epileptic encephalopathy,"Antenatal, Infancy, Neonatal",Autosomal recessive
780,Rhabdomyosarcoma,Disease,Disorder,2B55.2,0005212,C49.9,180295,C0035412,D012208,10039022,,Rhabdomyosarcoma,Childhood,Multigenic/multifactorial
3111,Rotor syndrome,Disease,Disorder,5C58.0Y,0009379,E80.6,237450,C0220991,,10039234,218,Rotor syndrome,All ages,Autosomal recessive
2382,Lennox-Gastaut syndrome,Disease,Disorder,8A62.1,0016532,G40.4,617113,C0238111,D065768,10048816,9912,Lennox-Gastaut syndrome,"Childhood, Infancy","Autosomal dominant, Multigenic/multifactorial, Not applicable"
2806,Subacute sclerosing leukoencephalitis,Disease,Disorder,8A45.01,0009835,A81.1,260470,C0038522,D013344,10042297,7708,Subacute sclerosing leukoencephalitis,All ages,Not applicable
2467,Systemic mastocytosis,Clinical group,Group of disorders,2A21.0,0016586,C96.2,,C0221013,D034721,10042949,8616,Systemic mastocytosis,All ages,Not applicable
120,NON RARE IN EUROPE: Pernicious anemia,Disease,Disorder,,,D51.0,,,,,,,,
1934,Early infantile developmental and epileptic encephalopathy,Clinical syndrome,Disorder,8A62.Y,,G40.3,617350,C0393706,,10071545,9255,Early infantile developmental and epileptic encephalopathy,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
845,Tay-Sachs disease,Disease,Disorder,5C56.00,0010100,E75.0,272800,C0039373,D013661,10043147,7737,Tay-Sachs disease,All ages,Autosomal recessive
1942,Epilepsy with myoclonic-atonic seizures,Disease,Disorder,8A61.22,0016025,G40.4,618587,C0393702,,10081179,2169,Epilepsy with myoclonic-atonic seizures,Childhood,Unknown
1935,Early myoclonic encephalopathy,Clinical syndrome,Disorder,,0016022,,,C0270855,,,,,,
1943,Early-onset progressive encephalopathy with migrant continuous myoclonus,Disease,Disorder,,0016026,G40.4,,C4510564,,,2995,Early-onset progressive encephalopathy with migrant continuous myoclonus,Childhood,Unknown
3451,West syndrome,Clinical syndrome,Disorder,8A62.0,0018097,,,C0037769,D013036,10021750,7887,,,
3299,Tetanus,Disease,Disorder,1C13,0005526,A35,,C0039614,D013742,10043376,5144,Tetanus,All ages,
2302,Asbestos intoxication,Disease,Disorder,CA60.2,0016466,J61,,C0003949,D001195,10003441,5852,Asbestos intoxication,All ages,
770,Rabies,Disease,Disorder,1C82,0019173,A82.9,,C0034494,D011818,10037742,7516,Rabies,All ages,Not applicable
3386,American trypanosomiasis,Disease,Disorder,1F53,0001444,B57.5,,C0041234,D014355,10001935,,American trypanosomiasis,All ages,Not applicable
267,Calpain-3-related limb-girdle muscular dystrophy R1,Disease,Disorder,8C70.41,0009675,G71.0,253600,C1869123,C535895,,1057,Calpain-3-related limb-girdle muscular dystrophy R1,"Adolescent, Adult, Childhood",Autosomal recessive
1329,Complete atrioventricular septal defect,Morphological anomaly,Disorder,LA87.43,0015273,Q21.2,,C0344787,,,1454,Complete atrioventricular septal defect,"Infancy, Neonatal",Not applicable
582,Mucopolysaccharidosis type 4,Disease,Disorder,5C56.32,0018938,E76.2,253010,C0026707,D009085,10028095,12562,Mucopolysaccharidosis type 4,"Childhood, Infancy",Autosomal recessive
2137,Autoimmune hepatitis,Disease,Disorder,DB96.0,0016264,K75.4,,C4721555,,10003827,5871,Autoimmune hepatitis,"Adolescent, Adult, Childhood, Elderly",Not applicable
186,Primary biliary cholangitis,Disease,Disorder,DB96.1,0005388,K74.3,614221,C0008312,D008105,10080429,7459,Primary biliary cholangitis,"Adolescent, Adult, Elderly","Multigenic/multifactorial, Unknown"
1136,OBSOLETE: Arnold-Chiari malformation type II,Morphological anomaly,Disorder,,,,,,,,,,,
397,Giant cell arteritis,Disease,Disorder,4A44.2,0008538,M31.6,187360,C0039483,D013700,10018250,9615,Giant cell arteritis,Adult,Multigenic/multifactorial
2932,Chronic inflammatory demyelinating polyneuropathy,Disease,Disorder,8C01.3,0006702,G61.8,,C0393819,D020277,10057645,6102,Chronic inflammatory demyelinating polyneuropathy,"Adolescent, Adult, Childhood, Elderly",Not applicable
2398,Multiple symmetric lipomatosis,Disease,Disorder,EF02.1,0007908,E88.8,151800,C0023804,D008069,,6957,Multiple symmetric lipomatosis,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable"
1656,Dermatitis herpetiformis,Disease,Disorder,EB44,0015614,L13.0,601230,C0011608,D003874,10012468,1917,Dermatitis herpetiformis,All ages,Not applicable
183763,Rare genetic syndromic intellectual disability,Category,Group of disorders,,,,,C5680525,,,,,,
855,NON RARE IN EUROPE: Hashimoto thyroiditis,Disease,Disorder,,,E06.3,,,,,,,,
183770,Rare genetic immune disease,Category,Group of disorders,,,,,C5680526,,,,,,
850,May-Hegglin thrombocytopenia,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3198,Stiff person spectrum disorder,Disease,Disorder,8E4A.0,8491,G25.8,184850,C0085292,,10072148,5023,Stiff person spectrum disorder,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
183757,Rare genetic intellectual disability,Category,Group of disorders,,,,,C5680527,,,,,,
2929,Juvenile polyposis syndrome,Disease,Disorder,2B90.Y,0017380,D12.6,612242,C0345893,C537702,10089326,3065,Juvenile polyposis syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
131,Budd-Chiari syndrome,Disease,Disorder,DB98.5,0010947,I82.0,600880,C0856761,D006502,10006537,5968,Budd-Chiari syndrome,All ages,Multigenic/multifactorial
646,Niemann-Pick disease type C,Disease,Disorder,5C56.0Y,0018982,E75.2,607625,C0220756,D052556,,7207,Niemann-Pick disease type C,All ages,Autosomal recessive
654,Nephroblastoma,Disease,Disorder,2C90.Y,0019004,C64,616806,C0027708,D009396,10029145,7892,Nephroblastoma,Childhood,"Autosomal dominant, Not applicable"
1489,Whooping cough,Disease,Disorder,1C12.0,0005077,A37.9,,C0043167,D014917,10047974,8692,Whooping cough,All ages,
2764,Osteochondritis dissecans,Disease,Disorder,FB82.1,0017178,M93.2,,C0029421,D010008,10031231,12703,Osteochondritis dissecans,All ages,Not applicable
2587,Myeloperoxidase deficiency,Disease,Disorder,4A00.0Y,0009694,E80.3,254600,C0398595,C562864,10074767,3868,Myeloperoxidase deficiency,All ages,Autosomal recessive
3389,Tuberculosis,Clinical group,Group of disorders,,0018076,A15,607948,C0041296,D014376,10044755,,Tuberculosis,All ages,Not applicable
1679,Diphtheria,Disease,Disorder,1C17.Y,0005504,A36.9,,C0012546,D004165,10013023,1875,Diphtheria,All ages,
1267,Botulism,Disease,Disorder,1A11,0005498,A05.1,,C0006057,D001906,10006041,943,Botulism,All ages,Not applicable
2897,Pityriasis rubra pilaris,Disease,Disorder,EA94,,L44.0,173200,C0032027,D010916,10035116,7401,Pityriasis rubra pilaris,All ages,"Autosomal dominant, Not applicable"
183672,OBSOLETE: Common variable immunodeficiency due to TNFR deficiency,Etiological subtype,Subtype of disorder,,,,,,,,,,,
2103,Guillain-Barré syndrome,Clinical group,Group of disorders,8C01.0,0016218,G61.0,,C0018378,D020275,10018767,6554,Guillain-Barré syndrome,All ages,Multigenic/multifactorial
183669,Agammaglobulinemia,Category,Group of disorders,,0015977,,,C0001768,D000361,10001471,,,,
183666,Hyper-IgM syndrome without susceptibility to opportunistic infections,Disease,Disorder,4A01.1Y,0015976,D80.5,608184,C5190886,D053306,,,,,
2070,Eosinophilic gastroenteritis,Disease,Disorder,DA94.21,0016129,K52.8,,C1262481,C535952,10017902,9142,Eosinophilic gastroenteritis,All ages,Not applicable
183663,Hyper-IgM syndrome with susceptibility to opportunistic infections,Disease,Disorder,4A01.1Y,0015975,D80.5,606843,C5190885,,,,,,
2312,Transient familial neonatal hyperbilirubinemia,Disease,Disorder,KA87.Y,0009383,P59.8,237900,C0270210,C562692,,2791,Transient familial neonatal hyperbilirubinemia,Neonatal,
183707,Infantile LAD-like disease due to RAC2 deficiency,Disease,Disorder,4A00.00,0011988,D71,608203,C5924996,C564275,,,Infantile LAD-like disease due to RAC2 deficiency,"Infancy, Neonatal",Autosomal dominant
2314,Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency,Disease,Disorder,4A01.34,0007818,D82.4,147060,C2936739,D007589,,6800,Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency,"Infancy, Neonatal",Autosomal dominant
183681,Congenital functional phagocyte defect,Category,Group of disorders,4A00.0,0015978,,,C5924997,,,,,,
183678,Hermansky-Pudlak syndrome due to AP-3 deficiency,Clinical subtype,Subtype of disorder,EC23.20,,E70.3,617050,C1842362,,,,Hermansky-Pudlak syndrome due to AP-3 deficiency,Neonatal,Autosomal recessive
449,Hepatoblastoma,Disease,Disorder,2C12.01,0018666,C22.2,114550,C0206624,D018197,10062001,2657,Hepatoblastoma,"Childhood, Infancy, Neonatal",Not applicable
183675,Recurrent infections associated with rare immunoglobulin isotypes deficiency,Disease,Disorder,4A01.04,0013576,D80.8,614102,C3279824,C564131,,,Recurrent infections associated with rare immunoglobulin isotypes deficiency,Childhood,Unknown
2177,Hydranencephaly,Malformation syndrome,Disorder,LA05.62,0016344,Q04.3,605013,C0020225,D006832,10073472,6681,Hydranencephaly,"Antenatal, Neonatal","Autosomal recessive, Unknown"
183731,Rare genetic gynecological and obstetrical diseases,Category,Group of disorders,,,,,C5680528,,,,,,
533,Listeriosis,Disease,Disorder,1C1A.Y,0005828,A32.8,,C5886852,D008088,10024641,6915,Listeriosis,All ages,Not applicable
183716,OBSOLETE: Other complex syndrome of primary immunodeficiency,Category,Group of disorders,,,,,,,,,,,
183713,OBSOLETE: Bacterial susceptibility due to TLR signaling pathway deficiency,Disease,Disorder,,,,,,,,,,,
2372,Laryngocele,Malformation syndrome,Disorder,LA71.1,0016530,Q31.3,,C0265761,D059608,10023885,3191,Laryngocele,All ages,
183710,Genetic susceptibility to infections due to particular pathogens,Category,Group of disorders,4A00.2,,,,C5680530,,,,,,
2380,Legg-Calvé-Perthes disease,Disease,Disorder,FB82.1,0007885,M91.1,150600,C1442965,D007873,10034735,6874,Legg-Calvé-Perthes disease,Childhood,"Autosomal dominant, Multigenic/multifactorial"
683,Progressive supranuclear palsy,Disease,Disorder,8A00.10,0019037,G23.1,609454,C0038868,D013494,10036813,7471,Progressive supranuclear palsy,"Adult, Elderly",Not applicable
677,Pancreatoblastoma,Disease,Disorder,2C10.0,0019035,C25.1,,C0334489,C537162,10073367,4210,Pancreatoblastoma,"Adult, Childhood",Not applicable
2810,NON RARE IN EUROPE: Idiopathic facial palsy,Disease,Disorder,,,G51.0,,,,,,,,
183734,Genetic gynecological tumor,Category,Group of disorders,,,,,C5680531,,,,,,
183651,Rare constitutional anemia,Category,Group of disorders,,,,,C5680532,,,,,,
183660,Severe combined immunodeficiency,Clinical group,Group of disorders,4A01.10,0015974,,,C0085110,D016511,10069566,7628,Severe combined immunodeficiency,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
897,Waardenburg-Shah syndrome,Disease,Disorder,LD2H.3,0019518,Q87.8,613266,C1848519,C536467,,5524,Waardenburg-Shah syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
183654,Rare genetic coagulation disorder,Category,Group of disorders,,,,,C5680533,,,,,,
183637,Rare genetic adrenal disease,Category,Group of disorders,,,,,C5680534,,,,,,
808,Seckel syndrome,Malformation syndrome,Disorder,LD24.D,0019342,Q87.1,617523,C0265202,C537533,,8562,Seckel syndrome,Antenatal,Autosomal recessive
183643,Genetic polyendocrinopathy,Category,Group of disorders,,,,,C5680535,,,,,,
183628,Rare genetic hypothalamic or pituitary disease,Category,Group of disorders,,,,,C5680536,,,,,,
183625,Rare genetic diabetes mellitus,Category,Group of disorders,,,,,C5680537,,,,,,
183634,Rare genetic parathyroid disease and phosphocalcic metabolism disorder,Category,Group of disorders,,,,,C5680538,,,,,,
844,OBSOLETE: Lown-Ganong-Levine syndrome,Disease,Disorder,,,,,,,,,,,
183631,Rare genetic thyroid disease,Category,Group of disorders,,,,,C5680539,,,,,,
183616,Genetic neuro-ophthalmological disease,Category,Group of disorders,,,,,C5680540,,,,,,
3027,Caudal regression syndrome,Malformation syndrome,Disorder,LD2F.1Y,0017607,Q76.0,600145,C0300948,,10059387,6007,Caudal regression syndrome,"Antenatal, Neonatal","Multigenic/multifactorial, Not applicable"
183622,Genetic respiratory malformation,Category,Group of disorders,,,,,C5680541,,,,,,
183619,Genetic eye tumor,Category,Group of disorders,,,,,C5681835,,,,,,
183601,OBSOLETE: Rare genetic refraction anomaly,Category,Group of disorders,,,,,,,,,,,
183604,OBSOLETE: Rare genetic glaucoma,Category,Group of disorders,,,,,,,,,,,
183607,Genetic lens and zonula anomaly,Category,Group of disorders,,,,,C5680542,,,,,,
676,Autosomal dominant hereditary chronic pancreatitis,Disease,Disorder,DC32.2,0008185,K86.1,167800,C0238339,,,6632,Autosomal dominant hereditary chronic pancreatitis,"Adolescent, Childhood",Autosomal dominant
183589,Genetic thrombotic microangiopathy,Category,Group of disorders,,,,,C5680543,,,,,,
183592,Genetic renal tubular disease,Category,Group of disorders,,,,,C5680544,,,,,,
643,Giant axonal neuropathy,Disease,Disorder,8C2Y,0009749,G60.8,256850,C5200933,D056768,,6500,Giant axonal neuropathy,"Childhood, Infancy",Autosomal recessive
183595,Genetic renal tumor,Category,Group of disorders,,,,,C5680545,,,,,,
183598,"OBSOLETE: Rare genetic palpebral, lacrimal system and conjunctival disease",Category,Group of disorders,,,,,,,,,,,
634,Netherton syndrome,Disease,Disorder,LD27.2,0009735,Q80.8,256500,C5574950,D056770,10062909,7182,Netherton syndrome,"Infancy, Neonatal",Autosomal recessive
140,Campomelic dysplasia,Malformation syndrome,Disorder,LD2A.Y,0007251,Q87.1,602196,C1861922,D055036,,10027,Campomelic dysplasia,"Antenatal, Neonatal",Autosomal dominant
183576,Genetic branchial arch or oral-acral syndrome,Category,Group of disorders,,,,,C5680546,,,,,,
2828,Young-onset Parkinson disease,Disease,Disorder,8A00.00,0017279,G20,613643,C4275179,,,,Young-onset Parkinson disease,Adult,Autosomal recessive
183580,Genetic malformation syndrome with odontal and/or periodontal component,Category,Group of disorders,,,,,C5680547,,,,,,
642,Hereditary sensory and autonomic neuropathy type 4,Disease,Disorder,8C21.2,0009746,G60.8,256800,C0020074,,,3006,Hereditary sensory and autonomic neuropathy type 4,"Childhood, Infancy, Neonatal",Autosomal recessive
183583,Genetic head and neck malformation,Category,Group of disorders,,,,,C5680548,,,,,,
183586,Genetic glomerular disease,Category,Group of disorders,,,,,C5680549,,,,,,
183557,Genetic developmental defect of the eye,Category,Group of disorders,,,,,C5680550,,,,,,
627,Nance-Horan syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010545,Q87.0,302350,C0796085,C538336,,7161,Nance-Horan syndrome,Neonatal,X-linked dominant
183570,Genetic malformation syndrome with short stature,Category,Group of disorders,,,,,C5680551,,,,,,
638,Neurofibromatosis-Noonan syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011035,Q87.1,601321,C2931482,C537393,,372,Neurofibromatosis-Noonan syndrome,"Infancy, Neonatal",Autosomal dominant
183573,Genetic overgrowth/obesity syndrome,Category,Group of disorders,,,,,C5680552,,,,,,
326,Congenital factor V deficiency,Disease,Disorder,3B14.Z,0009210,D68.2,227400,C0015499,D005166,10048930,2237,Congenital factor V deficiency,All ages,Autosomal recessive
183554,Genetic respiratory or mediastinal malformation,Category,Group of disorders,,,,,C5680553,,,,,,
526,Liddle syndrome,Disease,Disorder,BA04.Y,0008323,I15.1,177200,C0221043,D056929,10052313,7381,Liddle syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
183548,"Genetic visceral malformation of the liver, biliary tract, pancreas or spleen",Category,Group of disorders,,,,,C5680554,,,,,,
650,LCAT deficiency,Disease,Disorder,5C81.0,0018999,E78.6,245900,C5779633,D007863,10077917,,LCAT deficiency,All ages,Autosomal recessive
427,Familial hypoaldosteronism,Disease,Disorder,5A73,0018541,E27.4,610600,C4275180,,,,Familial hypoaldosteronism,"Adolescent, Adult, Infancy, Neonatal",Autosomal recessive
183545,Genetic digestive tract malformation,Category,Group of disorders,,,,,C5681837,,,,,,
183542,Genetic cranial malformation,Category,Group of disorders,,,,,C5680555,,,,,,
215,Congenital stationary night blindness,Clinical group,Group of disorders,9D45,0016293,H53.6,,C0339535,C536122,,3995,Congenital stationary night blindness,Neonatal,"Autosomal dominant, Autosomal recessive, X-linked recessive"
183539,Genetic renal or urinary tract malformation,Category,Group of disorders,,,,,C5680556,,,,,,
342,Familial Mediterranean fever,Disease,Disorder,4A60.0,0018088,E85.0,249100,C0031069,D010505,10016207,6421,Familial Mediterranean fever,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
183536,Genetic congenital limb malformation,Category,Group of disorders,,,,,C5680557,,,,,,
180,Choroideremia,Disease,Disorder,9B61,0010557,H31.2,303100,C0008525,D015794,10008791,6061,Choroideremia,"Adolescent, Adult, Childhood",X-linked recessive
183533,Genetic multiple congenital anomalies/dysmorphic syndrome,Category,Group of disorders,,,,,C5680558,,,,,,
183530,Rare genetic developmental defect during embryogenesis,Category,Group of disorders,,,,,C5680559,,,,,,
754,Androgen insensitivity syndrome,Clinical group,Group of disorders,LD2A.4,0019154,E34.5,,C0039585,D013734,10056292,5803,Androgen insensitivity syndrome,"Antenatal, Neonatal",X-linked recessive
253,Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,Clinical group,Group of disorders,LD24.3,,Q77.7,,C5679593,,,7687,Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,All ages,
183527,Genetic bone tumor,Category,Group of disorders,,,,,C5680560,,,,,,
183524,Rare genetic bone disease,Category,Group of disorders,,,,,C5680561,,,,,,
327,Congenital factor VII deficiency,Disease,Disorder,3B14.Z,0009211,D68.2,227500,C0015503,D005168,10016079,2238,Congenital factor VII deficiency,All ages,"Autosomal dominant, Autosomal recessive"
183521,Rare genetic movement disorder,Category,Group of disorders,,,,,C5680562,,,,,,
183518,Hereditary ataxia,Category,Group of disorders,,0100309,,,C0004138,,,,,,
183515,Rare genetic medullar disease,Category,Group of disorders,,,,,C5681838,,,,,,
373,Simpson-Golabi-Behmel syndrome,Malformation syndrome,Disorder,LD2C,0010731,Q87.3,312870,C4317043,C537340,10085695,7649,Simpson-Golabi-Behmel syndrome,"Antenatal, Childhood, Infancy, Neonatal",X-linked recessive
183512,Rare genetic epilepsy,Category,Group of disorders,,,,,C5680564,,,,,,
183509,Rare genetic headache,Category,Group of disorders,,,,,C5680565,,,,,,
403,Familial hyperaldosteronism type I,Disease,Disorder,5A72.0,0007080,E26.0,103900,C3838731,C563177,,2790,Familial hyperaldosteronism type I,"Adolescent, Adult, Childhood",Autosomal dominant
183503,Genetic central nervous system and retinal vascular disease,Category,Group of disorders,,,,,C5681839,,,,,,
183506,Genetic central nervous system malformation,Category,Group of disorders,,,,,C5680566,,,,,,
574,21q deletion syndrome,Malformation syndrome,Disorder,LD44.M,0018930,Q93.0,,C0795876,C537108,,10860,21q deletion syndrome,"Antenatal, Neonatal",
183497,Genetic neuromuscular disease,Category,Group of disorders,,,,,C5680567,,,,,,
183500,Genetic neurodegenerative disease,Category,Group of disorders,,,,,C5680568,,,,,,
151,OBSOLETE: Familial renal cell carcinoma,Category,Group of disorders,,,,,,,,,,,
183490,Genetic photodermatosis,Category,Group of disorders,,,,,C5679594,,,,,,
653,Multiple endocrine neoplasia type 2,Disease,Disorder,2F7A.0,0019003,D44.8,155240,C4048306,,10073149,3830,Multiple endocrine neoplasia type 2,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
183494,Genetic immune deficiency with skin involvement,Category,Group of disorders,,,,,C5680569,,,,,,
146,Differentiated thyroid carcinoma,Disease,Disorder,,0015447,C73,607464,C1337013,,,12027,Differentiated thyroid carcinoma,"Adolescent, Adult, Childhood",Not applicable
183484,Genetic subcutaneous tissue disorder,Category,Group of disorders,,,,,C5680570,,,,,,
183487,Genetic skin tumor or hamartoma,Category,Group of disorders,,,,,C5680571,,,,,,
1331,Familial prostate cancer,Disease,Disorder,2C82.Y,0700275,C61,608656,C2931456,C537243,,4520,Familial prostate cancer,Adult,Not applicable
183478,Genetic skin vascular disorder,Category,Group of disorders,,,,,C5680572,,,,,,
183481,Genetic mixed dermis disorder,Category,Group of disorders,,,,,C5680573,,,,,,
157,Carnitine palmitoyltransferase II deficiency,Disease,Disorder,5C52.00,0015515,E71.3,608836,C0342790,C535589,,1121,Carnitine palmitoyltransferase II deficiency,All ages,Autosomal recessive
183472,Genetic dermis disorder,Category,Group of disorders,,,,,C5680574,,,,,,
847,X-linked alpha-thalassemia-intellectual disability syndrome,Malformation syndrome,Disorder,3A50.1,0010519,D56.0,309580,C1845055,C538258,10082291,5864,X-linked alpha-thalassemia-intellectual disability syndrome,"Infancy, Neonatal",X-linked recessive
183466,Genetic hyperpigmentation of the skin,Category,Group of disorders,,,,,C5680575,,,,,,
183469,Genetic hypopigmentation of the skin,Category,Group of disorders,,,,,C5680576,,,,,,
183460,Genetic sebaceous gland anomaly,Category,Group of disorders,,,,,C5680577,,,,,,
1446,Ring chromosome 22 syndrome,Malformation syndrome,Disorder,LD7Y,0015438,Q93.2,,C0265492,C536795,,1336,Ring chromosome 22 syndrome,"Infancy, Neonatal",
183463,Genetic pigmentation anomaly of the skin,Category,Group of disorders,,,,,C5680578,,,,,,
183438,Genetic erythrokeratoderma,Category,Group of disorders,,,,,C5680579,,,,,,
183435,Inherited ichthyosis,Category,Group of disorders,,0015947,,,C0856562,,10021202,,,,
2268,ICF syndrome,Malformation syndrome,Disorder,4A01.00,0000133,D84.8,614069,C0398788,,,2945,ICF syndrome,Childhood,Autosomal recessive
183444,Genetic porokeratosis,Category,Group of disorders,,,,,C5680580,,,,,,
183441,Genetic acrokeratoderma,Category,Group of disorders,,,,,C5680581,,,,,,
183450,Genetic hair anomaly,Category,Group of disorders,,,,,C5680582,,,,,,
183447,Genetic epidermal appendage anomaly,Category,Group of disorders,,,,,C5680583,,,,,,
475,Isolated Joubert syndrome,Malformation syndrome,Disorder,LD20.00,0018772,Q04.3,617622,C0431399,,10078574,6802,Isolated Joubert syndrome,Antenatal,Autosomal recessive
392,Holt-Oram syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007732,Q87.2,142900,C0265264,C535326,10050469,6666,Holt-Oram syndrome,"Antenatal, Neonatal",Autosomal dominant
183454,Genetic nail anomaly,Category,Group of disorders,,,,,C5680584,,,,,,
182228,Systemic autoimmune disease,Category,Group of disorders,,,,,C2895206,,,,,,
182222,Rare systemic disease,Category,Group of disorders,,,,,C5680585,,,,,,
113,Bazex-Dupré-Christol syndrome,Disease,Disorder,LD27.5,0010535,L98.8,301845,C0346104,C537663,,838,Bazex-Dupré-Christol syndrome,"Infancy, Neonatal",X-linked dominant
86,Familial abdominal aortic aneurysm,Disease,Disorder,BD50.4Z,0007031,I71.4,614375,C4275172,,,9181,Familial abdominal aortic aneurysm,"Adult, Elderly",
182231,Rare rheumatologic disease,Category,Group of disorders,,,,,C5680586,,,,,,
243,"46,XX gonadal dysgenesis",Malformation syndrome,Disorder,LB45.1,0009299,Q99.1,618117,C0949595,D023961,,5671,"46,XX gonadal dysgenesis","Adolescent, Adult","Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
182734,Genetic urticaria,Clinical group,Group of disorders,,,,,C5680587,,,,,,
183426,Genetic epidermal disorder,Category,Group of disorders,,,,,C5680588,,,,,,
183422,Polymalformative genetic syndrome with increased risk of developing cancer,Category,Group of disorders,,,,,C5680589,,,,Polymalformative genetic syndrome with increased risk of developing cancer,All ages,"Autosomal dominant, Autosomal recessive"
182111,Respiratory malformation,Category,Group of disorders,,,,,C5680590,,,,,,
136,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,Disease,Disorder,8B22.C0,0000914,I67.8,125310,C0751587,D046589,10065551,1049,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,Adult,Autosomal dominant
182114,Rare urogenital tumor,Category,Group of disorders,,,,,C5680591,,,,,,
48,Congenital bilateral absence of vas deferens,Morphological anomaly,Disorder,LB57,0018801,Q55.4,300985,C0403814,C535984,10010670,5461,Congenital bilateral absence of vas deferens,"Adolescent, Adult",Multigenic/multifactorial
182117,Non-syndromic urogenital tract malformation of female,Category,Group of disorders,,,,,C5680592,,,,,,
182121,Non-syndromic urogenital tract malformation of male,Category,Group of disorders,,,,,C5680593,,,,,,
182124,Non-syndromic urogenital tract malformation of male and female,Category,Group of disorders,,,,,C5680594,,,,,,
182127,Extragonadal germinoma,Disease,Disorder,,0015935,C72.9,,C5190513,D018237,10018207,2005,,,
182130,Tumor of endocrine glands,Category,Group of disorders,,,,,C0014132,D004701,10061121,,,,
528,Congenital generalized lipodystrophy,Disease,Disorder,LD27.60,0018883,E88.1,612526,C0221032,D052497,10053547,13388,Congenital generalized lipodystrophy,"Childhood, Infancy, Neonatal",Autosomal recessive
182214,OBSOLETE: Rare inflammatory eye disease,Category,Group of disorders,,,,,,,,,,,
275,Severe combined immunodeficiency due to DCLRE1C deficiency,Disease,Disorder,4A01.10,0011225,D81.1,602450,C1865371,C536786,,9987,Severe combined immunodeficiency due to DCLRE1C deficiency,"Infancy, Neonatal",Autosomal recessive
182083,Channelopathy with epilepsy,Category,Group of disorders,,,,,C5680595,,,,,,
182086,Acquired peripheral neuropathy,Category,Group of disorders,,0015923,,,C5680596,,,,,,
182090,Pulmonary arterial hypertension,Category,Group of disorders,BB01.0,0015924,,,C2973725,D000081029,10064911,7501,Pulmonary arterial hypertension,All ages,"Autosomal dominant, Not applicable"
182095,Interstitial lung disease,Category,Group of disorders,,0015925,,,C0206062,D017563,10022611,,,,
182098,Pneumoconiosis,Clinical group,Group of disorders,CA60,0015926,,,C0032273,D011009,10035653,,,,
184,Cherubism,Malformation syndrome,Disorder,LD24.22,0007315,K10.8,118400,C0008029,D002636,10070535,6036,Cherubism,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable"
182101,Idiopathic eosinophilic pneumonia,Clinical group,Group of disorders,,0015927,J82,,C3872845,,,,,,
182104,Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease,Category,Group of disorders,,,,,C5679595,,,,,,
1047,Sideroblastic anemia,Category,Group of disorders,,0015194,,619523,C0002896,D000756,10040661,,Sideroblastic anemia,All ages,"Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked dominant, X-linked recessive"
182108,Thoracic malformation,Category,Group of disorders,,0015929,,,C5680597,,,,,,
71,Chylomicron retention disease,Disease,Disorder,5C81.1,0009528,E78.6,246700,C0795956,C535460,,9683,Chylomicron retention disease,"Childhood, Infancy",Autosomal recessive
182067,Glial tumor,Clinical group,Group of disorders,,0021042,,613033,C0017638,D005910,10018338,6513,,,
182064,Rare neuroinflammatory or neuroimmunological disease,Category,Group of disorders,,,,,C5680598,,,,,,
182061,Cerebellar malformation,Category,Group of disorders,,,,,C4025708,,,,,,
182058,Primary orthostatic hypotension,Clinical group,Group of disorders,,0015914,,,C5680599,,,12959,,,
182079,ARX-related epileptic encephalopathy,Clinical group,Group of disorders,,,,,C5680600,,,,,,
1949,Self-limited neonatal epilepsy,Disease,Disorder,8A61.0Y,0016027,G40.3,608217,C0220669,,10067866,1519,Self-limited neonatal epilepsy,Neonatal,Autosomal dominant
182076,OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability,Category,Group of disorders,,,,,,,,,,,
189,Hidrotic ectodermal dysplasia,Disease,Disorder,LD27.03,0007510,Q82.8,129500,C0162361,,,2056,Hidrotic ectodermal dysplasia,Childhood,Autosomal dominant
1473,Uveal coloboma-cleft lip and palate-intellectual disability,Malformation syndrome,Disorder,LD2F.1Y,0007355,Q13.8,120433,C4305003,,,1440,Uveal coloboma-cleft lip and palate-intellectual disability,Neonatal,Autosomal dominant
182073,OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability,Category,Group of disorders,,,,,,,,,,,
182070,Rare neurodegenerative disease,Category,Group of disorders,,,,,C5680602,,,,,,
194,OBSOLETE: Ocular coloboma,Category,Group of disorders,,,,,,,,,,,
182040,Rare aplastic anemia,Category,Group of disorders,,,,,C5816682,,,,,,
182054,Rare thrombotic disease of hematologic origin,Category,Group of disorders,,,,,C5680603,,,,,,
1344,Isolated atrial standstill,Disease,Disorder,BC80.Y,0015281,I45.5,615745,C0541782,,10087237,,Isolated atrial standstill,Adult,"Autosomal dominant, Not applicable"
182050,MYH9-related syndromic thrombocytopenia,Disease,Disorder,3B64.01,0015912,D69.4,155100,C5200934,C535507,10079437,180,MYH9-related syndromic thrombocytopenia,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
182047,Rare acquired hemolytic anemia,Category,Group of disorders,,,,,C5680604,,,,,,
182043,Rare constitutional hemolytic anemia,Category,Group of disorders,,,,,C5680605,,,,,,
3103,Roberts syndrome,Malformation syndrome,Disorder,LD2F.1Y,0100253,Q73.8,268300,C0392475,C535687,10084326,7387,Roberts syndrome,"Antenatal, Neonatal",Autosomal recessive
181425,OBSOLETE: Rare major hypertriglyceridemia,Category,Group of disorders,,,,,,,,,,,
181428,Familial Hyperalphalipoproteinemia,Biological anomaly,Disorder,5C80.3,0015903,,614028,C0342883,,,,Familial Hyperalphalipoproteinemia,,Autosomal dominant
181419,Rare hypoaldosteronism,Category,Group of disorders,,,,,C5680606,,,,,,
181422,Rare hyperlipidemia,Category,Group of disorders,,,,,C5680607,,,,,,
709,Peters plus syndrome,Malformation syndrome,Disorder,LD21.Y,0009856,Q13.8,261540,C0796012,C537617,,8422,Peters plus syndrome,"Antenatal, Neonatal",Autosomal recessive
181437,Rare syndromic dyslipidemia,Category,Group of disorders,,,,,C5680608,,,,,,
181441,Rare disorder with hypergonadotropic hypogonadism,Category,Group of disorders,,,,,C5679596,,,,,,
181431,Rare hypolipidemia,Category,Group of disorders,,,E78.6,,C5680609,,,,,,
776,Lujan-Fryns syndrome,Malformation syndrome,Disorder,,0010655,Q87.8,300799,C0796022,C537724,,3307,Lujan-Fryns syndrome,"Infancy, Neonatal",X-linked recessive
181399,Rare hyperthyroidism,Category,Group of disorders,,,,,C5680610,,,,,,
670,PIBIDS syndrome,Disease,Disorder,,,,601675,C1866504,,,,,,
181402,Syndrome with hypoparathyroidism,Category,Group of disorders,,,,,C5680611,,,,,,
907,NON RARE IN EUROPE: Wolff-Parkinson-White syndrome,Disease,Disorder,,,,,,,,,,,
181393,Growth hormone insensitivity syndrome,Category,Group of disorders,,0015892,,,C4318479,,,3924,,,
902,Werner syndrome,Disease,Disorder,LD2B,0010196,E34.8,277700,C0043119,D014898,10049429,7885,Werner syndrome,"Adolescent, Adult",Autosomal recessive
181396,Rare hypothyroidism,Category,Group of disorders,,,,,C5680612,,,,,,
888,Van der Woude syndrome,Malformation syndrome,Disorder,LD2F.1Y,0019508,Q38.0,606713,C0175697,C536528,,8414,Van der Woude syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
181412,Adrenogenital syndrome,Category,Group of disorders,5A71,0015898,,,C0302280,D047808,10061630,,,,
181415,Rare primary hyperaldosteronism,Category,Group of disorders,,,,,C5679597,,,,,,
453,IBIDS syndrome,Disease,Disorder,,,,,C1866505,,,,,,
181405,Rare hypoparathyroidism,Category,Group of disorders,,,,,C5680613,,,,,,
871,Hereditary progressive cardiac conduction defect,Disease,Disorder,BC63.Y,0019490,I45.8,612838,C1879286,C566873,,10005,Hereditary progressive cardiac conduction defect,Adult,Autosomal dominant
181408,Rare hyperparathyroidism,Category,Group of disorders,,,,,C5680614,,,,,,
1597,Distal deletion 17q syndrome,Malformation syndrome,Disorder,LD44.H0,0015562,Q93.5,,C4275171,,,10972,Distal deletion 17q syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
1590,Distal deletion 13q syndrome,Malformation syndrome,Disorder,LD44.D,0011248,Q93.5,602553,C4706502,,,,Distal deletion 13q syndrome,"Antenatal, Infancy, Neonatal",
1587,Monosomy 13q14 syndrome,Malformation syndrome,Disorder,LD44.D,0013481,Q93.5,613884,C4749304,,,,Monosomy 13q14 syndrome,"Infancy, Neonatal",Not applicable
1625,OBSOLETE: Deletion 4q,Malformation syndrome,Disorder,,,,,,,,,,,
1621,3q13 microdeletion syndrome,Malformation syndrome,Disorder,LD44.30,0014185,Q93.5,615433,C2931338,C536808,,,3q13 microdeletion syndrome,"Antenatal, Neonatal",Not applicable
1620,Distal deletion 3p syndrome,Malformation syndrome,Disorder,,0013424,Q87.8,613792,C4706503,,,3750,Distal deletion 3p syndrome,"Antenatal, Neonatal",
1611,OBSOLETE: Deletion 20p,Malformation syndrome,Disorder,,,,,,,,,,,
1643,Xp22.3 microdeletion syndrome,Malformation syndrome,Disorder,,0015606,Q99.8,,C4512072,,,,Xp22.3 microdeletion syndrome,Neonatal,Not applicable
1627,Deletion 5q35 syndrome,Malformation syndrome,Disorder,LD44.50,0015571,Q93.5,,C2931574,C537647,,,Deletion 5q35 syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
1699,Trisomy 12p syndrome,Malformation syndrome,Disorder,LD41.B1,0015723,Q92.3,,C0795845,C538299,,5305,Trisomy 12p syndrome,Neonatal,"Not applicable, Unknown"
1695,Non-distal duplication 10q syndrome,Malformation syndrome,Disorder,,0015712,Q92.3,,C4749376,,,,Non-distal duplication 10q syndrome,Neonatal,
500,Noonan syndrome with multiple lentigines,Malformation syndrome,Disorder,LD2F.1Y,0007893,Q87.1,613707,C0175704,D044542,10062901,1100,Noonan syndrome with multiple lentigines,Neonatal,Autosomal dominant
507,Leishmaniasis,Disease,Disorder,1F54.1,0011989,B55.9,608207,C0023281,D007896,10024198,6881,Leishmaniasis,All ages,Not applicable
548,Leprosy,Disease,Disorder,1B20,0005124,A30.9,613407,C0023343,D007918,10024229,6886,Leprosy,All ages,Multigenic/multifactorial
233,Duane retraction syndrome,Malformation syndrome,Disorder,9C82.2,0007473,H50.8,616219,C0013261,D004370,10013799,6288,Duane retraction syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
657,Congenital isolated hyperinsulinism,Clinical group,Group of disorders,,0019010,,,C3888018,D044903,,3947,Congenital isolated hyperinsulinism,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
2445,Conotruncal heart malformations,Category,Group of disorders,,0016581,,217095,C1857586,C535464,,8189,,,
2495,Meningioma,Disease,Disorder,2A01.0,0016642,D32.9,606190,C0025286,D008579,10027191,7015,Meningioma,All ages,Not applicable
569,Familial or sporadic hemiplegic migraine,Disease,Disorder,8A80.10,0018925,G43.1,609634,C0270862,,,10768,Familial or sporadic hemiplegic migraine,Childhood,Autosomal dominant
323,NON RARE IN EUROPE: FG syndrome phenotypic spectrum,Malformation syndrome,Disorder,,,,,,,,,,,
2014,Cleft palate,Clinical group,Group of disorders,LA42,0016064,Q35,119540,C0008925,D002972,10009269,1896,Cleft palate,"Antenatal, Neonatal","Multigenic/multifactorial, Not applicable"
240,Léri-Weill dyschondrosteosis,Malformation syndrome,Disorder,LD24.A,0007481,Q77.8,127300,C0265309,C537119,,3224,Léri-Weill dyschondrosteosis,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
2311,Autosomal recessive spondylocostal dysostosis,Malformation syndrome,Disorder,LD24.H,0010180,Q76.8,616566,C0265343,C537565,,6798,Autosomal recessive spondylocostal dysostosis,"Antenatal, Neonatal",Autosomal recessive
358,Gitelman syndrome,Disease,Disorder,5C64.41,0009904,N15.8,263800,C0268450,D053579,10062906,8547,Gitelman syndrome,Childhood,Autosomal recessive
242,"46,XY complete gonadal dysgenesis",Malformation syndrome,Disorder,LD2A.1,0010765,Q99.1,616425,C2936694,,10084327,5068,"46,XY complete gonadal dysgenesis","Adolescent, Adult","Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked"
2052,Fraser syndrome,Malformation syndrome,Disorder,LD2H.0,0009046,Q87.0,219000,C0265233,D058497,10080219,6465,Fraser syndrome,"Antenatal, Neonatal",Autosomal recessive
1354,Heart defects-limb shortening syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008917,,212135,C1859327,C535850,,2613,Heart defects-limb shortening syndrome,Neonatal,Autosomal recessive
1358,Carey-Fineman-Ziter syndrome,Malformation syndrome,Disorder,LD2F.1Y,0031415,Q87.0,619941,C1850746,C536102,,3889,Carey-Fineman-Ziter syndrome,Neonatal,Autosomal recessive
557,Non-syndromic anorectal malformation,Clinical group,Group of disorders,LB17.0,,,301800,C5680419,C537771,,,Non-syndromic anorectal malformation,"Antenatal, Neonatal",
111,Barth syndrome,Disease,Disorder,5C50.E0,0010543,E71.1,302060,C0574083,D056889,10078537,5890,Barth syndrome,Childhood,X-linked recessive
10,"48,XXYY syndrome",Malformation syndrome,Disorder,LD50.3Y,0015028,Q98.8,,C2936741,D007713,10048230,5677,"48,XXYY syndrome","Adolescent, Childhood, Infancy, Neonatal","Not applicable, Unknown"
1308,C syndrome,Malformation syndrome,Disorder,LD24.GY,0008893,Q87.8,211750,C0796095,C537418,10083975,5978,C syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
150,Nasopharyngeal carcinoma,Disease,Disorder,2E60.0,0015459,C11.3,617075,C2931822,D000077274,10028793,7163,Nasopharyngeal carcinoma,All ages,"Multigenic/multifactorial, Not applicable"
133,Chronic beryllium disease,Disease,Disorder,CA60.6,0015274,J63.2,,C0221052,D001607,10004485,867,Chronic beryllium disease,Adult,Not applicable
1552,Currarino syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008305,Q87.8,176450,C1531773,C536221,10079857,1626,Currarino syndrome,All ages,"Autosomal dominant, Not applicable"
1450,Ring chromosome 8 syndrome,Malformation syndrome,Disorder,LD7Y,0015443,Q93.2,,C4274902,C537824,,1347,Ring chromosome 8 syndrome,"Antenatal, Neonatal",
1448,Ring chromosome 6 syndrome,Malformation syndrome,Disorder,LD7Y,0015440,Q93.2,,C0795814,C537763,,6095,Ring chromosome 6 syndrome,"Antenatal, Infancy, Neonatal",
1581,Non-distal deletion 10q syndrome,Malformation syndrome,Disorder,LD44.A0,0015546,Q93.5,,C4749375,,,,Non-distal deletion 10q syndrome,"Antenatal, Neonatal",
1580,Distal deletion 10p syndrome,Clinical group,Group of disorders,LD44.A1,0011055,Q93.5,,C4304502,,,1323,Distal deletion 10p syndrome,Childhood,"Not applicable, Unknown"
1437,Ring chromosome 1 syndrome,Malformation syndrome,Disorder,LD7Y,0015430,Q93.2,,C0265395,C535361,,1320,Ring chromosome 1 syndrome,Neonatal,
172,Progressive familial intrahepatic cholestasis,Disease,Disorder,5C58.03,0015762,K76.8,619484,,,10076033,,Progressive familial intrahepatic cholestasis,"Adolescent, Childhood, Infancy, Neonatal",Autosomal recessive
164,NON RARE IN EUROPE: Cerebral cavernous malformations,Disease,Disorder,,,,,,,,,,,
1447,Ring chromosome 4 syndrome,Malformation syndrome,Disorder,LD7Y,0015439,Q93.2,,C0265407,C537636,,1339,Ring chromosome 4 syndrome,"Infancy, Neonatal",
1444,Ring chromosome 20 syndrome,Malformation syndrome,Disorder,LD7Y,0015436,Q93.2,,C0265482,C580424,,1334,Ring chromosome 20 syndrome,"Adolescent, Adult, Childhood, Infancy",Unknown
1439,Ring chromosome 12 syndrome,Malformation syndrome,Disorder,LD7Y,0015432,Q93.2,,C5201040,,,1325,Ring chromosome 12 syndrome,"Infancy, Neonatal",
1438,Ring chromosome 10 syndrome,Malformation syndrome,Disorder,LD7Y,0015431,Q93.2,,C0265438,C538086,,1322,Ring chromosome 10 syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
2615,Nakajo-Nishimura syndrome,Clinical subtype,Subtype of disorder,,,,,,,,3916,,,
624,Familial multiple nevi flammei,Morphological anomaly,Disorder,LC50,0008094,Q82.5,163000,C2931029,C535816,10067193,3986,Familial multiple nevi flammei,Neonatal,Autosomal dominant
2601,OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
3306,Inverted duplicated chromosome 15 syndrome,Malformation syndrome,Disorder,,0018027,Q99.8,,C3711376,C580205,10081682,5153,Inverted duplicated chromosome 15 syndrome,Neonatal,"Not applicable, Unknown"
3375,Trisomy X syndrome,Malformation syndrome,Disorder,LD50.1,0018066,Q97.0,,C0221033,C535318,10076910,5672,Trisomy X syndrome,"Childhood, Infancy",Not applicable
3310,Tetrasomy 9p syndrome,Malformation syndrome,Disorder,LD7Y,0018030,Q99.8,,C0795832,C538027,,42,Tetrasomy 9p syndrome,"Antenatal, Neonatal",
3000,Familial peripheral male-limited precocious puberty,Disease,Disorder,5A81.0,,E30.1,176410,C0342549,C536961,10063654,4475,Familial peripheral male-limited precocious puberty,Childhood,Autosomal dominant
680,Normokalemic periodic paralysis,Disease,Disorder,,,,170600,C0268445,,,,,,
3305,Tetraploidy syndrome,Malformation syndrome,Disorder,LD42.1,0018026,Q92.7,,C0333694,D057891,,5151,Tetraploidy syndrome,"Antenatal, Neonatal",
3176,Spina bifida-hypospadias syndrome,Malformation syndrome,Disorder,,0017857,Q05.9,,C4706660,,,4940,Spina bifida-hypospadias syndrome,"Antenatal, Infancy, Neonatal",
1708,Mosaic trisomy 16 syndrome,Malformation syndrome,Disorder,LD40.Y,0015729,Q92.1,,C4707009,,,,Mosaic trisomy 16 syndrome,"Antenatal, Neonatal",
1711,Mosaic trisomy 17 syndrome,Malformation syndrome,Disorder,LD40.Y,0015730,Q92.1,,C1096168,,,5317,Mosaic trisomy 17 syndrome,"Antenatal, Neonatal",
3376,Triploidy syndrome,Malformation syndrome,Disorder,LD42.0,0018067,Q92.7,,C0333693,D057885,,5295,Triploidy syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
1692,Mosaic trisomy 1 syndrome,Malformation syndrome,Disorder,LD40.Y,0015706,Q92.1,,C5394675,,,,Mosaic trisomy 1 syndrome,Neonatal,
1698,Mosaic trisomy 12 syndrome,Malformation syndrome,Disorder,LD40.Y,0015718,Q92.1,,C4706889,,,5304,Mosaic trisomy 12 syndrome,"Antenatal, Neonatal",
1706,Mosaic trisomy 15 syndrome,Malformation syndrome,Disorder,LD40.Y,0015727,Q92.1,,C2931707,C538037,,5313,Mosaic trisomy 15 syndrome,"Antenatal, Neonatal",
916,Aase-Smith syndrome type 1,Malformation syndrome,Disorder,,0007839,Q87.8,147800,C0220686,C535332,10063429,5642,Aase-Smith syndrome type 1,"Antenatal, Neonatal",Autosomal dominant
918,ABCD syndrome,Malformation syndrome,Disorder,,,,600501,C1838099,C535334,,,,,
920,Ablepharon macrostomia syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008693,Q87.0,200110,C1860224,C535557,10083860,3,Ablepharon macrostomia syndrome,"Antenatal, Neonatal",Autosomal dominant
1445,Ring chromosome 21 syndrome,Malformation syndrome,Disorder,LD7Y,0015437,Q93.2,,C0265487,C537109,,6083,Ring chromosome 21 syndrome,"Antenatal, Neonatal",
7,3C syndrome,Malformation syndrome,Disorder,,0019078,Q87.8,619435,C0796137,C535313,,5666,3C syndrome,"Antenatal, Infancy, Neonatal","Autosomal recessive, X-linked recessive"
931,Isolated acheiropodia,Morphological anomaly,Disorder,LB9B,0008700,Q74.8,200500,C5924998,C536014,,376,Isolated acheiropodia,"Antenatal, Neonatal",Autosomal recessive
929,Achalasia-microcephaly syndrome,Malformation syndrome,Disorder,,0008699,Q39.5,200450,C1860212,C536010,,456,Achalasia-microcephaly syndrome,Neonatal,Autosomal recessive
869,Triple A syndrome,Disease,Disorder,5A74.Y,0009279,E27.4,615510,C0271742,C536008,10073592,457,Triple A syndrome,All ages,Autosomal recessive
2297,Insulin-resistance syndrome type A,Disease,Disorder,5A44,0012520,E34.8,610549,C0342336,,,3008,Insulin-resistance syndrome type A,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive"
922,Familial nasal acilia,Disease,Disorder,LA75.Y,0019634,Q30.8,,C4706505,,,2254,Familial nasal acilia,Neonatal,
921,Abruzzo-Erickson syndrome,Malformation syndrome,Disorder,,0010554,Q87.8,302905,C1844862,C535559,,360,Abruzzo-Erickson syndrome,Antenatal,X-linked recessive
27,Vitamin B12-unresponsive methylmalonic acidemia,Disease,Disorder,5C50.E0,0009612,E71.1,251000,C2931536,C537573,,3586,Vitamin B12-unresponsive methylmalonic acidemia,"Childhood, Infancy, Neonatal",Autosomal recessive
939,3-hydroxyisobutyric aciduria,Disease,Disorder,5C50.E0,0009371,E71.1,236795,C0342737,C535312,,5662,3-hydroxyisobutyric aciduria,"Antenatal, Neonatal",
31,Oxoglutaric aciduria,Disease,Disorder,5C53.1,0008759,E88.8,203740,C2752074,C536582,,617,Oxoglutaric aciduria,Neonatal,Autosomal recessive
935,Short-limb skeletal dysplasia with severe combined immunodeficiency,Disease,Disorder,4A01.10,0008704,D82.2,200900,C1860168,C565984,,2988,Short-limb skeletal dysplasia with severe combined immunodeficiency,"Infancy, Neonatal",Not applicable
932,Achondrogenesis,Disease,Disorder,LD24.50,0019648,Q77.0,600972,C0001079,C579878,10066122,2882,Achondrogenesis,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
1795,OBSOLETE: Peripheral dysostosis,Malformation syndrome,Disorder,,,,,,,,,,,
37,Acrodermatitis enteropathica,Disease,Disorder,5C64.20,0008713,E83.2,201100,C0221036,C538178,10000596,5723,Acrodermatitis enteropathica,"Infancy, Neonatal",Autosomal recessive
950,Acrodysostosis,Malformation syndrome,Disorder,LD2F.16,0019797,Q75.4,614613,C0220659,C538179,10079856,5724,Acrodysostosis,"Antenatal, Neonatal",Autosomal dominant
949,Acrocraniofacial dysostosis,Malformation syndrome,Disorder,,0008712,Q87.0,201050,C1860145,C536892,,3075,Acrocraniofacial dysostosis,"Antenatal, Neonatal",Autosomal recessive
945,Acalvaria,Malformation syndrome,Disorder,LA00.0Y,0019795,Q00.0,,C2930936,C535570,,361,Acalvaria,"Antenatal, Neonatal",Not applicable
946,OBSOLETE: Acrocephalosyndactyly,Clinical group,Group of disorders,,,,,,,,,,,
957,Acropectorovertebral dysplasia,Malformation syndrome,Disorder,LD26.2,0007058,Q74.8,102510,C1863307,C566319,,512,Acropectorovertebral dysplasia,"Antenatal, Neonatal",Autosomal dominant
958,Acro-renal-mandibular syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008707,Q87.8,200980,C1860166,C535665,,480,Acro-renal-mandibular syndrome,"Antenatal, Neonatal",Autosomal recessive
955,Hajdu-Cheney syndrome,Malformation syndrome,Disorder,FB86.2,0007057,M89.5,102500,C0917715,D031845,,508,Hajdu-Cheney syndrome,"Childhood, Infancy",Autosomal dominant
956,Acropectororenal dysplasia,Malformation syndrome,Disorder,,,,,,,,,,,
953,"OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type",Malformation syndrome,Disorder,,,,,,,,,,,
952,"Acrofacial dysostosis, Weyers type",Malformation syndrome,Disorder,LD25.2,0008673,Q75.4,193530,C0457013,C536695,,497,"Acrofacial dysostosis, Weyers type",Neonatal,Autosomal dominant
1702,Non-distal duplication 13q syndrome,Malformation syndrome,Disorder,,0015724,Q92.3,,C4707260,,,,Non-distal duplication 13q syndrome,"Antenatal, Neonatal",
1703,Mosaic trisomy 14 syndrome,Malformation syndrome,Disorder,LD40.Y,0015725,Q92.1,,C2930917,C535489,,1327,Mosaic trisomy 14 syndrome,"Antenatal, Neonatal",
1705,Distal duplication 14q syndrome,Malformation syndrome,Disorder,,0015726,Q92.3,,C2931702,C538034,,,Distal duplication 14q syndrome,"Antenatal, Neonatal",
1713,17p11.2 microduplication syndrome,Malformation syndrome,Disorder,LD41.G1,0012574,Q92.3,610883,C2931246,C538355,,10145,17p11.2 microduplication syndrome,"Childhood, Infancy, Neonatal",Not applicable
1738,Trisomy 4p syndrome,Malformation syndrome,Disorder,LD41.31,0015767,Q92.2,,C0265405,C537643,10080079,6091,Trisomy 4p syndrome,"Antenatal, Infancy, Neonatal",
1739,OBSOLETE: Duplication 4q,Malformation syndrome,Disorder,,,,,,,,,,,
1742,Trisomy 5p syndrome,Malformation syndrome,Disorder,LD41.41,0015768,Q92.2,,C0812464,,,6093,Trisomy 5p syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
1745,Distal duplication 6p syndrome,Malformation syndrome,Disorder,LD41.51,0015769,Q92.3,,C4302551,,,,Distal duplication 6p syndrome,"Antenatal, Neonatal",
1752,Trisomy 8q syndrome,Malformation syndrome,Disorder,LD41.70,0015772,Q92.2,,C0795829,C538020,,5362,Trisomy 8q syndrome,Neonatal,Unknown
1762,Proximal Xq28 duplication syndrome,Malformation syndrome,Disorder,LD51,0010283,Q99.8,300260,C1846058,C537723,,9781,Proximal Xq28 duplication syndrome,"Antenatal, Neonatal",
1878,TRIM32-related limb-girdle muscular dystrophy R8,Disease,Disorder,8C70.41,0009683,G71.0,254110,C0270968,C535897,,3844,TRIM32-related limb-girdle muscular dystrophy R8,"Adolescent, Adult, Childhood",Autosomal recessive
1877,Muscular dystrophy-white matter spongiosis syndrome,Disease,Disorder,,,,,,,,,,,
1876,Oculogastrointestinal muscular dystrophy,Disease,Disorder,DA90.2,0010181,G71.0,277320,C1848586,C536350,,5496,Oculogastrointestinal muscular dystrophy,Childhood,Autosomal recessive
1948,Epilepsy-microcephaly-skeletal dysplasia syndrome,Malformation syndrome,Disorder,,0011048,Q87.8,601352,C2931579,C537662,,836,Epilepsy-microcephaly-skeletal dysplasia syndrome,Neonatal,Autosomal recessive
1946,Amelocerebrohypohidrotic syndrome,Malformation syndrome,Disorder,LD27.0Y,0009185,G40.8,226750,C0406740,C537213,,3128,Amelocerebrohypohidrotic syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
1981,Fanconi syndrome-ichthyosis-dysmorphism syndrome,Disease,Disorder,,,,,,,,,,,
1951,Epilepsy-telangiectasia syndrome,Disease,Disorder,,0009188,G40.8,226850,C4518554,C535497,,2168,Epilepsy-telangiectasia syndrome,Childhood,Autosomal recessive
381,Griscelli syndrome,Disease,Disorder,,0018306,E70.3,609227,C0398794,,10081517,10913,Griscelli syndrome,"Childhood, Infancy",Autosomal recessive
2604,Familial visceral myopathy,Disease,Disorder,DA90.2,0016829,K56.0,155310,C0266833,C562574,,3443,Familial visceral myopathy,All ages,Autosomal dominant
156,Carnitine palmitoyl transferase 1A deficiency,Disease,Disorder,5C52.00,0009705,E71.3,255120,C1829703,C535588,,1120,Carnitine palmitoyl transferase 1A deficiency,"Infancy, Neonatal",Autosomal recessive
2597,Mitochondrial myopathy-lactic acidosis-deafness syndrome,Disease,Disorder,,0016825,G71.3,251950,C4518539,C537476,,3682,Mitochondrial myopathy-lactic acidosis-deafness syndrome,Childhood,No data available
2598,Mitochondrial myopathy and sideroblastic anemia,Disease,Disorder,3A72.0Y,0000863,G71.3,613561,C1838103,C536101,,3885,Mitochondrial myopathy and sideroblastic anemia,"Adolescent, Childhood, Infancy",Autosomal recessive
1088,OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1078,Thumb stiffness-brachydactyly-intellectual disability syndrome,Malformation syndrome,Disorder,,0008563,Q87.2,188201,C2931515,C537511,,4375,Thumb stiffness-brachydactyly-intellectual disability syndrome,"Infancy, Neonatal",Autosomal dominant
1077,Dental ankylosis,Malformation syndrome,Disorder,DA07.61,0008007,K03.5,,C0155930,D020254,10044019,701,Dental ankylosis,"Adolescent, Adult, Childhood, Elderly",
1074,Ankyloblepharon filiforme adnatum-imperforate anus syndrome,Clinical subtype,Subtype of disorder,LD27.0Y,0015201,Q87.8,,C4751231,,,697,Ankyloblepharon filiforme adnatum-imperforate anus syndrome,Neonatal,Unknown
1072,Ankyloblepharon filiforme adnatum-cleft palate syndrome,Clinical subtype,Subtype of disorder,LD2F.1Y,0007123,Q87.0,106250,C1862866,,,696,Ankyloblepharon filiforme adnatum-cleft palate syndrome,Neonatal,Autosomal dominant
1071,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,Malformation syndrome,Disorder,LD27.0Y,0007124,Q82.4,106260,C0406709,C535847,,6571,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,Neonatal,Autosomal dominant
1069,Aniridia-absent patella syndrome,Malformation syndrome,Disorder,,0007120,Q87.8,106220,C1862868,C566281,,685,Aniridia-absent patella syndrome,"Antenatal, Neonatal",Autosomal dominant
1068,Aniridia-intellectual disability syndrome,Malformation syndrome,Disorder,,0015199,Q13.1,,C2931243,C536568,,5530,Aniridia-intellectual disability syndrome,Childhood,Autosomal dominant
1067,Aniridia-ptosis-intellectual disability-familial obesity syndrome,Malformation syndrome,Disorder,,0015198,Q13.1,,C4303736,,,689,Aniridia-ptosis-intellectual disability-familial obesity syndrome,Childhood,Autosomal dominant
1064,Aniridia-renal agenesis-psychomotor retardation syndrome,Malformation syndrome,Disorder,,0008796,Q87.8,206750,C4518585,C536371,,690,Aniridia-renal agenesis-psychomotor retardation syndrome,Neonatal,Autosomal recessive
1062,Hereditary neurocutaneous malformation,Disease,Disorder,LD2D.Y,0007116,D18.0,106070,C1275084,C536364,,676,Hereditary neurocutaneous malformation,"Childhood, Infancy",Autosomal dominant
1060,Systemic cystic angiomatosis-Seip syndrome,Disease,Disorder,,,,,,,,,,,
138221,OBSOLETE: Rare sucking/swallowing disorder,Category,Group of disorders,,,,,,,,,,,
1057,OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
138118,OBSOLETE: Acquired alimentary behavior disorder of infancy,Category,Group of disorders,,,,,,,,,,,
1053,Vein of Galen malformation,Morphological anomaly,Disorder,LA90.20,0015196,Q28.2,,C0431420,C536535,10077889,5467,Vein of Galen malformation,"Antenatal, Infancy, Neonatal",Not applicable
138115,OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease,Category,Group of disorders,,,,,,,,,,,
138112,OBSOLETE: Sucking/swallowing disorder associated with cerebellar anomalies,Category,Group of disorders,,,,,,,,,,,
1055,Congenital left ventricular aneurysm,Malformation syndrome,Disorder,LA88.Y,0021690,Q24.8,,C0344915,,,2305,Congenital left ventricular aneurysm,"Antenatal, Neonatal",
138109,OBSOLETE: Sucking/swallowing disorder associated with posterior fossa anomalies,Category,Group of disorders,,,,,,,,,,,
138104,OBSOLETE: Sucking/swallowing disorder associated with basal ganglia anomalies,Category,Group of disorders,,,,,,,,,,,
1052,Mosaic variegated aneuploidy syndrome,Malformation syndrome,Disorder,LD7Y,0000141,Q99.8,617598,C4551972,C536682,,3007,Mosaic variegated aneuploidy syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
138101,OBSOLETE: Sucking/swallowing disorder associated with suprabulbar anomalies,Category,Group of disorders,,,,,,,,,,,
138095,OBSOLETE: Sucking/swallowing disorder associated with neurologic anomalies,Category,Group of disorders,,,,,,,,,,,
138084,OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation,Category,Group of disorders,,,,,,,,,,,
1040,Metaphyseal anadysplasia,Disease,Disorder,LD24.7,0015177,Q78.5,613073,C0432226,C537351,,3562,Metaphyseal anadysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
138080,OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome,Category,Group of disorders,,,,,,,,,,,
1041,Hydrops fetalis,Malformation syndrome,Disorder,KA85.Y,0015193,P56.9,236750,C0020305,D015160,10020529,2783,Hydrops fetalis,Antenatal,Not applicable
138076,OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly,Category,Group of disorders,,,,,,,,,,,
1037,Arthrogryposis multiplex congenita,Clinical group,Group of disorders,,0015168,Q74.3,,C5779613,,10051643,777,Arthrogryposis multiplex congenita,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
138072,OBSOLETE: Sucking/swallowing disorder associated with an identified syndrome,Category,Group of disorders,,,,,,,,,,,
1126,Aprosencephaly cerebellar dysgenesis,Malformation syndrome,Disorder,LA05.Y,0011062,Q04.3,601374,C1832412,C563331,,,Aprosencephaly cerebellar dysgenesis,Antenatal,
1125,"Ocular motor apraxia, Cogan type",Disease,Disorder,9C82.4,0009764,H51.8,257550,C0543874,C537423,,16,"Ocular motor apraxia, Cogan type",Childhood,Autosomal recessive
1121,Radial deficiency-tibial hypoplasia syndrome,Malformation syndrome,Disorder,,0015232,Q73.8,,C5190823,,,,Radial deficiency-tibial hypoplasia syndrome,Antenatal,
1120,Lung agenesis-heart defect-thumb anomalies syndrome,Malformation syndrome,Disorder,,0011116,Q87.8,601612,C4302918,,,3378,Lung agenesis-heart defect-thumb anomalies syndrome,Antenatal,
1122,Ulnar hypoplasia-split foot syndrome,Malformation syndrome,Disorder,,0010750,Q73.8,314360,C4518553,C536936,,5400,Ulnar hypoplasia-split foot syndrome,Neonatal,
1116,Aplasia cutis congenita-intestinal lymphangiectasia syndrome,Disease,Disorder,LD27.Y,0008808,Q84.8,207731,C4304031,C537788,,753,Aplasia cutis congenita-intestinal lymphangiectasia syndrome,Neonatal,Autosomal recessive
1115,OBSOLETE: Recessive aplasia cutis congenita of limbs,Disease,Disorder,,,,,,,,,,,
1118,Fibular aplasia-ectrodactyly syndrome,Malformation syndrome,Disorder,LD26.0,0007225,Q73.8,113310,C4303759,C537930,,2331,Fibular aplasia-ectrodactyly syndrome,Neonatal,Autosomal dominant
1117,Aplasia cutis-myopia syndrome,Disease,Disorder,LD27.Y,0010988,Q84.8,601075,C4304032,,,756,Aplasia cutis-myopia syndrome,Neonatal,Autosomal recessive
1110,Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,,0007143,Q87.8,107500,C4706520,C537785,,739,Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,"Infancy, Neonatal",Autosomal dominant
1113,Aphalangy-syndactyly-microcephaly syndrome,Malformation syndrome,Disorder,,0010882,Q87.2,600384,C4304033,,,748,Aphalangy-syndactyly-microcephaly syndrome,"Antenatal, Neonatal",Autosomal dominant
1112,Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,Malformation syndrome,Disorder,,0008806,Q87.8,207620,C1859754,C535881,,3051,Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,Neonatal,Autosomal recessive
1106,Microphthalmia with limb anomalies,Malformation syndrome,Disorder,LD21.0,0008800,Q87.2,206920,C0599973,C537769,,722,Microphthalmia with limb anomalies,"Antenatal, Neonatal",Autosomal recessive
83,Antley-Bixler syndrome,Malformation syndrome,Disorder,LD24.GY,0008803,Q87.8,207410,C5234850,D054882,10083864,5826,Antley-Bixler syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
1102,Anophthalmia-hypothalamo-pituitary insufficiency syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1104,Anophthalmia plus syndrome,Malformation syndrome,Disorder,LD21.0,0010930,Q87.8,600776,C1833339,C537767,,719,Anophthalmia plus syndrome,"Antenatal, Neonatal",Autosomal recessive
1094,Anonychia-microcephaly syndrome,Malformation syndrome,Disorder,,0011795,Q87.8,607214,C2931373,C536948,,,Anonychia-microcephaly syndrome,Neonatal,Autosomal recessive
1092,Renal-genital-middle ear anomalies,Malformation syndrome,Disorder,,,,267400,C1849432,,,,,,
991,PAGOD syndrome,Malformation syndrome,Disorder,,0008741,Q87.8,202660,C1859967,,,3086,PAGOD syndrome,Neonatal,Not applicable
139039,Orofacial clefting syndrome,Category,Group of disorders,,,,,C5680616,,,19908,,,
990,Agnathia-holoprosencephaly-situs inversus syndrome,Malformation syndrome,Disorder,,0008740,Q87.8,202650,C4302678,,,9126,Agnathia-holoprosencephaly-situs inversus syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
989,Hypoglossia-hypodactyly syndrome,Malformation syndrome,Disorder,LD25.0Y,0007073,Q87.2,103300,C0595985,C535629,,68,Hypoglossia-hypodactyly syndrome,"Antenatal, Neonatal",Unknown
139042,Malformation syndrome with odontal and/or periodontal component,Category,Group of disorders,,,,,C5680617,,,19909,,,
994,Fetal akinesia deformation sequence,Malformation syndrome,Disorder,LD2F.1Y,,Q87.8,618389,C1276035,C536647,,9634,Fetal akinesia deformation sequence,"Antenatal, Neonatal",Autosomal recessive
51,Aicardi-Goutières syndrome,Disease,Disorder,5C55.2,0018866,G31.8,619487,C0393591,C535607,10083189,575,Aicardi-Goutières syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
139021,Malformation syndrome with short stature,Category,Group of disorders,,,,,C5680618,,,19902,,,
981,Internal carotid absence,Morphological anomaly,Disorder,LA90.4Y,0020048,Q28.1,,C4302907,,,3012,Internal carotid absence,All ages,Not applicable
139024,Overgrowth/obesity syndrome,Category,Group of disorders,,,,,C5680619,,,19903,,,
139015,OBSOLETE: Chondrodysplastic malformation syndrome,Category,Group of disorders,,,,,,,,,,,
978,ADULT syndrome,Malformation syndrome,Disorder,LD27.0Y,0007072,Q87.2,103285,C1863204,C538052,,384,ADULT syndrome,"Antenatal, Neonatal",Autosomal dominant
139018,OBSOLETE: Non-chondrodysplastic malformation syndrome affecting bones,Category,Group of disorders,,,,,,,,,,,
977,Adrenomyodystrophy,Disease,Disorder,5A74.Y,0010288,E27.4,300270,C1846044,C538051,,562,Adrenomyodystrophy,"Infancy, Neonatal",Unknown
988,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,Malformation syndrome,Disorder,,8572,Q87.2,190605,C4707180,C535564,,8309,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
139033,Progeroid syndrome,Category,Group of disorders,LD2B,0015333,,,C5848146,,,19906,,,
139036,Branchial arch or oral-acral syndrome,Category,Group of disorders,,,,,C5680620,,,19907,,,
139027,Rare developmental defect with skin/mucosae involvement,Category,Group of disorders,,,,,C5680621,,,19904,,,
983,Testicular regression syndrome,Morphological anomaly,Disorder,LD2A.Y,,Q55.0,273250,C0266427,,,,Testicular regression syndrome,Neonatal,Autosomal recessive
139030,Rare developmental defect with connective tissue involvement,Category,Group of disorders,,,,,C5680622,,,19905,,,
970,Hereditary sensory and autonomic neuropathy type 2,Disease,Disorder,8C21.Y,0019941,G60.8,614213,C0020072,,,3976,Hereditary sensory and autonomic neuropathy type 2,"Infancy, Neonatal",Autosomal recessive
971,Acrorenal syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007059,Q87.2,201310,C3495490,C563159,,514,Acrorenal syndrome,Neonatal,Autosomal recessive
40,"Acromesomelic dysplasia, Maroteaux type",Malformation syndrome,Disorder,LD24.9,0011275,Q77.8,602875,C1864356,C535661,,507,"Acromesomelic dysplasia, Maroteaux type","Infancy, Neonatal",Autosomal recessive
969,Acromicric dysplasia,Malformation syndrome,Disorder,LD24.8Y,0007055,Q77.8,102370,C0265287,C535662,10083854,7,Acromicric dysplasia,Neonatal,Autosomal dominant
139012,Rare bone development disorder,Category,Group of disorders,,,,,C5679598,,,19901,,,
974,Adams-Oliver syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007034,Q87.2,616589,C0265268,C538225,10079369,5739,Adams-Oliver syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
139009,Developmental anomaly of metabolic origin,Category,Group of disorders,,0015327,,,C5680623,,,19900,,,
139006,OBSOLETE: Sequence or association,Category,Group of disorders,,,,,,,,,,,
972,Hereditary continuous muscle fiber activity,Disease,Disorder,8C7Y,0019943,G71.1,160120,C1834559,C563545,,1512,Hereditary continuous muscle fiber activity,"Childhood, Infancy",Autosomal dominant
973,"Isolated absence/hypoplasia of fingers excluding thumb, unilateral",Morphological anomaly,Disorder,LB99.7,7062,Q71.3,102650,C5924999,C562417,,377,"Isolated absence/hypoplasia of fingers excluding thumb, unilateral","Antenatal, Neonatal","Autosomal dominant, Not applicable"
964,Acromegaly-cutis verticis gyrata-corneal leukoma syndrome,Malformation syndrome,Disorder,,,,102100,,,,,,,
959,Acro-renal-ocular syndrome,Malformation syndrome,Disorder,,,Q87.8,607323,C5848304,,,,Acro-renal-ocular syndrome,"Antenatal, Neonatal",Autosomal dominant
968,"Acromesomelic dysplasia, Hunter-Thompson type",Malformation syndrome,Disorder,LD24.9,0008717,Q78.8,201250,C2930970,,,506,"Acromesomelic dysplasia, Hunter-Thompson type","Antenatal, Neonatal",Autosomal recessive
965,Acromegaloid facial appearance syndrome,Malformation syndrome,Disorder,,,,102150,C0796280,C535655,,501,,,
966,Hypertrichosis-acromegaloid facial appearance syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
139411,Carney triad,Disease,Disorder,2F7A.0,0011424,D44.8,604287,C1858592,C565803,,10924,Carney triad,"Adolescent, Adult",
139414,Congenital panfollicular nevus,Disease,Disorder,,0015341,I78.1,,C4476799,,,19912,Congenital panfollicular nevus,"Infancy, Neonatal",
1028,Amelo-onycho-hypohidrotic syndrome,Malformation syndrome,Disorder,LD27.0Y,0007095,Q82.4,104570,C1863006,C538245,,647,Amelo-onycho-hypohidrotic syndrome,No data available,
139417,Acute transverse myelitis,Disease,Disorder,8A41.0,0015342,G37.3,,C0270627,,,19913,Acute transverse myelitis,"Adolescent, Adult, Childhood, Elderly, Infancy",
1031,Enamel-renal syndrome,Malformation syndrome,Disorder,LA30.6,0008771,K00.5,204690,C2931783,C538241,,646,Enamel-renal syndrome,Childhood,Autosomal recessive
139420,OBSOLETE: Secondary acute transverse myelitis,Clinical subtype,Subtype of disorder,,,,,,,,,,,
1034,OBSOLETE: Amniotic bands,Category,Group of disorders,,,,,,,,,,,
139423,Idiopathic acute transverse myelitis,Clinical subtype,Subtype of disorder,8A41.0,0015344,G37.3,,C1719404,,,,Idiopathic acute transverse myelitis,All ages,Not applicable
139426,Perioral myoclonia with absences,Disease,Disorder,8A61.2Y,0015345,G40.4,,C4707846,,,,Perioral myoclonia with absences,Childhood,
139431,Epilepsy with eyelid myoclonia,Disease,Disorder,8A61.2Y,0015346,G40.3,,C4274731,,10084303,19916,Epilepsy with eyelid myoclonia,Childhood,Unknown
1035,Beta-mercaptolactate cysteine disulfiduria,Biological anomaly,Disorder,,0009585,E72.1,249650,C0796055,,,654,Beta-mercaptolactate cysteine disulfiduria,No data available,
139436,Multicentric reticulohistiocytosis,Disease,Disorder,EE8Y,0015347,D76.3,,C0311284,,10070595,7103,Multicentric reticulohistiocytosis,Adult,Not applicable
139373,OBSOLETE: Recessive hereditary methemoglobinemia type 1,Clinical subtype,Subtype of disorder,,,,,,,,,,,
1021,Amaurosis-hypertrichosis syndrome,Disease,Disorder,9B70,0008766,H35.5,204110,C4303739,C536604,,637,Amaurosis-hypertrichosis syndrome,Neonatal,Autosomal recessive
139380,OBSOLETE: Recessive hereditary methemoglobinemia type 2,Clinical subtype,Subtype of disorder,,,,,,,,,,,
64,Alström syndrome,Disease,Disorder,LD2H.Y,0008763,E34.8,203800,C0268425,D056769,10068783,5787,Alström syndrome,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
1023,"Congenital generalized hypertrichosis, Ambras type",Clinical subtype,Subtype of disorder,LD27.0Y,0007787,Q84.2,145701,C1840362,C536605,,8206,"Congenital generalized hypertrichosis, Ambras type",Neonatal,Unknown
139390,Non-syndromic craniosynostosis,Clinical group,Group of disorders,,0015337,,,C5848302,,,19910,Non-syndromic craniosynostosis,"Infancy, Neonatal",
139393,Syndromic craniosynostosis,Category,Group of disorders,,0015338,,,C5680624,,,19911,,,
139396,X-linked cerebral adrenoleukodystrophy,Clinical subtype,Subtype of disorder,5C57.1,0010247,E71.3,300100,C2026514,,,9412,X-linked cerebral adrenoleukodystrophy,All ages,X-linked recessive
139399,Adrenomyeloneuropathy,Clinical subtype,Subtype of disorder,5C57.1,0015339,E71.3,300100,C1527231,,,10614,Adrenomyeloneuropathy,Adult,X-linked recessive
1027,Autosomal recessive amelia,Malformation syndrome,Disorder,,0011054,,601360,C1832432,C563338,,,,,
139402,Drug reaction with eosinophilia and systemic symptoms,Disease,Disorder,EH65,0015340,T78.4,,C3541994,,10073508,13629,Drug reaction with eosinophilia and systemic symptoms,All ages,Not applicable
139406,Encephalopathy due to prosaposin deficiency,Disease,Disorder,5C56.0Y,0012719,E75.2,611721,C4303785,,,,Encephalopathy due to prosaposin deficiency,"Infancy, Neonatal",Autosomal recessive
1008,Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,Disease,Disorder,LD90.Y,0007085,Q87.8,104130,C1863090,C537057,,607,Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,Neonatal,Autosomal dominant
701,Alopecia universalis,Disease,Disorder,ED70.2Y,,L63.1,610753,C0263505,C537055,10001767,614,Alopecia universalis,All ages,"Autosomal recessive, Multigenic/multifactorial"
1010,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Disease,Disorder,LD27.0Y,0007083,Q82.8,104100,C4304669,,,604,Autosomal dominant palmoplantar keratoderma and congenital alopecia,"Infancy, Neonatal",Autosomal dominant
1011,Alopecia-hypogonadism-extrapyramidal syndrome,Disease,Disorder,,,,,C2931406,C537053,,,,,
1014,Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,Disease,Disorder,,0011019,Q87.8,601217,C4303740,,,,Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,Neonatal,Unknown
1001,2q37 microdeletion syndrome,Malformation syndrome,Disorder,LD44.20,0010886,Q93.5,600430,C2931817,C538317,,10202,2q37 microdeletion syndrome,Neonatal,"Autosomal dominant, Not applicable"
665,Albright hereditary osteodystrophy,Disease,Disorder,,,,,C2931404,,,,,,
59,Allan-Herndon-Dudley syndrome,Disease,Disorder,5A00.0Y,0010354,G31.8,300523,C0795889,C537047,10078821,5617,Allan-Herndon-Dudley syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
1003,Scalp defects-postaxial polydactyly syndrome,Malformation syndrome,Disorder,,0008403,Q87.2,181250,C4511971,C536622,,241,Scalp defects-postaxial polydactyly syndrome,Neonatal,Autosomal dominant
1005,Alopecia-contractures-dwarfism-intellectual disability syndrome,Malformation syndrome,Disorder,LD27.0Y,0008754,Q87.8,203550,C4303742,C537051,,605,Alopecia-contractures-dwarfism-intellectual disability syndrome,"Antenatal, Neonatal",Autosomal recessive
1253,Ascher syndrome,Malformation syndrome,Disorder,LD27.Y,0007198,Q87.0,109900,C0339085,C562742,,201,Ascher syndrome,Neonatal,Not applicable
1251,Blepharofacioskeletal syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1252,Blepharonasofacial malformation syndrome,Malformation syndrome,Disorder,,0007200,Q87.0,110050,C0796197,C536303,,4238,Blepharonasofacial malformation syndrome,Childhood,"Autosomal dominant, X-linked dominant"
1248,Maxillonasal dysplasia,Malformation syndrome,Disorder,LD2H.Y,0007953,Q75.8,155050,C0220692,C536036,10075843,6992,Maxillonasal dysplasia,Neonatal,"Autosomal dominant, Autosomal recessive, Multigenic/multifactorial"
1250,OBSOLETE: Blaichman syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
127,Borjeson-Forssman-Lehmann syndrome,Malformation syndrome,Disorder,LD29,0010537,Q87.8,301900,C0265339,C536575,,936,Borjeson-Forssman-Lehmann syndrome,Neonatal,X-linked recessive
1264,Tricho-retino-dento-digital syndrome,Malformation syndrome,Disorder,LD27.0Y,0008622,Q82.4,191482,C1860605,C536576,,938,Tricho-retino-dento-digital syndrome,Neonatal,Autosomal dominant
1262,Böök syndrome,Malformation syndrome,Disorder,LD27.0Y,0007207,Q82.8,112300,C0457014,C562993,,932,Böök syndrome,Adult,Autosomal dominant
1263,Boomerang dysplasia,Disease,Disorder,LD24.E,0007208,Q87.1,112310,C0432201,C536573,,933,Boomerang dysplasia,"Antenatal, Neonatal",Not applicable
1259,Blepharoptosis-myopia-ectopia lentis syndrome,Disease,Disorder,LA14.0Y,0007202,Q15.8,110150,C4303549,C536236,,912,Blepharoptosis-myopia-ectopia lentis syndrome,Childhood,Autosomal dominant
1261,Bonnemann-Meinecke-Reich syndrome,Malformation syndrome,Disorder,,0009167,Q04.8,225755,C4518560,,,2113,Bonnemann-Meinecke-Reich syndrome,"Infancy, Neonatal",Autosomal recessive
1256,OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1235,OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome,Disease,Disorder,,,,,,,,,,,
1234,Bartsocas-Papas syndrome,Malformation syndrome,Disorder,LD26.4Y,,Q87.2,619339,C1849718,C564874,,4436,Bartsocas-Papas syndrome,"Antenatal, Neonatal",Autosomal recessive
1231,Barber-Say syndrome,Malformation syndrome,Disorder,LD27.3,0008853,Q87.0,209885,C1319466,C537908,,819,Barber-Say syndrome,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable"
1229,Pseudo-TORCH syndrome type 1,Malformation syndrome,Disorder,LD20.2,0009626,Q87.8,251290,C2931662,C537905,,12426,Pseudo-TORCH syndrome type 1,"Antenatal, Neonatal",Autosomal recessive
109,Bannayan-Riley-Ruvalcaba syndrome,Clinical subtype,Subtype of disorder,LD2D.Y,0007924,Q87.8,158350,C0265326,,10080314,5887,Bannayan-Riley-Ruvalcaba syndrome,"Infancy, Neonatal",Autosomal dominant
1228,Banki syndrome,Malformation syndrome,Disorder,,0007185,Q68.1,109300,C1862319,C566228,,813,Banki syndrome,Neonatal,Autosomal dominant
1241,Bencze syndrome,Malformation syndrome,Disorder,,0007711,Q67.4,141350,C1841640,C564199,,2633,Bencze syndrome,Childhood,Autosomal dominant
1240,Metaphyseal acroscyphodysplasia,Disease,Disorder,,0009592,,250215,C1855243,C537350,,3519,,,
1239,Behr syndrome,Malformation syndrome,Disorder,,8858,H47.2,210000,C0221061,,,,Behr syndrome,,Autosomal recessive
1237,Beemer-Ertbruggen syndrome,Malformation syndrome,Disorder,,0008857,Q87.8,209970,C1859526,C537668,,846,Beemer-Ertbruggen syndrome,Neonatal,Autosomal recessive
114,Auriculoosteodysplasia,Malformation syndrome,Disorder,LD24.E,0007177,Q87.5,109000,C1862381,C538271,,8663,Auriculoosteodysplasia,Neonatal,Autosomal dominant
115,Congenital contractural arachnodactyly,Malformation syndrome,Disorder,LD28.00,0007363,Q68.8,121050,C0220668,C536211,,5899,Congenital contractural arachnodactyly,Neonatal,Autosomal dominant
1236,Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,Malformation syndrome,Disorder,,0015252,Q87.8,,C5190778,,,3482,Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,Neonatal,No data available
137622,Intractable diarrhea-choanal atresia-eye anomalies syndrome,Malformation syndrome,Disorder,DA90.Y,0015295,Q87.8,,C4304307,,,19882,Intractable diarrhea-choanal atresia-eye anomalies syndrome,"Infancy, Neonatal",
137617,Nephrogenic systemic fibrosis,Disease,Disorder,FB51.Y,0015294,L98.8,,C3888044,,10067467,9725,,,
1292,Brachymorphism-onychodysplasia-dysphalangism syndrome,Malformation syndrome,Disorder,,0007230,Q87.1,113477,C1862082,C536242,,918,Brachymorphism-onychodysplasia-dysphalangism syndrome,Neonatal,Autosomal dominant
137628,Cardiac anomalies-heterotaxy syndrome,Malformation syndrome,Disorder,LA8Y,0015296,Q28.8,,C4303970,,,,Cardiac anomalies-heterotaxy syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
1293,Brachyolmia,Clinical group,Group of disorders,,0015262,,,C0432228,C537098,10081832,10903,Brachyolmia,Childhood,"Autosomal dominant, Autosomal recessive"
137625,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,Disease,Disorder,5C51.3,0012693,E74.0,611556,C4510752,,,10760,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,Childhood,Autosomal recessive
137608,Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,Clinical subtype,Subtype of disorder,LD2D.Y,0015293,Q87.3,,C4706610,,,,Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,Neonatal,Not applicable
137658,Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome,Malformation syndrome,Disorder,,,,615236,,,,,,,
1299,Branchioskeletogenital syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008885,Q87.8,211380,C0809936,C537084,,955,Branchioskeletogenital syndrome,Neonatal,"Autosomal recessive, X-linked dominant"
137653,Microcephaly-digital anomalies-intellectual disability syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
137672,Pellucid marginal degeneration,Disease,Disorder,9A78.4,0015298,H18.7,,C0339288,,,11895,,,
1300,Autosomal dominant popliteal pterygium syndrome,Malformation syndrome,Disorder,LD26.4Y,0007334,Q87.2,119500,C5848052,,,,Autosomal dominant popliteal pterygium syndrome,"Antenatal, Neonatal",Autosomal dominant
137667,Capillary malformation-arteriovenous malformation,Clinical group,Group of disorders,LA90.3Y,0012016,Q27.3,618196,C1842180,C564254,,11904,Capillary malformation-arteriovenous malformation,"Infancy, Neonatal","Autosomal dominant, Not applicable"
1301,Bronchiectasis-oligospermia syndrome,Disease,Disorder,,,,,,,,,,,
137634,Overgrowth-macrocephaly-facial dysmorphism syndrome,Malformation syndrome,Disorder,LD2C,,Q87.3,,C4302813,,,,Overgrowth-macrocephaly-facial dysmorphism syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
1295,Brachytelephalangy-dysmorphism-Kallmann syndrome,Malformation syndrome,Disorder,,0007231,Q87.0,113480,C4303989,,,,Brachytelephalangy-dysmorphism-Kallmann syndrome,Neonatal,Autosomal dominant
137631,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",Disease,Disorder,4A00.2,0012757,D82.8,611926,C4302919,,,,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",Infancy,
1296,Lambert syndrome,Malformation syndrome,Disorder,,0009507,Q87.8,245550,C1855551,C538396,,3169,Lambert syndrome,Neonatal,Unknown
1297,Branchio-oculo-facial syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007235,Q18.8,113620,C0376524,,,3212,Branchio-oculo-facial syndrome,"Antenatal, Neonatal",Autosomal dominant
137639,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,Clinical subtype,Subtype of disorder,,0011897,E75.2,607694,C4706676,,,,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,"Infancy, Neonatal",Autosomal recessive
137577,Neonatal hypoxic and ischemic brain injury,Particular clinical situation in a disease or syndrome,Disorder,KB04,,P91.6,,C5575064,,,19875,Neonatal hypoxic and ischemic brain injury,"Infancy, Neonatal",Not applicable
137583,Vulvar intraepithelial neoplasia,Disease,Disorder,2E67.12,0005198,D07.1,,C0346210,,,,Vulvar intraepithelial neoplasia,"Adult, Elderly",Not applicable
1276,Brachydactyly-arterial hypertension syndrome,Malformation syndrome,Disorder,LD24.8Y,0007211,Q73.8,112410,C1862170,C537095,,967,Brachydactyly-arterial hypertension syndrome,Neonatal,Autosomal dominant
1275,Brachydactyly-elbow wrist dysplasia syndrome,Malformation syndrome,Disorder,LD26.1,0008520,Q73.8,186550,C1861313,C566090,,966,Brachydactyly-elbow wrist dysplasia syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
137586,OBSOLETE: Herpes simplex virus keratitis,Category,Group of disorders,,,,,,,,,,,
1266,"Dermato-cardio-skeletal syndrome, Borrone type",Malformation syndrome,Disorder,,,,,,,,,,,
1271,Bowen syndrome,Disease,Disorder,,,,211200,C1859404,,,,,,
1270,Bowen-Conradi syndrome,Malformation syndrome,Disorder,LD20.2,0008879,Q87.8,211180,C1859405,C537081,,5950,Bowen-Conradi syndrome,"Antenatal, Neonatal",Autosomal recessive
137605,Legius syndrome,Malformation syndrome,Disorder,LD27.5,0012669,Q85.0,611431,C1969623,C548032,,10714,Legius syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
137593,Infectious epithelial keratitis,Disease,Disorder,1F00.10,0015289,H16.8,,C4749790,,,,,,
137596,Neurotrophic keratopathy,Disease,Disorder,1F00.10,0015290,H16.2,,C0339296,,10069732,,Neurotrophic keratopathy,"Adult, Childhood",Not applicable
1278,Brachydactyly-preaxial hallux varus syndrome,Malformation syndrome,Disorder,,0007214,Q73.8,112450,C4518542,,,972,Brachydactyly-preaxial hallux varus syndrome,Neonatal,Autosomal dominant
137599,Herpes simplex virus stromal keratitis,Disease,Disorder,1F00.10,0015291,H16.3,,C1301533,,,19879,Herpes simplex virus stromal keratitis,All ages,Not applicable
137602,Corneal endotheliitis,Disease,Disorder,9A70.0,,H16.8,,C0423262,,10062621,19880,,,
1166,Congenital unilateral hypoplasia of depressor anguli oris,Morphological anomaly,Disorder,,0007443,Q87.0,,C0431406,C535349,,,Congenital unilateral hypoplasia of depressor anguli oris,Neonatal,Autosomal dominant
1168,Ataxia-oculomotor apraxia type 1,Disease,Disorder,5C53.22,0008842,G11.3,208920,C1859598,C538013,,9283,Ataxia-oculomotor apraxia type 1,Childhood,Autosomal recessive
137820,Extrapelvic endometriosis,Disease,Disorder,GA10.C0,,N80.9,,C0404545,,,,,,
1160,Chylous ascites,Disease,Disorder,DC51.0,0008829,I89.8,208300,C0008732,D002915,10003446,1359,Chylous ascites,All ages,
137817,Arachnoiditis,Disease,Disorder,8E40.3,0015304,G03.9,182950,C0003708,D001100,10003074,5839,Arachnoiditis,All ages,Not applicable
137814,Macular amyloidosis,Disease,Disorder,5D00.0,0015303,L99.0*,,C0544839,,,19885,,,
1174,Cerebellar ataxia-ectodermal dysplasia syndrome,Malformation syndrome,Disorder,LD27.0Y,0008934,G11.1,212835,C1859306,C535350,,1189,Cerebellar ataxia-ectodermal dysplasia syndrome,Neonatal,Autosomal recessive
137839,Lemierre syndrome,Disease,Disorder,1C4Y,0015306,I80.8,,C0343525,D057831,10065552,6882,Lemierre syndrome,Adolescent,
137834,Frank-Ter Haar syndrome,Disease,Disorder,LD25.1,0009579,Q87.8,249420,C1855305,C537274,,5138,Frank-Ter Haar syndrome,"Antenatal, Neonatal",Autosomal recessive
137831,X-linked intellectual disability-cerebellar hypoplasia syndrome,Disease,Disorder,LD90,0010337,Q04.3,300486,C4304937,,,,X-linked intellectual disability-cerebellar hypoplasia syndrome,"Infancy, Neonatal",X-linked dominant
1170,Autosomal recessive cerebelloparenchymal disorder type 3,Disease,Disorder,,0008943,G11.0,213200,C1859298,C565865,,1199,Autosomal recessive cerebelloparenchymal disorder type 3,"Adolescent, Childhood, Infancy",Autosomal recessive
137862,Martínez-Frías syndrome,Malformation syndrome,Disorder,,,,601346,C1832443,,,,,,
1178,Ataxia-tapetoretinal degeneration syndrome,Disease,Disorder,,0010095,G11.1,272600,C5190865,,,,Ataxia-tapetoretinal degeneration syndrome,"Adolescent, Childhood, Infancy",Unknown
1175,X-linked progressive cerebellar ataxia,Disease,Disorder,8A03.1Y,0010547,G11.1,302800,C5231313,,,,X-linked progressive cerebellar ataxia,Childhood,X-linked recessive
1180,Ataxia-hypogonadism-choroidal dystrophy syndrome,Disease,Disorder,,0008980,G11.8,215470,C1859093,C565850,,944,Ataxia-hypogonadism-choroidal dystrophy syndrome,Childhood,Autosomal recessive
137871,OBSOLETE: Laminopathy type Decaudain-Vigouroux,Disease,Disorder,,,,,,,,,,,
1179,Benign paroxysmal tonic upgaze of childhood with ataxia,Disease,Disorder,9C83.11,0008206,G96.8,168885,C1868576,C566817,,4176,Benign paroxysmal tonic upgaze of childhood with ataxia,"Infancy, Neonatal",
1173,Cerebellar ataxia-hypogonadism syndrome,Disease,Disorder,,0008935,G11.8,605672,C1859305,C565870,,3314,Cerebellar ataxia-hypogonadism syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
137867,Madras motor neuron disease,Disease,Disorder,8B60.7,0015307,G12.2,,C0393551,,,,Madras motor neuron disease,"Adolescent, Adult, Childhood","Not applicable, X-linked recessive"
1139,OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome,Disease,Disorder,,,,,,,,,,,
137681,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,Disease,Disorder,5C53.23,0012191,E88.8,609060,C4707239,,,,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,Neonatal,Autosomal recessive
1137,OBSOLETE: Pulmonary aortic stenosis obstructive uropathy,Disease,Disorder,,,,,,,,,,,
1133,AREDYLD syndrome,Malformation syndrome,Disorder,LD27.0Y,0008812,Q87.8,207780,C0342280,C537427,,8509,AREDYLD syndrome,Neonatal,Autosomal recessive
137675,Histiocytoid cardiomyopathy,Disease,Disorder,BC43.00,0010771,I42.0,500000,C1708371,C535584,,9511,Histiocytoid cardiomyopathy,"Infancy, Neonatal","Autosomal recessive, Unknown, X-linked dominant"
1131,X-linked mandibulofacial dysostosis,Malformation syndrome,Disorder,LD25.2,0010539,Q75.4,301950,C1844918,C537102,,1002,X-linked mandibulofacial dysostosis,Neonatal,X-linked recessive
137678,Spondyloepiphyseal dysplasia with metatarsal shortening,Disease,Disorder,LD24.3,0012206,Q77.7,609162,C1836683,C535766,,10220,Spondyloepiphyseal dysplasia with metatarsal shortening,"Adolescent, Childhood",Autosomal dominant
137698,Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,Particular clinical situation in a disease or syndrome,Disorder,1D82.Y,,B25.8,,,,,,Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,All ages,Not applicable
137754,Aminoacylase 1 deficiency,Disease,Disorder,5C50.E1,0012368,E72.8,609924,C1835922,C538246,,9741,Aminoacylase 1 deficiency,Childhood,Autosomal recessive
1145,Infantile-onset X-linked spinal muscular atrophy,Disease,Disorder,8B61.Y,0010532,G12.1,301830,C1844934,C535380,,8521,Infantile-onset X-linked spinal muscular atrophy,Neonatal,X-linked recessive
1144,Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,Malformation syndrome,Disorder,LD26.4Y,0007159,Q68.8,108200,C1862471,C535386,,784,Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,Neonatal,Unknown
137686,Asherman syndrome,Disease,Disorder,GA16.2,0015299,N85.6,,C0156372,,10053868,5853,Asherman syndrome,Adult,Not applicable
1153,OBSOLETE: Transient neonatal arthrogryposis,Disease,Disorder,,,,,,,,,,,
137776,Lethal congenital contracture syndrome type 2,Malformation syndrome,Disorder,LD26.4Y,0011868,Q68.8,607598,C1843478,C564369,,9177,Lethal congenital contracture syndrome type 2,"Antenatal, Neonatal",Autosomal recessive
1150,Arthrogryposis multiplex congenita-whistling face syndrome,Malformation syndrome,Disorder,LD26.41,0008825,Q87.8,208155,C1859711,C538401,,792,Arthrogryposis multiplex congenita-whistling face syndrome,"Antenatal, Neonatal",Autosomal recessive
1149,Kuskokwim syndrome,Malformation syndrome,Disorder,,0015241,Q87.2,259450,C1859709,C538124,,3150,Kuskokwim syndrome,"Childhood, Neonatal",Autosomal recessive
137807,Primary cutaneous amyloidosis,Clinical group,Group of disorders,5D00.0,0015301,,,C0268397,C562642,10011659,132,Primary cutaneous amyloidosis,All ages,"Autosomal dominant, Not applicable"
1159,Progressive pseudorheumatoid dysplasia,Disease,Disorder,LD24.3,0008827,Q77.7,208230,C0432215,C535387,,9184,Progressive pseudorheumatoid dysplasia,Childhood,Autosomal recessive
137810,Nodular cutaneous amyloidosis,Disease,Disorder,5D00.0,0015302,L99.0*,,C4274331,,10056953,10562,,,
137783,Lethal congenital contracture syndrome type 3,Malformation syndrome,Disorder,LD26.4Y,0012656,Q68.8,614915,C1969655,C566961,,,Lethal congenital contracture syndrome type 3,"Antenatal, Neonatal",Autosomal recessive
1211,OBSOLETE: Atrichia-intellectual disability and growth delay syndrome,Disease,Disorder,,,,,,,,,,,
1214,Progressive hemifacial atrophy,Disease,Disorder,EB61.Y,0007710,G51.8,141300,C0015458,,10073006,7338,Progressive hemifacial atrophy,"Adolescent, Adult, Childhood",Not applicable
1215,Autosomal dominant optic atrophy plus syndrome,Disease,Disorder,9C40.8,0014720,H47.2,616648,C3276549,,,5243,Autosomal dominant optic atrophy plus syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
138041,Pierre Robin syndrome associated with collagen disease,Category,Group of disorders,,,,,C5679599,,,19894,,,
1216,Autosomal dominant congenital benign spinal muscular atrophy,Disease,Disorder,8B61.4,0010839,G12.1,600175,C1838492,C563981,,1474,Autosomal dominant congenital benign spinal muscular atrophy,"Antenatal, Neonatal",Autosomal dominant
138047,Pierre Robin syndrome associated with a chromosomal anomaly,Category,Group of disorders,,,,,C5679600,,,,,,
138044,Rare disease with Pierre Robin syndrome,Category,Group of disorders,,,,,C5680627,,,19895,,,
1219,Aurocephalosyndactyly,Malformation syndrome,Disorder,,,,109050,C1862380,D000168,10000590,,,,
138055,Pierre Robin syndrome associated with bone disease,Category,Group of disorders,,,,,C5679601,,,19898,,,
1221,Cheilitis glandularis,Disease,Disorder,DA00.0,0007313,K13.0,118330,C0267034,C535921,,412,Cheilitis glandularis,"Adolescent, Adult, Childhood, Elderly",Not applicable
138050,Pierre Robin syndrome associated with branchial archs anomalies,Category,Group of disorders,,,,,C5679602,,,19897,,,
138063,OBSOLETE: Syndrome associated with Pierre Robin syndrome,Category,Group of disorders,,,,,,,,,,,
138059,Teratogenic Pierre Robin syndrome,Category,Group of disorders,,,,,C5679603,,,19899,,,
1225,Baller-Gerold syndrome,Malformation syndrome,Disorder,LD24.GY,0009039,Q75.0,218600,C0265308,C536788,10083963,1602,Baller-Gerold syndrome,"Antenatal, Neonatal",Autosomal recessive
138069,OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome,Category,Group of disorders,,,,,,,,,,,
1226,Bamforth-Lazarus syndrome,Malformation syndrome,Disorder,5A00.0Y,0009437,E03.1,241850,C1855794,C537901,10090559,414,Bamforth-Lazarus syndrome,"Antenatal, Neonatal",Autosomal recessive
138066,OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies,Category,Group of disorders,,,,,,,,,,,
1227,Bangstad syndrome,Malformation syndrome,Disorder,5B0Y,0008874,E31.8,210740,C0342284,C537902,,812,Bangstad syndrome,Neonatal,Autosomal recessive
1184,Ataxia-photosensitivity-short stature syndrome,Malformation syndrome,Disorder,,0015248,Q87.8,,C4751230,,,2287,Ataxia-photosensitivity-short stature syndrome,"Childhood, Infancy",Unknown
1182,Spastic ataxia with congenital miosis,Disease,Disorder,,0007165,G11.4,108650,C1862441,C566247,,,Spastic ataxia with congenital miosis,"Adolescent, Childhood, Infancy, Neonatal",Autosomal dominant
137888,Auriculocondylar syndrome,Malformation syndrome,Disorder,LD2F.16,0000107,Q75.8,615706,C1865295,C538270,,9798,Auriculocondylar syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,Clinical subtype,Subtype of disorder,MF7Y,0009461,N46,619585,C0403812,C562903,,12385,Male infertility due to large-headed multiflagellar polyploid spermatozoa,,Autosomal recessive
1186,Infantile-onset spinocerebellar ataxia,Disease,Disorder,LD90.Y,0010060,G11.1,271245,C1849096,C535523,,4062,Infantile-onset spinocerebellar ataxia,Infancy,Autosomal recessive
1185,Spinocerebellar ataxia-dysmorphism syndrome,Disease,Disorder,,0010062,G11.8,271270,C0796166,,,4958,Spinocerebellar ataxia-dysmorphism syndrome,Infancy,Autosomal recessive
137898,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,Disease,Disorder,5C53.23,0012622,E88.8,611105,C1970180,C567009,,12652,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
1188,Ataxia-deafness-intellectual disability syndrome,Malformation syndrome,Disorder,LD2H.Y,0008838,G11.1,208850,C4304023,,,4644,Ataxia-deafness-intellectual disability syndrome,"Childhood, Infancy",Unknown
137902,OBSOLETE: Isolated optic nerve hypoplasia/aplasia,Morphological anomaly,Disorder,,,,,,,,,,,
137905,Syndromic optic nerve hypoplasia,Category,Group of disorders,,,,,C5680629,,,19888,,,
1187,Lethal ataxia with deafness and optic atrophy,Disease,Disorder,LD2H.Y,0010533,E79.8,301835,C0796028,C535388,,8756,Lethal ataxia with deafness and optic atrophy,"Infancy, Neonatal",X-linked recessive
1190,Atelosteogenesis type I,Malformation syndrome,Disorder,LD24.E,0007167,Q78.8,108720,C0265283,C535396,,9287,Atelosteogenesis type I,"Antenatal, Neonatal",Autosomal dominant
137908,Hypotonia with lactic acidemia and hyperammonemia,Disease,Disorder,5C53.23,0012718,E88.8,611719,C2673642,C567126,,,Hypotonia with lactic acidemia and hyperammonemia,"Antenatal, Neonatal",Autosomal recessive
137911,Autism-facial port-wine stain syndrome,Malformation syndrome,Disorder,,,,,,,,10303,,,
137914,Choanal atresia,Morphological anomaly,Disorder,LA70.2,0012155,Q30.0,608911,C0008297,D002754,10008587,,Choanal atresia,"Childhood, Infancy, Neonatal",Not applicable
1193,Atkin-Flaitz syndrome,Malformation syndrome,Disorder,,0010323,Q87.8,300431,C0796206,C538195,,3537,Atkin-Flaitz syndrome,Neonatal,X-linked dominant
137917,"Choanal atresia, unilateral",Clinical subtype,Subtype of disorder,LA70.2,0015312,Q30.0,,C5680630,,,19889,"Choanal atresia, unilateral","Infancy, Neonatal",Not applicable
1200,Burn-McKeown syndrome,Malformation syndrome,Disorder,,0012064,Q87.8,616462,C1837822,C537411,,10041,Burn-McKeown syndrome,Neonatal,Autosomal recessive
137920,"Choanal atresia, bilateral",Clinical subtype,Subtype of disorder,LA70.2,0015313,Q30.0,,C4025317,,,19890,"Choanal atresia, bilateral","Infancy, Neonatal",Not applicable
137923,OBSOLETE: Cervicofacial lymphatic malformation,Malformation syndrome,Disorder,,,,,,,,,,,
1198,Colonic atresia,Morphological anomaly,Disorder,LB16.0,0010562,Q42.9,303650,C0266190,C562562,,1446,Colonic atresia,"Antenatal, Neonatal",Not applicable
137926,Primary laryngeal lymphangioma,Malformation syndrome,Disorder,,0015314,D18.1,,C4706521,,,19891,Primary laryngeal lymphangioma,"Infancy, Neonatal",
137929,Neonatal brainstem dysfunction,Disease,Disorder,,0015315,G93.8,,C4749374,,,19892,,,
1203,Duodenal atresia,Morphological anomaly,Disorder,LB14,0009126,Q41.0,223400,C0266174,C535720,10013812,54,Duodenal atresia,"Antenatal, Childhood, Infancy, Neonatal",Unknown
1208,Pulmonary atresia-intact ventricular septum syndrome,Morphological anomaly,Disorder,LA8A.10,0009931,Q22.6,265150,C0344975,C562832,,4600,Pulmonary atresia-intact ventricular septum syndrome,"Antenatal, Infancy, Neonatal",
137932,Congenital laryngeal palsy,Malformation syndrome,Disorder,LA71.Y,0015316,J38.0,,C0396058,,10087175,12713,Congenital laryngeal palsy,Neonatal,
137935,Airway infantile hemangioma,Disease,Disorder,,0015317,D18.0,,C3274531,,,19893,Airway infantile hemangioma,Infancy,Not applicable
1449,Ring chromosome 7 syndrome,Malformation syndrome,Disorder,LD7Y,0015441,Q93.2,,C0795818,C537813,,1345,Ring chromosome 7 syndrome,"Antenatal, Neonatal",
141242,Paramedian nasal cleft,Morphological anomaly,Disorder,LA51,0015414,Q18.8,614687,C4759655,,,,Paramedian nasal cleft,"Antenatal, Neonatal",
1453,Cleidorhizomelic syndrome,Malformation syndrome,Disorder,LD24.A,0007341,Q77.8,119650,C1861515,C536428,,5532,Cleidorhizomelic syndrome,Neonatal,Autosomal dominant
141239,Median cleft of the upper lip and maxilla,Morphological anomaly,Disorder,LA51,0015413,Q18.8,,C3697381,,,,,,
1440,Ring chromosome 14 syndrome,Malformation syndrome,Disorder,LD7Y,0014708,Q93.2,616606,C2930916,C535487,,6072,Ring chromosome 14 syndrome,Childhood,"Not applicable, Unknown"
141234,Median facial cleft,Clinical group,Group of disorders,,,,,C4022007,,,19965,Median facial cleft,"Antenatal, Neonatal",
1443,Ring chromosome 19 syndrome,Malformation syndrome,Disorder,LD7Y,0015435,Q93.2,,C0795869,,,1333,Ring chromosome 19 syndrome,Antenatal,
141229,Facial cleft,Category,Group of disorders,LA51,0015411,,,C5886881,,,19964,,,
141261,Tessier number 5 facial cleft,Morphological anomaly,Disorder,LA51,0015416,Q18.8,,C0432119,,,,Tessier number 5 facial cleft,"Antenatal, Neonatal",
141258,Tessier number 4 facial cleft,Morphological anomaly,Disorder,LA51,0010850,Q18.8,600251,C4703420,,,,Tessier number 4 facial cleft,"Antenatal, Neonatal",Unknown
1458,CODAS syndrome,Malformation syndrome,Disorder,,0010879,Q87.8,600373,C1838180,C536434,,1418,CODAS syndrome,"Infancy, Neonatal",Autosomal recessive
141253,Oblique facial cleft,Clinical group,Group of disorders,,,,,C5679604,,,,Oblique facial cleft,"Infancy, Neonatal",
1454,Joubert syndrome with hepatic defect,Disease,Disorder,LD20.0Y,0100349,Q04.3,619111,C1857662,C536430,,1410,Joubert syndrome with hepatic defect,Neonatal,Autosomal recessive
190,Coats disease,Disease,Disorder,LD21.Y,0010269,H35.0,300216,C0154832,D058456,10015901,6121,Coats disease,Childhood,Not applicable
141199,OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3,Clinical subtype,Subtype of disorder,,,,,,,,,,,
1429,Benign hereditary chorea,Disease,Disorder,8A01.0,0001595,G25.5,215450,C0393584,,,1305,Benign hereditary chorea,"Childhood, Infancy",Autosomal dominant
141194,OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 1,Clinical subtype,Subtype of disorder,,,,,,,,,,,
141189,Cerebrofacial arteriovenous metameric syndrome,Malformation syndrome,Disorder,,0015405,,,C3839265,,,,,,
1426,Greenberg dysplasia,Disease,Disorder,LD24.04,0008974,Q77.3,215140,C2931048,C535858,,8754,Greenberg dysplasia,"Antenatal, Neonatal",Autosomal recessive
141184,Rapidly involuting congenital hemangioma,Disease,Disorder,2E81.2Y,0015404,D18.0,,C1275421,,,19958,Rapidly involuting congenital hemangioma,Antenatal,Not applicable
1427,Autosomal recessive otospondylomegaepiphyseal dysplasia,Disease,Disorder,LD24.3,0008975,Q77.7,215150,C4520892,,10084407,4130,Autosomal recessive otospondylomegaepiphyseal dysplasia,"Antenatal, Neonatal",Autosomal recessive
1435,Xq21 microdeletion syndrome,Malformation syndrome,Disorder,,0010558,Q93.5,303110,C1844836,C537793,,369,Xq21 microdeletion syndrome,"Infancy, Neonatal",X-linked recessive
141219,Nasal dorsum fistula,Morphological anomaly,Disorder,LA5Y,0015410,Q18.8,,C0339853,,,19963,,,
1436,X-linked skeletal dysplasia-intellectual disability syndrome,Malformation syndrome,Disorder,LD24.5Y,0010668,Q87.5,309620,C1839729,C564101,,3520,X-linked skeletal dysplasia-intellectual disability syndrome,Neonatal,X-linked recessive
141214,Isolated congenital syngnathia,Malformation syndrome,Disorder,LA5Y,0015409,Q67.4,,C4706392,,,19962,Isolated congenital syngnathia,Neonatal,
141209,Diffuse lymphatic malformation,Malformation syndrome,Disorder,2E81.10,0015408,I89.8,,C3839921,,,19961,Diffuse lymphatic malformation,"Infancy, Neonatal",Not applicable
1432,Autosomal dominant chorioretinopathy-microcephaly syndrome,Malformation syndrome,Disorder,,,,,C3501946,,,,,,
1433,Choroidal atrophy-alopecia syndrome,Malformation syndrome,Disorder,LD27.0Y,0015428,Q82.8,,C2931026,C535810,,3704,Choroidal atrophy-alopecia syndrome,Neonatal,Unknown
155832,Rare head and neck malformation,Category,Group of disorders,,,,,C5680631,,,19972,,,
1484,Contractures-ectodermal dysplasia-cleft lip/palate syndrome,Malformation syndrome,Disorder,LD27.0Y,0010531,Q87.8,301815,C2931745,C538135,,1515,Contractures-ectodermal dysplasia-cleft lip/palate syndrome,Neonatal,"Autosomal recessive, X-linked recessive"
155835,Cysts and fistulae of the face and oral cavity,Category,Group of disorders,,0015476,,,C5680632,,,,,,
141333,Biemond syndrome type 2,Disease,Disorder,,0008864,Q87.8,210350,C1859487,C565902,,882,Biemond syndrome type 2,"Antenatal, Neonatal",Unknown
155878,Submucosal cleft palate,Morphological anomaly,Disorder,LA4Y,0015479,Q35.9,,C4551487,,,,,,
1490,Corneal dystrophy-perceptive deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0009015,H18.5,217400,C1857572,C535473,,1529,Corneal dystrophy-perceptive deafness syndrome,Neonatal,Autosomal recessive
1487,Cooks syndrome,Malformation syndrome,Disorder,LD27.0Y,0007134,Q84.6,106995,C1862841,C537766,,4083,Cooks syndrome,Neonatal,Autosomal dominant
155838,Pinnae fistula or cyst,Morphological anomaly,Disorder,LA21.Y,0015477,Q18.1,,C5680633,,,,,,
155867,Paramedian facial cleft,Clinical group,Group of disorders,,,,,C4703416,,,,Paramedian facial cleft,"Antenatal, Neonatal",
1486,Lethal congenital contracture syndrome type 1,Malformation syndrome,Disorder,LD26.4Y,0009670,Q68.8,253310,C1854664,C537194,,3227,Lethal congenital contracture syndrome type 1,"Antenatal, Neonatal",Autosomal recessive
141276,Tessier number 7 facial cleft,Morphological anomaly,Disorder,LA51,0013300,Q18.4,613545,C4552111,,,,Tessier number 7 facial cleft,"Antenatal, Neonatal",Autosomal dominant
141265,Tessier number 6 facial cleft,Morphological anomaly,Disorder,LA51,0015417,Q18.8,,C0432120,,,,Tessier number 6 facial cleft,"Antenatal, Neonatal",
1466,COFS syndrome,Clinical subtype,Subtype of disorder,LD2B,0008926,Q87.1,616570,C5399761,,,6027,COFS syndrome,"Antenatal, Neonatal",Autosomal recessive
141269,Lateral facial cleft,Clinical group,Group of disorders,,,,,,,,,Lateral facial cleft,"Antenatal, Neonatal",
141327,OBSOLETE: Orofaciodigital syndrome type 12,Malformation syndrome,Disorder,,,,,,,,,,,
141330,OBSOLETE: Orofaciodigital syndrome type 13,Malformation syndrome,Disorder,,,,,,,,,,,
1471,Coloboma of macula-brachydactyly type B syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007353,Q87.1,120400,C1852752,C535969,,1437,Coloboma of macula-brachydactyly type B syndrome,"Antenatal, Neonatal",Autosomal dominant
141288,Midline cervical cleft,Morphological anomaly,Disorder,LA51,0015419,Q18.8,,C4479645,C000719407,,,Midline cervical cleft,,Not applicable
141291,Cleft lip and alveolus,Morphological anomaly,Disorder,LA41,0015420,Q36.9,608874,C1298692,,,,Cleft lip and alveolus,"Infancy, Neonatal",Multigenic/multifactorial
141091,Polyrrhinia,Malformation syndrome,Disorder,LA70,0015388,Q30.8,,C4274730,,,19945,Polyrrhinia,"Antenatal, Neonatal",Not applicable
1408,Hair defect-photosensitivity-intellectual disability syndrome,Malformation syndrome,Disorder,,,,234030,C1856241,,,2582,,,
1409,Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome,Malformation syndrome,Disorder,,,,278200,C0406718,C536746,,,,,
141083,Nasolacrimal duct cyst,Morphological anomaly,Disorder,LA14.12,0015387,H04.6,,C5575612,,,19944,Nasolacrimal duct cyst,"Adult, Infancy, Neonatal",Not applicable
1410,Uncombable hair syndrome,Disease,Disorder,EC21.0,0008621,Q84.1,617252,C0432347,C536939,,5404,Uncombable hair syndrome,Childhood,Autosomal recessive
141099,Proboscis lateralis,Malformation syndrome,Disorder,LA70.Y,0015390,Q30.8,,C4274985,,,19947,Proboscis lateralis,"Antenatal, Infancy, Neonatal",Not applicable
141096,Supernumerary nostril,Malformation syndrome,Disorder,LA70.Y,0015389,Q30.8,,C4021372,,,19946,Supernumerary nostril,"Antenatal, Neonatal",Not applicable
1412,Tarsal-carpal coalition syndrome,Malformation syndrome,Disorder,LD26.3,0008521,Q74.8,186570,C1861305,C536943,,9225,Tarsal-carpal coalition syndrome,Neonatal,Autosomal dominant
141107,Nasopharyngeal teratoma,Clinical subtype,Subtype of disorder,LA70.Y,0015391,D10.6,,C4531264,,,19948,,,
141103,Nasal dermoid cyst,Morphological anomaly,Disorder,DA05.Y,0010921,Q18.8,600679,C0339852,,,,,,
141115,Nasal ganglioglioma,Disease,Disorder,2A00.21,0015393,Q30.8,,C5548206,,,19950,Nasal ganglioglioma,"Antenatal, Neonatal",
1416,Familial calcium pyrophosphate deposition,Disease,Disorder,FA26.0,,M11.1,600668,C5700249,,,1292,Familial calcium pyrophosphate deposition,Adult,"Autosomal dominant, Not applicable"
141112,Nasal glial heterotopia,Disease,Disorder,LA70.Y,0015392,Q30.8,,C0266490,,,19949,Nasal glial heterotopia,,Not applicable
1394,Cerebrofaciothoracic dysplasia,Malformation syndrome,Disorder,LD24.H,,Q87.5,213980,C1859252,C565862,,1210,Cerebrofaciothoracic dysplasia,"Antenatal, Neonatal",Autosomal recessive
141051,Facial dermoid cyst,Morphological anomaly,Disorder,DA05.Y,0015380,Q18.8,,C4706321,,,19938,,,
141064,Isolated lower lip fistula,Morphological anomaly,Disorder,LA5Y,0015382,Q38.0,,C1274792,,,19940,,,
1396,OBSOLETE: Cerebrorenodigital syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
141061,Commissural lip fistula,Morphological anomaly,Disorder,LA5Y,0015381,Q38.0,,C5680634,,,19939,,,
141071,Isolated digestive duplication cyst of the tongue,Morphological anomaly,Disorder,DA03.Y,0015384,Q38.3,,C4512051,,,19942,,,
1397,Hydrocephaly-cerebellar agenesis syndrome,Malformation syndrome,Disorder,,0010612,Q04.3,307010,C4274899,,,1200,Hydrocephaly-cerebellar agenesis syndrome,Neonatal,X-linked recessive
141067,Cervicofacial fibrochondroma,Morphological anomaly,Disorder,LA6Y,0015383,Q18.8,,C5231314,,,19941,,,
1398,Isolated cerebellar agenesis,Morphological anomaly,Disorder,,,Q04.3,,C0344488,,10008033,,Isolated cerebellar agenesis,Childhood,
1399,Richards-Rundle syndrome,Malformation syndrome,Disorder,LD2H.Y,0009493,G60.2,245100,C0796136,C535674,,8423,Richards-Rundle syndrome,Infancy,Autosomal recessive
141077,Epignathus,Clinical subtype,Subtype of disorder,LA70.Y,0015386,D37.0,,C0266725,,,,Epignathus,"Antenatal, Neonatal",Not applicable
1401,CHAND syndrome,Malformation syndrome,Disorder,LD27.0Y,0008959,Q82.4,214350,C0406733,C538074,,,CHAND syndrome,Neonatal,Autosomal recessive
141074,External auditory canal aplasia/hypoplasia,Morphological anomaly,Disorder,LA22.2,0015385,Q16.1,607842,C0266597,,,,External auditory canal aplasia/hypoplasia,Neonatal,Autosomal dominant
141152,Isolated congenital hypoglossia/aglossia,Morphological anomaly,Disorder,LA31.1,0013003,Q38.3,612776,C5680636,,,,Isolated congenital hypoglossia/aglossia,"Infancy, Neonatal",
174,"Metaphyseal chondrodysplasia, Schmid type",Disease,Disorder,LD24.7,0007983,Q78.5,156500,C0265289,C537352,,7029,"Metaphyseal chondrodysplasia, Schmid type","Childhood, Infancy, Neonatal",Autosomal dominant
141163,Glossopalatine ankylosis,Malformation syndrome,Disorder,LD25.0Y,0015399,Q38.3,,C4303569,,,19954,Glossopalatine ankylosis,"Infancy, Neonatal",Not applicable
141168,OBSOLETE: Frontonasal arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,,,
141171,OBSOLETE: Maxillary arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,,,
1425,Desbuquois syndrome,Malformation syndrome,Disorder,LD24.E,0015426,Q78.8,615777,C0432242,C535943,,1818,Desbuquois syndrome,"Antenatal, Neonatal",Autosomal recessive
141174,OBSOLETE: Mandibular arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,,,
141179,Non-involuting congenital hemangioma,Disease,Disorder,2E81.2Y,0015403,D18.0,,C1275417,,,10890,Non-involuting congenital hemangioma,Antenatal,Not applicable
141118,Nasal encephalocele,Clinical subtype,Subtype of disorder,LA01,0015394,Q01.1,,C0014066,,,19951,Nasal encephalocele,,Unknown
1420,"OBSOLETE: Lethal chondrodysplasia, Moerman type",Malformation syndrome,Disorder,,,,,,,,,,,
141121,Congenital subglottic stenosis,Malformation syndrome,Disorder,LA71.3,0015395,Q31.1,,C0396051,,10087149,19952,Congenital subglottic stenosis,Neonatal,
141124,Congenital laryngeal cyst,Morphological anomaly,Disorder,LA71.Y,0015396,Q31.8,,C1393619,,,19953,Congenital laryngeal cyst,"Infancy, Neonatal",
1421,"OBSOLETE: Lethal chondrodysplasia, Seller type",Malformation syndrome,Disorder,,,,,,,,,,,
141127,Congenital tracheal stenosis,Morphological anomaly,Disorder,LA73.0,0011340,Q32.1,603569,C0265767,C000715347,,12008,Congenital tracheal stenosis,"Infancy, Neonatal",Not applicable
141132,Oculo-auriculo-vertebral spectrum,Malformation syndrome,Disorder,LD2F.16,,Q87.0,164210,C0265240,,10051934,12074,Oculo-auriculo-vertebral spectrum,"Antenatal, Neonatal",Not applicable
141136,Otomandibular syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
141145,Hemifacial hyperplasia,Malformation syndrome,Disorder,LA52,0007590,Q67.4,133900,C1399354,,,,Hemifacial hyperplasia,"Antenatal, Infancy, Neonatal",Not applicable
141148,Hemifacial myohyperplasia,Malformation syndrome,Disorder,LA52,0011723,Q67.4,606773,C1847521,C535862,,10084,Hemifacial myohyperplasia,Neonatal,
156728,"Spondyloepimetaphyseal dysplasia, matrilin-3 type",Disease,Disorder,LD24.3,0012108,Q77.7,608728,C1837481,C563869,,10611,"Spondyloepimetaphyseal dysplasia, matrilin-3 type","Antenatal, Neonatal",Autosomal recessive
1375,Cataract-hypertrichosis-intellectual disability syndrome,Malformation syndrome,Disorder,LD27.3,0008894,Q87.8,211770,C0796282,C537959,,,Cataract-hypertrichosis-intellectual disability syndrome,Neonatal,Autosomal recessive
156723,Piepkorn dysplasia,Disease,Disorder,,,,,,,,,,,
1376,OBSOLETE: Congenital cataract-ichthyosis syndrome,Disease,Disorder,,,,,,,,,,,
163,Hereditary hyperferritinemia-cataract syndrome,Disease,Disorder,9B10.1Y,0010952,H26.0,600886,C1833213,C538137,,2806,Hereditary hyperferritinemia-cataract syndrome,All ages,Autosomal dominant
156643,Genetic endocrine growth disease,Category,Group of disorders,,,,,C5680637,,,,,,
156638,Rare genetic endocrine disease,Category,Group of disorders,,,,,C5680638,,,,,,
156629,Rare genetic cause of hypertension,Category,Group of disorders,,,,,C5680639,,,,,,
1373,Cataract-aberrant oral frenula-growth delay syndrome,Malformation syndrome,Disorder,,0007277,Q87.8,115645,C4274900,,,5554,Cataract-aberrant oral frenula-growth delay syndrome,Childhood,
156622,Genetic urogenital tract malformation,Category,Group of disorders,,,,,C5680640,,,,,,
156619,Rare genetic urogenital disease,Category,Group of disorders,,,,,C5680641,,,,,,
1368,Cataract-ataxia-deafness syndrome,Disease,Disorder,LD2H.Y,0008928,G11.2,212710,C0796123,C538283,,1141,Cataract-ataxia-deafness syndrome,Neonatal,Autosomal recessive
156610,Rare genetic respiratory disease,Category,Group of disorders,,,,,C5680642,,,,,,
1366,Autosomal recessive palmoplantar keratoderma and congenital alopecia,Disease,Disorder,LD27.0Y,0008923,Q82.8,212360,C1859316,C535336,,1139,Autosomal recessive palmoplantar keratoderma and congenital alopecia,Neonatal,Autosomal recessive
156607,Genetic biliary tract disease,Category,Group of disorders,,,,,C5680643,,,,,,
156604,Genetic parenchymatous liver disease,Category,Group of disorders,,,,,C5680644,,,,,,
156601,Rare genetic hepatic disease,Category,Group of disorders,,,,,C5680645,,,,,,
156532,Rare syndrome with cardiac malformations,Category,Group of disorders,,,,,C5680646,,,,,,
156252,Tracheal anomaly,Category,Group of disorders,LA73,,,,C5680647,,,,,,
1361,Carnosinase deficiency,Biological anomaly,Disorder,5C50.F1,0008921,E70.8,212200,C5700357,,,6001,Carnosinase deficiency,Infancy,Autosomal recessive
1393,Cerebrocostomandibular syndrome,Malformation syndrome,Disorder,LD24.H,0007301,Q87.8,117650,C0265342,C562538,10088264,6026,Cerebrocostomandibular syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
157823,Klüver-Bucy syndrome,Clinical syndrome,Disorder,,0005817,G04.8,,C0270707,D020232,10066431,6840,,,
157826,Congenital epulis,Disease,Disorder,KC23,0015528,K06.8,,C0376319,,,,Congenital epulis,"Infancy, Neonatal",
157808,Isolated pseudoarthrosis of the limbs,Morphological anomaly,Disorder,,0015525,Q74.8,,C5190522,,,,,,
1390,Night blindness-skeletal anomalies-dysmorphism syndrome,Malformation syndrome,Disorder,,0015326,Q87.8,,C5679607,,,3994,Night blindness-skeletal anomalies-dysmorphism syndrome,Childhood,
157820,Cold-induced sweating syndrome,Disease,Disorder,8C21.Y,0015526,G90.8,272430,,,,,Cold-induced sweating syndrome,"Adult, Childhood",Autosomal recessive
1389,Cortical blindness-intellectual disability-polydactyly syndrome,Malformation syndrome,Disorder,,0009024,Q87.8,218010,C4517339,,,1548,Cortical blindness-intellectual disability-polydactyly syndrome,"Antenatal, Neonatal",Autosomal recessive
157798,Serrated polyposis syndrome,Disease,Disorder,2E92.40,0015524,D12.6,617108,C4296896,,10085922,,Serrated polyposis syndrome,"Adult, Elderly","Autosomal dominant, Multigenic/multifactorial, Unknown"
1388,Catel-Manzke syndrome,Malformation syndrome,Disorder,LD2F.1Y,0014507,Q87.8,616145,C1844887,C535347,10083949,28,Catel-Manzke syndrome,"Antenatal, Neonatal",Autosomal recessive
157801,Mesoaxial synostotic syndactyly with phalangeal reduction,Morphological anomaly,Disorder,LB79.Y,0012271,Q70.2,609432,C1836206,,,10590,Mesoaxial synostotic syndactyly with phalangeal reduction,"Infancy, Neonatal",Autosomal recessive
1387,Cataract-intellectual disability-hypogonadism syndrome,Malformation syndrome,Disorder,5A61.0,,Q87.8,619420,C0796037,C536028,,3406,Cataract-intellectual disability-hypogonadism syndrome,Neonatal,Autosomal recessive
157791,Epithelioid hemangioendothelioma,Disease,Disorder,2B5Y,0015523,D48.1,,C0206732,D018323,,,Epithelioid hemangioendothelioma,"Adolescent, Adult, Childhood, Elderly",Not applicable
157794,Hereditary mixed polyposis syndrome,Disease,Disorder,2E92.40,0011023,D12.6,610069,C5192681,,,,Hereditary mixed polyposis syndrome,Childhood,Autosomal dominant
157769,Situs ambiguus,Morphological anomaly,Disorder,LA84,,Q89.3,,C0266642,,10059119,,Situs ambiguus,Antenatal,Multigenic/multifactorial
157788,Hypospadias-hypertelorism-coloboma and deafness syndrome,Malformation syndrome,Disorder,,,,,C1863870,,,,,,
157716,Late infantile CACH syndrome,Clinical subtype,Subtype of disorder,8A44.3,0015520,E75.2,603896,C5680648,,,,Late infantile CACH syndrome,Childhood,Autosomal recessive
1381,OBSOLETE: Cataract-intellectual disability-anal atresia-urinary defects syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
157719,Juvenile or adult CACH syndrome,Clinical subtype,Subtype of disorder,8A44.3,0015521,E75.2,603896,C5680649,,,,Juvenile or adult CACH syndrome,"Adolescent, Adult",Autosomal recessive
1380,Cataract-nephropathy-encephalopathy syndrome,Malformation syndrome,Disorder,,0009045,Q87.8,218900,C0795914,C536216,,1614,Cataract-nephropathy-encephalopathy syndrome,Neonatal,Autosomal recessive
157713,Congenital or early infantile CACH syndrome,Clinical subtype,Subtype of disorder,8A44.3,0015519,E75.2,603896,C5680650,,,,Congenital or early infantile CACH syndrome,"Infancy, Neonatal",Autosomal recessive
156731,"Dyssegmental dysplasia, Rolland-Desbuquois type",Disease,Disorder,LD24.3,0009139,Q77.7,224400,C0432209,C537999,,9810,"Dyssegmental dysplasia, Rolland-Desbuquois type","Antenatal, Neonatal",
1377,Cataract-microcornea syndrome,Malformation syndrome,Disorder,,0015300,Q13.8,604219,C1861829,C538287,,1155,Cataract-microcornea syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
157215,Hereditary hypophosphatemic rickets with hypercalciuria,Disease,Disorder,5C63.22,0009431,E83.3,241530,C1853271,C562793,,,Hereditary hypophosphatemic rickets with hypercalciuria,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
1325,Camptodactyly-taurinuria syndrome,Malformation syndrome,Disorder,,0015272,Q68.1,,C4518792,C537972,,1069,Camptodactyly-taurinuria syndrome,Infancy,Autosomal dominant
156159,Isolated dystonia,Category,Group of disorders,,0015494,,,C5679608,,,,,,
1326,"Camptodactyly syndrome, Guadalajara type 2",Malformation syndrome,Disorder,,0008899,Q87.1,211920,C2931680,C537971,,1068,"Camptodactyly syndrome, Guadalajara type 2",Neonatal,Autosomal recessive
156156,"Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy",Disease,Disorder,,,,,,,,,,,
156165,Retinal ciliopathy,Category,Group of disorders,,0022410,,,C5680651,,,,,,
1327,"Camptodactyly syndrome, Guadalajara type 1",Malformation syndrome,Disorder,,0008898,Q87.1,211910,C1859359,C537970,,1067,"Camptodactyly syndrome, Guadalajara type 1",Neonatal,Autosomal recessive
156162,Renal ciliopathy,Category,Group of disorders,,,,,C5680652,,,,,,
1328,Camurati-Engelmann disease,Malformation syndrome,Disorder,LD24.1Y,0007542,Q78.3,131300,C0011989,D003966,10087147,1072,Camurati-Engelmann disease,"Adolescent, Adult, Childhood",Autosomal dominant
156146,Predominantly small-vessel vasculitis,Clinical group,Group of disorders,,,,,C5680653,,,,,,
1321,Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,Malformation syndrome,Disorder,,0008900,Q87.2,211930,C5848327,C537287,,1064,Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,Neonatal,
156143,Predominantly medium-vessel vasculitis,Clinical group,Group of disorders,,,,,C5680654,,,,,,
1323,Camptodactyly-joint contractures-facial skeletal defects syndrome,Malformation syndrome,Disorder,,0011262,Q87.0,602612,C2931051,C535876,,216,Camptodactyly-joint contractures-facial skeletal defects syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
156152,Anti-neutrophil cytoplasmic antibody-associated vasculitis,Clinical group,Group of disorders,4A44.A,0015492,,,C2717865,D056648,10050894,13011,,,
156149,Immune complex mediated vasculitis,Category,Group of disorders,,0015491,,,C5680655,,,,,,
1314,Symmetrical thalamic calcifications,Disease,Disorder,,0015269,G93.8,,C4304914,,,5070,Symmetrical thalamic calcifications,Neonatal,Not applicable
156071,OBSOLETE: Keratoconus,Category,Group of disorders,,,,,,,,,,,
156005,Primary early-onset glaucoma,Clinical group,Group of disorders,,,,,C5680656,,,,,,
1317,CAMFAK syndrome,Disease,Disorder,,,,212540,C1859312,,,,,,
156140,Predominantly large-vessel vasculitis,Clinical group,Group of disorders,,,,,C5680657,,,,,,
1318,"Campomelia, Cumming type",Malformation syndrome,Disorder,LD24.C,0008896,Q87.8,211890,C1859371,C537966,,1061,"Campomelia, Cumming type","Antenatal, Neonatal",Autosomal recessive
1319,Camptobrachydactyly,Malformation syndrome,Disorder,,0007249,Q74.8,114150,C1861963,C537967,,1062,Camptobrachydactyly,Neonatal,Autosomal dominant
155889,Coloboma of inferior eyelid,Morphological anomaly,Disorder,,0015481,Q10.3,,C1837826,,,,,,
1305,Feingold syndrome,Malformation syndrome,Disorder,LD2F.1Y,0015267,Q87.8,614326,C0796068,C537734,,8407,Feingold syndrome,"Antenatal, Neonatal",Autosomal dominant
1307,Distal limb deficiencies-micrognathia syndrome,Malformation syndrome,Disorder,LD41.90,0009525,Q92.3,246560,C4302673,,,3252,Distal limb deficiencies-micrognathia syndrome,Neonatal,Autosomal recessive
155884,Coloboma of superior eyelid,Morphological anomaly,Disorder,,0015480,Q10.3,,C1863872,,,,,,
155899,Mandibulofacial dysostosis,Clinical group,Group of disorders,LD2F.16,0015483,Q75.4,,,D008342,10051456,,,,
155896,Otomandibular dysplasia,Category,Group of disorders,LD2F.16,,,,C5680658,,,,,,
1313,Infantile choroidocerebral calcification syndrome,Disease,Disorder,,0008981,G93.8,215480,C1859092,C535357,,1313,Infantile choroidocerebral calcification syndrome,"Infancy, Neonatal",Autosomal recessive
156237,Syndrome or malformation associated with head and neck malformations,Category,Group of disorders,,,,,C5680659,,,,,,
1350,Heart-hand syndrome type 2,Malformation syndrome,Disorder,LD2F.1Y,0015284,Q87.2,,C2931323,C536784,,9847,Heart-hand syndrome type 2,"Infancy, Neonatal",
156243,Pinnae and external auditory canal anomaly,Category,Group of disorders,,,,,C5680660,,,,,,
156246,Nose and cavum anomaly,Category,Group of disorders,LA70,,,,C5680661,,,,,,
1355,Congenital heart defect-round face-developmental delay syndrome,Malformation syndrome,Disorder,,0010039,Q87.8,270460,C0796162,C536680,,4905,Congenital heart defect-round face-developmental delay syndrome,"Infancy, Neonatal",
1352,Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010825,Q87.8,600123,C4706259,,,,Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,Neonatal,
156249,Larynx anomaly,Category,Group of disorders,LA71,,Q31,,,,,,,,
156212,Hypoglossia/aglossia,Category,Group of disorders,,,Q38.3,,C5680662,,,,,,
1342,Heart-hand syndrome type 3,Malformation syndrome,Disorder,LD2F.1Y,0007702,Q87.2,140450,C1841657,C535853,,2614,Heart-hand syndrome type 3,Neonatal,
156215,Oromandibular-limb anomalies syndrome,Category,Group of disorders,LD25.0,0015498,,,C5680663,,,,,,
156224,Paralytic facial malformation,Category,Group of disorders,,,,,C5680664,,,,,,
1345,Cardiomyopathy-cataract-hip spine disease syndrome,Disease,Disorder,BC43.0,0015282,I42.0,,C2931548,C537616,,1102,Cardiomyopathy-cataract-hip spine disease syndrome,"Adolescent, Adult",Autosomal recessive
156230,OBSOLETE: Facial arteriovenous malformation,Clinical group,Group of disorders,,,,,,,,,,,
156180,Retinal ciliopathy due to mutation in nephronophthisis gene,Category,Group of disorders,,,,,C5680666,,,,,,
1338,Heart defect-tongue hamartoma-polysyndactyly syndrome,Malformation syndrome,Disorder,,0009008,Q87.8,217085,C2931046,C535849,,4166,Heart defect-tongue hamartoma-polysyndactyly syndrome,Neonatal,Autosomal recessive
156183,Retinal ciliopathy due to mutation in Bardet-Biedl gene,Category,Group of disorders,,,,,C5680667,,,,,,
156202,Otomandibular dysplasia associated with monogenic syndromes,Category,Group of disorders,,,,,C5680668,,,,,,
1340,Cardiofaciocutaneous syndrome,Malformation syndrome,Disorder,LD27.0Y,0015280,Q87.8,615280,C1275081,C535579,10082805,9146,Cardiofaciocutaneous syndrome,"Antenatal, Neonatal",Autosomal dominant
1339,OBSOLETE: Cranioacrofacial syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
156207,Macroglossia,Category,Group of disorders,DA03.5,0015496,Q38.2,,C0024421,D008260,10025391,3342,,,
156168,Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene,Category,Group of disorders,,,,,C5679609,,,,,,
2856,Persistent Müllerian duct syndrome,Malformation syndrome,Disorder,LD2A.Y,0009857,Q55.8,261550,C1849930,C536665,10081352,8435,Persistent Müllerian duct syndrome,Infancy,Autosomal recessive
156171,Retinal ciliopathy due to mutation in the RPGR gene,Category,Group of disorders,,,,,C5680669,,,,,,
156174,Retinal ciliopathy due to mutation in the RPGRIP gene,Category,Group of disorders,,,,,C5680670,,,,,,
1336,Hyperkeratosis-hyperpigmentation syndrome,Disease,Disorder,,0007757,Q82.8,144190,C1840428,C564172,,,Hyperkeratosis-hyperpigmentation syndrome,"Adolescent, Childhood, Infancy",Autosomal dominant
156177,Retinal ciliopathy due to mutation in Usher gene,Category,Group of disorders,,,,,C5680671,,,,,,
1335,Pentalogy of Cantrell,Malformation syndrome,Disorder,LD2F.1Y,0010742,Q89.7,313850,C0559483,D058502,,7359,Pentalogy of Cantrell,"Antenatal, Neonatal",Not applicable
1683,Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome,Malformation syndrome,Disorder,,,,126320,C1852062,,,,,,
1682,Arterial dissection-lentiginosis syndrome,Malformation syndrome,Disorder,BD50.Z,0010889,Q87.8,600459,C4304024,,,,Arterial dissection-lentiginosis syndrome,Childhood,Unknown
1680,"OBSOLETE: Spastic diplegia, infantile type",Disease,Disorder,,,,,,,,,,,
1678,Dincsoy-Salih-Patel syndrome,Malformation syndrome,Disorder,,,,601016,C1832874,,,,,,
1757,Fibular dimelia-diplopodia syndrome,Malformation syndrome,Disorder,,0015773,Q74.8,,C4303758,,,,Fibular dimelia-diplopodia syndrome,Neonatal,Not applicable
1756,Caudal duplication,Malformation syndrome,Disorder,LD2F.1Y,0011928,Q87.8,607864,C0266688,,,1164,Caudal duplication,"Antenatal, Neonatal",Not applicable
1767,Familial progressive vestibulocochlear dysfunction,Disease,Disorder,,,,193005,,,,,,,
1765,OBSOLETE: Dyschondrosteosis-nephritis syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
140162,Inherited cancer-predisposing syndrome,Category,Group of disorders,,,,,C5680672,,,19921,,,
1766,Dysequilibrium syndrome,Disease,Disorder,,0009133,G11.8,615268,C0394006,C535731,10013140,1998,Dysequilibrium syndrome,Neonatal,Autosomal recessive
1777,Temtamy syndrome,Malformation syndrome,Disorder,,0009033,Q87.8,218340,C1857512,C536959,,5688,Temtamy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
1780,Thakker-Donnai syndrome,Malformation syndrome,Disorder,,0009202,Q87.8,227255,C2931219,C536503,,5158,Thakker-Donnai syndrome,"Antenatal, Neonatal",Autosomal recessive
1772,"45,X/46,XY mixed gonadal dysgenesis",Malformation syndrome,Disorder,LD2A.Y,0015779,Q98.7,,C0018055,D006060,,,"45,X/46,XY mixed gonadal dysgenesis",All ages,"Not applicable, Unknown"
1784,Acrofrontofacionasal dysostosis,Malformation syndrome,Disorder,LD25.3,0008715,Q75.1,201180,C1860118,C538186,,484,Acrofrontofacionasal dysostosis,Neonatal,Autosomal recessive
1782,Dysosteosclerosis,Malformation syndrome,Disorder,LD24.1Y,0009138,Q78.8,224300,C0432262,C562973,,2012,Dysosteosclerosis,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
1790,Hypomandibular faciocranial dysostosis,Malformation syndrome,Disorder,,0009425,Q75.4,241310,C1855848,C537154,,2907,Hypomandibular faciocranial dysostosis,"Antenatal, Neonatal",Unknown
1792,Humerospinal dysostosis,Disease,Disorder,,,,,,,,,,,
1786,"Acrofacial dysostosis, Catania type",Malformation syndrome,Disorder,LD25.2,0007045,Q75.4,101805,C2931762,C538182,,494,"Acrofacial dysostosis, Catania type","Antenatal, Neonatal","Autosomal dominant, X-linked dominant"
1788,"Acrofacial dysostosis, Rodríguez type",Malformation syndrome,Disorder,LD25.2,0008714,Q75.4,201170,C1860119,C538183,,496,"Acrofacial dysostosis, Rodríguez type","Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
859,Transcobalamin deficiency,Disease,Disorder,3A01.0,0010149,D51.2,275350,C0342701,,10084086,,Transcobalamin deficiency,"Infancy, Neonatal",Autosomal recessive
139441,Hypomyelination with atrophy of basal ganglia and cerebellum,Disease,Disorder,8A44.3,,E75.2,612438,,,,10917,Hypomyelination with atrophy of basal ganglia and cerebellum,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
3196,Steroid dehydrogenase deficiency-dental anomalies syndrome,Disease,Disorder,,0017904,K76.8,,C2931508,C537490,,5015,Steroid dehydrogenase deficiency-dental anomalies syndrome,Childhood,Autosomal recessive
139444,Leukoencephalopathy with bilateral anterior temporal lobe cysts,Disease,Disorder,8A44.3,0015348,E75.2,,C4304744,,,,Leukoencephalopathy with bilateral anterior temporal lobe cysts,"Infancy, Neonatal",Unknown
139447,Progressive cavitating leukoencephalopathy,Disease,Disorder,8A44.3,0015349,E75.2,,C4304840,,,19918,Progressive cavitating leukoencephalopathy,"Childhood, Infancy",Autosomal recessive
1573,Hypotrichosis with juvenile macular degeneration,Malformation syndrome,Disorder,LD27.0Y,0011107,Q84.0,601553,C1832162,C537698,,3066,Hypotrichosis with juvenile macular degeneration,"Infancy, Neonatal",Autosomal recessive
726,Alpers-Huttenlocher syndrome,Disease,Disorder,5C53.20,0008758,G31.8,203700,C0205710,,10062943,5783,Alpers-Huttenlocher syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
139450,Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,Malformation syndrome,Disorder,,0012739,Q13.8,611863,C4518464,,,10300,Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,No data available,Autosomal dominant
1575,OBSOLETE: Infantile striatothalamic degeneration,Disease,Disorder,,,,,,,,,,,
139455,Autosomal recessive bestrophinopathy,Disease,Disorder,9B71.Y,0012733,H35.5,611809,C3888198,,,10301,Autosomal recessive bestrophinopathy,All ages,Autosomal recessive
1574,Retinal degeneration-nanophthalmos-glaucoma syndrome,Malformation syndrome,Disorder,9E1Y,0009978,H35.5,267760,C2931831,C538364,,395,Retinal degeneration-nanophthalmos-glaucoma syndrome,Adult,Autosomal recessive
139466,SERKAL syndrome,Malformation syndrome,Disorder,,0012734,Q87.8,611812,C2678492,C567517,,10302,SERKAL syndrome,Antenatal,Autosomal recessive
1577,OBSOLETE: Infantile thalamic degeneration,Disease,Disorder,,,,,,,,,,,
1596,Distal deletion 15q syndrome,Malformation syndrome,Disorder,LD44.F,0012964,Q93.5,612626,C4707662,,,,Distal deletion 15q syndrome,"Antenatal, Neonatal",
139471,Microphthalmia with brain and digit anomalies,Malformation syndrome,Disorder,,0011936,Q11.2,607932,C1864689,C566440,,3645,Microphthalmia with brain and digit anomalies,Antenatal,Autosomal dominant
139474,17q11.2 microduplication syndrome,Malformation syndrome,Disorder,LD41.G0,0015350,Q92.3,618874,C3495679,,,,17q11.2 microduplication syndrome,"Infancy, Neonatal",Autosomal dominant
139477,Al-Gazali-Dattani syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1617,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion,Etiological subtype,Subtype of disorder,LD44.20,0015566,Q93.5,,C2931816,C538316,,3746,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion,"Antenatal, Neonatal",Not applicable
1606,1p36 deletion syndrome,Malformation syndrome,Disorder,LD44.11,0011929,Q93.5,607872,C1842870,C535362,10082398,6082,1p36 deletion syndrome,"Antenatal, Neonatal","Multigenic/multifactorial, Not applicable"
139480,Autosomal recessive spastic paraplegia type 39,Disease,Disorder,8B44.01,0012787,G11.4,612020,C2677586,C567433,,4924,Autosomal recessive spastic paraplegia type 39,Childhood,Autosomal recessive
1647,Oculocerebrocutaneous syndrome,Malformation syndrome,Disorder,LD20.Y,0008108,Q87.8,164180,C0796092,C538088,10088432,106,Oculocerebrocutaneous syndrome,Neonatal,Not applicable
139485,Autosomal recessive ataxia due to ubiquinone deficiency,Disease,Disorder,LD90.Y,0012784,G11.1,612016,C2677589,C567436,,10294,Autosomal recessive ataxia due to ubiquinone deficiency,Childhood,Autosomal recessive
139491,OBSOLETE: Hemochromatosis type 4,Disease,Disorder,,,,,,,,,,,
139498,NON RARE IN EUROPE: Hemochromatosis type 1,Disease,Disorder,,,,,,,,,,,
1653,Dentin dysplasia,Disease,Disorder,LA30.7,0015613,K00.5,125420,C0011430,D003805,,,Dentin dysplasia,All ages,Autosomal dominant
1651,OBSOLETE: Dennis-Cohen syndrome,Category,Group of disorders,,,,,,,,,,,
139507,Dietary iron overload disease,Disease,Disorder,5C64.10,0011012,E83.1,601195,C0268063,C537904,10083862,8495,Dietary iron overload disease,"Adult, Elderly",Not applicable
1654,OBSOLETE: Natal teeth-intestinal pseudoobstruction-patent ductus syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
139515,Charcot-Marie-Tooth disease type 4J,Disease,Disorder,8C20.0,0012640,G60.0,611228,C1970011,C566984,,,Charcot-Marie-Tooth disease type 4J,"Adult, Childhood, Infancy",Autosomal recessive
139512,Neuropathy with hearing impairment,Disease,Disorder,LD2H.1,0015351,G60.8,,C4509933,,,19919,Neuropathy with hearing impairment,Adult,Autosomal dominant
1657,"Dermatoosteolysis, Kirghizian type",Malformation syndrome,Disorder,LD27.0Y,0009095,Q82.8,221810,C1857301,C535373,,1814,"Dermatoosteolysis, Kirghizian type",Infancy,Autosomal recessive
139525,Distal hereditary motor neuropathy type 2,Disease,Disorder,8B61.4,0015352,G12.2,615575,,,,,Distal hereditary motor neuropathy type 2,"Adolescent, Adult",Autosomal dominant
1658,Absence of fingerprints-congenital milia syndrome,Disease,Disorder,LD27.0Y,0007507,Q82.8,129200,C4304581,,,2336,Absence of fingerprints-congenital milia syndrome,Childhood,Autosomal dominant
139518,Distal hereditary motor neuropathy type 1,Disease,Disorder,8B61.4,0008451,G12.2,182960,C1866784,C566675,,,Distal hereditary motor neuropathy type 1,"Adolescent, Adult, Childhood",Autosomal dominant
1659,Dermatoleukodystrophy,Disease,Disorder,,0009093,E75.2,221790,C1857314,C538220,,1813,Dermatoleukodystrophy,Neonatal,Autosomal recessive
139547,Distal spinal muscular atrophy type 3,Disease,Disorder,8B61.4,0011771,G12.2,607088,C1846823,C564626,,,Distal spinal muscular atrophy type 3,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
139536,Distal hereditary motor neuropathy type 5,Disease,Disorder,8B61.4,0100350,G12.2,619112,C1833308,C563443,,,Distal hereditary motor neuropathy type 5,"Adolescent, Adult, Childhood",Autosomal dominant
1660,Dermoodontodysplasia,Malformation syndrome,Disorder,LD27.0Y,0007449,Q82.4,125640,C1852144,C565103,,1816,Dermoodontodysplasia,Childhood,Autosomal dominant
139557,X-linked distal spinal muscular atrophy type 3,Disease,Disorder,,0010338,G12.2,300489,C1845359,C564506,,,X-linked distal spinal muscular atrophy type 3,"Adolescent, Adult, Childhood, Infancy",X-linked recessive
1661,X-linked corneal dermoid,Disease,Disorder,2F36.Y,0010579,Q13.4,304730,C1844671,C535376,,2580,X-linked corneal dermoid,Neonatal,X-linked recessive
1662,Restrictive dermopathy,Disease,Disorder,EE6Y,0031213,Q82.8,619793,C0406585,C536920,,1516,Restrictive dermopathy,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
139552,"Distal hereditary motor neuropathy, Jerash type",Disease,Disorder,8B61.4,0011585,G12.2,605726,C1854023,C535715,,10133,"Distal hereditary motor neuropathy, Jerash type",Childhood,Autosomal recessive
139573,Hereditary sensory and autonomic neuropathy with deafness and global delay,Disease,Disorder,8C21.Y,0015354,G60.8,,C4303566,,,19920,Hereditary sensory and autonomic neuropathy with deafness and global delay,"Childhood, Infancy",Autosomal recessive
1665,Sporadic fetal brain disruption sequence,Malformation syndrome,Disorder,,0015660,Q02,,C4706553,,,,Sporadic fetal brain disruption sequence,Antenatal,Not applicable
139564,Hereditary sensory and autonomic neuropathy type 1B,Disease,Disorder,8C21.0,0011961,G60.8,608088,C1842586,C564296,,,Hereditary sensory and autonomic neuropathy type 1B,Adult,Autosomal dominant
139583,X-linked hereditary sensory and autonomic neuropathy with deafness,Disease,Disorder,8C21.Y,0010378,G60.8,300614,C4304400,,,,X-linked hereditary sensory and autonomic neuropathy with deafness,Childhood,X-linked recessive
1667,Wolcott-Rallison syndrome,Disease,Disorder,5A13.6,0009192,Q87.1,226980,C0432217,C536739,10090582,5589,Wolcott-Rallison syndrome,"Infancy, Neonatal",Autosomal recessive
139578,Mutilating hereditary sensory neuropathy with spastic paraplegia,Disease,Disorder,,9748,G60.8,256840,C5679610,,,,Mutilating hereditary sensory neuropathy with spastic paraplegia,"Childhood, Infancy",Autosomal recessive
139589,Distal hereditary motor neuropathy type 7,Disease,Disorder,8B61.4,0015355,G12.2,607641,C4749653,,,,Distal hereditary motor neuropathy type 7,"Adolescent, Adult, Childhood",Autosomal dominant
1671,Split cord malformation type I,Morphological anomaly,Disorder,LA07.1,0009106,Q06.2,222500,C5566552,,10012750,1851,Split cord malformation type I,"Adolescent, Adult, Childhood, Infancy",
1674,Digitorenocerebral syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
140917,Stapes ankylosis with broad thumbs and toes,Malformation syndrome,Disorder,LD2F.1Y,0008484,Q87.8,184460,C1866656,,,,Stapes ankylosis with broad thumbs and toes,"Infancy, Neonatal",Autosomal dominant
1548,Cryptorchidism-arachnodactyly-intellectual disability syndrome,Malformation syndrome,Disorder,,0015473,Q87.8,,C4707233,,,860,Cryptorchidism-arachnodactyly-intellectual disability syndrome,"Infancy, Neonatal",
1547,Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,Malformation syndrome,Disorder,,0007409,Q87.8,123560,C1852454,C536219,,8174,Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,Neonatal,Autosomal dominant
140922,Titin-related limb-girdle muscular dystrophy R10,Disease,Disorder,,0012127,G71.0,608807,C1837342,C563854,,,Titin-related limb-girdle muscular dystrophy R10,"Adolescent, Adult, Childhood",Autosomal recessive
1545,Crisponi syndrome,Malformation syndrome,Disorder,LD26.41,0010091,G90.8,272430,C1832409,C536214,,,Crisponi syndrome,Neonatal,Autosomal recessive
140905,Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,Disease,Disorder,5C80.2,0013533,E78.4,614025,C3151466,,,12864,Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,No data available,Autosomal recessive
1540,Jackson-Weiss syndrome,Malformation syndrome,Disorder,LD24.GY,0007400,Q87.8,123150,C0795998,C537559,,6796,Jackson-Weiss syndrome,Neonatal,Autosomal dominant
1535,Craniosynostosis-dysmorphism-brachydactyly syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
140908,Brachydactyly type B2,Clinical subtype,Subtype of disorder,LD26.1,0012658,Q73.8,611377,C1969652,,,,Brachydactyly type B2,Neonatal,Autosomal dominant
1533,OBSOLETE: Craniosynostosis-fibular aplasia syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
140874,Joubert syndrome and related disorders,Category,Group of disorders,,0015369,,,C5679612,,,19931,Joubert syndrome and related disorders,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
140896,Severe acute respiratory syndrome,Disease,Disorder,1D65,0005091,U04,,C1175175,D045169,10061982,9237,Severe acute respiratory syndrome,All ages,Not applicable
1532,Gómez-López-Hernández syndrome,Malformation syndrome,Disorder,,0011157,Q07.8,601853,C0795959,C537285,,229,Gómez-López-Hernández syndrome,Neonatal,Not applicable
140952,Syndactyly-telecanthus-anogenital and renal malformations syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010408,Q87.8,300707,C2678045,C567475,,10295,Syndactyly-telecanthus-anogenital and renal malformations syndrome,"Infancy, Neonatal",X-linked dominant
140957,Autosomal dominant macrothrombocytopenia,Disease,Disorder,3B62.01,0015372,D69.1,615193,C4304021,,,,Autosomal dominant macrothrombocytopenia,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal dominant
140944,CLOVES syndrome,Malformation syndrome,Disorder,LD2C,0013038,Q87.3,612918,C2752042,C567863,,10939,CLOVES syndrome,"Infancy, Neonatal",Not applicable
140949,Low-flow priapism,Particular clinical situation in a disease or syndrome,Disorder,GB06.1,4745,N48.3,,C2711256,,,19933,Low-flow priapism,All ages,Not applicable
1555,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,Malformation syndrome,Disorder,LD27.0Y,0007412,Q87.8,123790,C1852406,C565129,,332,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,"Antenatal, Neonatal",Autosomal dominant
140936,Lelis syndrome,Malformation syndrome,Disorder,LD27.0Y,0012008,Q82.4,608290,C1842307,C564261,,10367,Lelis syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
140941,Short stature due to primary acid-labile subunit deficiency,Disease,Disorder,5A61.0,0014420,E34.3,615961,C4303612,,,,Short stature due to primary acid-labile subunit deficiency,"Infancy, Neonatal",Autosomal recessive
1553,Curry-Jones syndrome,Malformation syndrome,Disorder,,0011134,Q87.0,601707,C0795915,,,5584,Curry-Jones syndrome,Neonatal,Not applicable
140927,Self-limited neonatal-infantile epilepsy,Disease,Disorder,,11904,G40.4,607745,C5671283,,,1518,Self-limited neonatal-infantile epilepsy,"Infancy, Neonatal",Autosomal dominant
140933,Linear atrophoderma of Moulin,Disease,Disorder,EB61.Y,0015371,L90.8,,C1274753,,,19932,Linear atrophoderma of Moulin,Childhood,
140989,Primary angiitis of the central nervous system,Disease,Disorder,4A44.7,0015374,I67.7,,C2930862,C535276,,8703,Primary angiitis of the central nervous system,All ages,Not applicable
1566,Dandy-Walker malformation-postaxial polydactyly syndrome,Malformation syndrome,Disorder,,0009075,Q87.8,220220,C1857351,C535771,,1669,Dandy-Walker malformation-postaxial polydactyly syndrome,"Antenatal, Neonatal",Autosomal recessive
140976,RHYNS syndrome,Disease,Disorder,LD2F.1Y,0011202,Q87.8,602152,C1865794,C537612,,9681,RHYNS syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
1563,Dahlberg-Borer-Newcomer syndrome,Malformation syndrome,Disorder,LD27.0Y,0009533,Q87.8,247410,C1855477,C535769,,237,Dahlberg-Borer-Newcomer syndrome,Childhood,"Autosomal recessive, X-linked recessive"
140969,Saldino-Mainzer syndrome,Disease,Disorder,LD24.8Y,,Q87.5,615630,C1849437,C535463,10088468,8600,Saldino-Mainzer syndrome,Infancy,Autosomal recessive
140966,"Palmoplantar keratoderma, Nagashima type",Disease,Disorder,EC20.30,0014272,Q82.8,615598,C3810072,,,,"Palmoplantar keratoderma, Nagashima type","Childhood, Infancy",Autosomal recessive
1562,OBSOLETE: Dacryocystitis-osteopoikilosis syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
140963,Bilateral microtia-deafness-cleft palate syndrome,Malformation syndrome,Disorder,LD2H.Y,0012854,Q87.0,612290,C4303551,,,,Bilateral microtia-deafness-cleft palate syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
1557,Cutis verticis gyrata-intellectual disability syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
141046,Cervical dermoid cyst,Morphological anomaly,Disorder,DA05.Y,0015379,Q18.8,,C4706299,,,19937,,,
382,Guanidinoacetate methyltransferase deficiency,Disease,Disorder,5C53.4,0012999,E72.8,612736,C0574080,C537622,,2578,Guanidinoacetate methyltransferase deficiency,"Childhood, Infancy",Autosomal recessive
742,Prolidase deficiency,Disease,Disorder,5C50.F0,0008221,E72.8,170100,C0268532,D056732,,7473,Prolidase deficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
141037,Fourth branchial cleft anomaly,Morphological anomaly,Disorder,,0015378,Q18.0,,C3873490,,,19936,,,
141030,Third branchial cleft anomaly,Morphological anomaly,Disorder,,0015377,Q18.0,,C3874314,,,19935,,,
141022,Second branchial cleft anomaly,Morphological anomaly,Disorder,,0007233,Q18.0,113600,C3874315,,,,,,
1979,Lipodystrophy due to peptidic growth factors deficiency,Disease,Disorder,LD27.6Z,0009312,E88.1,233805,C2931279,,,,Lipodystrophy due to peptidic growth factors deficiency,Neonatal,Unknown
141013,First branchial cleft anomaly,Morphological anomaly,Disorder,LA6Y,0015376,Q18.0,,C3874320,,,19934,,,
1571,Knobloch syndrome,Malformation syndrome,Disorder,LD2F.1Y,,Q15.8,267750,C1849409,C537209,,380,Knobloch syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
141007,Orofaciodigital syndrome type 9,Malformation syndrome,Disorder,LD25.00,0009795,Q87.0,258865,C0796102,C557818,,10520,Orofaciodigital syndrome type 9,"Antenatal, Infancy, Neonatal",Autosomal recessive
1551,Familial benign copper deficiency,Disease,Disorder,5C64.0Y,0007368,E83.0,121270,C1852576,C535468,,1522,Familial benign copper deficiency,Infancy,
1568,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,Malformation syndrome,Disorder,LD90,,Q04.8,304340,C0796254,C535773,,8520,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,"Antenatal, Neonatal",X-linked recessive
141000,Orofaciodigital syndrome type 11,Malformation syndrome,Disorder,LD25.00,0013035,Q87.0,612913,C2752048,C557821,,4118,Orofaciodigital syndrome type 11,Neonatal,Not applicable
140997,Orofaciodigital syndrome,Clinical group,Group of disorders,LD25.00,0015375,,,C0029294,D009958,,10692,,,
1569,De Sanctis-Cacchione syndrome,Disease,Disorder,,,,278800,C0265201,C535992,,8276,,,
1499,OBSOLETE: Cortada-Koussef-Matsumoto syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
140432,OBSOLETE: Hereditary iron overload with anemia,Category,Group of disorders,,,,,,,,,,,
1497,X-linked complicated corpus callosum dysgenesis,Clinical subtype,Subtype of disorder,LD20.Y,0010569,Q04.8,304100,C1839909,,,,X-linked complicated corpus callosum dysgenesis,"Antenatal, Neonatal",X-linked recessive
140436,Familial intraosseous vascular malformation,Disease,Disorder,,0011744,D18.0,606893,C1847197,C564648,,,Familial intraosseous vascular malformation,,Autosomal recessive
140450,OBSOLETE: Hereditary motor and sensory neuropathy,Category,Group of disorders,,,,,,,,,,,
140453,Autosomal dominant hereditary demyelinating motor and sensory neuropathy,Category,Group of disorders,,,,,C5680673,,,19923,Autosomal dominant hereditary demyelinating motor and sensory neuropathy,,Autosomal dominant
1493,Vici syndrome,Malformation syndrome,Disorder,4A01.1Y,0009452,Q87.8,242840,C1855772,C535566,,448,Vici syndrome,"Antenatal, Neonatal",Autosomal recessive
140286,Secondary hypoparathyroidism due to impaired parathormon secretion,Disease,Disorder,5A50.01,0015357,E20.8,,C4305428,,,19922,Secondary hypoparathyroidism due to impaired parathormon secretion,"Adolescent, Adult, Childhood, Elderly",Not applicable
1495,Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,Malformation syndrome,Disorder,,0015458,Q87.8,,C4302530,,,12487,Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,Neonatal,Autosomal recessive
140428,OBSOLETE: Hereditary iron overload with neurologic manifestation,Category,Group of disorders,,,,,,,,,,,
140468,Autosomal recessive distal hereditary motor neuropathy,Category,Group of disorders,,0015363,,607088,C5548369,,,19927,Autosomal recessive distal hereditary motor neuropathy,,Autosomal recessive
1509,Coxopodopatellar syndrome,Disease,Disorder,LD24.JY,0007841,Q74.1,147891,C1840061,C535540,10086423,3030,Coxopodopatellar syndrome,"Infancy, Neonatal",Autosomal dominant
140471,Hereditary sensory and autonomic neuropathy,Clinical group,Group of disorders,8C21,0015364,,,C0027889,D009477,,12688,,,
1512,Crane-Heise syndrome,Malformation syndrome,Disorder,,0009028,Q87.5,218090,C1857532,C536452,,8428,Crane-Heise syndrome,"Antenatal, Neonatal",Autosomal recessive
140474,Autosomal dominant hereditary sensory and autonomic neuropathy,Category,Group of disorders,,,,,C5680674,,,19928,Autosomal dominant hereditary sensory and autonomic neuropathy,,Autosomal dominant
140477,Autosomal recessive hereditary sensory and autonomic neuropathy,Category,Group of disorders,,,,,C5680675,,,19929,Autosomal recessive hereditary sensory and autonomic neuropathy,,Autosomal recessive
1506,Thin ribs-tubular bones-dysmorphism syndrome,Malformation syndrome,Disorder,LD24.D,0015462,Q87.5,,C2931543,C537595,,,Thin ribs-tubular bones-dysmorphism syndrome,Neonatal,
140456,Autosomal dominant hereditary axonal motor and sensory neuropathy,Category,Group of disorders,,,,,C5680676,,,19924,Autosomal dominant hereditary axonal motor and sensory neuropathy,,Autosomal dominant
140459,Autosomal recessive hereditary demyelinating motor and sensory neuropathy,Category,Group of disorders,,,,,C5680677,,,,Autosomal recessive hereditary demyelinating motor and sensory neuropathy,,Autosomal recessive
140462,OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy,Category,Group of disorders,,,,,,,,,,,
1508,Coxoauricular syndrome,Malformation syndrome,Disorder,LD24.E,0007392,Q87.1,122780,C1852513,C565148,,1558,Coxoauricular syndrome,Neonatal,Unknown
140465,Autosomal dominant distal hereditary motor neuropathy,Category,Group of disorders,,0015362,,,C5548212,,,19926,Autosomal dominant distal hereditary motor neuropathy,,Autosomal dominant
1507,Autosomal recessive Robinow syndrome,Clinical subtype,Subtype of disorder,LD24.A,0009999,Q87.1,268310,C1849334,C535863,,,Autosomal recessive Robinow syndrome,"Infancy, Neonatal",Autosomal recessive
1517,Cantú syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009406,Q78.8,239850,C0795905,C535572,,8585,Cantú syndrome,Neonatal,"Autosomal dominant, Not applicable"
140503,OBSOLETE: Channelopathy,Category,Group of disorders,,,,,,,,,,,
1519,SPECC1L-related hypertelorism syndrome,Malformation syndrome,Disorder,,0800025,Q87.0,145420,C0796179,,,957,SPECC1L-related hypertelorism syndrome,Neonatal,Autosomal dominant
1520,Craniofrontonasal dysplasia,Malformation syndrome,Disorder,LD25.3,0010570,Q87.1,304110,C0220767,C536456,,1578,Craniofrontonasal dysplasia,"Antenatal, Neonatal",X-linked dominant
1513,Craniodiaphyseal dysplasia,Malformation syndrome,Disorder,LD24.1Y,0009031,M85.2,218300,C0410539,C562940,,1567,Craniodiaphyseal dysplasia,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable"
1514,Craniodigital-intellectual disability syndrome,Malformation syndrome,Disorder,,0015463,Q87.0,312860,C1839311,C537528,,4776,Craniodigital-intellectual disability syndrome,Neonatal,"Autosomal recessive, X-linked recessive"
140481,Autosomal dominant slowed nerve conduction velocity,Disease,Disorder,,0011998,G60.0,608236,C1842357,C564269,,,Autosomal dominant slowed nerve conduction velocity,Adult,Autosomal dominant
140500,OBSOLETE: Neurological channelopathy,Category,Group of disorders,,,,,,,,,,,
1515,Cranioectodermal dysplasia,Malformation syndrome,Disorder,LD27.0Y,0009032,Q87.5,614378,C4551571,,,359,Cranioectodermal dysplasia,"Antenatal, Neonatal",Autosomal recessive
1516,Non-syndromic bilambdoid and sagittal craniosynostosis,Malformation syndrome,Disorder,,,Q87.0,218350,C1857511,C536455,,1575,Non-syndromic bilambdoid and sagittal craniosynostosis,Neonatal,Autosomal recessive
1526,OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1527,"Craniosynostosis, Philadelphia type",Malformation syndrome,Disorder,LD24.GY,0015467,Q87.0,185900,C1832590,C563368,,1601,"Craniosynostosis, Philadelphia type",Neonatal,Autosomal dominant
140653,Neuro-ophthalmological disease,Category,Group of disorders,,,,,C5680678,,,19930,,,
1528,Craniotelencephalic dysplasia,Malformation syndrome,Disorder,LD20.1,0009042,Q04.3,218670,C1857471,C535597,,1605,Craniotelencephalic dysplasia,Neonatal,
1529,Craniofacial-deafness-hand syndrome,Malformation syndrome,Disorder,LD2H.Y,0007395,Q87.0,122880,C1852510,C536453,,1571,Craniofacial-deafness-hand syndrome,Neonatal,Autosomal dominant
1521,Craniofrontonasal dysplasia-Poland anomaly syndrome,Malformation syndrome,Disorder,,0015464,Q87.8,,C4303859,,,,Craniofrontonasal dysplasia-Poland anomaly syndrome,Neonatal,Unknown
1522,Craniometaphyseal dysplasia,Malformation syndrome,Disorder,LD24.1Y,0015465,Q78.8,218400,C0265292,,,,Craniometaphyseal dysplasia,Childhood,"Autosomal dominant, Autosomal recessive"
1525,Cranio-osteoarthropathy,Malformation syndrome,Disorder,FB86.10,0015466,M89.4,259100,C2678439,,,1564,Cranio-osteoarthropathy,Childhood,Autosomal recessive
1969,Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,Malformation syndrome,Disorder,,0016031,Q87.0,,C2931183,C536384,,2221,Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,No data available,Unknown
1968,Flat face-microstomia-ear anomaly syndrome,Malformation syndrome,Disorder,,0008421,Q87.0,182150,C1866962,C537339,,4873,Flat face-microstomia-ear anomaly syndrome,Neonatal,Unknown
1970,Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,Malformation syndrome,Disorder,,0009074,Q87.8,220219,C4518773,,,,Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,Neonatal,Autosomal recessive
1973,Faciocardiorenal syndrome,Malformation syndrome,Disorder,,0009205,Q87.8,227280,C0795936,C536388,,2230,Faciocardiorenal syndrome,Neonatal,Autosomal recessive
1972,Lethal faciocardiomelic dysplasia,Malformation syndrome,Disorder,,0009204,Q87.8,227270,C1856891,C565578,,2229,Lethal faciocardiomelic dysplasia,Neonatal,Autosomal recessive
1974,Autosomal recessive faciodigitogenital syndrome,Malformation syndrome,Disorder,,0009209,Q87.8,227330,C1856871,,,,Autosomal recessive faciodigitogenital syndrome,Neonatal,Autosomal recessive
1962,Exostoses-anetodermia-brachydactyly type E syndrome,Malformation syndrome,Disorder,LD24.21,0007584,Q87.5,133690,C4518772,,,,Exostoses-anetodermia-brachydactyly type E syndrome,Neonatal,Unknown
1964,Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,Malformation syndrome,Disorder,,0007588,Q87.1,133750,C4749763,,,2213,Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,Neonatal,Autosomal dominant
1822,Dysplasia epiphysealis hemimelica,Malformation syndrome,Disorder,LD24.2Y,0007489,Q74.8,127800,C0432282,C537997,,2019,Dysplasia epiphysealis hemimelica,"Adolescent, Childhood",Autosomal dominant
1824,Lowry-Wood syndrome,Disease,Disorder,LD24.6Y,0009191,Q87.5,226960,C0796021,C537038,10062600,264,Lowry-Wood syndrome,Neonatal,Autosomal recessive
1952,Epiphyseal stippling-osteoclastic hyperplasia syndrome,Malformation syndrome,Disorder,FB86.2,0008175,Q77.8,167220,C1833676,C538095,,4189,Epiphyseal stippling-osteoclastic hyperplasia syndrome,"Antenatal, Neonatal",Autosomal recessive
1954,Congenital lethal erythroderma,Disease,Disorder,,0009198,Q82.8,227090,C1856898,C535513,,,Congenital lethal erythroderma,Neonatal,Autosomal recessive
1955,Spinocerebellar ataxia type 34,Disease,Disorder,8A03.16,0007574,G11.1,133190,C1851481,C535738,,59,Spinocerebellar ataxia type 34,"Adolescent, Adult, Neonatal",Autosomal dominant
1956,OBSOLETE: Erythromelalgia,Disease,Disorder,,,,,,,,,,,
1926,Diabetic embryopathy,Malformation syndrome,Disorder,KB60.1,0016018,P00.4,,C3830518,,,,Diabetic embryopathy,"Antenatal, Neonatal",Not applicable
2209,Maternal phenylketonuria syndrome,Malformation syndrome,Disorder,5C50.02,0016366,E70.1,261600,C0085547,D017042,,3413,Maternal phenylketonuria syndrome,"Antenatal, Neonatal",Autosomal recessive
1927,Emery-Nelson syndrome,Malformation syndrome,Disorder,,0007696,Q87.8,139750,C4751229,,,2593,Emery-Nelson syndrome,"Infancy, Neonatal",
1937,Eng-Strom syndrome,Malformation syndrome,Disorder,,0007618,Q87.1,135950,C4512073,,,,Eng-Strom syndrome,Antenatal,Autosomal dominant
1940,Shoulder and thorax deformity-congenital heart disease syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1920,Toluene embryopathy,Malformation syndrome,Disorder,LD2F.0Y,0016016,Q86.8,,C2931737,,,,Toluene embryopathy,"Antenatal, Neonatal",Not applicable
1919,Phenobarbital embryopathy,Malformation syndrome,Disorder,LD2F.0Y,0016015,Q86.8,,C4275281,,,4315,Phenobarbital embryopathy,"Antenatal, Neonatal",Not applicable
1917,Fetal methylmercury syndrome,Malformation syndrome,Disorder,LD2F.0Y,0016013,T56.1,,C0265376,,,3575,Fetal methylmercury syndrome,"Antenatal, Neonatal",Not applicable
1923,Methimazole embryofetopathy,Malformation syndrome,Disorder,LD2F.0Y,0016017,Q86.8,,C4510379,,,3573,Methimazole embryofetopathy,"Antenatal, Neonatal",Not applicable
1912,Fetal hydantoin syndrome,Malformation syndrome,Disorder,LA07.1,0016008,Q86.1,,C0265372,C537922,10016508,6435,Fetal hydantoin syndrome,"Antenatal, Neonatal",Not applicable
1918,Fetal minoxidil syndrome,Malformation syndrome,Disorder,LD2F.0Y,0016014,Q86.8,,C0432373,,,2308,Fetal minoxidil syndrome,"Antenatal, Neonatal",Not applicable
1911,Cocaine embryofetopathy,Malformation syndrome,Disorder,LD2F.0Y,0016007,Q86.8,,C0432371,,,1413,Cocaine embryofetopathy,"Antenatal, Neonatal",Not applicable
1910,Fetal iodine syndrome,Malformation syndrome,Disorder,5A00.03,0009224,P72.2,228355,C4273860,,,2304,Fetal iodine syndrome,"Antenatal, Neonatal",Not applicable
1916,Diethylstilbestrol syndrome,Malformation syndrome,Disorder,LB44.6,0016012,Q86.8,,C0853695,,10012780,1859,Diethylstilbestrol syndrome,All ages,Not applicable
294,Fetal cytomegalovirus syndrome,Disease,Disorder,KA62.3,0017409,P35.1,,C0349499,,,1480,Fetal cytomegalovirus syndrome,"Antenatal, Neonatal",Not applicable
1914,Vitamin K antagonist embryofetopathy,Malformation syndrome,Disorder,LD2F.02,0016010,Q86.2,,C0265374,C536683,10051445,8580,Vitamin K antagonist embryofetopathy,"Antenatal, Neonatal",Not applicable
1913,Fetal trimethadione syndrome,Malformation syndrome,Disorder,LD2F.0Y,0016009,Q86.8,,C0265373,C537798,,,Fetal trimethadione syndrome,"Antenatal, Neonatal",Not applicable
1896,EEC syndrome,Malformation syndrome,Disorder,LD27.0Y,0010004,Q82.4,604292,C0406704,C536189,,2076,EEC syndrome,"Antenatal, Neonatal",Autosomal dominant
1897,EEM syndrome,Malformation syndrome,Disorder,LD27.0Y,0009155,Q87.8,225280,C1857041,C536190,,2078,EEM syndrome,Neonatal,Autosomal recessive
1908,Aminopterin/methotrexate embryofetopathy,Malformation syndrome,Disorder,LD2F.0Y,0016004,Q86.8,,C0432367,,10071183,2294,Aminopterin/methotrexate embryofetopathy,"Antenatal, Neonatal",Not applicable
1909,Indomethacin embryofetopathy,Malformation syndrome,Disorder,LD2F.0Y,0016005,Q86.8,,C4275138,,,,Indomethacin embryofetopathy,"Antenatal, Neonatal",Not applicable
1906,Fetal valproate spectrum disorder,Malformation syndrome,Disorder,LD2F.03,0012275,Q86.8,609442,C0236026,C536525,10016524,5447,Fetal valproate spectrum disorder,"Antenatal, Childhood, Infancy, Neonatal",Not applicable
1888,Ectrodactyly-ectodermal dysplasia without clefting syndrome,Malformation syndrome,Disorder,,,,129810,C1851849,,,,,,
1889,Ectrodactyly-cleft palate syndrome,Malformation syndrome,Disorder,,,,129830,C1851848,,,,,,
1895,Edinburgh malformation syndrome,Malformation syndrome,Disorder,,0007519,Q95.2,129850,C0795933,C563051,,2074,Edinburgh malformation syndrome,Neonatal,Unknown
1891,Intellectual disability-spasticity-ectrodactyly syndrome,Malformation syndrome,Disorder,,0009524,Q87.2,246555,C0796001,C537446,,3523,Intellectual disability-spasticity-ectrodactyly syndrome,"Infancy, Neonatal",
1892,Ectrodactyly-polydactyly syndrome,Malformation syndrome,Disorder,,0009156,Q73.8,225290,C4749762,,,2068,Ectrodactyly-polydactyly syndrome,Antenatal,
1816,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,Malformation syndrome,Disorder,LD27.0Y,0009522,Q82.4,246500,C0406729,,,2044,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,Neonatal,Autosomal recessive
1807,Focal facial dermal dysplasia type III,Clinical subtype,Subtype of disorder,LD27.0Y,0009203,Q82.8,227260,C1744559,C536385,,121,Focal facial dermal dysplasia type III,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
1818,"Ectodermal dysplasia, trichoodontoonychial type",Malformation syndrome,Disorder,LD27.0Y,0007511,Q82.4,129510,C1851858,C565068,,2055,"Ectodermal dysplasia, trichoodontoonychial type","Antenatal, Infancy, Neonatal",
1883,Ectodermal dysplasia-sensorineural deafness syndrome,Malformation syndrome,Disorder,LD27.0Y,0009146,Q82.4,224800,C4518541,,,9723,Ectodermal dysplasia-sensorineural deafness syndrome,"Childhood, Infancy",Autosomal recessive
1882,Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,Malformation syndrome,Disorder,LD27.02,0009150,Q82.4,225050,C1857052,C565604,,2049,Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,Childhood,Autosomal recessive
1875,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,Disease,Disorder,8C70.6,0009680,G71.0,254000,C2931578,C537661,,835,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,Neonatal,Autosomal recessive
1873,Jalili syndrome,Malformation syndrome,Disorder,LA30.6,0009007,H35.5,217080,C3495589,C000596385,,1463,Jalili syndrome,Childhood,Autosomal recessive
1879,Melorheostosis with osteopoikilosis,Malformation syndrome,Disorder,LD24.1Y,0015995,M85.8,166700,C3149695,C563593,,3690,Melorheostosis with osteopoikilosis,All ages,Autosomal dominant
1867,"Hereditary bullous dystrophy, macular type",Disease,Disorder,,0010540,Q81.8,302000,C0795974,C563065,,1038,"Hereditary bullous dystrophy, macular type",Neonatal,X-linked recessive
1872,Cone rod dystrophy,Disease,Disorder,9B70,0015993,H35.5,616502,C4085590,D000071700,10085521,10790,Cone rod dystrophy,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive, X-linked recessive"
1871,Progressive cone dystrophy,Disease,Disorder,9B70,,H35.5,613093,C3665342,,10083940,11897,Progressive cone dystrophy,Adult,"Autosomal dominant, Autosomal recessive"
1860,Thanatophoric dysplasia type 1,Clinical subtype,Subtype of disorder,LD24.02,0008546,Q77.1,187600,C1868678,C566844,,9295,Thanatophoric dysplasia type 1,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
1861,Thoracic dysplasia-hydrocephalus syndrome,Malformation syndrome,Disorder,,0010115,Q87.8,273730,C1848864,C564774,,5180,Thoracic dysplasia-hydrocephalus syndrome,Antenatal,
1865,"Dyssegmental dysplasia, Silverman-Handmaker type",Disease,Disorder,LD24.3,0009140,Q77.7,224410,C1857100,C537998,,2026,"Dyssegmental dysplasia, Silverman-Handmaker type","Antenatal, Neonatal",Autosomal recessive
1858,Skeletal dysplasia-epilepsy-short stature syndrome,Malformation syndrome,Disorder,LD24.8Y,0011011,Q87.5,601187,C0796046,C537625,,350,Skeletal dysplasia-epilepsy-short stature syndrome,Neonatal,
254,Spondylometaphyseal dysplasia,Clinical group,Group of disorders,LD24.4,0016763,,,C4759767,,,,Spondylometaphyseal dysplasia,Infancy,"Autosomal dominant, Autosomal recessive, X-linked recessive"
1850,Renal dysplasia-megalocystis-sirenomelia syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1852,OBSOLETE: X-linked retinal dysplasia,Disease,Disorder,,,,,,,,,OBSOLETE: X-linked retinal dysplasia,Childhood,
1842,"Bone dysplasia, lethal Holmgren type",Malformation syndrome,Disorder,FB82.Y,0008878,Q77.8,211120,C1859407,C565896,,922,"Bone dysplasia, lethal Holmgren type","Antenatal, Neonatal",Autosomal recessive
1839,Hereditary mucoepithelial dysplasia,Malformation syndrome,Disorder,DA02.0,0008017,K13.7,158310,C1274795,C536476,,5427,Hereditary mucoepithelial dysplasia,Childhood,Autosomal dominant
1838,Metaphyseal dysplasia without hypotrichosis,Disease,Disorder,,,,250460,C1834821,,,10622,,,
1837,"Metaphyseal chondrodysplasia, Rosenberg type",Disease,Disorder,LD24.7,0008619,Q78.5,191420,C1860615,C536935,,4740,"Metaphyseal chondrodysplasia, Rosenberg type",Adolescent,
1836,"Mesomelic dysplasia, Kantaputra type",Malformation syndrome,Disorder,LD24.A,0007977,Q78.8,613681,C1835009,C535547,,3074,"Mesomelic dysplasia, Kantaputra type",Neonatal,Autosomal dominant
1834,Axial mesodermal dysplasia spectrum,Malformation syndrome,Disorder,,0015944,Q87.8,,C2931613,C537790,,213,Axial mesodermal dysplasia spectrum,Antenatal,
1831,De Hauwere syndrome,Malformation syndrome,Disorder,,,,109120,C2930925,C535537,,,,,
1830,Schimke immuno-osseous dysplasia,Disease,Disorder,4A01.32,0009458,Q77.7,242900,C0877024,C536629,10048699,4984,Schimke immuno-osseous dysplasia,"Antenatal, Infancy, Neonatal",Autosomal recessive
1825,Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,Malformation syndrome,Disorder,,0015941,Q87.0,,C4707857,,,2178,Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,Neonatal,
251,Multiple epiphyseal dysplasia,Clinical group,Group of disorders,LD24.61,0016648,,,C0026760,,10028197,10756,Multiple epiphyseal dysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
1823,OBSOLETE: Localized epiphyseal dysplasia,Malformation syndrome,Disorder,,,,,,,,,,,
1811,Odontomicronychial dysplasia,Malformation syndrome,Disorder,,0011034,Q84.8,601319,C1832473,C537741,,4053,Odontomicronychial dysplasia,Childhood,Autosomal recessive
1812,Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,Malformation syndrome,Disorder,LD27.0Y,0009149,Q87.8,225040,C4518334,,,,Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,"Antenatal, Neonatal",X-linked recessive
1808,"Hidrotic ectodermal dysplasia, Christianson-Fourie type",Malformation syndrome,Disorder,LD27.0Y,0011063,Q82.8,601375,C1832411,C536180,,2682,"Hidrotic ectodermal dysplasia, Christianson-Fourie type","Infancy, Neonatal",Autosomal dominant
1809,"Hidrotic ectodermal dysplasia, Halal type",Malformation syndrome,Disorder,LD27.0Y,0015883,Q82.8,,C2930953,C535621,,280,"Hidrotic ectodermal dysplasia, Halal type","Infancy, Neonatal",Autosomal recessive
1804,Dyssegmental dysplasia-glaucoma syndrome,Malformation syndrome,Disorder,,,,601561,C1832111,,,,,,
1806,Ectodermal dysplasia-blindness syndrome,Malformation syndrome,Disorder,LD27.0Y,0010001,Q87.8,268320,C4302546,,,2045,Ectodermal dysplasia-blindness syndrome,Neonatal,Autosomal recessive
1802,Ghosal hematodiaphyseal dysplasia,Malformation syndrome,Disorder,LD24.1Y,0009274,Q78.8,231095,C1856465,C565551,,10297,Ghosal hematodiaphyseal dysplasia,"Infancy, Neonatal",Autosomal recessive
1803,Thoracomelic dysplasia,Disease,Disorder,LD24.BY,0010116,Q77.2,273740,C1848863,C564773,,,Thoracomelic dysplasia,Infancy,
1800,OBSOLETE: Craniofaciocervical osteoglyphic dysplasia,Malformation syndrome,Disorder,,,,,,,,,,,
1801,Kyphomelic dysplasia,Malformation syndrome,Disorder,LD24.C,0008881,Q79.8,211350,C0432239,C538128,,10149,Kyphomelic dysplasia,"Antenatal, Neonatal",
1798,Craniofacial dysostosis-diaphyseal hyperplasia syndrome,Malformation syndrome,Disorder,LD24.1Y,0007396,Q78.8,122900,C0432263,C562974,,2016,Craniofacial dysostosis-diaphyseal hyperplasia syndrome,Neonatal,Autosomal dominant
1799,Familial developmental dysphasia,Clinical syndrome,Disorder,,0010821,F80.1,600117,C1838630,C563997,,1823,Familial developmental dysphasia,Childhood,Autosomal dominant
1794,Oculomaxillofacial dysostosis,Malformation syndrome,Disorder,LD25.3,0015824,Q75.1,,C1838348,C537736,,4046,Oculomaxillofacial dysostosis,Neonatal,
2128,Isolated hemihyperplasia,Morphological anomaly,Disorder,LD2C,0009331,Q87.3,235000,C1856184,C565524,10019463,2630,Isolated hemihyperplasia,"Adolescent, Childhood, Infancy",Autosomal dominant
2129,OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2130,Non-syndromic hemimelia,Clinical group,Group of disorders,,0016240,,,C5925000,,10019464,,Non-syndromic hemimelia,Neonatal,Not applicable
2136,Hennekam syndrome,Malformation syndrome,Disorder,BD93.0,0016256,Q87.8,618154,C0340834,C537255,,3318,Hennekam syndrome,Childhood,Autosomal recessive
2138,"46,XX ovotesticular difference of sex development",Malformation syndrome,Disorder,LD2A.Y,0016281,Q56.0,618901,C5679613,D050090,,,"46,XX ovotesticular difference of sex development","Adolescent, Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
2139,Hernández-Aguirre Negrete syndrome,Malformation syndrome,Disorder,,0016290,Q87.8,,C2931736,C538112,,,Hernández-Aguirre Negrete syndrome,Childhood,Autosomal recessive
2141,Diaphragmatic defect-limb deficiency-skull defect syndrome,Malformation syndrome,Disorder,,0011007,Q87.8,601163,C4303589,,,2397,Diaphragmatic defect-limb deficiency-skull defect syndrome,Antenatal,Unknown
2143,Donnai-Barrow syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009104,Q87.8,222448,C1857277,C536390,,1899,Donnai-Barrow syndrome,"Antenatal, Neonatal",Autosomal recessive
2145,"Craniosynostosis, Herrmann-Opitz type",Malformation syndrome,Disorder,LD24.GY,0016291,Q75.0,,C4706536,,,,"Craniosynostosis, Herrmann-Opitz type",Antenatal,
2149,Nodular neuronal heterotopia,Morphological anomaly,Disorder,LA05.5Y,0016292,Q04.8,617201,C5680679,,,,Nodular neuronal heterotopia,All ages,"Autosomal dominant, Autosomal recessive, X-linked dominant"
2148,Lissencephaly type 1 due to doublecortin gene mutation,Disease,Disorder,LD20.1,0010239,Q04.3,300067,C4275012,,,6914,Lissencephaly type 1 due to doublecortin gene mutation,"Adolescent, Childhood, Infancy, Neonatal",X-linked recessive
158048,Hemophagocytic syndrome associated with an infection,Particular clinical situation in a disease or syndrome,Disorder,3B62.5,,D76.2,,C5207031,,,7857,Hemophagocytic syndrome associated with an infection,All ages,
158057,Acquired hemophagocytic lymphohistiocytosis associated with malignant disease,Particular clinical situation in a disease or syndrome,Disorder,3B62.Y,0015544,D76.1,,C5190710,,,,Acquired hemophagocytic lymphohistiocytosis associated with malignant disease,All ages,
2108,Hallermann-Streiff syndrome,Malformation syndrome,Disorder,LD2B,0009318,Q87.0,234100,C0018522,D006210,,288,Hallermann-Streiff syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
158061,Macrophage activation syndrome,Clinical syndrome,Disorder,4A01.2Y,0015545,D76.1,,C1096155,D055501,10053867,12124,Macrophage activation syndrome,"Adolescent, Adult, Childhood",
2107,Hall-Riggs syndrome,Malformation syndrome,Disorder,,0009320,Q87.8,234250,C1856198,,,2586,Hall-Riggs syndrome,Neonatal,Autosomal recessive
2110,Hallux varus-preaxial polysyndactyly syndrome,Malformation syndrome,Disorder,,0009321,Q74.2,234280,C1856197,C536885,,3118,Hallux varus-preaxial polysyndactyly syndrome,Neonatal,
2109,Hallermann-Streiff-like syndrome,Malformation syndrome,Disorder,,0022851,Q87.0,,C2931775,C538210,,,Hallermann-Streiff-like syndrome,"Antenatal, Neonatal",
2112,OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2111,Cystic hamartoma of lung and kidney,Disease,Disorder,2F00.Y,0023275,Q85.8,,C2931468,C537292,,2557,Cystic hamartoma of lung and kidney,Infancy,Unknown
158124,Genetic dementia,Category,Group of disorders,,,,,C5680680,,,,,,
158266,Huntington disease-like syndrome,Clinical group,Group of disorders,,0015548,,,C3711380,C580174,,,,,
2115,Harrod syndrome,Malformation syndrome,Disorder,,0010993,Q87.8,601095,C0795970,C535635,,2601,Harrod syndrome,"Infancy, Neonatal",
158300,Rare genetic hematologic disease,Category,Group of disorders,,,,,C5680681,,,,,,
2114,"Hip dysplasia, Beukes type",Disease,Disorder,LD24.6Y,0007726,Q65.8,142669,C1840572,C564185,,2690,"Hip dysplasia, Beukes type",Childhood,Autosomal dominant
2994,Short stature-craniofacial anomalies-genital hypoplasia syndrome,Malformation syndrome,Disorder,,0008335,Q87.8,177980,C1867443,C535844,,2605,Short stature-craniofacial anomalies-genital hypoplasia syndrome,"Infancy, Neonatal",
2117,Hartsfield syndrome,Malformation syndrome,Disorder,,0014196,Q87.8,615465,C1845146,C564484,,2725,Hartsfield syndrome,Antenatal,"Autosomal dominant, Autosomal recessive"
2120,OBSOLETE: Heckenlively syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2119,HEC syndrome,Malformation syndrome,Disorder,BC43.3,0010901,Q87.8,600559,C1833607,C535855,,2620,HEC syndrome,Neonatal,Unknown
2124,Cavernous hemangiomas of face-supraumbilical midline raphe syndrome,Malformation syndrome,Disorder,,,,,C0472694,,,,,,
2123,Multifocal infantile hemangioma with extracutenous involvement,Disease,Disorder,2E81.2Y,0016237,Q82.8,,C0474965,,,1861,Multifocal infantile hemangioma with extracutenous involvement,Neonatal,Not applicable
157997,Benign cephalic histiocytosis,Disease,Disorder,EE81,0015533,D76.3,,C0347403,,,,Benign cephalic histiocytosis,Infancy,Not applicable
2090,GMS syndrome,Malformation syndrome,Disorder,,0007679,Q87.8,138770,C1841854,C564214,,2523,GMS syndrome,Neonatal,
2091,Multinodular goiter-cystic kidney-polydactyly syndrome,Malformation syndrome,Disorder,,0007680,Q87.8,138790,C1841853,C535986,,1671,Multinodular goiter-cystic kidney-polydactyly syndrome,"Antenatal, Neonatal",Autosomal dominant
157991,Generalized eruptive histiocytosis,Disease,Disorder,EE81,0015532,D76.3,,C0347404,,,,Generalized eruptive histiocytosis,"Adolescent, Adult, Childhood, Elderly",Not applicable
157987,Non-Langerhans cell histiocytosis,Clinical group,Group of disorders,,0015531,,,C0019624,D015616,,8231,,,
2087,Glomerulonephritis-sparse hair-telangiectasis syndrome,Malformation syndrome,Disorder,,,,,C1841989,C536825,,,,,
158011,Necrobiotic xanthogranuloma,Disease,Disorder,EE8Y,0015537,D76.3,,C1275339,D058252,,10951,Necrobiotic xanthogranuloma,,Not applicable
158008,Papular xanthoma,Disease,Disorder,EE81,0015536,D76.3,,C4707373,,,,Papular xanthoma,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
376,Gordon syndrome,Malformation syndrome,Disorder,LD26.4Y,0007252,Q68.8,114300,C0220666,C537288,,2553,Gordon syndrome,"Antenatal, Neonatal",Autosomal dominant
158003,Xanthoma disseminatum,Disease,Disorder,EE81,0015535,D76.3,,C0043322,,10052575,13186,Xanthoma disseminatum,"Adolescent, Adult, Childhood",Not applicable
2092,Focal dermal hypoplasia,Malformation syndrome,Disorder,LD27.0Y,0010592,Q82.8,305600,C0016395,D005489,,6457,Focal dermal hypoplasia,"Antenatal, Neonatal",X-linked dominant
158000,Juvenile xanthogranuloma,Disease,Disorder,2B31.0,0015534,D76.3,,C0043324,D014972,10089466,,Juvenile xanthogranuloma,"Adolescent, Childhood, Infancy, Neonatal",Not applicable
2098,"Acromesomelic dysplasia, Grebe type",Malformation syndrome,Disorder,LD24.9,0008703,Q78.8,200700,C0265260,C537915,,1300,"Acromesomelic dysplasia, Grebe type","Antenatal, Neonatal",Autosomal recessive
158025,Hereditary progressive mucinous histiocytosis,Disease,Disorder,EE8Y,0007725,D76.3,142630,C4749819,,,,Hereditary progressive mucinous histiocytosis,Childhood,Autosomal dominant
158022,Progressive nodular histiocytosis,Disease,Disorder,EE81,0015539,D76.3,,C4707331,,,,Progressive nodular histiocytosis,"Adolescent, Adult, Childhood",Not applicable
380,Greig cephalopolysyndactyly syndrome,Malformation syndrome,Disorder,LD26.2,0008287,Q87.0,175700,C0265306,C537300,10053878,6550,Greig cephalopolysyndactyly syndrome,Antenatal,Autosomal dominant
2095,Gorlin-Chaudhry-Moss syndrome,Clinical subtype,Subtype of disorder,LD27.0Y,,Q87.0,612289,C5848089,,,66,Gorlin-Chaudhry-Moss syndrome,Neonatal,Autosomal recessive
158019,Indeterminate cell histiocytosis,Disease,Disorder,2B31.6,0015538,C96.4,,C2825741,,,,Indeterminate cell histiocytosis,,Not applicable
158014,Rosaï-Dorfman disease,Disease,Disorder,EK92,0006412,D76.3,,C5848165,D015618,10063397,7588,Rosaï-Dorfman disease,"Adolescent, Adult",
2097,Grant syndrome,Malformation syndrome,Disorder,LD24.KY,0007683,Q87.5,138930,C1841835,C537293,,2559,Grant syndrome,Neonatal,Unknown
158041,Secondary hemophagocytic lymphohistiocytosis,Category,Group of disorders,3B62.Y,0015542,,,C0019068,,,,,,
2101,Grubben-de Cock-Borghgraef syndrome,Malformation syndrome,Disorder,,0009313,Q87.8,233810,C2931551,C537621,,2576,Grubben-de Cock-Borghgraef syndrome,"Antenatal, Neonatal",
158038,Primary hemophagocytic lymphohistiocytosis,Clinical group,Group of disorders,4A01.23,,,,,,,,,,
2104,Dysmorphism-pectus carinatum-joint laxity syndrome,Malformation syndrome,Disorder,,0016219,Q87.8,,C4518558,,,,Dysmorphism-pectus carinatum-joint laxity syndrome,"Infancy, Neonatal",Unknown
2099,OBSOLETE: Grix-Blankenship-Peterson syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
158032,Hemophagocytic syndrome,Category,Group of disorders,4A01.23,0015540,,,C0024291,,10058125,,Hemophagocytic syndrome,"Adolescent, Childhood, Infancy",
158029,OBSOLETE: Sea-blue histiocytosis,Disease,Disorder,,,,,,,,,,,
157843,Trigeminal autonomic cephalalgia,Clinical group,Group of disorders,8A82,0015530,,,C1565172,D051303,,,,,
2069,Gastrocutaneous syndrome,Disease,Disorder,EC23.1,0007651,Q85.8,137270,C1850899,C535651,,2438,Gastrocutaneous syndrome,"Adolescent, Adult",
157846,Neuroferritinopathy,Disease,Disorder,8A01.1Y,0011638,G23.0,606159,C1853578,C548080,,10686,Neuroferritinopathy,Adult,Autosomal dominant
157832,Craniorhiny,Malformation syndrome,Disorder,LA70.Y,0007398,Q30.8,123050,C1852501,C565144,,,Craniorhiny,Neonatal,
2067,GAPO syndrome,Malformation syndrome,Disorder,LD27.0Y,0009263,Q87.8,230740,C0406723,C535642,,400,GAPO syndrome,Neonatal,Autosomal recessive
157835,Paroxysmal hemicrania,Disease,Disorder,8A82,0015529,G44.0,,C1399352,D051302,10019461,10794,Paroxysmal hemicrania,"Adolescent, Adult, Childhood, Elderly",Not applicable
2065,Galloway-Mowat syndrome,Malformation syndrome,Disorder,GB41,0009627,Q04.3,618348,C0795949,C537548,10088355,65,Galloway-Mowat syndrome,"Childhood, Infancy, Neonatal","Autosomal recessive, X-linked recessive"
2075,Genitopalatocardiac syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009270,Q87.8,231060,C1856466,C537683,,2460,Genitopalatocardiac syndrome,"Antenatal, Neonatal",
157941,Huntington disease-like 1,Disease,Disorder,8A01.11,0011299,G10,603218,C1864112,C566398,,,Huntington disease-like 1,Adult,Autosomal dominant
2074,Gemignani syndrome,Malformation syndrome,Disorder,,0016159,G31.8,,C2931587,C537678,,2451,Gemignani syndrome,Adult,Autosomal recessive
157850,Pantothenate kinase-associated neurodegeneration,Disease,Disorder,5C64.10,0009319,G23.0,234200,C0018523,D006211,,6564,Pantothenate kinase-associated neurodegeneration,All ages,Autosomal recessive
2072,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Clinical subtype,Subtype of disorder,5C56.0Y,0009268,E75.2,231005,C2931585,,,,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Childhood,Autosomal recessive
157855,HARP syndrome,Clinical subtype,Subtype of disorder,,,,,C1846582,,,,,,
157954,ANE syndrome,Disease,Disorder,,0012794,E23.0,612079,C2677535,C567425,,,ANE syndrome,Adult,Autosomal recessive
157962,"Oculoauricular syndrome, Schorderet type",Malformation syndrome,Disorder,LD21.0,0012802,Q87.8,612109,C4706592,,,,"Oculoauricular syndrome, Schorderet type","Infancy, Neonatal",Autosomal recessive
157946,Huntington disease-like 3,Disease,Disorder,8A01.11,0011487,G10,604802,C1858114,C565747,,,Huntington disease-like 3,Childhood,Autosomal recessive
2078,Geroderma osteodysplastica,Malformation syndrome,Disorder,LD2B,0009271,Q82.8,231070,C0432255,C537799,,413,Geroderma osteodysplastica,Neonatal,Autosomal recessive
157949,Combined immunodeficiency with granulomatosis,Disease,Disorder,,0009306,D81.1,233650,C5191061,,,13587,Combined immunodeficiency with granulomatosis,,Autosomal recessive
2077,German syndrome,Malformation syndrome,Disorder,,0009272,Q87.8,231080,C3887495,C562543,,,German syndrome,Neonatal,Autosomal recessive
157973,Congenital muscular dystrophy due to LMNA mutation,Disease,Disorder,,0013178,G71.2,613205,C2750785,C567708,,,Congenital muscular dystrophy due to LMNA mutation,"Infancy, Neonatal",Autosomal dominant
2085,Glaucoma-sleep apnea syndrome,Disease,Disorder,9C6Y,0007666,H40.8,137763,C4304308,,,2483,Glaucoma-sleep apnea syndrome,No data available,Unknown
157980,NON RARE IN EUROPE: Bladder cancer,Disease,Disorder,,,,,,,,,,,
2084,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,Malformation syndrome,Disorder,,0012013,Q87.1,608328,C2931588,C537679,,2452,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,All ages,Autosomal dominant
157965,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,Clinical subtype,Subtype of disorder,LD28.1Y,0012873,Q79.6,612350,C2676510,C567340,,,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,Neonatal,Autosomal recessive
2083,Prominent glabella-microcephaly-hypogenitalism syndrome,Malformation syndrome,Disorder,,0009543,Q87.8,247990,C0796024,C537714,,144,Prominent glabella-microcephaly-hypogenitalism syndrome,"Antenatal, Neonatal",
2081,Cerebral gigantism-jaw cysts syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2051,Fraser-like syndrome,Malformation syndrome,Disorder,,,,229230,C1856708,,,,,,
2055,Growth deficiency-brachydactyly-dysmorphism syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1791,Frontofacionasal dysplasia,Malformation syndrome,Disorder,LD25.3,0009247,Q75.8,229400,C2931720,C538063,,2390,Frontofacionasal dysplasia,Neonatal,
1826,Frontometaphyseal dysplasia,Disease,Disorder,LD25.1,0015942,Q78.5,617137,C0265293,C538064,,826,Frontometaphyseal dysplasia,Neonatal,"Autosomal dominant, X-linked dominant"
2047,Flynn-Aird syndrome,Disease,Disorder,,0007624,Q87.8,136300,C0343108,C537066,,2347,Flynn-Aird syndrome,Childhood,Autosomal dominant
2048,Foix-Chavany-Marie syndrome,Malformation syndrome,Disorder,,0023171,G12.2,,C2931412,C537069,10083275,2351,Foix-Chavany-Marie syndrome,All ages,Not applicable
2050,Cole-Carpenter syndrome,Malformation syndrome,Disorder,LD24.KY,0016085,Q78.0,616294,C1862178,C535963,,1425,Cole-Carpenter syndrome,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable"
2060,Fukuda-Miyanomae-Nakata syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2063,Splenogonadal fusion-limb defects-micrognathia syndrome,Malformation syndrome,Disorder,,0008460,Q87.8,183300,C1866745,C537318,,4963,Splenogonadal fusion-limb defects-micrognathia syndrome,"Antenatal, Neonatal",
2064,Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,Malformation syndrome,Disorder,,0008650,Q87.5,192800,C4510303,C536344,,,Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,Childhood,Autosomal dominant
250,Frontonasal dysplasia,Clinical group,Group of disorders,,0016643,,,C1876203,C538065,10089384,2392,Frontonasal dysplasia,"Antenatal, Neonatal",Not applicable
2057,Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,Malformation syndrome,Disorder,,0008875,Q87.8,210745,C4303550,,,905,Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,Neonatal,Autosomal recessive
2059,Fryns syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009253,Q87.8,229850,C0220730,C538070,10075223,3699,Fryns syndrome,"Antenatal, Neonatal",Autosomal recessive
2026,Gingival fibromatosis-hypertrichosis syndrome,Malformation syndrome,Disorder,LD27.0Y,0007610,L68.8,135400,C4274889,,,2324,Gingival fibromatosis-hypertrichosis syndrome,"Infancy, Neonatal",Autosomal dominant
2025,Gingival fibromatosis-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0009228,Q87.0,228560,C4304501,,,10528,Gingival fibromatosis-facial dysmorphism syndrome,Neonatal,Autosomal recessive
2028,Juvenile hyaline fibromatosis,Clinical subtype,Subtype of disorder,EE6Y,0016071,M72.8,228600,C2745948,D057770,,,Juvenile hyaline fibromatosis,Childhood,Autosomal recessive
2027,Gingival fibromatosis-progressive deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0007612,H90.3,135550,C1851112,C535886,,3056,Gingival fibromatosis-progressive deafness syndrome,Adult,Autosomal dominant
158796,OBSOLETE: Classic mast cell leukemia,Disease,Disorder,,,,,,,,,,,
2021,Fibrochondrogenesis,Disease,Disorder,LD24.3,0016068,Q77.7,614524,C0265282,C562524,,2321,Fibrochondrogenesis,Neonatal,"Autosomal dominant, Autosomal recessive"
158799,OBSOLETE: Aleukemic mast cell leukemia,Disease,Disorder,,,,,,,,,,,
2019,Femur-fibula-ulna complex,Malformation syndrome,Disorder,LD26.0,0009221,Q74.8,228200,C1856790,C537918,10068448,2286,Femur-fibula-ulna complex,"Antenatal, Neonatal",Not applicable
2024,Hereditary gingival fibromatosis,Malformation syndrome,Disorder,DA0B.Y,0016070,K06.1,617626,C0399440,C562884,10088210,,Hereditary gingival fibromatosis,All ages,Autosomal dominant
2022,Endocardial fibroelastosis,Disease,Disorder,BC43.3,0009169,I42.4,226000,C0014117,D004695,10014663,6336,Endocardial fibroelastosis,Neonatal,Unknown
2824,Paraplegia-intellectual disability-hyperkeratosis syndrome,Malformation syndrome,Disorder,,0010662,G82.1,309560,C2745996,C537058,,2344,Paraplegia-intellectual disability-hyperkeratosis syndrome,Infancy,X-linked recessive
2045,FLOTCH syndrome,Disease,Disorder,,0016083,L60.8,,C2931411,C537065,,2346,FLOTCH syndrome,"Childhood, Infancy",
2044,Floating-Harbor syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007621,Q87.8,136140,C0729582,C537062,10079943,6455,Floating-Harbor syndrome,"Infancy, Neonatal",Autosomal dominant
2031,Hepatic fibrosis-renal cysts-intellectual disability syndrome,Malformation syndrome,Disorder,LD90.Y,0008941,Q87.8,213010,C2931226,C536515,,,Hepatic fibrosis-renal cysts-intellectual disability syndrome,"Infancy, Neonatal",
2029,Multiple non-ossifying fibromatosis,Malformation syndrome,Disorder,,,,,,,,,,,
2042,OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2036,Scalp-ear-nipple syndrome,Malformation syndrome,Disorder,LD27.0Y,0008404,Q87.8,181270,C1867020,C536623,,159,Scalp-ear-nipple syndrome,Neonatal,Autosomal dominant
158769,Plaque-form urticaria pigmentosa,Clinical subtype,Subtype of disorder,2A21.10,0015555,Q82.2,,C5680682,,,,Plaque-form urticaria pigmentosa,,"Autosomal dominant, Unknown"
2006,Median cleft lip/mandible,Morphological anomaly,Disorder,LA51,0016062,Q36.1,,C4518460,,,,Median cleft lip/mandible,Neonatal,Not applicable
158766,Typical urticaria pigmentosa,Clinical subtype,Subtype of disorder,2A21.10,0015554,Q82.2,,C5680683,,,,Typical urticaria pigmentosa,,"Autosomal dominant, Unknown"
2007,Alar cartilages hypoplasia-coloboma-telecanthus syndrome,Malformation syndrome,Disorder,,0008744,Q75.8,203000,C4302677,,,588,Alar cartilages hypoplasia-coloboma-telecanthus syndrome,Neonatal,Autosomal recessive
2003,Cleft lip/palate-deafness-sacral lipoma syndrome,Malformation syndrome,Disorder,LD2H.Y,0016059,Q87.8,,C4274888,,,,Cleft lip/palate-deafness-sacral lipoma syndrome,"Infancy, Neonatal",Unknown
158687,Lethal acantholytic erosive disorder,Disease,Disorder,EC30,0012323,Q81.0,609638,C1864826,C535493,,9910,Lethal acantholytic erosive disorder,"Antenatal, Neonatal",Autosomal recessive
158684,Epidermolysis bullosa simplex with pyloric atresia,Disease,Disorder,EC30,0012807,Q81.0,612138,C2677349,C567408,,,Epidermolysis bullosa simplex with pyloric atresia,Neonatal,Autosomal recessive
2004,Laryngotracheoesophageal cleft,Morphological anomaly,Disorder,LA72,0016060,Q32.1,215800,C1840311,C537875,,3188,Laryngotracheoesophageal cleft,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
2001,Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,Malformation syndrome,Disorder,,0011008,Q87.8,601165,C2931750,C538160,,3430,Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,Neonatal,Autosomal recessive
158681,Epidermolysis bullosa simplex with circinate migratory erythema,Disease,Disorder,EC30,0012258,Q81.0,609352,C1836284,C563730,,,Epidermolysis bullosa simplex with circinate migratory erythema,"Infancy, Neonatal",Autosomal dominant
158676,"Localized dystrophic epidermolysis bullosa, nails only",Clinical subtype,Subtype of disorder,EC32,0015553,Q81.2,607523,C4302547,,,,"Localized dystrophic epidermolysis bullosa, nails only","Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
158673,"Localized dystrophic epidermolysis bullosa, acral form",Clinical subtype,Subtype of disorder,EC32,0015552,Q81.2,,C4518087,,,,"Localized dystrophic epidermolysis bullosa, acral form","Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
158668,Ectodermal dysplasia-skin fragility syndrome,Disease,Disorder,EC30,,Q81.0,604536,C1858302,C536183,,9705,Ectodermal dysplasia-skin fragility syndrome,"Infancy, Neonatal",Autosomal recessive
2016,Cleft palate-lateral synechia syndrome,Malformation syndrome,Disorder,,0007337,Q87.8,119550,C0795898,C563047,,1391,Cleft palate-lateral synechia syndrome,"Antenatal, Neonatal",Autosomal dominant
158793,OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia,Clinical subtype,Subtype of disorder,,,,,,,,,,,
2017,Sternal cleft,Morphological anomaly,Disorder,LB73.13,0016066,Q76.7,,C2931507,C537489,,5012,Sternal cleft,"Antenatal, Neonatal",Not applicable
2013,Cleft palate-large ears-small head syndrome,Malformation syndrome,Disorder,,0008402,Q87.8,181180,C1867023,C536621,,162,Cleft palate-large ears-small head syndrome,"Infancy, Neonatal",
2010,Cleft palate-stapes fixation-oligodontia syndrome,Malformation syndrome,Disorder,,0008993,Q87.8,216300,C4304738,,,1393,Cleft palate-stapes fixation-oligodontia syndrome,Neonatal,Autosomal recessive
158778,Isolated bone marrow mastocytosis,Disease,Disorder,2A21.0Y,0015558,D47.0,,C4509020,,,,Isolated bone marrow mastocytosis,,"Autosomal dominant, Unknown"
158775,Smoldering systemic mastocytosis,Disease,Disorder,2A21.0Y,0015557,D47.0,,C3897042,,10089905,,Smoldering systemic mastocytosis,"Adult, Elderly","Autosomal dominant, Unknown"
158772,Nodular urticaria pigmentosa,Clinical subtype,Subtype of disorder,2A21.10,0015556,Q82.2,,C5680684,,,,Nodular urticaria pigmentosa,,"Autosomal dominant, Unknown"
2008,Acrocardiofacial syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010890,Q87.8,600460,C1838121,C563936,,1167,Acrocardiofacial syndrome,"Antenatal, Neonatal",Autosomal recessive
1987,Isolated femoral agenesis/hypoplasia,Morphological anomaly,Disorder,LB9A.8,0016032,Q72.4,,C5889736,,,1503,Isolated femoral agenesis/hypoplasia,"Antenatal, Neonatal",
1986,Gollop-Wolfgang complex,Malformation syndrome,Disorder,LD26.0,0009222,Q74.8,228250,C1856789,C537917,10079731,2285,Gollop-Wolfgang complex,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
1984,Fechtner syndrome,Clinical subtype,Subtype of disorder,,,,,C0403445,C537078,,,,,
1980,Bilateral striopallidodentate calcinosis,Disease,Disorder,LD20.4,0008947,G23.8,618317,,,10078822,6406,Bilateral striopallidodentate calcinosis,Adult,"Autosomal dominant, Autosomal recessive, Not applicable"
158661,OBSOLETE: Suprabasal epidermolysis bullosa simplex,Category,Group of disorders,,,,,,,,,,,
158665,OBSOLETE: Basal epidermolysis bullosa simplex,Category,Group of disorders,,,,,,,,,,,
1997,Blepharo-cheilo-odontic syndrome,Malformation syndrome,Disorder,LD27.0Y,0007339,Q87.8,119580,C1861536,C536188,,2071,Blepharo-cheilo-odontic syndrome,Neonatal,Autosomal dominant
1995,OBSOLETE: Cleft lip-retinopathy syndrome,Malformation syndrome,Disorder,,,,,,,,,OBSOLETE: Cleft lip-retinopathy syndrome,Antenatal,
1993,Pai syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007956,Q87.8,155145,C1835087,C536135,,3439,Pai syndrome,"Antenatal, Neonatal",Unknown
1988,Femoral-facial syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007604,Q87.8,134780,C0265263,C537916,10083944,61,Femoral-facial syndrome,"Antenatal, Neonatal",Not applicable
2348,"Familial partial lipodystrophy, Dunnigan type",Disease,Disorder,5A44,0007906,E88.1,151660,C1720860,,,3126,"Familial partial lipodystrophy, Dunnigan type","Adolescent, Adult, Childhood, Elderly",Autosomal dominant
247775,Mayer-Rokitansky-Küster-Hauser syndrome type 1,Clinical subtype,Subtype of disorder,LB44.Y,0010173,Q51.8,277000,C5566555,,,4737,Mayer-Rokitansky-Küster-Hauser syndrome type 1,"Adolescent, Antenatal","Autosomal dominant, Not applicable"
247768,Müllerian aplasia and hyperandrogenism,Malformation syndrome,Disorder,,0008019,Q51.8,158330,C2675014,C567186,10088125,,Müllerian aplasia and hyperandrogenism,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2351,Kousseff syndrome,Malformation syndrome,Disorder,,0016522,Q87.8,,C2931444,C537223,,4752,Kousseff syndrome,"Antenatal, Infancy, Neonatal",
2353,Schilbach-Rott syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008113,Q87.8,164220,C1834038,C563509,,2930,Schilbach-Rott syndrome,"Infancy, Neonatal",Autosomal dominant
247790,FTH1-related iron overload,Disease,Disorder,5C64.10,0014225,E83.1,615517,C1851316,,,13472,FTH1-related iron overload,No data available,Autosomal dominant
247798,MUTYH-related polyposis,Disease,Disorder,2B90.Y,0012041,D12.6,608456,C3272841,C563924,,10805,MUTYH-related polyposis,Adult,"Autosomal dominant, Autosomal recessive"
2355,Kumar-Levick syndrome,Malformation syndrome,Disorder,,,,106990,,,,,,,
247794,Juvenile cataract-microcornea-renal glucosuria syndrome,Disease,Disorder,,0012786,E88.8,612018,C4302529,,,,Juvenile cataract-microcornea-renal glucosuria syndrome,Childhood,Autosomal dominant
247815,Autosomal recessive ataxia due to PEX10 deficiency,Disease,Disorder,,0016614,G11.8,,C5679614,,,,Autosomal recessive ataxia due to PEX10 deficiency,"Adolescent, Childhood",Autosomal recessive
247806,OBSOLETE: APC-related attenuated familial adenomatous polyposis,Clinical subtype,Subtype of disorder,,,,,,,,,,,
2363,Lacrimoauriculodentodigital syndrome,Malformation syndrome,Disorder,LD27.0Y,0007872,Q87.8,620192,C0265269,C538132,10085252,6848,Lacrimoauriculodentodigital syndrome,"Antenatal, Neonatal",Autosomal dominant
247691,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Disease,Disorder,9B78.0,0008641,I77.8,192315,C1860518,C566007,,1217,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,"Adult, Elderly",Autosomal dominant
2340,Keratosis follicularis spinulosa decalvans,Disease,Disorder,ED56,0000136,Q82.8,604093,C0343057,C536159,,6829,Keratosis follicularis spinulosa decalvans,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
247685,Odontohypophosphatasia,Clinical subtype,Subtype of disorder,,0016607,E83.3,146300,C1840322,C564146,,,Odontohypophosphatasia,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
247709,Multiple endocrine neoplasia type 2B,Clinical subtype,Subtype of disorder,2F7A.0,0008082,D44.8,162300,C0025269,D018814,10056420,10225,Multiple endocrine neoplasia type 2B,Childhood,Autosomal dominant
2342,Haim-Munk syndrome,Disease,Disorder,,0009491,Q82.8,245010,C1855627,C537627,,44,Haim-Munk syndrome,"Childhood, Infancy",Autosomal recessive
247698,Multiple endocrine neoplasia type 2A,Clinical subtype,Subtype of disorder,2F7A.0,0008234,D44.8,171400,C0025268,D018813,10073148,4881,Multiple endocrine neoplasia type 2A,Childhood,Autosomal dominant
247724,Idiopathic eosinophilic myositis,Disease,Disorder,,0016610,M60.8,,C4755301,,,,Idiopathic eosinophilic myositis,,Not applicable
247718,Inflammatory myopathy with abundant macrophages,Disease,Disorder,,0016609,G72.4,,C4707791,,,,Inflammatory myopathy with abundant macrophages,,Not applicable
247765,X-linked cerebellar ataxia,Category,Group of disorders,,0016612,,,,,,,X-linked cerebellar ataxia,,"X-linked dominant, X-linked recessive"
485,Kniest dysplasia,Disease,Disorder,LD24.3,0007987,Q77.7,156550,C0265279,C537207,10081685,6841,Kniest dysplasia,"Antenatal, Infancy, Neonatal",Autosomal dominant
247762,Lipoblastoma,Disease,Disorder,2E80.1,0016611,D17.9,,C1260965,D062689,10074547,12015,Lipoblastoma,Childhood,Not applicable
2347,Lethal Kniest-like dysplasia,Malformation syndrome,Disorder,LD24.3,0009498,Q77.8,245190,C1855605,C537208,,3124,Lethal Kniest-like dysplasia,Neonatal,Autosomal recessive
247585,Citrullinemia type II,Disease,Disorder,5C50.A3,0016603,E72.2,603471,C1863844,C538053,,10215,Citrullinemia type II,Adult,Autosomal recessive
2333,Kenny-Caffey syndrome,Malformation syndrome,Disorder,LD24.D,0016516,Q87.1,127000,C0265291,,10073228,,Kenny-Caffey syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
247598,Neonatal intrahepatic cholestasis due to citrin deficiency,Disease,Disorder,5C50.A3,0011601,E72.2,605814,C1853942,,,10214,Neonatal intrahepatic cholestasis due to citrin deficiency,"Infancy, Neonatal",Autosomal recessive
2332,KBG syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007846,Q87.8,148050,C0220687,C537015,10084411,82,KBG syndrome,"Adolescent, Childhood, Infancy, Neonatal",Autosomal dominant
247604,Juvenile primary lateral sclerosis,Disease,Disorder,,0011663,G12.2,606353,C1853396,C536416,,4485,Juvenile primary lateral sclerosis,Childhood,Autosomal recessive
247623,Perinatal lethal hypophosphatasia,Clinical subtype,Subtype of disorder,5C64.3,0016605,E83.3,241500,C2673477,C567107,,,Perinatal lethal hypophosphatasia,"Antenatal, Neonatal",Autosomal recessive
2335,NON RARE IN EUROPE: Isolated keratoconus,Disease,Disorder,,,,,,,,,,,
247638,Prenatal benign hypophosphatasia,Clinical subtype,Subtype of disorder,5C64.3,,E83.3,,C5679616,,,,Prenatal benign hypophosphatasia,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
2338,Isolated punctate palmoplantar keratoderma,Clinical group,Group of disorders,,,,,C5679617,,,,Isolated punctate palmoplantar keratoderma,,Autosomal dominant
2337,"Diffuse palmoplantar keratoderma, Bothnian type",Disease,Disorder,EC20.30,0010849,Q82.8,600231,C1838359,,,1862,"Diffuse palmoplantar keratoderma, Bothnian type","Childhood, Infancy",Autosomal dominant
247651,Infantile hypophosphatasia,Clinical subtype,Subtype of disorder,5C64.3,,E83.3,241500,C0268412,C562646,,,Infantile hypophosphatasia,"Infancy, Neonatal",Autosomal recessive
247667,Childhood-onset hypophosphatasia,Clinical subtype,Subtype of disorder,5C64.3,,E83.3,241510,C0220743,C562440,,8735,Childhood-onset hypophosphatasia,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
2339,Keratosis follicularis-dwarfism-cerebral atrophy syndrome,Malformation syndrome,Disorder,,0010638,Q87.1,308830,C4510086,C536158,,3099,Keratosis follicularis-dwarfism-cerebral atrophy syndrome,"Infancy, Neonatal",X-linked recessive
247676,Adult hypophosphatasia,Clinical subtype,Subtype of disorder,5C64.3,,E83.3,146300,C0268413,C562647,,,Adult hypophosphatasia,Adult,"Autosomal dominant, Autosomal recessive"
494,Keratoderma hereditarium mutilans,Disease,Disorder,,0007422,Q82.8,124500,C0265964,C536457,,3092,Keratoderma hereditarium mutilans,"Childhood, Infancy",Autosomal dominant
2322,Kabuki syndrome,Malformation syndrome,Disorder,LD2F.1Y,0016512,Q87.0,300867,C0796004,C537705,10063935,6810,Kabuki syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
247378,Autosomal recessive secondary polycythemia not associated with VHL gene,Disease,Disorder,3A80.Y,0016598,D75.1,,C5191076,,,,Autosomal recessive secondary polycythemia not associated with VHL gene,"Infancy, Neonatal",Autosomal recessive
2321,Jung syndrome,Malformation syndrome,Disorder,,0011078,Q87.8,601427,C1275130,C537694,,3062,Jung syndrome,"Infancy, Neonatal",
2324,Osteopenia-intellectual disability-sparse hair syndrome,Malformation syndrome,Disorder,LD24.KY,0009814,Q87.5,259690,C1850140,C537706,,354,Osteopenia-intellectual disability-sparse hair syndrome,"Infancy, Neonatal",Autosomal recessive
247511,Autosomal dominant secondary polycythemia,Disease,Disorder,3A80.Y,0016599,D75.1,611783,C5190864,,,,Autosomal dominant secondary polycythemia,"Infancy, Neonatal",Autosomal dominant
2323,Sanjad-Sakati syndrome,Malformation syndrome,Disorder,LD24.D,0009426,Q87.1,241410,C1855840,C537157,,411,Sanjad-Sakati syndrome,"Infancy, Neonatal",Autosomal recessive
247522,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,Disease,Disorder,LA75.Y,0010330,Q34.8,300455,C4304829,,,,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,Childhood,X-linked recessive
247525,Citrullinemia type I,Disease,Disorder,5C50.A3,0008988,E72.2,215700,C4721769,,10058298,6114,Citrullinemia type I,All ages,Autosomal recessive
247546,Acute neonatal citrullinemia type I,Clinical subtype,Subtype of disorder,5C50.A3,0016600,E72.2,215700,C5679618,,,,Acute neonatal citrullinemia type I,"Infancy, Neonatal",Autosomal recessive
2325,Epidermolysis bullosa simplex with anodontia/hypodontia,Malformation syndrome,Disorder,,0016514,Q81.0,,C0432313,,,,Epidermolysis bullosa simplex with anodontia/hypodontia,"Infancy, Neonatal",
247573,Late-onset citrullinemia type I,Clinical subtype,Subtype of disorder,,0016601,E72.2,215700,C0268546,,,,Late-onset citrullinemia type I,Adult,Autosomal recessive
2329,Karsch-Neugebauer syndrome,Malformation syndrome,Disorder,,0008466,Q87.2,183800,C1866740,C537319,,4967,Karsch-Neugebauer syndrome,"Infancy, Neonatal",Autosomal dominant
247582,Citrin deficiency,Category,Group of disorders,,0016602,,,C1997910,,,,Citrin deficiency,All ages,Autosomal recessive
2328,Kapur-Toriello syndrome,Malformation syndrome,Disorder,,0009483,Q87.8,244300,C0796005,C537008,,3078,Kapur-Toriello syndrome,"Infancy, Neonatal",Autosomal recessive
248404,Rare thrombotic disorder due to an acquired platelet anomaly,Category,Group of disorders,,,,,C5680685,,,,,,
2408,Lowe-Kohn-Cohen syndrome,Malformation syndrome,Disorder,LD2H.Y,0016568,Q87.8,,C4707726,,,1695,Lowe-Kohn-Cohen syndrome,"Antenatal, Neonatal",
248401,Rare thrombotic disorder due to a constitutional platelet anomaly,Category,Group of disorders,,,,,C5680686,,,,,,
2409,Lowry-MacLean syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010851,Q87.8,600252,C0796020,C537037,,3300,Lowry-MacLean syndrome,"Infancy, Neonatal",Autosomal dominant
2405,Thickened earlobes-conductive deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0007504,H90.0,128980,C4302507,,,,Thickened earlobes-conductive deafness syndrome,All ages,Autosomal dominant
248368,Rare thrombotic disorder due to a platelet anomaly,Category,Group of disorders,,,,,C5680687,,,,,,
248365,Rare thrombotic disorder due to an acquired coagulation factors defect,Category,Group of disorders,,,,,C5680688,,,,,,
2407,Laryngo-onycho-cutaneous syndrome,Disease,Disorder,EC31,0009513,Q81.8,245660,C1328355,C537032,10062987,,Laryngo-onycho-cutaneous syndrome,"Infancy, Neonatal",Autosomal recessive
250165,Genetic polycythemia,Category,Group of disorders,,,,,C5680689,,,,,,
2412,Dislocation of the hip-dysmorphism syndrome,Malformation syndrome,Disorder,,0011081,Q87.2,601450,C4706570,,,1428,Dislocation of the hip-dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
2575,Cystic fibrosis-gastritis-megaloblastic anemia syndrome,Disease,Disorder,CA25.1,0009062,E84.8,219721,C2931402,C537039,,3303,Cystic fibrosis-gastritis-megaloblastic anemia syndrome,Infancy,Autosomal recessive
248408,Familial hypodysfibrinogenemia,Clinical subtype,Subtype of disorder,3B14.0,0016638,D68.2,616004,C0472803,,,,Familial hypodysfibrinogenemia,,Autosomal dominant
2410,Hypergonadotropic hypogonadism-cataract syndrome,Malformation syndrome,Disorder,,0009417,E29.1,240950,C1855859,C543092,,298,Hypergonadotropic hypogonadism-cataract syndrome,Adolescent,Autosomal recessive
248326,Rare hemorrhagic disorder due to a platelet anomaly,Category,Group of disorders,,,,,C5679619,,,,,,
2399,Nasopalpebral lipoma-coloboma syndrome,Malformation syndrome,Disorder,LD21.Y,0008182,Q10.3,167730,C1868660,C538338,,3927,Nasopalpebral lipoma-coloboma syndrome,Neonatal,Autosomal dominant
248315,Rare hemorrhagic disorder due to a coagulation factors defect,Category,Group of disorders,,,,,C5679620,,,,,,
2400,Peripheral motor neuropathy-dysautonomia syndrome,Disease,Disorder,8C2Y,0009648,G60.8,252320,C1854961,C536988,,,Peripheral motor neuropathy-dysautonomia syndrome,Childhood,Unknown
248308,Rare hemorrhagic disorder,Category,Group of disorders,,,,,C5679621,,,,,,
248305,OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency,Disease,Disorder,,,,,,,,,,,
2396,Encephalocraniocutaneous lipomatosis,Disease,Disorder,EF02.1,0013074,E88.2,613001,C0406612,C535736,,2108,Encephalocraniocutaneous lipomatosis,"Antenatal, Neonatal",Not applicable
248361,Rare thrombotic disorder due to a constitutional coagulation factors defect,Category,Group of disorders,,,,,C5680691,,,,,,
248358,Rare thrombotic disorder due to a coagulation factors defect,Category,Group of disorders,,,,,C5680692,,,,,,
248347,Rare hemorrhagic disorder due to an acquired platelet anomaly,Category,Group of disorders,,,,,C5679622,,,,,,
248340,Isolated delta-storage pool disease,Disease,Disorder,3B62.3,0016630,D69.1,617443,C0032197,,,,Isolated delta-storage pool disease,,"Autosomal dominant, Autosomal recessive"
2388,Choreoacanthocytosis,Disease,Disorder,3A10.Y,0008695,E78.6,200150,C5848062,,10081505,3956,Choreoacanthocytosis,Adult,Autosomal recessive
248111,Juvenile Huntington disease,Disease,Disorder,,0016621,G10,143100,C0751208,,,10510,Juvenile Huntington disease,"Adolescent, Childhood",Autosomal dominant
2387,Leukonychia totalis,Disease,Disorder,EC22.0,0016557,Q84.4,151600,C4551625,C535889,,9759,Leukonychia totalis,Neonatal,"Autosomal dominant, Autosomal recessive"
247871,OBSOLETE: Vitiligo-associated autoimmune disease,Disease,Disorder,,,,,,,,,,,
2386,Leukoencephalopathy-palmoplantar keratoderma syndrome,Disease,Disorder,,0016545,Q82.8,,C4749769,,,3232,Leukoencephalopathy-palmoplantar keratoderma syndrome,Childhood,Autosomal recessive
248095,Primary hypertrophic osteoarthropathy,Clinical group,Group of disorders,,0016620,,,C0029411,D010004,,,Primary hypertrophic osteoarthropathy,"Infancy, Neonatal",Autosomal recessive
2379,Early-onset parkinsonism-intellectual disability syndrome,Disease,Disorder,LD90.1,0010709,G20,311510,C0796195,C537179,,3203,Early-onset parkinsonism-intellectual disability syndrome,Infancy,X-linked recessive
248302,Rare acquired deficiency anemia,Category,Group of disorders,,,,,C5680693,,,,,,
2391,Congenitally short costocoracoid ligament,Malformation syndrome,Disorder,,0007388,Q68.8,122580,C1852523,C536448,,1551,Congenitally short costocoracoid ligament,"Infancy, Neonatal",Autosomal dominant
248293,Rare deficiency anemia,Category,Group of disorders,,,,,C5680694,,,,,,
2390,Lichtenstein syndrome,Disease,Disorder,,0009523,D70,246550,C1855502,C535894,,3248,Lichtenstein syndrome,"Infancy, Neonatal",Autosomal recessive
248296,Constitutional deficiency anemia,Category,Group of disorders,,,,,C5680695,,,,,,
2389,Lewis-Pashayan syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
247834,Occult macular dystrophy,Disease,Disorder,9B75.Y,0013316,H35.5,613587,C3150833,,,,Occult macular dystrophy,All ages,Autosomal dominant
2371,Lethal Larsen-like syndrome,Malformation syndrome,Disorder,LD24.E,0009512,Q74.8,245650,C4304741,C537872,,3181,Lethal Larsen-like syndrome,Neonatal,Autosomal recessive
247839,OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies,Etiological subtype,Subtype of disorder,,,,,,,,,,,
2369,Limb body wall complex,Malformation syndrome,Disorder,LD2F.1Y,0016528,Q87.8,,C4274839,,,3251,Limb body wall complex,"Antenatal, Infancy, Neonatal",Not applicable
247820,Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome,Malformation syndrome,Disorder,,,Q82.8,613573,C4749852,,,,Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome,"Infancy, Neonatal",Autosomal recessive
247827,Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome,Malformation syndrome,Disorder,,,Q82.8,613576,C5816683,,,,Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome,"Infancy, Neonatal",Autosomal recessive
247861,OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies,Etiological subtype,Subtype of disorder,,,,,,,,,,,
2378,Laurin-Sandrow syndrome,Malformation syndrome,Disorder,LD26.2,0007615,Q87.2,135750,C1851100,C535689,,155,Laurin-Sandrow syndrome,"Antenatal, Neonatal",Autosomal dominant
247868,NLRP12-associated hereditary periodic fever syndrome,Disease,Disorder,4A60.Y,0012724,E85.0,611762,C2673198,C567090,,,NLRP12-associated hereditary periodic fever syndrome,"Infancy, Neonatal",Autosomal dominant
247846,OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies,Etiological subtype,Subtype of disorder,,,,,,,,,,,
2375,Laryngeal abductor paralysis-intellectual disability syndrome,Malformation syndrome,Disorder,,0010639,J38.0,308850,C4319572,,,,Laryngeal abductor paralysis-intellectual disability syndrome,Childhood,X-linked recessive
247854,OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies,Etiological subtype,Subtype of disorder,,,,,,,,,,,
2454,OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2456,Familial supernumerary nipples,Morphological anomaly,Disorder,LB63,0008101,Q83.3,163700,C4707878,,,2259,Familial supernumerary nipples,"Infancy, Neonatal",
2457,Mandibuloacral dysplasia,Malformation syndrome,Disorder,LD27.6Z,0016584,Q87.5,248370,C0432291,,,11893,Mandibuloacral dysplasia,"Infancy, Neonatal",Autosomal recessive
2451,Mucocutaneous venous malformations,Malformation syndrome,Disorder,LC51,0010842,Q27.8,600195,C1838437,C563977,,,Mucocutaneous venous malformations,All ages,Autosomal dominant
2453,Malpuech syndrome,Malformation syndrome,Disorder,,,,248340,C0796032,,,,,,
2439,Patterson-Stevenson-Fontaine syndrome,Malformation syndrome,Disorder,,0008465,Q87.0,183700,C5574964,,,4260,Patterson-Stevenson-Fontaine syndrome,"Antenatal, Neonatal",Autosomal dominant
244305,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,Disease,Disorder,GB90.48,0016579,N25.8,612287,C5191009,,,,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,Adult,Autosomal dominant
244283,Biliary atresia with splenic malformation syndrome,Malformation syndrome,Disorder,LB2Y,0016577,Q44.2,,C4274029,,,,Biliary atresia with splenic malformation syndrome,"Infancy, Neonatal",Multigenic/multifactorial
2440,Isolated split hand-split foot malformation,Malformation syndrome,Disorder,LB9B,0016576,Q74.8,606708,C0265554,,10079827,6319,Isolated split hand-split foot malformation,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
244310,RFT1-CDG,Disease,Disorder,5C54.0,0012783,E77.8,612015,C2677590,C567437,,12394,RFT1-CDG,"Infancy, Neonatal",Autosomal recessive
244242,HELLP syndrome,Disease,Disorder,JA24.2,0008585,O14.2,,C0162739,D017359,10049058,8528,HELLP syndrome,Adult,Multigenic/multifactorial
296,Ollier disease,Disease,Disorder,2E83.Z,0008145,Q78.4,166000,C0014084,D004687,10014642,7251,Ollier disease,"Adolescent, Adult, Childhood",Not applicable
2437,Czeizel-Losonci syndrome,Malformation syndrome,Disorder,,0008467,Q87.8,183802,C1866739,C566662,,4969,Czeizel-Losonci syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
244275,De novo thrombotic microangiopathy after kidney transplantation,Particular clinical situation in a disease or syndrome,Disorder,NE8Y,,M31.1,,C5680696,,,,De novo thrombotic microangiopathy after kidney transplantation,All ages,
2438,Hand-foot-genital syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007698,Q51.2,140000,C1841679,C535627,10072361,2594,Hand-foot-genital syndrome,"Antenatal, Neonatal",Autosomal dominant
243343,Dimethylglycine dehydrogenase deficiency,Disease,Disorder,,0011610,E72.5,605850,C1853892,C565278,,,Dimethylglycine dehydrogenase deficiency,Childhood,Autosomal recessive
1019,Epstein syndrome,Clinical subtype,Subtype of disorder,,,,,C0398641,,,,,,
243367,Acute fatty liver of pregnancy,Disease,Disorder,JA65.0,0016573,O26.6,,C1455728,C537957,10000746,9578,Acute fatty liver of pregnancy,Adult,Multigenic/multifactorial
243377,NON RARE IN EUROPE: Diabetes mellitus type 1,Disease,Disorder,,,E10,,,,,,,,
2435,Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,Disease,Disorder,,0016574,L81.8,,C1835172,C537836,,3347,Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,"Infancy, Neonatal",Unknown
243761,NON RARE IN EUROPE: Essential hypertension,Disease,Disorder,,,I10,,,,,,,,
2429,Macrocephaly-spastic paraplegia-dysmorphism syndrome,Malformation syndrome,Disorder,,0010858,Q87.8,600302,C1838281,C563963,,,Macrocephaly-spastic paraplegia-dysmorphism syndrome,Childhood,Autosomal recessive
2432,Macrosomia-microphthalmia-cleft palate syndrome,Malformation syndrome,Disorder,,0009547,Q87.0,248110,C4721892,C537830,,177,Macrosomia-microphthalmia-cleft palate syndrome,"Antenatal, Neonatal",
2419,Lymphedema-ptosis syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2489,Upper limb defect-eye and ear abnormalities syndrome,Malformation syndrome,Disorder,,0010125,Q87.8,274205,C4274838,,,,Upper limb defect-eye and ear abnormalities syndrome,"Infancy, Neonatal",
247353,Generalized pustular psoriasis,Disease,Disorder,EA90.40,100491,L40.1,616106,C0343055,,10090621,12819,Generalized pustular psoriasis,Adult,"Autosomal recessive, Not applicable"
247262,Hyperphosphatasia-intellectual disability syndrome,Disease,Disorder,,0016596,Q87.8,616809,C1855923,C565495,,,Hyperphosphatasia-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
2487,Lower limb malformation-hypospadias syndrome,Malformation syndrome,Disorder,,0016639,Q87.2,,C2930962,C535640,,,Lower limb malformation-hypospadias syndrome,Neonatal,
247257,Inhalational anthrax,Disease,Disorder,1B97,0016595,A22.1,,C0155866,C571912,10035667,,Inhalational anthrax,All ages,Not applicable
247245,Superficial siderosis,Disease,Disorder,,0016594,I69.0,,C2938918,,10070564,9484,Superficial siderosis,All ages,Not applicable
247242,Acquired ataxia,Category,Group of disorders,8A03.3,0016593,,,C4302112,,,,,,
2485,Melorheostosis,Malformation syndrome,Disorder,LD24.1Y,0007970,M85.8,155950,C0025239,D008557,10050284,9474,Melorheostosis,All ages,Not applicable
2486,Transverse limb deficiency-hemangioma syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
247239,Non-hereditary degenerative ataxia,Category,Group of disorders,8A03.2,,,,C5680697,,,,Non-hereditary degenerative ataxia,Adult,Not applicable
247234,Sporadic adult-onset ataxia of unknown etiology,Disease,Disorder,,0016591,G31.8,,C4518339,,,,Sporadic adult-onset ataxia of unknown etiology,"Adult, Elderly",Not applicable
2483,Melkersson-Rosenthal syndrome,Malformation syndrome,Disorder,8B88.Y,0007969,G51.2,155900,C0025235,D008556,10027166,7010,Melkersson-Rosenthal syndrome,Childhood,
247203,Collecting duct carcinoma,Disease,Disorder,,0005220,C64,,C1266044,,,9573,Collecting duct carcinoma,Adult,Not applicable
2484,Melnick-Needles syndrome,Malformation syndrome,Disorder,LD25.1,0010650,Q77.8,309350,C0025237,,10060908,7011,Melnick-Needles syndrome,Childhood,X-linked dominant
247198,Progressive cerebello-cerebral atrophy,Disease,Disorder,,0016589,G31.8,615851,C3151140,,,,Progressive cerebello-cerebral atrophy,"Infancy, Neonatal",Autosomal recessive
2481,Neurocutaneous melanocytosis,Disease,Disorder,2F20.20,0009578,D22.7,249400,C0544862,C537387,,7186,Neurocutaneous melanocytosis,Childhood,Not applicable
2482,Melhem-Fahl syndrome,Malformation syndrome,Disorder,LD24.H,0016622,Q76.4,,C2931453,C537238,,3462,Melhem-Fahl syndrome,Neonatal,
247165,Infantile mercury poisoning,Disease,Disorder,NE61,0016588,T56.1,,C4553710,,,,Infantile mercury poisoning,Infancy,Not applicable
2477,Isolated megalencephaly,Malformation syndrome,Disorder,LA05.1,0016608,Q04.5,248000,C2720434,,,,Isolated megalencephaly,"Antenatal, Neonatal",Autosomal recessive
2479,Megalocornea-intellectual disability syndrome,Malformation syndrome,Disorder,,0009577,Q87.8,249310,C0796086,C536143,,3448,Megalocornea-intellectual disability syndrome,"Childhood, Infancy, Neonatal",
2475,White forelock with malformations,Malformation syndrome,Disorder,LD2F.1Y,0010199,Q87.8,277740,C1848463,C536700,,10081,White forelock with malformations,"Infancy, Neonatal",
2476,Dysraphism-cleft lip/palate-limb reduction defects syndrome,Malformation syndrome,Disorder,,0016604,Q00.0,,C5679624,,,3438,Dysraphism-cleft lip/palate-limb reduction defects syndrome,Antenatal,
2474,OBSOLETE: McLain-Dekaban syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2473,McKusick-Kaufman syndrome,Malformation syndrome,Disorder,9B70,0009367,Q87.8,236700,C0948368,C538159,10052312,3427,McKusick-Kaufman syndrome,"Antenatal, Neonatal",Autosomal recessive
2471,McDonough syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009570,Q87.8,248950,C0796038,C538158,,3424,McDonough syndrome,"Infancy, Neonatal",
2470,Matthew-Wood syndrome,Malformation syndrome,Disorder,LD21.0,0011010,Q11.2,601186,C1832661,C537768,,713,Matthew-Wood syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
561,Marshall-Smith syndrome,Malformation syndrome,Disorder,LD2C,0011244,Q87.3,602535,C0265211,C536026,,6985,Marshall-Smith syndrome,"Infancy, Neonatal",Autosomal dominant
2464,"Marfanoid syndrome, De Silva type",Malformation syndrome,Disorder,,0009120,Q87.4,223330,C4517371,,,3401,"Marfanoid syndrome, De Silva type","Adult, Childhood",
559,Marinesco-Sjögren syndrome,Disease,Disorder,8C70.6,0009567,G11.1,248800,C0024814,,,8341,Marinesco-Sjögren syndrome,"Childhood, Infancy",Autosomal recessive
2463,Marfanoid habitus-autosomal recessive intellectual disability syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009566,Q87.8,248770,C4518565,,,3388,Marfanoid habitus-autosomal recessive intellectual disability syndrome,"Childhood, Infancy",Autosomal recessive
2462,Shprintzen-Goldberg syndrome,Malformation syndrome,Disorder,LD28.0Y,0008426,Q87.8,182212,C1321551,C537328,10082234,4861,Shprintzen-Goldberg syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Multigenic/multifactorial, Not applicable"
2461,Marden-Walker syndrome,Malformation syndrome,Disorder,LD26.41,0009564,Q87.0,248700,C0796033,C535910,,6973,Marden-Walker syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
251630,Anaplastic oligodendroglioma,Disease,Disorder,XH9QF3,0016696,C71.9,137800,C0334590,,10026659,9472,Anaplastic oligodendroglioma,Adult,Not applicable
2172,Microcephaly-glomerulonephritis-marfanoid habitus syndrome,Malformation syndrome,Disorder,,0009565,Q87.8,248760,C1855348,C565411,,3615,Microcephaly-glomerulonephritis-marfanoid habitus syndrome,Neonatal,Autosomal recessive
251633,OBSOLETE: Low-grade ependymoma,Disease,Disorder,,,,,,,,,,,
251636,Ependymoma,Disease,Disorder,,0016698,D43.2,,C0014474,D004806,10014967,6353,Ependymoma,All ages,Not applicable
2174,Hunter-Carpenter-McDonald syndrome,Disease,Disorder,,,,,,,,,,,
251639,Subependymoma,Disease,Disorder,XH8FZ9,0007667,D43.2,,C0206725,D018315,,10070,Subependymoma,Adult,
251643,Myxopapillary ependymoma,Disease,Disorder,XH15U1,0016699,D43.2,,C0205769,,,10633,Myxopapillary ependymoma,"Adolescent, All ages, Childhood",Not applicable
2176,Infantile systemic hyalinosis,Clinical subtype,Subtype of disorder,EE6Y,0016331,E78.8,228600,C5574678,,,,Infantile systemic hyalinosis,"Infancy, Neonatal",Autosomal recessive
251646,Anaplastic ependymoma,Disease,Disorder,XH6922,0016700,C71.9,,C0280788,,10014968,10634,Anaplastic ependymoma,"Adolescent, Adult, Childhood",Not applicable
251651,Oligoastrocytic tumor,Clinical group,Group of disorders,,,,,C0280793,,,,,,
2181,Hydrocephaly-tall stature-joint laxity syndrome,Malformation syndrome,Disorder,,0009363,Q87.8,236660,C1856051,C535770,,1666,Hydrocephaly-tall stature-joint laxity syndrome,Infancy,Autosomal recessive
251656,Oligoastrocytoma,Disease,Disorder,2A00.0Y,0016702,C71.9,,C0547065,,10073131,9769,,,
2180,Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,Malformation syndrome,Disorder,,0010972,Q87.8,600991,C2931197,C536461,,5518,Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,Neonatal,Unknown
251663,Anaplastic oligoastrocytoma,Disease,Disorder,2A00.0Y,0016703,C71.9,,C0431108,,,10637,Anaplastic oligoastrocytoma,Adult,Not applicable
2186,Hydrocephalus-blue sclerae-nephropathy syndrome,Malformation syndrome,Disorder,,0016350,Q87.8,,C4750751,,,236,Hydrocephalus-blue sclerae-nephropathy syndrome,No data available,Unknown
251668,Glial tumor of neuroepithelial tissue with unknown origin,Clinical group,Group of disorders,,,,,C5680698,,,,,,
251671,Angiocentric glioma,Disease,Disorder,2A00.0Y,0016705,C71.9,,C2363903,,10073129,,Angiocentric glioma,All ages,
2189,Hydrolethalus,Malformation syndrome,Disorder,LD2F.1Y,0006037,Q87.8,614120,C2931104,C536079,,6683,Hydrolethalus,"Antenatal, Neonatal",Autosomal recessive
251674,Chordoid glioma,Disease,Disorder,,,C71.9,,C1322252,,,,Chordoid glioma,Adult,
251679,Astroblastoma,Disease,Disorder,2A00.4,0016707,C71.9,,C0334587,,10079366,10635,Astroblastoma,"Adolescent, Adult, Childhood, Infancy",Not applicable
2190,OBSOLETE: Congenital hydronephrosis,Morphological anomaly,Disorder,,,,,,,,,,,
312,Autosomal dominant epidermolytic ichthyosis,Disease,Disorder,EC20.03,20702,Q80.3,620150,C0079153,D017488,,1039,Autosomal dominant epidermolytic ichthyosis,Neonatal,Autosomal dominant
2196,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,Clinical subtype,Subtype of disorder,5C64.41,0009548,E83.4,248190,C1855466,C565423,,3451,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,Childhood,Autosomal recessive
251852,Embryonal tumor of neuroepithelial tissue,Category,Group of disorders,,,,,C5680699,,,,,,
251576,Gliosarcoma,Histopathological subtype,Subtype of disorder,XH9RC8,0016681,C71.9,,C0206726,D018316,10018340,5653,Gliosarcoma,Adult,Not applicable
387,NON RARE IN EUROPE: Hidradenitis suppurativa,Disease,Disorder,,,L73.2,,,,,,,,
251561,High-grade astrocytoma,Clinical group,Group of disorders,,0016680,,,,,,,,,
2150,Hirschsprung disease-type D brachydactyly syndrome,Malformation syndrome,Disorder,,0016294,Q43.1,306980,C4303481,C538319,,2700,Hirschsprung disease-type D brachydactyly syndrome,Neonatal,
251582,Gliomatosis cerebri,Disease,Disorder,2A00.0Y,0016683,C71.0,,C0334576,,10066254,6514,Gliomatosis cerebri,Adult,Not applicable
251579,Giant cell glioblastoma,Histopathological subtype,Subtype of disorder,XH8UC5,0016682,C71.9,,C0334588,,,,Giant cell glioblastoma,Adult,Not applicable
2152,Mowat-Wilson syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009341,Q43.1,235730,C1856113,C536990,,9673,Mowat-Wilson syndrome,"Antenatal, Neonatal",Autosomal dominant
2153,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,Malformation syndrome,Disorder,,0009344,Q43.1,235760,C1856110,C535615,,584,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,Neonatal,Autosomal recessive
251592,Low-grade astrocytoma,Clinical group,Group of disorders,,0016685,,,C1314694,,10065869,,,,
251589,Anaplastic astrocytoma,Disease,Disorder,2A00.0Y,0016684,C71.9,,C0334579,,10002224,5860,Anaplastic astrocytoma,Adult,Not applicable
251598,Protoplasmic astrocytoma,Histopathological subtype,Subtype of disorder,XH6UV4,0016687,C71.9,,C0334580,,,,Protoplasmic astrocytoma,Childhood,Not applicable
2155,Hirschsprung disease-deafness-polydactyly syndrome,Malformation syndrome,Disorder,LD2H.Y,0009342,Q43.1,235740,C2931452,C537235,,157,Hirschsprung disease-deafness-polydactyly syndrome,Neonatal,Autosomal recessive
251595,Diffuse astrocytoma,Disease,Disorder,2A00.0Y,0016686,D33.2,,C0280785,,,5907,Diffuse astrocytoma,"Adolescent, Adult, Childhood",
2156,OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
251604,Gemistocytic astrocytoma,Histopathological subtype,Subtype of disorder,2A00.0Y,0016689,C71.9,,C0334581,,,,,,
251601,Fibrillary astrocytoma,Histopathological subtype,Subtype of disorder,2A00.0Y,0016688,C71.9,,C0334582,,10065889,,,,
2158,Histidinuria-renal tubular defect syndrome,Disease,Disorder,,0009346,E70.8,235830,C0268642,C538321,,2708,Histidinuria-renal tubular defect syndrome,"Childhood, Infancy",
251612,Pilocytic astrocytoma,Disease,Disorder,XH12D2,0016691,C71.9,,C0334583,,,9808,Pilocytic astrocytoma,All ages,Not applicable
2163,Holoprosencephaly-craniosynostosis syndrome,Malformation syndrome,Disorder,LD20.3,0011059,Q04.2,601370,C1832424,C537684,,2454,Holoprosencephaly-craniosynostosis syndrome,"Antenatal, Neonatal",
251607,Pleomorphic xanthoastrocytoma,Disease,Disorder,XH99U2,0016690,C71.9,,C0334586,,,10631,Pleomorphic xanthoastrocytoma,All ages,Not applicable
251618,Subependymal giant cell astrocytoma,Disease,Disorder,XH1L48,0016693,D43.2,,C0205768,,,10632,,,
2165,Holoprosencephaly-caudal dysgenesis syndrome,Malformation syndrome,Disorder,,0016299,Q04.2,,C4749731,,,,Holoprosencephaly-caudal dysgenesis syndrome,"Antenatal, Neonatal",
251615,Pilomyxoid astrocytoma,Histopathological subtype,Subtype of disorder,2A00.0Y,0016692,C71.9,,C1519086,,,,Pilomyxoid astrocytoma,All ages,Not applicable
2166,Holoprosencephaly-postaxial polydactyly syndrome,Malformation syndrome,Disorder,,0009921,Q87.8,264480,C1849649,C535829,,344,Holoprosencephaly-postaxial polydactyly syndrome,"Antenatal, Neonatal",Autosomal recessive
251627,Oligodendroglioma,Disease,Disorder,XH7K31,0016695,C71.9,137800,C0028945,D009837,10030286,9953,Oligodendroglioma,All ages,Not applicable
2167,Holzgreve syndrome,Malformation syndrome,Disorder,,0009350,Q87.8,236110,C1856095,C535327,,2728,Holzgreve syndrome,"Antenatal, Neonatal",
251623,Pituicytoma,Disease,Disorder,2A00.0Y,0006372,D44.3,,C2986550,,10089140,,Pituicytoma,Adult,Not applicable
2169,Methylcobalamin deficiency type cblE,Clinical subtype,Subtype of disorder,5C50.B,0009354,E72.1,236270,C1856057,C565510,,,Methylcobalamin deficiency type cblE,Childhood,Autosomal recessive
251927,Extraventricular neurocytoma,Disease,Disorder,,0016727,C72.9,,C2985175,,,,,,
251931,Cerebellar liponeurocytoma,Disease,Disorder,,0006131,D33.1,,C1370507,,,10642,Cerebellar liponeurocytoma,Adult,Not applicable
2222,Hypertrichosis lanuginosa congenita,Disease,Disorder,LD27.0Y,0016381,Q84.2,307150,C0235864,C538389,,2865,Hypertrichosis lanuginosa congenita,Childhood,Autosomal dominant
251919,Pineal parenchymal tumor of intermediate differentiation,Disease,Disorder,XH1S48,0006369,D44.5,,C1367859,,,10644,,,
2220,Hypertrichosis cubiti,Malformation syndrome,Disorder,LD27.0Y,,Q84.2,139600,C1841696,C535618,10068636,143,Hypertrichosis cubiti,Childhood,Autosomal dominant
251924,Neuronal tumor,Clinical group,Group of disorders,,,,,C5680700,,,,,,
1051,Ramos-Arroyo syndrome,Malformation syndrome,Disorder,LD2H.Y,0007382,Q87.8,122430,C2930866,C535286,,4636,Ramos-Arroyo syndrome,"Infancy, Neonatal",Autosomal dominant
251940,Desmoplastic infantile astrocytoma/ganglioglioma,Disease,Disorder,2A00.21,0016731,D33.0,,C4757951,,,,Desmoplastic infantile astrocytoma/ganglioglioma,"Infancy, Neonatal",Not applicable
251946,Dysembryoplastic neuroepithelial tumor,Disease,Disorder,XH0H76,0005505,D33.0,,C1266177,,,10640,Dysembryoplastic neuroepithelial tumor,All ages,Not applicable
2228,Hypodontia-dysplasia of nails syndrome,Malformation syndrome,Disorder,LD27.0Y,0008582,Q82.4,189500,C0406735,C536736,,5587,Hypodontia-dysplasia of nails syndrome,Childhood,Autosomal dominant
2227,NON RARE IN EUROPE: Hypodontia,Morphological anomaly,Disorder,,,,,,,,,,,
251934,Mixed neuronal-glial tumor,Clinical group,Group of disorders,2A00.21,0016729,,,C5680701,,,,,,
2224,Hypertryptophanemia,Disease,Disorder,5C50.3,0010907,E70.8,600627,C2931837,C563467,,2871,Hypertryptophanemia,"Childhood, Infancy, Neonatal",Autosomal recessive
251937,Gangliocytoma,Disease,Disorder,2A00.21,0016730,D36.1,,C5779630,,,10638,Gangliocytoma,"Adolescent, Childhood, Infancy",
2232,Primary hypergonadotropic hypogonadism-partial alopecia syndrome,Disease,Disorder,GA30.6,0009420,E29.1,241090,C2931374,C536949,,,Primary hypergonadotropic hypogonadism-partial alopecia syndrome,Neonatal,Autosomal recessive
251962,Papillary glioneuronal tumor,Disease,Disorder,2A00.21,0016735,D33.0,,C2985174,,,,,,
251975,Rosette-forming glioneuronal tumor,Disease,Disorder,2A00.21,,D33.1,,C4331262,,,13593,,,
2230,Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,Disease,Disorder,5A61.0,0016384,E23.0,,C4303079,,,324,Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,Childhood,Autosomal dominant
251949,Ganglioglioma,Disease,Disorder,2A00.21,0016733,D33.0,,C0206716,D018303,10017701,2430,,,
2229,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,Malformation syndrome,Disorder,BC43.0,0008915,I42.0,212112,C0796083,C535580,,3373,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,"Infancy, Neonatal",Autosomal recessive
251957,Anaplastic ganglioglioma,Disease,Disorder,XH2GG3,0016734,D43.0,,C0431112,,10089832,10639,,,
252006,Yolk sac tumor of central nervous system,Clinical subtype,Subtype of disorder,2A00.1Y,0016739,C72.9,,C1337040,,,,,,
2238,Familial isolated hypoparathyroidism,Disease,Disorder,5A50.0Y,0016390,E20.8,601198,C1832648,C537156,10090580,2910,Familial isolated hypoparathyroidism,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
252015,Choriocarcinoma of the central nervous system,Disease,Disorder,2A00.1Y,0016740,C71.2,,C1332876,,,,,,
2237,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,Malformation syndrome,Disorder,LD27.0Y,0007797,Q87.8,146255,C1840333,C537907,10075281,2911,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,All ages,Autosomal dominant
2235,Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,Disease,Disorder,,0016386,E23.0,,C2931722,C538075,,,Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,No data available,Unknown
251992,Ganglioneuroma,Disease,Disorder,2A00.21,0005033,D36.1,,C0017075,D005729,10017709,,Ganglioneuroma,"Adolescent, Childhood, Infancy",
251995,Primary germ cell tumor of central nervous system,Category,Group of disorders,,,,,C5679625,,,,,,
2234,Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,Malformation syndrome,Disorder,,0010617,Q87.8,307500,C2931285,C536679,,4899,Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,Neonatal,Unknown
251867,Classic medulloblastoma,Histopathological subtype,Subtype of disorder,2A00.10,0016712,C71.6,155255,C1707400,,,,Classic medulloblastoma,Childhood,
2199,Epidermolytic palmoplantar keratoderma,Disease,Disorder,EC20.30,0007758,Q82.8,144200,C1721006,D053546,,2826,Epidermolytic palmoplantar keratoderma,"Infancy, Neonatal",Autosomal dominant
251863,Desmoplastic/nodular medulloblastoma,Histopathological subtype,Subtype of disorder,2A00.10,0016711,C71.6,155255,C0751291,,,,Desmoplastic/nodular medulloblastoma,Adult,Not applicable
2200,Focal palmoplantar and gingival keratoderma,Disease,Disorder,,0007860,Q82.8,148730,C1835650,C536157,,3098,Focal palmoplantar and gingival keratoderma,Childhood,
2198,Palmoplantar keratoderma-esophageal carcinoma syndrome,Disease,Disorder,EC20.31,0007856,Q82.8,148500,C1835664,C536164,,3102,Palmoplantar keratoderma-esophageal carcinoma syndrome,"Adolescent, Adult",Autosomal dominant
251858,Medulloblastoma with extensive nodularity,Histopathological subtype,Subtype of disorder,2A00.10,0016710,C71.6,155255,C1334970,,,,Medulloblastoma with extensive nodularity,"Childhood, Infancy",Not applicable
495,Transgrediens et progrediens palmoplantar keratoderma,Disease,Disorder,,0018853,Q82.8,133200,C1851480,,,3096,Transgrediens et progrediens palmoplantar keratoderma,Childhood,
251855,Anaplastic/large cell medulloblastoma,Histopathological subtype,Subtype of disorder,2A00.10,0016709,C71.6,,C4330531,,,,Anaplastic/large cell medulloblastoma,"Infancy, Neonatal",
251883,Medulloepithelioma of the central nervous system,Disease,Disorder,,,,,C5231013,,,,,,
2206,Ankylosing vertebral hyperostosis with tylosis,Malformation syndrome,Disorder,LD24.H,0007127,M48.1,106400,C0020498,,,842,Ankylosing vertebral hyperostosis with tylosis,Adult,Autosomal dominant
251880,Ependymoblastoma,Disease,Disorder,,,,,C0700367,,10014966,,,,
2201,Palmoplantar keratoderma-spastic paralysis syndrome,Disease,Disorder,,0016353,Q82.8,148360,C2931828,C538358,,3095,Palmoplantar keratoderma-spastic paralysis syndrome,All ages,Autosomal dominant
251877,Ganglioneuroblastoma,Disease,Disorder,2A00.11,0005035,C71.9,,C0206718,D018305,10017708,,Ganglioneuroblastoma,"Childhood, Infancy",Not applicable
2202,Palmoplantar keratoderma-deafness syndrome,Disease,Disorder,EC20.30,0007852,Q82.8,148350,C1835672,C536152,,3094,Palmoplantar keratoderma-deafness syndrome,Childhood,"Autosomal dominant, Mitochondrial inheritance"
251870,Central nervous system embryonal tumor,Clinical group,Group of disorders,,,,,C1333378,,,,Central nervous system embryonal tumor,Childhood,Not applicable
251902,Atypical papilloma of choroid plexus,Disease,Disorder,2A00.22,0002684,D33.1,,C1266176,,,,,,
251899,Choroid plexus carcinoma,Disease,Disorder,2A00.22,0016718,C71.7,260500,C0431109,C562943,10067478,8238,Choroid plexus carcinoma,Childhood,Autosomal dominant
2213,Hypertelorism-microtia-facial clefting syndrome,Malformation syndrome,Disorder,,0009404,Q87.0,239800,C0220742,C537632,,897,Hypertelorism-microtia-facial clefting syndrome,"Antenatal, Neonatal",Autosomal recessive
251896,Choroid plexus tumor,Clinical group,Group of disorders,2A00.22,0016717,,,C0085138,D016545,,,,,
251891,OBSOLETE: Atypical teratoid/rhabdoid tumor,Disease,Disorder,,,,,,,,,,,
2211,Hypertelorism-hypospadias-polysyndactyly syndrome,Malformation syndrome,Disorder,LD25.3,0009402,Q87.8,239710,C1855904,C538332,,287,Hypertelorism-hypospadias-polysyndactyly syndrome,Neonatal,Autosomal recessive
251915,Papillary tumor of the pineal region,Disease,Disorder,XH3904,0016724,D44.5,,C2985219,,,,Papillary tumor of the pineal region,All ages,Not applicable
251912,Pineocytoma,Disease,Disorder,2A00.20,0016723,D44.5,,C0917890,,10035059,8207,Pineocytoma,"Adult, Elderly",
2218,Cervical hypertrichosis-peripheral neuropathy syndrome,Disease,Disorder,LD27.3,0009405,G60.0,239840,C4303793,,,1226,Cervical hypertrichosis-peripheral neuropathy syndrome,Childhood,Autosomal recessive
251909,Pineoblastoma,Disease,Disorder,2A00.20,0016722,C75.3,,C0205898,,10050487,9369,Pineoblastoma,"Adolescent, Adult, Childhood, Infancy",Not applicable
2215,Multiple pterygium-malignant hyperthermia syndrome,Malformation syndrome,Disorder,,0009012,G71.8,217150,C4304748,,,3361,Multiple pterygium-malignant hyperthermia syndrome,Neonatal,Autosomal recessive
251905,Pineal tumor of neuroepithelial tissue,Clinical group,Group of disorders,,,,,C5680702,,,,,,
2216,Maternal hyperthermia-induced birth defects,Malformation syndrome,Disorder,LD2F.Y,0016378,Q86.8,,C4707329,,,2856,Maternal hyperthermia-induced birth defects,"Antenatal, Neonatal",
251019,2q32q33 deletion syndrome,Malformation syndrome,Disorder,LD44.20,0012864,Q93.5,612313,C4304531,,,,2q32q33 deletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2266,"Hypotrichosis-intellectual disability, Lopes type",Disease,Disorder,,0016414,Q82.4,,C4509839,,,,"Hypotrichosis-intellectual disability, Lopes type","Childhood, Infancy",Autosomal recessive
251028,SATB2-associated syndrome due to a chromosomal rearrangement,Etiological subtype,Subtype of disorder,,0016653,Q93.5,612313,C4706258,,,,SATB2-associated syndrome due to a chromosomal rearrangement,"Infancy, Neonatal","Not applicable, Unknown"
2269,Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,Disease,Disorder,LD27.0Y,0009444,Q82.4,242510,C1855788,C537364,,292,Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
2267,OBSOLETE: Ichthyosis-cheek-eyebrow syndrome,Disease,Disorder,,,,,,,,,,,
251038,3q29 microduplication syndrome,Malformation syndrome,Disorder,LD41.20,0012761,Q92.3,611936,C2749873,C567626,,10360,3q29 microduplication syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
250999,1q41q42 microdeletion syndrome,Malformation syndrome,Disorder,LD44.10,0012927,Q93.5,612530,C4274528,,,3738,1q41q42 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2261,"Hypospadias-intellectual disability, Goldblatt type syndrome",Malformation syndrome,Disorder,,0009435,Q87.8,241760,C4274844,,,2928,"Hypospadias-intellectual disability, Goldblatt type syndrome","Infancy, Neonatal",
251004,Paternal uniparental disomy of chromosome 1 syndrome,Malformation syndrome,Disorder,LD45.1,0016650,Q99.8,,C4707800,,,,Paternal uniparental disomy of chromosome 1 syndrome,"Infancy, Neonatal","Not applicable, Unknown"
251009,Maternal uniparental disomy of chromosome 1 syndrome,Malformation syndrome,Disorder,LD45.0,0016651,Q99.8,,C4749302,,,,Maternal uniparental disomy of chromosome 1 syndrome,"Infancy, Neonatal","Not applicable, Unknown"
672,Pallister-Hall syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007804,Q87.8,146510,C0265220,D054975,10089178,7305,Pallister-Hall syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
251014,2q31.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.20,0016652,Q93.5,,C4274647,,,,2q31.1 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
455,Superficial epidermolytic ichthyosis,Disease,Disorder,EC20.03,0007813,Q80.8,146800,C0432306,D053560,,2966,Superficial epidermolytic ichthyosis,"Infancy, Neonatal",Autosomal dominant
251061,7q31 microdeletion syndrome,Malformation syndrome,Disorder,LD44.70,0016656,Q93.5,,C4750783,,,,7q31 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
251066,8p11.2 deletion syndrome,Malformation syndrome,Disorder,LD44.81,0016657,Q93.5,,C4304505,,,,8p11.2 deletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2272,Ichthyosis-oral and digital anomalies syndrome,Malformation syndrome,Disorder,LD27.2,0009792,Q87.8,258840,C4518538,,,2960,Ichthyosis-oral and digital anomalies syndrome,"Infancy, Neonatal",Autosomal recessive
251071,8p23.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.81,0016658,Q93.5,,C2931638,C537827,,3769,8p23.1 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2274,Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,Disease,Disorder,,0009445,Q87.8,242520,C1275088,C535727,,1993,Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
251076,8p23.1 duplication syndrome,Malformation syndrome,Disorder,LD41.71,0016659,Q92.3,,C4707330,,,10304,8p23.1 duplication syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
2273,Ichthyosis follicularis-alopecia-photophobia syndrome,Disease,Disorder,LD27.2,0100213,Q80.8,619016,C1839988,C536085,,2952,Ichthyosis follicularis-alopecia-photophobia syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable, X-linked recessive"
251043,Ring chromosome 5 syndrome,Malformation syndrome,Disorder,LD7Y,0016654,Q93.2,,C4707450,,,10841,Ring chromosome 5 syndrome,"Infancy, Neonatal","Not applicable, Unknown"
165,Neutral lipid storage disease,Clinical group,Group of disorders,5C52.2,0015611,,,C5848057,,,3262,Neutral lipid storage disease,"Infancy, Neonatal",Autosomal recessive
139,CHILD syndrome,Disease,Disorder,LD24.04,0010621,Q87.8,308050,C0265267,C562515,10081963,6039,CHILD syndrome,"Antenatal, Infancy, Neonatal",X-linked dominant
251046,6p22 microdeletion syndrome,Malformation syndrome,Disorder,LD44.61,0016655,Q93.5,,C4304528,,,,6p22 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
457,Harlequin ichthyosis,Disease,Disorder,EC20.02,0009443,Q80.4,242500,C0239849,C538424,10019163,6568,Harlequin ichthyosis,Neonatal,Autosomal recessive
2271,Congenital ichthyosis-microcephalus-tetraplegia syndrome,Disease,Disorder,,0016417,Q87.8,,C5679626,,,,Congenital ichthyosis-microcephalus-tetraplegia syndrome,"Infancy, Neonatal",Unknown
251056,6q25.2q25.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.60,0013025,Q93.5,612863,C4304527,,,3764,6q25.2q25.3 microdeletion syndrome,"Infancy, Neonatal",Not applicable
250808,Serpinopathy with toxic serpin polymerization,Category,Group of disorders,,,,,C5680703,,,,,,
2245,OBSOLETE: Hypopituitarism-postaxial polydactyly syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
250805,Serpinopathy,Category,Group of disorders,,0027749,,,C5680704,,,,,,
2246,Cerebellar hypoplasia-tapetoretinal degeneration syndrome,Malformation syndrome,Disorder,LD20.0Y,0016392,Q04.3,213000,C4275139,,,1196,Cerebellar hypoplasia-tapetoretinal degeneration syndrome,Infancy,
250831,Logopenic progressive aphasia,Disease,Disorder,6D83,0016644,G31.0,,C4274665,,,10791,Logopenic progressive aphasia,Adult,"Multigenic/multifactorial, Not applicable"
2249,Ulna hypoplasia-intellectual disability syndrome,Malformation syndrome,Disorder,,0010165,Q87.2,276821,C4304398,C536934,,5398,Ulna hypoplasia-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
250811,Serpinopathy with loss of serpin function,Category,Group of disorders,,,,,C5680705,,,,,,
2239,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,Clinical subtype,Subtype of disorder,5A50.0Y,0010618,E20.8,146200,C5680706,,,,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,Malformation syndrome,Disorder,LD2F.1Y,,Q43.8,249210,C1608393,C536138,10064596,3442,Megacystis-microcolon-intestinal hypoperistalsis syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
2243,Hypopituitarism-micropenis-cleft lip/palate syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
250984,Autosomal recessive Stickler syndrome,Clinical subtype,Subtype of disorder,LD2F.1Y,,Q87.5,614284,C5439212,,,,Autosomal recessive Stickler syndrome,Childhood,Autosomal recessive
2256,Fibulo-ulnar hypoplasia-renal anomalies syndrome,Malformation syndrome,Disorder,,0009233,Q87.8,228940,C1856727,C537226,,320,Fibulo-ulnar hypoplasia-renal anomalies syndrome,"Antenatal, Neonatal",
2257,Primary pulmonary hypoplasia,Morphological anomaly,Disorder,LA75.2,0009936,Q33.6,265430,C0456891,,,,Primary pulmonary hypoplasia,Neonatal,
250977,AICA-ribosiduria,Disease,Disorder,5C55.0Y,0012099,E79.8,608688,C1837530,C563876,,,AICA-ribosiduria,"Antenatal, Infancy, Neonatal",Autosomal recessive
2258,OBSOLETE: Congenital unilateral pulmonary hypoplasia,Morphological anomaly,Disorder,,,,,,,,,,,
250994,1q21.1 microduplication syndrome,Malformation syndrome,Disorder,LD41.00,0012915,Q92.3,612475,C4749853,,,10591,1q21.1 microduplication syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
250989,1q21.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.10,0012914,Q93.5,612474,C2675897,C567291,,10813,1q21.1 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2250,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,Disease,Disorder,,0016393,Q87.0,603457,C4510568,,,,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,"Antenatal, Neonatal","Autosomal dominant, Unknown"
250923,Isolated aniridia,Morphological anomaly,Disorder,LA11.3,0007119,Q13.1,617141,C0003076,,,5816,Isolated aniridia,Neonatal,"Autosomal dominant, Not applicable"
2251,Thumb deformity-alopecia-pigmentation anomaly syndrome,Malformation syndrome,Disorder,LD27.0Y,0008562,Q87.1,188150,C1861168,C536904,,5199,Thumb deformity-alopecia-pigmentation anomaly syndrome,"Infancy, Neonatal",
250908,Rare neoplastic disease,Category,Group of disorders,,,,,C5679627,,,,,,
2252,Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,Malformation syndrome,Disorder,,0008357,Q87.2,179250,C1867397,C536262,,258,Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,Neonatal,
250972,Polymicrogyria with optic nerve hypoplasia,Malformation syndrome,Disorder,,0013172,Q04.3,,C2750798,C567715,,,Polymicrogyria with optic nerve hypoplasia,"Infancy, Neonatal",Autosomal recessive
2255,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,Disease,Disorder,KB60.2Y,0010802,Q87.8,600001,C2931296,C536714,,347,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,All ages,Autosomal dominant
250932,Autosomal dominant optic atrophy and peripheral neuropathy,Disease,Disorder,9C40.B1,0016646,H47.2,,C4273829,,,,Autosomal dominant optic atrophy and peripheral neuropathy,Childhood,Autosomal dominant
251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,Disease,Disorder,3A51.3,0016672,D57.2,305435,C5190890,,,,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,All ages,Autosomal recessive
2306,Isotretinoin-like syndrome,Malformation syndrome,Disorder,,0009473,Q87.8,243440,C0432364,C535542,,9675,Isotretinoin-like syndrome,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
251383,CK syndrome,Malformation syndrome,Disorder,,0010441,Q87.0,300831,C3151781,,,,CK syndrome,"Infancy, Neonatal",X-linked recessive
2305,Isotretinoin syndrome,Malformation syndrome,Disorder,LD2F.0Y,0016467,Q86.8,,C2930972,C535670,,,Isotretinoin syndrome,"Antenatal, Infancy, Neonatal",Not applicable
251370,Sickle cell S-D Punjab disease,Clinical subtype,Subtype of disorder,3A51.3,0016670,D57.2,,C0272084,,10056724,12458,Sickle cell S-D Punjab disease,All ages,Autosomal recessive
251375,Sickle cell S-E disease,Clinical subtype,Subtype of disorder,3A51.3,0016671,D57.2,,C1112747,,,,Sickle cell S-E disease,All ages,Autosomal recessive
251359,Sickle cell-beta-thalassemia disease,Disease,Disorder,3A51.4,0016668,D57.2,,C0221019,,10040655,10333,Sickle cell-beta-thalassemia disease,All ages,Autosomal recessive
251365,Sickle cell S-C disease,Disease,Disorder,3A51.3,0016669,D57.2,,C0019034,D006450,10057072,6584,Sickle cell S-C disease,All ages,Autosomal recessive
2295,Familial articular hypermobility syndrome,Disease,Disorder,LD28.Y,0007842,Q79.6,147900,C0268349,C535884,,3054,Familial articular hypermobility syndrome,"Adolescent, Childhood, Infancy",Autosomal dominant
251355,OBSOLETE: Sickle cell disease associated with another hemoglobin anomaly,Category,Group of disorders,,,,,,,,,,,
2292,OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
251535,Maternal disease-related embryofetopathy,Category,Group of disorders,,,,,C5680708,,,,,,
2319,Juberg-Hayward syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008992,Q87.0,216100,C0796099,C537690,,3060,Juberg-Hayward syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
251558,Rare tumor of neuroepithelial tissue,Category,Group of disorders,,,,,C5680709,,,,,,
251523,Hyperzincemia and hypercalprotectinemia,Disease,Disorder,,,E83.2,601979,C4760957,C565988,10081947,,Hyperzincemia and hypercalprotectinemia,Childhood,Unknown
2316,Johnson neuroectodermal syndrome,Malformation syndrome,Disorder,LD27.0Y,0007837,Q87.8,147770,C0796002,C535882,,378,Johnson neuroectodermal syndrome,Childhood,Autosomal dominant
251529,Toxic or drug-related embryofetopathy,Category,Group of disorders,LD2F.0,0016677,,,C5680710,,,,,,
2315,Johanson-Blizzard syndrome,Malformation syndrome,Disorder,LD27.0Y,0009479,Q87.8,243800,C0175692,C535880,10074947,80,Johanson-Blizzard syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
251510,"46,XY partial gonadal dysgenesis",Malformation syndrome,Disorder,LD2A.1,0016674,Q56.1,615542,C4510744,,,,"46,XY partial gonadal dysgenesis","Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked"
251515,Distal arthrogryposis type 10,Malformation syndrome,Disorder,,0016675,Q68.8,187370,C1861238,C566069,,,Distal arthrogryposis type 10,"Infancy, Neonatal",Autosomal dominant
2310,Absence deformity of leg-cataract syndrome,Malformation syndrome,Disorder,,0009516,Q87.2,246000,C4274843,,,,Absence deformity of leg-cataract syndrome,Antenatal,
2309,Pachyonychia congenita,Disease,Disorder,LD27.Y,0016471,Q84.5,615728,C0265334,D053549,10080088,10753,Pachyonychia congenita,All ages,"Autosomal dominant, Autosomal recessive"
251393,Localized junctional epidermolysis bullosa,Disease,Disorder,EC31,0016673,Q81.8,226650,C0474889,,,,Localized junctional epidermolysis bullosa,"Infancy, Neonatal",Autosomal recessive
2307,IVIC syndrome,Malformation syndrome,Disorder,,0007836,Q71.8,147750,C1327918,C535544,,269,IVIC syndrome,"Antenatal, Neonatal",Autosomal dominant
251295,Pigmented paravenous retinochoroidal atrophy,Disease,Disorder,9B7Y,0008246,H35.5,172870,C1868310,C566801,,,Pigmented paravenous retinochoroidal atrophy,All ages,"Autosomal dominant, Not applicable"
251290,Parietal foramina with clavicular hypoplasia,Malformation syndrome,Disorder,LB70.Y,0008198,Q74.0,168550,C1868597,C566825,,,Parietal foramina with clavicular hypoplasia,"Infancy, Neonatal",Autosomal dominant
2282,Dysmorphism-short stature-deafness-difference of sex development syndrome,Malformation syndrome,Disorder,,0016433,Q87.8,,C4518561,,,,Dysmorphism-short stature-deafness-difference of sex development syndrome,"Infancy, Neonatal",Autosomal recessive
251287,Benign concentric annular macular dystrophy,Disease,Disorder,9B75.Y,0007934,H35.5,153870,C4304667,,,9887,Benign concentric annular macular dystrophy,Childhood,Autosomal dominant
251282,Autosomal dominant spastic ataxia type 1,Disease,Disorder,8A03.1Y,0007164,G11.4,108600,C1970107,C566993,,,Autosomal dominant spastic ataxia type 1,"Adolescent, Adult, Childhood",Autosomal dominant
251279,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,Disease,Disorder,LA10.Y,0012605,Q15.8,611040,C4755272,,,,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,Adult,Autosomal recessive
251274,Familial hyperaldosteronism type III,Disease,Disorder,5A72.0,0013359,E26.0,613677,C3838758,,,12362,Familial hyperaldosteronism type III,"Adolescent, Childhood, Infancy",Autosomal dominant
2278,Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,Malformation syndrome,Disorder,,0009446,Q87.1,242530,C4518580,C536274,,4641,Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,Neonatal,
251262,Familial osteochondritis dissecans,Disease,Disorder,FB82.1,0100462,M93.2,,C3665488,C580095,,4133,Familial osteochondritis dissecans,Childhood,Autosomal dominant
2291,Congenital velopharyngeal incompetence,Morphological anomaly,Disorder,LA50,0008180,J39.2,167500,C1997202,,,5470,Congenital velopharyngeal incompetence,Neonatal,Autosomal dominant
251347,Ataxia-telangiectasia-like disorder,Disease,Disorder,4A01.31,0024557,G11.3,604391,C1858391,C565779,,,Ataxia-telangiectasia-like disorder,"Infancy, Neonatal",Autosomal recessive
251332,Unexplained long-lasting fever/inflammatory syndrome,Disease,Disorder,MG26,0016666,R50.8,,C5679630,,,,Unexplained long-lasting fever/inflammatory syndrome,All ages,
251328,Unclassified vasculitis,Disease,Disorder,4A44.Y,0016665,I77.6,,C5680712,,,,Unclassified vasculitis,,Not applicable
2289,Neuronal intranuclear inclusion disease,Disease,Disorder,8A0Y,0011327,G31.0,603472,C1863843,C537395,10084235,3971,Neuronal intranuclear inclusion disease,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
251325,Drug-induced vasculitis,Disease,Disorder,4A85.03,0016664,M31.8,,C0340672,,,,,,
2290,Microvillus inclusion disease,Disease,Disorder,DA90.Y,0009635,P78.3,251850,C0341306,C537470,10068494,7039,Microvillus inclusion disease,"Infancy, Neonatal",Autosomal recessive
251316,OBSOLETE: Unclassified overlapping connective tissue disease,Disease,Disorder,,,,,,,,,,,
2287,Fused mandibular incisors,Morphological anomaly,Disorder,LA30.4,0007820,K00.2,147251,C3494175,,,2419,Fused mandibular incisors,"Adolescent, Adult, Childhood",
251312,Overlapping connective tissue disease,Clinical group,Group of disorders,,0016663,M35.1,,C1858556,,,,,,
2285,Primary basilar invagination,Morphological anomaly,Disorder,,0007188,Q75.8,109500,C5679631,,,1037,Primary basilar invagination,All ages,Autosomal dominant
251307,Idiopathic recurrent pericarditis,Disease,Disorder,BB2Y,0016662,I09.2,,C4707790,,,,Idiopathic recurrent pericarditis,All ages,Not applicable
2286,OBSOLETE: Solitary median maxillary central incisor syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
251304,Infantile onset panniculitis with uveitis and systemic granulomatosis,Disease,Disorder,EB7Y,0016661,M08.8,,C4750785,,,,Infantile onset panniculitis with uveitis and systemic granulomatosis,"Infancy, Neonatal",Not applicable
2675,OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome,Disease,Disorder,,,,,,,,,,,
254843,Exercise intolerance with lactic acidosis,Clinical group,Group of disorders,,,,,C5680714,,,,,,
2674,Cyprus facial-neuromusculoskeletal syndrome,Malformation syndrome,Disorder,,0007413,Q87.8,123853,C1852396,C536229,,9487,Cyprus facial-neuromusculoskeletal syndrome,"Antenatal, Neonatal",Autosomal dominant
254846,Isolated oxidative phosphorylation complex disorder,Category,Group of disorders,,,,,C5679632,,,,,,
254837,Unspecified mitochondrial disorder,Clinical group,Group of disorders,,,,,C5680715,,,,Unspecified mitochondrial disorder,,"Autosomal recessive, X-linked recessive"
2673,Neurofaciodigitorenal syndrome,Malformation syndrome,Disorder,,0009740,Q87.8,256690,C0796088,C537388,,3964,Neurofaciodigitorenal syndrome,"Antenatal, Neonatal",
2672,Neuhauser-Eichner-Opitz syndrome,Malformation syndrome,Disorder,,0007539,G93.4,130950,C1851708,C536407,,,Neuhauser-Eichner-Opitz syndrome,"Childhood, Infancy",Autosomal dominant
2679,OBSOLETE: Infantile axonal neuropathy,Disease,Disorder,,,,,,,,,,,
254857,Lethal infantile mitochondrial myopathy,Disease,Disorder,8C73.Y,0010792,G71.3,551000,C1838876,C564017,,,Lethal infantile mitochondrial myopathy,"Infancy, Neonatal",Mitochondrial inheritance
2678,Familial isolated café-au-lait macules,Malformation syndrome,Disorder,EC23.0,,L81.3,114030,C1861975,,,3967,Familial isolated café-au-lait macules,Childhood,Autosomal dominant
254864,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,Disease,Disorder,8C73.Y,0010780,G71.3,500009,C5191317,,,,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,"Infancy, Neonatal",Mitochondrial inheritance
2676,Neuroectodermal-endocrine syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
254851,Mitochondrial DNA-related dystonia,Disease,Disorder,8C73.Y,0016806,E88.8,,C4274074,,,,Mitochondrial DNA-related dystonia,Childhood,Mitochondrial inheritance
254854,Pure mitochondrial myopathy,Disease,Disorder,8C73.Y,0016807,G71.3,,C4517289,,,,Pure mitochondrial myopathy,"Adolescent, Childhood",Mitochondrial inheritance
2668,Nephropathy-deafness-hyperparathyroidism syndrome,Malformation syndrome,Disorder,LD2H.Y,0009729,Q87.8,256120,C4518325,C536401,,3940,Nephropathy-deafness-hyperparathyroidism syndrome,Childhood,Autosomal recessive
254807,Multiple mitochondrial DNA deletion syndrome,Category,Group of disorders,5C53.21,,,,C5679633,,,,,,
2663,Nathalie syndrome,Malformation syndrome,Disorder,LD2F.1,0009721,Q87.8,255990,C1850626,C538342,,3929,Nathalie syndrome,Childhood,
254818,Ataxia neuropathy spectrum,Clinical group,Group of disorders,,0016798,,,C3683791,C579922,,,,,
2662,Keipert syndrome,Malformation syndrome,Disorder,,0009720,Q87.0,301026,C1850627,C538337,,267,Keipert syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
254793,OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA,Category,Group of disorders,,,,,,,,,,,
2661,Dwarfism-tall vertebrae syndrome,Malformation syndrome,Disorder,,,,126950,C1851996,C535725,,,,,
254803,"Mitochondrial DNA depletion syndrome, encephalomyopathic form",Clinical group,Group of disorders,,0016796,,612075,C4707428,,,,"Mitochondrial DNA depletion syndrome, encephalomyopathic form","Infancy, Neonatal",Autosomal recessive
2671,Neu-Laxova syndrome,Malformation syndrome,Disorder,LD20.1,0000179,Q87.8,616038,C0265218,C536405,,102,Neu-Laxova syndrome,Antenatal,Autosomal recessive
254830,Mitochondrial substrate carrier disorder,Category,Group of disorders,5C53.30,0016801,,,C5680716,,,,,,
1475,Renal coloboma syndrome,Malformation syndrome,Disorder,LA13.7Y,0007352,Q60.4,120330,C1852759,C537168,10090293,4106,Renal coloboma syndrome,Childhood,Autosomal dominant
254834,Mitochondrial protein import disorder,Category,Group of disorders,5C53.31,0016802,,,C5680717,,,,,,
2670,Pierson syndrome,Malformation syndrome,Disorder,GB41,0012184,Q13.8,609049,C1836876,C537185,,9420,Pierson syndrome,"Childhood, Neonatal",Autosomal recessive
254822,Mitochondrial oxidative phosphorylation disorder with no known mechanism,Category,Group of disorders,,,,,C5679634,,,,,,
2669,Nephrosis-deafness-urinary tract-digital malformations syndrome,Malformation syndrome,Disorder,LD2H.Y,0009731,Q87.8,256200,C4510366,C536402,,3943,Nephrosis-deafness-urinary tract-digital malformations syndrome,"Infancy, Neonatal",Unknown
254827,Mitochondrial membrane transport disorder,Category,Group of disorders,5C53.3,0016800,,,C5680718,,,,,,
254930,Combined oxidative phosphorylation defect type 7,Disease,Disorder,5C53.23,0013306,E88.8,613559,C3150801,,,,Combined oxidative phosphorylation defect type 7,"Childhood, Infancy",Autosomal recessive
254925,Combined oxidative phosphorylation defect type 4,Disease,Disorder,5C53.23,0012534,E88.8,610678,C1857682,C565690,,,Combined oxidative phosphorylation defect type 4,Neonatal,Autosomal recessive
2697,Arthrogryposis-renal dysfunction-cholestasis syndrome,Malformation syndrome,Disorder,5C58.0Y,0017123,Q89.7,208085,C4551984,C535382,,794,Arthrogryposis-renal dysfunction-cholestasis syndrome,Neonatal,Autosomal recessive
2694,OBSOLETE: Epidermal nevus-vitamin D-resistant rickets syndrome,Disease,Disorder,,,,,,,,,,,
254920,Combined oxidative phosphorylation defect type 2,Disease,Disorder,5C53.23,0012510,E88.8,610498,C1864843,C566468,,,Combined oxidative phosphorylation defect type 2,Neonatal,Autosomal recessive
2695,Bifid nose,Malformation syndrome,Disorder,LA70.1,0000110,Q30.2,210400,C0221363,C535441,,884,Bifid nose,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
254913,Isolated ATP synthase deficiency,Disease,Disorder,5C53.25,0014471,E88.8,614053,C4757950,,,,Isolated ATP synthase deficiency,Neonatal,Autosomal recessive
255182,Pyruvate dehydrogenase E3-binding protein deficiency,Clinical subtype,Subtype of disorder,5C53.02,0009503,E74.4,245349,C1855553,C565447,,,Pyruvate dehydrogenase E3-binding protein deficiency,"Infancy, Neonatal",Autosomal recessive
2701,Noonan syndrome-like disorder with loose anagen hair,Malformation syndrome,Disorder,LD2F.1Y,0011899,Q87.1,617506,C1843181,,,10719,Noonan syndrome-like disorder with loose anagen hair,"Antenatal, Infancy, Neonatal",Autosomal dominant
255138,Pyruvate dehydrogenase E1-beta deficiency,Clinical subtype,Subtype of disorder,5C53.02,0013580,E74.4,614111,C3279841,C566729,,,Pyruvate dehydrogenase E1-beta deficiency,Childhood,Autosomal recessive
255132,Adult-onset autosomal recessive sideroblastic anemia,Disease,Disorder,3A72.00,0014804,D64.0,616860,C4304054,,,,Adult-onset autosomal recessive sideroblastic anemia,Adult,Autosomal recessive
2698,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,Disease,Disorder,LD2H.Y,0007866,Q82.8,149200,C0266004,C537210,,3125,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,Childhood,Autosomal dominant
255117,OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness,Disease,Disorder,,,,,,,,,,,
2699,Median nodule of the upper lip,Malformation syndrome,Disorder,,0007904,Q18.8,151630,C1835396,,,3440,Median nodule of the upper lip,"Infancy, Neonatal",Autosomal dominant
254886,Autosomal recessive progressive external ophthalmoplegia,Disease,Disorder,9C82.0,0016810,H49.4,617069,C1850303,C564926,,1191,Autosomal recessive progressive external ophthalmoplegia,All ages,Autosomal recessive
254881,Spinocerebellar ataxia with epilepsy,Disease,Disorder,5C53.21,0016809,E88.8,607459,C1843852,C564395,,,Spinocerebellar ataxia with epilepsy,"Adolescent, Childhood",Autosomal recessive
254875,"Mitochondrial DNA depletion syndrome, myopathic form",Disease,Disorder,5C53.20,0012301,G71.3,609560,C3501891,C563698,,,"Mitochondrial DNA depletion syndrome, myopathic form","Infancy, Neonatal",Autosomal recessive
254871,"Mitochondrial DNA depletion syndrome, hepatocerebral form",Clinical group,Group of disorders,,0100512,,,C3711385,C580039,,,"Mitochondrial DNA depletion syndrome, hepatocerebral form","Infancy, Neonatal",Autosomal recessive
254905,Isolated cytochrome C oxidase deficiency,Disease,Disorder,5C53.2Y,0009068,E88.8,619052,C5779825,D030401,,48,Isolated cytochrome C oxidase deficiency,,"Autosomal recessive, Mitochondrial inheritance"
254902,Renal tubulopathy-encephalopathy-liver failure syndrome,Disease,Disorder,5C53.2Y,0016811,E88.8,124000,C4274075,,,,Renal tubulopathy-encephalopathy-liver failure syndrome,"Infancy, Neonatal",Autosomal recessive
2690,Neutropenia-monocytopenia-deafness syndrome,Disease,Disorder,LD2H.Y,0017100,D82.8,,C4518430,,,,Neutropenia-monocytopenia-deafness syndrome,"Infancy, Neonatal",Unknown
254898,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,Disease,Disorder,5C53.22,0013837,E88.8,614651,C4706538,,,,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,"Infancy, Neonatal",Autosomal recessive
2691,Nevo syndrome,Malformation syndrome,Disorder,,,,,C2936777,C536113,,,,,
254892,Autosomal dominant progressive external ophthalmoplegia,Disease,Disorder,9C82.0,0008003,H49.4,157640,C5231255,,,,Autosomal dominant progressive external ophthalmoplegia,"Adolescent, Adult",Autosomal dominant
2712,Oculofaciocardiodental syndrome,Malformation syndrome,Disorder,LD21.0,,Q87.8,300166,C1846265,,,4628,Oculofaciocardiodental syndrome,"Infancy, Neonatal",X-linked dominant
2714,Oculo-palato-cerebral syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009769,Q87.1,257910,C1850338,C564935,,,Oculo-palato-cerebral syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
2713,Oculoosteocutaneous syndrome,Malformation syndrome,Disorder,LD27.0Y,0008884,Q87.5,211370,C1859385,C565893,,992,Oculoosteocutaneous syndrome,"Infancy, Neonatal",Autosomal recessive
2716,OBSOLETE: Oculo-skeletal-renal syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2715,Severe oculo-renal-cerebellar syndrome,Malformation syndrome,Disorder,,,Q04.8,257970,C1850331,C537739,,4050,Severe oculo-renal-cerebellar syndrome,Infancy,Autosomal recessive
2718,Oculotrichodysplasia,Malformation syndrome,Disorder,LD27.0Y,0009771,Q82.4,257960,C1850332,C564934,,,Oculotrichodysplasia,Childhood,Autosomal recessive
2717,Oculotrichoanal syndrome,Malformation syndrome,Disorder,,0009560,Q87.8,248450,C1855425,C536022,,3395,Oculotrichoanal syndrome,"Infancy, Neonatal",Autosomal recessive
2704,Urofacial syndrome,Malformation syndrome,Disorder,LD2F.1Y,0000463,N31.8,615112,C0403555,C536480,10089227,104,Urofacial syndrome,Childhood,Autosomal recessive
255199,OBSOLETE: Sporadic Leigh syndrome,Disease,Disorder,,,,,,,,,,,
2703,Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,Malformation syndrome,Disorder,,0100367,Q03.8,,C5191040,,,,Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,Antenatal,
255210,Mitochondrial DNA-associated Leigh syndrome,Disease,Disorder,8C73.Y,0016814,E88.8,500017,C2931092,C536035,,3671,Mitochondrial DNA-associated Leigh syndrome,"Childhood, Infancy",Mitochondrial inheritance
2706,OBSOLETE: Oculocerebroacral syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2705,OBSOLETE: Oculocerebral dysplasia,Malformation syndrome,Disorder,,,,,,,,,,,
255225,OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy,Disease,Disorder,,,,,,,,,,,
2708,OBSOLETE: Oculocerebroosseous syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
255229,Navajo neurohepatopathy,Disease,Disorder,5C53.20,0009747,E88.8,256810,C1850406,C538344,,3972,Navajo neurohepatopathy,"Childhood, Infancy",Autosomal recessive
2707,"Oculocerebrofacial syndrome, Kaufman type",Malformation syndrome,Disorder,,0009485,Q87.0,244450,C1855663,C537013,,3084,"Oculocerebrofacial syndrome, Kaufman type","Antenatal, Neonatal",Autosomal recessive
255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",Disease,Disorder,5C53.20,0012792,G31.8,612075,C2749861,,,13200,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy","Infancy, Neonatal",Autosomal recessive
2710,Oculodentodigital dysplasia,Malformation syndrome,Disorder,LD27.0Y,0008111,Q87.8,257850,C0812437,C563160,10063691,7239,Oculodentodigital dysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
255241,Leigh syndrome with leukodystrophy,Disease,Disorder,,,,,C5679635,,,,,,
2709,"Oculodental syndrome, Rutherfurd type",Malformation syndrome,Disorder,9A70.Y,0008396,Q87.8,180900,C0796140,C537732,,212,"Oculodental syndrome, Rutherfurd type","Infancy, Neonatal",Autosomal dominant
255249,Leigh syndrome with nephrotic syndrome,Disease,Disorder,,,,,C5190833,,,,,,
2728,"Blepharophimosis-intellectual disability syndrome, Ohdo type",Malformation syndrome,Disorder,LD2F.1Y,0009583,Q87.8,249620,C0796094,C536232,,3348,"Blepharophimosis-intellectual disability syndrome, Ohdo type","Infancy, Neonatal",Not applicable
2730,Postaxial tetramelic oligodactyly,Malformation syndrome,Disorder,,0008298,Q73.8,176240,C1867924,C566767,,4065,Postaxial tetramelic oligodactyly,Neonatal,
2731,Taurodontia-absent teeth-sparse hair syndrome,Malformation syndrome,Disorder,,,,272980,C1848909,C536945,,,,,
2732,Olivopontocerebellar atrophy-deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0017135,Q04.8,,C4275113,,,4070,Olivopontocerebellar atrophy-deafness syndrome,"Infancy, Neonatal",Autosomal recessive
2733,Omodysplasia,Malformation syndrome,Disorder,LD24.A,0017136,Q78.8,258315,C4510897,,,,Omodysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
2719,"Oculocerebral hypopigmentation syndrome, Cross type",Malformation syndrome,Disorder,EC23.20,0009767,E70.3,257800,C2936910,,,105,"Oculocerebral hypopigmentation syndrome, Cross type",Neonatal,
2720,"Oculocerebral hypopigmentation syndrome, Preus type",Malformation syndrome,Disorder,,0009766,E70.3,257790,C2931646,C537866,,4034,"Oculocerebral hypopigmentation syndrome, Preus type",Neonatal,
2721,Odonto-onycho-dermal dysplasia,Disease,Disorder,LD27.0Y,0009773,Q82.4,257980,C0796093,C537742,,4054,Odonto-onycho-dermal dysplasia,Childhood,Autosomal recessive
2722,Odonto-onycho dysplasia-alopecia syndrome,Malformation syndrome,Disorder,LD27.0Y,0017134,Q82.4,,C4706599,,,4051,Odonto-onycho dysplasia-alopecia syndrome,Neonatal,
2723,Odontotrichomelic syndrome,Malformation syndrome,Disorder,LD27.0Y,0010111,Q82.4,273400,C2930960,C535637,,2381,Odontotrichomelic syndrome,Childhood,Autosomal recessive
2724,Odontomatosis-aortae esophagus stenosis syndrome,Malformation syndrome,Disorder,,0008118,D16.5,164330,C1834013,C537740,,238,Odontomatosis-aortae esophagus stenosis syndrome,No data available,
260305,Autosomal recessive sideroblastic anemia,Disease,Disorder,3A72.00,0016828,D64.0,205950,C4274077,,,,Autosomal recessive sideroblastic anemia,"Infancy, Neonatal",Autosomal recessive
2725,Eye defects-arachnodactyly-cardiopathy syndrome,Malformation syndrome,Disorder,,,,609465,,,,10054,,,
2755,Orofaciodigital syndrome type 8,Malformation syndrome,Disorder,LD25.00,0010336,Q87.0,300484,C0796101,C557820,,4060,Orofaciodigital syndrome type 8,"Infancy, Neonatal",X-linked recessive
2754,Orofaciodigital syndrome type 6,Malformation syndrome,Disorder,LD25.00,0010176,Q04.3,617127,C2745997,C536531,,4412,Orofaciodigital syndrome type 6,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
252164,Benign schwannoma,Disease,Disorder,2F3Y,,D36.1,,C0027809,D009442,10029235,4767,Benign schwannoma,"Adult, Elderly",Not applicable
2753,Orofaciodigital syndrome type 4,Malformation syndrome,Disorder,LD25.00,0009794,Q87.0,258860,C0406727,C537133,,816,Orofaciodigital syndrome type 4,"Antenatal, Infancy, Neonatal",Autosomal recessive
2752,Orofaciodigital syndrome type 3,Malformation syndrome,Disorder,,0009793,,258850,C0406726,C557817,,10518,,,
2751,Orofaciodigital syndrome type 2,Malformation syndrome,Disorder,LD25.00,0009642,Q87.0,252100,C0026363,C538585,10078419,3701,Orofaciodigital syndrome type 2,"Antenatal, Infancy, Neonatal",Autosomal recessive
252128,Malignant peripheral nerve sheath tumor with perineurial differentiation,Histopathological subtype,Subtype of disorder,2C41,0016751,C47.9,,C1266188,,,,,,
2750,Orofaciodigital syndrome type 1,Malformation syndrome,Disorder,LD25.00,0010702,Q87.0,311200,C1510460,C537134,,4121,Orofaciodigital syndrome type 1,"Antenatal, Infancy, Neonatal","Not applicable, X-linked dominant"
252131,Benign peripheral nerve sheath tumor,Category,Group of disorders,,0016752,,,C5577926,,10087084,,,,
252057,Tumor of cranial and spinal nerves,Category,Group of disorders,,0016749,,,C5679636,,,12697,,,
252050,Primary melanoma of the central nervous system,Disease,Disorder,2A0Z,0016747,C70.9,,C0349626,,,12016,Primary melanoma of the central nervous system,Adult,
2743,Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,Malformation syndrome,Disorder,,0008130,H51.2,165150,C5190740,,,3236,Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,Neonatal,
2742,OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome,Disease,Disorder,,,,,,,,,,,
252054,Hemangioblastoma,Disease,Disorder,,0016748,D33.7,,C0206734,D018325,10018813,8232,Hemangioblastoma,Adult,
2741,Ophthalmomandibulomelic dysplasia,Malformation syndrome,Disorder,9A70.Y,0008127,Q87.8,164900,C1833872,C563501,,4365,Ophthalmomandibulomelic dysplasia,No data available,
252031,Diffuse leptomeningeal melanocytosis,Disease,Disorder,,0016745,C70.9,,C4749348,,,,,,
252046,Meningeal melanocytoma,Disease,Disorder,,0016746,D32.9,,C1266113,,,,,,
252025,Tumor of meninges,Category,Group of disorders,,0016743,,,C0025284,D008577,10061282,,,,
2739,Onycho-tricho-dysplasia-neutropenia syndrome,Disease,Disorder,,,,258360,C1850316,,,,,,
252028,Primary melanocytic tumor of central nervous system,Category,Group of disorders,,,,,C5679637,,,,,,
252018,Teratoma of the central nervous system,Clinical subtype,Subtype of disorder,,0002718,D48.7,,C1332895,,,,,,
661,Congenital central hypoventilation syndrome,Disease,Disorder,7A42.1,,G47.3,619483,C1275808,C536209,10066131,8535,Congenital central hypoventilation syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2736,Lethal omphalocele-cleft palate syndrome,Malformation syndrome,Disorder,,0009780,Q87.8,258320,C1850317,C537747,,4079,Lethal omphalocele-cleft palate syndrome,"Antenatal, Neonatal",Autosomal recessive
252021,Mixed germ cell tumor of central nervous system,Clinical subtype,Subtype of disorder,2A00.1Y,0016742,C72.9,,C1334785,,,,,,
254367,Rare lichen planus,Category,Group of disorders,,,,,C5679638,,,12344,Rare lichen planus,All ages,
2776,Autosomal recessive distal osteolysis syndrome,Malformation syndrome,Disorder,FB86.2,0009810,M89.5,259610,C1850143,C536052,,,Autosomal recessive distal osteolysis syndrome,Childhood,Autosomal recessive
2777,Osteomesopyknosis,Malformation syndrome,Disorder,LD24.10,0008155,Q78.2,166450,C0432264,C537792,,391,Osteomesopyknosis,"Adolescent, Adult, Childhood",Autosomal dominant
254361,Plectin-related limb-girdle muscular dystrophy R17,Disease,Disorder,,0013390,G71.0,613723,C3150989,,,,Plectin-related limb-girdle muscular dystrophy R17,Childhood,Autosomal recessive
2774,Multicentric carpo-tarsal osteolysis with or without nephropathy,Malformation syndrome,Disorder,FB86.2,0008152,M89.5,166300,C2674705,C567171,,,Multicentric carpo-tarsal osteolysis with or without nephropathy,Childhood,Autosomal dominant
254351,Distal 7q11.23 microdeletion syndrome,Malformation syndrome,Disorder,LD44.70,0013393,Q93.5,613729,C4749584,,,,Distal 7q11.23 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2775,Autosomal recessive carpotarsal osteolysis,Disease,Disorder,,,,,,,,,,,
2769,"Familial osteodysplasia, Anderson type",Malformation syndrome,Disorder,LD25.3,0009801,Q87.5,259250,C1850186,C564923,,4136,"Familial osteodysplasia, Anderson type",Neonatal,
254346,19p13.12 microdeletion syndrome,Malformation syndrome,Disorder,LD44.K1,0016765,Q93.5,,C4304579,,,10991,19p13.12 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2770,Nasu-Hakola disease,Malformation syndrome,Disorder,8A44.3,0009092,G31.8,221770,C1857316,C536329,,9921,Nasu-Hakola disease,"Adolescent, Adult",Autosomal recessive
254343,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,Disease,Disorder,,0013354,E88.8,613672,C3150925,,,10992,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,Childhood,Autosomal recessive
2767,Carpotarsal osteochondromatosis,Malformation syndrome,Disorder,LD24.2Y,0007490,D16.9,127820,C1851956,C565076,,1128,Carpotarsal osteochondromatosis,Adult,Autosomal dominant
254334,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,Disease,Disorder,8C20.2,0013338,G60.0,613641,C4750786,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,"Infancy, Neonatal",Autosomal recessive
2768,Blount disease,Malformation syndrome,Disorder,FB82.1,0017194,M92.5,259200,C0220757,C536237,10072255,916,Blount disease,"Childhood, Infancy",Autosomal recessive
2765,OBSOLETE: Hypertrichotic osteochondrodysplasia,Malformation syndrome,Disorder,,,,,,,,,,,
2762,Progressive osseous heteroplasia,Malformation syndrome,Disorder,FB31.0,0008153,M61.5,166350,C0334041,C562735,10048902,109,Progressive osseous heteroplasia,"Childhood, Infancy",Autosomal dominant
252212,Malignant triton tumor,Histopathological subtype,Subtype of disorder,XH2VV8,0016757,C47.9,,C0334616,,,,Malignant triton tumor,All ages,
2763,Osteocraniostenosis,Malformation syndrome,Disorder,LD24.D,0011215,Q78.0,602361,C1865639,C537291,,3396,Osteocraniostenosis,"Antenatal, Neonatal",Autosomal dominant
252206,Melanoma and neural system tumor syndrome,Disease,Disorder,,0007967,D43,155755,C1835042,C536149,,8468,Melanoma and neural system tumor syndrome,"Adult, Elderly","Autosomal dominant, Unknown"
252202,Constitutional mismatch repair deficiency syndrome,Disease,Disorder,,,D80.8,619097,C4321324,,,,Constitutional mismatch repair deficiency syndrome,Childhood,Autosomal recessive
2759,Imperforate oropharynx-costovertebral anomalies syndrome,Malformation syndrome,Disorder,,0017162,Q87.5,,C4749770,,,2989,Imperforate oropharynx-costovertebral anomalies syndrome,Neonatal,
2760,OSLAM syndrome,Malformation syndrome,Disorder,,0008139,C41.9,165660,C1833792,C537138,,4129,OSLAM syndrome,Neonatal,Autosomal dominant
252190,Inherited nervous system cancer-predisposing syndrome,Category,Group of disorders,,,,,C5680719,,,,,,
252183,Neurofibroma,Disease,Disorder,2F3Y,0016755,D36.1,,C0027830,D009455,10029267,7191,Neurofibroma,Adult,
252175,Vestibular schwannoma,Clinical subtype,Subtype of disorder,2A02.3,0001569,D33.3,,C0027859,D009464,10000523,223,,,
254516,Temple syndrome,Malformation syndrome,Disorder,,14541,Q87.8,616222,C4015558,C000726750,,13431,Temple syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
2793,Otoonychoperoneal syndrome,Malformation syndrome,Disorder,LD27.4,0009822,Q87.5,259780,C1850105,C564912,,4170,Otoonychoperoneal syndrome,"Antenatal, Neonatal",Autosomal recessive
2792,Otofaciocervical syndrome,Malformation syndrome,Disorder,,0008163,Q87.0,615560,C1833691,C563481,,4169,Otofaciocervical syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
254519,Kagami-Ogata syndrome,Malformation syndrome,Disorder,,16779,Q87.8,608149,C5779872,,,,Kagami-Ogata syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
254525,Temple syndrome due to paternal 14q32.2 microdeletion,Etiological subtype,Subtype of disorder,LD44.E,0016780,Q93.5,616222,C5679639,,,,Temple syndrome due to paternal 14q32.2 microdeletion,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2798,Pachygyria-intellectual disability-epilepsy syndrome,Malformation syndrome,Disorder,,0010840,G40.4,600176,C1838491,C538091,,409,Pachygyria-intellectual disability-epilepsy syndrome,Childhood,
2796,Pachydermoperiostosis,Malformation syndrome,Disorder,FB86.10,,M89.4,614441,,,10051686,7299,Pachydermoperiostosis,Childhood,"Autosomal dominant, Autosomal recessive"
254528,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,Etiological subtype,Subtype of disorder,LD44.E,0016781,Q93.5,608149,C5679640,,,,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,"Infancy, Neonatal","Autosomal dominant, Not applicable"
254478,Lichen planus pemphigoides,Disease,Disorder,EB41.Y,0016775,L43.8,,C0406369,,10087934,12677,Lichen planus pemphigoides,All ages,
2789,Lateral meningocele syndrome,Malformation syndrome,Disorder,LA07.Y,0007537,Q87.5,130720,C1851710,C537878,,9873,Lateral meningocele syndrome,"Infancy, Neonatal",Autosomal dominant
2788,Osteoporosis-pseudoglioma syndrome,Disease,Disorder,LD24.KY,0009820,Q87.5,259770,C0432252,C536063,10052452,4160,Osteoporosis-pseudoglioma syndrome,Childhood,Autosomal recessive
254492,Frontal fibrosing alopecia,Disease,Disorder,EA91.2,0016776,L66.1,,C4255374,,,10886,Frontal fibrosing alopecia,Adult,
2791,Otodental syndrome,Malformation syndrome,Disorder,LA30.4,0008161,K00.2,166750,C1833693,C563482,,4168,Otodental syndrome,Childhood,Autosomal dominant
254504,Inhalational botulism,Clinical subtype,Subtype of disorder,1A11.1,0016777,A05.1,,C1443900,,,,Inhalational botulism,Adult,
2790,"Endosteal hyperostosis, Worth type",Malformation syndrome,Disorder,LD24.1Y,0007764,Q78.2,144750,C0432273,C536748,,390,"Endosteal hyperostosis, Worth type",Adolescent,Autosomal dominant
254509,Iatrogenic botulism,Clinical subtype,Subtype of disorder,1A11.1,0016778,A05.1,,C4288922,,,,Iatrogenic botulism,All ages,
1306,NON RARE IN EUROPE: Buschke-Ollendorff syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
254411,Annular atrophic lichen planus,Disease,Disorder,,0016771,L43.8,,C4304037,,,12676,Annular atrophic lichen planus,Adult,
254424,Annular lichen planus,Disease,Disorder,EA91.Y,0016772,L43.8,,C0406363,,,12674,Annular lichen planus,All ages,
2783,Autosomal dominant osteopetrosis type 1,Malformation syndrome,Disorder,LD24.10,0011877,Q78.2,607634,C1843330,C536056,,4151,Autosomal dominant osteopetrosis type 1,"Adolescent, Childhood",Autosomal dominant
2787,OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
254449,Atrophic lichen planus,Disease,Disorder,EA91.Y,0016773,L43.8,,C0023647,,10056959,12675,Atrophic lichen planus,All ages,
2786,Osteoporosis-oculocutaneous hypopigmentation syndrome,Malformation syndrome,Disorder,LD24.KY,0011020,Q87.5,601220,C1832592,C536062,,404,Osteoporosis-oculocutaneous hypopigmentation syndrome,"Infancy, Neonatal",Autosomal recessive
254463,Lichen planus pigmentosus,Disease,Disorder,EA91.Y,0016774,L43.8,,C0406366,,,10816,Lichen planus pigmentosus,Adult,
254370,Rare cutaneous lichen planus,Category,Group of disorders,,,,,C5679641,,,,,,
2780,Osteopathia striata-cranial sclerosis syndrome,Malformation syndrome,Disorder,LD24.1Y,0010310,Q78.8,300373,C0432268,C536053,,4148,Osteopathia striata-cranial sclerosis syndrome,"Antenatal, Infancy, Neonatal",X-linked dominant
254373,Rare mucosal lichen planus,Category,Group of disorders,,,,,C5679642,,,,,,
2779,Osteopathia striata-pigmentary dermopathy-white forelock syndrome,Malformation syndrome,Disorder,LD2F.1Y,0017197,Q77.8,,C2931096,C536054,,5562,Osteopathia striata-pigmentary dermopathy-white forelock syndrome,Neonatal,"Autosomal dominant, X-linked dominant"
254379,Linear lichen planus,Disease,Disorder,EA91.Y,0016769,L43.8,,C0023650,,,11898,Linear lichen planus,All ages,
254395,Actinic lichen planus,Disease,Disorder,EA91.Y,0016770,L43.8,,C0406365,,,12673,Actinic lichen planus,All ages,
667,Autosomal recessive malignant osteopetrosis,Malformation syndrome,Disorder,LD24.10,0019026,Q78.2,615085,C1318518,,,,Autosomal recessive malignant osteopetrosis,"Infancy, Neonatal",Autosomal recessive
2815,Spastic paraparesis-deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0010732,G11.4,312910,C2931291,C536692,,5555,Spastic paraparesis-deafness syndrome,Childhood,
254767,Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA,Category,Group of disorders,,,,,C5679643,,,,,,
2823,OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
254758,Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies,Category,Group of disorders,,,,,C5679644,,,,,,
2816,Spastic paraplegia-epilepsy-intellectual disability syndrome,Disease,Disorder,,,,182610,,,,4915,,,
254788,Mitochondrial DNA-related mitochondrial myopathy,Clinical group,Group of disorders,,,,,C5569013,,,,Mitochondrial DNA-related mitochondrial myopathy,,Mitochondrial inheritance
2818,Spastic paraplegia-glaucoma-intellectual disability syndrome,Disease,Disorder,,0010049,G11.4,270850,C4518786,,,4931,Spastic paraplegia-glaucoma-intellectual disability syndrome,Adult,Autosomal recessive
254776,Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA,Category,Group of disorders,,,,,C5679645,,,,,,
254723,Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome,Disease,Disorder,,,,,,,,,,,
2808,Laryngeal abductor paralysis,Malformation syndrome,Disorder,LA71.Y,0007876,J38.0,150260,C0396059,C536354,,5509,Laryngeal abductor paralysis,Neonatal,
2809,Familial recurrent peripheral facial palsy,Disease,Disorder,8B88.0,0007592,G51.0,134200,C1851399,C565028,,,Familial recurrent peripheral facial palsy,"Adolescent, Adult, Childhood",
254712,Familial sinus histiocytosis with massive lymphadenopathy,Disease,Disorder,,,,,,,,,,,
254749,Tricarboxylic acid cycle disorder,Category,Group of disorders,,0016790,,,C5679646,,,,,,
2812,Parana hard skin syndrome,Disease,Disorder,,0009838,L91.8,260530,C1850079,C564905,,2598,Parana hard skin syndrome,Infancy,
254746,Pyruvate metabolism disorder,Category,Group of disorders,,0016789,,,C0268192,,,,,,
2805,Partial pancreatic agenesis,Morphological anomaly,Disorder,LB21.4,,Q45.0,615935,C4305001,,,4203,Partial pancreatic agenesis,"Infancy, Neonatal",Autosomal recessive
254698,Epithelioid trophoblastic tumor,Disease,Disorder,2C75.0,0016787,C58,,C1266159,,,,Epithelioid trophoblastic tumor,Adult,Not applicable
254693,Partial hydatidiform mole,Clinical subtype,Subtype of disorder,JA02.1,0016786,O01.1,,C0334529,,,,Partial hydatidiform mole,Adult,Not applicable
675,Annular pancreas,Morphological anomaly,Disorder,LB21.0,0008183,Q45.1,167750,C0149955,C536376,10071757,705,Annular pancreas,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2807,Papilloma of choroid plexus,Disease,Disorder,2A00.22,0009837,D33.0,260500,C0205770,D020288,10008777,4214,Papilloma of choroid plexus,All ages,Autosomal dominant
254707,Faisalabad histiocytosis,Disease,Disorder,,,,,,,,,,,
678,Papillon-Lefèvre syndrome,Disease,Disorder,EC20.30,0009490,Q82.8,245000,C0030360,D010214,10082856,3100,Papillon-Lefèvre syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
254704,Genetic hyperferritinemia without iron overload,Biological anomaly,Disorder,,0016788,R77.8,,C4707880,,,,Genetic hyperferritinemia without iron overload,No data available,"Autosomal dominant, Autosomal recessive"
254534,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,Etiological subtype,Subtype of disorder,LD2Y,0016783,Q99.8,608149,C5680720,,,,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2802,X-linked sideroblastic anemia and spinocerebellar ataxia,Disease,Disorder,3A72.01,0010524,D64.0,301310,C1845028,C536358,,668,X-linked sideroblastic anemia and spinocerebellar ataxia,"Childhood, Infancy",X-linked recessive
254531,Temple syndrome due to paternal 14q32.2 hypomethylation,Etiological subtype,Subtype of disorder,LD2Y,0016782,Q87.8,616222,C5680721,,,,Temple syndrome due to paternal 14q32.2 hypomethylation,"Infancy, Neonatal","Autosomal dominant, Not applicable"
254688,Complete hydatidiform mole,Clinical subtype,Subtype of disorder,JA02.0,0016785,O01.0,618432,C0678213,,,,Complete hydatidiform mole,Adult,"Autosomal recessive, Not applicable"
2804,W syndrome,Malformation syndrome,Disorder,,0010708,Q87.8,311450,C0796110,C538106,10084236,358,W syndrome,"Infancy, Neonatal",X-linked recessive
254685,Gestational trophoblastic disease,Category,Group of disorders,,,,,C2931618,D031901,,,,,
261718,OBSOLETE: Anomaly of chromosome 8,Category,Group of disorders,,,,,,,,,,,
619,NON RARE IN EUROPE: Primary ovarian failure,Disease,Disorder,,,E28.3,,,,10036601,,,,
261715,OBSOLETE: Anomaly of chromosome 7,Category,Group of disorders,,,,,,,,,,,
2491,Müllerian duct anomalies-limb anomalies syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007795,Q87.8,146160,C4274837,,,2908,Müllerian duct anomalies-limb anomalies syndrome,Neonatal,
261712,OBSOLETE: Anomaly of chromosome 6,Category,Group of disorders,,,,,,,,,,,
261709,OBSOLETE: Anomaly of chromosome 5,Category,Group of disorders,,,,,,,,,,,
2492,FATCO syndrome,Malformation syndrome,Disorder,,,Q87.2,246570,C1855499,C565436,,2622,FATCO syndrome,"Antenatal, Neonatal",
2498,Syndactyly type 8,Morphological anomaly,Disorder,LB79.Y,0010669,Q70.0,309630,C1839728,C564100,,3559,Syndactyly type 8,,"Autosomal dominant, X-linked recessive"
261730,OBSOLETE: Anomaly of chromosome 11,Category,Group of disorders,,,,,,,,,,,
2499,Metachondromatosis,Malformation syndrome,Disorder,LD24.2Y,0007979,Q78.4,156250,C0410530,C562938,,3560,Metachondromatosis,Childhood,Autosomal dominant
261724,OBSOLETE: Anomaly of chromosome 10,Category,Group of disorders,,,,,,,,,,,
2496,Mesomelia-synostoses syndrome,Malformation syndrome,Disorder,LD24.9,0010881,Q74.8,600383,C1838162,C537348,,4302,Mesomelia-synostoses syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
2497,"Upper limb mesomelic dysplasia, type Fryns",Malformation syndrome,Disorder,LD24.A,0008620,Q78.8,191440,C5574958,C538069,,2408,"Upper limb mesomelic dysplasia, type Fryns",Neonatal,
261721,OBSOLETE: Anomaly of chromosome 9,Category,Group of disorders,,,,,,,,,,,
261742,OBSOLETE: Anomaly of chromosome 15,Category,Group of disorders,,,,,,,,,,,
2502,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0009599,Q78.5,250420,C4518775,,,3566,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,"Infancy, Neonatal",Autosomal recessive
261739,OBSOLETE: Anomaly of chromosome 14,Category,Group of disorders,,,,,,,,,,,
261736,OBSOLETE: Anomaly of chromosome 13,Category,Group of disorders,,,,,,,,,,,
2500,Acrogeria,Malformation syndrome,Disorder,LD2B,0008716,L90.8,201200,C0238590,C538187,,6543,Acrogeria,"Childhood, Infancy",Unknown
261733,OBSOLETE: Anomaly of chromosome 12,Category,Group of disorders,,,,,,,,,,,
2501,"Metaphyseal chondrodysplasia, Spahr type",Disease,Disorder,LD24.7,0009597,Q78.5,250400,C0432225,C537353,,3563,"Metaphyseal chondrodysplasia, Spahr type",Childhood,Autosomal recessive
261754,OBSOLETE: Anomaly of chromosome 19,Category,Group of disorders,,,,,,,,,,,
2506,Michels syndrome,Malformation syndrome,Disorder,,,,257920,C0796059,,,,,,
2507,OBSOLETE: Mickleson syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
261751,OBSOLETE: Anomaly of chromosome 18,Category,Group of disorders,,,,,,,,,,,
261748,OBSOLETE: Anomaly of chromosome 17,Category,Group of disorders,,,,,,,,,,,
2504,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,Malformation syndrome,Disorder,LD24.7,0007984,Q77.8,156510,C4510380,,,3568,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,"Infancy, Neonatal",Autosomal dominant
2505,Multiple benign circumferential skin creases on limbs,Disease,Disorder,,0007990,Q82.8,616734,C0473586,C537575,,3589,Multiple benign circumferential skin creases on limbs,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
261745,OBSOLETE: Anomaly of chromosome 16,Category,Group of disorders,,,,,,,,,,,
261763,OBSOLETE: Anomaly of chromosome 22,Category,Group of disorders,,,,,,,,,,,
2511,Microbrachycephaly-ptosis-cleft lip syndrome,Malformation syndrome,Disorder,,0010007,Q87.8,268850,C4518461,,,3596,Microbrachycephaly-ptosis-cleft lip syndrome,"Infancy, Neonatal",Autosomal recessive
261766,Partial deletion of chromosome 1 syndrome,Category,Group of disorders,,0016866,,,C5679647,,,,,,
2510,Micro syndrome,Malformation syndrome,Disorder,LD20.1,0016649,Q87.0,615663,C5442005,,,5534,Micro syndrome,Childhood,Autosomal recessive
261757,OBSOLETE: Anomaly of chromosome 20,Category,Group of disorders,,,,,,,,,,,
2508,Corpus callosum agenesis-abnormal genitalia syndrome,Malformation syndrome,Disorder,,0010224,Q87.8,300004,C0796124,C563110,,4528,Corpus callosum agenesis-abnormal genitalia syndrome,"Infancy, Neonatal",X-linked recessive
261760,OBSOLETE: Anomaly of chromosome 21,Category,Group of disorders,,,,,,,,,,,
261781,Partial deletion of chromosome 4 syndrome,Category,Group of disorders,,0016869,,,C5679648,,,,,,
2516,Microcephaly-cardiac defect-lung malsegmentation syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011050,Q87.8,601355,C2931129,C536205,,2098,Microcephaly-cardiac defect-lung malsegmentation syndrome,"Infancy, Neonatal",Autosomal recessive
261786,Partial deletion of chromosome 5 syndrome,Category,Group of disorders,,0016870,,,C5679649,,,,,,
2515,Microcephaly-cardiomyopathy syndrome,Malformation syndrome,Disorder,LD2F.1,0009618,Q87.8,251220,C1855080,C536711,,3609,Microcephaly-cardiomyopathy syndrome,"Infancy, Neonatal",Autosomal recessive
261771,Partial deletion of chromosome 2 syndrome,Category,Group of disorders,,0016867,,,C5679650,,,,,,
2514,Autosomal dominant primary microcephaly,Etiological subtype,Subtype of disorder,LA05.0,0007988,Q02,616311,C4755316,C537323,,3605,Autosomal dominant primary microcephaly,"Antenatal, Infancy, Neonatal",Autosomal dominant
261776,Partial deletion of chromosome 3 syndrome,Category,Group of disorders,,0016868,,,C5679651,,,,,,
2513,Microcephaly-albinism-digital anomalies syndrome,Malformation syndrome,Disorder,,0008750,Q87.8,203340,C1859910,C537322,,3604,Microcephaly-albinism-digital anomalies syndrome,"Infancy, Neonatal",Unknown
261801,Partial deletion of chromosome 8 syndrome,Category,Group of disorders,,0016873,,,C5679652,,,,,,
2521,Microcephaly-cleft palate-abnormal retinal pigmentation syndrome,Malformation syndrome,Disorder,,0016750,Q87.8,,C2930954,,,8623,Microcephaly-cleft palate-abnormal retinal pigmentation syndrome,"Infancy, Neonatal",Unknown
261806,Partial deletion of chromosome 9 syndrome,Category,Group of disorders,,0016874,,,C5679653,,,,,,
261791,Partial deletion of chromosome 6 syndrome,Category,Group of disorders,,0016871,,,C5679654,,,,,,
2518,Autosomal recessive chorioretinopathy-microcephaly syndrome,Malformation syndrome,Disorder,9B61,,Q87.8,251270,C4749272,,,,Autosomal recessive chorioretinopathy-microcephaly syndrome,Neonatal,Autosomal recessive
261796,Partial deletion of chromosome 7 syndrome,Category,Group of disorders,,0016872,,,C5679655,,,,,,
261821,Partial deletion of the long arm of chromosome 12 syndrome,Category,Group of disorders,LD44.C0,0016877,,,C5679656,,,,,,
2524,Pontocerebellar hypoplasia type 2,Malformation syndrome,Disorder,LD20.01,0016759,Q04.3,617026,C2932714,C548070,,10705,Pontocerebellar hypoplasia type 2,"Infancy, Neonatal",Autosomal recessive
261826,Partial deletion of chromosome 16 syndrome,Category,Group of disorders,,0016878,,,C5679657,,,,,,
261811,Partial deletion of chromosome 10 syndrome,Category,Group of disorders,,0016875,,,C5679658,,,,,,
2523,Microcephaly-brain defect-spasticity-hypernatremia syndrome,Malformation syndrome,Disorder,LD20.2,0016758,G98,,C4749368,,,3607,Microcephaly-brain defect-spasticity-hypernatremia syndrome,Neonatal,
261816,Partial deletion of chromosome 11 syndrome,Category,Group of disorders,,0016876,,,C5679659,,,,,,
2522,Microcephaly-cervical spine fusion anomalies syndrome,Malformation syndrome,Disorder,LD20.2,0009621,Q87.8,251250,C0796066,C537325,,3610,Microcephaly-cervical spine fusion anomalies syndrome,"Antenatal, Neonatal",Autosomal recessive
261836,Partial deletion of chromosome 18 syndrome,Category,Group of disorders,,0016880,,,C5679660,,,,,,
2526,Microcephaly-lymphedema-chorioretinopathy syndrome,Malformation syndrome,Disorder,BD93.0,0007918,Q87.8,152950,C1835265,C537711,,3622,Microcephaly-lymphedema-chorioretinopathy syndrome,Neonatal,Autosomal dominant
261831,Partial deletion of chromosome 17 syndrome,Category,Group of disorders,,0016879,,,C5679661,,,,,,
261846,Partial deletion of chromosome 20 syndrome,Category,Group of disorders,,0016882,,,C5679662,,,,,,
2528,"Microcephaly-microcornea syndrome, Seemanova type",Malformation syndrome,Disorder,LD20.2,0016760,Q87.8,,C2931524,C537536,,3627,"Microcephaly-microcornea syndrome, Seemanova type","Infancy, Neonatal",
261841,Partial deletion of chromosome 19 syndrome,Category,Group of disorders,,0016881,,,C5679663,,,,,,
261866,Partial deletion of the short arm of chromosome 2 syndrome,Category,Group of disorders,LD44.21,0016884,,,C5679664,,,,,,
261857,Partial deletion of the short arm of chromosome 1 syndrome,Category,Group of disorders,LD44.11,0016883,,,C0795796,C535591,,,,,
261884,Partial deletion of the short arm of chromosome 4 syndrome,Category,Group of disorders,LD44.41,0022762,,,C5679665,,,,,,
2533,Microcephaly-deafness-intellectual disability syndrome,Malformation syndrome,Disorder,LD2H.Y,0007991,Q87.8,156620,C0796062,C537326,,230,Microcephaly-deafness-intellectual disability syndrome,"Infancy, Neonatal",
261875,Partial deletion of the short arm of chromosome 3 syndrome,Category,Group of disorders,LD44.31,0016885,,,C5679666,,,37,,,
2535,OBSOLETE: Microcornea-corectopia-macular hypoplasia syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
261902,Partial deletion of the short arm of chromosome 6 syndrome,Category,Group of disorders,LD44.61,0016888,,,C5679667,,,,,,
2536,Microcornea-glaucoma-absent frontal sinuses syndrome,Malformation syndrome,Disorder,,0007992,Q15.8,156700,C4274800,C537552,,3637,Microcornea-glaucoma-absent frontal sinuses syndrome,"Childhood, Infancy, Neonatal",
261893,Partial deletion of the short arm of chromosome 5 syndrome,Category,Group of disorders,LD44.51,0016887,,,C5547451,,,,,,
261920,Partial deletion of the short arm of chromosome 8 syndrome,Category,Group of disorders,LD44.81,0016890,,,C2931635,C537826,,,,,
261911,Partial deletion of the short arm of chromosome 7 syndrome,Category,Group of disorders,LD44.71,0016889,,,C5679668,,,,Partial deletion of the short arm of chromosome 7 syndrome,Antenatal,
261938,Partial deletion of the short arm of chromosome 10 syndrome,Category,Group of disorders,LD44.A1,0016892,,,C0795836,C538288,,,,,
261929,Partial deletion of the short arm of chromosome 9 syndrome,Category,Group of disorders,LD44.91,,,,C5679669,,,,,,
261956,Partial deletion of the short arm of chromosome 16 syndrome,Category,Group of disorders,LD44.G1,0016894,,,C5679670,,,,,,
2543,OBSOLETE: Microphthalmia-cataract syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
261947,Partial deletion of the short arm of chromosome 11 syndrome,Category,Group of disorders,LD44.B1,0016893,,,C2931801,C538295,,,,,
261965,Partial deletion of the short arm of chromosome 17 syndrome,Category,Group of disorders,LD44.H1,0022754,,,C5679671,,,,,,
2549,Oculoauriculovertebral spectrum with radial defects,Malformation syndrome,Disorder,LD2F.16,0007712,Q75.8,141400,C0220681,,,3653,Oculoauriculovertebral spectrum with radial defects,"Antenatal, Neonatal",
261974,Partial deletion of the short arm of chromosome 18 syndrome,Category,Group of disorders,LD44.J1,,,,C5848132,,,,,,
261983,Partial deletion of the short arm of chromosome 19 syndrome,Category,Group of disorders,LD44.K1,0016897,,,C5679672,,,,,,
2551,Microspherophakia-metaphyseal dysplasia syndrome,Malformation syndrome,Disorder,,0007998,Q87.5,157151,C4510377,,,5481,Microspherophakia-metaphyseal dysplasia syndrome,"Infancy, Neonatal",Autosomal dominant
261992,Partial deletion of the short arm of chromosome 20 syndrome,Category,Group of disorders,LD44.L1,0016898,,,C5679673,,,,,,
262001,Partial deletion of the long arm of chromosome 1 syndrome,Category,Group of disorders,LD44.10,0022756,,,C5679674,,,,,,
2554,Ear-patella-short stature syndrome,Malformation syndrome,Disorder,LD24.JY,0016817,Q87.1,617063,C1868684,C538012,10070612,2033,Ear-patella-short stature syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
262010,Partial deletion of the long arm of chromosome 2 syndrome,Category,Group of disorders,LD44.20,0016901,,,C0795804,C538315,,,,,
262019,Partial deletion of the long arm of chromosome 3 syndrome,Category,Group of disorders,LD44.30,0016902,,,C5679675,,,,,,
2556,Microphthalmia with linear skin defects syndrome,Malformation syndrome,Disorder,LD21.0,0010672,Q11.2,309801,C0796070,C537466,,3659,Microphthalmia with linear skin defects syndrome,Neonatal,X-linked dominant
262029,Partial deletion of the long arm of chromosome 4 syndrome,Category,Group of disorders,LD44.40,0016903,,,C0265404,C537639,,,,,
262038,Partial deletion of the long arm of chromosome 5 syndrome,Category,Group of disorders,LD44.50,0016904,,,C0740302,C535323,10068532,,,,
2558,Mikati-Najjar-Sahli syndrome,Malformation syndrome,Disorder,,0016818,E22.8,,C4518578,,,,Mikati-Najjar-Sahli syndrome,"Infancy, Neonatal",Autosomal recessive
262047,Partial deletion of the long arm of chromosome 6 syndrome,Category,Group of disorders,LD44.60,0016905,,,C0795816,C537807,,,,,
2557,Mietens syndrome,Malformation syndrome,Disorder,9A70.Y,0009582,Q87.8,249600,C0265249,C537444,,3524,Mietens syndrome,"Infancy, Neonatal",Autosomal recessive
2561,Pyramidal molars-abnormal upper lip syndrome,Malformation syndrome,Disorder,,0008706,K00.2,200970,C1860167,C538170,,469,Pyramidal molars-abnormal upper lip syndrome,Childhood,Autosomal recessive
262056,Partial deletion of the long arm of chromosome 7 syndrome,Category,Group of disorders,LD44.70,0016906,,,C5679676,,,,,,
262065,Partial deletion of the long arm of chromosome 8 syndrome,Category,Group of disorders,LD44.80,0016907,,,C0795828,C537828,,,,,
2560,Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,Malformation syndrome,Disorder,,0016819,E23.0,,C2931024,,,3698,Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,"Infancy, Neonatal",Not applicable
2564,Tetramelic monodactyly,Malformation syndrome,Disorder,,0008544,Q73.8,187510,C1861233,C566066,,3707,Tetramelic monodactyly,Antenatal,Autosomal dominant
262074,Partial deletion of the long arm of chromosome 9 syndrome,Category,Group of disorders,LD44.90,0016908,,,C5679677,,,,,,
262083,Partial deletion of the long arm of chromosome 10 syndrome,Category,Group of disorders,LD44.A0,0016909,,,C0795839,C538289,,,,,
2563,MOMO syndrome,Malformation syndrome,Disorder,LD2C,0008008,Q87.3,157980,C1834759,C535812,,178,MOMO syndrome,"Infancy, Neonatal",Autosomal recessive
262092,Partial deletion of the long arm of chromosome 11 syndrome,Category,Group of disorders,LD44.B0,0016910,,,C2931804,C538296,,,,,
262101,Partial deletion of the long arm of chromosome 13 syndrome,Category,Group of disorders,,0016911,,,C0265451,C535484,,,,,
2565,Mononen-Karnes-Senac syndrome,Malformation syndrome,Disorder,,0010538,Q87.5,301940,C2931060,C535914,,4886,Mononen-Karnes-Senac syndrome,"Infancy, Neonatal",X-linked dominant
2574,Moynahan syndrome,Malformation syndrome,Disorder,,0008755,,203600,C0265328,C537052,,606,,,
575,Muckle-Wells syndrome,Disease,Disorder,4A60.1,0008633,E85.0,191900,C0268390,,10064569,8472,Muckle-Wells syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
2572,Spastic ataxia-corneal dystrophy syndrome,Disease,Disorder,9A70.Y,0010064,G11.8,271320,C1849085,C536989,,3795,Spastic ataxia-corneal dystrophy syndrome,Childhood,Autosomal recessive
2573,Moyamoya disease,Disease,Disorder,8B22.B,0016820,I67.5,614042,C0026654,D009072,10028047,7064,Moyamoya disease,All ages,"Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive"
2570,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,Malformation syndrome,Disorder,,0010610,Q04.2,306990,C4274798,,,3788,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,Antenatal,X-linked recessive
2571,X-linked immunoneurologic disorder,Disease,Disorder,4A01.0Y,0010243,D82.8,300076,C1848144,C536743,,274,X-linked immunoneurologic disorder,"Infancy, Neonatal",X-linked dominant
2569,Moore-Federman syndrome,Malformation syndrome,Disorder,,,,127200,C0265349,,,,,,
261183,15q11.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.F,0014294,Q93.5,615656,C4749854,,,10525,15q11.2 microdeletion syndrome,"Infancy, Neonatal",Not applicable
2585,Ataxia-pancytopenia syndrome,Malformation syndrome,Disorder,,0008038,D61.0,159550,C1327919,C563233,,3865,Ataxia-pancytopenia syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
261144,FOXG1 syndrome due to 14q12 microdeletion,Clinical subtype,Subtype of disorder,LD44.E,0016833,Q93.5,,C4305240,,,,FOXG1 syndrome due to 14q12 microdeletion,"Infancy, Neonatal",Not applicable
2580,OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
261120,14q11.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.E,0013272,Q93.5,613457,C4304999,,,,14q11.2 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2578,Mayer-Rokitansky-Küster-Hauser syndrome type 2,Clinical subtype,Subtype of disorder,LD2F.14,0010989,Q87.8,601076,C4305568,,,5513,Mayer-Rokitansky-Küster-Hauser syndrome type 2,"Adolescent, Antenatal, Neonatal","Autosomal dominant, Not applicable"
2579,Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,Disease,Disorder,,0008023,G11.1,158500,C2931765,C538193,,2417,Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,Childhood,Autosomal dominant
261112,Monosomy 9p syndrome,Malformation syndrome,Disorder,LD44.91,0008013,Q93.5,158170,C0795830,C538024,,3773,Monosomy 9p syndrome,"Antenatal, Neonatal",
261102,Distal 7q11.23 microduplication syndrome,Malformation syndrome,Disorder,LD41.60,0016832,Q92.3,,C4750782,,,,Distal 7q11.23 microduplication syndrome,"Infancy, Neonatal",
2576,Mulibrey nanism,Malformation syndrome,Disorder,LD2F.1Y,0009664,Q87.1,253250,C0524582,D050336,,95,Mulibrey nanism,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
261236,16p13.11 microdeletion syndrome,Malformation syndrome,Disorder,LD44.G1,0016836,Q93.5,,C4304596,,,,16p13.11 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2608,N syndrome,Malformation syndrome,Disorder,LD2H.Y,0010686,Q87.8,310465,C2936859,C536108,,3902,N syndrome,"Infancy, Neonatal",X-linked recessive
261243,16p13.11 microduplication syndrome,Malformation syndrome,Disorder,LD41.F1,0016837,Q92.3,,C4304595,,,,16p13.11 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
261222,Distal 16p11.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.G1,0013267,Q93.5,613444,C4518824,,,,Distal 16p11.2 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
1359,Carney complex,Disease,Disorder,5A70.Y,0015285,D44.8,605244,C0406810,D056733,10076601,1119,Carney complex,"Infancy, Neonatal",Autosomal dominant
2593,Tubular aggregate myopathy,Disease,Disorder,8C72.Y,0008051,G71.2,615883,C0410207,,,3884,Tubular aggregate myopathy,"Adolescent, Adult, Childhood",Autosomal dominant
261229,14q11.2 microduplication syndrome,Malformation syndrome,Disorder,LD41.D,0016835,Q92.3,,C4749855,,,,14q11.2 microduplication syndrome,"Infancy, Neonatal",
2590,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,Disease,Disorder,,0008045,G25.3,159950,C1834569,C537563,,3875,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,Childhood,Autosomal recessive
261204,16p11.2p12.2 microduplication syndrome,Malformation syndrome,Disorder,,0016834,Q92.3,,C4518821,,,,16p11.2p12.2 microduplication syndrome,"Antenatal, Infancy, Neonatal",
2589,Myoclonus-cerebellar ataxia-deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0008043,G11.1,159800,C4518566,,,3873,Myoclonus-cerebellar ataxia-deafness syndrome,Childhood,Autosomal dominant
261211,16p11.2p12.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.G1,0013320,Q93.5,613604,C4304597,,,,16p11.2p12.2 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2588,Myhre syndrome,Malformation syndrome,Disorder,,0007688,Q87.8,139210,C0796081,C537620,,2572,Myhre syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
261190,Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion,Clinical subtype,Subtype of disorder,LD44.F,0014822,Q93.5,616898,C4305230,,,,Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion,"Infancy, Neonatal","Not applicable, Unknown"
261197,Proximal 16p11.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.G1,0012756,Q93.5,611913,C4273657,,,10740,Proximal 16p11.2 microdeletion syndrome,Childhood,"Autosomal dominant, Not applicable"
2621,OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
261295,20p12.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.L1,0016841,Q93.5,617877,C4304539,,,12492,20p12.3 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
261304,Paternal 20q13.2q13.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.L0,0016842,Q93.5,,C4510306,,,,Paternal 20q13.2q13.3 microdeletion syndrome,"Antenatal, Neonatal",Not applicable
261279,17q23.1q23.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.H0,0013238,Q93.5,613355,C4304591,,,10936,17q23.1q23.2 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
261290,Trisomy 17p syndrome,Malformation syndrome,Disorder,,0016840,Q92.2,,C0795865,C538048,,5318,Trisomy 17p syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2617,"Microcephalic primordial dwarfism, Montreal type",Malformation syndrome,Disorder,,0008870,Q87.1,210700,C1859468,C535448,,895,"Microcephalic primordial dwarfism, Montreal type","Infancy, Neonatal",
261265,17q12 microdeletion syndrome,Malformation syndrome,Disorder,LD44.H0,0013797,Q93.5,614527,C4518822,,,13297,17q12 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
261272,17q12 microduplication syndrome,Malformation syndrome,Disorder,LD41.G0,0013796,Q92.3,614526,C3281137,,,13296,17q12 microduplication syndrome,"Antenatal, Infancy, Neonatal",
2616,3M syndrome,Malformation syndrome,Disorder,LD24.D,0007477,Q87.1,614205,C1848862,C535314,10081775,5667,3M syndrome,Antenatal,Autosomal recessive
261250,16q24.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.G0,0016838,Q93.5,,C4304594,,,10935,16q24.3 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2613,Nail-patella-like renal disease,Disease,Disorder,GB4Y,0009724,N07.8,256020,C0403548,C537228,,321,Nail-patella-like renal disease,"Infancy, Neonatal",Autosomal dominant
261257,Distal 17p13.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.H1,0016839,Q93.5,,C4707092,,,,Distal 17p13.3 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
261344,Trisomy 1q syndrome,Malformation syndrome,Disorder,,0016847,Q92.2,,C4708596,,,,Trisomy 1q syndrome,"Antenatal, Neonatal",
261337,Distal 22q11.2 microduplication syndrome,Malformation syndrome,Disorder,LD41.M,0016846,Q92.3,,C4706942,,,,Distal 22q11.2 microduplication syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
261476,Xp21 deletion syndrome,Disease,Disorder,LD51,0010399,Q99.8,300679,C4505291,,,,Xp21 deletion syndrome,"Infancy, Neonatal",
261349,2p15p16.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.21,0012916,Q93.5,612513,C4304538,,,13391,2p15p16.1 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
261318,Trisomy 20p syndrome,Malformation syndrome,Disorder,LD41.K1,0016844,Q92.2,,C2930888,C535371,,5333,Trisomy 20p syndrome,"Infancy, Neonatal","Not applicable, Unknown"
261311,20q13.33 microdeletion syndrome,Malformation syndrome,Disorder,LD44.L0,0016843,Q93.5,,C4518823,,,,20q13.33 microdeletion syndrome,Neonatal,Not applicable
2623,Geleophysic dysplasia,Malformation syndrome,Disorder,LD24.8Y,0000127,Q87.1,617809,C3489726,,10063361,2449,Geleophysic dysplasia,Childhood,"Autosomal dominant, Autosomal recessive"
261330,Distal 22q11.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.NY,0012740,Q93.5,611867,C4518343,,,,Distal 22q11.2 microdeletion syndrome,"Antenatal, Neonatal",Autosomal dominant
261323,21q22.11q22.12 microdeletion syndrome,Malformation syndrome,Disorder,LD44.M,0016845,Q93.5,619981,C5192593,,,,21q22.11q22.12 microdeletion syndrome,"Infancy, Neonatal",Not applicable
261524,Paternal uniparental disomy of chromosome X syndrome,Malformation syndrome,Disorder,LD45.1,0016852,Q99.8,,C5191049,,,,Paternal uniparental disomy of chromosome X syndrome,Neonatal,
2639,Fibular aplasia-complex brachydactyly syndrome,Malformation syndrome,Disorder,LD26.0,0009231,Q73.8,228900,C1856738,C537931,,9879,Fibular aplasia-complex brachydactyly syndrome,"Antenatal, Neonatal",Autosomal recessive
261519,Maternal uniparental disomy of chromosome X syndrome,Malformation syndrome,Disorder,LD45.0,0016851,Q99.8,,C5191056,,,,Maternal uniparental disomy of chromosome X syndrome,Neonatal,
261534,"49,XXXYY syndrome",Malformation syndrome,Disorder,,0016854,Q98.8,,C4749586,,,10922,"49,XXXYY syndrome",Neonatal,
2640,"Lethal short-limb dwarfism, McAlister-Crane type",Malformation syndrome,Disorder,,,,,,,,,,,
261529,Ring chromosome Y syndrome,Malformation syndrome,Disorder,LD53,0016853,Q98.6,,C4706450,,,,Ring chromosome Y syndrome,Neonatal,
2641,"OBSOLETE: Micromelic dwarfism, Fryns type",Disease,Disorder,,,,,,,,,,,
2631,Mesomelic dwarfism-cleft palate-camptodactyly syndrome,Malformation syndrome,Disorder,LD24.A,0009589,Q78.8,249710,C2930871,C535294,,3552,Mesomelic dwarfism-cleft palate-camptodactyly syndrome,Neonatal,Autosomal recessive
261494,Kleefstra syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012455,Q87.8,610253,C4551771,,10079365,8672,Kleefstra syndrome,Neonatal,Autosomal dominant
261483,Xq27.3q28 duplication syndrome,Malformation syndrome,Disorder,LD51,0010467,Q99.8,300869,C4305103,,,,Xq27.3q28 duplication syndrome,"Infancy, Neonatal",X-linked recessive
2632,Langer mesomelic dysplasia,Malformation syndrome,Disorder,LD24.A,0009588,Q87.1,249700,C0432230,C537267,,3553,Langer mesomelic dysplasia,Antenatal,Autosomal recessive
261512,OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3,Malformation syndrome,Disorder,,,,,,,,,,,
2633,"Mesomelic dysplasia, Nievergelt type",Malformation syndrome,Disorder,LD24.A,0008098,Q78.8,163400,C0432231,C536120,,3554,"Mesomelic dysplasia, Nievergelt type","Antenatal, Neonatal",Autosomal dominant
261501,Atypical Norrie disease due to Xp11.3 microdeletion,Malformation syndrome,Disorder,,0016850,H35.5,,C4518083,,,,Atypical Norrie disease due to Xp11.3 microdeletion,Neonatal,Not applicable
2634,"Mesomelic dwarfism, Reinhardt-Pfeiffer type",Malformation syndrome,Disorder,LD24.A,0008618,Q78.8,191400,C1860616,C537349,,3555,"Mesomelic dwarfism, Reinhardt-Pfeiffer type","Antenatal, Infancy, Neonatal",Autosomal dominant
2646,Parastremmatic dysplasia,Malformation syndrome,Disorder,,0008196,,168400,C1868616,C537172,,4222,,,
261579,OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations,Etiological subtype,Subtype of disorder,,,,,,,,,,,
2645,Osteoglosphonic dysplasia,Malformation syndrome,Disorder,LD24.2Y,0008150,Q87.1,166250,C0432283,C536050,,4142,Osteoglosphonic dysplasia,Neonatal,Autosomal dominant
261584,5q22 microdeletion syndrome,Disease,Disorder,LD44.50,0016860,Q93.5,,C5548205,,,,5q22 microdeletion syndrome,Adult,Not applicable
261600,Alagille syndrome due to 20p12 microdeletion,Etiological subtype,Subtype of disorder,LB20.0Y,0016861,Q44.7,118450,C5679679,,,,Alagille syndrome due to 20p12 microdeletion,,Not applicable
261619,Alagille syndrome due to a JAG1 point mutation,Etiological subtype,Subtype of disorder,LB20.0Y,0016862,Q44.7,118450,C5679680,,,,Alagille syndrome due to a JAG1 point mutation,,Autosomal dominant
261537,Mowat-Wilson syndrome due to monosomy 2q22,Etiological subtype,Subtype of disorder,LD2F.1Y,0016855,Q43.1,235730,C5437617,,,,Mowat-Wilson syndrome due to monosomy 2q22,"Antenatal, Neonatal",
2643,"Microcephalic primordial dwarfism, Toriello type",Malformation syndrome,Disorder,LD24.D,0009616,Q87.1,251190,C1855089,C537321,,3602,"Microcephalic primordial dwarfism, Toriello type","Antenatal, Neonatal",
261552,Mowat-Wilson syndrome due to a ZEB2 point mutation,Etiological subtype,Subtype of disorder,LD2F.1Y,0016856,Q43.1,235730,C5679681,,,,Mowat-Wilson syndrome due to a ZEB2 point mutation,"Antenatal, Neonatal",Autosomal dominant
261559,OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome,Etiological subtype,Subtype of disorder,,,,,,,,,,,
261572,OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome,Etiological subtype,Subtype of disorder,,,,,,,,,,,
2636,Microcephalic osteodysplastic primordial dwarfism types I and III,Malformation syndrome,Disorder,LD20.2,0016994,Q87.1,210710,C4319565,,,5120,Microcephalic osteodysplastic primordial dwarfism types I and III,"Antenatal, Infancy, Neonatal",Autosomal recessive
261697,OBSOLETE: Anomaly of chromosome 1,Category,Group of disorders,,,,,,,,,,,
2658,Lenz-Majewski hyperostotic dysplasia,Malformation syndrome,Disorder,LD24.1Y,0007892,Q87.1,151050,C0432269,C537115,,3223,Lenz-Majewski hyperostotic dysplasia,"Antenatal, Infancy, Neonatal",Autosomal dominant
261700,OBSOLETE: Anomaly of chromosome 2,Category,Group of disorders,,,,,,,,,,,
261703,OBSOLETE: Anomaly of chromosome 3,Category,Group of disorders,,,,,,,,,,,
261706,OBSOLETE: Anomaly of chromosome 4,Category,Group of disorders,,,,,,,,,,,
261629,Alagille syndrome due to a NOTCH2 point mutation,Etiological subtype,Subtype of disorder,LB20.0Y,0012439,Q44.7,610205,C1857761,,,,Alagille syndrome due to a NOTCH2 point mutation,,Autosomal dominant
261638,Okihiro syndrome due to 20q13 microdeletion,Etiological subtype,Subtype of disorder,LD44.L0,0016863,Q87.8,607323,C5679682,,,,Okihiro syndrome due to 20q13 microdeletion,,Not applicable
2650,OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
261647,Okihiro syndrome due to a point mutation,Etiological subtype,Subtype of disorder,LD2F.1Y,0016864,Q87.8,607323,C5679683,,,,Okihiro syndrome due to a point mutation,,Autosomal dominant
2654,Syndesmodysplasic dwarfism,Disease,Disorder,,,,272450,C2931647,,,,,,
261652,Kleefstra syndrome due to a point mutation,Etiological subtype,Subtype of disorder,LD2F.1Y,0016865,Q87.8,610253,C5680724,,,,Kleefstra syndrome due to a point mutation,Neonatal,Autosomal dominant
3061,"OBSOLETE: X-linked intellectual disability, Raynaud type",Disease,Disorder,,,,,,,,,,,
264200,14q22q23 microdeletion syndrome,Malformation syndrome,Disorder,LD44.E,0012324,Q93.5,609640,C1864825,,,2384,14q22q23 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
263798,OBSOLETE: Y chromosomal anomaly,Category,Group of disorders,,,,,,,,,,,
3062,"OBSOLETE: X-linked intellectual disability, Schutz type",Disease,Disorder,,,,,,,,,,,
3059,"X-linked intellectual disability, Gu type",Disease,Disorder,,,,,,,,,,,
263793,Uniparental disomy of chromosome X syndrome,Category,Group of disorders,,,,,C5679684,,,,,,
263783,Partial duplication of the long arm of chromosome X syndrome,Category,Group of disorders,,0017010,,,C5679685,,,,,,
3056,"X-linked intellectual disability, Brooks type",Malformation syndrome,Disorder,,,,,,,,,,,
263775,Partial duplication of the short arm of chromosome X syndrome,Category,Group of disorders,,0017009,,,C5679686,,,12421,,,
263768,Partial duplication of chromosome X syndrome,Category,Group of disorders,,0017008,,,C5679687,,,,,,
3057,Monoamine oxidase A deficiency,Disease,Disorder,5C59.0Y,0010379,E70.8,300615,C0796275,C563156,10081371,3531,Monoamine oxidase A deficiency,Childhood,X-linked recessive
775,"OBSOLETE: X-linked intellectual disability, Martinez type",Malformation syndrome,Disorder,,,,,,,,,,,
3055,X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,Malformation syndrome,Disorder,,0017614,Q87.8,,C0796264,C536715,,345,X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,"Infancy, Neonatal",X-linked recessive
263756,Partial deletion of the long arm of chromosome X syndrome,Category,Group of disorders,,0017007,,,C5679688,,,,,,
263749,X and Y chromosomal anomaly syndrome,Category,Group of disorders,,,,,C5680725,,,,,,
263746,Y chromosome number anomaly syndrome,Category,Group of disorders,LD52,,,,C4736189,,,,,,
3050,OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome,Disease,Disorder,,,,,,,,,,,
3052,X-linked intellectual disability-seizures-psoriasis syndrome,Disease,Disorder,,0010652,Q87.8,309480,C2931381,C536978,,5238,X-linked intellectual disability-seizures-psoriasis syndrome,"Infancy, Neonatal",X-linked recessive
263731,Partial deletion of the short arm of the chromosome X syndrome,Category,Group of disorders,,0017004,,,C5679689,,,,,,
3046,"OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type",Malformation syndrome,Disorder,,,,,,,,,,,
263726,Partial deletion of chromosome X syndrome,Category,Group of disorders,,0017003,,,C5679690,,,,,,
3047,"Blepharophimosis-intellectual disability syndrome, SBBYS type",Malformation syndrome,Disorder,5A00.0Y,0011365,Q87.8,603736,C1863557,C536717,,,"Blepharophimosis-intellectual disability syndrome, SBBYS type","Antenatal, Infancy, Neonatal",Autosomal dominant
263723,Polysomy of X chromosome syndrome,Category,Group of disorders,,,,,C5680726,,,,,,
3043,OBSOLETE: Intellectual disability-unusual facies syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
263720,X chromosome number anomaly with male phenotype syndrome,Category,Group of disorders,,,,,C5680727,,,,,,
3044,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,Malformation syndrome,Disorder,,0009581,Q87.8,249599,C1855303,C537447,,9811,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,Childhood,Unknown
263714,X chromosome number anomaly syndrome,Category,Group of disorders,,,,,C4736187,,,,,,
3042,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,Malformation syndrome,Disorder,,0009798,Q87.8,259050,C0796121,C536420,,4488,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,"Childhood, Infancy",Autosomal dominant
263717,X chromosome number anomaly with female phenotype syndrome,Category,Group of disorders,,,,,C5680728,,,,,,
3041,Intellectual disability-balding-patella luxation-acromicria syndrome,Malformation syndrome,Disorder,LD24.8Y,0010505,Q87.8,300977,C1866985,C536638,,257,Intellectual disability-balding-patella luxation-acromicria syndrome,"Infancy, Neonatal",X-linked recessive
263708,Complex chromosomal rearrangement syndrome,Category,Group of disorders,,,,,C5680729,,,,,,
263711,OBSOLETE: X chromosome anomaly,Category,Group of disorders,,,,,,,,,,,
3038,Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,Malformation syndrome,Disorder,,0008445,Q87.0,182875,C2931119,C536146,,3449,Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,Childhood,
263665,NK-cell enteropathy,Disease,Disorder,DA94.Y,0016996,K52.8,,C4509932,,,,NK-cell enteropathy,Adult,Not applicable
263676,OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features,Category,Group of disorders,,,,,,,,,,,
263558,OBSOLETE: Peeling skin syndrome type C,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3035,Growth delay-hydrocephaly-lung hypoplasia syndrome,Malformation syndrome,Disorder,,0009362,Q87.8,236640,C1856052,C535406,,2427,Growth delay-hydrocephaly-lung hypoplasia syndrome,Antenatal,
263662,Familial multiple meningioma,Disease,Disorder,2A01.00,0016995,D32.9,607174,C4707361,,,,Familial multiple meningioma,All ages,Autosomal dominant
3034,Delayed membranous cranial ossification,Malformation syndrome,Disorder,LB70.Y,0007971,Q75.8,155980,C1835030,C563592,,1727,Delayed membranous cranial ossification,"Infancy, Neonatal",
263548,Peeling skin syndrome type A,Clinical subtype,Subtype of disorder,EC20.1,0014555,Q80.8,616265,C5679692,,,,Peeling skin syndrome type A,"Infancy, Neonatal",Autosomal recessive
3033,Renal tubular dysgenesis,Malformation syndrome,Disorder,LB30.3,0017609,Q63.8,267430,C0266313,,,379,Renal tubular dysgenesis,Antenatal,"Autosomal recessive, Not applicable"
263553,Peeling skin syndrome type B,Clinical subtype,Subtype of disorder,EC20.1,0024548,Q80.8,270300,C5679693,,,,Peeling skin syndrome type B,"Infancy, Neonatal",Autosomal recessive
3032,NPHP3-related Meckel-like syndrome,Malformation syndrome,Disorder,LD2F.13,0009966,Q61.9,267010,C2673885,,,4665,NPHP3-related Meckel-like syndrome,Childhood,Autosomal recessive
263534,Acral peeling skin syndrome,Disease,Disorder,EC20.1,0012345,Q80.8,609796,C1853354,C536316,10078538,12863,Acral peeling skin syndrome,"Infancy, Neonatal",Autosomal recessive
263543,Generalized peeling skin syndrome,Disease,Disorder,EC20.1,0010033,Q80.8,270300,C4305156,,,12862,Generalized peeling skin syndrome,"Infancy, Neonatal",Autosomal recessive
263516,Progressive myoclonic epilepsy type 3,Disease,Disorder,8A61.41,0012721,G40.3,611726,C2673257,C567095,,2167,Progressive myoclonic epilepsy type 3,"Childhood, Infancy",Autosomal recessive
3029,NON RARE IN EUROPE: Horseshoe kidney,Morphological anomaly,Disorder,,,Q63.1,,,,,,,,
263524,Acute necrotizing encephalopathy of childhood,Disease,Disorder,8E47,0016991,G31.8,614212,C4706387,,,,Acute necrotizing encephalopathy of childhood,Childhood,Not applicable
263501,COG4-CDG,Disease,Disorder,5C54.2,0013281,E77.8,613489,C4303552,,,12412,COG4-CDG,"Infancy, Neonatal",Autosomal recessive
3026,Radial ray hypoplasia-choanal atresia syndrome,Malformation syndrome,Disorder,,0008358,Q87.8,179270,C2931464,C537280,,4627,Radial ray hypoplasia-choanal atresia syndrome,"Infancy, Neonatal",Autosomal dominant
263508,COG1-CDG,Disease,Disorder,5C54.2,0012637,E77.8,611209,C2931011,C535756,,10226,COG1-CDG,"Infancy, Neonatal",Autosomal recessive
263482,"Spondyloepimetaphyseal dysplasia, Maroteaux type",Disease,Disorder,LD24.3,0008473,Q77.7,184095,C3159322,,,994,"Spondyloepimetaphyseal dysplasia, Maroteaux type","Infancy, Neonatal",Not applicable
3021,RAPADILINO syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009955,Q87.1,266280,C1849453,C535288,10088963,4637,RAPADILINO syndrome,"Infancy, Neonatal",Autosomal recessive
3022,Rapp-Hodgkin syndrome,Disease,Disorder,,,,129400,C1785148,C535289,,,,,
263479,Fuchs heterochromic iridocyclitis,Disease,Disorder,9A96.1,0016989,H20.8,,C0016782,,10017406,6791,Fuchs heterochromic iridocyclitis,Adult,
263494,DPM3-CDG,Disease,Disorder,5C54.0,0013049,E77.8,612937,C2752007,C567857,,12395,DPM3-CDG,Childhood,Autosomal recessive
3023,External auditory canal atresia-vertical talus-hypertelorism syndrome,Malformation syndrome,Disorder,,0007587,Q87.8,133705,C2930867,C535290,,4638,External auditory canal atresia-vertical talus-hypertelorism syndrome,Neonatal,"Autosomal dominant, Not applicable, Unknown"
263487,COG5-CDG,Disease,Disorder,5C54.2,0013325,E77.8,613612,C3150876,,,12348,COG5-CDG,Childhood,Autosomal recessive
263458,Hyperinsulinism due to INSR deficiency,Disease,Disorder,5A4Y,0012381,E16.1,609968,C4303474,,,,Hyperinsulinism due to INSR deficiency,"Adolescent, Adult",Autosomal dominant
263455,Congenital hyperinsulinism due to HNF4A deficiency,Disease,Disorder,,16988,E16.1,,C4274078,,,,Congenital hyperinsulinism due to HNF4A deficiency,"Infancy, Neonatal",Autosomal dominant
1832,Osteosclerotic bone dysplasia,Malformation syndrome,Disorder,LD24.1Y,0009821,Q78.2,259775,C1850106,C535282,10087908,282,Osteosclerotic bone dysplasia,"Antenatal, Neonatal",Autosomal recessive
3018,Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,Malformation syndrome,Disorder,,0010177,E78.8,277175,C4510224,C535283,,4635,Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,"Infancy, Neonatal",Unknown
3019,Ramon syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009954,Q87.8,266270,C0796133,C535285,,7523,Ramon syndrome,Infancy,Autosomal recessive
263463,CHST3-related skeletal dysplasia,Disease,Disorder,LD24.3,7738,Q74.8,143095,C1837657,,,13169,CHST3-related skeletal dysplasia,"Antenatal, Neonatal",Autosomal recessive
263432,Nevus of Ito,Disease,Disorder,LC10,0016985,D22.6,,C0022283,,,10830,Nevus of Ito,All ages,Not applicable
263425,Nevus of Ota,Disease,Disorder,LC10,0016984,D22.3,,C0027961,D009507,10051713,,Nevus of Ota,All ages,Not applicable
3015,Radio-renal syndrome,Malformation syndrome,Disorder,,0008359,Q87.8,179280,C2931146,C536267,,224,Radio-renal syndrome,Neonatal,
263440,Neuroacanthocytosis,Clinical group,Group of disorders,,0016987,,,C0393576,D054546,10081506,10902,,,
263435,Congenital smooth muscle hamartoma,Disease,Disorder,,0016986,C44.8,,C0406819,,,,Congenital smooth muscle hamartoma,"Infancy, Neonatal",Not applicable
3016,Absent radius-anogenital anomalies syndrome,Malformation syndrome,Disorder,,0010718,Q87.8,312190,C4749807,C535281,,4633,Absent radius-anogenital anomalies syndrome,"Antenatal, Neonatal",
263410,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,Disease,Disorder,,0016981,E88.8,607483,C5190692,,,,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,"Infancy, Neonatal",Autosomal recessive
3010,Qazi-Markouizos syndrome,Disease,Disorder,,0010816,Q87.8,600096,C2931142,C536259,,371,Qazi-Markouizos syndrome,"Infancy, Neonatal",
263355,OBSOLETE: ATR-X-related syndrome,Category,Group of disorders,,,,,,,,,,,
3011,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,Disease,Disorder,,0010051,G82.4,270950,C4509974,,,4932,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,Childhood,Autosomal recessive
263417,Bartter syndrome with hypocalcemia,Clinical subtype,Subtype of disorder,,,,,,,,,,,
769,Rabson-Mendenhall syndrome,Malformation syndrome,Disorder,5A44,0009874,E34.8,262190,C0271695,,10088742,226,Rabson-Mendenhall syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
263413,Angiosarcoma,Disease,Disorder,2B56,0016982,C49.9,,C0018923,,10002476,,Angiosarcoma,Adult,Not applicable
3003,Pyknoachondrogenesis,Malformation syndrome,Disorder,FB82.Y,0009942,Q78.8,265880,C1849523,C536251,,4610,Pyknoachondrogenesis,"Antenatal, Neonatal",Autosomal recessive
263335,Moderately-differentiated thymic neuroendocrine carcinoma,Histopathological subtype,Subtype of disorder,2C27.1,0016977,C37,,C5680730,,,,Moderately-differentiated thymic neuroendocrine carcinoma,Adult,Not applicable
263339,Poorly differentiated thymic neuroendocrine carcinoma,Histopathological subtype,Subtype of disorder,2C27.1,0016978,C37,,C4305466,,,,Poorly differentiated thymic neuroendocrine carcinoma,Adult,Not applicable
3005,Pyle disease,Disease,Disorder,LD24.1Y,0009943,Q78.5,265900,C0265294,C536252,10066147,4612,Pyle disease,"Infancy, Neonatal",Autosomal recessive
263347,MRCS syndrome,Disease,Disorder,9E1Y,0016979,H35.5,619082,C4749856,,,,MRCS syndrome,Childhood,Autosomal dominant
263352,Postcardiotomy right ventricular failure,Particular clinical situation in a disease or syndrome,Disorder,,,I97.8,,C5680731,,,20898,Postcardiotomy right ventricular failure,All ages,Not applicable
3004,Mirror polydactyly-vertebral segmentation-limbs defects syndrome,Malformation syndrome,Disorder,LD26.2,0017583,Q87.2,,C4275100,,,,Mirror polydactyly-vertebral segmentation-limbs defects syndrome,"Antenatal, Infancy, Neonatal",
263310,Thymoma type A,Histopathological subtype,Subtype of disorder,2C27.2,0002588,D15.0,,C1266091,,,,Thymoma type A,Adult,Not applicable
2997,Ptosis-vocal cord paralysis syndrome,Malformation syndrome,Disorder,CA0H.0,0008665,J38.0,193240,C1860403,C536923,,427,Ptosis-vocal cord paralysis syndrome,Neonatal,
263317,Thymoma type B,Histopathological subtype,Subtype of disorder,2C27.2,0016974,D15.0,,C1328042,,,,Thymoma type B,Adult,Not applicable
263324,Thymoma type AB,Histopathological subtype,Subtype of disorder,2C27.2,0016975,D15.0,,C1266092,,,,Thymoma type AB,Adult,Not applicable
2999,Ptosis-strabismus-ectopic pupils syndrome,Malformation syndrome,Disorder,LA10.Y,0008341,Q10.0,178330,C4511968,,,4577,Ptosis-strabismus-ectopic pupils syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
263331,Well-differentiated thymic neuroendocrine carcinoma,Histopathological subtype,Subtype of disorder,2C27.1,0016976,C37,,C4305465,,,,Well-differentiated thymic neuroendocrine carcinoma,Adult,Not applicable
2998,Carnevale syndrome,Malformation syndrome,Disorder,,,,265050,C0796279,,,,,,
263054,OBSOLETE: Uniparental disomy of chromosome 15,Category,Group of disorders,,,,,,,,,,,
263059,OBSOLETE: Uniparental disomy of chromosome 20,Category,Group of disorders,,,,,,,,,,,
2990,Autosomal recessive multiple pterygium syndrome,Malformation syndrome,Disorder,LD26.40,0009926,Q79.8,265000,C0265261,,,7111,Autosomal recessive multiple pterygium syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
263064,OBSOLETE: Uniparental disomy of chromosome 21,Category,Group of disorders,,,,,,,,,,,
263297,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,Disease,Disorder,5C51.3,0013291,E74.0,613507,C4303568,,,,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,Childhood,Autosomal recessive
263034,OBSOLETE: Uniparental disomy of chromosome 11,Category,Group of disorders,,,,,,,,,,,
2987,Antecubital pterygium syndrome,Malformation syndrome,Disorder,,0008339,Q87.2,178200,C1867439,C566738,,4570,Antecubital pterygium syndrome,"Infancy, Neonatal",Autosomal dominant
2985,Pseudoprogeria syndrome,Malformation syndrome,Disorder,,0008694,Q87.8,200130,C0796125,C563111,,415,Pseudoprogeria syndrome,"Infancy, Neonatal",Unknown
263044,OBSOLETE: Uniparental disomy of chromosome 13,Category,Group of disorders,,,,,,,,,,,
2989,Familial pterygium of the conjunctiva,Morphological anomaly,Disorder,9A61.1,0008337,H11.0,178000,C4274782,,,4569,Familial pterygium of the conjunctiva,"Adolescent, Adult",Autosomal dominant
263049,OBSOLETE: Uniparental disomy of chromosome 14,Category,Group of disorders,,,,,,,,,,,
2988,Pterygium colli-intellectual disability-digital anomalies syndrome,Malformation syndrome,Disorder,,0010835,Q87.0,600159,C1838562,C535831,,,Pterygium colli-intellectual disability-digital anomalies syndrome,Neonatal,"Autosomal dominant, X-linked dominant"
262995,Partial duplication of the long arm of chromosome 20 syndrome,Category,Group of disorders,LD41.K0,0016970,,,C5679695,,,,,,
262986,Partial duplication of the long arm of chromosome 19 syndrome,Category,Group of disorders,LD41.J0,0016969,,,C5679696,,,,,,
3138,Ulnar-mammary syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008411,Q71.8,181450,C1866994,C536937,10084409,118,Ulnar-mammary syndrome,"Adolescent, Antenatal, Infancy, Neonatal",Autosomal dominant
262977,Partial duplication of the long arm of chromosome 18 syndrome,Category,Group of disorders,LD41.H0,0016968,,,C5679697,,,,,,
262968,Partial duplication of the long arm of chromosome 17 syndrome,Category,Group of disorders,LD41.G0,0016967,,,C5679698,,,,,,
263029,OBSOLETE: Uniparental disomy of chromosome 7,Category,Group of disorders,,,,,,,,,,,
3145,Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome,Disease,Disorder,GB90.4A,0009099,N25.1,221995,C2931070,C535949,,259,Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome,Infancy,
263024,OBSOLETE: Uniparental disomy of chromosome 6,Category,Group of disorders,,,,,,,,,,,
263019,OBSOLETE: Uniparental disomy of chromosome 1,Category,Group of disorders,,,,,,,,,,,
3143,Autoimmune polyendocrinopathy type 2,Disease,Disorder,5B00,0010012,E31.0,269200,C0085860,,10036073,7611,Autoimmune polyendocrinopathy type 2,Adult,
3144,Schneckenbecken dysplasia,Malformation syndrome,Disorder,LD24.3,0010013,Q77.7,269250,C0432194,C536637,,169,Schneckenbecken dysplasia,Antenatal,Autosomal recessive
263004,Partial duplication of the long arm of chromosome 22 syndrome,Category,Group of disorders,LD41.M,0016972,,,C5679699,,,,,,
262923,Partial duplication of the long arm of chromosome 11 syndrome,Category,Group of disorders,,0022173,,,C5679700,,,,,,
3132,Say-Barber-Miller syndrome,Malformation syndrome,Disorder,4A01.0Y,0009620,Q87.8,251240,C2931267,C536618,,239,Say-Barber-Miller syndrome,"Antenatal, Infancy, Neonatal",Unknown
262914,Partial duplication of the long arm of chromosome 10 syndrome,Category,Group of disorders,LD41.90,0016961,,,C5679701,,,,,,
262905,Partial duplication of the long arm of chromosome 9 syndrome,Category,Group of disorders,LD41.81,0016960,,,C5679702,,,,,,
3128,OBSOLETE: Sakati-Nyhan syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
3130,Satoyoshi syndrome,Disease,Disorder,4A4Y,0010922,M35.8,600705,C1833454,C536616,10070579,160,Satoyoshi syndrome,"Adolescent, Adult, Childhood",Not applicable
262896,Partial duplication of the long arm of chromosome 8 syndrome,Category,Group of disorders,LD41.70,0016959,,,C5679703,,,,,,
262959,Partial duplication of the long arm of chromosome 16 syndrome,Category,Group of disorders,LD41.F0,0016966,,,C5566361,,,,,,
798,Schinzel-Giedion syndrome,Malformation syndrome,Disorder,LD27.0Y,0010010,Q87.0,269150,C0265227,C536632,10063540,117,Schinzel-Giedion syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
262950,Partial duplication of the long arm of chromosome 15 syndrome,Category,Group of disorders,LD41.E,0016965,,,C5566335,,,,,,
3133,OBSOLETE: Say-Field-Coldwell syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
262941,Partial duplication of the long arm of chromosome 14 syndrome,Category,Group of disorders,LD41.D,0016964,,,C5679704,,,,,,
3134,SCARF syndrome,Malformation syndrome,Disorder,LD28.2,0010728,Q82.8,312830,C1839321,C536625,,247,SCARF syndrome,"Infancy, Neonatal",X-linked recessive
262932,Partial duplication of the long arm of chromosome 13 syndrome,Category,Group of disorders,LD41.C,0022177,,,C5679705,,,,,,
3121,Ruvalcaba syndrome,Malformation syndrome,Disorder,,0008395,Q87.8,180870,C0265248,C579395,,4748,Ruvalcaba syndrome,"Infancy, Neonatal",Unknown
262842,Partial duplication of the long arm of chromosome 2 syndrome,Category,Group of disorders,LD41.10,0016953,,,C5679706,,,,,,
262851,Partial duplication of the long arm of chromosome 3 syndrome,Category,Group of disorders,LD41.20,0016954,,,C5679707,,,,,,
3118,Rudiger syndrome,Malformation syndrome,Disorder,,,,268650,C3502049,,,,,,
262833,Partial duplication of the long arm of chromosome 1 syndrome,Category,Group of disorders,LD41.00,0016952,,,C4708598,,,,,,
262878,Partial duplication of the long arm of chromosome 6 syndrome,Category,Group of disorders,LD41.50,0016957,,,C5679708,,,,,,
262887,Partial duplication of the long arm of chromosome 7 syndrome,Category,Group of disorders,LD41.60,0016958,,,C5679709,,,,,,
262860,Partial duplication of the long arm of chromosome 4 syndrome,Category,Group of disorders,LD41.30,0016955,,,C5679710,,,,,,
3123,"Brittle hair syndrome, Sabinas type",Malformation syndrome,Disorder,,,,211390,C0796271,C536320,,,,,
262869,Partial duplication of the long arm of chromosome 5 syndrome,Category,Group of disorders,LD41.40,0016956,,,C4518494,,,,,,
3122,OBSOLETE: Sinus node disease-myopia syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
262767,Partial duplication/triplication of the short arm of chromosome 9 syndrome,Category,Group of disorders,,,,,C5679711,,,,,,
3112,Patella aplasia-coxa vara-tarsal synostosis syndrome,Disease,Disorder,,,,,C1868581,C536307,,,,,
262776,Partial duplication of the short arm of chromosome 10 syndrome,Category,Group of disorders,LD41.91,0016947,,,C5679712,,,,,,
2909,Rothmund-Thomson syndrome,Disease,Disorder,LD2B,0010002,Q82.8,615789,C0032339,D011038,,4392,Rothmund-Thomson syndrome,"Infancy, Neonatal",Autosomal recessive
262749,Partial duplication of the short arm of chromosome 7 syndrome,Category,Group of disorders,LD41.61,0016944,,,C5679713,,,,,,
3110,Rombo syndrome,Disease,Disorder,,0008390,L98.8,180730,C1867147,C535870,,4738,Rombo syndrome,Childhood,Unknown
262758,Partial duplication of the short arm of chromosome 8 syndrome,Category,Group of disorders,LD41.71,0016945,,,C4708597,,,,,,
262803,Partial duplication of the short arm of chromosome 17 syndrome,Category,Group of disorders,LD41.G1,0016950,,,C5679714,,,,,,
431,Ichthyosis-male hypogonadism syndrome,Disease,Disorder,,,,308200,,C537365,,,,,
262812,Partial duplication/triplication of the short arm of chromosome 18 syndrome,Category,Group of disorders,,0016951,,,C5679715,,,,,,
3115,Roussy-Lévy syndrome,Disease,Disorder,8C20.Y,0008392,G60.0,180800,C0205713,,10063449,4741,Roussy-Lévy syndrome,"Childhood, Infancy",Autosomal dominant
262785,Partial duplication of the short arm of chromosome 11 syndrome,Category,Group of disorders,,0016948,,,C5679716,,,,,,
262794,Partial duplication of the short arm of chromosome 16 syndrome,Category,Group of disorders,LD41.F1,0016949,,,C5566360,,,,,,
3101,Richieri Costa-da Silva syndrome,Malformation syndrome,Disorder,,0009716,Q87.8,255710,C2930978,C535675,,4709,Richieri Costa-da Silva syndrome,Childhood,
262687,Partial duplication of chromosome 19 syndrome,Category,Group of disorders,,0016937,,,C4518507,,,,,,
3102,Richieri Costa-Pereira syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009998,Q87.8,268305,C1849348,C535677,,4718,Richieri Costa-Pereira syndrome,"Infancy, Neonatal",Autosomal recessive
262682,Partial duplication/triplication of chromosome 18 syndrome,Category,Group of disorders,,0016936,,,C5816684,,,,,,
3104,Robin sequence-oligodactyly syndrome,Malformation syndrome,Disorder,,0008247,Q87.0,172880,C4749398,C535688,,4729,Robin sequence-oligodactyly syndrome,Neonatal,
262698,Partial duplication of the short arm of chromosome 2 syndrome,Category,Group of disorders,LD41.11,0016939,,,C5679718,,,,,,
3105,Robinow-like syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
262692,Partial duplication of chromosome 20 syndrome,Category,Group of disorders,,0016938,,,C4518509,,,,,,
3106,Robinow-Sorauf syndrome,Malformation syndrome,Disorder,,,,180750,C1867146,C537183,,,,,
262716,Partial duplication of the short arm of chromosome 4 syndrome,Category,Group of disorders,LD41.31,0016941,,,C5679719,,,,,,
262707,Partial duplication of the short arm of chromosome 3 syndrome,Category,Group of disorders,LD41.21,0016940,,,C5679720,,,,,,
3107,Autosomal dominant Robinow syndrome,Clinical subtype,Subtype of disorder,LD24.A,0008389,Q87.1,616894,C5200540,,,,Autosomal dominant Robinow syndrome,"Infancy, Neonatal",Autosomal dominant
262740,Partial duplication of the short arm of chromosome 6 syndrome,Category,Group of disorders,LD41.51,0016943,,,C5679721,,,,,,
262725,Partial duplication/triplication of the short arm of chromosome 5 syndrome,Category,Group of disorders,,0016942,,,C5679722,,,,,,
3109,Mayer-Rokitansky-Küster-Hauser syndrome,Malformation syndrome,Disorder,LB44.Y,0017771,Q51.8,601076,C0431648,,10065148,,Mayer-Rokitansky-Küster-Hauser syndrome,"Adolescent, Antenatal","Autosomal dominant, Not applicable"
262643,Partial duplication/triplication of chromosome 9 syndrome,Category,Group of disorders,,0016930,,,C5816685,,,,,,
262638,Partial duplication of chromosome 8 syndrome,Category,Group of disorders,,0016929,,,C2931671,C537941,,,,,
3086,Autosomal dominant vitreoretinochoroidopathy,Disease,Disorder,9B70,0008662,H35.5,193220,C3888099,C536352,,5507,Autosomal dominant vitreoretinochoroidopathy,All ages,Autosomal dominant
3087,Retinohepatoendocrinologic syndrome,Malformation syndrome,Disorder,,,,268040,C1849399,,,4685,,,
262653,Partial duplication of chromosome 11 syndrome,Category,Group of disorders,LD41.A,0016932,,,C4518499,,,,,,
3088,Revesz syndrome,Malformation syndrome,Disorder,3A70.0,0009990,Q82.8,268130,C1327916,C538371,,4695,Revesz syndrome,"Childhood, Infancy",Autosomal dominant
262648,Partial duplication of chromosome 10 syndrome,Category,Group of disorders,,0016931,,,C4518498,,,,,,
3090,Congenital pulmonary venous return anomaly,Clinical group,Group of disorders,,0017705,,,C0265916,,10058079,4599,,,
262658,Partial duplication/triplication of the short arm of chromosome 12 syndrome,Category,Group of disorders,,0016933,,,C5679724,,,,,,
3097,Meacham syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012164,Q87.8,608978,C1837026,C538162,,3432,Meacham syndrome,"Infancy, Neonatal",Autosomal dominant
3098,"Rhizomelic syndrome, Urbach type",Malformation syndrome,Disorder,LD24.A,0009996,Q87.1,268250,C4749613,C537611,,4705,"Rhizomelic syndrome, Urbach type",Neonatal,
262677,Partial duplication of chromosome 17 syndrome,Category,Group of disorders,,0016935,,,C4518505,,,,,,
262672,Partial duplication of chromosome 16 syndrome,Category,Group of disorders,,0016934,,,C4518504,,,,,,
262182,Partial deletion of the long arm of chromosome 22 syndrome,Category,Group of disorders,,0022760,,,C5679725,,,,,,
262191,Partial duplication of chromosome 1 syndrome,Category,Group of disorders,,0016921,,,C4518488,,,,,,
262196,Partial duplication of chromosome 2 syndrome,Category,Group of disorders,,0016922,,,C4518490,,,,,,
262201,Partial duplication of chromosome 3 syndrome,Category,Group of disorders,,0016923,,,C4518491,,,,,,
3078,"Severe X-linked intellectual disability, Gustavson type",Malformation syndrome,Disorder,LD90,0010661,F72.9,309555,C4302744,,,5611,"Severe X-linked intellectual disability, Gustavson type","Infancy, Neonatal",X-linked recessive
262206,Partial duplication of chromosome 4 syndrome,Category,Group of disorders,,0016924,,,C4518492,,,,,,
3077,X-linked intellectual disability-psychosis-macroorchidism syndrome,Malformation syndrome,Disorder,LD90,0010235,F71.1,300055,C0796222,,,3506,X-linked intellectual disability-psychosis-macroorchidism syndrome,Childhood,X-linked dominant
262211,Partial duplication/triplication of chromosome 5 syndrome,Category,Group of disorders,,0016925,,,C5816686,,,,,,
262628,Partial duplication of chromosome 6 syndrome,Category,Group of disorders,,0016927,,,C4518495,,,,,,
3080,"Intellectual disability, Wolff type",Malformation syndrome,Disorder,LD90,0010203,Q87.0,277990,C1848439,C537448,,,"Intellectual disability, Wolff type",Neonatal,
262633,Partial duplication of chromosome 7 syndrome,Category,Group of disorders,,0016928,,,C4518496,,,,,,
3079,"Intellectual disability, Buenos-Aires type",Malformation syndrome,Disorder,LD90,0009584,Q87.8,249630,C0796080,C563095,10089183,3485,"Intellectual disability, Buenos-Aires type",Neonatal,
262110,Partial deletion of the long arm of chromosome 14 syndrome,Category,Group of disorders,,0016912,,,C2931697,C538031,,,,,
3064,"OBSOLETE: X-linked intellectual disability, Wittner type",Disease,Disorder,,,,,,,,,,,
3063,"X-linked intellectual disability, Snyder type",Disease,Disorder,LD90,0010664,Q87.8,309583,C0796160,C536678,,5615,"X-linked intellectual disability, Snyder type","Adolescent, Childhood, Infancy",X-linked recessive
262119,Partial deletion of the long arm of chromosome 15 syndrome,Category,Group of disorders,,0016913,,,C2931708,C538038,,,,,
262128,Partial deletion of the long arm of chromosome 16 syndrome,Category,Group of disorders,LD44.G0,0016914,,,C4736186,,,,,,
3065,X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome,Disease,Disorder,,,,,,,,,,,
262137,Partial deletion of the long arm of chromosome 17 syndrome,Category,Group of disorders,LD44.H0,0016915,,,C5679727,,,,,,
262146,Partial deletion of the long arm of chromosome 18 syndrome,Category,Group of disorders,LD44.J0,,,,C5679728,,,,,,
3068,Intellectual disability-myopathy-short stature-endocrine defect syndrome,Disease,Disorder,LD90,0009671,Q87.8,253320,C1854663,C535458,,1358,Intellectual disability-myopathy-short stature-endocrine defect syndrome,Neonatal,
262155,Partial deletion of the long arm of chromosome 19 syndrome,Category,Group of disorders,LD44.K0,0016917,,,C5679729,,,,,,
3067,OBSOLETE: Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
262164,Partial deletion of the long arm of chromosome 20 syndrome,Category,Group of disorders,LD44.L0,0016918,,,C5679730,,,,,,
262173,Partial deletion of the long arm of chromosome 21 syndrome,Category,Group of disorders,LD44.M,0016919,,,C5679731,,,,,,
268843,"Malformation of the neurenteric canal, spinal cord and column",Category,Group of disorders,,,,,C5680733,,,,,,
2886,TARP syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010711,Q87.8,311900,C1839463,C536942,,10089,TARP syndrome,"Antenatal, Neonatal",X-linked recessive
268861,Primary tethered cord syndrome,Morphological anomaly,Disorder,LA07.0,0017086,Q06.8,,C4708602,,,4018,Primary tethered cord syndrome,"Infancy, Neonatal",
2885,Piebald trait-neurologic defects syndrome,Malformation syndrome,Disorder,,0008245,E70.3,172850,C1868311,C536955,,5133,Piebald trait-neurologic defects syndrome,No data available,
268838,OBSOLETE: Leptomyelolipoma,Morphological anomaly,Disorder,,,,,,,,,,,
2884,Piebaldism,Disease,Disorder,EC23.2Y,0008244,E70.3,172800,C0080024,D016116,10084262,4344,Piebaldism,"Infancy, Neonatal",Autosomal dominant
2881,Cutaneous photosensitivity-lethal colitis syndrome,Disease,Disorder,DB33.Y,0009051,L57.8,219095,C4303808,C536224,,1633,Cutaneous photosensitivity-lethal colitis syndrome,"Infancy, Neonatal",Autosomal recessive
268832,OBSOLETE: Lipoma associated with neurospinal dysraphism,Clinical group,Group of disorders,,,,,,,,,,,
2879,"Phocomelia, Schinzel type",Malformation syndrome,Disorder,LD2F.1Y,0010164,Q87.2,276820,C1848651,C535612,,9212,"Phocomelia, Schinzel type","Antenatal, Infancy, Neonatal",Autosomal recessive
268835,Lipomyelomeningocele,Morphological anomaly,Disorder,,,,,C1836022,,,10053,,,
2878,OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
268826,Parietal encephalocele,Clinical subtype,Subtype of disorder,LA01,0017081,Q01.8,,C0431294,,,,,,
268829,Basal encephalocele,Clinical subtype,Subtype of disorder,LA01,0017082,Q01.8,,C4023176,,,,,,
2895,Pinsky-Di George-Harley syndrome,Malformation syndrome,Disorder,,,,,C2931500,,,,,,
2894,OBSOLETE: Pilotto syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
268920,OBSOLETE: Isolated megalencephaly,Clinical subtype,Subtype of disorder,,,,,,,,,,,
268882,Arnold-Chiari malformation type I,Morphological anomaly,Disorder,LA07.4,7316,Q07.0,118420,C0750929,,10056944,9233,Arnold-Chiari malformation type I,"Infancy, Neonatal",Unknown
2892,Pilodental dysplasia-refractive errors syndrome,Malformation syndrome,Disorder,LD27.0Y,0009873,Q82.4,262020,C1849805,C535763,,277,Pilodental dysplasia-refractive errors syndrome,"Infancy, Neonatal",Autosomal recessive
2891,Pili torti-developmental delay-neurological abnormalities syndrome,Malformation syndrome,Disorder,,0009871,Q84.1,261990,C4274783,C537398,,4362,Pili torti-developmental delay-neurological abnormalities syndrome,Infancy,
268871,OBSOLETE: Primary syringomyelia/hydromyelia,Morphological anomaly,Disorder,,,,,,,,,,,
2889,Pili torti,Disease,Disorder,EC21.0,0009870,Q84.1,261900,C0263491,C562485,,4361,Pili torti,"Infancy, Neonatal",Autosomal recessive
268874,OBSOLETE: Congenital hydromyelia,Clinical subtype,Subtype of disorder,,,,,,,,,,,
2890,Pili torti-onychodysplasia syndrome,Malformation syndrome,Disorder,LD27.0Y,0017321,Q82.4,,C4509919,C537399,,4364,Pili torti-onychodysplasia syndrome,"Infancy, Neonatal",Autosomal recessive
268865,Neurenteric cyst,Morphological anomaly,Disorder,LA07.Y,0017087,Q06.8,,C0027806,,,,Neurenteric cyst,"Infancy, Neonatal",
2888,Pierre Robin syndrome-faciodigital anomaly syndrome,Malformation syndrome,Disorder,,0010710,Q87.8,311895,C2931064,C564078,,1274,Pierre Robin syndrome-faciodigital anomaly syndrome,"Infancy, Neonatal",X-linked recessive
268868,Isolated amyelia,Morphological anomaly,Disorder,LA07.2,0017088,Q06.0,,C0266510,,,,Isolated amyelia,"Infancy, Neonatal",
268770,OBSOLETE: Upper thoracic spina bifida cystica,Clinical subtype,Subtype of disorder,,,,,,,,,,,
2865,Short stature-webbed neck-heart disease syndrome,Malformation syndrome,Disorder,,0017315,Q87.8,,C2930950,C535613,,583,Short stature-webbed neck-heart disease syndrome,"Infancy, Neonatal",Unknown
2866,Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,Malformation syndrome,Disorder,LD2H.Y,0017316,Q87.1,,C4274785,,,4841,Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,"Antenatal, Neonatal",
268766,OBSOLETE: Cervicothoracic spina bifida cystica,Clinical subtype,Subtype of disorder,,,,,,,,,,,
2863,Short stature-wormian bones-dextrocardia syndrome,Malformation syndrome,Disorder,,0008499,Q87.1,185120,C1861448,C566105,,4856,Short stature-wormian bones-dextrocardia syndrome,"Infancy, Neonatal",
268762,OBSOLETE: Cervical spina bifida cystica,Clinical subtype,Subtype of disorder,,,,,,,,,,,
2864,OBSOLETE: Short stature-prognathism-short femoral necks syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
268758,OBSOLETE: Lumbosacral spina bifida cystica,Clinical subtype,Subtype of disorder,,,,,,,,,,,
268752,OBSOLETE: Thoracolumbosacral spina bifida cystica,Clinical subtype,Subtype of disorder,,,,,,,,,,,
2861,OBSOLETE: Short stature-microcephaly-heart defect syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
268748,OBSOLETE: Total spina bifida cystica,Clinical subtype,Subtype of disorder,,,,,,,,,,,
268744,Spinal dysraphism with a posterior meningocele,Clinical group,Group of disorders,LA02.0,0017069,,,C0037917,D016137,10071011,,Spinal dysraphism with a posterior meningocele,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
268740,OBSOLETE: Upper thoracic spina bifida aperta,Clinical subtype,Subtype of disorder,,,,,,,,,,,
2860,OBSOLETE: Preeyasombat-Varavithya syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
2875,Phakomatosis pigmentovascularis,Disease,Disorder,LD2D.Y,0017318,Q85.8,,C1274879,C537894,,4312,Phakomatosis pigmentovascularis,Neonatal,Not applicable
268823,Occipital encephalocele,Clinical subtype,Subtype of disorder,LA01,0017080,Q01.2,,C0014067,,,,Occipital encephalocele,,Autosomal dominant
2876,PHAVER syndrome,Malformation syndrome,Disorder,,0009859,Q87.8,261575,C1849928,C538357,,4465,PHAVER syndrome,"Infancy, Neonatal",Autosomal recessive
268820,Cranial meningocele,Morphological anomaly,Disorder,LA01,0017079,Q01.0,,C0009694,,,,Cranial meningocele,"Infancy, Neonatal",
268817,Cephalocele,Clinical group,Group of disorders,LA01,0017078,Q01,,C0014065,,,,,,
2874,Phakomatosis pigmentokeratotica,Malformation syndrome,Disorder,LD2D.Y,0017317,Q85.8,,C2931658,C537893,,4311,Phakomatosis pigmentokeratotica,"Infancy, Neonatal",Unknown
268813,Myelocystocele,Clinical group,Group of disorders,LA02.02,0017077,Q05.9,,C4551677,,,,Myelocystocele,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
268810,Isolated posterior meningocele,Morphological anomaly,Disorder,LA02.0Y,17076,Q05.2,,C5680741,,,,Isolated posterior meningocele,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
2871,Pfeiffer-Palm-Teller syndrome,Malformation syndrome,Disorder,,0009858,Q87.1,261560,C1849929,C537889,,4305,Pfeiffer-Palm-Teller syndrome,Neonatal,
2872,"Cardiocranial syndrome, Pfeiffer type",Malformation syndrome,Disorder,LD2F.1Y,0009036,Q87.8,218450,C1857495,C535578,,8586,"Cardiocranial syndrome, Pfeiffer type","Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
2867,"Short stature, Brussels type",Malformation syndrome,Disorder,LD24.2Y,0011046,Q87.1,601350,C1832439,C537121,,4838,"Short stature, Brussels type","Infancy, Neonatal",Unknown
2868,Short stature-valvular heart disease-characteristic facies syndrome,Malformation syndrome,Disorder,,0007461,Q87.1,126190,C4274784,,,,Short stature-valvular heart disease-characteristic facies syndrome,"Infancy, Neonatal",Autosomal dominant
2846,Congenital pericardium anomaly,Category,Group of disorders,LA8D,0017300,,,C0685699,,,,Congenital pericardium anomaly,All ages,Not applicable
2842,Penoscrotal transposition,Morphological anomaly,Disorder,LB5Y,0017285,Q55.8,,C1868854,C536650,10067287,4273,Penoscrotal transposition,"Infancy, Neonatal","Autosomal recessive, Not applicable, X-linked recessive"
2848,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,Disease,Disorder,FA5Y,0008828,M12.8,208250,C1859690,C537560,10083494,306,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
2847,Pericardial and diaphragmatic defect,Malformation syndrome,Disorder,,0017301,Q79.1,,C4510305,,,,Pericardial and diaphragmatic defect,"Infancy, Neonatal","Autosomal recessive, Not applicable"
268357,Neural tube closure defect,Category,Group of disorders,,,,601634,C5680742,,,,,,
2838,Renal caliceal diverticuli-deafness syndrome,Malformation syndrome,Disorder,,0017281,Q64.8,,C5190738,,,4655,Renal caliceal diverticuli-deafness syndrome,Neonatal,
268322,Hereditary thrombocytopenia with normal platelets,Disease,Disorder,3B64.01,0017057,D69.4,612004,C5190888,,,,Hereditary thrombocytopenia with normal platelets,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
2837,Pellagra-like skin rash-neurological manifestations syndrome,Disease,Disorder,,,,260650,,,,,,,
2840,Pelvic dysplasia-arthrogryposis of lower limbs syndrome,Malformation syndrome,Disorder,,0011235,Q68.8,602484,C2930869,C535292,,4269,Pelvic dysplasia-arthrogryposis of lower limbs syndrome,"Antenatal, Neonatal",
2839,Pelvis-shoulder dysplasia,Malformation syndrome,Disorder,,0008217,Q87.5,169550,C1868508,C566811,,,Pelvis-shoulder dysplasia,"Infancy, Neonatal",Autosomal dominant
268337,Autosomal recessive intermediate Charcot-Marie-Tooth disease,Clinical group,Group of disorders,,0017058,,,C5679732,,,12452,Autosomal recessive intermediate Charcot-Marie-Tooth disease,,Autosomal recessive
268384,OBSOLETE: Thoracolumbosacral spina bifida aperta,Clinical subtype,Subtype of disorder,,,,,,,,,,,
2855,Perrault syndrome,Disease,Disorder,LD2H.Y,0017312,Q87.8,619737,C0685838,C537286,,2542,Perrault syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
2854,Fuhrmann syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009232,Q74.8,228930,C1856728,C538189,,2410,Fuhrmann syndrome,"Infancy, Neonatal",Autosomal recessive
268388,OBSOLETE: Lumbosacral spina bifida aperta,Clinical subtype,Subtype of disorder,,,,,,,,,,,
268392,OBSOLETE: Cervical spina bifida aperta,Clinical subtype,Subtype of disorder,,,,,,,,,,,
708,Peters anomaly,Morphological anomaly,Disorder,9C61.42,0011414,Q13.4,612968,C0344559,C537884,10059202,7377,Peters anomaly,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
268397,OBSOLETE: Cervicothoracic spina bifida aperta,Clinical subtype,Subtype of disorder,,,,,,,,,,,
268363,Open iniencephaly,Clinical subtype,Subtype of disorder,LA00.1,0017060,Q00.2,,C0431285,,,,Open iniencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
268366,Closed iniencephaly,Clinical subtype,Subtype of disorder,LA00.1,0017061,Q00.2,,C0431286,,,,Closed iniencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
2850,Alopecia-intellectual disability syndrome,Disease,Disorder,,0008756,Q87.8,613930,C2931280,C536660,,612,Alopecia-intellectual disability syndrome,Neonatal,Autosomal recessive
2853,Serpentine fibula-polycystic kidneys syndrome,Disease,Disorder,,,,,C1838257,C537586,,,,,
268369,Open spinal dysraphism,Clinical group,Group of disorders,LA02.1,0017062,Q05.7,,C0917813,,,,Open spinal dysraphism,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
268377,OBSOLETE: Total spina bifida aperta,Clinical subtype,Subtype of disorder,,,,,,,,,,,
268114,RAS-associated autoimmune leukoproliferative disease,Disease,Disorder,,0013767,D72.8,614470,C2674723,,,,RAS-associated autoimmune leukoproliferative disease,"Childhood, Infancy",Unknown
2825,PARC syndrome,Malformation syndrome,Disorder,,0010867,Q87.8,600331,C1838256,C537174,,4223,PARC syndrome,"Infancy, Neonatal",Autosomal dominant
2826,Spastic paraplegia-precocious puberty syndrome,Disease,Disorder,,0008443,G11.4,182820,C4518543,C536874,,4918,Spastic paraplegia-precocious puberty syndrome,Childhood,Autosomal dominant
268139,Intraocular medulloepithelioma,Disease,Disorder,,0017050,D31.4,,C1883694,,,,Intraocular medulloepithelioma,Childhood,Not applicable
268129,Spheroid body myopathy,Disease,Disorder,8C72.0Y,,G71.8,609200,C1866785,C000598645,,8711,Spheroid body myopathy,All ages,Autosomal dominant
2829,Partington-Anderson syndrome,Malformation syndrome,Disorder,,,,260555,C1850075,C536299,,,,,
2819,Spastic paraplegia-facial-cutaneous lesions syndrome,Malformation syndrome,Disorder,,0017275,G11.4,,C2931617,C537797,,806,Spastic paraplegia-facial-cutaneous lesions syndrome,Infancy,
2820,Spastic paraplegia-nephritis-deafness syndrome,Clinical syndrome,Disorder,LD2H.Y,0008440,G11.4,182690,C2931667,C537937,,2342,Spastic paraplegia-nephritis-deafness syndrome,No data available,Autosomal dominant
2821,Spastic paraplegia-neuropathy-poikiloderma syndrome,Disease,Disorder,,0008442,G11.4,182815,C4706448,C536870,,4921,Spastic paraplegia-neuropathy-poikiloderma syndrome,Childhood,
2822,Autosomal recessive spastic paraplegia type 11,Disease,Disorder,8B44.01,0011445,G11.4,604360,C2931821,C538335,,4919,Autosomal recessive spastic paraplegia type 11,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
2835,Pectus excavatum-macrocephaly-dysplastic nails syndrome,Malformation syndrome,Disorder,,0010883,Q87.5,600399,C2931302,C536728,,374,Pectus excavatum-macrocephaly-dysplastic nails syndrome,Neonatal,Unknown
268261,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,Etiological subtype,Subtype of disorder,LD44.M,0017056,Q93.5,614104,C5191008,,,,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,"Infancy, Neonatal","Not applicable, Unknown"
2836,PEHO syndrome,Disease,Disorder,LD90.Y,0009841,G31.8,260565,C1850055,C536317,10086607,4264,PEHO syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
268249,Mycophenolate mofetil embryopathy,Malformation syndrome,Disorder,LD2F.0Y,0017055,Q86.8,,C4509879,,,,Mycophenolate mofetil embryopathy,"Antenatal, Infancy, Neonatal",Not applicable
268316,Complication in hemodialysis,Particular clinical situation in a disease or syndrome,Disorder,PK81.6,,Y84.1,,C0274417,,10070476,,Complication in hemodialysis,All ages,Not applicable
268162,Intermediate maple syrup urine disease,Clinical subtype,Subtype of disorder,5C50.D0,0017052,E71.0,620699,C1621920,,,,Intermediate maple syrup urine disease,"Infancy, Neonatal",Autosomal recessive
2832,Short tarsus-absence of lower eyelashes syndrome,Malformation syndrome,Disorder,,0010855,Q87.2,600269,C1838328,C537036,,296,Short tarsus-absence of lower eyelashes syndrome,"Infancy, Neonatal",Autosomal dominant
268145,Classic maple syrup urine disease,Clinical subtype,Subtype of disorder,5C50.D0,0017051,E71.0,248600,C0268568,,,,Classic maple syrup urine disease,Neonatal,Autosomal recessive
268184,Thiamine-responsive maple syrup urine disease,Clinical subtype,Subtype of disorder,5C50.D0,0017054,E71.0,248600,C0751285,,,,Thiamine-responsive maple syrup urine disease,Infancy,Autosomal recessive
2833,Stiff skin syndrome,Disease,Disorder,EE6Y,0008492,L98.8,228020,C1861456,C566112,10085085,5025,Stiff skin syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
2834,Wrinkly skin syndrome,Clinical subtype,Subtype of disorder,LD2B,0010208,Q82.8,278250,C0406587,C536750,,273,Wrinkly skin syndrome,"Infancy, Neonatal",Autosomal recessive
268173,Intermittent maple syrup urine disease,Clinical subtype,Subtype of disorder,5C50.D0,0017053,E71.0,248600,C0268569,,,,Intermittent maple syrup urine disease,"Childhood, Infancy, Neonatal",Autosomal recessive
2969,Proteus-like syndrome,Clinical subtype,Subtype of disorder,LD2C,0017571,Q87.3,158350,C1866398,,,12801,Proteus-like syndrome,"Infancy, Neonatal",Autosomal dominant
2964,Autosomal dominant prognathism,Malformation syndrome,Disorder,DA0E.1,0008312,K07.1,176700,C4755315,,,10319,Autosomal dominant prognathism,Neonatal,Autosomal dominant
2962,De Barsy syndrome,Disease,Disorder,LD28.2,0017569,Q87.8,614438,C0268354,C535990,10083947,49,De Barsy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
2973,"46,XX difference of sex development-anorectal anomalies syndrome",Malformation syndrome,Disorder,LD2F.1Y,0017573,Q56.2,,C4518078,,,,"46,XX difference of sex development-anorectal anomalies syndrome",Neonatal,
2972,Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,Malformation syndrome,Disorder,,0010104,K07.0,273050,C2931509,C537496,,,Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,Childhood,No data available
750,Pseudoachondroplasia,Disease,Disorder,LD24.60,0008322,Q77.8,177170,C0410538,C535819,,4540,Pseudoachondroplasia,"Infancy, Neonatal",Autosomal dominant
2976,"Pseudoleprechaunism syndrome, Patterson type",Malformation syndrome,Disorder,LD90,0008211,E34.8,169170,C1868546,C536310,,4259,"Pseudoleprechaunism syndrome, Patterson type","Antenatal, Neonatal",
2975,"46,XX difference of sex development-skeletal anomalies syndrome",Malformation syndrome,Disorder,,0009915,Q56.2,264270,C4518077,,,,"46,XX difference of sex development-skeletal anomalies syndrome",No data available,Unknown
2980,Acrootoocular syndrome,Malformation syndrome,Disorder,,0009920,Q87.0,264475,C1849661,C564866,,4559,Acrootoocular syndrome,"Infancy, Neonatal",Autosomal recessive
2978,Chronic intestinal pseudoobstruction syndrome,Clinical syndrome,Disorder,DA90.2,0017574,K59.8,609629,C0238062,,,12744,Chronic intestinal pseudoobstruction syndrome,All ages,
264973,Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis,Category,Group of disorders,,,,,C5679733,,,,,,
264968,Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease,Category,Group of disorders,,,,,C5679734,,,,,,
2946,Brachydactyly-long thumb syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007212,Q87.2,112430,C1862169,C566204,,968,Brachydactyly-long thumb syndrome,"Infancy, Neonatal",Autosomal dominant
1848,"Renal agenesis, bilateral",Clinical subtype,Subtype of disorder,LB30.00,0015986,Q60.1,615721,C1609433,C536482,,,"Renal agenesis, bilateral","Antenatal, Neonatal",Autosomal recessive
264955,OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood,Category,Group of disorders,,,,,,,,,,,
264949,Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease,Category,Group of disorders,,,,,C5679735,,,,,,
2950,Triphalangeal thumb-polysyndactyly syndrome,Malformation syndrome,Disorder,,,,,,C536563,,,,,
2951,Absent thumb-short stature-immunodeficiency syndrome,Malformation syndrome,Disorder,4A01.1Y,0010123,D82.8,274190,C4304503,,,,Absent thumb-short stature-immunodeficiency syndrome,"Infancy, Neonatal",Unknown
264992,Genetic interstitial lung disease,Category,Group of disorders,,,,,C5679736,,,,,,
2947,Triphalangeal thumbs-brachyectrodactyly syndrome,Malformation syndrome,Disorder,LD26.2,0008607,Q74.8,190680,C1860804,C536564,,5290,Triphalangeal thumbs-brachyectrodactyly syndrome,Neonatal,Autosomal dominant
264984,Exposure-related interstitial lung disease,Category,Group of disorders,,,,,C5680745,,,,,,
264978,Drug or radiation exposure-related interstitial lung disease,Particular clinical situation in a disease or syndrome,Disorder,CB0Y,0017039,J70.4,,C5680746,,,,Drug or radiation exposure-related interstitial lung disease,All ages,
2956,Acrodysplasia scoliosis,Malformation syndrome,Disorder,,0017568,Q87.5,,C2931761,C538180,,491,Acrodysplasia scoliosis,Neonatal,
2952,"Adducted thumbs-arthrogryposis syndrome, Christian type",Malformation syndrome,Disorder,,0008724,Q74.8,201550,C4304055,,,10277,"Adducted thumbs-arthrogryposis syndrome, Christian type",Neonatal,Autosomal recessive
740,Hutchinson-Gilford progeria syndrome,Disease,Disorder,LD2B,0008310,E34.8,176670,C0033300,D011371,10036794,7467,Hutchinson-Gilford progeria syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
2959,Progeria-short stature-pigmented nevi syndrome,Malformation syndrome,Disorder,LD2B,0008311,Q87.1,176690,C1261128,C536422,,4494,Progeria-short stature-pigmented nevi syndrome,"Infancy, Neonatal",Unknown
2957,Guttmacher syndrome,Malformation syndrome,Disorder,LD26.2,0008301,Q87.2,176305,C1867801,C538278,,4470,Guttmacher syndrome,"Infancy, Neonatal",Autosomal dominant
2958,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,Malformation syndrome,Disorder,LD90,0010667,Q87.8,309610,C4304934,,,4482,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,Childhood,X-linked recessive
2924,Isolated polycystic liver disease,Malformation syndrome,Disorder,DB99.10,,Q44.6,617875,C4255088,C536330,10048834,9457,Isolated polycystic liver disease,Adult,"Autosomal dominant, Not applicable"
264694,Interstitial lung disease specific to infancy,Category,Group of disorders,,0017019,,,C5679737,,,,,,
264699,Secondary interstitial lung disease specific to childhood associated with a systemic disease,Category,Group of disorders,,,,,C5679738,,,,,,
264704,Secondary interstitial lung disease specific to childhood associated with a connective tissue disease,Category,Group of disorders,,,,,C5679739,,,,,,
2926,Digital extensor muscle aplasia-polyneuropathy,Malformation syndrome,Disorder,,0008809,Q87.8,207740,C2930955,C535624,,2589,Digital extensor muscle aplasia-polyneuropathy,Neonatal,
264709,Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis,Category,Group of disorders,,,,,C5679740,,,,,,
2925,OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
264714,Secondary interstitial lung disease specific to childhood associated with a granulomatous disease,Category,Group of disorders,,,,,C5679741,,,,,,
2928,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,Malformation syndrome,Disorder,,0017379,Q87.8,,C4749397,,,4424,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,Adult,
264719,Secondary interstitial lung disease specific to childhood associated with a metabolic disease,Category,Group of disorders,,,,,C5679742,,,,,,
264724,OBSOLETE: Langerhans cell histiocytosis specific to childhood,Category,Group of disorders,,,,,,,,,,,
2930,Cronkhite-Canada syndrome,Disease,Disorder,LD27.01,0008283,D12.6,175500,C0282207,,10062907,4427,Cronkhite-Canada syndrome,"Adult, Elderly",Not applicable
264735,Interstitial lung disease specific to adulthood,Category,Group of disorders,,0017026,,,C5679743,,,,,,
264740,Primary interstitial lung disease specific to adulthood,Category,Group of disorders,,,,,C5679744,,,,,,
2935,Crossed polysyndactyly,Malformation syndrome,Disorder,LD26.2,0008286,Q70.4,175690,C1867999,C566773,,1617,Crossed polysyndactyly,Antenatal,Autosomal dominant
264745,Secondary interstitial lung disease specific to adulthood associated with a systemic disease,Category,Group of disorders,,,,,C5679745,,,,,,
2934,Polysyndactyly-cardiac malformation syndrome,Malformation syndrome,Disorder,,0009900,Q87.8,263630,C1849719,C564875,,4428,Polysyndactyly-cardiac malformation syndrome,"Infancy, Neonatal",Autosomal recessive
264750,OBSOLETE: Langerhans cell histiocytosis specific to adulthood,Category,Group of disorders,,,,,,,,,,,
264757,Interstitial lung disease in childhood and adulthood,Category,Group of disorders,,,,,C5679746,,,,,,
264762,Primary interstitial lung disease in childhood and adulthood,Category,Group of disorders,,,,,C5679747,,,,,,
264930,Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder,Category,Group of disorders,,,,,C5679748,,,,,,
2941,Porencephaly-cerebellar hypoplasia-internal malformations syndrome,Malformation syndrome,Disorder,,0011036,Q87.8,601322,C0796119,,,4437,Porencephaly-cerebellar hypoplasia-internal malformations syndrome,"Antenatal, Neonatal",
264935,Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder,Category,Group of disorders,,,,,C5679749,,,,,,
264944,Secondary interstitial lung disease in childhood and adulthood,Category,Group of disorders,,,,,C5679750,,,,,,
2940,Porencephaly,Disease,Disorder,LA05.60,0017410,Q04.6,614483,C0302892,D065708,10036172,7430,Porencephaly,"Antenatal, Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
2896,Pitt-Hopkins syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012589,Q87.0,610954,C1970431,C537403,,4372,Pitt-Hopkins syndrome,"Infancy, Neonatal",Autosomal dominant
2899,Brachyolmia-amelogenesis imperfecta syndrome,Malformation syndrome,Disorder,LD24.5Y,0011018,Q76.3,601216,C1832594,C536538,,5478,Brachyolmia-amelogenesis imperfecta syndrome,Childhood,Autosomal recessive
2900,Leri pleonosteosis,Malformation syndrome,Disorder,,0007894,Q68.8,151200,C1835450,C537118,,88,Leri pleonosteosis,"Infancy, Neonatal",Autosomal dominant
264431,Partial duplication of the short arm of chromosome 1 syndrome,Category,Group of disorders,LD41.01,0017012,,,C5679751,,,,,,
2905,POEMS syndrome,Disease,Disorder,2A83.Y,0017364,D47.2,,C0085404,D016878,10053869,7411,POEMS syndrome,"Adult, Elderly",Unknown
264450,Trisomy 8p syndrome,Malformation syndrome,Disorder,,0017013,Q92.2,,C0795825,C538019,,,Trisomy 8p syndrome,"Antenatal, Neonatal",
2907,Hereditary acrokeratotic poikiloderma,Disease,Disorder,LD2B,0017365,Q82.8,,C0406556,,,,Hereditary acrokeratotic poikiloderma,"Infancy, Neonatal",
2911,Poland syndrome,Malformation syndrome,Disorder,LB73.10,0008262,Q79.8,173800,C0032357,D011045,10036007,7412,Poland syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable"
264580,Glycogen storage disease due to liver phosphorylase kinase deficiency,Disease,Disorder,5C51.3,0020693,E74.0,613027,C3694529,,,,Glycogen storage disease due to liver phosphorylase kinase deficiency,Childhood,"Autosomal recessive, X-linked recessive"
264656,Interstitial lung disease specific to childhood,Category,Group of disorders,,0017014,,,C5679752,,,,,,
2916,Postaxial polydactyly-dental and vertebral anomalies syndrome,Malformation syndrome,Disorder,,0009895,Q87.2,263540,C4750750,,,,Postaxial polydactyly-dental and vertebral anomalies syndrome,Neonatal,
264670,Primary interstitial lung disease specific to childhood due to alveolar structure disorder,Category,Group of disorders,,,,,C5679753,,,,,,
2917,Polydactyly-myopia syndrome,Malformation syndrome,Disorder,,0008268,Q87.2,174310,C1868117,C536331,,4413,Polydactyly-myopia syndrome,"Infancy, Neonatal",Autosomal dominant
264665,Primary interstitial lung disease specific to childhood,Category,Group of disorders,CB04,0017015,,,C5679754,,,10559,,,
264683,Primary interstitial lung disease specific to childhood due to alveolar vascular disorder,Category,Group of disorders,,,,,C5679755,,,,,,
2919,Orofaciodigital syndrome type 5,Malformation syndrome,Disorder,LD25.00,0008267,Q87.0,174300,C1868118,C557819,,4120,Orofaciodigital syndrome type 5,"Infancy, Neonatal",Autosomal recessive
264675,Hereditary pulmonary alveolar proteinosis,Disease,Disorder,CB04.31,0012580,J84.0,300770,C2931035,C535832,,4582,Hereditary pulmonary alveolar proteinosis,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal recessive
2920,Oliver syndrome,Malformation syndrome,Disorder,LD26.2,0009777,Q87.2,258200,C1850320,C564931,,4069,Oliver syndrome,"Infancy, Neonatal",Autosomal recessive
264691,Isolated pulmonary capillaritis,Disease,Disorder,CB04.4,0017018,J84.8,,C3873357,,,,Isolated pulmonary capillaritis,Childhood,Not applicable
2921,Preaxial polydactyly-colobomata-intellectual disability syndrome,Malformation syndrome,Disorder,,0017377,Q87.2,,C2931655,C537888,,4304,Preaxial polydactyly-colobomata-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
264688,Congenital chylothorax,Disease,Disorder,CB04.1,0011331,I89.8,603523,C0340014,C535461,10078770,10156,Congenital chylothorax,"Infancy, Neonatal","Not applicable, Unknown"
3374,Unilateral ocular duplication,Morphological anomaly,Disorder,LA10.Y,0031322,Q15.8,,C5816687,,,5286,Unilateral ocular duplication,Neonatal,Autosomal dominant
275803,Pulmonary arterial hypertension associated with congenital heart disease,Clinical group,Group of disorders,,,,,C3697119,,,,Pulmonary arterial hypertension associated with congenital heart disease,All ages,Not applicable
275808,Pulmonary arterial hypertension associated with HIV infection,Clinical group,Group of disorders,,,,,C3697673,,,,Pulmonary arterial hypertension associated with HIV infection,Adult,Not applicable
275813,Pulmonary arterial hypertension associated with portal hypertension,Clinical group,Group of disorders,,,,,C1868851,,10067281,,Pulmonary arterial hypertension associated with portal hypertension,Adult,No data available
1717,Distal duplication 19q syndrome,Malformation syndrome,Disorder,LD41.J0,0015744,Q92.3,,C4707664,,,,Distal duplication 19q syndrome,"Infancy, Neonatal",
3377,Trismus-pseudocamptodactyly syndrome,Malformation syndrome,Disorder,LD26.4Y,0008016,Q68.8,158300,C0265226,C535857,,2621,Trismus-pseudocamptodactyly syndrome,"Infancy, Neonatal",Autosomal dominant
275823,Pulmonary arterial hypertension associated with schistosomiasis,Clinical group,Group of disorders,,,,,C3697477,,,,Pulmonary arterial hypertension associated with schistosomiasis,All ages,Not applicable
3368,Trigonocephaly-bifid nose-acral anomalies syndrome,Malformation syndrome,Disorder,,0010154,Q87.0,275595,C4304969,,,5126,Trigonocephaly-bifid nose-acral anomalies syndrome,"Infancy, Neonatal",Unknown
275777,Heritable pulmonary arterial hypertension,Etiological subtype,Subtype of disorder,BB01.0,0017148,I27.0,178600,C0340543,,10085244,,Heritable pulmonary arterial hypertension,All ages,"Autosomal dominant, Autosomal recessive"
275786,Drug- or toxin-induced pulmonary arterial hypertension,Clinical group,Group of disorders,,0017149,,,C0340544,,,,Drug- or toxin-induced pulmonary arterial hypertension,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
275791,Pulmonary arterial hypertension associated with another disease,Category,Group of disorders,,,,,C5679756,,,,Pulmonary arterial hypertension associated with another disease,All ages,Not applicable
3369,Trigonocephaly-short stature-developmental delay syndrome,Malformation syndrome,Disorder,,0010749,Q87.0,314320,C1839125,C536620,,243,Trigonocephaly-short stature-developmental delay syndrome,No data available,Unknown
275798,Pulmonary arterial hypertension associated with connective tissue disease,Clinical group,Group of disorders,,,,,C3697982,,,,Pulmonary arterial hypertension associated with connective tissue disease,All ages,Not applicable
3363,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,Malformation syndrome,Disorder,LD27.0Y,0010152,Q87.1,275400,C1848745,C536554,,5266,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,"Infancy, Neonatal",Autosomal recessive
275749,Beta-thalassemia and related disorders,Category,Group of disorders,,0017145,D56.1,,C5680748,,,,,,
275752,Sickle cell disease,Category,Group of disorders,,,D57.0,,C5680749,,,,,,
3362,OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
275761,Lysosomal acid lipase deficiency,Disease,Disorder,5C56.0Y,,E75.5,278000,C5574740,,10077267,12097,Lysosomal acid lipase deficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
3366,Non-syndromic metopic craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0018065,Q75.0,614485,C0265535,,,,Non-syndromic metopic craniosynostosis,"Infancy, Neonatal","Autosomal dominant, Not applicable"
3365,Trigonocephaly-broad thumbs syndrome,Malformation syndrome,Disorder,,0018064,Q87.0,,C4304968,,,,Trigonocephaly-broad thumbs syndrome,"Infancy, Neonatal",Autosomal dominant
275766,Idiopathic pulmonary arterial hypertension,Etiological subtype,Subtype of disorder,BB01.0,0017147,I27.0,,C3203102,,10065151,,Idiopathic pulmonary arterial hypertension,All ages,Not applicable
275729,Rare hemorrhagic disorder due to a constitutional thrombocytopenia,Category,Group of disorders,,,,,C5679757,,,,,,
275736,Rare hemorrhagic disorder due to a qualitative platelet defect,Category,Group of disorders,,,,,C5679758,,,,,,
3357,OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly,Malformation syndrome,Disorder,,,,,,,,,,,
3361,Trichodysplasia-xeroderma syndrome,Malformation syndrome,Disorder,,0008598,L67.8,190360,C4707844,,,5261,Trichodysplasia-xeroderma syndrome,Neonatal,
275742,Genetic infertility,Category,Group of disorders,,,,,C5680750,,,,,,
275745,Alpha-thalassemia and related disorders,Category,Group of disorders,,,D56.0,,C5680751,,,,,,
3408,Upington disease,Malformation syndrome,Disorder,LD24.2Y,0008624,M91.8,191520,C1860596,C536472,,5421,Upington disease,No data available,Autosomal dominant
276148,Benign epithelial tumor of salivary glands,Disease,Disorder,2E91,0017168,D11.7,181030,C5190858,,,,Benign epithelial tumor of salivary glands,,Not applicable
3409,Urban-Rogers-Meyer syndrome,Malformation syndrome,Disorder,,0009905,Q87.8,264010,C0796189,C538276,,5426,Urban-Rogers-Meyer syndrome,Infancy,
276145,Malignant epithelial tumor of salivary glands,Disease,Disorder,2B67.Y,0017167,C08.8,,C5190832,,,,Malignant epithelial tumor of salivary glands,Adult,Not applicable
276161,Multiple endocrine neoplasia,Clinical group,Group of disorders,2F7A.Y,0017169,D44.8,,C0027662,D009377,10028196,,Multiple endocrine neoplasia,All ages,"Autosomal dominant, Not applicable"
3412,VACTERL with hydrocephalus,Malformation syndrome,Disorder,LD2F.1Y,0010172,Q87.8,314390,C4305002,,,272,VACTERL with hydrocephalus,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
276152,Multiple endocrine neoplasia type 4,Disease,Disorder,2F7A.0,0012552,D44.8,610755,C1970712,C567059,,,Multiple endocrine neoplasia type 4,Adult,"Autosomal dominant, Not applicable"
3391,Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome,Malformation syndrome,Disorder,,,,129550,C1851850,,,,,,
276061,Genetic frontotemporal degeneration with dementia,Category,Group of disorders,,,,,C5680752,,,,,,
3403,Uhl anomaly,Morphological anomaly,Disorder,LA88.Y,0018084,Q24.8,107970,C0265857,C536932,10048951,,Uhl anomaly,"Infancy, Neonatal",Not applicable
276058,Genetic neurodegenerative disease with dementia,Category,Group of disorders,,,,,C5680753,,,,,,
3404,Ulbright-Hodes syndrome,Malformation syndrome,Disorder,,0009963,Q87.8,266910,C1849438,C537754,,5394,Ulbright-Hodes syndrome,Neonatal,Autosomal recessive
276142,Rare tumor of salivary glands,Category,Group of disorders,,,,,C5680754,,,,,,
276066,Bile acid CoA ligase deficiency and defective amidation,Disease,Disorder,5C52.11,0017165,K76.8,,C4274079,,,,Bile acid CoA ligase deficiency and defective amidation,"Infancy, Neonatal",Unknown
275872,Frontotemporal dementia with motor neuron disease,Disease,Disorder,6D83,0017161,G31.0,616439,C3888102,C566288,,,Frontotemporal dementia with motor neuron disease,Adult,Autosomal dominant
3383,Humerus trochlea aplasia,Malformation syndrome,Disorder,,0008611,Q74.0,191000,C1860773,C566022,,2750,Humerus trochlea aplasia,Neonatal,
3384,Common arterial trunk,Morphological anomaly,Disorder,LA85.4,0018072,Q20.0,217095,C0041207,D014339,10044703,,Common arterial trunk,"Infancy, Neonatal",Not applicable
275864,Behavioral variant of frontotemporal dementia,Disease,Disorder,6D83,0017160,G31.0,600274,C4011788,,,7392,Behavioral variant of frontotemporal dementia,Adult,Autosomal dominant
275944,Hemolytic disease of the newborn with Kell alloimmunization,Disease,Disorder,KA84.1,0017164,P55.8,,C0472751,,,,Hemolytic disease of the newborn with Kell alloimmunization,"Infancy, Neonatal",
3387,Isolated anterior cervical hypertrichosis,Disease,Disorder,,0010887,L68.2,600457,C1838123,C538390,,8438,Isolated anterior cervical hypertrichosis,Childhood,"Autosomal dominant, Autosomal recessive"
3388,Neural tube defect,Category,Group of disorders,,0018075,,,C0027794,D009436,10052046,,,,
275938,Hemolytic disease due to fetomaternal alloimmunization,Category,Group of disorders,,,,,,,,,,,
275837,Pulmonary hypertension owing to lung disease and/or hypoxia,Clinical group,Group of disorders,,0017157,,,C3698136,,,,,,
1723,Mosaic trisomy 2 syndrome,Malformation syndrome,Disorder,LD40.Y,0015763,Q92.1,,C4707010,,,5331,Mosaic trisomy 2 syndrome,"Antenatal, Neonatal",
275828,Pulmonary arterial hypertension associated with chronic hemolytic anemia,Clinical group,Group of disorders,,,,,C3698315,,,,Pulmonary arterial hypertension associated with chronic hemolytic anemia,All ages,"Multigenic/multifactorial, Not applicable"
1724,Mosaic trisomy 20 syndrome,Malformation syndrome,Disorder,LD40.Y,0015764,Q92.1,,C0265479,C535372,,,Mosaic trisomy 20 syndrome,"Antenatal, Neonatal",
275853,Syndrome with pulmonary hypertension as a major feature,Category,Group of disorders,,,,,C5680755,,,,,,
1747,Mosaic trisomy 7 syndrome,Malformation syndrome,Disorder,LD40.Y,0015771,Q92.1,,C2931631,C537822,,5354,Mosaic trisomy 7 syndrome,"Antenatal, Neonatal",
275844,Pulmonary hypertension with unclear multifactorial mechanism,Clinical group,Group of disorders,,,,,C4509216,,,,,,
271841,Genetic cardiac tumor,Category,Group of disorders,,,,,C5680756,,,,,,
3333,"Connective tissue dysplasia, Spellacy type",Disease,Disorder,,,,,,,,,,,
271832,Genetic soft tissue tumor,Category,Group of disorders,,,,,C5679760,,,,,,
3332,Hypoplastic tibiae-postaxial polydactyly syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
271835,Genetic digestive tract tumor,Category,Group of disorders,,,,,C5680757,,,,,,
3329,Tibial aplasia-ectrodactyly syndrome,Malformation syndrome,Disorder,LD26.0,0018050,Q73.8,612576,C4551989,C536425,,1369,Tibial aplasia-ectrodactyly syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
3328,Absent tibia-polydactyly-arachnoid cyst syndrome,Malformation syndrome,Disorder,,0010981,Q87.5,601027,C4518567,C536918,,5210,Absent tibia-polydactyly-arachnoid cyst syndrome,"Infancy, Neonatal",Unknown
3327,Thyrocerebrorenal syndrome,Malformation syndrome,Disorder,GB90.Y,0010128,N15.8,274240,C4518579,,,1646,Thyrocerebrorenal syndrome,Childhood,Autosomal recessive
3326,Thymic-renal-anal-lung dysplasia,Malformation syndrome,Disorder,,0010129,Q87.8,274265,C1848812,C536907,,5202,Thymic-renal-anal-lung dysplasia,"Antenatal, Neonatal",Autosomal recessive
3323,Braddock-Carey syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
3322,Hoyeraal-Hreidarsson syndrome,Disease,Disorder,3A70.0,0018045,Q82.8,616553,C1846142,C536068,,346,Hoyeraal-Hreidarsson syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
3317,Thoracolaryngopelvic dysplasia,Malformation syndrome,Disorder,LD24.BY,0008551,Q77.2,187770,C1861197,C536517,,,Thoracolaryngopelvic dysplasia,"Infancy, Neonatal",Autosomal dominant
3316,Thomas syndrome,Malformation syndrome,Disorder,8A00.1Y,0018043,Q87.8,,C2931225,C536514,,5175,Thomas syndrome,"Antenatal, Neonatal",Autosomal recessive
3314,"Thiemann disease, familial form",Disease,Disorder,FB82.1,0008142,M93.2,165700,C0264081,C537144,,4131,"Thiemann disease, familial form",Adolescent,Not applicable
3313,OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome,Disease,Disorder,,,,,,,,,,,
3355,Trichoodontoonychial dysplasia,Malformation syndrome,Disorder,LD27.0Y,0010153,Q82.4,275450,C3502453,C564760,,5267,Trichoodontoonychial dysplasia,"Infancy, Neonatal",Autosomal recessive
275555,Preeclampsia,Disease,Disorder,JA24,0005081,O14.1,614595,C0032914,D011225,10036485,,Preeclampsia,Adult,Not applicable
275543,L1 syndrome,Malformation syndrome,Disorder,LD90.Y,0017140,Q04.8,307000,C5779710,,,12524,L1 syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
3353,Trichodermodysplasia-dental alterations syndrome,Malformation syndrome,Disorder,LD27.0Y,0018061,Q82.4,,C2931485,C537402,,4369,Trichodermodysplasia-dental alterations syndrome,Neonatal,
275534,OBSOLETE: Myostatin-related muscle hypertrophy,Disease,Disorder,,,,,,,,,,,
3354,OBSOLETE: Tricho-oculo-dermo-vertebral syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
275523,Dianzani autoimmune lymphoproliferative disease,Disease,Disorder,,0011524,D47.9,605233,C2931071,C535950,,9797,Dianzani autoimmune lymphoproliferative disease,All ages,Unknown
3351,Trichodental syndrome,Malformation syndrome,Disorder,LD27.0Y,0011083,Q82.4,601453,C0406724,C536551,,265,Trichodental syndrome,Childhood,Autosomal dominant
275517,Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency,Disease,Disorder,4A01.22,0011804,D47.9,607271,C1846545,,,9796,Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency,Childhood,Autosomal recessive
3352,Tricho-dento-osseous syndrome,Malformation syndrome,Disorder,LD27.0Y,0008592,Q82.4,190320,C0265333,C536549,,7799,Tricho-dento-osseous syndrome,Childhood,Autosomal dominant
3349,Treft-Sanborn-Carey syndrome,Disease,Disorder,,,,,C2931235,C536544,,,,,
3350,Tremor-nystagmus-duodenal ulcer syndrome,Disease,Disorder,,0008591,G25.0,190310,C1860860,C536406,,,Tremor-nystagmus-duodenal ulcer syndrome,Neonatal,
3344,Weismann-Netter syndrome,Malformation syndrome,Disorder,LD24.C,0007209,Q77.8,112350,C1862172,C537082,,5232,Weismann-Netter syndrome,Neonatal,
3347,Mounier-Kühn syndrome,Clinical syndrome,Disorder,CA27.1,0010148,J98.0,275300,C0040587,D014137,10044316,3793,Mounier-Kühn syndrome,All ages,Not applicable
3341,Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,Malformation syndrome,Disorder,,0010748,Q87.8,314300,C4749808,C536970,,5230,Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,"Infancy, Neonatal",X-linked dominant
271870,Rare genetic systemic or rheumatologic disease,Category,Group of disorders,,,,,C5680758,,,,,,
3342,Arterial tortuosity syndrome,Malformation syndrome,Disorder,LD28.Y,0008818,Q27.8,208050,C1859726,C565942,10080250,774,Arterial tortuosity syndrome,"Childhood, Infancy",Autosomal recessive
3339,Oculoectodermal syndrome,Malformation syndrome,Disorder,LD27.0Y,0010854,Q82.4,600268,C1838329,C563969,,10366,Oculoectodermal syndrome,"Infancy, Neonatal",Not applicable
271861,Hereditary ATTR amyloidosis,Disease,Disorder,5D00.20,7100,E85.1,105210,C5679761,,,,Hereditary ATTR amyloidosis,,Autosomal dominant
3340,OBSOLETE: Torres-Aybar syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
271853,Genetic cardiac anomaly,Category,Group of disorders,,,,,C5680759,,,,,,
3336,TomÚ-Brunet-Fardeau syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
271847,Genetic neuroendocrine tumor,Category,Group of disorders,,,,,C5680760,,,,,,
3338,Toriello-Carey syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009021,Q87.8,217980,C0796184,C563127,,5225,Toriello-Carey syndrome,"Infancy, Neonatal",Autosomal recessive
271844,Genetic urogenital tumor,Category,Group of disorders,,,,,C5680761,,,,,,
3469,XK aprosencephaly syndrome,Malformation syndrome,Disorder,LD20.3,0008811,Q04.3,207770,C0795952,C536767,,424,XK aprosencephaly syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
269567,Genetic syndrome with a cerebellar malformation as a major feature,Category,Group of disorders,,,,,C5680762,,,,,,
269570,Genetic syndrome with a Dandy-Walker malformation as a major feature,Category,Group of disorders,,,,,C5680763,,,,,,
3472,Yunis-Varon syndrome,Malformation syndrome,Disorder,LD24.23,0008995,Q87.8,216340,C1857663,C536719,,331,Yunis-Varon syndrome,"Antenatal, Neonatal",Autosomal recessive
269573,Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature,Category,Group of disorders,,,,,C5680764,,,,,,
3471,Young syndrome,Disease,Disorder,CB40.1,0010220,N46,279000,C0340037,C536718,10063689,341,Young syndrome,Adult,Unknown
3319,Congenital amegakaryocytic thrombocytopenia,Disease,Disorder,3B64.01,0011469,D61.0,604498,C1327915,C535982,,640,Congenital amegakaryocytic thrombocytopenia,Neonatal,Autosomal recessive
3473,Zimmermann-Laband syndrome,Malformation syndrome,Disorder,LD2F.1Y,0000200,Q87.8,618729,C0796013,C536725,10081859,385,Zimmermann-Laband syndrome,Neonatal,Autosomal recessive
3459,Wilson-Turner syndrome,Malformation syndrome,Disorder,LD29,0010665,Q87.8,309585,C1839736,C536708,,5579,Wilson-Turner syndrome,Childhood,"X-linked dominant, X-linked recessive"
269531,Other syndrome with a central nervous system malformation as a major feature,Category,Group of disorders,,,,,C5680765,,,,,,
269546,Syndrome with a Dandy-Walker malformation as a major feature,Category,Group of disorders,,,,,C5680766,,,,,,
3460,Torg-Winchester syndrome,Clinical subtype,Subtype of disorder,,,,,C1850155,,10078901,,,,
269550,Genetic non-syndromic central nervous system malformation,Category,Group of disorders,,,,,C5680767,,,,,,
3464,Woodhouse-Sakati syndrome,Disease,Disorder,5A61.0,0009419,Q87.5,241080,C0342286,C536742,10082379,5592,Woodhouse-Sakati syndrome,"Adolescent, Childhood",Autosomal recessive
269553,Genetic cerebral malformation,Category,Group of disorders,,,,,C5679762,,,,,,
269557,Genetic posterior fossa malformation,Category,Group of disorders,,,,,C5680768,,,,,,
3466,WT limb-blood syndrome,Disease,Disorder,3A70.0,0008688,D61.0,194350,C1327917,C536751,,39,WT limb-blood syndrome,Childhood,Autosomal dominant
269560,Genetic cerebellar malformation,Category,Group of disorders,,,,,C5680769,,,,,,
3465,Worster-Drought syndrome,Disease,Disorder,8D23,0008503,G80.8,185480,C0796204,C536747,,5598,Worster-Drought syndrome,Childhood,"Autosomal dominant, Not applicable"
269564,Genetic syndrome with a central nervous system malformation as a major feature,Category,Group of disorders,,,,,C5679763,,,,,,
2749,Oromandibular-limb hypogenesis syndrome,Clinical group,Group of disorders,,0017139,,,C5679764,,,4116,Oromandibular-limb hypogenesis syndrome,"Infancy, Neonatal",
2995,Baraitser-Winter cerebrofrontofacial syndrome,Malformation syndrome,Disorder,,0017579,Q87.0,614583,C5680770,,,5279,Baraitser-Winter cerebrofrontofacial syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
3013,Radiculomegaly of canine teeth- congenital cataract,Malformation syndrome,Disorder,,,,,,,,,,,
3200,Arthrogryposis-ectodermal dysplasia syndrome,Malformation syndrome,Disorder,,0044406,Q68.8,601701,C5191837,,,5029,Arthrogryposis-ectodermal dysplasia syndrome,"Infancy, Neonatal",Unknown
1570,Symbrachydactyly of hands and feet,Malformation syndrome,Disorder,LB75.2,0015516,Q73.8,,C2931719,C538062,,1680,Symbrachydactyly of hands and feet,"Antenatal, Neonatal",
3243,Sweet syndrome,Disease,Disorder,EB20,0011959,L98.2,608068,C0085077,D016463,10000748,521,Sweet syndrome,Adult,Multigenic/multifactorial
1827,Acromelic frontonasal dysplasia,Malformation syndrome,Disorder,LD25.3,0011359,Q75.8,603671,C0796182,C535657,,5539,Acromelic frontonasal dysplasia,"Antenatal, Neonatal",Autosomal dominant
2352,Kozlowski-Brown-Hardwick syndrome,Disease,Disorder,,,,,C2931511,C537506,,,,,
2076,X-linked intellectual disability-epilepsy syndrome,Clinical group,Group of disorders,,0016160,,300607,C5680771,,,,X-linked intellectual disability-epilepsy syndrome,Childhood,"X-linked dominant, X-linked recessive"
268980,Isolated focal cortical dysplasia type Ib,Histopathological subtype,Subtype of disorder,LA05.51,0017097,Q04.8,,C5679765,,,,,,
268987,Isolated focal cortical dysplasia type Ic,Histopathological subtype,Subtype of disorder,LA05.51,0017098,Q04.8,,C5679766,,,,,,
3424,Velo-facial-skeletal syndrome,Malformation syndrome,Disorder,,0010925,Q87.0,600736,C1833380,C536536,,5469,Velo-facial-skeletal syndrome,Neonatal,
3423,Vasquez-Hurst-Sotos syndrome,Malformation syndrome,Disorder,,,,,C2931231,C536533,,,,,
268973,Isolated focal cortical dysplasia type Ia,Histopathological subtype,Subtype of disorder,LA05.51,0017096,Q04.8,,C5679767,,,,Isolated focal cortical dysplasia type Ia,,Not applicable
269008,Isolated focal cortical dysplasia type IIb,Histopathological subtype,Subtype of disorder,LA05.51,0017102,Q04.8,607341,C5679768,,,,Isolated focal cortical dysplasia type IIb,,Not applicable
3433,Microcephaly-brachydactyly-kyphoscoliosis syndrome,Malformation syndrome,Disorder,,0018091,Q87.8,,C2931177,C536349,,5490,Microcephaly-brachydactyly-kyphoscoliosis syndrome,"Infancy, Neonatal",Autosomal recessive
269190,Encephaloclastic disorder,Clinical group,Group of disorders,LA05.6,0017103,,,C5680772,,,,,,
268994,Isolated focal cortical dysplasia type II,Clinical subtype,Subtype of disorder,LA05.51,0011818,Q04.8,607341,C5679769,,,10190,,,
3429,Verloove Vanhorick-Brubakk syndrome,Malformation syndrome,Disorder,,0008991,Q87.8,215850,C1859082,C536541,,5482,Verloove Vanhorick-Brubakk syndrome,Neonatal,
269001,Isolated focal cortical dysplasia type IIa,Histopathological subtype,Subtype of disorder,LA05.51,0017101,Q04.8,607341,C5679770,,,,Isolated focal cortical dysplasia type IIa,,Not applicable
2460,Van den Ende-Gupta syndrome,Malformation syndrome,Disorder,LD26.41,0010959,Q87.0,600920,C1833136,C535909,,3382,Van den Ende-Gupta syndrome,"Infancy, Neonatal",Autosomal recessive
268940,Bilateral polymicrogyria,Morphological anomaly,Disorder,LA05.50,0017091,Q04.3,616531,C4707565,,,,Bilateral polymicrogyria,"Infancy, Neonatal","Autosomal recessive, X-linked dominant"
268943,Unilateral polymicrogyria,Morphological anomaly,Disorder,LA05.50,0017092,Q04.3,,C4024960,,,,Unilateral polymicrogyria,"Infancy, Neonatal",
3416,Hyperostosis corticalis generalisata,Malformation syndrome,Disorder,LD24.1Y,0009395,M85.2,144750,C0432272,,,2833,Hyperostosis corticalis generalisata,"Adolescent, Childhood","Autosomal dominant, Autosomal recessive"
1244,NON RARE IN EUROPE: Bicuspid aortic valve,Morphological anomaly,Disorder,,,,,,,,,,,
268926,Midline cerebral malformation,Category,Group of disorders,,,,,C5679771,,,,,,
268936,Isolated arhinencephaly,Morphological anomaly,Disorder,LA05.4,968959,Q04.1,,C4749732,,,,Isolated arhinencephaly,"Infancy, Neonatal",
3421,Cerebroretinal vasculopathy,Disease,Disorder,,,,,,,,,,,
3419,OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome,Disease,Disorder,,,,,,,,,,,
268961,Isolated focal cortical dysplasia type I,Clinical subtype,Subtype of disorder,LA05.51,0017095,Q04.8,,C5679772,,,,,,
268947,Unilateral focal polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0017093,Q04.3,,C5680773,,,,Unilateral focal polymicrogyria,"Antenatal, Infancy, Neonatal",
3417,OBSOLETE: Van den Bosch syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
268950,Cerebral cortical dysplasia,Clinical group,Group of disorders,LA05.51,0017094,,,C0431380,,,,,,
3450,Weissenbacher-Zweymuller syndrome,Malformation syndrome,Disorder,,,,,C1848488,,,4351,,,
269229,Pontine tegmental cap dysplasia,Morphological anomaly,Disorder,,0013858,Q04.8,614688,C3541340,,,10919,Pontine tegmental cap dysplasia,"Infancy, Neonatal",Not applicable
3453,Autoimmune polyendocrinopathy type 1,Disease,Disorder,5B00,0009411,E31.0,240300,C0085859,C538275,10036072,8466,Autoimmune polyendocrinopathy type 1,"Adolescent, Childhood",Autosomal recessive
269224,Global cerebellar malformation,Category,Group of disorders,,,,,C5679773,,,,,,
3448,Weaver-Williams syndrome,Malformation syndrome,Disorder,,0018095,Q87.8,,C0796198,,,5545,Weaver-Williams syndrome,"Infancy, Neonatal",Autosomal recessive
269221,Isolated bilateral hemispheric cerebellar hypoplasia,Morphological anomaly,Disorder,LA06.1,0017113,Q04.3,,C4749791,,,,Isolated bilateral hemispheric cerebellar hypoplasia,"Infancy, Neonatal",
3449,Weill-Marchesani syndrome,Malformation syndrome,Disorder,9C61.42,0018096,Q87.0,613195,C0265313,D056846,10064963,4936,Weill-Marchesani syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
269218,Isolated unilateral hemispheric cerebellar hypoplasia,Morphological anomaly,Disorder,LA06.1,0017112,Q04.3,,C4707885,,,,Isolated unilateral hemispheric cerebellar hypoplasia,"Infancy, Neonatal",
3456,Wildervanck syndrome,Malformation syndrome,Disorder,,0010759,Q87.8,314600,C0265239,,10069402,5569,Wildervanck syndrome,"Infancy, Neonatal",
269528,Syndrome with microcephaly as a major feature,Category,Group of disorders,LD20.2,,,,C5680774,,,,,,
269523,Syndrome with a cerebellar malformation as a major feature,Category,Group of disorders,,,,,C5680775,,,,,,
269510,Congenital non-communicating hydrocephalus,Clinical subtype,Subtype of disorder,8D64.1,0017117,Q03.8,236600,C4546092,,,,Congenital non-communicating hydrocephalus,,Autosomal recessive
3454,Wieacker-Wolff syndrome,Malformation syndrome,Disorder,,0010758,Q87.8,301041,C0796200,C536703,,7890,Wieacker-Wolff syndrome,Neonatal,"Not applicable, X-linked recessive"
3455,Wiedemann-Rautenstrauch syndrome,Malformation syndrome,Disorder,LD2B,0009910,E34.8,264090,C0406586,C536423,,330,Wiedemann-Rautenstrauch syndrome,"Antenatal, Neonatal",Autosomal recessive
269505,Congenital communicating hydrocephalus,Clinical subtype,Subtype of disorder,,0017116,Q03.8,615219,C5679774,,,,Congenital communicating hydrocephalus,,Autosomal recessive
269203,Isolated cerebellar vermis agenesis,Morphological anomaly,Disorder,,0017107,Q04.3,,C5680776,,,,Isolated cerebellar vermis agenesis,"Infancy, Neonatal",
269200,OBSOLETE: Retrocerebellar cyst,Morphological anomaly,Disorder,,,,,,,,,,,
3438,Biliary tract malformation-renal failure syndrome,Disease,Disorder,,,,,C0400972,,,,,,
269197,Glioependymal/ependymal cyst,Morphological anomaly,Disorder,LA05.7,0017105,G93.0,,C0338599,,,,Glioependymal/ependymal cyst,"Infancy, Neonatal",
3434,MMEP syndrome,Malformation syndrome,Disorder,LD21.0,0011045,Q87.8,601349,C1832440,C537686,,3693,MMEP syndrome,"Antenatal, Neonatal",
269194,Central nervous system cystic malformation,Category,Group of disorders,,,,,C5680777,,,,,,
269215,Isolated Dandy-Walker malformation without hydrocephalus,Clinical subtype,Subtype of disorder,LA06.0,0017111,Q03.1,,C5680778,,,,Isolated Dandy-Walker malformation without hydrocephalus,,Multigenic/multifactorial
3446,Weaver-like syndrome,Malformation syndrome,Disorder,,,,,C0220765,,,,,,
269212,Isolated Dandy-Walker malformation with hydrocephalus,Clinical subtype,Subtype of disorder,LA06.0,0017110,Q03.1,,C5680779,,,,,,
269209,Isolated partial cerebellar vermis agenesis,Clinical subtype,Subtype of disorder,,0017109,Q04.3,,C5680780,,,,,,
269206,Isolated total cerebellar vermis agenesis,Clinical subtype,Subtype of disorder,,0017108,Q04.3,,C5680781,,,,,,
1856,Spondyloperipheral dysplasia-short ulna syndrome,Disease,Disorder,LD24.3,,Q77.7,271700,C4706658,C535799,,4994,Spondyloperipheral dysplasia-short ulna syndrome,"Infancy, Neonatal",Autosomal dominant
280315,Autoimmune pancreatitis type 2,Disease,Disorder,DC33,0017228,K86.1,,C5197785,,,,Autoimmune pancreatitis type 2,Adult,Not applicable
3181,Sprengel deformity,Morphological anomaly,Disorder,LB72.1,0008482,Q74.0,184400,C0152438,C535802,10010455,7693,Sprengel deformity,"Antenatal, Infancy, Neonatal",
280302,Autoimmune pancreatitis type 1,Clinical subtype,Subtype of disorder,DC33,0017227,K86.1,,C4302243,,,,Autoimmune pancreatitis type 1,Adult,Not applicable
280333,Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,Disease,Disorder,,0013440,G71.0,613818,C4511963,,,,Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,Childhood,Autosomal recessive
280325,Distal deletion 12p syndrome,Malformation syndrome,Disorder,,0017229,Q93.5,,C4749581,,,,Distal deletion 12p syndrome,"Infancy, Neonatal",
280293,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,Clinical subtype,Subtype of disorder,LD90.2,0009843,E75.2,260600,C5396702,,,4266,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,"Infancy, Neonatal",Autosomal recessive
280288,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,Clinical subtype,Subtype of disorder,LD90.2,0012824,E75.2,612233,C2677109,C567390,,,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,"Infancy, Neonatal",Autosomal recessive
280369,Rare pediatric vasculitis,Category,Group of disorders,,,,,C5680782,,,,,,
3194,Corneodermatoosseous syndrome,Malformation syndrome,Disorder,LD27.0Y,0007383,H18.5,122440,C1852542,C536444,,1531,Corneodermatoosseous syndrome,"Infancy, Neonatal",Autosomal dominant
3195,Sternal malformation-vascular dysplasia syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
280365,Autosomal semi-dominant severe lipodystrophic laminopathy,Disease,Disorder,5A44,0017230,E88.1,,C5680783,,,,Autosomal semi-dominant severe lipodystrophic laminopathy,Adult,Semi-dominant
280379,Erythropoietic uroporphyria associated with myeloid malignancy,Disease,Disorder,,0017231,E80.2,,C5191004,,,10948,Erythropoietic uroporphyria associated with myeloid malignancy,Adult,Autosomal recessive
3197,Hereditary hyperekplexia,Disease,Disorder,LD90.Y,0021022,G25.8,614619,C1835614,C538136,,3129,Hereditary hyperekplexia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
3199,Stimmler syndrome,Malformation syndrome,Disorder,,0008743,Q87.1,202900,C1859965,C565968,,5026,Stimmler syndrome,"Infancy, Neonatal",Autosomal recessive
280373,Rare pediatric systemic disease,Category,Group of disorders,,,,,C5680784,,,,,,
3184,Steatocystoma multiplex-natal teeth syndrome,Malformation syndrome,Disorder,,0008486,L72.2,184510,C4304819,C537487,,5004,Steatocystoma multiplex-natal teeth syndrome,"Infancy, Neonatal",Autosomal dominant
280342,Rare systemic or rheumatological disease of childhood,Category,Group of disorders,,,,,C5680785,,,,,,
3186,Holoprosencephaly-radial heart renal anomalies syndrome,Malformation syndrome,Disorder,,0008488,Q87.8,184705,C1866649,C566655,,2727,Holoprosencephaly-radial heart renal anomalies syndrome,"Antenatal, Neonatal",
3191,Subaortic stenosis-short stature syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010082,Q87.1,271960,C0795947,C537749,,405,Subaortic stenosis-short stature syndrome,Neonatal,
3193,Supravalvular aortic stenosis,Morphological anomaly,Disorder,LA8A.3,0008504,Q25.3,185500,C0003499,D021921,10042598,743,Supravalvular aortic stenosis,All ages,Autosomal dominant
280356,PLIN1-related familial partial lipodystrophy,Disease,Disorder,5A44,0013478,E88.1,613877,C5191005,,,,PLIN1-related familial partial lipodystrophy,Childhood,Autosomal dominant
3214,"Deaf blind hypopigmentation syndrome, Yemenite type",Malformation syndrome,Disorder,LD2H.Y,0011133,Q13.8,601706,C1866425,C536771,,5535,"Deaf blind hypopigmentation syndrome, Yemenite type","Infancy, Neonatal",Autosomal recessive
280400,Inherited human prion disease,Category,Group of disorders,,,,,C5679775,,,,,,
280403,Familial omphalocele syndrome with facial dysmorphism,Malformation syndrome,Disorder,,0017235,Q79.2,,C4749579,,,,Familial omphalocele syndrome with facial dysmorphism,"Infancy, Neonatal",Autosomal dominant
3213,Deafness-opticoacoustic nerve atrophy-dementia syndrome,Disease,Disorder,,,,,C1839564,,,,,,
280406,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,Disease,Disorder,GB41,0013836,N04.8,614650,C5191003,,,,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,"Infancy, Neonatal",Autosomal recessive
3215,OBSOLETE: Deafness-white hair-contractures-papillomas syndrome,Disease,Disorder,,,,,,,,,,,
3210,Summitt syndrome,Malformation syndrome,Disorder,,0010090,Q82.0,272350,C1802405,C538142,,127,,,
3201,Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome,Malformation syndrome,Disorder,,0008645,Q87.8,192445,C4304408,,,5472,Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome,"Infancy, Neonatal",Unknown
280384,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,Disease,Disorder,,0017232,Q68.8,,C4749580,,,,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,"Infancy, Neonatal",Autosomal recessive
3212,Autosomal dominant optic atrophy and congenital deafness,Disease,Disorder,,,,125250,C2931440,,,,,,
280397,Familial Alzheimer-like prion disease,Disease,Disorder,8E02.3,0017233,A81.8,,C4303482,,,,Familial Alzheimer-like prion disease,Adult,Autosomal dominant
280576,Nestor-Guillermo progeria syndrome,Malformation syndrome,Disorder,LD2B,0013523,E34.8,614008,C3151446,,,11008,Nestor-Guillermo progeria syndrome,Childhood,Autosomal recessive
3220,Deafness-enamel hypoplasia-nail defects syndrome,Malformation syndrome,Disorder,LD27.0Y,0100229,Q82.4,616617,C1856186,C535994,,1687,Deafness-enamel hypoplasia-nail defects syndrome,Childhood,Autosomal recessive
3219,Fountain syndrome,Malformation syndrome,Disorder,LD2H.Y,0009241,Q87.8,229120,C0795944,C537270,10083946,64,Fountain syndrome,"Infancy, Neonatal",Autosomal recessive
3222,Phosphoribosylpyrophosphate synthetase superactivity,Disease,Disorder,5C55.0Y,0010395,E79.8,300661,C1970827,C567064,,4337,Phosphoribosylpyrophosphate synthetase superactivity,"Adolescent, Adult, Childhood, Infancy, Neonatal",X-linked recessive
280586,"Chondrodysplasia with joint dislocations, gPAPP type",Malformation syndrome,Disorder,LD24.E,0013561,M85.0,614078,C3279757,,,11009,"Chondrodysplasia with joint dislocations, gPAPP type","Infancy, Neonatal",Autosomal recessive
3221,Generalized resistance to thyroid hormone,Disease,Disorder,,,,,,,,301,,,
3217,Deafness-small bowel diverticulosis-neuropathy syndrome,Disease,Disorder,LD2H.Y,0009086,G60.8,221400,C1857338,C537305,,2568,Deafness-small bowel diverticulosis-neuropathy syndrome,Childhood,
280553,Fatal infantile hypertonic myofibrillar myopathy,Disease,Disorder,8C76,0013472,G71.2,613869,C5190691,,,,Fatal infantile hypertonic myofibrillar myopathy,"Infancy, Neonatal",Autosomal recessive
280558,Warsaw breakage syndrome,Malformation syndrome,Disorder,LD2F.1Y,0013252,Q87.8,613398,C3150658,,,13708,Warsaw breakage syndrome,"Infancy, Neonatal",Autosomal recessive
3216,Conductive deafness-malformed external ear syndrome,Malformation syndrome,Disorder,,0009083,Q17.8,221300,C2931454,C537239,,1460,Conductive deafness-malformed external ear syndrome,Neonatal,Unknown
3218,Deafness-epiphyseal dysplasia-short stature syndrome,Malformation syndrome,Disorder,LD2H.Y,0011047,Q87.5,601351,C1832438,C535928,,1688,Deafness-epiphyseal dysplasia-short stature syndrome,Neonatal,
280569,OBSOLETE: Rapidly progressive glomerulonephritis,Disease,Disorder,,,,,,,,,,,
280065,Calciphylaxis cutis,Clinical subtype,Subtype of disorder,EB90.42,0017216,E83.5,,C4274083,,,,,,
647,Nijmegen breakage syndrome,Malformation syndrome,Disorder,4A01.31,0009623,Q87.8,251260,C0398791,D049932,10067857,3904,Nijmegen breakage syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
280062,Calciphylaxis,Disease,Disorder,EB90.42,0017215,E83.5,,C0006666,D002115,10051714,5980,Calciphylaxis,Adult,Not applicable
279947,Postorgasmic illness syndrome,Clinical syndrome,Disorder,HA02.Y,0017213,F52.3,,C4749582,,,10809,Postorgasmic illness syndrome,"Adolescent, Adult",Not applicable
3153,NON RARE IN EUROPE: Adolescent idiopathic scoliosis,Disease,Disorder,,,,,,,,,,,
279943,Hereditary neutrophilia,Disease,Disorder,,0008092,D72.8,162830,C0543669,C563010,,,Hereditary neutrophilia,All ages,Autosomal dominant
279934,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",Disease,Disorder,,0009636,E88.8,251880,C5191055,,,13644,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency","Childhood, Infancy, Neonatal",Autosomal recessive
3152,Sclerosteosis,Malformation syndrome,Disorder,LD24.1Y,0017838,M85.2,614305,C0265301,C537525,,4771,Sclerosteosis,"Childhood, Neonatal",Autosomal recessive
279928,Paraneoplastic uveitis,Disease,Disorder,9B65.0,0017212,H57.8,,C5680786,,,,Paraneoplastic uveitis,Adult,
279925,Infectious panuveitis,Disease,Disorder,9C20.1,0017211,H44.1,,C5230354,,,,Infectious panuveitis,All ages,
279922,Infectious anterior uveitis,Disease,Disorder,9A96.2,0017210,H20.9,,C0154911,,,,Infectious anterior uveitis,All ages,
280142,Combined immunodeficiency due to LCK deficiency,Disease,Disorder,4A01.10,0014334,D81.1,615758,C5191006,,,,Combined immunodeficiency due to LCK deficiency,"Infancy, Neonatal",Autosomal recessive
3164,"Omphalocele syndrome, Shprintzen-Goldberg type",Malformation syndrome,Disorder,LD2F.1Y,0008425,Q79.2,182210,C1866958,C537329,,9850,"Omphalocele syndrome, Shprintzen-Goldberg type",Neonatal,
3168,Sillence syndrome,Malformation syndrome,Disorder,,0007227,Q74.8,113450,C1862092,C537338,,4869,Sillence syndrome,"Infancy, Neonatal",Autosomal dominant
280133,Complement component 3 deficiency,Disease,Disorder,4A00.1Y,0013417,D84.1,613779,C1332655,,,,Complement component 3 deficiency,Childhood,Autosomal recessive
3163,SHORT syndrome,Malformation syndrome,Disorder,LD27.6Z,0010026,Q87.1,269880,C0878684,C537327,10090250,7633,SHORT syndrome,Neonatal,Autosomal dominant
280110,NON RARE IN EUROPE: Paget disease of bone,Disease,Disorder,,,,,,,,,,,
1479,Atrial septal defect-atrioventricular conduction defects syndrome,Malformation syndrome,Disorder,LA8E.1,0007173,Q21.1,108900,C4510872,,,,Atrial septal defect-atrioventricular conduction defects syndrome,No data available,Autosomal dominant
3156,Senior-Loken syndrome,Disease,Disorder,9B70,0017842,Q61.5,616629,C0403553,C537580,10084074,322,Senior-Loken syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
280071,ALG11-CDG,Disease,Disorder,5C54.0,0013349,E77.8,613661,C3150913,,,12396,ALG11-CDG,"Infancy, Neonatal",Autosomal recessive
280068,Visceral calciphylaxis,Clinical subtype,Subtype of disorder,EB90.42,0017217,E83.5,,C4749793,,,,,,
3157,Septo-optic dysplasia spectrum,Malformation syndrome,Disorder,5A61.0,0008428,Q04.4,182230,C0338503,D025962,10067159,7627,Septo-optic dysplasia spectrum,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable"
3180,Spondylocamptodactyly syndrome,Malformation syndrome,Disorder,LD24.5Y,0010801,Q87.5,600000,C4274762,C535779,,4972,Spondylocamptodactyly syndrome,Neonatal,
280210,"Pelizaeus-Merzbacher disease, connatal form",Clinical subtype,Subtype of disorder,8A44.0,0017221,E75.2,312080,C5679776,,,,"Pelizaeus-Merzbacher disease, connatal form","Infancy, Neonatal",X-linked recessive
280219,"Pelizaeus-Merzbacher disease, classic form",Clinical subtype,Subtype of disorder,8A44.0,0017222,E75.2,312080,C0751916,,,,"Pelizaeus-Merzbacher disease, classic form","Infancy, Neonatal",X-linked recessive
280200,Microform holoprosencephaly,Malformation syndrome,Disorder,LA05.2,0017219,Q04.2,610829,C5393309,,,,Microform holoprosencephaly,"Childhood, Infancy, Neonatal",Multigenic/multifactorial
3177,Spinocerebellar degeneration-corneal dystrophy syndrome,Malformation syndrome,Disorder,9A70.Y,0010063,G11.1,271310,C1849087,C535472,,1525,Spinocerebellar degeneration-corneal dystrophy syndrome,"Childhood, Infancy",Autosomal recessive
280205,Laryngotracheoesophageal cleft type 0,Clinical subtype,Subtype of disorder,LA72,0017220,Q32.1,,C5438977,,,,,,
3175,X-linked spasticity-intellectual disability-epilepsy syndrome,Disease,Disorder,,0017856,G25.3,308350,C4510949,,,,X-linked spasticity-intellectual disability-epilepsy syndrome,"Infancy, Neonatal",X-linked recessive
280195,Septopreoptic holoprosencephaly,Clinical subtype,Subtype of disorder,LA05.2,,Q04.2,609637,C5679777,,,,Septopreoptic holoprosencephaly,"Infancy, Neonatal",Multigenic/multifactorial
3172,Eyebrow duplication-syndactyly syndrome,Malformation syndrome,Disorder,,0009200,Q87.8,227210,C4518569,,,2216,Eyebrow duplication-syndactyly syndrome,"Infancy, Neonatal",Autosomal recessive
280183,Methylmalonic aciduria due to transcobalamin receptor defect,Biological anomaly,Disorder,,0013341,E71.1,613646,C4749905,,,,Methylmalonic aciduria due to transcobalamin receptor defect,"Infancy, Neonatal",Autosomal recessive
280282,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,Clinical subtype,Subtype of disorder,LD90.2,0012125,E75.2,608804,C1837355,C563855,,,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,"Infancy, Neonatal",Autosomal recessive
280270,Pelizaeus-Merzbacher-like disease,Disease,Disorder,LD90.2,0017226,E75.2,612233,C4274084,,,12300,Pelizaeus-Merzbacher-like disease,"Infancy, Neonatal",Autosomal recessive
252,OBSOLETE: Spondyloepimetaphyseal dysplasia,Category,Group of disorders,,,,,,,,,,,
280234,Null syndrome,Clinical subtype,Subtype of disorder,8A44.0,0017225,E75.2,312080,C5439441,,,,Null syndrome,Childhood,X-linked recessive
1855,Spondyloenchondrodysplasia,Malformation syndrome,Disorder,LD24.3,0011939,Q77.7,607944,C0432222,C535782,,4978,Spondyloenchondrodysplasia,Childhood,Autosomal recessive
280224,"Pelizaeus-Merzbacher disease, transitional form",Clinical subtype,Subtype of disorder,8A44.0,0017223,E75.2,312080,C0751917,,,,"Pelizaeus-Merzbacher disease, transitional form","Infancy, Neonatal",X-linked recessive
1797,Autosomal dominant spondylocostal dysostosis,Malformation syndrome,Disorder,LD24.H,0015826,Q76.4,122600,C4274761,,,,Autosomal dominant spondylocostal dysostosis,No data available,Autosomal dominant
280229,Pelizaeus-Merzbacher disease in female carriers,Clinical subtype,Subtype of disorder,8A44.0,0017224,E75.2,312080,C5438815,,,,Pelizaeus-Merzbacher disease in female carriers,Adult,X-linked recessive
276580,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,Disease,Disorder,,0017185,E16.1,601820,C4274081,,,,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,"Infancy, Neonatal",Autosomal dominant
3258,Cenani-Lenz syndrome,Malformation syndrome,Disorder,LB79.Y,0008931,Q78.4,212780,C1859309,C538150,,5084,Cenani-Lenz syndrome,"Infancy, Neonatal",Autosomal recessive
276575,Autosomal dominant hyperinsulinism due to SUR1 deficiency,Disease,Disorder,,0017184,E16.1,256450,C4274080,,,,Autosomal dominant hyperinsulinism due to SUR1 deficiency,"Infancy, Neonatal",Autosomal dominant
276598,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,Disease,Disorder,5A45,0017187,E16.1,256450,C5191059,,,,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,"Infancy, Neonatal",Autosomal recessive
3262,Dobrow syndrome,Malformation syndrome,Disorder,,0017980,Q87.8,,C5190737,,,5092,Dobrow syndrome,"Antenatal, Infancy, Neonatal",
276585,Diazoxide-resistant hyperinsulinism,Clinical group,Group of disorders,,0017186,,,C5679778,,,,,,
276608,Non-insulinoma pancreatogenous hypoglycemia syndrome,Disease,Disorder,5A4Y,0017189,E16.1,,C4274082,,,,Non-insulinoma pancreatogenous hypoglycemia syndrome,Adult,"Autosomal dominant, Not applicable"
3265,Isolated humero-radial synostosis,Morphological anomaly,Disorder,LB90.1,0007737,Q74.0,236400,C5925001,,,2748,Isolated humero-radial synostosis,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
276603,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,Disease,Disorder,5A45,0017188,E16.1,601820,C5191060,,,,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,"Infancy, Neonatal",Autosomal recessive
3266,Isolated humero-radio-ulnar synostosis,Morphological anomaly,Disorder,LB90.0,0017983,Q74.0,,C5925002,,,2749,Isolated humero-radio-ulnar synostosis,"Antenatal, Neonatal",Unknown
276624,OBSOLETE: Sporadic pheochromocytoma,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3267,OBSOLETE: Familial lambdoid synostosis,Morphological anomaly,Disorder,,,,,,,,,,,
276621,Sporadic pheochromocytoma/secreting paraganglioma,Disease,Disorder,5A75,0017190,C74.1,,C4707333,,,,Sporadic pheochromocytoma/secreting paraganglioma,"Adolescent, Adult, Childhood",Not applicable
3268,Radioulnar synostosis-microcephaly-scoliosis syndrome,Malformation syndrome,Disorder,,0011320,Q87.5,603438,C3150890,C566376,,394,Radioulnar synostosis-microcephaly-scoliosis syndrome,"Antenatal, Neonatal",Unknown
276630,Symptomatic form of Coffin-Lowry syndrome in female carriers,Malformation syndrome,Disorder,,0017193,Q87.0,300844,C5680787,,,,Symptomatic form of Coffin-Lowry syndrome in female carriers,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
3270,Radioulnar synostosis-developmental delay-hypotonia syndrome,Malformation syndrome,Disorder,,0009952,Q87.8,266255,C2931776,C538217,,1810,Radioulnar synostosis-developmental delay-hypotonia syndrome,Neonatal,Unknown
276627,OBSOLETE: Sporadic secreting paraganglioma,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3274,Granulomatous arthritis of childhood,Disease,Disorder,,,,,,,,,,,
3275,Spondylocarpotarsal synostosis,Malformation syndrome,Disorder,LD24.5Y,0010094,Q76.4,272460,C1848934,C535780,,4974,Spondylocarpotarsal synostosis,"Childhood, Infancy",Autosomal recessive
3284,OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndrome,Disease,Disorder,,,,,,,,,,,
425,Apolipoprotein A-I deficiency,Disease,Disorder,5C81.0,0100189,E78.6,604091,C0342898,,10065133,2872,Apolipoprotein A-I deficiency,All ages,Autosomal dominant
3289,NON RARE IN EUROPE: Taurodontism,Morphological anomaly,Disorder,,,,,,,,,,,
3291,Teebi-Shaltout syndrome,Malformation syndrome,Disorder,,0010101,Q82.4,272950,C1848912,C536950,,5125,Teebi-Shaltout syndrome,"Infancy, Neonatal",Autosomal recessive
3293,Telecanthus-hypertelorism-strabismus-pes cavus syndrome,Malformation syndrome,Disorder,,0017997,Q87.8,,C2931549,,,,Telecanthus-hypertelorism-strabismus-pes cavus syndrome,Neonatal,Unknown
3292,Tel Hashomer camptodactyly syndrome,Malformation syndrome,Disorder,,0008901,Q74.0,211960,C1859356,C536953,,5128,Tel Hashomer camptodactyly syndrome,"Infancy, Neonatal",Unknown
279882,Spasmus nutans,Clinical syndrome,Disorder,8A04.Y,0017201,F98.4,,C1527306,,10059593,,Spasmus nutans,Infancy,Unknown
3294,Extensor tendons of finger anomalies,Malformation syndrome,Disorder,,0008540,Q74.0,187390,C2931376,C536960,,2597,Extensor tendons of finger anomalies,Neonatal,
279888,Acute endophthalmitis,Clinical subtype,Subtype of disorder,9C20.2,0017202,H44.1,,C0154773,,10000730,,Acute endophthalmitis,All ages,Not applicable
279891,Chronic endophthalmitis,Clinical subtype,Subtype of disorder,9C21,0017203,H44.1,,C0154774,,10008864,,Chronic endophthalmitis,All ages,Not applicable
279894,Toxic maculopathy due to antimalarial drugs,Disease,Disorder,9B78.3Y,0017204,T37.2,,C4706522,,,,Toxic maculopathy due to antimalarial drugs,All ages,Not applicable
3301,Tetraamelia-multiple malformations syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010110,Q87.8,618021,C2931218,C536500,,386,Tetraamelia-multiple malformations syndrome,"Antenatal, Infancy, Neonatal","Autosomal recessive, X-linked recessive"
279897,Primary oculocerebral lymphoma,Disease,Disorder,2B33.5,0017205,C85.7,,C5679779,,,,Primary oculocerebral lymphoma,Adult,Not applicable
279904,OBSOLETE: Primary intraocular lymphoma,Disease,Disorder,2B33.5,0004351,C85.7,,C0281658,D064090,,,OBSOLETE: Primary intraocular lymphoma,Adult,Not applicable
279911,Primary organ-specific lymphoma,Category,Group of disorders,,0017207,,,C5680788,,,,,,
3304,Fallot complex-intellectual disability-growth delay syndrome,Malformation syndrome,Disorder,,0010999,Q87.8,601127,C1832735,C536608,,893,Fallot complex-intellectual disability-growth delay syndrome,"Infancy, Neonatal",Autosomal recessive
3312,Thalidomide embryopathy,Malformation syndrome,Disorder,LD2F.0Y,0018034,Q86.8,,C0432365,,10071249,2313,Thalidomide embryopathy,"Antenatal, Neonatal",Not applicable
279914,Intermediate uveitis,Disease,Disorder,9B66,0006806,H30.2,,C0042166,D015867,10022557,,Intermediate uveitis,Childhood,Not applicable
3311,OBSOLETE: Infantile symmetrical thalamic degeneration,Disease,Disorder,,,,,,,,,,,
279919,Infectious posterior uveitis,Disease,Disorder,9B65.1,0017209,H32.0,,C5230265,,,,Infectious posterior uveitis,All ages,
276198,Spinocerebellar ataxia type 36,Disease,Disorder,8A03.16,0013594,G11.8,614153,C3472711,,,,Spinocerebellar ataxia type 36,Adult,Autosomal dominant
3225,Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,Malformation syndrome,Disorder,LD2H.Y,0017921,E34.8,,C4274756,,,,Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,"Infancy, Neonatal",
276193,Spinocerebellar ataxia type 35,Disease,Disorder,8A03.16,0013485,G11.8,613908,C3888031,,,,Spinocerebellar ataxia type 35,"Adolescent, Adult",Autosomal dominant
3226,Deafness-lymphedema-leukemia syndrome,Malformation syndrome,Disorder,BD93.0,0013540,D46.7,614038,C3279664,,,13030,,,
276183,Spinocerebellar ataxia type 32,Disease,Disorder,8A03.16,0013486,G11.8,613909,C3151343,,,,Spinocerebellar ataxia type 32,Adult,Autosomal dominant
3224,Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,Malformation syndrome,Disorder,LD2H.Y,0017920,Q87.8,,C2931654,C537887,,4303,Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,"Infancy, Neonatal",
276174,Idiopathic recurrent stupor,Disease,Disorder,8E2Y,0017170,G93.8,,C4706562,,,,Idiopathic recurrent stupor,Adult,Not applicable
276238,Machado-Joseph disease type 1,Clinical subtype,Subtype of disorder,8A03.16,0017174,G11.8,109150,C0751668,,,,Machado-Joseph disease type 1,"Adult, Childhood",Autosomal dominant
3229,OBSOLETE: Deafness-peripheral neuropathy-arterial disease syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
276234,Non-syndromic male infertility due to sperm motility disorder,Disease,Disorder,GB04.Y,0017173,N46,614822,C0403811,,,,Non-syndromic male infertility due to sperm motility disorder,Adult,Autosomal recessive
276223,"Mucopolysaccharidosis type 6, slowly progressing",Clinical subtype,Subtype of disorder,5C56.33,0017172,E76.2,253200,C5679780,,,,"Mucopolysaccharidosis type 6, slowly progressing",,Autosomal recessive
3228,OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome,Disease,Disorder,,,,,,,,,,,
276212,"Mucopolysaccharidosis type 6, rapidly progressing",Clinical subtype,Subtype of disorder,5C56.33,0017171,E76.2,253200,C5679781,,,,"Mucopolysaccharidosis type 6, rapidly progressing",,Autosomal recessive
276252,OBSOLETE: Xeroderma pigmentosum complementation group B,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3230,Deafness-oligodontia syndrome,Malformation syndrome,Disorder,LD2H.Y,0009089,H90.3,221740,C1857333,C538049,,1698,Deafness-oligodontia syndrome,"Infancy, Neonatal",
276249,OBSOLETE: Xeroderma pigmentosum complementation group A,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3231,Deafness-onychodystrophy syndrome,Clinical group,Group of disorders,,,,220500,C4751208,,,,Deafness-onychodystrophy syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
276244,Machado-Joseph disease type 3,Clinical subtype,Subtype of disorder,8A03.16,0017176,G11.8,109150,C0751670,,,,Machado-Joseph disease type 3,Adult,Autosomal dominant
276241,Machado-Joseph disease type 2,Clinical subtype,Subtype of disorder,8A03.16,0017175,G11.8,109150,C0751669,,,,Machado-Joseph disease type 2,Adult,Autosomal dominant
3235,Progressive deafness with stapes fixation,Malformation syndrome,Disorder,LD2H.2,0011080,H74.3,601449,C1832354,C563316,,5170,Progressive deafness with stapes fixation,Childhood,Autosomal recessive
276264,OBSOLETE: Xeroderma pigmentosum complementation group F,Clinical subtype,Subtype of disorder,,,,,,,,,,,
276261,OBSOLETE: Xeroderma pigmentosum complementation group E,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3236,Conductive deafness-ptosis-skeletal anomalies syndrome,Malformation syndrome,Disorder,LD27.0Y,0009084,Q82.4,221320,C1857340,C535993,,305,Conductive deafness-ptosis-skeletal anomalies syndrome,No data available,
276258,OBSOLETE: Xeroderma pigmentosum complementation group D,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3232,Deafness-ear malformation-facial palsy syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007421,Q87.0,124490,C4274753,,,1684,Deafness-ear malformation-facial palsy syndrome,Neonatal,
276255,OBSOLETE: Xeroderma pigmentosum complementation group C,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3233,Cochleosaccular degeneration-cataract syndrome,Malformation syndrome,Disorder,LD2H.Y,0007346,H83.8,120040,C1861512,C536432,,9418,Cochleosaccular degeneration-cataract syndrome,Adult,
3241,Deafness-craniofacial syndrome,Malformation syndrome,Disorder,LD2H.Y,0007428,Q87.0,125230,C1852278,C565118,,1686,Deafness-craniofacial syndrome,Neonatal,
276280,Hemihyperplasia-multiple lipomatosis syndrome,Malformation syndrome,Disorder,,0017177,Q87.3,,C4749904,,,,Hemihyperplasia-multiple lipomatosis syndrome,Childhood,Not applicable
276399,Familial multinodular goiter,Disease,Disorder,5A01.2,0007681,E04.2,138800,C5779622,,,,Familial multinodular goiter,Adolescent,Autosomal dominant
3239,Deafness-vitiligo-achalasia syndrome,Malformation syndrome,Disorder,LD2H.Y,0009085,Q87.8,221350,C4518568,,,1705,Deafness-vitiligo-achalasia syndrome,"Infancy, Neonatal",Autosomal recessive
276267,OBSOLETE: Xeroderma pigmentosum complementation group G,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3238,Cardiospondylocarpofacial syndrome,Malformation syndrome,Disorder,LD2H.Y,0008005,Q87.8,157800,C2931461,C537269,,2362,Cardiospondylocarpofacial syndrome,All ages,Autosomal dominant
276271,NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia,Biological anomaly,Disorder,,,,,,,,,,,
3237,Multiple synostoses syndrome,Malformation syndrome,Disorder,LD26.3,0017923,Q78.8,617898,C0175700,,,,Multiple synostoses syndrome,Childhood,Autosomal dominant
3246,Symphalangism with multiple anomalies of hands and feet,Malformation syndrome,Disorder,,0008510,Q74.8,185750,C1861391,C566098,,5077,Symphalangism with multiple anomalies of hands and feet,"Infancy, Neonatal",
276413,10q22.3q23.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.A0,0012830,Q93.5,612242,C4749270,,,,10q22.3q23.3 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
276402,OBSOLETE: Limbic encephalitis with caspr2 antibodies,Disease,Disorder,,,,,,,,,,,
3242,Renpenning syndrome,Malformation syndrome,Disorder,LD90.Y,0010653,Q87.5,309500,C0796135,,,9509,Renpenning syndrome,"Infancy, Neonatal",X-linked recessive
276405,Hyperbiliverdinemia,Disease,Disorder,5C90.1,0013595,K76.8,614156,C3279964,,,,Hyperbiliverdinemia,Adult,"Autosomal dominant, Autosomal recessive"
3250,Proximal symphalangism,Malformation syndrome,Disorder,LB90.Y,0008511,Q70.9,615298,C1861385,C536223,,8182,Proximal symphalangism,"Infancy, Neonatal",Autosomal dominant
3248,Isolated distal symphalangism,Morphological anomaly,Disorder,LB90.Y,0008509,Q70.9,185700,C5925003,,,5074,Isolated distal symphalangism,"Infancy, Neonatal",Autosomal dominant
276422,10q22.3q23.3 microduplication syndrome,Malformation syndrome,Disorder,LD41.90,0017180,Q92.3,,C5190512,,,,10q22.3q23.3 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
276429,Hypnic headache,Disease,Disorder,8A83,0017181,G44.8,,C0752150,,10088606,10796,Hypnic headache,"Adult, Childhood, Elderly",Not applicable
276525,Familial hyperinsulinism,Category,Group of disorders,,0017182,,,C5848294,,,,,,
3255,Filippi syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010092,Q87.8,272440,C0795940,C538152,10083943,62,Filippi syndrome,"Infancy, Neonatal",Autosomal recessive
276556,Hyperinsulinism due to UCP2 deficiency,Disease,Disorder,,0017183,E16.1,,C4303082,,,,Hyperinsulinism due to UCP2 deficiency,"Infancy, Neonatal",Autosomal dominant
276432,Ogden syndrome,Malformation syndrome,Disorder,,0010457,E34.8,300855,C3275447,,10082376,,Ogden syndrome,"Infancy, Neonatal","X-linked dominant, X-linked recessive"
3253,Cleft lip/palate-ectodermal dysplasia syndrome,Malformation syndrome,Disorder,LD27.0Y,0009151,Q82.4,225060,C2931488,C536726,,375,Cleft lip/palate-ectodermal dysplasia syndrome,"Infancy, Neonatal",Autosomal recessive
276435,Lower motor neuron syndrome with late-adult onset,Disease,Disorder,8B60.Y,0014025,G12.1,615048,C5191007,,,,Lower motor neuron syndrome with late-adult onset,Adult,Autosomal dominant
911,Combined immunodeficiency due to ZAP70 deficiency,Disease,Disorder,4A01.1Y,0010023,D81.8,269840,C2931299,C536722,,387,Combined immunodeficiency due to ZAP70 deficiency,Childhood,Autosomal recessive
3325,Classic heparin-induced thrombocytopenia,Disease,Disorder,3B64.12,0018048,D69.5,,C0272285,,10062506,2650,Classic heparin-induced thrombocytopenia,All ages,Not applicable
746,Mitochondrial trifunctional protein deficiency,Disease,Disorder,5C52.01,0012172,G71.3,609015,C1969443,C566945,10077949,3684,Mitochondrial trifunctional protein deficiency,"Infancy, Neonatal",Autosomal recessive
943,Malonic aciduria,Disease,Disorder,5C50.E1,0009556,E72.8,248360,C0342793,C535702,,3371,Malonic aciduria,Childhood,Autosomal recessive
621,Autosomal recessive methemoglobinemia,Disease,Disorder,,0018963,D74.0,250800,C0272087,C580280,10010543,2659,Autosomal recessive methemoglobinemia,"Infancy, Neonatal",Autosomal recessive
1002,NON RARE IN EUROPE: Cluster headache,Disease,Disorder,,,G44.0,,,,,,,,
2089,Glycogen storage disease due to hepatic glycogen synthase deficiency,Disease,Disorder,5C51.3,0009414,E74.0,240600,C4510753,,,2513,Glycogen storage disease due to hepatic glycogen synthase deficiency,Childhood,Autosomal recessive
412,Dysbetalipoproteinemia,Disease,Disorder,5C80.2,0018473,E78.2,617347,C0020479,D006952,10060751,6703,Dysbetalipoproteinemia,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Multigenic/multifactorial"
743,Severe hereditary thrombophilia due to congenital protein S deficiency,Disease,Disorder,3B61.0Y,0019144,D68.5,614514,C2584611,,,,Severe hereditary thrombophilia due to congenital protein S deficiency,"Infancy, Neonatal",Autosomal recessive
424,Familial hyperthyroidism due to mutations in TSH receptor,Disease,Disorder,5A02.Y,0012203,E05.8,609152,C4274306,,,2858,Familial hyperthyroidism due to mutations in TSH receptor,All ages,Autosomal dominant
325,Congenital factor II deficiency,Disease,Disorder,3B14.Z,0013361,D68.2,613679,C0272317,,10016076,2926,Congenital factor II deficiency,All ages,Autosomal recessive
343,Hyperimmunoglobulinemia D with periodic fever,Clinical subtype,Subtype of disorder,4A60.Y,0009849,E85.0,260920,C0398691,,10072010,2788,Hyperimmunoglobulinemia D with periodic fever,Infancy,Autosomal recessive
572,Immunodeficiency by defective expression of MHC class II,Disease,Disorder,4A01.12,0008855,D81.7,209920,C2931418,C537079,,824,Immunodeficiency by defective expression of MHC class II,"Infancy, Neonatal",Autosomal recessive
3324,Familial thrombomodulin anomalies,Disease,Disorder,3B61.0Y,0018047,D68.8,,C2931365,C536900,,5195,,,
1930,Herpes simplex virus encephalitis,Disease,Disorder,1F00.21,0012521,G05.1*,617900,C0276226,D020803,10019953,6649,Herpes simplex virus encephalitis,All ages,"Multigenic/multifactorial, Not applicable"
158,Systemic primary carnitine deficiency,Disease,Disorder,5C52.00,0008919,E71.3,212140,C0342788,C536778,,5104,Systemic primary carnitine deficiency,"Infancy, Neonatal",Autosomal recessive
202948,Syndromic microphthalmia-anophthalmia-coloboma,Category,Group of disorders,,,,,C5679782,,,,,,
202940,Anomaly of puberty or/and menstrual cycle of genetic origin,Category,Group of disorders,,,,,C5680789,,,,,,
2056,Essential fructosuria,Disease,Disorder,5C51.5Y,0009252,E74.1,229800,C0268160,C538068,10015487,,Essential fructosuria,All ages,Autosomal recessive
206436,Infantile Krabbe disease,Clinical subtype,Subtype of disorder,8A44.4,0016089,E75.2,245200,C0751273,,,,Infantile Krabbe disease,Infancy,Autosomal recessive
820,Sneddon syndrome,Disease,Disorder,4A44.6,0008436,I77.8,182410,C0282492,D018860,10053841,7664,Sneddon syndrome,Adult,"Autosomal dominant, Not applicable"
206428,Hypoxanthine-guanine phosphoribosyltransferase deficiency,Clinical group,Group of disorders,,0016088,,,C5848153,,10075774,2943,Hypoxanthine-guanine phosphoribosyltransferase deficiency,All ages,X-linked recessive
1945,Self-limited epilepsy with centrotemporal spikes,Disease,Disorder,8A61.20,0007295,G40.0,245570,C0376532,D019305,10070530,10287,Self-limited epilepsy with centrotemporal spikes,Childhood,Autosomal dominant
440,OBSOLETE: Familial hypospadias,Morphological anomaly,Disorder,,,,,,,,,,,
832,Succinyl-CoA:3-oxoacid CoA transferase deficiency,Disease,Disorder,5C52.02,0009492,E71.3,245050,C0342792,C537527,,4774,Succinyl-CoA:3-oxoacid CoA transferase deficiency,"Infancy, Neonatal",Autosomal recessive
6,3-methylcrotonyl-CoA carboxylase deficiency,Disease,Disorder,5C50.E0,0018950,E71.1,210210,C4551505,C535308,,10954,3-methylcrotonyl-CoA carboxylase deficiency,All ages,Autosomal recessive
20,3-hydroxy-3-methylglutaric aciduria,Disease,Disorder,5C50.E0,0009520,E71.1,246450,C0268601,C538324,,8387,3-hydroxy-3-methylglutaric aciduria,All ages,Autosomal recessive
714,Hemolytic anemia due to diphosphoglycerate mutase deficiency,Disease,Disorder,3A10.Y,0009113,D55.2,222800,C0272069,,,1874,Hemolytic anemia due to diphosphoglycerate mutase deficiency,Infancy,Autosomal recessive
712,Hemolytic anemia due to glucophosphate isomerase deficiency,Disease,Disorder,3A10.Y,0013275,D55.2,613470,C0272064,,,,Hemolytic anemia due to glucophosphate isomerase deficiency,"Infancy, Neonatal",Autosomal recessive
2831,"Rhizomelic dysplasia, Patterson-Lowry type",Malformation syndrome,Disorder,LD24.A,0011079,Q78.8,601438,C1832359,C537609,,4703,"Rhizomelic dysplasia, Patterson-Lowry type","Childhood, Infancy",
1129,Arachnodactyly-abnormal ossification-intellectual disability syndrome,Malformation syndrome,Disorder,,0015234,Q87.8,,C2931398,C537024,,381,Arachnodactyly-abnormal ossification-intellectual disability syndrome,"Infancy, Neonatal",Unknown
206546,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,Disease,Disorder,8C70.1,0016097,G71.0,,C4707359,,,,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,Adult,X-linked recessive
1383,Cataract-deafness-hypogonadism syndrome,Malformation syndrome,Disorder,LD2H.Y,0015325,Q87.8,,C2931269,C536626,,248,Cataract-deafness-hypogonadism syndrome,"Infancy, Neonatal",Autosomal recessive
206538,Malignant non-dysgerminomatous germ cell tumor of ovary,Disease,Disorder,2C73.Y,0016096,C56,,C5679783,,,,Malignant non-dysgerminomatous germ cell tumor of ovary,Adolescent,Unknown
206554,Fukutin-related limb-girdle muscular dystrophy R13,Disease,Disorder,8C70.41,0012699,G71.0,611588,C1969040,C566912,,,Fukutin-related limb-girdle muscular dystrophy R13,Infancy,Autosomal recessive
1849,OBSOLETE: Infundibulopelvic stenosis-multicystic kidney syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1524,Craniomicromelic syndrome,Malformation syndrome,Disorder,LD24.GY,0011253,Q87.0,602558,C1865184,C566522,,1583,Craniomicromelic syndrome,"Infancy, Neonatal",
206549,Anoctamin-5-related limb-girdle muscular dystrophy R12,Disease,Disorder,,0012652,G71.0,611307,C1969785,C566968,,,Anoctamin-5-related limb-girdle muscular dystrophy R12,"Adolescent, Adult, Childhood",Autosomal recessive
1123,Caudal appendage-deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0015233,Q87.8,,C2931593,C537713,,1163,Caudal appendage-deafness syndrome,Neonatal,
206564,POMGNT1-related limb-girdle muscular dystrophy R15,Disease,Disorder,,0013161,G71.0,613157,C3150417,,,,POMGNT1-related limb-girdle muscular dystrophy R15,"Adolescent, Childhood",Autosomal recessive
206559,POMT2-related limb-girdle muscular dystrophy R14,Disease,Disorder,,0013162,G71.0,613158,C3150418,,,,POMT2-related limb-girdle muscular dystrophy R14,Infancy,Autosomal recessive
206572,Overlap myositis,Disease,Disorder,,0016099,M33.2,,C5679784,,,,Overlap myositis,Adult,Not applicable
3263,Syngnathia-cleft palate syndrome,Malformation syndrome,Disorder,,0017981,Q18.8,,C5680792,,,5091,Syngnathia-cleft palate syndrome,"Antenatal, Neonatal",
206569,Immune-mediated necrotizing myopathy,Disease,Disorder,,0016098,G72.4,,C3267047,,,,Immune-mediated necrotizing myopathy,"Adolescent, Adult, Childhood, Elderly",Not applicable
206580,Autosomal recessive lower motor neuron disease with childhood onset,Disease,Disorder,8B61.4,0012608,G12.2,611067,C1970211,C567023,,,Autosomal recessive lower motor neuron disease with childhood onset,Childhood,Autosomal recessive
206575,Rippling muscle disease with myasthenia gravis,Disease,Disorder,8C60.Y,0016100,G70.8,,C4749335,,,,Rippling muscle disease with myasthenia gravis,,Not applicable
206443,Late-infantile/juvenile Krabbe disease,Clinical subtype,Subtype of disorder,8A44.4,0016090,E75.2,245200,C0268252,,,,Late-infantile/juvenile Krabbe disease,"Adolescent, Childhood, Infancy",Autosomal recessive
3439,Von Voss-Cherstvoy syndrome,Malformation syndrome,Disorder,,0009121,Q87.8,223340,C1857226,C565618,,1894,Von Voss-Cherstvoy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
206448,Adult Krabbe disease,Clinical subtype,Subtype of disorder,8A44.4,0016091,E75.2,245200,C5680793,,,,Adult Krabbe disease,Adult,Autosomal recessive
206470,Cystadenoma of childhood,Disease,Disorder,,,D27,,C5679785,,,,Cystadenoma of childhood,Childhood,
1217,Spinal atrophy-ophthalmoplegia-pyramidal syndrome,Disease,Disorder,,0015250,G12.2,,C2930956,C535625,,4942,Spinal atrophy-ophthalmoplegia-pyramidal syndrome,Neonatal,
206473,OBSOLETE: Borderline epithelial tumor of ovary,Disease,Disorder,,,,,,,,,,,
2680,Hypomyelination neuropathy-arthrogryposis syndrome,Malformation syndrome,Disorder,,0017049,Q68.8,617468,C4707882,,,,Hypomyelination neuropathy-arthrogryposis syndrome,Antenatal,Autosomal recessive
206484,Gonadoblastoma,Disease,Disorder,,0002697,D39.1,424500,C0206661,D018238,,,Gonadoblastoma,Adolescent,
1681,Diprosopus,Morphological anomaly,Disorder,,0015672,Q89.4,,C0266731,,,1876,Diprosopus,Antenatal,No data available
206489,Malignant germ cell tumor of the vagina,Disease,Disorder,2C71.Y,0016094,C52,,C4749402,,,,,,
206492,Vulvovaginal rhabdomyosarcoma,Disease,Disorder,2C71.Y,,C52,,C4707823,,,,,,
1534,"OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type",Malformation syndrome,Disorder,,,,,,,,,,,
1655,Müllerian derivatives-lymphangiectasia-polydactyly syndrome,Malformation syndrome,Disorder,,0009333,Q87.8,235255,C1856159,C536478,,5430,Müllerian derivatives-lymphangiectasia-polydactyly syndrome,"Antenatal, Neonatal",Unknown
206701,Bulbospinal muscular atrophy,Category,Group of disorders,,0016113,,,C0393547,,,,,,
633,Laron syndrome,Disease,Disorder,5A61.0,0009877,E34.3,262500,C0271568,D046150,10075492,6859,Laron syndrome,"Infancy, Neonatal",Autosomal recessive
669,OBSOLETE: Otopalatodigital syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
206662,Inclusion myopathy,Category,Group of disorders,,,,,C5680794,,,,,,
206659,OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly,Category,Group of disorders,,,,,,,,,,,
478,Kallmann syndrome,Clinical subtype,Subtype of disorder,5A61.2,0018800,E23.0,615271,C0162809,D017436,10053142,10771,Kallmann syndrome,"Adolescent, Childhood","Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive"
206713,OBSOLETE: Distal spinal muscular atrophy,Category,Group of disorders,,,,,,,,,,,
206710,Generalized bulbospinal muscular atrophy,Clinical group,Group of disorders,,,,,C5680795,,,,,,
206707,Bulbospinal muscular atrophy of adult,Clinical group,Group of disorders,,,,,C5680796,,,,,,
822,Hereditary spherocytosis,Disease,Disorder,3A10.Y,0019350,D58.0,616649,C0037889,D013103,10019904,6639,Hereditary spherocytosis,All ages,"Autosomal dominant, Autosomal recessive"
910,Xeroderma pigmentosum,Disease,Disorder,LD27.1,0019600,Q82.1,610651,C0043346,D014983,10048220,7910,Xeroderma pigmentosum,All ages,Autosomal recessive
206704,Bulbospinal muscular atrophy of childhood,Clinical group,Group of disorders,,,,,C5680797,,,,,,
229,Familial aortic dissection,Disease,Disorder,BD50.Z,0024559,I71.0,607086,C0345050,,,1654,Familial aortic dissection,All ages,
206966,Mitochondrial myopathy,Category,Group of disorders,8C73,,G71.3,,C0162670,D017240,10027710,,,,
279,NON RARE IN EUROPE: Age-related macular degeneration,Disease,Disorder,,,,,,,,,,,
206959,Muscular glycogenosis,Clinical group,Group of disorders,,,,,C5679786,,,,,,
777,X-linked non-syndromic intellectual disability,Etiological subtype,Subtype of disorder,LD90.Y,0019181,F72,301008,C3501611,,,,X-linked non-syndromic intellectual disability,"Childhood, Infancy",X-linked recessive
206953,Muscular lipidosis,Category,Group of disorders,,,,,C0410214,C562935,,,,,
766,Hemolytic anemia due to red cell pyruvate kinase deficiency,Disease,Disorder,3A10.Y,0009950,D55.2,266200,C0340968,C564858,,7514,Hemolytic anemia due to red cell pyruvate kinase deficiency,"Infancy, Neonatal",Autosomal recessive
206979,OBSOLETE: Granulomatous myositis,Category,Group of disorders,,,,,,,,,,,
206976,Periodic paralysis,Clinical group,Group of disorders,8C74.1,0016122,G72.3,,,D010245,,,,,
411,Hyperlipoproteinemia type 1,Disease,Disorder,,,,,C0023817,,,,,,
28,Vitamin B12-responsive methylmalonic acidemia,Disease,Disorder,5C50.E0,0017214,E71.1,277410,C0342720,,,12623,Vitamin B12-responsive methylmalonic acidemia,Childhood,Autosomal recessive
206973,Congenital myotonia,Clinical group,Group of disorders,,,,,C5848362,D009224,10049841,,,,
206970,Myotonic syndrome,Category,Group of disorders,,0016120,,,C5680798,D020967,10028658,,,,
206594,Subacute inflammatory demyelinating polyneuropathy,Disease,Disorder,8C01.2,0016102,G61.8,,C0456517,,10081726,,Subacute inflammatory demyelinating polyneuropathy,All ages,
206599,Isolated asymptomatic elevation of creatine phosphokinase,Biological anomaly,Disorder,,0016103,R74.8,123320,C4751434,,,,Isolated asymptomatic elevation of creatine phosphokinase,All ages,Autosomal dominant
3206,Stüve-Wiedemann syndrome,Malformation syndrome,Disorder,LD24.C,0800043,Q78.8,601559,C0796176,C537502,,5045,Stüve-Wiedemann syndrome,"Antenatal, Neonatal",Autosomal recessive
206583,Adult polyglucosan body disease,Clinical subtype,Subtype of disorder,5C51.3,0009897,E74.0,263570,C1849722,C564878,10077946,108,Adult polyglucosan body disease,Adult,Autosomal recessive
206586,Neurolymphomatosis,Disease,Disorder,8C01.Y,0016101,G63.1,,C4553088,D000077162,,,,,
206613,Infectious disease with peripheral neuropathy,Category,Group of disorders,,,,,C1278821,,,,,,
2729,Okamoto syndrome,Malformation syndrome,Disorder,,,,,,C565736,,4064,,,
206616,OBSOLETE: Acquired metabolic neuropathy,Disease,Disorder,,,,,,,,,,,
206606,OBSOLETE: Other muscle weakness and/or chronic muscle pain,Category,Group of disorders,,,,,,,,,,,
1844,"OBSOLETE: Bone dysplasia, Azouz type",Malformation syndrome,Disorder,,,,,,,,,,,
206610,OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain,Category,Group of disorders,,,,,,,,,,,
206638,Acquired skeletal muscle disease,Category,Group of disorders,,0016105,,,C5680799,,,,,,
65,Leber congenital amaurosis,Disease,Disorder,9B70,0018998,H35.5,617879,C0339527,D057130,10070667,634,Leber congenital amaurosis,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
206644,Progressive muscular dystrophy,Category,Group of disorders,,0016106,,,C4551827,,,,,,
206619,OBSOLETE: Toxic or/and iatrogenic neuropathy,Disease,Disorder,,,,,,,,,,,
206634,Genetic skeletal muscle disease,Category,Group of disorders,,,,,C5680800,,,,,,
321,Multiple osteochondromas,Disease,Disorder,LD24.20,0005508,Q78.6,600209,C0206641,,,7035,Multiple osteochondromas,Childhood,Autosomal dominant
206653,Autosomal recessive distal myopathy,Category,Group of disorders,,,,,C5680801,,,,Autosomal recessive distal myopathy,,Autosomal recessive
206656,Non-dystrophic myopathy,Category,Group of disorders,,,,,C5680802,,,,,,
206647,Myotonic dystrophy,Clinical group,Group of disorders,8C71.0,0016107,G71.1,,C0027126,D009223,10068871,10419,,,
144,Lynch syndrome,Disease,Disorder,2B90.Y,0005835,C18.1,614385,C4552100,D003123,10051981,9905,Lynch syndrome,Adult,Autosomal dominant
206650,Autosomal dominant distal myopathy,Category,Group of disorders,,0016108,,,C5680803,,,,Autosomal dominant distal myopathy,,Autosomal dominant
110,Bardet-Biedl syndrome,Disease,Disorder,5A61.0,0015229,Q87.8,617406,C0752166,D020788,10056715,6866,Bardet-Biedl syndrome,"Antenatal, Childhood, Infancy, Neonatal","Autosomal recessive, Oligogenic"
207085,Qualitative or quantitative defects of dystrophin,Category,Group of disorders,,0016147,,,C5679787,,,2031,,,
2756,OBSOLETE: Orofaciodigital syndrome type 10,Malformation syndrome,Disorder,,,,,,,,,,,
207090,Qualitative or quantitative defects of collagen 6,Category,Group of disorders,,,,,C5680804,,,,,,
3095,Atypical Rett syndrome,Disease,Disorder,LD90.Y,0017746,F84.2,312750,C2748910,C567576,,4694,Atypical Rett syndrome,Neonatal,"Autosomal dominant, X-linked dominant"
207094,Laminin subunit alpha 2-related muscular dystrophy,Category,Group of disorders,,,,,C5679788,,,,,,
2326,Kallmann syndrome-heart disease syndrome,Malformation syndrome,Disorder,,0016515,Q24.8,,C4302897,,,,Kallmann syndrome-heart disease syndrome,"Infancy, Neonatal",Autosomal recessive
207098,Qualitative or quantitative defects of integrin alpha-7,Category,Group of disorders,,,,,C5679789,,,,,,
378,NON RARE IN EUROPE: Sjögren syndrome,Disease,Disorder,,,M35.0,,,,,,,,
207067,Qualitative or quantitative defects of gamma-sarcoglycan,Category,Group of disorders,,0016143,,,C5680805,,,,,,
1130,Arachnodactyly-intellectual disability-dysmorphism syndrome,Malformation syndrome,Disorder,,0015235,Q87.8,,C4304030,,,764,Arachnodactyly-intellectual disability-dysmorphism syndrome,"Infancy, Neonatal",Unknown
207070,Qualitative or quantitative defects of delta-sarcoglycan,Category,Group of disorders,,0016144,,,C5680806,,,,,,
207073,Qualitative or quantitative defects of dysferlin,Category,Group of disorders,,0016145,,,C2931687,C537995,,2003,,,
2626,OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
207078,Qualitative or quantitative defects of caveolin-3,Category,Group of disorders,,,,,C5679790,,,,,,
3207,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,Malformation syndrome,Disorder,,0017918,Q87.0,,C2931292,C536701,,5560,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,Neonatal,
207049,Qualitative or quantitative protein defects in neuromuscular diseases,Category,Group of disorders,,0016139,,,C5680807,,,,,,
936,Succinic acidemia,Disease,Disorder,,,,600335,C1838243,,,,,,
207052,Qualitative or quantitative defects of sarcoglycan,Category,Group of disorders,,,,,C2936331,D058088,10083931,,,,
207060,Qualitative or quantitative defects of alpha-sarcoglycan,Category,Group of disorders,,0016141,,,C5680808,,,,,,
207063,Qualitative or quantitative defects of beta-sarcoglycan,Category,Group of disorders,,0016142,,,C5680809,,,,,,
2244,Hypopituitarism-microphthalmia syndrome,Malformation syndrome,Disorder,,,,,C2931361,,,,,,
207031,OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy,Category,Group of disorders,,,,,,,,,,,
207038,Acute and subacute inflammatory demyelinating polyneuropathy,Category,Group of disorders,,,,,C5679791,,,,,,
2058,Fryns-Smeets-Thiry syndrome,Malformation syndrome,Disorder,,0023201,Q87.0,,C5680810,,,2409,Fryns-Smeets-Thiry syndrome,Childhood,
2538,Microgastria-limb reduction defect syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007993,Q87.8,156810,C4303067,C537554,,3640,Microgastria-limb reduction defect syndrome,"Infancy, Neonatal",Not applicable
1192,Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,Malformation syndrome,Disorder,LD2H.Y,0008843,I70.9,209010,C2931125,C536178,,2279,Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,Childhood,Autosomal recessive
207046,Malignant lymphoma with peripheral neuropathy,Category,Group of disorders,,,,,C5680812,,,,,,
207021,Rare hereditary systemic disease with peripheral neuropathy,Category,Group of disorders,,,,,C5680813,,,,,,
2062,Progressive non-infectious anterior vertebral fusion,Malformation syndrome,Disorder,LD24.H,0016087,Q87.8,,C4304839,,,,Progressive non-infectious anterior vertebral fusion,Childhood,Not applicable
207018,Rare hereditary metabolic disease with peripheral neuropathy,Category,Group of disorders,,,,,C5680814,,,,,,
2015,Cleft palate-short stature-vertebral anomalies syndrome,Malformation syndrome,Disorder,,0016065,Q87.0,,C4304704,,,1392,Cleft palate-short stature-vertebral anomalies syndrome,"Infancy, Neonatal",Autosomal dominant
207028,Cerebellar ataxia with peripheral neuropathy,Category,Group of disorders,,,G60.2,,C5680815,,,,,,
2427,Macrocephaly-short stature-paraplegia syndrome,Malformation syndrome,Disorder,,0016571,Q87.1,,C2931595,C537718,,172,Macrocephaly-short stature-paraplegia syndrome,Adult,Unknown
207025,Rare hereditary neurologic disease with peripheral neuropathy,Category,Group of disorders,,,,,C5680816,,,,,,
2898,X-linked intellectual disability-plagiocephaly syndrome,Malformation syndrome,Disorder,,0010237,Q87.0,300064,C2931516,C537512,,2765,X-linked intellectual disability-plagiocephaly syndrome,"Infancy, Neonatal",X-linked recessive
207009,OBSOLETE: Acquired rod-body myopathy,Category,Group of disorders,,,,,,,,,,,
207006,OBSOLETE: Acquired amyloid myopathy,Category,Group of disorders,,,,,,,,,,,
1474,Colobomatous-microphthalmia-heart disease-hearing loss syndrome,Malformation syndrome,Disorder,,,,,C2931818,,,,,,
207015,Rare hereditary disease with peripheral neuropathy,Category,Group of disorders,,,,,C5680817,,,,,,
207012,Spinal muscular atrophy associated with central nervous system anomaly,Clinical group,Group of disorders,,,,,C5680818,,,,,,
206997,Parasitic myositis,Category,Group of disorders,,0016128,,,C0263997,,,,Parasitic myositis,All ages,
1789,OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
206994,Bacterial myositis,Disease,Disorder,FB30,0016127,M60.0,,C0263979,,10085526,,Bacterial myositis,All ages,
207003,OBSOLETE: Endocrine myopathy,Category,Group of disorders,,,,,,,,,,,
2349,Muscular pseudohypertrophy-hypothyroidism syndrome,Disease,Disorder,5A00.0Y,0016521,E03.1,,C0270958,C537211,10090560,8270,Muscular pseudohypertrophy-hypothyroidism syndrome,Childhood,
207000,Fungal myositis,Disease,Disorder,FB30,0016130,M60.0,,C0410251,,10086251,,Fungal myositis,All ages,
206985,OBSOLETE: Drug and/or toxic myopathy,Category,Group of disorders,,,,,,,,,,,
1423,Lethal recessive chondrodysplasia,Malformation syndrome,Disorder,FB82.Y,0015425,Q78.8,,C4304745,,,3399,Lethal recessive chondrodysplasia,"Infancy, Neonatal",Autosomal recessive
206982,Muscular tumor,Category,Group of disorders,,,,,C0282606,D019042,10070956,,,,
2183,Hydrocephalus-obesity-hypogonadism syndrome,Malformation syndrome,Disorder,,0016346,Q87.1,,C4303476,,,2775,Hydrocephalus-obesity-hypogonadism syndrome,"Infancy, Neonatal",X-linked recessive
206991,Viral myositis,Disease,Disorder,FB30,0016126,M60.0,,C0150005,,10051512,,Viral myositis,All ages,
206988,"Infectious, fungal or parasitic myopathy",Category,Group of disorders,FB30,,,,C5680819,,,,,,
209007,Systemic inflammatory disease associated with an acquired peripheral neuropathy,Category,Group of disorders,,,,,C5680820,,,,,,
209010,Peripheral neuropathy associated with monoclonal gammopathy,Category,Group of disorders,,,,,C5680821,,,,,,
1114,Aplasia cutis congenita,Malformation syndrome,Disorder,LC60,0007145,Q84.8,107600,C0282160,,10002963,5835,Aplasia cutis congenita,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
208999,Paraneoplastic sensory ganglionopathy,Disease,Disorder,8E4A.1,0016174,G60.8,,C5679792,,,,,,
3271,Radio-ulnar synostosis-retinal pigment abnormalities syndrome,Malformation syndrome,Disorder,,,,,C2931149,C536270,,,,,
209004,Polyneuropathy associated with IgM monoclonal gammopathy,Disease,Disorder,,0016176,G61.8,,C5680822,,,,Polyneuropathy associated with IgM monoclonal gammopathy,"Adult, Elderly",Not applicable
1530,OBSOLETE: Craniosynostosis-cataract syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
208989,Non-paraneoplastic sensory ganglionopathy,Disease,Disorder,,0016173,G60.8,,C5679793,,,,,,
208994,OBSOLETE: Other ganglionopathy related to autoimmune diseases,Category,Group of disorders,,,,,,,,,,,
208981,OBSOLETE: Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies,Disease,Disorder,,,,,,,,,,,
208984,Acquired sensory ganglionopathy,Category,Group of disorders,,,,,C5679794,,,,,,
1894,Ectrodactyly-spina bifida-cardiopathy syndrome,Malformation syndrome,Disorder,,,,,C2931393,,,,,,
208974,Chronic acquired demyelinating polyneuropathy,Clinical group,Group of disorders,,,,,C5848284,,,,,,
1101,Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,Malformation syndrome,Disorder,,0015230,Q87.8,,C4304035,,,717,Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,"Infancy, Neonatal",Autosomal recessive
208978,Chronic polyradiculoneuropathy,Clinical group,Group of disorders,,,,,C5680824,,,,,,
208600,OBSOLETE: Papillary fibroelastoma of the heart,Disease,Disorder,,,,,,,,,,,
2184,Hydrocephaly-low insertion umbilicus syndrome,Malformation syndrome,Disorder,,0043164,Q87.0,,C2931734,C538107,,4199,Hydrocephaly-low insertion umbilicus syndrome,Neonatal,
208650,NLRP3-associated autoinflammatory disease,Clinical group,Group of disorders,4A60.1,0016168,,,C2316212,D056587,10068850,10927,NLRP3-associated autoinflammatory disease,"Adolescent, Childhood, Infancy, Neonatal","Autosomal dominant, Not applicable"
1779,Dysmorphism-cleft palate-loose skin syndrome,Malformation syndrome,Disorder,,0015782,Q87.0,,C4706366,,,2009,Dysmorphism-cleft palate-loose skin syndrome,"Antenatal, Neonatal",
1272,Aymé-Gripp syndrome,Malformation syndrome,Disorder,,0011049,Q87.8,601088,C0795941,C537933,,958,Aymé-Gripp syndrome,"Infancy, Neonatal",Autosomal recessive
208593,Genetic hypoparathyroidism,Category,Group of disorders,,,,,C5680825,,,,,,
208596,Genetic hyperparathyroidism,Category,Group of disorders,,,,,C5680826,,,,,,
208513,Spinocerebellar ataxia type 29,Disease,Disorder,8A03.16,0007298,G11.0,117360,C1861732,C537206,,10480,Spinocerebellar ataxia type 29,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
3331,OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
208524,Herpetiform pemphigus,Disease,Disorder,,0016164,L10.8,,C4749730,,,,,,
1485,"Arthrogryposis-hyperkeratosis syndrome, lethal form",Malformation syndrome,Disorder,,0008826,Q68.8,208158,C1859710,C535883,,3053,"Arthrogryposis-hyperkeratosis syndrome, lethal form",Neonatal,Unknown
208508,Autosomal dominant cerebellar ataxia type II,Clinical group,Group of disorders,,,,,C5848204,,,,Autosomal dominant cerebellar ataxia type II,,Autosomal dominant
208447,Bilateral generalized polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0013907,Q04.3,,C5139324,,,10786,Bilateral generalized polymicrogyria,"Antenatal, Infancy, Neonatal",Autosomal dominant
3051,Nicolaides-Baraitser syndrome,Malformation syndrome,Disorder,,0011053,Q87.1,601358,C1303073,C536116,,270,Nicolaides-Baraitser syndrome,"Infancy, Neonatal",Autosomal dominant
208444,Bilateral frontal polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0016162,Q04.3,,C5437679,,,10783,Bilateral frontal polymicrogyria,"Antenatal, Infancy, Neonatal",
208441,Bilateral parasagittal parieto-occipital polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0012986,Q04.3,612691,C5437680,,,10785,Bilateral parasagittal parieto-occipital polymicrogyria,"Antenatal, Infancy, Neonatal",Autosomal recessive
1134,Isolated arrhinia,Malformation syndrome,Disorder,LA70.0,0015237,Q30.1,,C0265740,C537438,,364,Isolated arrhinia,"Antenatal, Neonatal",Not applicable
1664,OBSOLETE: Embryonary disorganization syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
1768,Familial caudal dysgenesis,Malformation syndrome,Disorder,,0010831,Q87.8,,C2931053,C535879,,215,Familial caudal dysgenesis,"Infancy, Neonatal",Autosomal dominant
207122,Qualitative or quantitative defects of fukutin,Category,Group of disorders,,,,,C5681836,,,,,,
2204,"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type",Clinical subtype,Subtype of disorder,LD24.1Y,0100527,M89.8,,C5780027,,,,"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type",Antenatal,
207119,Qualitative or quantitative defects of FKRP,Category,Group of disorders,,0016156,,,C5680827,,,,,,
207113,Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan,Category,Group of disorders,,0016155,,,C5679795,,,,,,
2963,"Progeroid syndrome, Petty type",Clinical subtype,Subtype of disorder,,0012853,E34.8,612289,C2676780,C567360,,4497,"Progeroid syndrome, Petty type",Neonatal,Autosomal dominant
207110,Qualitative or quantitative defects of myotubularin,Category,Group of disorders,,,,,C5680828,,,,,,
207107,Qualitative or quantitative defects of TRIM32,Category,Group of disorders,,0016153,,,C5680829,,,,,,
2619,"Brachydactylous dwarfism, Mseleni type",Disease,Disorder,LD24.3,0013232,Q77.7,613342,C2931420,C537086,,960,"Brachydactylous dwarfism, Mseleni type",Childhood,Unknown
207104,Qualitative or quantitative defects of calpain,Category,Group of disorders,,,,,C5680830,,,,,,
207101,Qualitative or quantitative defects of perlecan,Category,Group of disorders,,0016151,,,C5680831,,,,,,
1541,"Craniosynostosis, Boston type",Malformation syndrome,Disorder,LD24.GY,0011481,Q75.8,604757,C1858160,C565753,,5538,"Craniosynostosis, Boston type","Infancy, Neonatal",Autosomal dominant
1415,Hardikar syndrome,Malformation syndrome,Disorder,,0012997,Q87.8,301068,C0795969,C535632,,9280,Hardikar syndrome,Neonatal,X-linked dominant
2151,Hirschsprung disease-ganglioneuroblastoma syndrome,Malformation syndrome,Disorder,,0013082,Q43.1,,C5191058,C538119,,2695,Hirschsprung disease-ganglioneuroblastoma syndrome,Neonatal,
2653,OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
209335,Autosomal dominant adult-onset proximal spinal muscular atrophy,Disease,Disorder,8B61.Y,0008453,G12.1,182980,C1854058,C566673,,,Autosomal dominant adult-onset proximal spinal muscular atrophy,"Adult, Elderly",Autosomal dominant
209341,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,Etiological subtype,Subtype of disorder,,0008026,G12.1,158600,C5780022,C563560,,13519,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
209185,Qualitative or quantitative defects of beta-myosin heavy chain (MYH7),Category,Group of disorders,,0016195,,,C5680832,,,,,,
1773,Sacrococcygeal dysgenesis association,Malformation syndrome,Disorder,,,,,,,,,,,
209188,Qualitative or quantitative defects of emerin,Category,Group of disorders,,,,,C5680833,,,,,,
3167,Siegler-Brewer-Carey syndrome,Malformation syndrome,Disorder,CB40.Y,0017849,J98.8,,C2931473,C537335,,4867,Siegler-Brewer-Carey syndrome,"Infancy, Neonatal",Autosomal recessive
209193,Qualitative or quantitative defects of selenoprotein N1,Category,Group of disorders,,0016197,,,C5680834,,,,,,
209196,Qualitative or quantitative defects of plectin,Category,Group of disorders,,0016198,,,C5680835,,,,,,
209199,Qualitative or quantitative defects of protein SERCA1,Category,Group of disorders,,0016199,,,C5680836,,,,,,
209203,Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -,Category,Group of disorders,,,,,C5680837,,,,,,
209224,Myotilinopathy,Category,Group of disorders,8C76,,,,,C563775,,,,,
209044,Qualitative or quantitative defects of alphaB-cristallin,Category,Group of disorders,,0016188,,,C5680838,,,,,,
1277,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,Malformation syndrome,Disorder,,0015259,Q87.8,,C4707567,,,5036,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,Neonatal,
209041,Qualitative or quantitative defects of desmin,Category,Group of disorders,,0016187,,,C5680839,,,,,,
2547,Microphthalmia-microtia-fetal akinesia syndrome,Malformation syndrome,Disorder,,0043143,Q68.8,,C2931224,C536513,,3650,Microphthalmia-microtia-fetal akinesia syndrome,"Antenatal, Neonatal",
209050,Qualitative or quantitative defects of protein ZASP,Category,Group of disorders,,0016190,,,C5680840,,,,,,
209047,Qualitative or quantitative defects of filamin C,Category,Group of disorders,,0016189,,,C5680841,,,,,,
209056,Qualitative or quantitative defects of telethonin,Category,Group of disorders,,0016192,,,C5680842,,,,,,
209053,Qualitative or quantitative defects of titin,Category,Group of disorders,,0016191,,,C5680843,,,,,,
209182,Qualitative or quantitative defects of nebulin,Category,Group of disorders,,0016194,,,C5680844,,,,,,
1778,Facial dysmorphism-shawl scrotum-joint laxity syndrome,Malformation syndrome,Disorder,,0015781,Q87.8,,C2931522,C537529,,4778,Facial dysmorphism-shawl scrotum-joint laxity syndrome,Neonatal,
209059,Qualitative or quantitative defects of alpha-actin,Category,Group of disorders,,0016193,,,C5680845,,,,,,
3074,Intellectual disability-short stature-hypertelorism syndrome,Malformation syndrome,Disorder,,0017668,Q87.8,,C4749650,,,3514,Intellectual disability-short stature-hypertelorism syndrome,Childhood,
2649,Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome,Malformation syndrome,Disorder,,,,243310,C2930979,,,,,,
209016,Hematological disease associated with an acquired peripheral neuropathy,Category,Group of disorders,,,,,C5680846,,,,,,
1258,OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
209013,Acquired amyloid peripheral neuropathy,Category,Group of disorders,,,,,C5680847,,,,,,
209024,"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase",Category,Group of disorders,,,,,C5679796,,,,,,
2161,OBSOLETE: Holoacardius amorphus,Malformation syndrome,Disorder,,,,,,,,,,,
1759,Thoraco-abdominal enteric duplication,Malformation syndrome,Disorder,LD2F.1Y,0015774,Q43.4,,C4518084,,,5181,Thoraco-abdominal enteric duplication,Infancy,
209019,Solid tumor associated with an acquired peripheral neuropathy,Category,Group of disorders,,,,,C5680848,,,,,,
209030,Qualitative or quantitative defects of protein O-mannosyltransferase 1,Category,Group of disorders,,0016184,,,C5680849,,,,,,
209027,Qualitative or quantitative defects of protein glycosyltransferase-like,Category,Group of disorders,,,,,C5680850,,,,,,
209038,Qualitative or quantitative defects of myofibrillar proteins,Category,Group of disorders,,0016186,,,C5680851,,,,,,
209033,Qualitative or quantitative defects of protein O-mannosyltransferase 2,Category,Group of disorders,,0016185,,,C5680852,,,,,,
489,NON RARE IN EUROPE: Thyroglossal duct cyst,Morphological anomaly,Disorder,,,,,,,,,,,
1167,OBSOLETE: Facial asymmetry-temporal seizures syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
210110,Intermediate osteopetrosis,Malformation syndrome,Disorder,LD24.10,0012679,Q78.2,611497,C0432261,,,4156,Intermediate osteopetrosis,Childhood,Autosomal recessive
3405,Umbilical cord ulceration-intestinal atresia syndrome,Malformation syndrome,Disorder,LD2F.1Y,0018085,Q43.8,,C4304396,C536938,,5403,Umbilical cord ulceration-intestinal atresia syndrome,Antenatal,Unknown
210115,Sterile multifocal osteomyelitis with periostitis and pustulosis,Disease,Disorder,4A00.Y,0013021,D84.8,612852,C2748507,C557815,10072224,10516,Sterile multifocal osteomyelitis with periostitis and pustulosis,"Infancy, Neonatal",Autosomal recessive
1884,Ectopia lentis-chorioretinal dystrophy-myopia syndrome,Disease,Disorder,LA12.Y,0015997,Q15.8,,C2931115,C536124,,3999,Ectopia lentis-chorioretinal dystrophy-myopia syndrome,"Infancy, Neonatal",Autosomal recessive
209981,IRIDA syndrome,Disease,Disorder,3A00.Y,0008788,D50.8,206200,C0085576,C562385,,10957,IRIDA syndrome,"Infancy, Neonatal",Autosomal recessive
209989,NON RARE IN EUROPE: Non-papillary transitional cell carcinoma of the bladder,Disease,Disorder,,0016211,,,C5679798,,,,,,
1459,Celiac disease-epilepsy-cerebral calcification syndrome,Disease,Disorder,,0009187,G40.8,226810,C4302597,,,2166,Celiac disease-epilepsy-cerebral calcification syndrome,Childhood,Not applicable
3360,OBSOLETE: Trichodermal syndrome-intellectual disability syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
210133,Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,Disease,Disorder,,0016213,Q82.8,,C4751169,,,,Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,"Infancy, Neonatal",Autosomal dominant
210136,Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,Disease,Disorder,DB99.Y,0016214,J84.1,,C4510085,,,,Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,Adult,Unknown
2582,Myalgia-eosinophilia syndrome associated with tryptophan,Malformation syndrome,Disorder,4A43.Y,0016822,M35.8,,C1275050,D016603,10014952,,Myalgia-eosinophilia syndrome associated with tryptophan,All ages,Not applicable
210122,Congenital alveolar capillary dysplasia,Disease,Disorder,CB04.0,0009934,Q33.6,265380,C2677362,C536590,10077023,8644,Congenital alveolar capillary dysplasia,"Infancy, Neonatal",Autosomal dominant
210128,Urocanic aciduria,Disease,Disorder,5C50.21,0010167,E70.8,276880,C0268514,C536479,,8539,Urocanic aciduria,"Infancy, Neonatal",Autosomal recessive
2254,Pontocerebellar hypoplasia type 1,Malformation syndrome,Disorder,LD20.01,0016396,Q04.3,616081,C5442006,C548069,,10704,Pontocerebellar hypoplasia type 1,Neonatal,Autosomal recessive
209959,Phacoanaphylactic uveitis,Disease,Disorder,9A96.Y,0016207,H20.2,,C1444621,,,,Phacoanaphylactic uveitis,Adult,Not applicable
209964,Solitary rectal ulcer syndrome,Disease,Disorder,DB33.0,0016208,K62.6,,C4274343,,,,Solitary rectal ulcer syndrome,Adult,Not applicable
209951,Autosomal spastic paraplegia type 18,Disease,Disorder,,0012639,G11.4,611225,C2749936,C567628,,4922,Autosomal spastic paraplegia type 18,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
209956,Idiopathic uveal effusion syndrome,Disease,Disorder,9B6Y,0016206,H31.8,,C4755300,,,,Idiopathic uveal effusion syndrome,Adult,Unknown
209973,Benign nocturnal alternating hemiplegia of childhood,Disease,Disorder,,0016209,G81.9,,C4749822,,,,Benign nocturnal alternating hemiplegia of childhood,"Childhood, Infancy",Unknown
209978,Alternating hemiplegia,Clinical group,Group of disorders,MB53.0,0016210,,,C0278110,,,,,,
209967,Episodic ataxia type 6,Disease,Disorder,8A03.14,0012982,G11.8,612656,C2675211,C567207,,,Episodic ataxia type 6,Childhood,Autosomal dominant
209970,Episodic ataxia type 7,Disease,Disorder,8A03.14,0012755,G11.8,611907,C2677843,C567459,,,Episodic ataxia type 7,Childhood,Autosomal dominant
2795,Fowler urethral sphincter dysfunction syndrome,Disease,Disorder,GC01.4,,N39.8,,C2931462,C537271,10071718,2365,Fowler urethral sphincter dysfunction syndrome,"Adolescent, Adult, Childhood",Unknown
209908,Isolated childhood apraxia of speech,Disease,Disorder,,0011184,F80.0,602081,C0750927,,,12889,Isolated childhood apraxia of speech,Childhood,Autosomal dominant
2033,OBSOLETE: Multifocal muscular fibrosis-obstructed vessels syndrome,Disease,Disorder,,,,,,,,,,,
209905,Brain-lung-thyroid syndrome,Disease,Disorder,CB04.5,0012593,E03.1,610978,C1970269,C567034,,12163,Brain-lung-thyroid syndrome,"Infancy, Neonatal",Autosomal dominant
2458,OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
209902,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,Disease,Disorder,5C80.00,0016203,E78.0,,C4751204,,,,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,Adult,Semi-dominant
209893,NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency,Biological anomaly,Disorder,,,,,,,,,,,
2666,Adult familial nephronophthisis-spastic quadriparesia syndrome,Disease,Disorder,GB83,0017044,Q61.8,,C4518090,,,,Adult familial nephronophthisis-spastic quadriparesia syndrome,Adult,Unknown
209943,IRVAN syndrome,Disease,Disorder,9B7Y,0016205,H35.0,,C3665812,,10073929,12868,IRVAN syndrome,"Adolescent, Adult, Childhood",Not applicable
209932,Cone dystrophy with supernormal rod response,Disease,Disorder,9B7Y,0012475,H35.5,610356,C1835897,,,10649,Cone dystrophy with supernormal rod response,"Adolescent, Adult, Childhood",Autosomal recessive
2125,Sacral hemangiomas-multiple congenital abnormalities syndrome,Malformation syndrome,Disorder,,,,,C2931443,,,,,,
209919,Idiopathic copper-associated cirrhosis,Disease,Disorder,DB93.21,0016204,K74.6,215600,C4274853,,,,Idiopathic copper-associated cirrhosis,Childhood,Unknown
1434,OBSOLETE: Choroideremia-hypopituitarism syndrome,Disease,Disorder,,,,,,,,,,,
209916,Extraskeletal myxoid chondrosarcoma,Disease,Disorder,2B50.Y,0012825,C49.9,612237,C1275278,C563195,10073134,,Extraskeletal myxoid chondrosarcoma,Adult,Not applicable
2519,Microcephaly-seizures-intellectual disability-heart disease syndrome,Malformation syndrome,Disorder,LD2F.1Y,0016719,Q87.8,,C4509817,C537544,,,Microcephaly-seizures-intellectual disability-heart disease syndrome,"Infancy, Neonatal",Unknown
1492,OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
209370,MECP2-related severe neonatal encephalopathy,Disease,Disorder,LD20.2,0010397,Q02,300673,C1968556,,,,MECP2-related severe neonatal encephalopathy,"Infancy, Neonatal",X-linked recessive
209886,OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1,Disease,Disorder,,,,,,,,,,,
209867,Autosomal dominant rhegmatogenous retinal detachment,Disease,Disorder,9B73.0,0016202,H33.0,609508,C1836081,C563710,,,Autosomal dominant rhegmatogenous retinal detachment,Adult,Autosomal dominant
210566,Myoclonic dystonia 15,Disease,Disorder,,,,607488,C1843786,C538002,,,,,
210571,Dystonia 16,Disease,Disorder,8A02.12,0012789,G24.1,612067,C2677567,C567430,,10539,Dystonia 16,"Childhood, Infancy",Autosomal recessive
3286,Catecholaminergic polymorphic ventricular tachycardia,Disease,Disorder,BC65.5,0017990,I47.2,615441,C5574922,C536334,,4421,Catecholaminergic polymorphic ventricular tachycardia,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive"
210272,Mal de débarquement,Clinical syndrome,Disorder,AB31.4,0016217,H81.8,,C1608983,C537840,10064924,6959,Mal de débarquement,All ages,Not applicable
210548,Macrocephaly-intellectual disability-autism syndrome,Disease,Disorder,,,Q87.8,605309,C5190809,,,,Macrocephaly-intellectual disability-autism syndrome,"Infancy, Neonatal",Autosomal dominant
210159,Adult hepatocellular carcinoma,Disease,Disorder,,0016216,C22.0,114550,C0279607,,,6608,Adult hepatocellular carcinoma,"Adult, Elderly",Not applicable
3283,His bundle tachycardia,Disease,Disorder,BC81.1,0017989,I47.1,,C0039235,D013613,10074640,2706,His bundle tachycardia,"Infancy, Neonatal",Unknown
210163,"Congenital lethal myopathy, Compton-North type",Disease,Disorder,,0012929,G71.2,612540,C4750773,,,,"Congenital lethal myopathy, Compton-North type","Antenatal, Neonatal",Autosomal recessive
3240,Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome,Disease,Disorder,LD2H.Y,0017924,G93.8,619147,C5925004,,,,Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome,No data available,Autosomal recessive
210141,Inherited congenital spastic tetraplegia,Disease,Disorder,MB50.1,,G82.4,612900,C5190693,,,,Inherited congenital spastic tetraplegia,"Infancy, Neonatal","Autosomal recessive, Unknown"
210144,"Lethal polymalformative syndrome, Boissel type",Malformation syndrome,Disorder,LD2F.1Y,0013050,Q87.8,612938,C4755275,,,,"Lethal polymalformative syndrome, Boissel type","Infancy, Neonatal",Autosomal recessive
1546,Cryptococcosis,Disease,Disorder,1F27.2,0005724,B45.9,,C0010414,D003453,10011490,6218,Cryptococcosis,All ages,Not applicable
67,Amoebiasis due to Entamoeba histolytica,Disease,Disorder,1A36.10,0019028,A06.9,,C2930799,C531613,,,Amoebiasis due to Entamoeba histolytica,All ages,Not applicable
210592,OBSOLETE: Giant infantile hemangioma,Disease,Disorder,,,,,,,,,,,
210584,Spindle cell hemangioma,Disease,Disorder,XH6RP8,0016222,D18.0,,C1304508,,,,Spindle cell hemangioma,"Adolescent, Adult, Childhood, Elderly",Not applicable
2023,Undifferentiated pleomorphic sarcoma,Disease,Disorder,,0002142,C49.9,,C0334463,D051677,,6963,Undifferentiated pleomorphic sarcoma,"Adolescent, Adult, Childhood, Elderly",Not applicable
210589,Rare infantile hemangioma,Clinical group,Group of disorders,,0016223,,,C3839613,,,,,,
416,Primary hyperoxaluria,Disease,Disorder,5C51.2,0002474,E74.8,613616,C0020501,D006960,10020703,,Primary hyperoxaluria,All ages,Autosomal recessive
210576,Congenital temporomandibular joint ankylosis,Disease,Disorder,,0016220,K07.6,,C4706319,,,,,,
210581,Temporomandibular joint anomaly,Category,Group of disorders,DA0E.8,,,,C1865318,,,,,,
599,Distal myopathy,Category,Group of disorders,8C75,0018949,,,C0751336,D049310,,,Distal myopathy,All ages,"Autosomal dominant, Autosomal recessive"
3392,Tularemia,Disease,Disorder,1B94.0,0018077,A21.9,,C0041351,D014406,10045146,396,Tularemia,All ages,Not applicable
211240,Genetic vascular anomaly,Category,Group of disorders,,,,,C5680854,,,,,,
1063,Tufted angioma,Disease,Disorder,2F2Y,0011927,D18.0,607859,C0346073,C536924,,425,Tufted angioma,All ages,"Multigenic/multifactorial, Not applicable"
211237,Rare vascular tumor,Category,Group of disorders,,,,,C5680855,,,,,,
2737,Onchocerciasis,Disease,Disorder,1F6A,0017137,B73,,C0029001,D009855,10030314,7252,Onchocerciasis,All ages,Not applicable
211067,Episodic ataxia type 5,Disease,Disorder,8A03.14,0013464,G11.8,613855,C1866039,C566601,,,Episodic ataxia type 5,All ages,Autosomal dominant
3343,Toxocariasis,Disease,Disorder,1F6D,0005988,B83.0,,C0040553,D014120,10044269,,Toxocariasis,Childhood,Not applicable
211062,Hereditary episodic ataxia,Category,Group of disorders,8A03.14,0016227,,,C1720189,C580065,,,,,
211053,Specific language disorder,Clinical group,Group of disorders,,0016226,,,C0454651,D000080888,,,,,
2034,Filariasis,Category,Group of disorders,1F66,0016075,B74,,C0016085,D005368,10016674,,Filariasis,All ages,Not applicable
211047,Specific learning disability,Clinical group,Group of disorders,,0016225,,,C4025790,,,,,,
2583,Mycetoma,Disease,Disorder,1G60.0,0016823,B47.9,,C0024449,D008271,10028427,3862,Mycetoma,All ages,Not applicable
211037,Autosomal dominant proximal spinal muscular atrophy,Clinical group,Group of disorders,,,,,C5680856,,,,Autosomal dominant proximal spinal muscular atrophy,,Autosomal dominant
1685,Distomatosis,Clinical group,Group of disorders,1F85,0015675,B66.8,,C0040820,,,1891,Distomatosis,All ages,Not applicable
211017,Spinocerebellar ataxia type 30,Disease,Disorder,8A03.16,0013241,G11.2,613371,C2936793,C575214,,4950,Spinocerebellar ataxia type 30,"Adult, Elderly",Autosomal dominant
1902,Ehrlichiosis,Disease,Disorder,1C3Y,0016003,A48.8,,C0085399,D016873,,2092,Ehrlichiosis,All ages,
656,Hereditary steroid-resistant nephrotic syndrome,Disease,Disorder,GB41,0019006,N04.8,607832,C4273714,,,3946,Hereditary steroid-resistant nephrotic syndrome,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
211277,Complex vascular malformation with associated anomalies,Category,Group of disorders,,,,,C5679799,,,,,,
211266,Fast-flow vascular malformation,Category,Group of disorders,,,,,C5680857,D001165,10003193,,,,
655,Nephronophthisis,Disease,Disorder,GB83,0019005,Q61.5,615862,C0687120,,,206,Nephronophthisis,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
211255,"Slow-flow malformation, lymphatic type",Category,Group of disorders,,,,,C5680858,,,,,,
211252,"Slow-flow malformation, venous type",Category,Group of disorders,,,,,C5680859,,10025532,,,,
2415,Isolated rare lymphatic malformation,Category,Group of disorders,LA90.1,,D18.1,,C5575909,,,9789,Isolated rare lymphatic malformation,"Infancy, Neonatal",Not applicable
211247,Rare capillary malformation,Category,Group of disorders,,,,,C5680860,,,,,,
2122,Kaposiform hemangioendothelioma,Disease,Disorder,2F72.Y,0016236,C49.9,,C1367420,C537007,10087551,3077,Kaposiform hemangioendothelioma,All ages,Not applicable
211243,Simple vascular malformation,Category,Group of disorders,,,,,C5680861,,,,,,
2591,Infantile myofibromatosis,Disease,Disorder,2F7C,0016824,D48.1,615293,C0432284,C562978,,2998,Infantile myofibromatosis,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
35,Propionic acidemia,Disease,Disorder,5C50.E0,0011628,E71.1,606054,C0268579,D056693,,467,Propionic acidemia,"Infancy, Neonatal",Autosomal recessive
407,Glycine encephalopathy,Disease,Disorder,5C50.70,0011612,E72.5,605899,C0751748,D020158,,7219,Glycine encephalopathy,"Infancy, Neonatal",Autosomal recessive
2968,Leukocyte adhesion deficiency,Disease,Disorder,4A00.0Y,0017570,D84.8,266265,C5550999,D018370,,,Leukocyte adhesion deficiency,"Childhood, Infancy",Autosomal recessive
663,Mitochondrial DNA-related progressive external ophthalmoplegia,Disease,Disorder,9C82.0,0019016,H49.4,,C0162674,,,,Mitochondrial DNA-related progressive external ophthalmoplegia,"Adolescent, Adult","Mitochondrial inheritance, Not applicable"
137,Congenital disorder of glycosylation,Category,Group of disorders,,0015286,E77.8,,C0282577,D018981,10075892,10307,Congenital disorder of glycosylation,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
220,Denys-Drash syndrome,Disease,Disorder,LD2A.Y,0008682,N04.1,194080,C0950121,D030321,10070179,5576,Denys-Drash syndrome,"Adolescent, Childhood, Infancy, Neonatal",Autosomal dominant
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0012173,E71.3,609016,C3711645,,10072653,6867,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
85,Congenital dyserythropoietic anemia,Clinical group,Group of disorders,3A73,0019403,D64.4,615631,C0002876,D000742,10081457,1999,Congenital dyserythropoietic anemia,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
25,Glutaryl-CoA dehydrogenase deficiency,Disease,Disorder,5C50.E1,0009281,E72.3,231670,C0268595,C536833,10088192,6522,Glutaryl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
177,Rhizomelic chondrodysplasia punctata,Disease,Disorder,LD24.04,0015776,Q77.3,600121,C0282529,D018902,,13160,Rhizomelic chondrodysplasia punctata,"Antenatal, Neonatal",Autosomal recessive
1246,Brachydactyly-nystagmus-cerebellar ataxia syndrome,Malformation syndrome,Disorder,,0007226,Q87.8,113400,C0344467,,,971,Brachydactyly-nystagmus-cerebellar ataxia syndrome,Infancy,Unknown
618,Familial melanoma,Disease,Disorder,QC61.Y,0018961,C43.3,615848,C1512419,,,3460,Familial melanoma,Adult,"Autosomal dominant, Multigenic/multifactorial"
359,Pediatric-onset glaucoma of genetic origin,Category,Group of disorders,,,,,C3711383,C580055,,2486,Pediatric-onset glaucoma of genetic origin,Childhood,"Autosomal dominant, Autosomal recessive"
309,Familial partial epilepsy,Clinical group,Group of disorders,,0017704,,,C5680862,,,2173,,,
213500,Rare ovarian cancer,Category,Group of disorders,2C73,0008170,,,C1140680,D010051,10033128,7295,,,
2364,Glycogen storage disease due to lactate dehydrogenase deficiency,Disease,Disorder,5C51.3,0016527,E74.4,614128,C5575057,,,3159,Glycogen storage disease due to lactate dehydrogenase deficiency,Childhood,
711,Glycogen storage disease due to phosphoglucomutase deficiency,Disease,Disorder,,,,,,,,,,,
818,Smith-Lemli-Opitz syndrome,Malformation syndrome,Disorder,5C52.10,0010035,Q87.1,270400,C0175694,D019082,10078573,5683,Smith-Lemli-Opitz syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
213512,Malignant mixed Müllerian tumor of the ovary,Disease,Disorder,,0003792,C56,,C0392998,,,7296,Malignant mixed Müllerian tumor of the ovary,Adult,
213504,Adenocarcinoma of ovary,Disease,Disorder,,0002752,C56,,C0948216,,10051938,,Adenocarcinoma of ovary,Adult,Not applicable
175,Cartilage-hair hypoplasia,Disease,Disorder,LD27.0Y,0009595,Q78.8,250250,C0220748,C535916,10069596,6996,Cartilage-hair hypoplasia,"Antenatal, Infancy, Neonatal",Autosomal recessive
209,Cutis laxa,Clinical group,Group of disorders,EE41.0,0016175,,,C0010495,D003483,10011692,6227,Cutis laxa,,"Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
42,Medium chain acyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0008721,E71.3,201450,C0220710,C536038,10072654,540,Medium chain acyl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
213564,Rare uterine cancer,Category,Group of disorders,,,,,C5679800,,,,,,
213557,Salivary gland type cancer of the breast,Disease,Disorder,2C60,0100508,C50.8,,C4274421,,,,Salivary gland type cancer of the breast,Adult,
213574,OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri,Disease,Disorder,,,,,,,,,,,
1939,OBSOLETE: Envenomization by Bothrops lanceolatus,Disease,Disorder,,,,,,,,,,,
213569,Rare cancer of corpus uteri,Category,Group of disorders,,,,,C5679801,,,,,,
213524,Hereditary site-specific ovarian cancer syndrome,Disease,Disorder,,,,,C4749652,,,,,,
213517,OBSOLETE: Familial ovarian cancer,Clinical group,Group of disorders,,,,,,,,,,,
2066,Gamma-aminobutyric acid transaminase deficiency,Disease,Disorder,5C59.1,0013166,E72.8,613163,C0342708,C535407,,194,Gamma-aminobutyric acid transaminase deficiency,"Infancy, Neonatal",Autosomal recessive
300,Bifunctional enzyme deficiency,Disease,Disorder,5C57.1,0009855,E71.3,261515,C0342870,,,4539,Bifunctional enzyme deficiency,Infancy,Autosomal recessive
213531,Metaplastic carcinoma of the breast,Disease,Disorder,2C6Y,0006043,C50.8,,C1334708,,10073100,10804,Metaplastic carcinoma of the breast,Adult,
213528,Rare adenocarcinoma of the breast,Disease,Disorder,,0016250,C50.8,,C5680864,,,,Rare adenocarcinoma of the breast,Adult,
3188,Congenital pulmonary veins atresia or stenosis,Clinical group,Group of disorders,LA86.3,0017864,Q26.8,,C5680865,,,4598,Congenital pulmonary veins atresia or stenosis,Childhood,Not applicable
213605,Carcinofibroma of the corpus uteri,Disease,Disorder,2B5D.1,0016258,C54.8,,C4755313,,,,,,
213610,Carcinosarcoma of the corpus uteri,Disease,Disorder,2C76.43,0016259,C54.9,,C1704376,,,12335,,,
3161,Congenital pulmonary sequestration,Malformation syndrome,Disorder,LA75.6,0017843,Q33.2,,C0006288,D001998,10059160,4593,Congenital pulmonary sequestration,Neonatal,
213589,Malignant mixed epithelial and mesenchymal tumor of corpus uteri,Clinical group,Group of disorders,2B5D.1,,,,C5679803,,,,,,
213600,Adenosarcoma of the corpus uteri,Disease,Disorder,2B5D.1,0002878,C54.2,,C4707554,,,,,,
860,Congenitally uncorrected transposition of the great arteries,Morphological anomaly,Disorder,LA85.1,0019443,Q20.3,613854,C3531771,,,5476,Congenitally uncorrected transposition of the great arteries,"Antenatal, Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
213625,Leiomyosarcoma of the corpus uteri,Disease,Disorder,2B58.1,0016262,C54.2,,C0280631,,10046799,,,,
185,Scimitar syndrome,Malformation syndrome,Disorder,LA86.22,0015987,Q26.8,,C0036400,D012587,10051951,,Scimitar syndrome,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Not applicable
213630,Primitive neuroectodermal tumor of the corpus uteri,Disease,Disorder,2B5F.0,0016263,C54.8,,C4707724,,,,,,
3190,Subpulmonary stenosis,Clinical subtype,Subtype of disorder,LA8A.6,0017866,Q24.3,,C3165028,,,5051,,,
213615,Rhabdomyosarcoma of the corpus uteri,Disease,Disorder,2B55.Y,0016260,C54.2,,C4706451,,,,,,
213620,Sarcoma of the corpus uteri,Clinical group,Group of disorders,,0005210,C54.2,,C0338113,,10039497,,,,
3189,Congenital pulmonary valvar stenosis,Morphological anomaly,Disorder,LA8A.00,0017865,Q22.1,265500,C0162164,,10037451,,Congenital pulmonary valvar stenosis,"Childhood, Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
213721,Undifferentiated carcinoma of the corpus uteri,Disease,Disorder,2C76.Y,0016267,C54,,C4707822,,,,,,
1464,Univentricular heart,Morphological anomaly,Disorder,LA89.0,0015451,Q20.4,,C0152424,D000080039,10045545,,Univentricular heart,"Infancy, Neonatal",Not applicable
213726,Serous carcinoma of the corpus uteri,Disease,Disorder,,0016268,C54.1,,C5679804,,,,,,
3400,Aorto-ventricular tunnel,Morphological anomaly,Disorder,LA8A.Y,0018082,Q20.8,,C4023262,D000082903,,,Aorto-ventricular tunnel,"Infancy, Neonatal",Not applicable
213711,Endometrial stromal sarcoma,Disease,Disorder,2B5C,0006745,C54.1,,C0206630,D018203,10048397,6339,,,
213716,Squamous cell carcinoma of the corpus uteri,Disease,Disorder,2C76.Y,0016266,C54.1,,C4707099,,,,Squamous cell carcinoma of the corpus uteri,Adult,
213741,OBSOLETE: Adenoid cystic carcinoma of the corpus uteri,Disease,Disorder,,,,,,,,,,,
213746,Transitional cell carcinoma of the corpus uteri,Disease,Disorder,2C76.Y,0016272,C54.9,,C5191668,,,,Transitional cell carcinoma of the corpus uteri,Adult,
1572,OBSOLETE: Common variable immunodeficiency,Disease,Disorder,,,,,,,,,,,
213731,High-grade neuroendocrine carcinoma of the corpus uteri,Disease,Disorder,,0016269,C54.8,,C4751234,,,,,,
3261,Autoimmune lymphoproliferative syndrome,Disease,Disorder,4A01.22,0017979,D47.9,603909,C1328840,D056735,10069521,8686,Autoimmune lymphoproliferative syndrome,All ages,"Autosomal dominant, Autosomal recessive"
213736,Low-grade neuroendocrine tumor of the corpus uteri,Disease,Disorder,,0016270,C54.8,,C5190779,,,,,,
2849,Perlman syndrome,Malformation syndrome,Disorder,2C90.Y,0009965,Q87.3,267000,C0796113,C536399,10088870,3936,Perlman syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
213772,Adenocarcinoma of the cervix uteri,Disease,Disorder,2C77.1,0005153,C53.8,,C0279672,,10001197,,Adenocarcinoma of the cervix uteri,Adult,Not applicable
213767,Squamous cell carcinoma of the cervix uteri,Disease,Disorder,2C77.0,0006143,C53.8,,C0279671,,10041848,,Squamous cell carcinoma of the cervix uteri,Adult,
213761,Rare cancer of cervix uteri,Category,Group of disorders,,,,,C5679805,,,,,,
213751,Malignant germ cell tumor of the corpus uteri,Disease,Disorder,2C76.Y,0016273,C54.3,,C4750753,,,,Malignant germ cell tumor of the corpus uteri,"Adult, Elderly",
213792,Adenosarcoma of the cervix uteri,Disease,Disorder,2C77.Y,0002876,C53.8,,C1516426,,,,Adenosarcoma of the cervix uteri,"Adolescent, Adult, Elderly",
213787,Carcinosarcoma of the cervix uteri,Disease,Disorder,2C77.Y,0002877,C53,,C1332917,,,,Carcinosarcoma of the cervix uteri,"Adult, Elderly",
213782,Malignant mixed epithelial and mesenchymal tumor of cervix uteri,Clinical group,Group of disorders,,0016277,,,C5679806,,,,,,
213777,High-grade neuroendocrine carcinoma of the cervix uteri,Disease,Disorder,2C77.3,0016276,C53.8,,C4751235,,,,High-grade neuroendocrine carcinoma of the cervix uteri,"Adult, Elderly",
213812,Primitive neuroectodermal tumor of the cervix uteri,Disease,Disorder,2B52.3,0016284,C53.8,,C4707725,,,,Primitive neuroectodermal tumor of the cervix uteri,Adult,
747,Autoimmune pulmonary alveolar proteinosis,Disease,Disorder,CB04.31,0012579,J84.0,610910,C1970472,,,7499,Autoimmune pulmonary alveolar proteinosis,"Adolescent, Adult, Childhood","Multigenic/multifactorial, Not applicable"
213807,Leiomyosarcoma of the cervix uteri,Disease,Disorder,2B58.1,0016283,C53.8,,C4289817,,,,Leiomyosarcoma of the cervix uteri,"Adult, Elderly",
213802,Rhabdomyosarcoma of the cervix uteri,Disease,Disorder,2B55.Y,0016282,C53.1,,C4289809,,,,Rhabdomyosarcoma of the cervix uteri,"Adolescent, Adult, Childhood",
2953,Musculocontractural Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0011142,Q79.6,615539,C1866294,,,8486,Musculocontractural Ehlers-Danlos syndrome,"Infancy, Neonatal",Autosomal recessive
213797,Sarcoma of cervix uteri,Clinical group,Group of disorders,,0016280,,,C5679807,,,,,,
213833,Glassy cell carcinoma of the cervix uteri,Disease,Disorder,2C77.Y,,C53.8,,C4707881,,,,,,
3160,OBSOLETE: Vascular disruption sequence,Malformation syndrome,Disorder,,,,,,,,,,,
213828,Adenoid basal carcinoma of the cervix uteri,Disease,Disorder,2C77.1,0016287,C53.8,,C1516403,,,,,,
213823,Adenoid cystic carcinoma of the cervix uteri,Disease,Disorder,2C77.1,0006133,C53.8,,C1332911,,,,,,
3082,Intellectual disability-polydactyly-uncombable hair syndrome,Malformation syndrome,Disorder,,0017682,Q87.2,,C2931547,C537615,,3141,Intellectual disability-polydactyly-uncombable hair syndrome,Neonatal,
213817,OBSOLETE: Papillary carcinoma of the cervix uteri,Disease,Disorder,,,,,,,,,,,
782,Axenfeld-Rieger syndrome,Malformation syndrome,Disorder,LD2F.1Y,0019187,Q13.8,602482,C3495488,C535679,10059255,5701,Axenfeld-Rieger syndrome,"Infancy, Neonatal",Autosomal dominant
3269,Isolated radio-ulnar synostosis,Morphological anomaly,Disorder,LB90.3,0017985,Q74.0,179300,C5925005,,,10876,Isolated radio-ulnar synostosis,"Childhood, Infancy",Unknown
213837,Malignant germ cell tumor of the cervix uteri,Disease,Disorder,2C77.Y,0016289,C53.8,,C4750752,,,,,,
3259,Syndactyly-polydactyly-ear lobe syndrome,Malformation syndrome,Disorder,,0008517,Q74.8,186350,C5191039,,,5090,Syndactyly-polydactyly-ear lobe syndrome,Neonatal,
216445,Prelingual non-syndromic genetic deafness,Clinical subtype,Subtype of disorder,,,,,,,,,,,
3309,Tetrasomy 5p syndrome,Malformation syndrome,Disorder,,0018028,Q99.8,,C0795813,,,,Tetrasomy 5p syndrome,"Antenatal, Neonatal",
216452,Postlingual non-syndromic genetic deafness,Clinical subtype,Subtype of disorder,,,,,,,,,,,
216675,Transposition of the great arteries,Category,Group of disorders,LA85.1,0000153,,,C0040761,D014188,10044443,7795,Transposition of the great arteries,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
3379,Distal duplication 17q syndrome,Malformation syndrome,Disorder,,0018069,Q92.3,,C4707663,C536579,,,Distal duplication 17q syndrome,Neonatal,
216694,Congenitally corrected transposition of the great arteries,Morphological anomaly,Disorder,LA85.00,0016301,Q20.5,,C0344616,D000080041,10011120,1544,Congenitally corrected transposition of the great arteries,All ages,Not applicable
216718,Isolated congenitally uncorrected transposition of the great arteries,Clinical subtype,Subtype of disorder,,0016302,Q20.3,,C5679810,,,,Isolated congenitally uncorrected transposition of the great arteries,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
216729,Congenitally uncorrected transposition of the great arteries with cardiac malformation,Clinical subtype,Subtype of disorder,,0016303,Q20.3,,C5679811,,,,Congenitally uncorrected transposition of the great arteries with cardiac malformation,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
3411,Double uterus-hemivagina-renal agenesis syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008636,Q51.2,192050,C4302552,,10083351,1910,Double uterus-hemivagina-renal agenesis syndrome,"Antenatal, Infancy, Neonatal",Unknown
882,Tyrosinemia type 1,Disease,Disorder,5C50.11,0010161,E70.2,276700,C0268490,,10069462,2658,Tyrosinemia type 1,All ages,Autosomal recessive
216796,Osteogenesis imperfecta type 1,Clinical subtype,Subtype of disorder,LD24.K0,0008146,Q78.0,166230,C0023931,,,8694,Osteogenesis imperfecta type 1,Childhood,Autosomal dominant
903,Von Willebrand disease,Disease,Disorder,3B12,0019565,D68.0,613554,C0042974,D014842,10047715,7867,Von Willebrand disease,All ages,"Autosomal dominant, Autosomal recessive"
216804,Osteogenesis imperfecta type 2,Clinical subtype,Subtype of disorder,LD24.K0,0008147,Q78.0,610915,C0268358,,,10142,Osteogenesis imperfecta type 2,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
216812,Osteogenesis imperfecta type 3,Clinical subtype,Subtype of disorder,LD24.K0,0009804,Q78.0,616229,C0268362,C536044,,8695,Osteogenesis imperfecta type 3,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
995,X-linked fetal akinesia syndrome,Malformation syndrome,Disorder,,,,,C1848171,,,,,,
216820,Osteogenesis imperfecta type 4,Clinical subtype,Subtype of disorder,LD24.K0,0008148,Q78.0,616507,C0268363,C000631847,,8696,Osteogenesis imperfecta type 4,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
216828,Osteogenesis imperfecta type 5,Clinical subtype,Subtype of disorder,LD24.K0,0012591,Q78.0,610967,C2931093,C567042,,8699,Osteogenesis imperfecta type 5,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
3474,CHIME syndrome,Malformation syndrome,Disorder,LD27.0Y,0010221,Q87.8,280000,C1848392,C536729,,310,CHIME syndrome,Childhood,Autosomal recessive
216866,Classic pantothenate kinase-associated neurodegeneration,Clinical subtype,Subtype of disorder,5C64.10,0016304,G23.0,234200,C5679812,,,,Classic pantothenate kinase-associated neurodegeneration,"Infancy, Neonatal",Autosomal recessive
216873,Atypical pantothenate kinase-associated neurodegeneration,Clinical subtype,Subtype of disorder,5C64.10,0016305,G23.0,234200,C5568621,,,,Atypical pantothenate kinase-associated neurodegeneration,Childhood,Autosomal recessive
1260,OBSOLETE: Sino-auricular heart block,Disease,Disorder,,,,,,,,,,,
216972,"Niemann-Pick disease type C, severe perinatal form",Clinical subtype,Subtype of disorder,5C56.0Y,0016306,E75.2,,C5680866,,,,"Niemann-Pick disease type C, severe perinatal form","Antenatal, Neonatal",Autosomal recessive
1441,Ring chromosome 17 syndrome,Malformation syndrome,Disorder,LD7Y,0015433,Q93.2,,C0795863,C538046,,4724,Ring chromosome 17 syndrome,Childhood,"Not applicable, Unknown"
216978,"Niemann-Pick disease type C, late infantile neurologic onset",Clinical subtype,Subtype of disorder,5C56.0Y,0016308,E75.2,,C5680867,,,,"Niemann-Pick disease type C, late infantile neurologic onset",Childhood,Autosomal recessive
361,Familial glucocorticoid deficiency,Disease,Disorder,5A74.Y,0008733,E27.1,617825,C4054695,,10082603,2498,Familial glucocorticoid deficiency,"Childhood, Infancy",Autosomal recessive
216975,"Niemann-Pick disease type C, severe early infantile neurologic onset",Clinical subtype,Subtype of disorder,5C56.0Y,0016307,E75.2,,C5680868,,,,"Niemann-Pick disease type C, severe early infantile neurologic onset","Infancy, Neonatal",Autosomal recessive
216986,"Niemann-Pick disease type C, adult neurologic onset",Clinical subtype,Subtype of disorder,5C56.0Y,0016310,E75.2,,C5680869,,,,"Niemann-Pick disease type C, adult neurologic onset",Adult,Autosomal recessive
1787,"Acrofacial dysostosis, Palagonia type",Malformation syndrome,Disorder,LD25.2,0011154,Q75.4,601829,C1866168,C538185,,499,"Acrofacial dysostosis, Palagonia type","Infancy, Neonatal",Unknown
216981,"Niemann-Pick disease type C, juvenile neurologic onset",Clinical subtype,Subtype of disorder,5C56.0Y,0016309,E75.2,,C5679813,,,,"Niemann-Pick disease type C, juvenile neurologic onset",Adolescent,Autosomal recessive
1863,NON RARE IN EUROPE: Trochlear dysplasia,Morphological anomaly,Disorder,,,,,,,,,,,
217008,Segmental venous malformation,Malformation syndrome,Disorder,LC51,0016311,Q27.4,,C5679814,,,13063,Segmental venous malformation,"Childhood, Neonatal",Not applicable
216989,"Autosomal dominant dystrophic epidermolysis bullosa, Pasini type",Clinical subtype,Subtype of disorder,,,,,C0432322,,,,,,
217017,Zechi-Ceide syndrome,Malformation syndrome,Disorder,,0013036,Q87.8,612916,C2752047,C567865,,10582,Zechi-Ceide syndrome,"Infancy, Neonatal",Autosomal recessive
217012,Spinocerebellar ataxia type 31,Disease,Disorder,8A03.16,0007296,G11.8,117210,C1861736,C566146,,9975,Spinocerebellar ataxia type 31,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
2088,Fanconi-Bickel syndrome,Disease,Disorder,5C51.3,0009216,E74.0,227810,C3495427,,,2268,Fanconi-Bickel syndrome,"Infancy, Neonatal",Autosomal recessive
217026,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",Malformation syndrome,Disorder,LD2F.1Y,0013053,Q87.8,612946,C2751878,C567850,,,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type","Infancy, Neonatal",Unknown
217023,OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly,Etiological subtype,Subtype of disorder,,,,,,,,,,,
217034,Male infertility with normal virilization due to meiosis defect,Disease,Disorder,,,,,,,,,,,
217031,NON RARE IN EUROPE: Obesity due to MC3R deficiency,Disease,Disorder,,,,,,,,,,,
217049,OBSOLETE: Rare non-syndromic cataract,Category,Group of disorders,,,,,,,,,,,
217046,OBSOLETE: Autosomal recessive childhood-onset cortical cataract,Clinical subtype,Subtype of disorder,,,,,,,,,,,
217266,BNAR syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012165,Q87.8,608980,C2750433,C567672,,10595,BNAR syndrome,"Antenatal, Neonatal",Autosomal recessive
179,Birdshot chorioretinopathy,Disease,Disorder,9B65.0,0011599,H30.1,605808,C1853959,D000080365,10072959,5926,Birdshot chorioretinopathy,"Adult, Elderly",Unknown
217260,Progressive multifocal leukoencephalopathy,Disease,Disorder,8A45.02,0016318,A81.2,,C0023524,D007968,10036807,7468,Progressive multifocal leukoencephalopathy,All ages,Not applicable
292,Congenital enterovirus infection,Disease,Disorder,KA62.5,0017375,P35.8,,C4274223,,,2130,Congenital enterovirus infection,"Antenatal, Neonatal",Not applicable
217253,NMDA receptor encephalitis,Disease,Disorder,,0021081,G13.1,,C5700343,D060426,,,NMDA receptor encephalitis,All ages,Not applicable
767,Polyarteritis nodosa,Disease,Disorder,4A44.4,0019170,M30.0,,C0031036,D010488,10036024,7360,Polyarteritis nodosa,All ages,Not applicable
2584,Classic mycosis fungoides,Disease,Disorder,,0009691,C84.0,254400,C4707404,,,3863,Classic mycosis fungoides,Adult,"Multigenic/multifactorial, Not applicable"
217093,"Mucopolysaccharidosis type 2, attenuated form",Clinical subtype,Subtype of disorder,5C56.31,0016316,E76.1,309900,C5679815,,,,"Mucopolysaccharidosis type 2, attenuated form",Childhood,X-linked recessive
3162,Sézary syndrome,Disease,Disorder,2B02,0017844,C84.1,,C0036920,D012751,10040493,7629,Sézary syndrome,Adult,"Multigenic/multifactorial, Not applicable"
217085,"Mucopolysaccharidosis type 2, severe form",Clinical subtype,Subtype of disorder,5C56.31,0016315,E76.1,309900,C0342841,,,,"Mucopolysaccharidosis type 2, severe form",Childhood,X-linked recessive
217080,Pulmonary fungal infections in patients deemed at risk,Particular clinical situation in a disease or syndrome,Disorder,1F2Y,,B48.7,,C5680870,,,,Pulmonary fungal infections in patients deemed at risk,All ages,Not applicable
217074,Rare carcinoma of pancreas,Category,Group of disorders,,,,,C5680420,D010190,,,Rare carcinoma of pancreas,Adult,Not applicable
2330,Kasabach-Merritt phenomenon,Particular clinical situation in a disease or syndrome,Disorder,KA8Y,0007708,D18.0,141000,C0221025,D059885,10058423,70,Kasabach-Merritt phenomenon,"Infancy, Neonatal",Not applicable
217071,Renal cell carcinoma,Clinical group,Group of disorders,2C90.0,0005086,,,C0007134,D002292,10067946,13215,Renal cell carcinoma,Adult,Not applicable
217067,Pouchitis,Particular clinical situation in a disease or syndrome,Disorder,DE2Y,0005312,K91.8,,C0376620,D019449,10036463,,Pouchitis,All ages,Not applicable
2700,Noma,Disease,Disorder,DA0C.31,0017124,A69.0,,C0028271,D009625,10029502,4001,Noma,Childhood,
217064,5-fluorouracil poisoning,Particular clinical situation in a disease or syndrome,Disorder,NE60,0016312,T45.1,,C0274576,,,,5-fluorouracil poisoning,"Adult, Elderly",Not applicable
1451,CINCA syndrome,Disease,Disorder,4A60.1,0011776,E85.0,607115,C0409818,,10064568,1356,CINCA syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
217059,Isolated nail clubbing,Morphological anomaly,Disorder,LB90.5,0007343,Q68.1,119900,C0345408,,,,Isolated nail clubbing,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
217055,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,Disease,Disorder,8C20.2,0012014,G60.0,608340,C4750774,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,Childhood,Autosomal recessive
556,Malakoplakia,Disease,Disorder,GC01.Y,0018913,N36.8,,C0024525,D008287,10080344,6960,Malakoplakia,Adult,Unknown
2778,OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis,Clinical subtype,Subtype of disorder,,,,,,,,,,,
217052,OBSOLETE: Infantile non-syndromic cataract,Disease,Disorder,,,,,,,,,,,
217335,RIN2 syndrome,Malformation syndrome,Disorder,LD28.2,0013115,Q82.8,613075,C2751321,C567770,,,RIN2 syndrome,"Infancy, Neonatal",Autosomal recessive
2745,Opitz GBBB syndrome,Malformation syndrome,Disorder,,0017138,Q87.8,300000,C2936904,,,193,Opitz GBBB syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
217340,17q21.31 microduplication syndrome,Malformation syndrome,Disorder,LD41.G0,0013298,Q92.3,613533,C4274345,,,,17q21.31 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
3260,Idiopathic hypereosinophilic syndrome,Disease,Disorder,4B03.Z,0011895,D47.5,607685,C0206141,,,,Idiopathic hypereosinophilic syndrome,Adult,Not applicable
217315,Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome,Malformation syndrome,Disorder,,,,,C1854061,,,,,,
217330,REN-related autosomal dominant tubulointerstitial kidney disease,Clinical subtype,Subtype of disorder,,0013128,Q61.5,613092,C4303080,,,13461,REN-related autosomal dominant tubulointerstitial kidney disease,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
1648,NON RARE IN EUROPE: Dementia with Lewy body,Disease,Disorder,,,,,,,,,,,
2086,Optic pathway glioma,Disease,Disorder,2A02.0Y,0016167,D33.3,,C0796418,,10073338,4107,Optic pathway glioma,All ages,Not applicable
2566,Chronic Epstein-Barr virus infection syndrome,Disease,Disorder,1D81.0,0009194,B27.0,226990,C4751209,,,9534,Chronic Epstein-Barr virus infection syndrome,"Adolescent, Adult, Childhood",Unknown
3385,African trypanosomiasis,Disease,Disorder,1F51,0005459,B56.9,,C0041228,D014353,10001461,7826,African trypanosomiasis,All ages,Not applicable
1560,Cysticercosis,Disease,Disorder,1F70.1,0015484,B69.9,,C0010678,D003551,10011775,8194,Cysticercosis,All ages,Not applicable
566,Congenital microcoria,Malformation syndrome,Disorder,LA11.Y,0007989,Q13.8,156600,C1303009,C537550,,3635,Congenital microcoria,"Infancy, Neonatal",Autosomal dominant
344,OBSOLETE: Arbovirus fever,Category,Group of disorders,,,,,,,,,,,
341,Viral hemorrhagic fever,Category,Group of disorders,,0018087,,,C0019104,D006482,,5494,Viral hemorrhagic fever,All ages,Not applicable
340,Hemorrhagic fever-renal syndrome,Disease,Disorder,1D62.0,0018081,N08.0*,,C2930957,C535630,10023484,,Hemorrhagic fever-renal syndrome,All ages,Not applicable
2552,Microsporidiosis,Disease,Disorder,1F58,0005846,B60.8,,C0085407,D016881,10053982,3655,Microsporidiosis,All ages,Not applicable
1171,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Disease,Disorder,,0011038,G11.1,601338,C1832466,C535351,,1188,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,"Infancy, Neonatal","Autosomal dominant, Mitochondrial inheritance"
1463,Triatrial heart,Clinical group,Group of disorders,,0015450,Q24.2,,C0009995,D003310,10010972,6194,,,
217560,Neuroendocrine cell hyperplasia of infancy,Disease,Disorder,CB04.7,0016322,J84.8,,C3161105,,10072968,,Neuroendocrine cell hyperplasia of infancy,"Infancy, Neonatal",Not applicable
217557,Pulmonary interstitial glycogenosis,Disease,Disorder,CB04.Y,0016321,P22.8,,C3161106,,,,Pulmonary interstitial glycogenosis,"Infancy, Neonatal",Not applicable
1686,Cardiac diverticulum,Morphological anomaly,Disorder,LA88.Y,0015677,Q24.8,,C0546315,,,1094,Cardiac diverticulum,"Infancy, Neonatal",Not applicable
217566,Chronic respiratory distress with surfactant metabolism deficiency,Disease,Disorder,CB04.2,0016323,J84.8,610913,C5190853,,,,Chronic respiratory distress with surfactant metabolism deficiency,All ages,Autosomal dominant
217563,Neonatal acute respiratory distress syndrome,Disease,Disorder,CB04.2,0009929,P28.0,265120,C1968602,C566882,,,Neonatal acute respiratory distress syndrome,Neonatal,Autosomal recessive
1864,OBSOLETE: Congenital valvular dysplasia,Morphological anomaly,Disorder,,,,,,,,,,,
217410,OBSOLETE: Circumscribed lymphatic malformation,Clinical subtype,Subtype of disorder,,,,,,,,,,,
217407,Hereditary hypotrichosis with recurrent skin vesicles,Disease,Disorder,,0013136,Q84.2,613102,C2751292,C567751,,,Hereditary hypotrichosis with recurrent skin vesicles,"Infancy, Neonatal",Autosomal recessive
1456,Middle aortic syndrome,Morphological anomaly,Disorder,LA8B.21,0015446,Q25.1,,C3496579,,,,Middle aortic syndrome,Childhood,Not applicable
217467,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,Disease,Disorder,3B61.0Y,0013143,D68.5,613116,C5190887,,,,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,,Autosomal dominant
217454,Rare hereditary thrombophilia,Clinical group,Group of disorders,,,,,C5680871,,,,,,
1457,Coarctation of aorta,Morphological anomaly,Disorder,LA8B.21,0007345,Q25.1,120000,C0003492,D001017,10009807,5828,Coarctation of aorta,"Adolescent, Adult, Childhood, Infancy, Neonatal",Not applicable
217390,Combined immunodeficiency due to DOCK8 deficiency,Disease,Disorder,4A01.1Y,0009478,D81.1,243700,C5679816,,,2816,Combined immunodeficiency due to DOCK8 deficiency,"Infancy, Neonatal",Autosomal recessive
1132,Aortic arch defects,Category,Group of disorders,,0015236,,,C5680872,,,741,Aortic arch defects,Childhood,Not applicable
217385,17p13.3 microduplication syndrome,Malformation syndrome,Disorder,LD41.G1,0013182,Q92.3,613215,C4304641,,,,17p13.3 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
1138,Abnormal origin of the pulmonary artery,Clinical group,Group of disorders,LA8B.1,0015239,,,C0265912,,,,,,
1207,Pulmonary atresia with ventricular septal defect,Morphological anomaly,Disorder,LA88.21,0008343,Q25.5,178370,C0344976,C562833,,4588,,,
217399,Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation,Disease,Disorder,,0016319,G60.8,,C5679817,,,,Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation,"Infancy, Neonatal",Unknown
217396,Progressive polyneuropathy with bilateral striatal necrosis,Disease,Disorder,,13382,E88.8,613710,C3150973,,,,Progressive polyneuropathy with bilateral striatal necrosis,Childhood,Autosomal recessive
982,Pulmonary valve agenesis,Clinical group,Group of disorders,,0020064,,,C0265831,,,4597,Pulmonary valve agenesis,"Infancy, Neonatal",Not applicable
217371,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,Disease,Disorder,5C53.23,0013111,E88.8,613070,C4304057,,,10593,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,"Infancy, Neonatal",Autosomal recessive
217346,19q13.11 microdeletion syndrome,Malformation syndrome,Disorder,LD44.K0,0013090,Q93.5,613026,C4304577,,,10592,19q13.11 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
980,Absence of the pulmonary artery,Morphological anomaly,Disorder,LA8B.1,0020007,Q25.7,,C0265905,,,,Absence of the pulmonary artery,All ages,Not applicable
217382,Neurodegenerative syndrome due to cerebral folate transport deficiency,Disease,Disorder,5C63.1,0013110,G31.8,613068,C2751584,C567791,10088217,10594,Neurodegenerative syndrome due to cerebral folate transport deficiency,Childhood,Autosomal recessive
1054,Aneurysm of sinus of Valsalva,Morphological anomaly,Disorder,LA8A.4,0015197,Q25.4,,C2239253,,,670,Aneurysm of sinus of Valsalva,Adult,Unknown
1081,Coronary artery congenital malformation,Category,Group of disorders,LA8C,0015203,Q24.5,,C0158623,,10061060,1534,,,
217377,Microduplication Xp11.22p11.23 syndrome,Malformation syndrome,Disorder,LD51,0010428,Q99.8,300801,C4303068,,,12766,Microduplication Xp11.22p11.23 syndrome,"Infancy, Neonatal","Not applicable, X-linked dominant"
3091,Congenital systemic veins anomaly,Category,Group of disorders,,,,,C5680873,,,,,,
217613,Mitochondrial disease with dilated cardiomyopathy,Category,Group of disorders,,,,,C5680874,,,,,,
217616,Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy,Category,Group of disorders,,,,,C5680875,,,,,,
217619,Syndrome associated with dilated cardiomyopathy,Category,Group of disorders,,,,,C5680876,,,,,,
3093,Congenital aortic valve stenosis,Morphological anomaly,Disorder,LA8A.20,0017735,Q23.0,,C0152417,,10010371,,Congenital aortic valve stenosis,"Infancy, Neonatal",
217622,Sensorineural deafness with dilated cardiomyopathy,Disease,Disorder,BC43.00,0011541,I42.0,605362,C4510220,,,,Sensorineural deafness with dilated cardiomyopathy,Childhood,Autosomal dominant
3092,Fixed subaortic stenosis,Morphological anomaly,Disorder,LA8A.5,0017727,Q24.4,271950,C0265853,,,,Fixed subaortic stenosis,Childhood,No data available
217601,OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training,Disease,Disorder,,,,,,,,,,,
217604,Dilated cardiomyopathy,Category,Group of disorders,BC43.0,0005021,I42.0,,C0007193,D002311,10056419,221,Dilated cardiomyopathy,All ages,
2299,Aortic arch interruption,Morphological anomaly,Disorder,LA8B.22,0009010,Q25.4,,C0152419,,10022599,740,Aortic arch interruption,"Infancy, Neonatal",Not applicable
3427,Double outlet left ventricle,Morphological anomaly,Disorder,LA85.3,0018090,Q20.2,,C0265809,,10080133,1907,Double outlet left ventricle,"Infancy, Neonatal",Not applicable
217607,Familial dilated cardiomyopathy,Category,Group of disorders,,0016333,,,C0340427,C536231,10088172,,,,
217610,Neuromuscular disease with dilated cardiomyopathy,Category,Group of disorders,,,,,C5680878,,,,,,
3426,Double outlet right ventricle,Morphological anomaly,Disorder,LA85.2,0018089,Q20.1,217095,C0013069,D004310,10013611,1908,Double outlet right ventricle,"Infancy, Neonatal",Multigenic/multifactorial
439,Isolated right ventricular hypoplasia,Morphological anomaly,Disorder,LA88.Y,0010179,Q22.6,277200,C1848587,C535682,,4721,Isolated right ventricular hypoplasia,"Infancy, Neonatal","Autosomal recessive, Not applicable"
217587,Mitochondrial disease with hypertrophic cardiomyopathy,Category,Group of disorders,,,,,C5680879,,,,,,
217591,Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy,Category,Group of disorders,,,,,C5680880,,,,,,
422,Idiopathic/heritable pulmonary arterial hypertension,Disease,Disorder,BB01.0,0008347,I27.0,615344,C5679820,,,,Idiopathic/heritable pulmonary arterial hypertension,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
217595,Syndrome associated with hypertrophic cardiomyopathy,Category,Group of disorders,,,,,C5680881,,,,,,
2447,Congenital mitral malformation,Category,Group of disorders,,0016582,,,C5680882,,,1495,,,
217598,Non-familial hypertrophic cardiomyopathy,Category,Group of disorders,,0016330,,,C5680883,,,,,,
2038,Pulmonary arteriovenous malformation,Morphological anomaly,Disorder,LA90.5,0009930,Q25.7,265140,C0155675,,10037332,4584,Pulmonary arteriovenous malformation,Infancy,"Multigenic/multifactorial, Unknown"
217569,Rare hypertrophic cardiomyopathy,Category,Group of disorders,,,,,C5680884,D002312,10020871,,,,
2037,Congenital aortopulmonary window,Morphological anomaly,Disorder,LA8B.0,0016077,Q21.4,,C0003516,C537782,,738,,,
217572,Glycogen storage disease with hypertrophic cardiomyopathy,Category,Group of disorders,,,,,C5397268,,,,,,
2041,Coronary arterial fistula,Morphological anomaly,Disorder,LA8C.2,0016081,Q24.5,,C0265898,,10069441,1533,Coronary arterial fistula,All ages,Not applicable
217581,Lysosomal disease with hypertrophic cardiomyopathy,Category,Group of disorders,,,,,C5397275,,,,,,
2039,OBSOLETE: Congenital systemic arteriovenous fistula,Morphological anomaly,Disorder,,,,,,,,,,,
282,Frontotemporal dementia,Clinical group,Group of disorders,6D83,0017276,,607485,C0338451,D057180,10068968,8436,Frontotemporal dementia,Adult,Autosomal dominant
217720,Non-familial restrictive cardiomyopathy,Category,Group of disorders,BC43.20,0016345,,,C5680885,,,,,,
331,Congenital factor XIII deficiency,Disease,Disorder,3B14.Z,0018029,D68.2,613235,C0015530,D005177,10016083,10766,Congenital factor XIII deficiency,All ages,"Autosomal recessive, Not applicable"
159,Carnitine-acylcarnitine translocase deficiency,Disease,Disorder,5C52.00,0008918,E71.3,212138,C0342791,C562812,10078729,1123,Carnitine-acylcarnitine translocase deficiency,"Infancy, Neonatal",Autosomal recessive
542,Primary cutaneous lymphoma,Category,Group of disorders,,0018898,,,C1302772,,10051708,,,,
707,Plague,Disease,Disorder,1B93,0019095,A20.9,,C0032064,D010930,10035148,,Plague,All ages,
217638,Lysosomal disease with restrictive cardiomyopathy,Category,Group of disorders,,,,,C5680886,,,,,,
335,Congenital fibrinogen deficiency,Disease,Disorder,3B14.0,0018060,D68.2,616004,C2062367,,,2320,Congenital fibrinogen deficiency,All ages,"Autosomal dominant, Autosomal recessive"
217635,Familial restrictive cardiomyopathy,Category,Group of disorders,,0016340,,,C0340429,,,,,,
217632,Restrictive cardiomyopathy,Category,Group of disorders,BC43.2,0005201,,,C0007196,D002313,10038748,,,,
217629,Non-familial dilated cardiomyopathy,Category,Group of disorders,BC43.01,0016338,,,C5681849,,,,,,
217678,Unclassified cardiomyopathy,Category,Group of disorders,,,,,C4682345,,,,,,
79,Congenital alpha2-antiplasmin deficiency,Disease,Disorder,3B50.0,0009883,D68.8,262850,C4274304,,,731,Congenital alpha2-antiplasmin deficiency,Childhood,Autosomal recessive
217656,Inherited isolated arrhythmogenic cardiomyopathy,Disease,Disorder,BC43.6,0016342,I42.8,604401,C4274968,,,,Inherited isolated arrhythmogenic cardiomyopathy,No data available,Autosomal dominant
1070,Anisakiasis,Disease,Disorder,1F61,0015200,B81.0,,C0162576,D017129,10002533,693,Anisakiasis,"Adolescent, Adult, Childhood, Elderly",
1467,Cogan syndrome,Disease,Disorder,4A44.Y,0015453,H16.3,,C0271270,D055952,10056667,1421,Cogan syndrome,"Adolescent, Adult, Childhood",Not applicable
2157,Histidinemia,Disease,Disorder,5C50.20,0009345,E70.8,235800,C0220992,C538320,,6661,Histidinemia,"Infancy, Neonatal",Autosomal recessive
220402,Limited cutaneous systemic sclerosis,Clinical subtype,Subtype of disorder,,0016358,M34.1,181750,C5574860,,,1053,Limited cutaneous systemic sclerosis,Adult,"Multigenic/multifactorial, Not applicable"
3124,Saccharopinuria,Disease,Disorder,5C50.4,0010005,E72.3,268700,C0268556,C537218,,314,Saccharopinuria,"Infancy, Neonatal",Autosomal recessive
220407,Limited systemic sclerosis,Clinical subtype,Subtype of disorder,4A42.2,0016359,M34.0,,C0748540,,,9749,Limited systemic sclerosis,Adult,Not applicable
220386,Semilobar holoprosencephaly,Clinical subtype,Subtype of disorder,LA05.2,,Q04.2,610829,C0751617,,,,Semilobar holoprosencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
2203,Hyperlysinemia,Disease,Disorder,5C50.4,0009388,E72.3,238710,C0268553,D020167,10081311,2828,Hyperlysinemia,All ages,Autosomal recessive
220393,Diffuse cutaneous systemic sclerosis,Clinical subtype,Subtype of disorder,4A42.1,0016356,M34.0,,C1258104,,,9751,Diffuse cutaneous systemic sclerosis,Adult,"Multigenic/multifactorial, Not applicable"
332,Congenital intrinsic factor deficiency,Disease,Disorder,3A01.0,0009852,D51.0,261000,C1394891,C563242,10070440,3024,Congenital intrinsic factor deficiency,Childhood,"Autosomal recessive, Not applicable"
220448,Macrothrombocytopenia with mitral valve insufficiency,Disease,Disorder,3B62.01,0016360,D69.4,,C4749648,,,,Macrothrombocytopenia with mitral valve insufficiency,Childhood,
2967,Transcobalamin I deficiency,Disease,Disorder,5C63.0,0008659,E53.8,193090,C0342700,C562798,,,Transcobalamin I deficiency,"Adult, Elderly",
220452,Isolated hereditary giant platelet disorder,Category,Group of disorders,3B62.01,,,,C5679822,,,,,,
220436,Quebec platelet disorder,Disease,Disorder,3B62.00,0011136,D69.1,601709,C1866423,C536260,,8345,Quebec platelet disorder,Adult,Autosomal dominant
2168,Homocarnosinosis,Disease,Disorder,,,,236130,C3495554,C535328,,2730,,,
2195,Dicarboxylic aminoaciduria,Disease,Disorder,5C60.Y,0009110,E72.0,222730,C1857253,C536171,,1855,Dicarboxylic aminoaciduria,"Infancy, Neonatal",Autosomal recessive
220443,Bleeding diathesis due to thromboxane synthesis deficiency,Disease,Disorder,3B62.1,0800446,D69.8,614009,C5190857,,,,,,
218436,Rare cardiac rhythm disease,Category,Group of disorders,,,,,C5680887,,,,,,
218439,Non-genetic cardiac rhythm disease,Category,Group of disorders,,,,,C5680888,,,,,,
218432,OBSOLETE: Familial restrictive cardiomyopathy type 3,Etiological subtype,Subtype of disorder,,,,,,,,,,,
2170,Methylcobalamin deficiency type cblG,Clinical subtype,Subtype of disorder,5C50.B,0009609,E72.1,250940,C1855128,C565394,,3577,Methylcobalamin deficiency type cblG,All ages,Autosomal recessive
220295,Xeroderma pigmentosum-Cockayne syndrome complex,Disease,Disorder,LD2B,0016354,Q87.1,610651,C4304411,,,,Xeroderma pigmentosum-Cockayne syndrome complex,"Infancy, Neonatal",Autosomal recessive
414,Gyrate atrophy of choroid and retina,Disease,Disorder,5C50.9,0009796,E72.4,258870,C0018425,D015799,,6556,Gyrate atrophy of choroid and retina,Childhood,Autosomal recessive
622,Homocystinuria without methylmalonic aciduria,Disease,Disorder,5C50.B,0018964,E72.1,236270,C4303479,,,,Homocystinuria without methylmalonic aciduria,All ages,Autosomal recessive
927,Hyperammonemia due to N-acetylglutamate synthase deficiency,Disease,Disorder,5C50.AY,0009377,E72.2,237310,C0268543,C536109,10071092,7158,Hyperammonemia due to N-acetylglutamate synthase deficiency,All ages,Autosomal recessive
3402,Transient tyrosinemia of the newborn,Disease,Disorder,5C50.1Y,0018083,P74.5,,C0268485,,,5388,Transient tyrosinemia of the newborn,Neonatal,
34,Pipecolic acidemia,Disease,Disorder,,,,,C0282526,,,,,,
2880,Phosphoenolpyruvate carboxykinase deficiency,Disease,Disorder,5C53.0Y,0017320,E74.4,261680,C0268194,C536654,,,Phosphoenolpyruvate carboxykinase deficiency,"Infancy, Neonatal","Autosomal recessive, Mitochondrial inheritance"
941,D-glyceric aciduria,Disease,Disorder,5C50.7Y,0009070,E74.8,220120,C0342765,C535767,,234,D-glyceric aciduria,All ages,Autosomal recessive
220465,Laron syndrome with immunodeficiency,Disease,Disorder,5A61.0,,E34.3,245590,C4510411,,,,Laron syndrome with immunodeficiency,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
220460,Attenuated familial adenomatous polyposis,Disease,Disorder,2B90.Y,0016362,D12.6,175100,C2674616,C538265,,8532,Attenuated familial adenomatous polyposis,Adult,"Autosomal dominant, Autosomal recessive"
220489,Rare hereditary hemochromatosis,Category,Group of disorders,,,,,,,,,Rare hereditary hemochromatosis,All ages,"Autosomal dominant, Autosomal recessive"
19,2-hydroxyglutaric aciduria,Clinical group,Group of disorders,,0016001,,,C2746066,C535306,10078971,10761,2-hydroxyglutaric aciduria,Childhood,"Autosomal dominant, Autosomal recessive"
2843,Pentosuria,Disease,Disorder,5C51.0,0009846,E74.8,260800,C0268162,C536652,10064170,418,Pentosuria,"Infancy, Neonatal",Autosomal recessive
220497,Joubert syndrome with renal defect,Malformation syndrome,Disorder,LD20.0Y,0012308,Q61.5,614424,C4274117,,,10169,Joubert syndrome with renal defect,"Infancy, Neonatal",Autosomal recessive
212,Cystathioninuria,Disease,Disorder,5C50.B,0009058,E72.1,219500,C0220993,C535408,,2428,Cystathioninuria,All ages,Autosomal recessive
220493,Joubert syndrome with ocular defect,Malformation syndrome,Disorder,LD20.0Y,0016364,Q04.3,617121,C4274118,,,10168,Joubert syndrome with ocular defect,"Infancy, Neonatal",Autosomal recessive
470,Lysinuric protein intolerance,Disease,Disorder,5C60.Y,0009109,E72.0,222700,C0268647,C562687,10058300,3335,Lysinuric protein intolerance,"Infancy, Neonatal",Autosomal recessive
1032,OBSOLETE: Hyperdibasic aminoaciduria type 1,Disease,Disorder,,,,,,,,,,,
221074,Marchiafava-Bignami disease,Disease,Disorder,8A46,0016370,G37.1,,C0238265,D054319,10026828,6971,Marchiafava-Bignami disease,Adult,
221078,Combined hyperactive dysfunction syndrome of the cranial nerves,Disease,Disorder,8A85,0016371,G52.7,,C5190851,,,,,,
145,Hereditary breast and/or ovarian cancer syndrome,Disease,Disorder,2C65,0003582,C56,614291,C0677776,D061325,,,Hereditary breast and/or ovarian cancer syndrome,"Adult, Elderly",Autosomal dominant
2965,Prolactinoma,Disease,Disorder,XH1QS0,0010911,D35.2,,C0033375,D015175,10036832,4508,Prolactinoma,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
221083,Hemifacial spasm,Disease,Disorder,8B88.2,,G51.3,,C1841639,D019569,,,Hemifacial spasm,"Adult, Elderly",
221091,Trigeminal neuralgia,Disease,Disorder,8B82.0,0008599,G50.0,190400,C0040997,D014277,10044652,7805,Trigeminal neuralgia,"Adolescent, Adult, Elderly",Not applicable
538,Lymphangioleiomyomatosis,Disease,Disorder,CB07,0006277,D48.7,606690,C0751674,D018192,10049459,3319,Lymphangioleiomyomatosis,Adult,Not applicable
221098,Glossopharyngeal neuralgia,Disease,Disorder,8B87,0016372,G52.1,,C0154731,D020435,10018391,6519,Glossopharyngeal neuralgia,"Adolescent, Adult, Elderly",
2942,Postpoliomyelitis syndrome,Disease,Disorder,8B62,0017416,G14,,C0080040,D016262,10036239,4454,Postpoliomyelitis syndrome,"Adolescent, Adult, Elderly",Not applicable
221106,OBSOLETE: Isolated facial myokymia,Disease,Disorder,,,,,,,,,,,
1578,Pterin-4 alpha-carbinolamine dehydratase deficiency,Clinical subtype,Subtype of disorder,5C59.01,0009908,E70.1,264070,C1849700,C538382,,2843,Pterin-4 alpha-carbinolamine dehydratase deficiency,Neonatal,Autosomal recessive
221109,Cranial neuralgia,Clinical group,Group of disorders,,0016374,,,C0010269,,,,,,
221114,Acquired peripheral movement disorder,Category,Group of disorders,,,,,C5680889,,,,,,
3208,Isolated succinate-CoQ reductase deficiency,Disease,Disorder,5C53.2Y,,G71.3,252011,C1855008,C565375,,5053,Isolated succinate-CoQ reductase deficiency,"Infancy, Neonatal",Autosomal recessive
221008,Rothmund-Thomson syndrome type 1,Clinical subtype,Subtype of disorder,LD2B,0016368,Q82.8,618625,C5231433,,,,Rothmund-Thomson syndrome type 1,"Infancy, Neonatal",Autosomal recessive
24,Fumaric aciduria,Disease,Disorder,5C53.1,0011730,E88.8,606812,C0342770,C538191,10088204,6476,Fumaric aciduria,"Infancy, Neonatal",Autosomal recessive
221016,Rothmund-Thomson syndrome type 2,Clinical subtype,Subtype of disorder,LD2B,0016369,Q82.8,268400,C5203410,,,,Rothmund-Thomson syndrome type 2,"Infancy, Neonatal",Autosomal recessive
1561,Fatal infantile cytochrome C oxidase deficiency,Disease,Disorder,8C73.Y,0015487,G71.3,604377,C4273730,,,,Fatal infantile cytochrome C oxidase deficiency,"Infancy, Neonatal",Autosomal recessive
221039,"Hereditary sclerosing poikiloderma, Weary type",Disease,Disorder,EC10,0008261,Q82.8,173700,C1275083,,,,"Hereditary sclerosing poikiloderma, Weary type",Childhood,
1460,Isolated complex III deficiency,Disease,Disorder,5C53.2Y,0015448,G71.3,616111,C1852372,C565128,,8295,Isolated complex III deficiency,"Childhood, Infancy, Neonatal","Autosomal recessive, Mitochondrial inheritance"
851,Paris-Trousseau thrombocytopenia,Disease,Disorder,3B64.01,0008557,D69.4,188025,C1956093,,,4224,Paris-Trousseau thrombocytopenia,"Infancy, Neonatal",
221043,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,Disease,Disorder,,0014310,Q82.8,615704,C4749823,,,13218,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,Infancy,Autosomal dominant
221046,Poikiloderma with neutropenia,Disease,Disorder,EC10,0011405,D82.8,604173,C1858723,C565820,,4085,Poikiloderma with neutropenia,"Childhood, Infancy, Neonatal",Autosomal recessive
1044,OBSOLETE: Anemia due to adenosine triphosphatase deficiency,Disease,Disorder,,,,,,,,,,,
745,Severe hereditary thrombophilia due to congenital protein C deficiency,Disease,Disorder,3B61.0Y,0019145,D68.5,176860,C0598221,,,,Severe hereditary thrombophilia due to congenital protein C deficiency,Neonatal,"Autosomal dominant, Autosomal recessive"
221054,Acrocephalopolydactyly,Malformation syndrome,Disorder,LD2F.1Y,0008709,Q87.0,200995,C3495588,C573722,,2096,Acrocephalopolydactyly,"Infancy, Neonatal",Autosomal recessive
221061,Familial cerebral cavernous malformation,Malformation syndrome,Disorder,LA90.0Y,0031037,Q28.3,619538,C2931263,C536610,,13641,Familial cerebral cavernous malformation,All ages,Autosomal dominant
849,Glanzmann thrombasthenia,Disease,Disorder,3B62.0Y,0100326,D69.1,273800,C0040015,,,2478,Glanzmann thrombasthenia,"Infancy, Neonatal",Autosomal recessive
225154,Familial infantile bilateral striatal necrosis,Disease,Disorder,LD90.Y,0010080,G23.2,500003,C4087174,,10077450,,Familial infantile bilateral striatal necrosis,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Mitochondrial inheritance"
225123,TFR2-related hemochromatosis,Disease,Disorder,5C64.10,0011417,E83.1,604250,C1858664,C537248,,10093,TFR2-related hemochromatosis,"Adolescent, Adult",Autosomal recessive
225147,Sporadic infantile bilateral striatal necrosis,Disease,Disorder,LD90.Y,0016394,G23.2,,C4087175,,10077451,,Sporadic infantile bilateral striatal necrosis,All ages,Not applicable
222628,Hereditary poikiloderma,Category,Group of disorders,,0016382,,,C5680891,,,,,,
223713,Mitochondrial oxidative phosphorylation disorder,Category,Group of disorders,5C53.2,0016387,,,C5679825,,,,,,
223735,Lymphoma,Category,Group of disorders,,0005062,,,C0024299,D008223,10025310,,,,
223727,Bone sarcoma,Clinical group,Group of disorders,,0021054,,,C1704327,,10006007,,,,
221117,Gerstmann syndrome,Disease,Disorder,MB4C,0005773,F81.2,,C0017494,D005862,10048608,8660,,,
221120,Pseudoaminopterin syndrome,Malformation syndrome,Disorder,LD24.GY,0010865,Q82.0,600325,C0795939,C535823,,4544,Pseudoaminopterin syndrome,"Antenatal, Neonatal",
221126,Fowler vasculopathy,Malformation syndrome,Disorder,,,Q04.8,225790,C1856972,,,,Fowler vasculopathy,"Antenatal, Neonatal",Autosomal recessive
221139,Combined immunodeficiency with facio-oculo-skeletal anomalies,Disease,Disorder,4A01.1Y,0013226,Q87.8,613328,C2750068,C567641,,,Combined immunodeficiency with facio-oculo-skeletal anomalies,Neonatal,Multigenic/multifactorial
221142,Confetti-like macular atrophy,Disease,Disorder,,0016376,L90.8,,C5687155,,,,Confetti-like macular atrophy,Adult,
221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",Malformation syndrome,Disorder,LD28.2,0013170,Q82.8,613177,C2750804,C567716,,,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",Neonatal,Autosomal recessive
221150,OBSOLETE: Pitt-Hopkins-like syndrome,Disease,Disorder,,,,,,,,,,,
228003,Severe combined immunodeficiency due to CORO1A deficiency,Disease,Disorder,4A01.10,0014168,D81.2,615401,C3809383,,,,Severe combined immunodeficiency due to CORO1A deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
3398,Thymic epithelial neoplasm,Category,Group of disorders,,0018079,,,C1266101,C536905,,5201,Thymic epithelial neoplasm,Adult,"Autosomal recessive, Not applicable"
228000,Idiopathic CD4 lymphocytopenia,Biological anomaly,Disorder,4A00.2,0014226,D72.8,615518,C4706550,,10083934,12375,Idiopathic CD4 lymphocytopenia,Adult,Not applicable
547,Non-Hodgkin lymphoma,Category,Group of disorders,,0018908,,605027,C0024305,D008228,10029547,,Non-Hodgkin lymphoma,"Adolescent, Adult, Childhood, Elderly, Infancy",
227990,Autoimmune polyendocrinopathy type 4,Disease,Disorder,5B00,0016423,E31.0,,C3266026,,,,Autoimmune polyendocrinopathy type 4,Adult,Multigenic/multifactorial
842,Testicular seminomatous germ cell tumor,Disease,Disorder,2C80.2,0003669,C62.9,273300,C5551428,,10062124,4792,Testicular seminomatous germ cell tumor,Adult,Not applicable
227982,Autoimmune polyendocrinopathy type 3,Disease,Disorder,5B00,0016422,E31.0,,C1535942,,10064115,10980,Autoimmune polyendocrinopathy type 3,All ages,Multigenic/multifactorial
227976,"Autosomal recessive optic atrophy, OPA7 type",Disease,Disorder,9C40.B1,0013069,H47.2,612989,C5190807,,,,"Autosomal recessive optic atrophy, OPA7 type",Childhood,Autosomal recessive
876,Yolk sac tumor,Disease,Disorder,2F34,0005744,C62.9,273300,C0014145,D018240,10048251,348,Yolk sac tumor,"Adolescent, Adult",Not applicable
227972,Toxic oil syndrome,Disease,Disorder,NE61,0016421,X46,,C0409998,,10051222,,Toxic oil syndrome,All ages,Not applicable
883,Extragonadal teratoma,Disease,Disorder,,0019500,D48.7,,C4708601,D013724,10043276,,,,
227796,Fundus albipunctatus,Disease,Disorder,9B70,0007639,H35.5,136880,C0311338,C562733,,,Fundus albipunctatus,Childhood,"Autosomal dominant, Autosomal recessive"
228123,Coccidioidomycosis,Disease,Disorder,1F25.12,0005706,B38.9,,C0009186,D003047,10009825,9525,Coccidioidomycosis,All ages,Not applicable
228119,Fusariosis,Disease,Disorder,1F2Z,0016426,B48.7,,C0276758,D060585,10051919,,Fusariosis,All ages,Not applicable
228116,Hughes-Stovin syndrome,Disease,Disorder,4A44.Y,0016425,I28.8,,C4303478,,,,Hughes-Stovin syndrome,Adult,Not applicable
228113,Anal fistula,Particular clinical situation in a disease or syndrome,Disorder,DB50.1,0000754,K60.3,,C0205929,,10002156,,Anal fistula,All ages,Not applicable
3399,Germ cell tumor,Category,Group of disorders,,,,,C0740345,,10061184,,,,
389,Langerhans cell histiocytosis,Disease,Disorder,2B31.2Y,0018310,C96.6,604856,C0019621,D006646,10069698,6858,Langerhans cell histiocytosis,All ages,Unknown
228012,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,Disease,Disorder,AB51.1,0016424,H90.3,606346,C4304831,,,,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,All ages,Autosomal dominant
616,Medulloblastoma,Disease,Disorder,2A00.10,0007959,C71.6,155255,C0025149,D008527,10027107,7005,Medulloblastoma,All ages,Not applicable
301,Ependymal tumor,Clinical group,Group of disorders,,0003266,,137800,C1333407,,,,Ependymal tumor,All ages,
541,Primary cutaneous CD30+ T-cell lymphoproliferative disease,Clinical group,Group of disorders,2B03,0018897,C86.6,,C5679826,,,,Primary cutaneous CD30+ T-cell lymphoproliferative disease,Adult,
543,Burkitt lymphoma,Disease,Disorder,2A85.6,0007243,C83.7,113970,C0006413,D002051,10006595,5973,Burkitt lymphoma,All ages,Not applicable
319,Skeletal Ewing sarcoma,Disease,Disorder,,0012817,C40.2,612219,C0585474,,10015560,6390,Skeletal Ewing sarcoma,All ages,Not applicable
227535,Hereditary breast cancer,Disease,Disorder,2C6Y,0016419,C50.0,613399,C0346153,C562840,,,Hereditary breast cancer,"Adult, Elderly","Autosomal dominant, Multigenic/multifactorial"
668,Osteosarcoma,Disease,Disorder,2B51.2,0002629,C41.9,259500,C0029463,D012516,10031291,7284,Osteosarcoma,Childhood,Not applicable
227786,OBSOLETE: Familial flecked retinopathy,Category,Group of disorders,,,,,,,,,,,
227510,"Multiple system atrophy, cerebellar type",Clinical subtype,Subtype of disorder,8D87.00,0016418,G23.3,,C5554234,,,,"Multiple system atrophy, cerebellar type",Adult,Not applicable
94,Astrocytoma,Clinical group,Group of disorders,,0021636,,137800,C0004114,D001254,10003571,,Astrocytoma,All ages,
360,Glioblastoma,Disease,Disorder,2A00.00,0018177,C71.9,613029,C1621958,D005909,10018336,2491,Glioblastoma,All ages,"Multigenic/multifactorial, Not applicable"
226292,Permanent congenital hypothyroidism,Category,Group of disorders,5A00.0Y,0016408,,,C5680893,,,,Permanent congenital hypothyroidism,"Infancy, Neonatal","Autosomal recessive, Not applicable"
513,Acute lymphoblastic leukemia,Clinical group,Group of disorders,,0004967,C91.0,613067,C1961102,D054198,,522,Acute lymphoblastic leukemia,All ages,
1957,Esthesioneuroblastoma,Disease,Disorder,XH50L1,0016029,C30.0,,C0206717,D018304,,2197,Esthesioneuroblastoma,"Adult, Elderly",Not applicable
226298,Central congenital hypothyroidism,Clinical group,Group of disorders,5A61.41,0016410,,,C3665349,,,12280,,,
2030,Fibrosarcoma,Disease,Disorder,,0005164,C49.9,,C0016057,D005354,10016632,2327,Fibrosarcoma,All ages,Not applicable
2126,Solitary fibrous tumor,Disease,Disorder,,0016238,D21.9,234820,C0018922,D006393,10018825,,Solitary fibrous tumor,All ages,Not applicable
226295,Primary congenital hypothyroidism,Clinical group,Group of disorders,,,,,C3715197,,,,,,
758,Pseudoxanthoma elasticum,Disease,Disorder,EC40,0009925,Q82.8,264800,C0033847,D011561,10037150,9643,Pseudoxanthoma elasticum,All ages,Autosomal recessive
419,Hyperprolinemia type 1,Disease,Disorder,5C50.8,0009400,E72.5,239500,C0268529,,10058513,2847,Hyperprolinemia type 1,All ages,Autosomal recessive
1501,Adrenocortical carcinoma,Disease,Disorder,2D11.Z,0006639,C74.0,202300,C0206686,D018268,10001388,558,Adrenocortical carcinoma,Childhood,Not applicable
226316,Genetic transient congenital hypothyroidism,Disease,Disorder,5A00.03,0044331,P72.2,607200,C4749351,,,,Genetic transient congenital hypothyroidism,"Infancy, Neonatal",Autosomal recessive
2677,OBSOLETE: Neuroepithelioma,Disease,Disorder,,,,,,,,,,,
226307,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,Disease,Disorder,5A00.01,0016411,E03.1,,C4273672,,,,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,Infancy,"Autosomal dominant, Autosomal recessive"
3148,Malignant peripheral nerve sheath tumor,Disease,Disorder,2A02.10,0017827,C47.9,,C0751690,D018319,10029236,10872,Malignant peripheral nerve sheath tumor,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
3273,Synovial sarcoma,Disease,Disorder,,0010434,C49.9,300813,C0039101,D013584,10042863,7721,Synovial sarcoma,All ages,Not applicable
226313,Congenital hypothyroidism due to maternal intake of antithyroid drugs,Disease,Disorder,5A00.03,0016413,P72.2,,C5190849,,,,Congenital hypothyroidism due to maternal intake of antithyroid drugs,"Infancy, Neonatal",
226310,OBSOLETE: Peripheral hypothyroidism,Clinical group,Group of disorders,,,,,,,,,,,
391,Classic Hodgkin lymphoma,Disease,Disorder,2B30.1,0009348,C81.4,400021,C1333064,,,,Classic Hodgkin lymphoma,All ages,Unknown
2260,Oligomeganephronia,Morphological anomaly,Disorder,LB30.4,0016407,Q60.4,,C0431694,,,4066,Oligomeganephronia,All ages,Multigenic/multifactorial
225689,Amino acid or protein metabolism disease with epilepsy,Category,Group of disorders,,,,,C5680894,,,,,,
225692,Metal transport or utilization disorder with epilepsy,Category,Group of disorders,,,,,C5680895,,,,,,
503,Larsen syndrome,Malformation syndrome,Disorder,LD24.E,0007875,Q74.8,150250,C0175778,C580241,10073856,6860,Larsen syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
1652,Dent disease,Disease,Disorder,GB90.42,0015612,N25.8,310468,C0878681,D057973,10069199,13105,Dent disease,Childhood,X-linked recessive
225696,Energy metabolism disorder with epilepsy,Category,Group of disorders,,,,,C5680896,,,,,,
225700,Mitochondrial disease with epilepsy,Category,Group of disorders,,,,,C5680897,,,,,,
2542,Isolated microphthalmia-anophthalmia-coloboma,Clinical group,Group of disorders,,,,156850,C5679828,,,12085,Isolated microphthalmia-anophthalmia-coloboma,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
3280,Syringomyelia,Clinical group,Group of disorders,8D66,0017987,,186700,C0039144,D013595,10042928,7725,Syringomyelia,All ages,Not applicable
2478,Megalencephalic leukoencephalopathy with subcortical cysts,Disease,Disorder,8A44.3,0011391,E75.2,613926,C1858854,C536141,,3445,Megalencephalic leukoencephalopathy with subcortical cysts,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
225681,Lysosomal disease with epilepsy,Category,Group of disorders,,,,,C5680898,,,,,,
225686,Peroxisomal disease with epilepsy,Category,Group of disorders,,,,,C5680899,,,,,,
225968,OBSOLETE: Inherited predisposition to essential thrombocythemia,Disease,Disorder,,,,,,,,,,,
3337,Primary Fanconi renotubular syndrome,Disease,Disorder,GB90.42,,E72.0,618913,C1857395,,,9118,Primary Fanconi renotubular syndrome,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
223,Arginine vasopressin resistance,Disease,Disorder,GB90.4A,0016383,N25.1,304800,C0162283,D018500,10029147,7178,Arginine vasopressin resistance,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
225703,Mitochondrial disease with peripheral neuropathy,Category,Group of disorders,,,,,C5680900,,,,,,
225707,Metabolic neurotransmission anomaly with epilepsy,Category,Group of disorders,,,,,C5680901,,,,,,
225710,Sterol metabolism disorder with epilepsy,Category,Group of disorders,,,,,C5680902,,,,,,
757,Pseudohypoaldosteronism type 2,Disease,Disorder,BA04.Y,0019162,I15.1,614496,C1449844,,,4553,Pseudohypoaldosteronism type 2,All ages,"Autosomal dominant, Autosomal recessive"
225713,Other metabolic disease with epilepsy,Category,Group of disorders,,,,,C5680903,,,,,,
228418,OBSOLETE: Microcephaly-seizures-developmental delay syndrome,Disease,Disorder,,,,,,,,,,,
228423,GATA2 deficiency spectrum,Disease,Disorder,4A00.2,0013607,D72.8,614172,C5925006,,,10934,GATA2 deficiency spectrum,Adult,"Autosomal dominant, Not applicable"
521,Chronic myeloid leukemia,Disease,Disorder,2B33.2,0011996,C92.1,608232,C0279543,,10009013,6105,Chronic myeloid leukemia,"Adolescent, Adult, Childhood, Infancy",Not applicable
228415,5q35 microduplication syndrome,Malformation syndrome,Disorder,LD41.40,0016461,Q92.3,,C4304526,,,,5q35 microduplication syndrome,Childhood,"Not applicable, Unknown"
132,Hereditary butyrylcholinesterase deficiency,Disease,Disorder,5C59.Y,0015270,E88.0,617936,C5880943,C537417,10062674,7482,Hereditary butyrylcholinesterase deficiency,"Infancy, Neonatal",Autosomal recessive
1172,Autosomal recessive cerebellar ataxia,Clinical group,Group of disorders,,0015244,,,C5575375,,,,Autosomal recessive cerebellar ataxia,All ages,Autosomal recessive
229717,Non-syndromic agammaglobulinemia,Disease,Disorder,4A01.00,0016462,D80.0,616941,C4707181,,,,Non-syndromic agammaglobulinemia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
229720,Syndromic agammaglobulinemia,Category,Group of disorders,,0016463,,,C5680904,,,,,,
228426,Syndromic multisystem autoimmune disease due to Itch deficiency,Disease,Disorder,4A43.Y,0013245,D89.8,613385,C4755273,,,10775,Syndromic multisystem autoimmune disease due to Itch deficiency,"Infancy, Neonatal",Autosomal recessive
2345,Isolated Klippel-Feil syndrome,Malformation syndrome,Disorder,LB73.20,0016520,Q76.1,613702,C0022738,D007714,10023464,10280,Isolated Klippel-Feil syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
1333,Familial pancreatic carcinoma,Disease,Disorder,2C10.Z,0015278,C25,613348,C2931038,C535837,,4206,Familial pancreatic carcinoma,Adult,"Autosomal dominant, Multigenic/multifactorial"
228429,Congenital generalized  lipodystrophy type 4,Clinical subtype,Subtype of disorder,,,E88.1,613327,C2750069,,,,Congenital generalized  lipodystrophy type 4,,Autosomal recessive
228396,Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,Malformation syndrome,Disorder,LA1Y,0016457,Q87.0,,C4510249,,,,Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,"Infancy, Neonatal",Autosomal recessive
2794,NON RARE IN EUROPE: Familial otosclerosis,Disease,Disorder,,,,,,,,,,,
228387,Spondylo-megaepiphyseal-metaphyseal dysplasia,Disease,Disorder,LD24.3,0013228,Q77.7,613330,C2750066,C567639,,,Spondylo-megaepiphyseal-metaphyseal dysplasia,"Infancy, Neonatal",Autosomal recessive
228390,Frontonasal dysplasia-alopecia-genital anomalies syndrome,Malformation syndrome,Disorder,,0013268,Q87.0,613451,C4510728,,,,Frontonasal dysplasia-alopecia-genital anomalies syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
228407,Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome,Malformation syndrome,Disorder,,,,213980,,,,,,,
228410,Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome,Malformation syndrome,Disorder,LD2F.1Y,0016460,Q87.8,,C4509918,,,,Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal dominant
228399,8q12 microduplication syndrome,Malformation syndrome,Disorder,LD41.70,0016458,Q92.3,,C4304504,,,12816,8q12 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2781,Osteopetrosis and related disorders,Clinical group,Group of disorders,LD24.10,0017198,Q78.2,,C0029454,D010022,10031280,4155,Osteopetrosis and related disorders,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
228402,2q23.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.20,0016459,Q93.5,156200,C4304532,,,10998,2q23.1 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
228366,CLN7 disease,Disease,Disorder,5C56.1,,E75.4,610951,C1838571,,,,CLN7 disease,Infancy,
228363,CLN6 disease,Disease,Disorder,5C56.1,,E75.4,601780,C5680906,,,,CLN6 disease,Infancy,Autosomal recessive
228360,CLN5 disease,Disease,Disorder,5C56.1,,E75.4,256731,C1850442,,,,CLN5 disease,Infancy,
228357,OBSOLETE: CLN9 disease,Etiological subtype,Subtype of disorder,,,,,,,,,,,
228384,5q14.3 microdeletion syndrome,Etiological subtype,Subtype of disorder,LD44.50,0016456,Q93.5,613443,C4304529,,,12166,5q14.3 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
228379,Virus-associated trichodysplasia spinulosa,Disease,Disorder,ED5Y,0016455,L08.8,,C3267126,,10072358,,Virus-associated trichodysplasia spinulosa,All ages,Not applicable
228374,Charcot-Marie-Tooth disease type 2B5,Disease,Disorder,8C20.1,0016454,G60.0,607734,C4749824,,,,Charcot-Marie-Tooth disease type 2B5,"Childhood, Infancy",Autosomal recessive
228371,Foodborne botulism,Clinical subtype,Subtype of disorder,1A11.0,0016453,A05.1,,C1739094,,,,Foodborne botulism,All ages,
228340,OBSOLETE: CLN4A disease,Etiological subtype,Subtype of disorder,,,,,,,,,,,
228337,CLN10 disease,Disease,Disorder,5C56.1,,E75.4,610127,C5888338,,,,CLN10 disease,"Adult, Antenatal, Infancy",Autosomal recessive
228329,CLN1 disease,Disease,Disorder,5C56.1,,E75.4,256730,C0268281,,,,CLN1 disease,Infancy,Autosomal recessive
228318,OBSOLETE: Idiopathic hypersomnia without long sleep time,Clinical subtype,Subtype of disorder,,,,,,,,,,,
228354,CLN8 disease,Disease,Disorder,5C56.1,,E75.4,600143,C1838570,,,,CLN8 disease,Infancy,Autosomal recessive
228349,CLN2 disease,Disease,Disorder,5C56.1,,E75.4,204500,C5679830,,,,CLN2 disease,Infancy,Autosomal recessive
228346,CLN3 disease,Disease,Disorder,5C56.1,,,607042,C0751383,,,,CLN3 disease,Infancy,Autosomal recessive
228343,CLN4 disease,Disease,Disorder,5C56.1,,E75.4,162350,C1834207,,,,CLN4 disease,Adult,
228290,White fibrous papulosis of the neck,Disease,Disorder,EE41.Y,0016447,L98.8,,C4706484,,,,White fibrous papulosis of the neck,Adult,Not applicable
228293,Pseudoxanthoma elasticum-like papillary dermal elastolysis,Disease,Disorder,EE41.Y,0016448,L98.8,,C4049455,,,,Pseudoxanthoma elasticum-like papillary dermal elastolysis,Adult,Not applicable
228299,Mid-dermal elastolysis,Disease,Disorder,EE41.Y,0016449,L98.8,,C4728147,,10081688,,Mid-dermal elastolysis,Adult,Not applicable
228302,"Carnitine palmitoyl transferase II deficiency, myopathic form",Clinical subtype,Subtype of disorder,5C52.00,0009704,E71.3,255110,C1833508,C563461,,,"Carnitine palmitoyl transferase II deficiency, myopathic form","Adolescent, Adult, Childhood, Infancy",Autosomal recessive
228305,"Carnitine palmitoyl transferase II deficiency, severe infantile form",Clinical subtype,Subtype of disorder,5C52.00,0010914,E71.3,600649,C1833511,C563462,,,"Carnitine palmitoyl transferase II deficiency, severe infantile form","Infancy, Neonatal",Autosomal recessive
228308,"Carnitine palmitoyl transferase II deficiency, neonatal form",Clinical subtype,Subtype of disorder,5C52.00,0012136,E71.3,608836,C1833518,C563463,,,"Carnitine palmitoyl transferase II deficiency, neonatal form",Neonatal,Autosomal recessive
228312,"Autoimmune hemolytic anemia, cold type",Clinical group,Group of disorders,3A20.1,0016450,,,C5848126,,10009868,,"Autoimmune hemolytic anemia, cold type",All ages,Multigenic/multifactorial
228315,OBSOLETE: Idiopathic hypersomnia with long sleep time,Clinical subtype,Subtype of disorder,,,,,,,,,,,
228240,Elastoderma,Disease,Disorder,EE41.Y,0016439,L98.8,,C0406555,,,12716,Elastoderma,"Adolescent, Adult",Not applicable
135,CACH syndrome,Disease,Disorder,8A44.3,0800448,E75.2,615889,C1858991,,,231,CACH syndrome,Childhood,Autosomal recessive
228243,Elastofibroma dorsi,Disease,Disorder,,0016440,L98.8,,C0346042,,,,Elastofibroma dorsi,Adult,Not applicable
228247,Acquired pseudoxanthoma elasticum,Disease,Disorder,EE41.Y,0016441,L98.8,,C1274759,,,,Acquired pseudoxanthoma elasticum,Adult,Not applicable
228254,Elastoma,Disease,Disorder,LC2Y,0016442,Q82.8,,C0473583,,,,Elastoma,Childhood,Not applicable
228264,Papular elastorrhexis,Disease,Disorder,EE41.Y,0016443,L98.8,,C5680907,,,,Papular elastorrhexis,All ages,Not applicable
228272,Primary anetoderma,Disease,Disorder,EE41.1,0016444,L90.2,,C0406550,D057088,,,Primary anetoderma,All ages,Not applicable
228277,Familial anetoderma,Disease,Disorder,EE41.1,0016445,L90.8,,C4518793,,,,Familial anetoderma,All ages,"Autosomal dominant, Autosomal recessive"
228285,Acquired cutis laxa,Disease,Disorder,EE41.0,0016446,L98.8,,C0406549,,,,Acquired cutis laxa,All ages,Not applicable
228190,Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,Malformation syndrome,Disorder,LA8Y,0011454,Q87.2,604381,C4302746,,,,Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,"Infancy, Neonatal",Autosomal dominant
3203,Overhydrated hereditary stomatocytosis,Disease,Disorder,3A10.Y,0008493,D58.8,185000,C1861455,,,4183,Overhydrated hereditary stomatocytosis,"Infancy, Neonatal",Autosomal dominant
3202,Dehydrated hereditary stomatocytosis,Disease,Disorder,3A10.Y,0017910,D58.8,616689,C0272051,C536764,10089900,5623,Dehydrated hereditary stomatocytosis,"Antenatal, Neonatal",Autosomal dominant
228218,Acquired dermis elastic tissue disorder,Category,Group of disorders,,,,,C5680908,,,,,,
228215,Genetic dermis elastic tissue disorder,Category,Group of disorders,,,,,C5680909,,,,,,
228224,Acquired dermis elastic tissue disorder with increased elastic tissue,Category,Group of disorders,,,,,C5680910,,,,,,
228221,Acquired dermis elastic tissue disorder with decreased elastic tissue,Category,Group of disorders,,,,,C5680911,,,,,,
1544,Benign focal seizures of adolescence,Disease,Disorder,8A6Y,0015471,G40.8,,C4275141,,,,,,
228236,Linear focal elastosis,Disease,Disorder,,0016438,L98.8,,C4751166,,,,Linear focal elastosis,All ages,Not applicable
228227,Late-onset focal dermal elastosis,Disease,Disorder,,0016437,L98.8,,C4751167,,,,Late-onset focal dermal elastosis,Adult,Not applicable
228145,Multiple sclerosis variant,Category,Group of disorders,,,,,C5680912,,,,,,
228140,Idiopathic ventricular fibrillation,Disease,Disorder,BC65.4,,I49.0,612956,C4510132,,,4227,Idiopathic ventricular fibrillation,All ages,"Autosomal dominant, Not applicable"
1018,X-linked Alport syndrome-diffuse leiomyomatosis,Clinical subtype,Subtype of disorder,LD2H.Y,0010641,Q87.8,308940,C4511693,,,2432,X-linked Alport syndrome-diffuse leiomyomatosis,"Adolescent, Adult, Childhood",X-linked dominant
228165,Baló concentric sclerosis,Disease,Disorder,8A40.Y,0016430,G37.5,,C0004712,,10010252,5885,Baló concentric sclerosis,Adult,Multigenic/multifactorial
306,Self-limited infantile epilepsy,Disease,Disorder,8A61.10,0017615,G40.3,602066,C5575231,,,857,Self-limited infantile epilepsy,"Infancy, Neonatal",Autosomal dominant
228157,Marburg acute multiple sclerosis,Disease,Disorder,8A4Y,0016429,G35,,C4707723,,,,Marburg acute multiple sclerosis,Adult,Multigenic/multifactorial
328,Congenital factor X deficiency,Disease,Disorder,3B14.1,0009212,D68.2,227600,C0015519,D005171,10052474,6404,Congenital factor X deficiency,All ages,Autosomal recessive
228174,Autosomal dominant Charcot-Marie-Tooth disease type 2N,Disease,Disorder,8C20.1,0013212,G60.0,613287,C2750090,C567653,,,Autosomal dominant Charcot-Marie-Tooth disease type 2N,All ages,Autosomal dominant
228169,Autosomal dominant striatal neurodegeneration,Disease,Disorder,,0000211,G31.8,609161,C4511004,,,,Autosomal dominant striatal neurodegeneration,Adult,Autosomal dominant
2132,Hemoglobin C disease,Disease,Disorder,3A51.5,0016242,D58.2,,C0019021,D006445,10018883,2640,Hemoglobin C disease,All ages,Autosomal recessive
2133,Hemoglobin E disease,Disease,Disorder,3A51.A,0016243,D58.2,,C0238159,,10053215,2641,Hemoglobin E disease,All ages,Autosomal recessive
228184,Heart-hand syndrome,Category,Group of disorders,,0016432,,,C5848054,,,,,,
228179,Autosomal dominant Charcot-Marie-Tooth disease type 2M,Disease,Disorder,8C20.1,0016431,G60.0,606482,C4304672,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2M,All ages,Autosomal dominant
288,Hereditary elliptocytosis,Disease,Disorder,3A10.2,0017319,D58.1,611804,C0013902,D004612,10014490,6621,Hereditary elliptocytosis,All ages,"Autosomal dominant, Autosomal recessive"
751,NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency,Disease,Disorder,,,,,,,,,,,
231531,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,Clinical subtype,Subtype of disorder,EC23.20,,E70.3,614076,C5680913,,,,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,,Autosomal recessive
231537,Hermansky-Pudlak syndrome type 8,Clinical subtype,Subtype of disorder,,,,614077,,,,,,,
231512,Hermansky-Pudlak syndrome due to BLOC-2 deficiency,Clinical subtype,Subtype of disorder,EC23.20,0016502,E70.3,614075,C5679833,,,,Hermansky-Pudlak syndrome due to BLOC-2 deficiency,"Infancy, Neonatal",Autosomal recessive
1320,Idiopathic camptocormia,Morphological anomaly,Disorder,,0015271,M43.8,,C0264162,C537968,10069646,1063,Idiopathic camptocormia,"Adult, Elderly",Not applicable
256,Early-onset generalized limb-onset dystonia,Disease,Disorder,8A02.0Y,0007492,G24.1,602554,C3888090,,10076668,2027,Early-onset generalized limb-onset dystonia,"Adolescent, Adult, Childhood",Autosomal dominant
231500,Hermansky-Pudlak syndrome due to BLOC-3 deficiency,Clinical subtype,Subtype of disorder,EC23.20,0016501,E70.3,614073,C5679834,,,,Hermansky-Pudlak syndrome due to BLOC-3 deficiency,"Infancy, Neonatal",Autosomal recessive
441,Pure autonomic failure,Disease,Disorder,8D84,0018608,G90.8,,C0393911,D054970,,10428,Pure autonomic failure,"Adult, Elderly",Not applicable
231457,Acute pandysautonomia,Disease,Disorder,8C01.0,0016499,G61.0,,C2315246,,,,Acute pandysautonomia,All ages,"Multigenic/multifactorial, Not applicable"
231466,Acute sensory ataxic neuropathy,Disease,Disorder,8C01.0,0016500,G61.0,,C4707661,,,,Acute sensory ataxic neuropathy,All ages,"Multigenic/multifactorial, Not applicable"
1576,Infantile bilateral striatal necrosis,Clinical group,Group of disorders,,0015518,,500003,C0795996,C537500,,5040,Infantile bilateral striatal necrosis,All ages,"Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable"
231445,Paraparetic variant of Guillain-Barré syndrome,Disease,Disorder,8C01.0,0016497,G61.0,,C4707803,,,,Paraparetic variant of Guillain-Barré syndrome,All ages,"Multigenic/multifactorial, Not applicable"
231450,Acute pure sensory neuropathy,Disease,Disorder,,0016498,G61.0,,C5190881,,,,Acute pure sensory neuropathy,All ages,"Multigenic/multifactorial, Not applicable"
2073,Narcolepsy type 1,Disease,Disorder,7A20.0,0016158,G47.4,614250,C4543926,,,,Narcolepsy type 1,"Adolescent, Adult, Childhood",Unknown
231426,Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome,Disease,Disorder,8C01.0,0016496,G61.0,,C5190783,,,,Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome,All ages,"Multigenic/multifactorial, Not applicable"
231416,Regional variant of Guillain-Barré syndrome,Clinical group,Group of disorders,,,,,C5679835,,,,Regional variant of Guillain-Barré syndrome,All ages,"Multigenic/multifactorial, Not applicable"
231419,Functional variant of Guillain-Barré syndrome,Clinical group,Group of disorders,,,,,C5679836,,,,Functional variant of Guillain-Barré syndrome,All ages,"Multigenic/multifactorial, Not applicable"
231401,Alpha-thalassemia-myelodysplastic syndrome,Disease,Disorder,3A50.0Y,0010328,D56.0,300448,C0585216,C563023,,,Alpha-thalassemia-myelodysplastic syndrome,Adult,Not applicable
231413,Variant of Guillain-Barré syndrome,Category,Group of disorders,,,,,C5679837,,,,Variant of Guillain-Barré syndrome,All ages,"Multigenic/multifactorial, Not applicable"
1866,"Focal, segmental or multifocal dystonia",Category,Group of disorders,,0015990,,,C5680914,,,,"Focal, segmental or multifocal dystonia",Adult,Autosomal dominant
2611,Linear verrucous nevus syndrome,Disease,Disorder,,0016831,Q82.5,,C5679838,,,3259,Linear verrucous nevus syndrome,Neonatal,
231393,Beta-thalassemia-X-linked thrombocytopenia syndrome,Disease,Disorder,3A50.2,0010745,D69.4,314050,C1839161,C564050,,,Beta-thalassemia-X-linked thrombocytopenia syndrome,No data available,X-linked recessive
809,Mixed connective tissue disease,Disease,Disorder,4A43.3,0005854,M35.1,,C0026272,D008947,10027754,7051,Mixed connective tissue disease,"Adolescent, Adult, Childhood",Multigenic/multifactorial
231386,Syndromic beta-thalassemia,Category,Group of disorders,,,,,C5680915,,,,,,
231256,Beta-thalassemia-trichothiodystrophy syndrome,Disease,Disorder,,,,,,,,,,,
1309,Medullary sponge kidney,Morphological anomaly,Disorder,LB30.8,0015268,Q61.5,,C0022681,D007691,10027104,232,Medullary sponge kidney,"Adult, Childhood","Autosomal dominant, Not applicable"
231249,Hemoglobin E-beta-thalassemia syndrome,Disease,Disorder,3A50.2,0016491,D58.2,,C0472777,,,,Hemoglobin E-beta-thalassemia syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
231242,Hemoglobin C-beta-thalassemia syndrome,Disease,Disorder,3A50.Y,0016490,D58.2,,C0221020,,,,Hemoglobin C-beta-thalassemia syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
2197,Idiopathic hypercalciuria,Disease,Disorder,MF98.0,,E83.5,607258,C0543800,,,,Idiopathic hypercalciuria,"Adolescent, Adult, Childhood",Autosomal dominant
231237,Delta-beta-thalassemia,Disease,Disorder,3A50.3,0016489,D56.2,141749,C0271985,C562716,10012236,,Delta-beta-thalassemia,"Infancy, Neonatal",Autosomal recessive
231230,Beta-thalassemia associated with another hemoglobin anomaly,Category,Group of disorders,,,,,C5679839,,,,Beta-thalassemia associated with another hemoglobin anomaly,All ages,"Autosomal dominant, Autosomal recessive"
231226,Unstable beta globin chain variant disease,Disease,Disorder,3A50.2,0011381,D56.1,603902,C1858990,C565834,,,Unstable beta globin chain variant disease,Childhood,Autosomal dominant
18,Distal renal tubular acidosis,Disease,Disorder,GB90.44,0015827,N25.8,611590,C1704380,,10045224,4667,Distal renal tubular acidosis,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
231222,Beta-thalassemia intermedia,Disease,Disorder,3A50.2,0016487,D56.1,613985,C0472767,,10062923,,Beta-thalassemia intermedia,Childhood,Autosomal recessive
160,Castleman disease,Disease,Disorder,4B2Y,0015564,D47.7,148000,C0017531,D005871,10050251,12656,Castleman disease,All ages,Not applicable
231214,Beta-thalassemia major,Disease,Disorder,3A50.2,0016486,D56.1,613985,C0002875,,,,Beta-thalassemia major,"Infancy, Neonatal",Autosomal recessive
231205,Common variable immunodeficiency without known genetic defect,Disease,Disorder,,,,,,,,,,,
2841,Hailey-Hailey disease,Disease,Disorder,EC20.2,0008218,Q82.8,169600,C0085106,D016506,,6559,Hailey-Hailey disease,Adult,Autosomal dominant
231183,Usher syndrome type 3,Clinical subtype,Subtype of disorder,LD2H.4,0016485,H35.5,614504,C1568248,,,5442,Usher syndrome type 3,"Adolescent, Childhood",Autosomal recessive
347,Frasier syndrome,Disease,Disorder,LD2A.Y,0007635,N04.1,136680,C0950122,D052159,10080313,2375,Frasier syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
231178,Usher syndrome type 2,Clinical subtype,Subtype of disorder,LD2H.4,0016484,H35.5,611383,C0339534,,,5440,Usher syndrome type 2,"Infancy, Neonatal",Autosomal recessive
1670,Chronic diarrhea with villous atrophy,Disease,Disorder,DA90.Y,0010786,K63.8,520100,C1838912,C564019,,,Chronic diarrhea with villous atrophy,Infancy,
2596,Myopathy and diabetes mellitus,Disease,Disorder,8C73.Y,0010773,G71.3,500002,C5191051,,,3881,Myopathy and diabetes mellitus,"Adolescent, Adult, Childhood, Infancy, Neonatal",Mitochondrial inheritance
231154,Combined immunodeficiency due to partial RAG1 deficiency,Disease,Disorder,4A01.1Y,0012359,D81.8,609889,C4510944,,,13712,Combined immunodeficiency due to partial RAG1 deficiency,"Infancy, Neonatal",Autosomal recessive
2966,Properdin deficiency,Disease,Disorder,4A00.1Y,0010713,D84.1,312060,C0398762,C537241,,4513,Properdin deficiency,,X-linked recessive
231160,Familial cerebral saccular aneurysm,Disease,Disorder,8B22.6,,I67.1,614252,C3839866,,,,Familial cerebral saccular aneurysm,All ages,"Autosomal dominant, Autosomal recessive"
231169,Usher syndrome type 1,Clinical subtype,Subtype of disorder,LD2H.4,0010168,H35.5,614869,C1568247,,,5435,Usher syndrome type 1,"Infancy, Neonatal",Autosomal recessive
231137,Silver-Russell syndrome due to 7p11.2p13 microduplication,Etiological subtype,Subtype of disorder,LD2F.1Y,0016479,Q87.1,,C5679840,,,,Silver-Russell syndrome due to 7p11.2p13 microduplication,"Infancy, Neonatal","Autosomal dominant, Not applicable"
231140,Silver-Russell syndrome due to an imprinting defect of 11p15,Etiological subtype,Subtype of disorder,LD2F.1Y,0016480,Q87.1,,C5680916,,,,Silver-Russell syndrome due to an imprinting defect of 11p15,"Antenatal, Neonatal","Not applicable, Unknown"
231144,Silver-Russell syndrome due to 11p15 microduplication,Etiological subtype,Subtype of disorder,LD2F.1Y,0016481,Q87.1,,C5680917,,,,Silver-Russell syndrome due to 11p15 microduplication,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
2194,OBSOLETE: Anti-HLA hyperimmunization,Disease,Disorder,,,,,,,,,,,
231147,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,Etiological subtype,Subtype of disorder,LD2F.1Y,0016482,Q87.1,,C5679841,,,,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,"Infancy, Neonatal","Not applicable, Unknown"
231120,Beckwith-Wiedemann syndrome due to CDKN1C mutation,Etiological subtype,Subtype of disorder,LD2C,0016476,Q87.3,130650,C5680918,,,,Beckwith-Wiedemann syndrome due to CDKN1C mutation,"Infancy, Neonatal",Autosomal dominant
231127,Beckwith-Wiedemann syndrome due to 11p15 microdeletion,Etiological subtype,Subtype of disorder,LD2C,0016477,Q87.3,,C5680919,,,,Beckwith-Wiedemann syndrome due to 11p15 microdeletion,,Not applicable
231130,Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion,Etiological subtype,Subtype of disorder,LD2C,0016478,Q87.3,,C5680920,,,,Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion,"Infancy, Neonatal",
231080,High-grade dysplasia in patients with Barrett esophagus,Particular clinical situation in a disease or syndrome,Disorder,DA23.1,,K22.7,,C1334003,,,,High-grade dysplasia in patients with Barrett esophagus,All ages,Not applicable
405,Familial hypocalciuric hypercalcemia,Disease,Disorder,5A51.2,0018458,E83.5,600740,C1809471,,10068698,10828,Familial hypocalciuric hypercalcemia,All ages,Autosomal dominant
231108,Rhabdoid tumor predisposition syndrome,Disease,Disorder,,,C49.9,613325,C2985524,,,,Rhabdoid tumor predisposition syndrome,Childhood,Autosomal dominant
231111,Drug-induced lupus erythematosus,Disease,Disorder,4A40.1,0016474,M32.0,,C0263591,,10013706,,Drug-induced lupus erythematosus,All ages,Not applicable
231117,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,Etiological subtype,Subtype of disorder,LD2C,0016475,Q87.3,,C5680922,,,,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,"Infancy, Neonatal",
1223,Balantidiasis,Disease,Disorder,1A30,0005662,A07.0,,C0004692,D001447,10004080,809,Balantidiasis,All ages,Not applicable
231040,Familial generalized lentiginosis,Disease,Disorder,EC23.0,0007891,L81.4,151001,C4707357,,,,Familial generalized lentiginosis,All ages,"Autosomal dominant, Unknown"
3318,Essential thrombocythemia,Disease,Disorder,3B63.1Z,0005029,D47.3,614521,C0040028,D013920,10015493,6594,Essential thrombocythemia,All ages,"Multigenic/multifactorial, Not applicable"
230857,Ehlers-Danlos/osteogenesis imperfecta syndrome,Disease,Disorder,LD28.1Y,0016470,Q79.6,619120,C4518787,,,,Ehlers-Danlos/osteogenesis imperfecta syndrome,"Infancy, Neonatal",Autosomal dominant
230851,Cardiac-valvular Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0009159,Q79.6,225320,C4303789,,,12613,Cardiac-valvular Ehlers-Danlos syndrome,"Infancy, Neonatal",Autosomal recessive
231031,Erythema palmare hereditarium,Disease,Disorder,,0007570,L59.8,133000,C1851502,C565041,,,Erythema palmare hereditarium,"Infancy, Neonatal",Autosomal dominant
913,Zollinger-Ellison syndrome,Disease,Disorder,5A43.1,0019610,E16.4,,C0043515,D015043,10017852,7918,Zollinger-Ellison syndrome,"Adult, Elderly",Not applicable
231013,Congenital trigeminal anesthesia,Disease,Disorder,,0007384,G50.8,122450,C1852541,C536440,10088099,10034,Congenital trigeminal anesthesia,"Infancy, Neonatal",Not applicable
230800,Toxin-mediated infectious botulism,Clinical subtype,Subtype of disorder,1A11.1,0016468,A05.1,,C5679843,,,,Toxin-mediated infectious botulism,All ages,
230845,Vascular-like classical Ehlers-Danlos syndrome,Disease,Disorder,,,,,,,,,,,
82,Hereditary thrombophilia due to congenital antithrombin deficiency,Disease,Disorder,3B61.0Y,0013144,D68.5,613118,C2586031,,,6148,Hereditary thrombophilia due to congenital antithrombin deficiency,"Adolescent, Adult",Autosomal dominant
230839,Classical-like Ehlers-Danlos syndrome type 1,Disease,Disorder,LD28.1Y,0011670,Q79.6,606408,C1848029,C536193,,8507,Classical-like Ehlers-Danlos syndrome type 1,"Childhood, Infancy, Neonatal",Autosomal recessive
2284,OBSOLETE: Primary T cell immunodeficiency,Disease,Disorder,,,,,,,,,,,
519,Acute myeloid leukemia,Clinical group,Group of disorders,2A60,0018874,C92.0,601626,C0023467,D015470,10000880,12757,Acute myeloid leukemia,All ages,
233655,Rare genetic vascular disease,Category,Group of disorders,,,,,C5680923,,,,,,
235835,OBSOLETE: Congenital vascular bone syndrome with limb overgrowth,Category,Group of disorders,,,,,,,,,,,
235832,Congenital vascular bone syndrome,Clinical group,Group of disorders,LD26.6,,,,C5680924,,,,,,
235936,Familial hyperaldosteronism,Clinical group,Group of disorders,,0016525,,,C3713420,C580087,,,Familial hyperaldosteronism,All ages,Autosomal dominant
235838,OBSOLETE: Congenital vascular bone syndrome with limb shortening,Category,Group of disorders,,,,,,,,,,,
238305,Infundibulo-neurohypophysitis,Disease,Disorder,5A61.5,0016534,E23.6,,C5190834,,,,,,
238269,AApoAII amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0016533,E85.0,,C5679845,,,,AApoAII amyloidosis,,Autosomal dominant
238446,15q11q13 microduplication syndrome,Malformation syndrome,Disorder,LD41.E,0012081,Q92.3,608636,C2675336,C557830,,,15q11q13 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
238329,Severe X-linked mitochondrial encephalomyopathy,Disease,Disorder,5C53.23,0010437,E88.8,300816,C4302745,,,,Severe X-linked mitochondrial encephalomyopathy,"Infancy, Neonatal",X-linked recessive
231573,Congenital erosive and vesicular dermatosis,Disease,Disorder,KC31,0016503,Q82.8,,C4751164,,,,Congenital erosive and vesicular dermatosis,"Infancy, Neonatal",Not applicable
231580,Primary unilateral adrenal hyperplasia,Disease,Disorder,5A72.0,0016504,E26.0,,C4274967,,,,Primary unilateral adrenal hyperplasia,All ages,Not applicable
231556,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,Disease,Disorder,,0009177,Q81.8,226440,C4751165,,,299,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,Childhood,Unknown
231568,Autosomal dominant generalized dystrophic epidermolysis bullosa,Disease,Disorder,,7549,Q81.2,131750,C5679846,,,2139,Autosomal dominant generalized dystrophic epidermolysis bullosa,"Infancy, Neonatal",Autosomal dominant
231632,Ectopic aldosterone-producing tumor,Disease,Disorder,5A72.0,0016506,E26.8,,C4755311,,,,Ectopic aldosterone-producing tumor,All ages,Not applicable
231637,Rare surgically correctable form of primary aldosteronism,Category,Group of disorders,,,,,C5680925,,,,Rare surgically correctable form of primary aldosteronism,All ages,Not applicable
231625,Adrenocortical carcinoma with pure aldosterone hypersecretion,Disease,Disorder,5A72.0,16505,C74.0,,C3839852,,,,Adrenocortical carcinoma with pure aldosterone hypersecretion,All ages,Not applicable
1900,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,Clinical subtype,Subtype of disorder,LD28.1Y,0016002,Q79.6,225400,C0268342,,,,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,"Infancy, Neonatal",Autosomal recessive
231671,Isolated growth hormone deficiency type IB,Clinical subtype,Subtype of disorder,5A61.3,0013006,E23.0,612781,C2748571,C567564,,3919,Isolated growth hormone deficiency type IB,"Infancy, Neonatal",Autosomal recessive
286,Vascular Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0017314,Q79.6,130050,C0268338,D000094623,,2082,Vascular Ehlers-Danlos syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
231679,Isolated growth hormone deficiency type II,Clinical subtype,Subtype of disorder,5A61.3,0008250,E23.0,173100,C0271567,C562704,,1696,Isolated growth hormone deficiency type II,"Infancy, Neonatal",Autosomal dominant
231641,Rare non surgically correctable form of primary aldosteronism,Category,Group of disorders,,,,,C5680926,,,,Rare non surgically correctable form of primary aldosteronism,,"Autosomal dominant, Not applicable"
285,Hypermobile Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0007523,Q79.6,130020,C0268337,C536196,,2081,Hypermobile Ehlers-Danlos syndrome,All ages,"Autosomal dominant, Autosomal recessive"
231662,Isolated growth hormone deficiency type IA,Clinical subtype,Subtype of disorder,5A61.3,0009876,E23.0,618160,,,,7399,Isolated growth hormone deficiency type IA,"Infancy, Neonatal",Autosomal recessive
231736,Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,Malformation syndrome,Disorder,LA10.Y,0016509,Q15.8,,C4751163,,,10938,Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,"Infancy, Neonatal",Unknown
231742,Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,Malformation syndrome,Disorder,,0016510,Q83.3,,C5680927,,,,Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,"Infancy, Neonatal",Autosomal dominant
257,Epidermolysis bullosa simplex with muscular dystrophy,Disease,Disorder,EC30,0009181,Q81.0,226670,C2931072,,,2137,Epidermolysis bullosa simplex with muscular dystrophy,"Infancy, Neonatal",Autosomal recessive
1901,Dermatosparaxis Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0009161,Q79.6,225410,C2700425,,,2089,Dermatosparaxis Ehlers-Danlos syndrome,"Infancy, Neonatal",Autosomal recessive
231692,Isolated growth hormone deficiency type III,Clinical subtype,Subtype of disorder,5A61.3,0010615,E23.0,300123,,,,3921,Isolated growth hormone deficiency type III,"Infancy, Neonatal",X-linked recessive
231720,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,Malformation syndrome,Disorder,5A61.0,,E23.0,221750,C4749825,,,10603,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,"Infancy, Neonatal",Autosomal recessive
1899,Arthrochalasia Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0007525,Q79.6,617821,C0268345,,,2084,Arthrochalasia Ehlers-Danlos syndrome,"Infancy, Neonatal",Autosomal dominant
839,"Congenital nephrotic syndrome, Finnish type",Disease,Disorder,GB4Z,0009732,N04.8,256300,C0403399,C535761,10060740,1500,"Congenital nephrotic syndrome, Finnish type","Antenatal, Infancy, Neonatal",Autosomal recessive
232035,Infectious embryofetopathy,Category,Group of disorders,LD2F.Y,0016511,,,C5439342,,,,,,
531,Miller-Dieker syndrome,Malformation syndrome,Disorder,LD20.1,0009532,Q04.3,247200,C0265219,D054221,10068361,3669,Miller-Dieker syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
3394,Soft tissue sarcoma,Clinical group,Group of disorders,,0018078,,,,,10075333,4898,,,
1084,Isolated lissencephaly type 1 without known genetic defects,Disease,Disorder,LD20.1,0015205,Q04.3,,C4275151,,,,Isolated lissencephaly type 1 without known genetic defects,"Infancy, Neonatal",Unknown
232288,Syndrome with alpha-thalassemia as a major feature,Category,Group of disorders,,,,,C5680928,,,,,,
1083,Microlissencephaly,Morphological anomaly,Disorder,LD20.1,0015204,Q04.3,616212,C1956147,,,,Microlissencephaly,"Infancy, Neonatal",Autosomal recessive
452,X-linked lissencephaly with abnormal genitalia,Malformation syndrome,Disorder,LD20.1,0010268,Q04.3,300215,C1846171,C564563,,12491,X-linked lissencephaly with abnormal genitalia,Neonatal,X-linked recessive
238750,4q21 microdeletion syndrome,Malformation syndrome,Disorder,LD44.40,0013292,Q93.5,613509,C4304530,,,,4q21 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
238755,OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H,Disease,Disorder,,,,,,,,,,,
238763,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,Malformation syndrome,Disorder,LA11.1,0016559,Q15.8,251750,C5190883,,,10942,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,"Infancy, Neonatal",Autosomal recessive
238696,Transient congenital hypothyroidism due to maternal factor,Category,Group of disorders,,0016555,,,C5680929,,,,,,
238699,Transient congenital hypothyroidism due to neonatal factor,Category,Group of disorders,,0016556,P72.2,,C5680930,,,,,,
238722,Familial congenital mirror movements,Disease,Disorder,8A0Y,0016558,G25.8,616059,C5191311,,,12551,Familial congenital mirror movements,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
238744,Mammary-digital-nail syndrome,Malformation syndrome,Disorder,,0013368,Q87.2,613689,C3150946,,,,Mammary-digital-nail syndrome,"Infancy, Neonatal",Autosomal dominant
238766,Ptosis-syndactyly-learning difficulties syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
238769,1q44 microdeletion syndrome,Malformation syndrome,Disorder,LD44.10,0016561,Q93.5,,C4304540,,,10943,1q44 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
238510,OBSOLETE: Lymphoproliferative syndrome,Clinical group,Group of disorders,,,,,,,,,,,
238517,Hypotonia-cystinuria type 1 syndrome,Clinical group,Group of disorders,GB90.40,,,,C5680931,,,,Hypotonia-cystinuria type 1 syndrome,"Infancy, Neonatal",Autosomal recessive
238505,Combined immunodeficiency due to CD27 deficiency,Disease,Disorder,,,D47.9,615122,C3554540,,,,Combined immunodeficiency due to CD27 deficiency,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
238468,Hypohidrotic ectodermal dysplasia,Disease,Disorder,LD27.02,0016535,Q82.4,614941,C5848103,,,76,Hypohidrotic ectodermal dysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
238475,Familial hypercholanemia,Disease,Disorder,,,E88.8,607748,C1843139,,,,Familial hypercholanemia,"Infancy, Neonatal",Autosomal recessive
238455,Infantile dystonia-parkinsonism,Disease,Disorder,8A02.12,0013150,G24.8,619738,C2751067,C567730,,10484,Infantile dystonia-parkinsonism,"Infancy, Neonatal",Autosomal recessive
238459,SLC35A1-CDG,Disease,Disorder,5C54.2,0011342,E77.8,603585,C1970344,C567040,,12409,SLC35A1-CDG,"Infancy, Neonatal",No data available
238578,Familial clubfoot due to 17q23.1q23.2 microduplication,Etiological subtype,Subtype of disorder,LD41.G0,0013329,Q66.8,613618,C3150880,,,,Familial clubfoot due to 17q23.1q23.2 microduplication,"Infancy, Neonatal","Autosomal dominant, Not applicable"
238583,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,Disease,Disorder,,0016543,E70.1,261640,C0751436,,,7751,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,"Infancy, Neonatal",Autosomal recessive
238557,Chuvash erythrocytosis,Disease,Disorder,3A80.0,0009892,D75.1,263400,C4749274,,,,Chuvash erythrocytosis,"Infancy, Neonatal",Autosomal recessive
238569,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,Disease,Disorder,4A6Y,0016542,K52.8,613148,C4749850,,,13016,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,"Infancy, Neonatal",Autosomal recessive
238547,Acquired secondary polycythemia,Category,Group of disorders,,0016541,,,C1318533,,,,Acquired secondary polycythemia,All ages,Not applicable
238523,Atypical hypotonia-cystinuria syndrome,Disease,Disorder,GB90.40,0016539,E72.0,606407,C4755274,,,,Atypical hypotonia-cystinuria syndrome,"Infancy, Neonatal",Autosomal recessive
238536,Congenital secondary polycythemia,Category,Group of disorders,,0016540,,,C5679848,,,,Congenital secondary polycythemia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
238637,Megacystis-megaureter syndrome,Disease,Disorder,LB31.7,0016548,Q62.7,,C0431752,,,,Megacystis-megaureter syndrome,"Infancy, Neonatal",
238624,Idiopathic intracranial hypertension,Disease,Disorder,8D60.Y,0009468,G93.2,243200,C0033845,D011559,10078904,4561,Idiopathic intracranial hypertension,"Adult, Elderly",Not applicable
238621,Ileal pouch anal anastomosis related faecal incontinence,Particular clinical situation in a disease or syndrome,Disorder,DE2Y,,K91.8,,C5680932,,,,Ileal pouch anal anastomosis related faecal incontinence,All ages,Not applicable
238616,NON RARE IN EUROPE: Alzheimer disease,Disease,Disorder,,,,,,,,,,,
238613,OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation,Etiological subtype,Subtype of disorder,,,,,,,,,,,
238606,Primary orthostatic tremor,Disease,Disorder,8A04.1,0016546,G25.2,,C0878578,C536418,,8563,Primary orthostatic tremor,Adult,Not applicable
238593,IgG4-related mesenteritis,Clinical subtype,Subtype of disorder,4A43.0,0016544,K65.8,,C0267770,,10063031,8169,IgG4-related mesenteritis,Adult,Not applicable
238691,OBSOLETE: Congenital liver hemangioma,Disease,Disorder,,,,,,,,,,,
238688,Neonatal iodine exposure,Disease,Disorder,5A00.03,0016554,P72.2,,C4751432,,,,Neonatal iodine exposure,"Infancy, Neonatal",Not applicable
238670,Isolated thyrotropin-releasing hormone deficiency,Disease,Disorder,5A00.01,0010140,E03.1,275120,C0271585,,,,Isolated thyrotropin-releasing hormone deficiency,All ages,Unknown
238666,Isolated congenital hypogonadotropic hypogonadism,Disease,Disorder,5A61.0,0016553,E23.0,,C5679849,,,,Isolated congenital hypogonadotropic hypogonadism,"Adolescent, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Oligogenic, Unknown, X-linked recessive"
238654,"Congenital primary megaureter, nonrefluxing and unobstructed form",Clinical subtype,Subtype of disorder,LB31.1,0016552,Q62.2,,C5680934,,,,"Congenital primary megaureter, nonrefluxing and unobstructed form","Infancy, Neonatal",Unknown
238650,"Congenital primary megaureter, refluxing form",Clinical subtype,Subtype of disorder,LB31.1,0016551,Q62.2,,C5680935,,,,"Congenital primary megaureter, refluxing form","Infancy, Neonatal",Unknown
238646,"Congenital primary megaureter, obstructed form",Clinical subtype,Subtype of disorder,LB31.1,0016550,Q62.2,,C5680936,,,,"Congenital primary megaureter, obstructed form","Infancy, Neonatal",Unknown
238642,"Primary megaureter, adult-onset form",Clinical subtype,Subtype of disorder,LB31.1,0016549,Q62.2,,C5680937,,,,"Primary megaureter, adult-onset form",Adult,Unknown
240371,Syndromic obesity,Category,Group of disorders,,,,,C5680938,,,,,,
240266,OBSOLETE: Systemic non-Langerhans cell histiocytosis,Category,Group of disorders,,,,,,,,,,,
240071,Classic progressive supranuclear palsy syndrome,Clinical subtype,Subtype of disorder,8A00.10,0010997,G23.1,610898,,,,,Classic progressive supranuclear palsy syndrome,Adult,Not applicable
240112,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,Clinical subtype,Subtype of disorder,8A00.10,0016564,G23.1,260540,C5679850,,,,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,Adult,Not applicable
240103,Progressive supranuclear palsy-corticobasal syndrome,Clinical subtype,Subtype of disorder,8A00.10,0016563,G23.1,260540,C5548189,,,,Progressive supranuclear palsy-corticobasal syndrome,Adult,Not applicable
240094,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,Clinical subtype,Subtype of disorder,8A00.10,0016562,G23.1,260540,C5679851,,,,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,Adult,Not applicable
240085,Progressive supranuclear palsy-predominant parkinsonism syndrome,Clinical subtype,Subtype of disorder,8A00.10,0009839,G23.1,260540,C5548370,,,,Progressive supranuclear palsy-predominant parkinsonism syndrome,Adult,Not applicable
240760,Nijmegen breakage syndrome-like disorder,Malformation syndrome,Disorder,4A01.31,0013118,Q87.8,613078,C2751318,C567767,,,Nijmegen breakage syndrome-like disorder,Neonatal,Autosomal recessive
331226,Susceptibility to infection due to TYK2 deficiency,Disease,Disorder,,0012682,D82.4,611521,C1969086,C566928,,,Susceptibility to infection due to TYK2 deficiency,Infancy,Autosomal recessive
331223,Hyper-IgE syndrome,Clinical group,Group of disorders,4A01.34,0018037,,,C3887645,,10051040,10956,,,
331235,Selective IgM deficiency,Disease,Disorder,4A01.04,0018039,D80.4,,C0154275,,10039916,12547,Selective IgM deficiency,All ages,
331232,Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells,Category,Group of disorders,,,,,C5680939,,,,,,
331244,OBSOLETE: Other immunodeficiency syndrome with predominantly antibody defects,Category,Group of disorders,,,,,,,,,,,
331240,Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells,Category,Group of disorders,4A01.05,,,,C5680941,,,,,,
331249,Primary hemophagocytic lymphohistiocytosis with hypopigmentation,Category,Group of disorders,4A01.20,,,,C5925007,,,,,,
331176,Severe congenital neutropenia due to G6PC3 deficiency,Disease,Disorder,4B00.00,0012930,D70,612541,C2751630,C567260,,,Severe congenital neutropenia due to G6PC3 deficiency,"Infancy, Neonatal",Autosomal recessive
331184,Syndrome with congenital neutropenia as a major feature,Category,Group of disorders,,,,,C5925008,,,,,,
331187,Immunodeficiency due to MASP-2 deficiency,Disease,Disorder,4A00.1Y,0013423,D84.1,613791,C4749651,,,,Immunodeficiency due to MASP-2 deficiency,Adolescent,Autosomal recessive
331190,Immunodeficiency due to ficolin3 deficiency,Disease,Disorder,4A00.1Y,0013467,D84.1,613860,C4707940,,,,Immunodeficiency due to ficolin3 deficiency,Childhood,Autosomal recessive
331193,Other immunodeficiency syndromes due to defects in innate immunity,Category,Group of disorders,,,,,C5680945,,,,,,
331206,Severe combined immunodeficiency due to complete RAG1/2 deficiency,Disease,Disorder,,0011086,D81.1,601457,C4707355,,,10339,Severe combined immunodeficiency due to complete RAG1/2 deficiency,Infancy,Autosomal recessive
331217,Syndrome with combined immunodeficiency,Category,Group of disorders,,,,,C2711630,,,,,,
331220,Syndome with combined immunodeficiency due to thymic defect,Category,Group of disorders,,,,,C5925009,,,,,,
330206,Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability,Category,Group of disorders,,,,,C5679853,,,,,,
330197,OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome,Category,Group of disorders,,,,,,,,,,,
330064,Chronic actinic dermatitis,Disease,Disorder,EJ30.1,0018025,L57.1,,C0282309,,,,Chronic actinic dermatitis,Adult,Not applicable
329998,OBSOLETE: Lymphomatous meningitis,Particular clinical situation in a disease or syndrome,Disorder,,,,,,,,,,,
330001,Wild type ATTR amyloidosis,Disease,Disorder,BC43.20,0018018,E85.8,,C0342623,,,,Wild type ATTR amyloidosis,"Adult, Elderly",Not applicable
329977,Classic neuroendocrine tumor of appendix,Clinical subtype,Subtype of disorder,,0018016,D37.3,,C5679854,,,,Classic neuroendocrine tumor of appendix,All ages,Not applicable
329984,Goblet cell carcinoma,Clinical subtype,Subtype of disorder,,0018017,C18.1,,C0205695,,,10414,Goblet cell carcinoma,Adult,Not applicable
330012,High altitude pulmonary edema,Particular clinical situation in a disease or syndrome,Disorder,CB01,0031257,J81,,C0340100,C535833,,,High altitude pulmonary edema,All ages,
330015,Lead poisoning,Disease,Disorder,NE61,0018019,T56.0,,C0023176,D007855,,,Lead poisoning,All ages,Not applicable
330006,NON RARE IN EUROPE: Macular telangiectasia type 2,Disease,Disorder,,,,,,,,,,,
330009,OBSOLETE: Poliomyelitis in patients with immunodeficiencies deemed at risk,Particular clinical situation in a disease or syndrome,Disorder,,,,,,,,,,,
330032,Hemoglobin Lepore-beta-thalassemia syndrome,Disease,Disorder,3A50.2,0018022,D56.8,,C5679855,,,,Hemoglobin Lepore-beta-thalassemia syndrome,No data available,Autosomal recessive
330041,Hemoglobin M disease,Disease,Disorder,3A92,0018023,D74.0,617973,C3665425,C581942,,13007,Hemoglobin M disease,No data available,Autosomal dominant
330021,Mercury poisoning,Disease,Disorder,NE61,0018020,T56.1,,C0025427,D008630,,7021,Mercury poisoning,All ages,Not applicable
330029,Hypotrichosis-deafness syndrome,Disease,Disorder,,0018021,H90.5,,C5190988,,,,Hypotrichosis-deafness syndrome,"Infancy, Neonatal",Autosomal dominant
330058,Hydroa vacciniforme,Disease,Disorder,EJ30.Y,0018024,L56.4,,C0020241,D006837,10083442,9654,Hydroa vacciniforme,Childhood,Not applicable
330061,Actinic prurigo,Disease,Disorder,EJ30.Y,0008273,L56.4,174770,C0406217,C566780,10000616,,Actinic prurigo,Childhood,"Multigenic/multifactorial, Not applicable"
330050,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,Etiological subtype,Subtype of disorder,5C5Y,0013726,E88.8,614388,C3280660,,,,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,"Childhood, Infancy, Neonatal",Autosomal dominant
330054,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,Disease,Disorder,,0013116,G71.3,613076,C4750835,,,10522,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,"Infancy, Neonatal",Autosomal recessive
329813,Mosaic genome-wide paternal uniparental disomy syndrome,Malformation syndrome,Disorder,,0018007,Q95.8,,C5190828,,,,Mosaic genome-wide paternal uniparental disomy syndrome,"Antenatal, Neonatal",
329802,5p13 microduplication syndrome,Malformation syndrome,Disorder,,0013169,Q92.3,613174,C4749507,,,,5p13 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
329883,Non-hypoproteinemic hypertrophic gastropathy,Disease,Disorder,DA42.76,0018009,K29.6,,C4750834,,,,Non-hypoproteinemic hypertrophic gastropathy,No data available,Autosomal dominant
329874,Idiopathic giant cell myocarditis,Disease,Disorder,BC42.0,0018008,I40.1,,C0264856,,,,Idiopathic giant cell myocarditis,"Adolescent, Adult, Childhood, Infancy",
329475,Spastic paraplegia-Paget disease of bone syndrome,Disease,Disorder,,0018005,G11.4,,C4511969,,,,Spastic paraplegia-Paget disease of bone syndrome,Adult,Autosomal dominant
329481,Lipoprotein glomerulopathy,Disease,Disorder,MF82,0012725,N07.8,611771,C2673196,C567089,,,Lipoprotein glomerulopathy,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
329478,Adult-onset distal myopathy due to VCP mutation,Disease,Disorder,,0018006,G71.0,,C4749506,,,,Adult-onset distal myopathy due to VCP mutation,Adult,Autosomal dominant
329942,Transient neonatal multiple acyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0018014,E71.3,,C4509950,,,,Transient neonatal multiple acyl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal dominant
329931,C3 glomerulonephritis,Histopathological subtype,Subtype of disorder,MF8Y,0013892,N03.5,614809,C4055342,,,,C3 glomerulonephritis,,Autosomal dominant
329971,Generalized juvenile polyposis/juvenile polyposis coli,Clinical subtype,Subtype of disorder,2B90.Y,0008276,D12.6,175050,C5680947,,,,Generalized juvenile polyposis/juvenile polyposis coli,All ages,Autosomal dominant
329967,Intermittent hydrarthrosis,Disease,Disorder,FA27.4,0018015,M12.4,,C0149910,,,,Intermittent hydrarthrosis,Adult,
329894,Juvenile overlap myositis,Disease,Disorder,,0018011,M33.0,,C4707728,,,,Juvenile overlap myositis,"Adolescent, Childhood",
329888,Juvenile idiopathic inflammatory myopathy,Category,Group of disorders,,0018010,,,C5679857,,,,,,
329918,C3 glomerulopathy,Clinical subtype,Subtype of disorder,MF8Y,0018013,N03.5,614809,C4087273,,10077827,,C3 glomerulopathy,All ages,Multigenic/multifactorial
329903,Immunoglobulin-mediated membranoproliferative glomerulonephritis,Clinical subtype,Subtype of disorder,,0014005,N03.5,615008,C5679858,,,,Immunoglobulin-mediated membranoproliferative glomerulonephritis,,"Multigenic/multifactorial, Unknown"
329308,Fatty acid hydroxylase-associated neurodegeneration,Disease,Disorder,,0017999,G23.0,612319,C3668943,C580102,,10810,Fatty acid hydroxylase-associated neurodegeneration,"Adolescent, Childhood",Autosomal recessive
329314,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,Disease,Disorder,,0014899,G71.3,617070,C4518838,,,,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,Adult,Autosomal recessive
329319,Thrombocythemia with distal limb defects,Disease,Disorder,,0018000,Q87.2,,C4749944,,,,Thrombocythemia with distal limb defects,"Infancy, Neonatal",Autosomal dominant
329324,Inverse Klippel-Trénaunay syndrome,Disease,Disorder,,0018001,,,C5679859,,,,,,
329284,Beta-propeller protein-associated neurodegeneration,Disease,Disorder,,0010476,G23.0,300894,C3550973,,,12570,Beta-propeller protein-associated neurodegeneration,Childhood,X-linked dominant
329303,PLA2G6-associated neurodegeneration,Clinical group,Group of disorders,,0017998,,,,,,,,,
329457,Distal arthrogryposis type 5D,Disease,Disorder,,0014028,Q68.8,615065,C3554415,,,,Distal arthrogryposis type 5D,Neonatal,Autosomal recessive
329466,"Autosomal dominant focal dystonia, DYT25 type",Disease,Disorder,,0014033,G24.1,615073,C4304670,,,10667,"Autosomal dominant focal dystonia, DYT25 type",Adult,Autosomal dominant
329469,Acute megakaryoblastic leukemia in children without Down syndrome,Clinical subtype,Subtype of disorder,2A60.36,0018004,C94.2,,C5679860,,,,Acute megakaryoblastic leukemia in children without Down syndrome,Childhood,Not applicable
329329,Autosomal recessive frontotemporal pachygyria,Malformation syndrome,Disorder,,0012462,Q04.3,,C1853215,C538092,,,Autosomal recessive frontotemporal pachygyria,"Infancy, Neonatal",Autosomal recessive
329332,Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,Malformation syndrome,Disorder,,0013735,Q87.8,614407,C3280692,,,,Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,"Infancy, Neonatal",Autosomal recessive
329336,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,Disease,Disorder,,0018002,G71.3,616479,C4511138,,,,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,Adult,"Autosomal dominant, Mitochondrial inheritance"
329341,OBSOLETE: Limbic encephalitis with DPP6 antibodies,Disease,Disorder,,,,,,,,,,,
329228,Microcephalic primordial dwarfism due to ZNF335 deficiency,Malformation syndrome,Disorder,LD24.D,0014043,Q87.1,615095,C4510378,,,,Microcephalic primordial dwarfism due to ZNF335 deficiency,"Antenatal, Neonatal",Autosomal recessive
329224,Schuurs-Hoeijmakers syndrome,Malformation syndrome,Disorder,,0014006,Q87.0,615009,C3554343,,10089146,13043,Schuurs-Hoeijmakers syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
329217,Cerebral sinovenous thrombosis,Disease,Disorder,8B22.1,0017993,G08,,C0338573,,10083037,,Cerebral sinovenous thrombosis,All ages,
329211,Autosomal dominant neovascular inflammatory vitreoretinopathy,Disease,Disorder,9B72.Y,0100450,H35.2,193235,C4721549,,,,Autosomal dominant neovascular inflammatory vitreoretinopathy,All ages,Autosomal dominant
329206,OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome,Disease,Disorder,,,,,,,,,,,
329195,Developmental delay with autism spectrum disorder and gait instability,Disease,Disorder,,0014224,F84.8,615516,C4749505,,,,Developmental delay with autism spectrum disorder and gait instability,"Infancy, Neonatal",Autosomal recessive
329191,Tall stature-long halluces-multiple extra-epiphyses syndrome,Disease,Disorder,LD2C,0014401,Q87.3,615923,C4749503,,,,Tall stature-long halluces-multiple extra-epiphyses syndrome,Childhood,Autosomal dominant
329178,Congenital muscular dystrophy with intellectual disability and severe epilepsy,Disease,Disorder,,0014023,E77.8,615042,C5190603,,,12416,Congenital muscular dystrophy with intellectual disability and severe epilepsy,"Infancy, Neonatal",Autosomal recessive
329258,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,Disease,Disorder,,0014012,G60.0,615025,C3554366,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,"Adolescent, Adult",Autosomal dominant
329255,Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency,Disease,Disorder,,,,,,,,,,,
329252,OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome,Disease,Disorder,,,,,,,,,,,
329249,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0017994,E66.8,,C5190989,,,,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,Childhood,Autosomal dominant
329242,Congenital chronic diarrhea with protein-losing enteropathy,Disease,Disorder,DA96.Y,,P78.3,615863,C4751003,,,,Congenital chronic diarrhea with protein-losing enteropathy,"Infancy, Neonatal",Autosomal recessive
329235,X-linked central congenital hypothyroidism with late-onset testicular enlargement,Disease,Disorder,5A61.41,0010475,E03.1,300888,C4749943,,,,X-linked central congenital hypothyroidism with late-onset testicular enlargement,"Infancy, Neonatal",X-linked recessive
328269,OBSOLETE: Rare bone disease with limb reduction defect,Category,Group of disorders,,,,,,,,,,,
329173,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,Disease,Disorder,,0017992,D89.8,620632,C5394674,,,,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,"Infancy, Neonatal",Autosomal recessive
325697,"Genetic 46,XX difference of sex development",Category,Group of disorders,,,,,,,,,,,
325690,Genetic difference of sex development,Category,Group of disorders,,,,,C5679861,,,,,,
325713,"Genetic 46,XY difference of sex development of endocrine origin",Category,Group of disorders,,,,,C5679862,,,,,,
325706,"Genetic 46,XY difference of sex development",Category,Group of disorders,,,,,C5679863,,,,,,
325638,Syndrome with difference of sex development of gynecological interest,Category,Group of disorders,,,,,C5679864,,,,,,
325665,Genetic difference of sex development of gynecological interest,Category,Group of disorders,,,,,C5679865,,,,,,
325620,Difference of sex development of gynecological interest,Category,Group of disorders,,,,,C5679866,,,,,,
325632,"46,XY difference of sex development of gynecological interest",Category,Group of disorders,,,,,C5679867,,,,,,
329,Congenital factor XI deficiency,Disease,Disorder,3B13,0012897,D68.1,612416,C0015523,D005173,10016082,9670,Congenital factor XI deficiency,All ages,"Autosomal dominant, Autosomal recessive"
1243,Best vitelliform macular dystrophy,Disease,Disorder,9B70,0007931,H35.5,153700,C2745945,,,182,Best vitelliform macular dystrophy,"Adolescent, Childhood",Autosomal dominant
325511,"46,XY difference of sex development due to a cholesterol synthesis defect",Category,Group of disorders,,,,,C5679868,,,,,,
325524,Classic congenital lipoid adrenal hyperplasia due to STAR deficency,Clinical subtype,Subtype of disorder,5A71.01,0017972,E25.0,,C5679869,,,,Classic congenital lipoid adrenal hyperplasia due to STAR deficency,,Autosomal recessive
325357,"46,XY difference of sex development due to impaired androgen production",Category,Group of disorders,,,,,C5679870,,,,,,
325448,Leydig cell hypoplasia due to LHB deficiency,Clinical subtype,Subtype of disorder,LD2A.3,0009223,Q56.1,228300,,,,10127,Leydig cell hypoplasia due to LHB deficiency,,Autosomal recessive
325546,Sex chromosome difference of sex development,Category,Group of disorders,,0017975,,,C2936421,D058533,,,,,
325529,Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,Clinical subtype,Subtype of disorder,5A71.01,0017973,E25.0,,C5680948,,,,Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,,Autosomal recessive
325537,"46,XY difference of sex development induced by maternal exposure to endocrine disruptors",Category,Group of disorders,,,,,C5679871,,,,,,
325124,Testicular agenesis,Morphological anomaly,Disorder,LD2A.2,0017967,Q55.0,,C1261504,C537770,10002641,5819,Testicular agenesis,Neonatal,
325118,"46,XY disorder of gonadal development",Category,Group of disorders,,,,,C5680949,,,,,,
325351,"46,XY difference of sex development of endocrine origin",Category,Group of disorders,,,,,C5679872,,,,,,
325345,"46,XY ovotesticular difference of sex development",Disease,Disorder,LD2A.0,0017968,Q56.0,,C2697358,,,,"46,XY ovotesticular difference of sex development","Antenatal, Neonatal",
325055,"46,XX disorder of gonadal development",Category,Group of disorders,,,,,C5680950,,,,,,
325109,"Syndrome with 46,XX difference of sex development",Category,Group of disorders,,,,,C5679873,,,,,,
325099,"46,XX difference of sex development induced by exogenous maternal-derived androgen",Clinical group,Group of disorders,,,,,C5679874,,,,,,
325093,"46,XX difference of sex development induced by endogenous maternal-derived androgen",Clinical group,Group of disorders,,,,,C5679875,,,,,,
325061,"46,XX difference of sex development induced by fetoplacental androgens excess",Category,Group of disorders,,,,,C5679876,,,,,,
324982,OBSOLETE: Adult-onset SAPHO syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
324989,OBSOLETE: Juvenile-onset SAPHO syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
324999,JMP syndrome,Clinical subtype,Subtype of disorder,,,,,,,,10988,,,
325004,CANDLE syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
324960,Unexplained periodic fever syndrome of childhood,Category,Group of disorders,,,,,C5680951,,,,,,
324964,Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,Disease,Disorder,4A6Y,,M86.3,259680,C5679877,,,6108,Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,"Adolescent, Childhood",Not applicable
324972,MAGIC syndrome,Disease,Disorder,,0017958,D89.8,,C0406568,,10078132,13371,MAGIC syndrome,"Adolescent, Adult, Childhood",
324977,Proteasome-associated autoinflammatory syndrome,Disease,Disorder,4A60.Y,0009726,D89.8,256040,,,,,Proteasome-associated autoinflammatory syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
324939,Periodic fever syndrome of childhood,Category,Group of disorders,,0957403,,,C5680952,,,,,,
324942,Pyogenic autoinflammatory syndrome of childhood,Category,Group of disorders,,0957404,,,C5680953,,,,,,
324950,Granulomatous autoinflammatory syndrome of childhood,Category,Group of disorders,,0957405,,,C5680954,,,,,,
324953,Unclassified autoinflammatory syndrome of childhood,Category,Group of disorders,,,,,C5680955,,,,,,
324927,Pyogenic autoinflammatory syndrome,Category,Group of disorders,,,,,C5680956,,,,,,
324930,Granulomatous autoinflammatory syndrome,Category,Group of disorders,,,,,C5680957,,,,,,
324933,Mixed autoinflammatory and autoimmune syndrome,Category,Group of disorders,,,,,C5680958,,,,,,
324936,Unclassified autoinflammatory syndrome,Category,Group of disorders,,,,,C5680959,,,,Unclassified autoinflammatory syndrome,"Antenatal, Infancy, Neonatal",
324764,Trichorhinophalangeal syndrome,Clinical group,Group of disorders,,0017951,,,C0265255,,10051956,,,,
324761,Microcephalic primordial dwarfism,Clinical group,Group of disorders,,,,,,,,,,,
324924,Hereditary periodic fever syndrome,Category,Group of disorders,,0017953,,,,,,,,,
324767,Non-familial rare disease with dilated cardiomyopathy,Category,Group of disorders,,,,,C5680960,,,,,,
324718,ABetaA21G amyloidosis,Clinical subtype,Subtype of disorder,8B22.3,0017948,I68.0*,605714,C5679878,,,,ABetaA21G amyloidosis,Adult,Autosomal dominant
324713,"ABeta amyloidosis, Italian type",Clinical subtype,Subtype of disorder,8B22.3,0017947,E85.4+,605714,C5679879,,,,"ABeta amyloidosis, Italian type","Adult, Elderly",Autosomal dominant
324737,SRD5A3-CDG,Disease,Disorder,5C54.0,0012885,E77.8,612379,C4317224,,,12397,SRD5A3-CDG,"Infancy, Neonatal",Autosomal recessive
324723,"ABeta amyloidosis, Arctic type",Clinical subtype,Subtype of disorder,8B22.3,0017949,I68.0*,605714,C5679880,,,,"ABeta amyloidosis, Arctic type","Adult, Elderly",Autosomal dominant
324648,Invasive non-typhoidal salmonellosis,Disease,Disorder,1A09.Y,0017944,A02.8,,C4706572,,,,Invasive non-typhoidal salmonellosis,All ages,
324636,Autoerythrocyte sensitization syndrome,Disease,Disorder,ED02,0017943,D69.2,,C0301928,C535645,10078888,6481,Autoerythrocyte sensitization syndrome,Adult,
324708,"ABeta amyloidosis, Iowa type",Clinical subtype,Subtype of disorder,8B22.3,0017946,I68.0*,605714,C5679881,,,,"ABeta amyloidosis, Iowa type",Elderly,Autosomal dominant
324703,ABetaL34V amyloidosis,Clinical subtype,Subtype of disorder,8B22.3,0017945,I68.0*,605714,C5679882,,,,ABetaL34V amyloidosis,"Adult, Elderly",Autosomal dominant
324611,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,Disease,Disorder,,0017940,G60.0,,C4707173,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal dominant
324604,Classic multiminicore myopathy,Clinical subtype,Subtype of disorder,8C72.0Y,0017939,G71.2,602771,C5679883,,,13661,Classic multiminicore myopathy,"Infancy, Neonatal",Autosomal recessive
324632,Hendra virus infection,Disease,Disorder,1D63,0017942,B33.8,,C4505487,,,,Hendra virus infection,All ages,
324625,Chikungunya,Disease,Disorder,1D40,0017941,A92.0,,C0008055,D065632,10067256,6038,Chikungunya,All ages,Not applicable
324588,Familial dyskinesia and facial myokymia,Disease,Disorder,,0800028,G51.4,606703,C1847627,C564676,,12722,Familial dyskinesia and facial myokymia,Childhood,Autosomal dominant
324601,X-linked cleft palate and ankyloglossia,Malformation syndrome,Disorder,,,Q38.6,303400,C4707825,,,1394,X-linked cleft palate and ankyloglossia,"Infancy, Neonatal","X-linked dominant, X-linked recessive"
324581,Benign Samaritan congenital myopathy,Disease,Disorder,,0017936,G71.2,,C4749502,,,,Benign Samaritan congenital myopathy,"Infancy, Neonatal",Autosomal recessive
324585,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,Disease,Disorder,8C20.2,0017937,G60.0,,C4755257,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,All ages,Autosomal dominant
324569,Pontocerebellar hypoplasia type 8,Malformation syndrome,Disorder,,0013990,Q04.3,614961,C3554209,,,,Pontocerebellar hypoplasia type 8,"Infancy, Neonatal",Autosomal recessive
324575,Hyperinsulinism due to HNF1A deficiency,Disease,Disorder,,0017935,E16.1,,C4303475,,,,Hyperinsulinism due to HNF1A deficiency,"Infancy, Neonatal",Autosomal dominant
324540,Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,Malformation syndrome,Disorder,,0017934,Q87.0,,C4751006,,,,Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
324561,Hypopigmentation-punctate palmoplantar keratoderma syndrome,Disease,Disorder,,0014227,Q82.8,615522,C3809781,,,12384,Hypopigmentation-punctate palmoplantar keratoderma syndrome,"Infancy, Neonatal",Autosomal dominant
324530,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,Disease,Disorder,,0013944,D89.8,614878,C3553961,,,,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,"Infancy, Neonatal",Autosomal dominant
324535,Combined oxidative phosphorylation defect type 11,Disease,Disorder,,0013969,E88.8,614922,C5190991,,,,Combined oxidative phosphorylation defect type 11,"Infancy, Neonatal",Autosomal recessive
324525,Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,Disease,Disorder,5C53.2Y,0017933,E88.8,,C4749942,,,,Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,"Infancy, Neonatal",No data available
324442,Autosomal recessive axonal neuropathy with neuromyotonia,Disease,Disorder,,0007646,G60.0,137200,C5700127,,,12353,Autosomal recessive axonal neuropathy with neuromyotonia,Childhood,Autosomal recessive
324416,Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,Malformation syndrome,Disorder,,0017932,Q87.8,,C4751007,,,,Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,"Infancy, Neonatal",Autosomal dominant
324422,ALG13-CDG,Disease,Disorder,5C54.0,0010472,E77.8,300884,C4317295,,,12401,ALG13-CDG,"Infancy, Neonatal",X-linked recessive
324410,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,Disease,Disorder,LD90,0010473,Q87.8,300886,C4751008,,,,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,"Infancy, Neonatal",X-linked recessive
324381,Hereditary inclusion body myopathy type 4,Disease,Disorder,,0017931,G71.8,,C4749501,,,,Hereditary inclusion body myopathy type 4,Adult,Autosomal dominant
324364,Mixed sclerosing bone dystrophy with extra-skeletal manifestations,Disease,Disorder,LD24.1Y,0017930,M85.8,,C5191052,,,,Mixed sclerosing bone dystrophy with extra-skeletal manifestations,Neonatal,
324353,Congenital achiasma,Morphological anomaly,Disorder,,0017929,H47.4,,C4518345,,,,Congenital achiasma,"Infancy, Neonatal",
324321,Sinoatrial node dysfunction and deafness,Disease,Disorder,BC80.2,0013960,H91.8,614896,C3554018,,,,Sinoatrial node dysfunction and deafness,"Infancy, Neonatal",Autosomal recessive
324313,9p13 microdeletion syndrome,Malformation syndrome,Disorder,,0017928,Q93.5,,C4707097,,,,9p13 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
324307,Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome,Malformation syndrome,Disorder,LD24.C,,Q68.4,,C4707850,,,,Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome,Childhood,Unknown
324299,Multiple paragangliomas associated with polycythemia,Disease,Disorder,3A81.Y,0017926,D75.1,,C5679884,,,,Multiple paragangliomas associated with polycythemia,Childhood,Not applicable
324294,T-cell immunodeficiency with epidermodysplasia verruciformis,Disease,Disorder,,0017925,D84.8,618307,C4749500,,,,T-cell immunodeficiency with epidermodysplasia verruciformis,Childhood,Autosomal recessive
324290,PRDM8-related progressive myoclonus epilepsy,Disease,Disorder,8A61.41,0014717,G40.3,616640,C4518574,,,,PRDM8-related progressive myoclonus epilepsy,Childhood,Autosomal recessive
322126,Genetic tumor of hematopoietic and lymphoid tissues,Category,Group of disorders,,,,,C5680961,,,,,,
324262,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,Clinical subtype,Subtype of disorder,5C50.Y,0013905,G11.1,614831,C3553816,,,,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,"Infancy, Neonatal",Autosomal recessive
319691,"NON RARE IN EUROPE: Partial color blindness, protan type",Disease,Disorder,,,,,,,,,,,
319698,"NON RARE IN EUROPE: Partial color blindness, deutan type",Disease,Disorder,,,,,,,,,,,
319705,NON RARE IN EUROPE: Parkinson disease,Disease,Disorder,,,G20,,,,,,,,
319719,Autoinflammatory syndrome of childhood,Category,Group of disorders,,0957018,,,C5680962,,,,,,
320317,OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome,Category,Group of disorders,,,,,,,,,,,
320332,X-linked pure spastic paraplegia,Clinical group,Group of disorders,,,,,C5680963,,,,,,
320335,Pure or complex hereditary spastic paraplegia,Clinical group,Group of disorders,,0017913,,,C5679885,,,,,,
320342,Pure or complex autosomal dominant spastic paraplegia,Clinical group,Group of disorders,,,,,C5679886,,,,Pure or complex autosomal dominant spastic paraplegia,,Autosomal dominant
320346,Pure or complex autosomal recessive spastic paraplegia,Clinical group,Group of disorders,,,,,C5679887,,,,Pure or complex autosomal recessive spastic paraplegia,,Autosomal recessive
320350,Pure or complex X-linked spastic paraplegia,Clinical group,Group of disorders,,,,,C5679888,,,,,,
320360,MT-ATP6-related mitochondrial spastic paraplegia,Disease,Disorder,8B44.0Y,0017917,G11.4,,C4755299,,,,MT-ATP6-related mitochondrial spastic paraplegia,Adult,Mitochondrial inheritance
320355,Autosomal dominant spastic paraplegia type 41,Disease,Disorder,8B44.00,0013239,G11.4,613364,C3888208,,,,Autosomal dominant spastic paraplegia type 41,"Adolescent, Adult",Autosomal dominant
320370,Autosomal recessive spastic paraplegia type 43,Disease,Disorder,8B44.01,0014024,G11.4,615043,C2680446,,,17473,Autosomal recessive spastic paraplegia type 43,"Adolescent, Childhood",Autosomal recessive
320365,Autosomal dominant spastic paraplegia type 36,Disease,Disorder,8B44.00,0013132,G11.4,613096,C2936879,C567930,,,Autosomal dominant spastic paraplegia type 36,"Adolescent, Adult",Autosomal dominant
320380,Autosomal recessive spastic paraplegia type 54,Disease,Disorder,8B44.01,0014018,G11.4,615033,C3539495,,,17475,Autosomal recessive spastic paraplegia type 54,"Childhood, Infancy",Autosomal recessive
320375,Autosomal recessive spastic paraplegia type 55,Disease,Disorder,8B44.01,0014020,G11.4,615035,C3539506,,,17474,Autosomal recessive spastic paraplegia type 55,Childhood,Autosomal recessive
320391,Autosomal recessive spastic paraplegia type 46,Disease,Disorder,8B44.01,0013737,G11.4,614409,C2828721,,,17476,Autosomal recessive spastic paraplegia type 46,"Childhood, Infancy",Autosomal recessive
320385,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,Disease,Disorder,8C21.Y,0014016,G11.4,615031,C5190860,,,13568,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,Infancy,Autosomal recessive
320401,Autosomal recessive spastic paraplegia type 44,Disease,Disorder,8B44.01,0013179,G11.4,613206,C2750784,C567707,,17478,Autosomal recessive spastic paraplegia type 44,"Adolescent, Adult",Autosomal recessive
320396,Autosomal recessive spastic paraplegia type 45,Disease,Disorder,8B44.01,0013165,G11.4,613162,C3888209,,,17477,Autosomal recessive spastic paraplegia type 45,Infancy,Autosomal recessive
320411,Autosomal recessive spastic paraplegia type 56,Disease,Disorder,8B44.01,0014015,G11.4,615030,C3539507,,,17480,Autosomal recessive spastic paraplegia type 56,"Childhood, Infancy, Neonatal",Autosomal recessive
320406,Spastic paraplegia-optic atrophy-neuropathy syndrome,Disease,Disorder,8B44.01,0012297,G11.4,609541,C1836010,C563702,,,Spastic paraplegia-optic atrophy-neuropathy syndrome,"Childhood, Infancy",Autosomal recessive
319543,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,Category,Group of disorders,,,,,C5679889,,,,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,,Autosomal dominant
319547,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,Disease,Disorder,4A00.2,0017900,D84.8,614889,C4303071,,,,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,"Infancy, Neonatal",Autosomal recessive
319535,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,Category,Group of disorders,,,,,C5679890,,,,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,All ages,Autosomal recessive
319539,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,Category,Group of disorders,,,,,C5679891,,,,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,All ages,Autosomal recessive
319519,Combined oxidative phosphorylation defect type 14,Disease,Disorder,5C53.23,0013986,E88.8,614946,C4755312,,,,Combined oxidative phosphorylation defect type 14,"Infancy, Neonatal",Autosomal recessive
319524,Combined oxidative phosphorylation defect type 15,Disease,Disorder,5C53.23,0013987,E88.8,614947,C4706313,,,,Combined oxidative phosphorylation defect type 15,"Childhood, Infancy",Autosomal recessive
319509,Combined oxidative phosphorylation defect type 9,Disease,Disorder,5C53.23,0013811,E88.8,614582,C4706315,,,,Combined oxidative phosphorylation defect type 9,Infancy,Autosomal recessive
319514,Combined oxidative phosphorylation defect type 13,Disease,Disorder,5C53.23,0013977,E88.8,614932,C4706283,,,,Combined oxidative phosphorylation defect type 13,Infancy,Autosomal recessive
319589,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Disease,Disorder,4A00.2,0017903,D84.8,,C4510875,,,,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Infancy,Autosomal dominant
319595,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,Disease,Disorder,4A00.2,0013956,D84.8,614892,C4509855,,,,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,Childhood,Autosomal dominant
319574,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Disease,Disorder,4A00.2,0017902,D84.8,614889,C4511098,,,,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Infancy,Autosomal recessive
319581,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Disease,Disorder,4A00.2,0014429,D84.8,615978,C4511097,,,,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Adolescent,Autosomal dominant
319563,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,Disease,Disorder,4A00.2,0014502,D84.8,616126,C4509853,,,,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,Childhood,Autosomal recessive
319569,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Disease,Disorder,4A00.2,0017901,D84.8,209950,C4511091,,,,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Infancy,Autosomal recessive
319552,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,Disease,Disorder,4A00.2,0013955,D84.8,614891,C4274793,,,10984,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,Childhood,Autosomal recessive
319558,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,Disease,Disorder,4A00.2,0013954,D84.8,614890,C4303665,,,,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,"Infancy, Neonatal",Autosomal recessive
319651,Constitutional megaloblastic anemia with severe neurologic disease,Disease,Disorder,3A02.Y,0013456,D52.8,613839,C3151205,C565095,,11000,Constitutional megaloblastic anemia with severe neurologic disease,"Childhood, Infancy",Autosomal recessive
319646,PGM1-CDG,Disease,Disorder,5C54.0,0013968,E77.8,614921,C2752015,,,4329,PGM1-CDG,"Infancy, Neonatal",Autosomal recessive
319640,Retinal macular dystrophy type 2,Disease,Disorder,9B75.Y,0011957,H35.5,608051,C4749334,C562746,,,Retinal macular dystrophy type 2,"Adolescent, Adult",Autosomal dominant
319635,Amyloidosis cutis dyschromia,Disease,Disorder,,0017906,L99.0*,617920,C4554601,,,,Amyloidosis cutis dyschromia,Childhood,Autosomal recessive
319623,OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency,Etiological subtype,Subtype of disorder,,,,,,,,,,,
319612,OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency,Etiological subtype,Subtype of disorder,,,,,,,,,,,
319605,X-linked mendelian susceptibility to mycobacterial diseases,Disease,Disorder,4A00.2,0017905,D84.8,300645,C4304413,,,,X-linked mendelian susceptibility to mycobacterial diseases,"Adolescent, Childhood, Infancy",X-linked recessive
319600,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,Disease,Disorder,4A00.2,0013957,D84.8,614893,C4509854,,,,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,"Infancy, Neonatal",Autosomal dominant
319684,NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency,Disease,Disorder,,,,,,,,,,,
319681,NON RARE IN EUROPE: Lactase non-persistence in adulthood,Disease,Disorder,,,,,,,,,,,
319678,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,Disease,Disorder,5C53.22,0013840,E88.8,616733,C4706367,,,,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,Neonatal,Autosomal recessive
319675,"Microcephalic primordial dwarfism, Dauber type",Malformation syndrome,Disorder,LD24.D,0013922,Q87.1,614851,C4749303,,,,"Microcephalic primordial dwarfism, Dauber type","Antenatal, Neonatal",Autosomal recessive
319671,Alazami syndrome,Malformation syndrome,Disorder,LD24.D,0014031,Q87.1,615071,C3554439,,,,Alazami syndrome,"Antenatal, Neonatal",Autosomal recessive
319667,Primary lymphoma of the conjunctiva,Disease,Disorder,2B33.5,0017907,C85.7,,C4706485,,,,,,
319658,NON RARE IN EUROPE: Unexplained intellectual disability,Disease,Disorder,,,,,,,,,,,
319254,Kyasanur forest disease,Disease,Disorder,1D4B,0017881,A98.2,,C0022810,D007733,10023505,8257,Kyasanur forest disease,All ages,
319266,Omsk hemorrhagic fever,Disease,Disorder,1D4A,0017882,A98.1,,C0019103,D006481,10030310,8254,Omsk hemorrhagic fever,All ages,
319276,Clear cell renal carcinoma,Disease,Disorder,,0005005,C64,,C0279702,,10073251,9574,Clear cell renal carcinoma,"Adult, Elderly",Not applicable
319239,Brazilian hemorrhagic fever,Disease,Disorder,1D6Y,0017877,A96.8,,C0343633,,,,Brazilian hemorrhagic fever,All ages,
319244,Chapare hemorrhagic fever,Disease,Disorder,1D6Y,0017878,A96.8,,C4274434,C000723468,,,Chapare hemorrhagic fever,All ages,
319247,Hantavirus pulmonary syndrome,Disease,Disorder,1D62.1,0017879,J17.1*,,C0243025,D018804,10019143,69,,,
319251,Rift valley fever,Disease,Disorder,1D44,0017880,A92.4,,C0035613,D012295,10039143,,Rift valley fever,All ages,
319314,OBSOLETE: Renal cell carcinoma associated with neuroblastoma,Disease,Disorder,,,,,,,,,,,
319319,Renal medullary carcinoma,Disease,Disorder,,0006260,C64,,C4049328,,10064886,13175,Renal medullary carcinoma,Adult,
319322,Mucinous tubular and spindle cell renal carcinoma,Disease,Disorder,,0003011,C64,,C4707257,,,,Mucinous tubular and spindle cell renal carcinoma,"Adolescent, Adult, Elderly",
319325,Tubulocystic renal cell carcinoma,Disease,Disorder,,0017890,C64,,C4288091,,,,Tubulocystic renal cell carcinoma,"Adult, Elderly",
319287,Multilocular cystic renal neoplasm of low malignant potential,Histopathological subtype,Subtype of disorder,,0003010,C64,,C0346249,,,,,,
319298,Papillary renal cell carcinoma,Disease,Disorder,2C90.Y,0017884,C64,,C1306837,,10078493,9572,Papillary renal cell carcinoma,"Adult, Elderly",Not applicable
319303,Chromophobe renal cell carcinoma,Disease,Disorder,,0017885,C64,,C1266042,,10080544,6064,Chromophobe renal cell carcinoma,"Adult, Elderly",
319308,MiT family translocation renal cell carcinoma,Disease,Disorder,,0017886,C64,300854,C4518356,,,,MiT family translocation renal cell carcinoma,"Adolescent, Adult, Childhood, Elderly, Infancy",
319332,Autosomal recessive myogenic arthrogryposis multiplex congenita,Disease,Disorder,,0017892,Q74.3,618484,C4707155,,,,Autosomal recessive myogenic arthrogryposis multiplex congenita,Neonatal,Autosomal recessive
319328,Inherited renal cancer-predisposing syndrome,Category,Group of disorders,,,,,C5680964,,,,,,
319340,Carney complex-trismus-pseudocamptodactyly syndrome,Disease,Disorder,5A70.Y,0012137,Q68.8,608837,C4553889,,,,Carney complex-trismus-pseudocamptodactyly syndrome,Neonatal,Not applicable
319487,Familial papillary or follicular thyroid carcinoma,Disease,Disorder,,0017895,C73,616535,,,,8488,Familial papillary or follicular thyroid carcinoma,Adult,Not applicable
319480,Acute myeloid leukemia with CEBPA somatic mutations,Disease,Disorder,,0017894,C92.0,601626,C4707178,,,,Acute myeloid leukemia with CEBPA somatic mutations,,Not applicable
319504,Combined oxidative phosphorylation defect type 8,Disease,Disorder,5C53.23,0013570,E88.8,614096,C4518839,,,,Combined oxidative phosphorylation defect type 8,"Infancy, Neonatal",Autosomal recessive
319494,Familial nonmedullary thyroid carcinoma,Clinical group,Group of disorders,,0017896,,,C5191836,,,,,,
319465,Inherited acute myeloid leukemia,Disease,Disorder,,0017893,C92.0,601626,C4707228,,,,Inherited acute myeloid leukemia,,Autosomal dominant
319462,Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations,Disease,Disorder,,11584,D61.0,605724,C4707792,,,,Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations,,Autosomal recessive
319205,Bilateral massive adrenal hemorrhage,Etiological subtype,Subtype of disorder,,0017871,E27.4,,C5679892,,,,,,
319213,Lujo hemorrhagic fever,Disease,Disorder,1D6Y,0017872,A96.8,,C4274433,C000723471,10079325,,Lujo hemorrhagic fever,All ages,
319195,Chondroectodermal dysplasia with night blindness,Disease,Disorder,,0017869,Q77.6,,C4706300,,,,Chondroectodermal dysplasia with night blindness,"Infancy, Neonatal",
319199,Autosomal recessive spastic paraplegia type 53,Disease,Disorder,,0013962,G11.4,614898,C3539494,,,17445,Autosomal recessive spastic paraplegia type 53,Infancy,Autosomal recessive
319229,Bolivian hemorrhagic fever,Disease,Disorder,1D61.1,0017875,A96.1,,C0282192,,10005932,,Bolivian hemorrhagic fever,All ages,
319234,Venezuelan hemorrhagic fever,Disease,Disorder,1D61.3,0017876,A96.8,,C0042470,,,,Venezuelan hemorrhagic fever,All ages,
319218,Ebola hemorrhagic fever,Disease,Disorder,1D60.01,0005737,A98.4,,C0282687,D019142,10014071,2035,Ebola hemorrhagic fever,All ages,Not applicable
319223,Argentine hemorrhagic fever,Disease,Disorder,1D61.0,0017874,A96.0,,C0019097,,10003090,,Argentine hemorrhagic fever,All ages,
319160,Congenital myopathy with internal nuclei and atypical cores,Disease,Disorder,,0013890,G71.2,614807,C4707232,,,,Congenital myopathy with internal nuclei and atypical cores,Neonatal,Autosomal dominant
319171,Distal 17p13.1 microdeletion syndrome,Malformation syndrome,Disorder,,0017867,Q93.5,,C4749349,,,10996,Distal 17p13.1 microdeletion syndrome,"Infancy, Neonatal",Not applicable
319189,Familial cortical myoclonus,Disease,Disorder,,0013981,G25.3,614937,C3539916,,,,Familial cortical myoclonus,Adult,Autosomal dominant
319192,Diencephalic-mesencephalic junction dysplasia,Morphological anomaly,Disorder,,0017868,Q04.8,618646,C4707858,,,,Diencephalic-mesencephalic junction dysplasia,"Antenatal, Neonatal",Autosomal recessive
319182,Wiedemann-Steiner syndrome,Malformation syndrome,Disorder,,0011518,Q87.1,605130,C1854630,,,5565,Wiedemann-Steiner syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
317419,T-B- severe combined immunodeficiency,Clinical group,Group of disorders,4A01.10,0017855,D81.1,,C5679893,,,,,,
317416,T-B+ severe combined immunodeficiency,Clinical group,Group of disorders,4A01.10,0044200,D81.2,,C5679894,,,,,,
317428,Combined immunodeficiency due to ORAI1 deficiency,Clinical subtype,Subtype of disorder,4A01.1Y,0013007,D81.8,612782,C2748568,,,10524,Combined immunodeficiency due to ORAI1 deficiency,"Infancy, Neonatal",Autosomal recessive
317425,Severe combined immunodeficiency due to DNA-PKcs deficiency,Disease,Disorder,4A01.10,0014423,D81.1,615966,C4274221,,,,Severe combined immunodeficiency due to DNA-PKcs deficiency,"Infancy, Neonatal",Autosomal recessive
317430,Combined immunodeficiency due to STIM1 deficiency,Clinical subtype,Subtype of disorder,4A01.1Y,0013008,D81.8,612783,C2748557,,,10523,Combined immunodeficiency due to STIM1 deficiency,"Infancy, Neonatal",Autosomal recessive
317473,Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency,Disease,Disorder,4A01.1Y,0014810,D81.8,616873,C5190826,,,,Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
317476,XMEN,Disease,Disorder,4A01.1Y,0010455,D81.8,300853,C3275445,,,10907,XMEN,"Adolescent, Adult, Childhood",X-linked recessive
315350,Autoimmune disease with skin involvement,Category,Group of disorders,,,,,C5680965,,,,,,
315311,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",Clinical subtype,Subtype of disorder,5A71.01,0017840,E25.0,201910,C5679895,,,,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form","Infancy, Neonatal",Autosomal recessive
315306,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",Clinical subtype,Subtype of disorder,5A71.01,0017839,E25.0,201910,C5679896,,,,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form","Infancy, Neonatal",Autosomal recessive
314993,Cataract-congenital heart disease-neural tube defect syndrome,Malformation syndrome,Disorder,,0011995,Q87.8,608227,C4512052,,,,Cataract-congenital heart disease-neural tube defect syndrome,"Infancy, Neonatal",
314978,X-linked non progressive cerebellar ataxia,Disease,Disorder,,0010404,G11.0,302500,C4707849,,,,X-linked non progressive cerebellar ataxia,"Infancy, Neonatal",X-linked recessive
314970,Lymphocytic hypereosinophilic syndrome,Clinical subtype,Subtype of disorder,BC43.20,0017835,D47.5,,C5396402,,,,Lymphocytic hypereosinophilic syndrome,All ages,
314962,Secondary hypereosinophilic syndrome,Disease,Disorder,,0017834,D47.5,,C5679897,,,,Secondary hypereosinophilic syndrome,All ages,
314950,Primary hypereosinophilic syndrome,Disease,Disorder,,0017833,D47.5,,C5679898,,,,Primary hypereosinophilic syndrome,All ages,
314946,OBSOLETE: Mycobacterium xenopi infection,Disease,Disorder,,,,,,,,,,,
314928,NON RARE IN EUROPE: Normal pressure hydrocephalus,Disease,Disorder,,,G91.2,,,,,,,,
314918,Mild Canavan disease,Clinical subtype,Subtype of disorder,5C50.E1,0017831,E75.2,271900,C0751667,,,,Mild Canavan disease,Childhood,Autosomal recessive
314911,Severe Canavan disease,Clinical subtype,Subtype of disorder,5C50.E1,0017830,E75.2,271900,C5575558,,,,Severe Canavan disease,"Infancy, Neonatal",Autosomal recessive
316244,Partial deletion of the short arm of chromosome 12 syndrome,Category,Group of disorders,,0022174,,,C2931805,C538302,,,,,
316235,Autosomal dominant spastic ataxia,Category,Group of disorders,,0017846,,,C5679899,,,,Autosomal dominant spastic ataxia,,Autosomal dominant
316240,Autosomal recessive spastic ataxia,Category,Group of disorders,,0017847,,,C5679900,,,,Autosomal recessive spastic ataxia,,Autosomal recessive
316226,Spastic ataxia,Clinical group,Group of disorders,,0017845,,,C1849156,C564815,,,,,
314701,Primary systemic amyloidosis,Clinical subtype,Subtype of disorder,,0017816,E85.3,254500,C0281479,,,,Primary systemic amyloidosis,,Not applicable
314697,Acquired porencephaly,Etiological subtype,Subtype of disorder,8D68,0017815,G93.0,,C0151860,,,,,,
314709,Primary localized amyloidosis,Clinical subtype,Subtype of disorder,5D00.0,0017817,E85.4,,C5679901,,,,Primary localized amyloidosis,,Not applicable
314679,Cerebrofacioarticular syndrome,Malformation syndrome,Disorder,,0017813,Q87.8,615546,C1832390,C536530,,5456,Cerebrofacioarticular syndrome,"Infancy, Neonatal",Autosomal recessive
314667,TMEM165-CDG,Disease,Disorder,,0013870,E77.8,614727,C3553571,,,12413,TMEM165-CDG,"Infancy, Neonatal",Autosomal recessive
314689,Combined immunodeficiency due to STK4 deficiency,Disease,Disorder,,0013934,D81.8,614868,C4749922,,,,Combined immunodeficiency due to STK4 deficiency,Childhood,Autosomal recessive
314684,Primary bone lymphoma,Disease,Disorder,,0017814,C85.7,,C1332582,,,,Primary bone lymphoma,All ages,
314652,Variant ABeta2M amyloidosis,Disease,Disorder,5D00.3,0017810,E85.1,105200,C4302669,,,,Variant ABeta2M amyloidosis,Adult,Autosomal dominant
314647,Non-progressive cerebellar ataxia with intellectual disability,Disease,Disorder,,0013886,G11.0,614756,C4509917,,,,Non-progressive cerebellar ataxia with intellectual disability,"Infancy, Neonatal",Autosomal dominant
314662,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,Disease,Disorder,,0017812,Q87.3,,C5192432,,,,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,"Antenatal, Neonatal",Not applicable
314655,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,Etiological subtype,Subtype of disorder,,0017811,Q93.5,616158,C4708510,,,,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,"Infancy, Neonatal",Unknown
314629,CLN11 disease,Disease,Disorder,5C56.1,,E75.4,614706,C3539123,,,,CLN11 disease,"Adolescent, Infancy",
314621,Duplication of the pituitary gland,Morphological anomaly,Disorder,,0017808,Q89.2,,C4755258,,,,Duplication of the pituitary gland,"Infancy, Neonatal",Not applicable
314637,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,Disease,Disorder,5C53.2Y,0013865,E88.8,614702,C4749921,,,,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,"Infancy, Neonatal",Unknown
314632,CLN12 disease,Disease,Disorder,5C56.1,0017809,E75.4,606693,C5230619,,,,CLN12 disease,Childhood,Autosomal recessive
314802,Short stature due to partial GHR deficiency,Disease,Disorder,,0011420,E34.3,604271,C5190814,,,,Short stature due to partial GHR deficiency,Childhood,Unknown
314811,Short stature due to GHSR deficiency,Disease,Disorder,5A61.0,0014403,E34.3,615925,C4707848,,,,Short stature due to GHSR deficiency,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
314822,Primary renal tubular acidosis,Clinical group,Group of disorders,,,,,C5680966,,,7552,,,
314889,Autosomal dominant proximal renal tubular acidosis,Clinical subtype,Subtype of disorder,,0017829,N25.8,,C5679902,,,,Autosomal dominant proximal renal tubular acidosis,Childhood,Autosomal dominant
314777,Familial isolated pituitary adenoma,Disease,Disorder,2F37.Y,0017824,D35.2,617540,C2676191,C566321,,10959,Familial isolated pituitary adenoma,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal dominant
314786,Silent pituitary adenoma,Histopathological subtype,Subtype of disorder,,0017825,D35.2,,,,,,Silent pituitary adenoma,,Not applicable
314790,Null pituitary adenoma,Histopathological subtype,Subtype of disorder,,0017826,D35.2,,C5680967,,,,Null pituitary adenoma,,Not applicable
314795,SHOX-related short stature,Disease,Disorder,LD24.A,0010367,Q87.1,300582,C4706613,,,,SHOX-related short stature,"Infancy, Neonatal",Autosomal dominant
314753,Functioning pituitary adenoma,Clinical group,Group of disorders,,0003429,,,C0854486,,10039893,,,,
314759,Mixed functioning pituitary adenoma,Category,Group of disorders,,0017822,,,C0346305,,,,,,
314769,Somatomammotropinoma,Disease,Disorder,2F37.Y,0017823,D35.2,,C4755297,,,,Somatomammotropinoma,"Adolescent, Adult",
314718,Lethal arteriopathy syndrome due to fibulin-4 deficiency,Disease,Disorder,LA8B.2Y,0017818,Q28.8,614437,C5190604,,,,Lethal arteriopathy syndrome due to fibulin-4 deficiency,"Infancy, Neonatal",Autosomal recessive
314721,Atypical dentin dysplasia due to SMOC2 deficiency,Clinical subtype,Subtype of disorder,,0017819,K00.5,125400,C5190802,,,,Atypical dentin dysplasia due to SMOC2 deficiency,"Infancy, Neonatal",Autosomal recessive
314749,Rare disease with adrenal Cushing syndrome as a major feature,Category,Group of disorders,,,,,C5816688,,,,,,
370127,Medich giant platelet syndrome,Disease,Disorder,3B62.Y,0018268,D69.1,,C4305375,,,,Medich giant platelet syndrome,"Infancy, Neonatal",
370114,Combined cervical dystonia,Disease,Disorder,,,,,,,,,,,
370109,Ataxia-telangiectasia variant,Disease,Disorder,,0018266,G11.3,208900,C1876175,C566865,,,Ataxia-telangiectasia variant,,Autosomal recessive
370106,Rare disorder with dystonia and other neurologic or systemic manifestation,Category,Group of disorders,,,,,C5680969,,,,,,
370103,"Primary dystonia, DYT17 type",Disease,Disorder,8A02.0Y,0012895,G24.1,612406,C5190526,,,,"Primary dystonia, DYT17 type","Adolescent, Adult",Autosomal recessive
370097,Oculocutaneous albinism type 6,Disease,Disorder,EC23.20,0018264,E70.3,113750,C3805375,,,,Oculocutaneous albinism type 6,"Infancy, Neonatal",Autosomal recessive
370091,Oculocutaneous albinism type 5,Disease,Disorder,EC23.20,0014127,E70.3,615312,C3888401,,,,Oculocutaneous albinism type 5,"Infancy, Neonatal",Autosomal recessive
370396,Small cell carcinoma of the ovary,Disease,Disorder,,0003795,C56,,C2212006,,,10411,Small cell carcinoma of the ovary,"Adolescent, Adult, Childhood, Infancy",Not applicable
370348,Peripheral primitive neuroectodermal tumor,Disease,Disorder,,0018271,C71.9,612219,C0684337,D018241,,,Peripheral primitive neuroectodermal tumor,"Adolescent, Adult, Childhood",Not applicable
370334,Extraskeletal Ewing sarcoma,Disease,Disorder,2B52.Y,0018270,C49.9,612219,C0279980,,10015759,,Extraskeletal Ewing sarcoma,"Adolescent, Adult, Childhood",Not applicable
370131,White platelet syndrome,Disease,Disorder,3B62.0Y,0018269,D69.1,,C2931293,C536702,,9282,White platelet syndrome,No data available,Autosomal dominant
370046,Didymosis aplasticosebacea,Disease,Disorder,,0018259,Q84.8,,C4751600,,,,Didymosis aplasticosebacea,"Infancy, Neonatal",Not applicable
370034,Familial syringomyelia,Clinical subtype,Subtype of disorder,8D66,0018257,Q06.4,,C5680970,,,,Familial syringomyelia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
370039,Angora hair nevus,Disease,Disorder,,0018258,Q82.5,,C4751601,,,,Angora hair nevus,"Infancy, Neonatal","Not applicable, Unknown"
370022,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,Disease,Disorder,,0014419,G11.1,615960,C4014821,,,,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,"Infancy, Neonatal",Autosomal recessive
370026,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,Disease,Disorder,,0018256,C92.0,,C4511003,,,,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,All ages,Not applicable
370015,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type",Disease,Disorder,LD24.3,0018254,Q77.8,618728,C5231478,,,,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type","Infancy, Neonatal",Autosomal dominant
370019,"Spondylometaphyseal dysplasia, Czarny-Ratajczak type",Disease,Disorder,,,,,,,,,,,
370088,Acute infantile liver failure-multisystemic involvement syndrome,Disease,Disorder,DB91.1,0024568,K72.0,615438,C4751598,,,13114,Acute infantile liver failure-multisystemic involvement syndrome,"Infancy, Neonatal",Autosomal recessive
370076,Fetal carbamazepine syndrome,Malformation syndrome,Disorder,LD2F.0Y,0018263,Q86.8,,C0432370,,,,Fetal carbamazepine syndrome,"Antenatal, Infancy, Neonatal",Not applicable
370079,Proximal 16p11.2 microduplication syndrome,Malformation syndrome,Disorder,,0013847,Q92.3,614671,C4707332,,,12388,Proximal 16p11.2 microduplication syndrome,"Infancy, Neonatal",
370068,Fetal anticonvulsant syndrome,Clinical group,Group of disorders,,,,,C1739111,,10066485,,,,
370052,SCALP syndrome,Disease,Disorder,,0018260,Q84.8,,C4751599,,,,SCALP syndrome,Neonatal,Not applicable
370059,NEVADA syndrome,Disease,Disorder,,0018261,Q84.8,,C4751431,,,,,,
371054,OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature,Category,Group of disorders,,,,,,,,,,,
371047,Congenital disorder of glycosylation with neurological involvement,Category,Group of disorders,,,,,C5679903,,,,,,
371071,Congenital disorder of glycosylation with epilepsy as a major feature,Category,Group of disorders,,,,,C5679904,,,,,,
371064,OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature,Category,Group of disorders,,,,,,,,,,,
371007,Congenital muscular dystrophy with hyperlaxity,Disease,Disorder,,0018281,G71.2,,C4706389,,,,Congenital muscular dystrophy with hyperlaxity,Neonatal,
370997,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,Disease,Disorder,,0018280,G71.0,616538,C5191414,,,,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,Infancy,Autosomal recessive
371040,Primary qualitative or quantitative defects of alpha-dystroglycan,Category,Group of disorders,,,,,C5679905,,,,,,
371024,Qualitative or quantitative defects of alpha-dystroglycan,Category,Group of disorders,,0018282,,,C2936406,,,,,,
371183,Congenital disorder of glycosylation with cardiac malformation as a major feature,Category,Group of disorders,,,,,C5679906,,,,,,
371176,Congenital disorder of glycosylation with dilated cardiomyopathy,Category,Group of disorders,,,,,C5679907,,,,,,
371195,Congenital disorder of glycosylation-related bone disorder,Category,Group of disorders,,,,,C5679908,,,,,,
371188,Congenital disorder of glycosylation with intestinal involvement,Category,Group of disorders,,,,,C5679909,,,,,,
371157,Congenital disorder of glycosylation with hepatic involvement,Category,Group of disorders,,,,,C5679910,,,,,,
370921,STT3A-CDG,Disease,Disorder,5C54.0,0014270,E77.8,615596,C3810062,,,,STT3A-CDG,"Infancy, Neonatal",Autosomal recessive
370924,STT3B-CDG,Disease,Disorder,5C54.0,0014271,E77.8,615597,C2931007,C535751,,,STT3B-CDG,"Infancy, Neonatal",Autosomal recessive
370927,SSR4-CDG,Disease,Disorder,5C54.0,0010490,E77.8,300934,C4012395,,,12405,SSR4-CDG,"Infancy, Neonatal",X-linked recessive
370930,XYLT1-CDG,Disease,Disorder,5C54.1,0018273,E77.8,,C4750849,,,,XYLT1-CDG,"Infancy, Neonatal",Autosomal recessive
370953,Congenital muscular dystrophy due to dystroglycanopathy,Category,Group of disorders,,,,,C5679911,,,,,,
370959,Congenital muscular dystrophy with cerebellar involvement,Disease,Disorder,8C70.6,0018277,G71.2,615351,C5190848,,,,Congenital muscular dystrophy with cerebellar involvement,"Infancy, Neonatal",Autosomal recessive
370968,Congenital muscular dystrophy with intellectual disability,Disease,Disorder,,0018278,G71.2,615351,C5190846,,,,Congenital muscular dystrophy with intellectual disability,"Infancy, Neonatal",Autosomal recessive
370980,Congenital muscular dystrophy without intellectual disability,Disease,Disorder,,0018279,G71.2,613152,C5190847,,,,Congenital muscular dystrophy without intellectual disability,"Infancy, Neonatal",Autosomal recessive
370933,GM3 synthase deficiency,Disease,Disorder,5C54.Y,0018274,E77.8,609056,,,,12059,GM3 synthase deficiency,,Autosomal recessive
370938,Salt-and-pepper syndrome,Disease,Disorder,,,,,,,,,,,
370943,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,Disease,Disorder,5C54.0,0014248,Q87.8,615553,C4518080,,,,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,"Infancy, Neonatal",Autosomal recessive
365563,Primary short bowel syndrome,Clinical group,Group of disorders,,,,,C5680971,,,,,,
369929,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,Disease,Disorder,,0014200,E26.0,615474,C5230308,,,,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,"Infancy, Neonatal",Not applicable
369920,Pontocerebellar hypoplasia type 9,Malformation syndrome,Disorder,,0014351,Q04.3,615809,C4014354,,,,Pontocerebellar hypoplasia type 9,"Infancy, Neonatal",Autosomal recessive
369942,CADDS,Disease,Disorder,,0018247,Q87.8,300475,C3806634,C564508,,12472,CADDS,"Infancy, Neonatal",X-linked recessive
369939,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,Malformation syndrome,Disorder,,0010334,Q87.8,300475,C4749456,,,,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,"Infancy, Neonatal",Autosomal recessive
369955,"Methylmalonic acidemia with homocystinuria, type cblJ",Clinical subtype,Subtype of disorder,5C50.E0,0013925,E71.1,614857,C3553915,,,,"Methylmalonic acidemia with homocystinuria, type cblJ","Infancy, Neonatal",Autosomal recessive
369950,Intellectual disability-seizures-macrocephaly-obesity syndrome,Disease,Disorder,,0018248,Q87.8,,C4749455,,,,Intellectual disability-seizures-macrocephaly-obesity syndrome,"Infancy, Neonatal","Not applicable, Unknown"
369970,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,Disease,Disorder,9B61,0014195,Q15.8,615458,C4751602,,,,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,Childhood,Autosomal recessive
369962,"Methylmalonic acidemia with homocystinuria, type cblX",Clinical subtype,Subtype of disorder,5C50.E0,0010657,E71.1,309541,C0796208,,,,"Methylmalonic acidemia with homocystinuria, type cblX","Infancy, Neonatal",X-linked recessive
369979,Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,Malformation syndrome,Disorder,,0018249,Q87.2,,C5190599,,,,Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,"Infancy, Neonatal",
369992,Severe dermatitis-multiple allergies-metabolic wasting syndrome,Disease,Disorder,LD27.2,0014218,Q80.8,615508,C3809719,,,,Severe dermatitis-multiple allergies-metabolic wasting syndrome,"Infancy, Neonatal",Autosomal recessive
370002,Focal palmoplantar keratoderma with joint keratoses,Disease,Disorder,,0018252,Q82.8,148700,C4755302,,,,Focal palmoplantar keratoderma with joint keratoses,"Infancy, Neonatal",Autosomal dominant
369999,Diffuse palmoplantar keratoderma with painful fissures,Disease,Disorder,,0018250,Q82.8,148700,C4755309,,,,Diffuse palmoplantar keratoderma with painful fissures,"Infancy, Neonatal",Autosomal dominant
370010,Intellectual disability-facial dysmorphism-hand anomalies syndrome,Malformation syndrome,Disorder,,0018253,Q87.0,,C4750848,,,,Intellectual disability-facial dysmorphism-hand anomalies syndrome,"Infancy, Neonatal",Autosomal recessive
370006,Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome,Malformation syndrome,Disorder,,,,615926,,,,,,,
369837,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,Malformation syndrome,Disorder,,0014165,Q87.8,615398,C4749459,,,,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,"Infancy, Neonatal",Autosomal recessive
369840,TRAPPC11-related limb-girdle muscular dystrophy R18,Disease,Disorder,,0014144,G71.0,615356,C4517996,,,,TRAPPC11-related limb-girdle muscular dystrophy R18,"Childhood, Infancy",Autosomal recessive
369847,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,Disease,Disorder,,0018243,G25.5,,C5192595,,,,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,Childhood,Autosomal recessive
369852,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,Disease,Disorder,,0014118,D70,615285,C4755251,,,,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,"Infancy, Neonatal",Autosomal recessive
369861,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,Disease,Disorder,3A72.01,0014487,D64.0,616084,C4707403,,,,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,"Infancy, Neonatal",Autosomal recessive
369867,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,Disease,Disorder,,0014154,G60.0,615376,C4750846,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,"Adult, All ages, Childhood",Autosomal recessive
369873,Obesity due to SIM1 deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0018244,E66.8,,C5191050,,,,Obesity due to SIM1 deficiency,"Infancy, Neonatal",Autosomal recessive
369881,2p21 microdeletion syndrome without cystinuria,Malformation syndrome,Disorder,,0018245,Q93.5,,C4749458,,,,2p21 microdeletion syndrome without cystinuria,"Infancy, Neonatal",Autosomal recessive
369886,Homozygous 2p21 microdeletion syndrome,Clinical group,Group of disorders,,,,,C5679912,,,,Homozygous 2p21 microdeletion syndrome,,Not applicable
369891,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,Malformation syndrome,Disorder,LD90.Y,14773,Q87.0,616789,C5192431,,,,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,"Infancy, Neonatal",Autosomal dominant
369894,OBSOLETE: Early infantile epileptic encephalopathy without suppression burst,Disease,Disorder,,,,,,,,,,,
369897,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies",Disease,Disorder,,0014198,E88.8,615471,C5679913,,,13298,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies","Infancy, Neonatal",Autosomal recessive
369902,OBSOLETE: DDX59-related orofaciodigital syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
369913,Combined oxidative phosphorylation defect type 17,Disease,Disorder,5C53.23,0014190,E88.8,615440,C3809526,,,,Combined oxidative phosphorylation defect type 17,"Infancy, Neonatal",Autosomal recessive
364063,Infantile epileptic-dyskinetic encephalopathy,Disease,Disorder,,0018226,G40.4,308350,C4552072,C567924,,,Infantile epileptic-dyskinetic encephalopathy,"Infancy, Neonatal",X-linked recessive
364055,Severe early-childhood-onset retinal dystrophy,Disease,Disorder,9B70,0009549,H35.5,,C1858080,C565741,,,Severe early-childhood-onset retinal dystrophy,"Childhood, Infancy",Autosomal recessive
364039,Hydroa vacciniforme-like lymphoma,Disease,Disorder,2B0Y,0018224,C84.5,,C1708397,,,,Hydroa vacciniforme-like lymphoma,"Adult, Childhood",Not applicable
364043,ALK-positive large B-cell lymphoma,Disease,Disorder,2A81.8,0018225,C83.3,,C1333294,,,,ALK-positive large B-cell lymphoma,,"Multigenic/multifactorial, Not applicable"
364028,X-linked intellectual disability due to GRIA3 mutations,Disease,Disorder,LD90,0018222,F72,300699,C5191041,,,,X-linked intellectual disability due to GRIA3 mutations,Infancy,X-linked recessive
364033,Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,Disease,Disorder,,0018223,D47.9,,C2699747,,,,Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,Childhood,Not applicable
772,Infantile Refsum disease,Disease,Disorder,5C57.1,0019174,G60.1,617370,C0282527,D052919,,4648,Infantile Refsum disease,All ages,Autosomal recessive
1194,TMEM70-related mitochondrial encephalo-cardio-myopathy,Disease,Disorder,5C53.2Y,0013546,G71.3,614052,C4273660,,,,TMEM70-related mitochondrial encephalo-cardio-myopathy,"Infancy, Neonatal",Autosomal recessive
363999,Non-immune hydrops fetalis,Clinical subtype,Subtype of disorder,KC41.1,0009369,P83.2,619369,C0455988,,,,Non-immune hydrops fetalis,"Antenatal, Neonatal",Not applicable
1048,Isolated anencephaly/exencephaly,Morphological anomaly,Disorder,LA00.0,,Q04.8,206500,C5680972,,,5808,Isolated anencephaly/exencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
364013,Immune hydrops fetalis,Clinical subtype,Subtype of disorder,KA85.0,0018221,P56.0,,C0455990,,,,Immune hydrops fetalis,"Antenatal, Neonatal",Not applicable
363989,Familial benign flecked retina,Disease,Disorder,9B70,0009235,H35.5,228980,C1856718,C565564,,,Familial benign flecked retina,"Adult, Childhood",Autosomal recessive
823,Spina bifida and other spinal dysraphisms,Category,Group of disorders,LA02,0019351,,601634,C5680973,D016135,10041524,7673,Spina bifida and other spinal dysraphisms,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
363992,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,Disease,Disorder,,0013176,Q87.8,615023,C5190986,,,,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,"Infancy, Neonatal",Autosomal recessive
363976,Giant cell tumor of bone,Disease,Disorder,2F9B,0005674,D48.0,,C0206638,D018212,10005969,13046,Giant cell tumor of bone,Adult,Not applicable
363981,Charcot-Marie-Tooth disease type 4B3,Disease,Disorder,,0014117,G60.0,615284,C3695063,,,,Charcot-Marie-Tooth disease type 4B3,Childhood,Autosomal recessive
363969,Autosomal recessive cerebral atrophy,Disease,Disorder,,0018218,G31.8,,C4755252,,,,Autosomal recessive cerebral atrophy,"Infancy, Neonatal",Autosomal recessive
363972,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,Malformation syndrome,Disorder,2A42.Y,0013308,C93.3,613563,C4016301,,,,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,"Infancy, Neonatal",Autosomal dominant
363965,Koolen-De Vries syndrome due to a point mutation,Etiological subtype,Subtype of disorder,LD24.GY,0018217,Q87.8,610443,C5680974,,,,Koolen-De Vries syndrome due to a point mutation,"Infancy, Neonatal",Autosomal dominant
363958,17q21.31 microdeletion syndrome,Etiological subtype,Subtype of disorder,LD44.H0,0018216,Q93.5,610443,C1864871,C566476,,,17q21.31 microdeletion syndrome,"Infancy, Neonatal",Autosomal dominant
363746,Balint syndrome,Clinical syndrome,Disorder,9C82.4,0018211,H51.8,,C4707368,,10057375,,Balint syndrome,All ages,Not applicable
363741,Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,Disease,Disorder,,0011145,Q87.8,601794,C4755253,,,,Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,"Infancy, Neonatal",Autosomal dominant
363727,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,Disease,Disorder,3A73,0010444,D64.4,300835,C5190600,,,,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,All ages,X-linked recessive
363722,Alexander disease type II,Clinical subtype,Subtype of disorder,,0018210,G93.8,203450,C5679914,,,,Alexander disease type II,"Adolescent, Adult, Childhood",Autosomal dominant
363717,Alexander disease type I,Clinical subtype,Subtype of disorder,8A44.2,0018209,G93.8,203450,C5769581,,,,Alexander disease type I,"Infancy, Neonatal",Not applicable
363710,Spinocerebellar ataxia type 37,Disease,Disorder,8A03.16,0014410,G11.8,615945,C3889636,,,12368,Spinocerebellar ataxia type 37,Adult,Autosomal dominant
363705,Craniofaciofrontodigital syndrome,Disease,Disorder,,0007259,Q87.0,114620,C2676032,C567298,,,Craniofaciofrontodigital syndrome,Neonatal,Unknown
363700,Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,Etiological subtype,Subtype of disorder,,0018208,Q85.0,162200,C5779636,,,,Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,"Infancy, Neonatal",Autosomal dominant
363694,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,Disease,Disorder,,0013458,E88.8,613845,C3151209,,,,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,"Infancy, Neonatal",Autosomal recessive
363686,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,Disease,Disorder,,0014034,Q87.8,615074,C4750954,,,12815,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,"Infancy, Neonatal",Autosomal dominant
363680,2p13.2 microdeletion syndrome,Malformation syndrome,Disorder,,0018207,Q93.5,,C4749460,,,,2p13.2 microdeletion syndrome,"Infancy, Neonatal",Autosomal dominant
363677,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,Disease,Disorder,,0018206,G71.2,605637,C5192594,,,,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,Childhood,Autosomal recessive
364803,Rare bone disease related to a common gene or pathway defect,Category,Group of disorders,,,,,C5680975,,,,,,
364817,OBSOLETE: Aggrecan-related bone disorder,Category,Group of disorders,,,,,,,,,,,
364820,TRPV4-related bone disorder,Category,Group of disorders,,0018240,,,C5680977,,,,,,
364574,Acrofacial dysostosis,Clinical group,Group of disorders,LD25.2,0018237,,,C1332140,,,,,,
364571,Dysostosis with limb and face anomalies as a major feature,Category,Group of disorders,,,,,C5680978,,,,,,
364577,Intellectual disability-brachydactyly-Pierre Robin syndrome,Malformation syndrome,Disorder,,0012095,Q87.0,608670,C4706564,,,,Intellectual disability-brachydactyly-Pierre Robin syndrome,Neonatal,
364559,Dysostosis,Category,Group of disorders,,0018234,,,C0013393,D004413,,,,,
364541,Otopalatodigital syndrome spectrum disorder,Clinical group,Group of disorders,,0018233,,,C2748918,C567577,10084408,,,,
364568,Dysostosis with limb anomaly as a major feature,Category,Group of disorders,,,,,C5680979,,,,,,
364526,Primary bone dysplasia,Category,Group of disorders,,,,,C5679916,,,,,,
364536,Primary bone dysplasia with micromelia,Category,Group of disorders,,,,,C5679917,,,,,,
364531,"Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments",Category,Group of disorders,,,,,C5679918,,,,,,
364198,Bipartite talus,Morphological anomaly,Disorder,,0018228,Q66.8,,C4706298,,,,Bipartite talus,"Adolescent, Adult",Not applicable
363417,Temtamy preaxial brachydactyly syndrome,Malformation syndrome,Disorder,,0011533,Q87.2,605282,C1854466,C536958,,9679,Temtamy preaxial brachydactyly syndrome,"Infancy, Neonatal",Autosomal recessive
363409,Fetal akinesia-cerebral and retinal hemorrhage syndrome,Disease,Disorder,,0014149,G71.2,615368,C4706410,,,,Fetal akinesia-cerebral and retinal hemorrhage syndrome,"Infancy, Neonatal",Autosomal recessive
363412,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,Disease,Disorder,,0014115,E75.2,615281,C4755254,,,,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,"Adolescent, Infancy, Neonatal",Autosomal recessive
363429,Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,Disease,Disorder,,0018189,G11.1,616204,C4706388,,,,Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,"Infancy, Neonatal",Autosomal recessive
363432,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,Clinical subtype,Subtype of disorder,,0014530,G11.1,616204,C4015505,,,,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,"Infancy, Neonatal",Autosomal recessive
363424,Multiple mitochondrial dysfunctions syndrome type 3,Disease,Disorder,,0014132,E88.8,615330,C3809165,,,,Multiple mitochondrial dysfunctions syndrome type 3,"Infancy, Neonatal",Autosomal recessive
363314,Genetic intestinal polyposis,Category,Group of disorders,,,,,C2713443,,,,,,
363300,Genetic intractable diarrhea of infancy,Category,Group of disorders,,,,,C5680980,,,,,,
363306,Genetic intestinal disease due to fat malabsorption,Category,Group of disorders,,,,,C5680981,,,,,,
363396,High myopia-sensorineural deafness syndrome,Disease,Disorder,LD2H.Y,0009082,H90.5,221200,C4304026,,,12844,High myopia-sensorineural deafness syndrome,"Infancy, Neonatal",Autosomal recessive
363400,Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome,Disease,Disorder,,0014402,G31.8,615924,C4750956,,,,Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome,"Infancy, Neonatal",Autosomal recessive
363266,OBSOLETE: Rare hereditary iron overload disease,Category,Group of disorders,,,,,,,,,,,
363250,Ciliopathy,Category,Group of disorders,,0005308,,,C4277690,D000072661,,,,,
363294,Genetic syndromic Pierre Robin syndrome,Category,Group of disorders,,,,,C5680982,,,,,,
363245,Genetic progeroid syndrome,Category,Group of disorders,,,,,C5680983,,,,,,
363203,Ring chromosome syndrome,Category,Group of disorders,,,,,C0035639,D012303,10081894,,,,
363189,Congenital anomaly of the great veins,Category,Group of disorders,,,,,C0158632,,10061080,,,,
363618,LMNA-related cardiocutaneous progeria syndrome,Disease,Disorder,,0018203,E34.8,,C4750858,,,,LMNA-related cardiocutaneous progeria syndrome,Childhood,Autosomal dominant
363623,GMPPB-related limb-girdle muscular dystrophy R19,Disease,Disorder,,0014142,G71.0,615352,C4518000,,,,GMPPB-related limb-girdle muscular dystrophy R19,"Childhood, Infancy, Neonatal",Autosomal recessive
363629,OBSOLETE: GMPPB-related congenital muscular dystrophy,Disease,Disorder,,,,,,,,,,,
363649,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,Disease,Disorder,,14157,E34.8,615381,C3715192,,,10989,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,Childhood,Autosomal dominant
363654,X-linked parkinsonism-spasticity syndrome,Disease,Disorder,,0010482,G20,300911,C3806722,,,,X-linked parkinsonism-spasticity syndrome,"Adolescent, Adult",X-linked recessive
363659,20q11.2 microduplication syndrome,Malformation syndrome,Disorder,,0018204,Q92.3,,C4706257,,,,20q11.2 microduplication syndrome,"Infancy, Neonatal",
363665,Acroosteolysis-keloid-like lesions-premature aging syndrome,Disease,Disorder,,0011150,E34.8,601812,C1866182,,,4276,Acroosteolysis-keloid-like lesions-premature aging syndrome,"Infancy, Neonatal",Autosomal dominant
363540,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,Disease,Disorder,,0014292,E75.2,615651,C4554120,,,,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,All ages,Autosomal recessive
363543,Autosomal recessive limb-girdle muscular dystrophy type 2R,Disease,Disorder,,,,,,,,,,,
363549,Acute encephalopathy with biphasic seizures and late reduced diffusion,Disease,Disorder,,0018198,G40.4,,C4707658,,,,Acute encephalopathy with biphasic seizures and late reduced diffusion,"Infancy, Neonatal",
363558,New-onset refractory status epilepticus,Disease,Disorder,,0018199,G41.8,,C4749462,,10087465,12244,New-onset refractory status epilepticus,Adult,
363567,Acute encephalopathy with inflammation-mediated status epilepticus,Clinical group,Group of disorders,,,,,C5680984,,,,Acute encephalopathy with inflammation-mediated status epilepticus,All ages,
363579,Extragonadal germ cell tumor,Category,Group of disorders,,0018201,,,C0262963,,,9325,,,
363582,Gonadal germ cell tumor,Category,Group of disorders,,0018202,,,C3899657,,,,,,
363611,CTCF-related neurodevelopmental disorder,Disease,Disorder,,0014213,Q87.8,615502,C4750955,,,,CTCF-related neurodevelopmental disorder,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
363504,Germ cell tumor of testis,Category,Group of disorders,,0010108,,273300,C1336708,C563236,10075811,,,,
363494,Non-seminomatous germ cell tumor of testis,Disease,Disorder,,0006447,C62.1,273300,C2057625,,,,Non-seminomatous germ cell tumor of testis,Adult,Not applicable
363523,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,Disease,Disorder,,0014131,Q82.8,615328,C3809160,,,,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
363534,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form",Disease,Disorder,5C53.20,0018197,E88.8,271245,C5190602,,,,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","Infancy, Neonatal",Autosomal recessive
363528,Intellectual disability-strabismus syndrome,Disease,Disorder,,0014119,H50.8,615286,C4750838,,,,Intellectual disability-strabismus syndrome,"Infancy, Neonatal",Autosomal recessive
363444,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0013362,Q87.0,613680,C3150939,,,,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
363454,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,Etiological subtype,Subtype of disorder,,0014121,G12.1,615290,C4747715,,,13222,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
363447,Autosomal dominant childhood-onset proximal spinal muscular atrophy,Disease,Disorder,8B61.Y,0018190,G12.1,615290,C1834690,,,,Autosomal dominant childhood-onset proximal spinal muscular atrophy,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
363478,Paratesticular adenocarcinoma,Disease,Disorder,,0018192,C63.0,,C5190800,,,,Paratesticular adenocarcinoma,Adult,
363472,Tumor of testis and paratestis,Category,Group of disorders,,,,,C5679920,,,,,,
363489,Sex cord-stromal tumor of testis,Disease,Disorder,,0003125,D40.1,,C3840076,,,,Sex cord-stromal tumor of testis,"Adolescent, Adult",
363483,Testicular teratoma,Disease,Disorder,2C80.2,0018193,C62.9,273300,C0238451,C562472,10073120,,Testicular teratoma,"Adolescent, Adult, Childhood, Infancy",
357175,Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,Malformation syndrome,Disorder,,0014067,Q87.8,615162,C4750957,,,,Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
357329,Combined immunodeficiency due to IL21R deficiency,Disease,Disorder,,,D81.8,615207,C5191307,,,,Combined immunodeficiency due to IL21R deficiency,"Infancy, Neonatal",Autosomal recessive
357332,Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,Malformation syndrome,Disorder,,0014069,Q87.2,615170,C3554611,,,,Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,"Infancy, Neonatal",Autosomal recessive
357220,Primary essential cutis verticis gyrata,Disease,Disorder,EE7Y,0018167,Q82.8,,C4707327,,,,Primary essential cutis verticis gyrata,"Adolescent, Adult",
357225,Primary non-essential cutis verticis gyrata,Disease,Disorder,EE7Y,0018168,Q82.8,219300,C4755295,,,,Primary non-essential cutis verticis gyrata,"Adolescent, Childhood, Infancy, Neonatal",
357237,Combined immunodeficiency due to CARD11 deficiency,Disease,Disorder,,0014081,D81.2,615206,C5925010,,,,Combined immunodeficiency due to CARD11 deficiency,"Infancy, Neonatal",Autosomal recessive
357506,Genetic non-syndromic renal or urinary tract malformation,Category,Group of disorders,,,,,C5680986,,,,,,
357502,Idiopathic nephrotic syndrome,Clinical group,Group of disorders,,0018170,,,C3496337,,,,Idiopathic nephrotic syndrome,All ages,
356978,"D,L-2-hydroxyglutaric aciduria",Disease,Disorder,5C50.E1,0014072,E72.8,615182,C5574940,,,,"D,L-2-hydroxyglutaric aciduria","Infancy, Neonatal",Autosomal recessive
356947,3q26q27 microdeletion syndrome,Malformation syndrome,Disorder,,0018156,,,C4755255,,,,,,
356961,SLC35A2-CDG,Disease,Disorder,5C54.2,0010478,E77.8,300896,C3806688,,,12403,SLC35A2-CDG,"Infancy, Neonatal",Unknown
357008,Hemolytic uremic syndrome with DGKE deficiency,Disease,Disorder,3A10,18159,D58.8,615008,C5679921,,,,Hemolytic uremic syndrome with DGKE deficiency,Infancy,"Autosomal recessive, Not applicable"
357001,19p13.13 microdeletion syndrome,Malformation syndrome,Disorder,,0013336,Q93.5,613638,C3150894,,,,19p13.13 microdeletion syndrome,"Infancy, Neonatal",Unknown
356996,ANK3-related intellectual disability-sleep disturbance syndrome,Disease,Disorder,,14210,G93.8,615493,C5192596,,,,ANK3-related intellectual disability-sleep disturbance syndrome,Childhood,Autosomal recessive
357043,Amyotrophic lateral sclerosis type 4,Disease,Disorder,8B60.0,0011223,G12.2,602433,C1865409,C566550,,,Amyotrophic lateral sclerosis type 4,"Adolescent, Childhood",Autosomal dominant
357034,Non-hereditary retinoblastoma,Clinical subtype,Subtype of disorder,2D02.2,0018161,C69.2,180200,C5680987,,,,Non-hereditary retinoblastoma,"Infancy, Neonatal",Not applicable
357027,Hereditary retinoblastoma,Clinical subtype,Subtype of disorder,2D02.2,0018160,C69.2,180200,C0751483,,,,Hereditary retinoblastoma,"Infancy, Neonatal",Autosomal dominant
357074,"Autosomal recessive cutis laxa type 2, classic type",Clinical subtype,Subtype of disorder,,0009054,Q82.8,617402,C5679922,,,,"Autosomal recessive cutis laxa type 2, classic type","Infancy, Neonatal",Autosomal recessive
357064,Autosomal recessive cutis laxa type 2B,Disease,Disorder,LD28.2,0013051,Q82.8,612940,C2751987,C567855,,1641,Autosomal recessive cutis laxa type 2B,"Infancy, Neonatal",Autosomal recessive
357058,Autosomal recessive cutis laxa type 2A,Disease,Disorder,LD28.2,0018163,Q82.8,278250,C0268355,C562632,,1638,Autosomal recessive cutis laxa type 2A,Neonatal,Autosomal recessive
357158,Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,Disease,Disorder,,0011255,Q87.0,602562,C4750958,,,,Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,"Infancy, Neonatal",
357154,Oral submucous fibrosis,Disease,Disorder,DA02.2,0018166,K13.5,,C0029172,D009914,10031023,7264,Oral submucous fibrosis,All ages,
357131,Venous thoracic outlet syndrome,Clinical subtype,Subtype of disorder,,0018165,G54.0,,C1956396,,,,,,
357107,Arterial thoracic outlet syndrome,Clinical subtype,Subtype of disorder,,0018164,G54.0,,C1956395,,,,,,
352654,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,Disease,Disorder,,0014209,G31.8,615491,C4749947,,,,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,Childhood,Autosomal recessive
352662,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,Disease,Disorder,9B6Y,0014089,Q82.8,615225,C4751001,,,,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,All ages,Autosomal dominant
352657,Hereditary benign intraepithelial dyskeratosis,Disease,Disorder,DA02.0,0007486,Q82.8,127600,C0265966,C562551,,,Hereditary benign intraepithelial dyskeratosis,"Infancy, Neonatal",Autosomal dominant
352641,Autosomal recessive cerebellar ataxia with late-onset spasticity,Disease,Disorder,,0018129,G11.8,,C4706412,,,,Autosomal recessive cerebellar ataxia with late-onset spasticity,"Adolescent, Childhood",Autosomal recessive
352636,Phalangeal microgeodic syndrome,Disease,Disorder,FB86.2,0018128,M89.5,,C4749465,,,,Phalangeal microgeodic syndrome,Childhood,Not applicable
352649,Brain dopamine-serotonin vesicular transport disease,Disease,Disorder,,0018130,G25.8,618049,C4303546,,,13594,Brain dopamine-serotonin vesicular transport disease,"Infancy, Neonatal",Autosomal recessive
352596,Progressive myoclonic epilepsy with dystonia,Disease,Disorder,,0018126,G40.3,615338,C4706413,,,,Progressive myoclonic epilepsy with dystonia,"Infancy, Neonatal",Autosomal recessive
352629,16q24.1 microdeletion syndrome,Disease,Disorder,,0018127,Q93.5,,C4749464,,,,16q24.1 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
352613,Male infertility due to NANOS1 mutation,Disease,Disorder,,,,,,,,,,,
352577,Bainbridge-Ropers syndrome,Disease,Disorder,,0014205,Q87.0,615485,C4750837,C000726367,,13259,Bainbridge-Ropers syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
352587,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,Disease,Disorder,,0018125,Q04.8,605021,C4707306,,,,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,Infancy,Autosomal recessive
352582,Familial infantile myoclonic epilepsy,Disease,Disorder,,0011506,G40.3,618364,C0917800,,,,Familial infantile myoclonic epilepsy,"Infancy, Neonatal",Autosomal recessive
352728,Disorder of melanin metabolism,Category,Group of disorders,,0018134,,,C5680988,,,,,,
352731,Oculocutaneous albinism type 1,Disease,Disorder,EC23.20,0018135,E70.3,606952,C0268494,C537728,,4037,Oculocutaneous albinism type 1,"Infancy, Neonatal",Autosomal recessive
352734,Minimal pigment oculocutaneous albinism type 1,Clinical subtype,Subtype of disorder,EC23.20,0018136,E70.3,,C5679923,,,,Minimal pigment oculocutaneous albinism type 1,"Infancy, Neonatal",Autosomal recessive
352737,Temperature-sensitive oculocutaneous albinism type 1,Clinical subtype,Subtype of disorder,EC23.20,0018137,E70.3,606952,C1847132,C564645,,,Temperature-sensitive oculocutaneous albinism type 1,"Infancy, Neonatal",Autosomal recessive
352709,CLN13 disease,Disease,Disorder,5C56.1,0014147,E75.4,615362,C3715049,,,,CLN13 disease,"Adolescent, Adult, Childhood, Elderly",
352712,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,Disease,Disorder,,0014058,Q87.1,615139,C4749948,,,,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,"Infancy, Neonatal",Autosomal recessive
352718,Progressive retinal dystrophy due to retinol transport defect,Disease,Disorder,9B70,0014060,H35.5,615147,C4751000,,,,Progressive retinal dystrophy due to retinol transport defect,Childhood,Autosomal recessive
352723,Attenuated Chédiak-Higashi syndrome,Disease,Disorder,,0018133,E70.3,,C4304022,,,,Attenuated Chédiak-Higashi syndrome,Childhood,Autosomal recessive
352687,Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies,Clinical group,Group of disorders,,,,,C5679924,,,,,,
352694,OBSOLETE: Cobblestone lissencephaly type A,Category,Group of disorders,,,,,,,,,,,
352699,OBSOLETE: Cobblestone lissencephaly type C,Category,Group of disorders,,,,,,,,,,,
352704,OBSOLETE: Cobblestone lissencephaly type B,Disease,Disorder,,,,,,,,,,,
352665,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,Etiological subtype,Subtype of disorder,,,Q93.5,616580,C5679925,,,,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,"Infancy, Neonatal","Not applicable, Unknown"
352670,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,Disease,Disorder,8C20.2,0014074,G60.0,615185,C4749463,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,All ages,Autosomal dominant
352675,X-linked Charcot-Marie-Tooth disease type 6,Disease,Disorder,,0010479,G60.0,300905,C3806702,,,,X-linked Charcot-Marie-Tooth disease type 6,Childhood,X-linked dominant
352682,Cobblestone lissencephaly without muscular or ocular involvement,Disease,Disorder,,0014077,Q04.3,617255,C5191415,,,,Cobblestone lissencephaly without muscular or ocular involvement,"Childhood, Infancy",Autosomal recessive
353277,Rubinstein-Taybi syndrome due to CREBBP mutations,Etiological subtype,Subtype of disorder,,0008393,Q87.2,180849,C5681840,,,,Rubinstein-Taybi syndrome due to CREBBP mutations,"Antenatal, Neonatal",Autosomal dominant
353253,Burning mouth syndrome,Disease,Disorder,DA0F.0,0006687,K14.6,,C0006430,D002054,10068065,5974,Burning mouth syndrome,Adult,
353225,NON RARE IN EUROPE: Primary adult open-angle glaucoma,Disease,Disorder,,,H40.1,,,,,,,,
353220,Familial primary localized cutaneous amyloidosis,Disease,Disorder,,0007101,L99.0*,613955,C1304242,,,,Familial primary localized cutaneous amyloidosis,All ages,Autosomal dominant
353217,Epileptic encephalopathy with global cerebral demyelination,Disease,Disorder,5C53.30,0013056,E88.8,612949,C4512050,,,,Epileptic encephalopathy with global cerebral demyelination,Neonatal,Autosomal recessive
352763,Scleredema,Disease,Disorder,EE7Y,6606,M34.8,,C0036413,,10055953,5975,Scleredema,"Adolescent, Adult, Childhood, Infancy",Not applicable
352745,Oculocutaneous albinism type 7,Disease,Disorder,EC23.20,0014070,E70.3,615179,C3808786,,,,Oculocutaneous albinism type 7,Neonatal,Autosomal recessive
352740,Ocular albinism with congenital sensorineural deafness,Disease,Disorder,,,,,,,,,,,
353356,Vasoproliferative tumor of the retina,Disease,Disorder,2F36.Y,0018148,D31.2,,C4749792,,,,,,
353344,Idiopathic macular telangiectasia type 1,Disease,Disorder,9B75.3,0018146,H35.0,,C4751437,,,,Idiopathic macular telangiectasia type 1,Adult,
353351,Idiopathic macular telangiectasia type 3,Disease,Disorder,9B75.3,0018147,H35.0,,C4751436,,,,Idiopathic macular telangiectasia type 3,Adult,
353334,Congenital retinal arteriovenous communication,Morphological anomaly,Disorder,,0018145,Q14.1,,C0521570,,10038824,,Congenital retinal arteriovenous communication,"Infancy, Neonatal",
353320,"Pyruvate carboxylase deficiency, benign type",Clinical subtype,Subtype of disorder,5C53.03,0018143,E74.4,266150,C5679927,,,,"Pyruvate carboxylase deficiency, benign type",Infancy,Autosomal recessive
353327,Congenital myasthenic syndrome with glycosylation defect,Etiological subtype,Subtype of disorder,8C61,,G70.2,616228,C5680989,,,,Congenital myasthenic syndrome with glycosylation defect,"Infancy, Neonatal",Autosomal recessive
353308,"Pyruvate carboxylase deficiency, infantile type",Clinical subtype,Subtype of disorder,5C53.03,0018141,E74.4,266150,C5679928,,,,"Pyruvate carboxylase deficiency, infantile type",Infancy,Autosomal recessive
353314,"Pyruvate carboxylase deficiency, severe neonatal type",Clinical subtype,Subtype of disorder,5C53.03,0018142,E74.4,266150,C5679929,,,,"Pyruvate carboxylase deficiency, severe neonatal type","Infancy, Neonatal",Autosomal recessive
353298,Roifman syndrome,Disease,Disorder,4A01.32,0014722,Q77.7,616651,C1846059,C535866,,9163,Roifman syndrome,"Antenatal, Neonatal",Autosomal recessive
353281,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,Etiological subtype,Subtype of disorder,LD44.G1,0012519,Q87.2,610543,C1864648,,,10754,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,"Antenatal, Neonatal",Not applicable
353284,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,Etiological subtype,Subtype of disorder,,0013364,Q87.2,613684,C3150941,,,,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,Neonatal,Autosomal dominant
352298,OBSOLETE: Genetic muscular channelopathy,Category,Group of disorders,,,,,,,,,,,
352301,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis",Category,Group of disorders,,0018117,,,C5680990,,,,,,
352403,Spectrin-associated autosomal recessive cerebellar ataxia,Disease,Disorder,,0014159,G11.1,615386,C4706415,,,,Spectrin-associated autosomal recessive cerebellar ataxia,Infancy,Autosomal recessive
352333,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,Disease,Disorder,,0013760,Q80.8,614457,C3280856,,,,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,"Infancy, Neonatal",Autosomal recessive
352328,MEGDEL syndrome,Disease,Disorder,,0013875,E71.1,614739,C4040739,,,12963,MEGDEL syndrome,"Infancy, Neonatal",Autosomal recessive
352447,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,Disease,Disorder,,0014039,G71.3,615084,C4707098,,,,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,All ages,Autosomal recessive
352312,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement",Category,Group of disorders,,,,,C5680991,,,,,,
352309,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement",Category,Group of disorders,,,,,C5680992,,,,,,
352306,"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement",Category,Group of disorders,,,,,C5680993,,,,,,
352530,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,Disease,Disorder,,0018123,Q04.8,613192,C4706414,,,,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
352563,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,Disease,Disorder,5C53.2Y,0014162,E88.8,615395,C4749946,,,12892,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,"Infancy, Neonatal",Autosomal recessive
352540,Oncogenic osteomalacia,Disease,Disorder,FB80.Y,0018124,M83.8,,C1274103,C537751,,9652,Oncogenic osteomalacia,All ages,Not applicable
352479,ISPD-related limb-girdle muscular dystrophy R20,Disease,Disorder,,0014474,G71.0,616052,C5190987,,,,ISPD-related limb-girdle muscular dystrophy R20,"Childhood, Infancy",Autosomal recessive
352482,OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement,Disease,Disorder,,,,,,,,,,,
352456,Mitochondrial DNA maintenance syndrome,Category,Group of disorders,,0018121,,,C5679930,,,,,,
352470,DNA2-related mitochondrial DNA deletion syndrome,Disease,Disorder,,0014062,G71.3,615156,C5192959,,,,DNA2-related mitochondrial DNA deletion syndrome,All ages,Autosomal dominant
352497,OBSOLETE: Juvenile parkinsonism with intellectual disability due to DNAJC6 deficiency,Disease,Disorder,,,,,,,,,,,
352504,OBSOLETE: Levodopa-unresponsive juvenile parkinsonism,Disease,Disorder,,,,,,,,,,,
352487,Digital anomalies-intellectual disability-short stature syndrome,Disease,Disorder,,,,,,,,,,,
352490,Autism spectrum disorder due to AUTS2 deficiency,Disease,Disorder,,0014361,F84.1,615834,C4749945,,,,Autism spectrum disorder due to AUTS2 deficiency,"Infancy, Neonatal",Autosomal dominant
294951,Congenital joint dislocations,Category,Group of disorders,,,,,C5437774,,,,,,
294949,Non-syndromic joint formation defects,Category,Group of disorders,LB90,,,,C5925011,,,,,,
294955,Syndrome with limb reduction defects,Category,Group of disorders,,,,,C5680995,,,,,,
294953,Non-syndromic limb overgrowth,Category,Group of disorders,,,,,C5925012,,,,,,
294942,OBSOLETE: Postaxial polydactyly of fingers,Category,Group of disorders,,,,,,,,,,,
294939,OBSOLETE: Preaxial polydactyly of fingers,Category,Group of disorders,,,,,,,,,,,
294947,Congenital deformities of fingers,Category,Group of disorders,,,,,C0265605,,,,,,
294944,Congenital deformities of limbs,Category,Group of disorders,,0017427,,,C0206762,D017880,10024500,,,,
294931,OBSOLETE: Adactyly of hand,Category,Group of disorders,,,,,,,,,,,
294937,OBSOLETE: Brachydactyly,Category,Group of disorders,,,,,,,,,,,
294935,OBSOLETE: Split hand or/and split foot malformation,Category,Group of disorders,,,,,,,,,,,
294925,Non-syndromic amelia,Clinical group,Group of disorders,,,Q73.0,,C5925013,,10001926,,,,
294929,OBSOLETE: Terminal limb defects,Category,Group of disorders,,,,,,,,,,,
294927,Non-syndromic intercalary limb defects,Clinical group,Group of disorders,,,,,C5925014,,,,,,
294415,Renal-hepatic-pancreatic dysplasia,Malformation syndrome,Disorder,LB2Y,0017417,Q45.8,615415,C2673883,C567142,,,Renal-hepatic-pancreatic dysplasia,"Antenatal, Neonatal",Autosomal recessive
294422,Chronic intestinal failure,Clinical syndrome,Disorder,DA96.05,0017418,K63.8,,C4274352,,,,Chronic intestinal failure,All ages,Not applicable
294049,Reunion Island Larsen-like syndrome,Disease,Disorder,,,,,,,,,,,
294057,Rare nevus,Category,Group of disorders,,,,,C5680997,,,,,,
294060,Multiple pterygium syndrome,Clinical group,Group of disorders,LD26.40,0017415,,,C5848053,C537377,,,,,
293987,Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,Disease,Disorder,5A61.Y,0017408,E66.8,,C4751121,,10081396,10407,Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,"Childhood, Infancy",Unknown
294016,Microcephaly-capillary malformation syndrome,Malformation syndrome,Disorder,LD2F.1Y,0013659,Q87.8,614261,C3280296,,,,Microcephaly-capillary malformation syndrome,"Infancy, Neonatal",Autosomal recessive
294023,Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome,Disease,Disorder,4A6Y,0017411,D84.8,614328,C4751120,,,,Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome,"Infancy, Neonatal",Autosomal recessive
294026,Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,Malformation syndrome,Disorder,,0013363,Q92.3,613681,C5190993,,,,Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,Neonatal,Unknown
293964,Hypoinsulinemic hypoglycemia and body hemihypertrophy,Disease,Disorder,5A4Y,0009416,Q87.3,240900,C4751124,,,,Hypoinsulinemic hypoglycemia and body hemihypertrophy,"Infancy, Neonatal",Autosomal dominant
293967,Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,Malformation syndrome,Disorder,,0017406,Q87.8,,C4751123,,,,Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
293978,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,Disease,Disorder,4A01.0Y,0017407,E23.0,615577,C4751122,,,,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,Childhood,Autosomal dominant
293958,Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,Malformation syndrome,Disorder,,0013614,Q87.8,614187,C4751125,,,,Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,"Infancy, Neonatal",Autosomal dominant
293955,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,Disease,Disorder,,0013761,G96.8,614458,C4751138,,,13571,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,"Infancy, Neonatal",Autosomal recessive
293948,1p21.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.11,0017405,Q93.5,,C4304578,,,,1p21.3 microdeletion syndrome,No data available,Unknown
293939,Distal Xq28 microduplication syndrome,Malformation syndrome,Disorder,,0017404,Q99.8,300815,C4751127,,,,Distal Xq28 microduplication syndrome,"Infancy, Neonatal",X-linked recessive
293936,EDICT syndrome,Disease,Disorder,9B3Y,0013678,H18.6,614303,C3280392,,,,EDICT syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
293925,Lethal occipital encephalocele-skeletal dysplasia syndrome,Malformation syndrome,Disorder,,0013740,Q87.5,614416,C4751129,,,,Lethal occipital encephalocele-skeletal dysplasia syndrome,"Infancy, Neonatal",Autosomal recessive
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",Clinical subtype,Subtype of disorder,BC43.6,0017403,I42.8,107970,C5925015,,,,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",,Autosomal dominant
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",Clinical subtype,Subtype of disorder,BC43.6,0017402,I42.8,610193,C5925016,,,,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",,Autosomal dominant
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",Clinical subtype,Subtype of disorder,BC43.6,0017401,I42.8,610193,C5925017,,,,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",,Autosomal dominant
293864,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,Malformation syndrome,Disorder,LB2Y,0017400,Q45.8,615710,C4751130,,,5237,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,"Infancy, Neonatal",Autosomal recessive
293848,"Frontotemporal dementia, right temporal atrophy variant",Disease,Disorder,,,,,,,,,,,
293838,Fatal infantile encephalopathy-pulmonary hypertension syndrome,Disease,Disorder,,,,,,,,,,,
293843,3MC syndrome,Malformation syndrome,Disorder,LD2F.1Y,0017398,Q87.8,265050,C4303860,,,1118,3MC syndrome,"Antenatal, Neonatal",Autosomal recessive
293830,Constitutional dyserythropoietic anemia,Category,Group of disorders,,,,,C5680998,,,,Constitutional dyserythropoietic anemia,"Infancy, Neonatal",
293822,MITF-related melanoma and renal cell carcinoma predisposition syndrome,Disease,Disorder,,0013759,C43.9,614456,C4749577,,,,MITF-related melanoma and renal cell carcinoma predisposition syndrome,"Adult, Elderly",
293825,Congenital dyserythropoietic anemia type IV,Disease,Disorder,3A73,0013355,D64.4,613673,C3150926,,,,Congenital dyserythropoietic anemia type IV,"Infancy, Neonatal",Autosomal dominant
293812,Fixed drug eruption,Disease,Disorder,EH66,0017395,L25.1,,C0221242,,10016740,,Fixed drug eruption,All ages,Not applicable
293815,Toxic dermatosis,Category,Group of disorders,,0017396,,,C5680999,,,,Toxic dermatosis,All ages,Not applicable
293807,Ketamine-induced biliary dilatation,Disease,Disorder,NE60,0017394,X44,,C4512018,,,,Ketamine-induced biliary dilatation,All ages,Not applicable
293725,"Blepharophimosis-intellectual disability syndrome, Verloes type",Malformation syndrome,Disorder,,0011432,Q87.8,604314,C4755262,,,,"Blepharophimosis-intellectual disability syndrome, Verloes type","Antenatal, Infancy, Neonatal",Unknown
293642,Blepharophimosis-intellectual disability syndrome,Clinical group,Group of disorders,,0017393,,,C5229849,,,10892,Blepharophimosis-intellectual disability syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive"
293707,"Blepharophimosis-intellectual disability syndrome, MKB type",Malformation syndrome,Disorder,,0010477,Q87.8,300895,C3698541,,,,"Blepharophimosis-intellectual disability syndrome, MKB type","Infancy, Neonatal",X-linked recessive
293633,PYCR1-related De Barsy syndrome,Etiological subtype,Subtype of disorder,,0013755,Q87.8,614438,C3280799,,,,PYCR1-related De Barsy syndrome,,Autosomal recessive
295075,"OBSOLETE: Ulnar hemimelia, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295073,"OBSOLETE: Ulnar hemimelia, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295079,"OBSOLETE: Tibial hemimelia, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295077,"OBSOLETE: Tibial hemimelia, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295083,"OBSOLETE: Fibular hemimelia, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295081,"OBSOLETE: Fibular hemimelia, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295087,"OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295085,"OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295059,"OBSOLETE: Amelia of lower limb, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295057,"OBSOLETE: Amelia of lower limb, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295063,"OBSOLETE: Humeral agenesis/hypoplasia, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295061,"OBSOLETE: Humeral agenesis/hypoplasia, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295067,"OBSOLETE: Femoral agenesis/hypoplasia, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295065,"OBSOLETE: Femoral agenesis/hypoplasia, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295071,"OBSOLETE: Radial hemimelia, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295069,"OBSOLETE: Radial hemimelia, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295038,"OBSOLETE: Patella aplasia/hypoplasia, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295041,"OBSOLETE: Patella aplasia/hypoplasia, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295044,Macrodactyly of fingers,Morphological anomaly,Disorder,LB97.0,0017474,Q74.0,155500,C0574044,C537720,,8529,Macrodactyly of fingers,"Infancy, Neonatal",
295047,Macrodactyly of toes,Morphological anomaly,Disorder,LB97.1,0017475,Q74.2,155500,C0158768,,,6951,Macrodactyly of toes,"Infancy, Neonatal",
295049,Upper limb hypertrophy,Morphological anomaly,Disorder,LB97.2,0017476,Q74.0,,C0575518,,,,,,
295051,Lower limb hypertrophy,Morphological anomaly,Disorder,LB97.3,0017477,Q74.2,,C0431928,,,,,,
295053,"OBSOLETE: Amelia of upper limb, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295055,"OBSOLETE: Amelia of upper limb, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295022,Congenital pseudoarthrosis of the fibula,Clinical subtype,Subtype of disorder,LB9Y,0017464,Q74.2,,C5679935,,,,,,
295024,Congenital pseudoarthrosis of the radius,Clinical subtype,Subtype of disorder,LB9Y,0017465,Q74.0,,C5679936,,,,,,
295026,Congenital pseudoarthrosis of the ulna,Clinical subtype,Subtype of disorder,LB9Y,0017466,Q74.0,,C5679937,,,,,,
295028,Isolated tibio-fibular synostosis,Morphological anomaly,Disorder,LB90.6,0017467,Q74.2,,C5925018,,,,,,
295030,True congenital shoulder dislocation,Morphological anomaly,Disorder,LB91,,Q68.8,,C5886734,,,,,,
295032,Isolated congenital radial head dislocation,Morphological anomaly,Disorder,LB92,17469,Q68.8,,C0265563,,,,,,
295034,Congenital knee dislocation,Morphological anomaly,Disorder,LB93,0017470,Q68.2,,C0265669,,10010520,,,,
295036,Congenital patella dislocation,Morphological anomaly,Disorder,LB94,0017471,Q74.1,,C0345360,C538081,,9692,Congenital patella dislocation,"Infancy, Neonatal",
295012,Syndactyly type 6,Morphological anomaly,Disorder,LB79.Y,0017460,Q70.1,,C4706525,,,,,,
295010,OBSOLETE: Central polydactyly of toes,Morphological anomaly,Disorder,,,,,,,,,,,
295008,OBSOLETE: Postaxial polydactyly of toes,Morphological anomaly,Disorder,,,,,,,,,,,
295006,OBSOLETE: Preaxial polydactyly of toes,Morphological anomaly,Disorder,,,,,,,,,,,
295020,Congenital pseudoarthrosis of the femur,Clinical subtype,Subtype of disorder,LB9Y,0017463,Q74.2,,C5679939,,,,,,
295018,Congenital pseudoarthrosis of the tibia,Clinical subtype,Subtype of disorder,LB9Y,0017462,Q74.2,,C0265661,,,,,,
295016,Camptodactyly of fingers,Morphological anomaly,Disorder,LB80.Y,0007250,Q68.1,114200,C5551400,,,9448,,,
295014,Familial isolated clinodactyly of fingers,Morphological anomaly,Disorder,LB80.0,0017461,Q68.1,,C4706540,,,,,,
294996,OBSOLETE: Brachydactyly of fingers,Morphological anomaly,Disorder,,,,,,,,,,,
294994,OBSOLETE: Split foot,Morphological anomaly,Disorder,,,,,,,,,,,
294992,OBSOLETE: Split hand,Morphological anomaly,Disorder,,,,,,,,,,,
294990,OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb,Morphological anomaly,Disorder,,,,,,,,,,,
295004,Central polydactyly,Morphological anomaly,Disorder,LB78.Y,,Q69.0,,C0431903,,,,,,
295002,Isolated hyperphalangy,Morphological anomaly,Disorder,LB77,0017455,Q74.8,,C4706507,,,,,,
295000,Amniotic band syndrome,Malformation syndrome,Disorder,LD26.5,0015167,Q79.8,217100,C0002636,D000652,10064100,429,Amniotic band syndrome,"Antenatal, Neonatal",
294998,OBSOLETE: Brachydactyly of toes,Morphological anomaly,Disorder,,,,,,,,,,,
294977,Isolated absence of thigh and lower leg with foot present,Morphological anomaly,Disorder,LB9A.3,0017442,Q72.1,,C5925019,,,,,,
294979,Isolated absence of both forearm and hand,Morphological anomaly,Disorder,LB99.5,0017443,Q71.2,,C5925020,,,,,,
294973,Isolated humeral agenesis/hypoplasia,Morphological anomaly,Disorder,LB99.1,0017440,Q71.8,,C5925021,,,,,,
294975,Isolated absence of upper arm and forearm with hand present,Morphological anomaly,Disorder,LB99.4,0017441,Q71.1,,C5925022,,,12123,Isolated absence of upper arm and forearm with hand present,"Infancy, Neonatal",
294986,Isolated apodia,Morphological anomaly,Disorder,LB9A.4,0017446,Q72.3,,C5925023,,,,,,
294988,Isolated hypoplasia of thumb,Morphological anomaly,Disorder,LB99.7,,Q71.3,,C5925024,,,,,,
294981,Isolated absence of both lower leg and foot,Morphological anomaly,Disorder,LB9A.7,0017444,Q72.2,,C5925025,,,,,,
294983,Isolated acheiria,Morphological anomaly,Disorder,LB99.6,0017445,Q71.3,,C5925026,,,,,,
294961,OBSOLETE: Syndromes with synostoses of limbs,Category,Group of disorders,,,,,,,,,,,
294963,Popliteal pterygium syndrome,Clinical group,Group of disorders,,0017435,,,C0265259,C562509,10079892,,Popliteal pterygium syndrome,"Antenatal, Neonatal",Autosomal dominant
294957,Dysostosis with combined reduction defects of upper and lower limbs,Category,Group of disorders,LD26.0,,,,C5681000,,,,,,
294959,"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy",Category,Group of disorders,LD26.2,,,,C5681001,,,,,,
294969,Isolated amelia of lower limb,Morphological anomaly,Disorder,LB9A.0,0017438,Q72.0,,C5925027,,,,,,
294971,Isolated tetra-amelia,Morphological anomaly,Disorder,LB9B,0017439,Q73.0,,C5925028,C536498,,5148,Isolated tetra-amelia,Antenatal,
294965,Lethal congenital contracture syndrome,Clinical group,Group of disorders,,0017436,,,C5848326,,,12643,,,
294967,Isolated amelia of upper limb,Morphological anomaly,Disorder,LB99.0,0017437,Q71.0,,C5925029,,,,,,
290842,Autoinflammatory syndrome with skin involvement,Category,Group of disorders,,,,,C5681002,,,,,,
290849,Rare head and neck tumor,Category,Group of disorders,,,,,C5681003,,,,,,
289891,Hypermethioninemia due to glycine N-methyltransferase deficiency,Disease,Disorder,5C50.B,0011698,E72.1,606664,C1847720,,,10764,Hypermethioninemia due to glycine N-methyltransferase deficiency,,Autosomal recessive
289902,3-methylglutaconic aciduria,Clinical group,Group of disorders,,0017359,,,C3696376,C579867,,,,,
289899,Organic aciduria,Category,Group of disorders,5C50.E,0000688,,,C0241775,,,9433,,,
289866,Disorder of proline metabolism,Category,Group of disorders,5C50.8,0017355,,,C5681004,,,,,,
289863,Atypical glycine encephalopathy,Clinical subtype,Subtype of disorder,5C50.70,0015010,E72.5,605899,C5548198,,,,Atypical glycine encephalopathy,All ages,Unknown
289877,Transient hyperammonemia of the newborn,Particular clinical situation in a disease or syndrome,Disorder,5C50.AY,0017357,P74.8,,C0268549,,,,Transient hyperammonemia of the newborn,Neonatal,
289869,Disorder of ornithine metabolism,Category,Group of disorders,5C50.9,0017356,E72.4,,C0342690,,,,,,
290839,Autoinflammatory syndrome with immune deficiency,Category,Group of disorders,,,,,C5681005,,,,,,
290836,Systemic disease with skin involvement,Category,Group of disorders,,,,,C5681006,,,,,,
289916,Vitamin B12-unresponsive methylmalonic acidemia type mut0,Clinical subtype,Subtype of disorder,5C50.E0,0017360,E71.1,251000,C0342718,,,,Vitamin B12-unresponsive methylmalonic acidemia type mut0,"Infancy, Neonatal",Autosomal recessive
289682,Lymphoepithelial-like carcinoma,Disease,Disorder,,0017348,C80.9,,C0334254,,,,,,
289685,Myopericytoma,Disease,Disorder,,0017349,D21.9,,C1302808,D000077777,10083440,,,,
289661,Epstein-Barr virus-positive diffuse large B-cell lymphoma,Disease,Disorder,2A81.6,0017346,C83.3,,C2700007,,,,Epstein-Barr virus-positive diffuse large B-cell lymphoma,"Adult, Elderly",Not applicable
289666,Plasmablastic lymphoma,Disease,Disorder,2A81.2,0017347,C83.3,,C3472614,D000069293,10065039,12125,,,
289651,Epstein-Barr Virus-associated carcinoma,Category,Group of disorders,,0017344,,,C5679940,,,,,,
289656,Epstein-Barr Virus-associated mesenchymal tumor,Category,Group of disorders,,0017345,,,C5679941,,,,,,
289638,Epstein-Barr Virus-related tumor,Category,Group of disorders,,0017342,,,C5679942,,,,,,
289644,Epstein-Barr virus-associated malignant lymphoproliferative disorder,Category,Group of disorders,,0017343,,,C2363744,,10068349,,,,
289857,Neonatal glycine encephalopathy,Clinical subtype,Subtype of disorder,5C50.70,0017353,E72.5,605899,C5548200,,,,Neonatal glycine encephalopathy,"Infancy, Neonatal",Autosomal recessive
289860,Infantile glycine encephalopathy,Clinical subtype,Subtype of disorder,5C50.70,0017354,E72.5,605899,C5548209,,,,Infantile glycine encephalopathy,"Infancy, Neonatal",Autosomal recessive
289846,Glutathione synthetase deficiency with 5-oxoprolinuria,Clinical subtype,Subtype of disorder,3A10.0Y,0009947,D55.1,266130,C5848078,,,,Glutathione synthetase deficiency with 5-oxoprolinuria,,Autosomal recessive
289849,Glutathione synthetase deficiency without 5-oxoprolinuria,Clinical subtype,Subtype of disorder,3A10.0Y,0009284,D55.1,231900,C1856399,,,,Glutathione synthetase deficiency without 5-oxoprolinuria,,Autosomal recessive
289832,Disorder of lysine and hydroxylysine metabolism,Category,Group of disorders,5C50.4,0017351,E72.3,,C0268552,,,,,,
289841,Disorder of glutamine metabolism,Category,Group of disorders,,0017352,,,C0342669,,,,,,
289825,Late-onset primary lymphedema without systemic or visceral involvement,Clinical group,Group of disorders,,,,,C5681007,,,,,,
289829,Disorder of tryptophan metabolism,Category,Group of disorders,5C50.3,0017350,,,C0041254,,,,,,
289573,Multiple mitochondrial dysfunctions syndrome,Clinical group,Group of disorders,,0017338,,,C3502075,C565304,,12632,Multiple mitochondrial dysfunctions syndrome,,Autosomal recessive
289560,Mitochondrial membrane protein-associated neurodegeneration,Disease,Disorder,5C64.10,0013674,G23.0,614298,C3280371,,,12569,Mitochondrial membrane protein-associated neurodegeneration,"Adolescent, Adult, Childhood",Autosomal recessive
289553,Dysmorphism-conductive hearing loss-heart defect syndrome,Malformation syndrome,Disorder,,0014044,Q87.8,615102,C3554774,,,,Dysmorphism-conductive hearing loss-heart defect syndrome,"Infancy, Neonatal",Autosomal dominant
289548,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,Disease,Disorder,5A74.Y,0017337,E27.1,613743,C4707238,,,,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,"Infancy, Neonatal",Autosomal recessive
289539,BAP1-related tumor predisposition syndrome,Disease,Disorder,,0013692,D23.9,614327,C4707290,,,13219,BAP1-related tumor predisposition syndrome,Adult,Autosomal dominant
289635,Rare virus associated tumor,Category,Group of disorders,,,,,C5681008,,,,,,
289601,Hereditary arterial and articular multiple calcification syndrome,Disease,Disorder,BD52,0008895,I77.8,211800,C1859372,C565891,,10762,Hereditary arterial and articular multiple calcification syndrome,Adult,Autosomal recessive
289596,Juvenile nasopharyngeal angiofibroma,Disease,Disorder,2E90.6,0017340,D10.6,,C1367536,,,,Juvenile nasopharyngeal angiofibroma,"Adolescent, Childhood",Not applicable
289586,Exfoliative ichthyosis,Disease,Disorder,EC20.02,0017339,Q80.8,617115,C1838440,C563978,,,Exfoliative ichthyosis,"Infancy, Neonatal",Autosomal recessive
293355,Methylmalonic acidemia without homocystinuria,Clinical group,Group of disorders,,,,,C5848400,,,,Methylmalonic acidemia without homocystinuria,All ages,"Autosomal dominant, Autosomal recessive, X-linked dominant"
293375,Grayson-Wilbrandt corneal dystrophy,Disease,Disorder,9A70.Y,0017391,H18.5,,C4305579,,,,Grayson-Wilbrandt corneal dystrophy,"Adolescent, Adult, Childhood",Autosomal dominant
293381,Epithelial recurrent erosion dystrophy,Disease,Disorder,9A70.Y,0007381,H18.5,122400,C1852551,C565155,,,Epithelial recurrent erosion dystrophy,Childhood,Autosomal dominant
293462,Pre-Descemet corneal dystrophy,Disease,Disorder,9A70.Y,0017392,H18.5,,C0339282,,,,Pre-Descemet corneal dystrophy,Adult,Unknown
293603,Congenital hereditary endothelial dystrophy type II,Disease,Disorder,9A70.0,0009019,H18.5,217700,C1857569,C536439,,6196,Congenital hereditary endothelial dystrophy type II,"Infancy, Neonatal",Autosomal recessive
293621,X-linked endothelial corneal dystrophy,Disease,Disorder,9A70.0,0010426,H18.5,300779,C2749049,C567587,,,X-linked endothelial corneal dystrophy,"Infancy, Neonatal",X-linked recessive
811,Shwachman-Diamond syndrome,Disease,Disorder,3A70.0,0009833,D61.0,617941,C0272170,D000081003,10067940,4863,Shwachman-Diamond syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
2689,Intermittent neutropenia,Disease,Disorder,,,,,,,,,,,
2687,Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome,Disease,Disorder,,,,,C2930809,,,,,,
336,NON RARE IN EUROPE: Fibromuscular dysplasia of arteries,Disease,Disorder,,,I77.3,,,,,,,,
293150,Familial clubfoot due to PITX1 point mutation,Etiological subtype,Subtype of disorder,LB98.Y,0017383,Q66.8,119800,C5679943,,,,Familial clubfoot due to PITX1 point mutation,,Autosomal dominant
741,Familial mitral valve prolapse,Morphological anomaly,Disorder,LA87.1Y,0008004,I34.1,610840,C0340364,,,3687,Familial mitral valve prolapse,,Autosomal dominant
293144,Familial clubfoot due to 5q31 microdeletion,Etiological subtype,Subtype of disorder,LB98.Y,0017382,Q66.8,119800,C5679944,,,,Familial clubfoot due to 5q31 microdeletion,,Not applicable
293168,Infantile-onset ascending hereditary spastic paralysis,Disease,Disorder,,0011797,G12.2,607225,C2931441,C537217,,4914,Infantile-onset ascending hereditary spastic paralysis,"Infancy, Neonatal",Autosomal recessive
293165,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,Disease,Disorder,,0011882,Q82.8,,C4755263,,,5231,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
428,Autosomal dominant hypocalcemia,Clinical subtype,Subtype of disorder,5A50.0Y,0018543,E20.8,615361,C4048195,,,2877,Autosomal dominant hypocalcemia,All ages,Autosomal dominant
293181,Epilepsy of infancy with migrating focal seizures,Disease,Disorder,8A61.12,0017385,G40.0,616645,C3494976,,10086114,12919,Epilepsy of infancy with migrating focal seizures,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
2298,Insulin-resistance syndrome type B,Disease,Disorder,5A44,0016464,E34.8,,C0342337,,,3009,Insulin-resistance syndrome type B,"Adolescent, Adult, Childhood, Elderly",Not applicable
293173,Acute generalized exanthematous pustulosis,Disease,Disorder,,0017384,L27.0,,C0877055,D056150,10048799,,Acute generalized exanthematous pustulosis,All ages,"Multigenic/multifactorial, Not applicable"
2207,Familial primary hyperparathyroidism,Clinical group,Group of disorders,,0016365,,,C0271846,,,,Familial primary hyperparathyroidism,Childhood,Autosomal dominant
293199,Pleomorphic rhabdomyosarcoma,Clinical subtype,Subtype of disorder,,0017386,C49.9,,C0334480,,,,Pleomorphic rhabdomyosarcoma,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
393,"46,XX testicular difference of sex development",Malformation syndrome,Disorder,LD2A.Y,0100249,Q99.1,400045,C2936419,D058531,10087158,399,"46,XX testicular difference of sex development","Adolescent, Antenatal, Neonatal",Autosomal dominant
293190,OBSOLETE: Pleomorphic undifferentiated sarcoma,Disease,Disorder,,,,,,,,,,,
293202,Epithelioid sarcoma,Disease,Disorder,2B5F.2,0017387,C49.9,,C0205944,,10015099,10181,Epithelioid sarcoma,"Adolescent, Adult, Childhood",Not applicable
293284,Tetrahydrobiopterin-responsive phenylketonuria,Clinical subtype,Subtype of disorder,,0017389,E70.1,261600,C5679945,,,,Tetrahydrobiopterin-responsive phenylketonuria,"Infancy, Neonatal",Autosomal recessive
293208,Celiac artery compression syndrome,Disease,Disorder,BD52.5,0017388,I77.4,,C1861783,,10009838,12308,Celiac artery compression syndrome,"Adolescent, Adult, Childhood, Elderly",Not applicable
2459,Mansonelliasis,Disease,Disorder,1F66.1,0005838,B74.4,,C0024759,D008368,10089224,8216,Mansonelliasis,All ages,Not applicable
2404,Loiasis,Disease,Disorder,1F66.0,0016566,B74.3,,C0023968,D008118,10024797,3283,Loiasis,All ages,Not applicable
2394,Pyruvate dehydrogenase E3 deficiency,Clinical subtype,Subtype of disorder,5C53.02,0009529,E74.4,246900,,,,3263,Pyruvate dehydrogenase E3 deficiency,Childhood,Autosomal recessive
2356,Arachnoid cyst,Morphological anomaly,Disorder,8D67,0008813,G93.0,207790,C0078981,D016080,10049005,17,Arachnoid cyst,Childhood,"Autosomal recessive, Not applicable"
829,Adult-onset Still disease,Disease,Disorder,FA23,0019355,M06.1,,C0085253,D016706,10064056,436,Adult-onset Still disease,"Adult, Elderly",Not applicable
3096,Reye syndrome,Disease,Disorder,8E46,0005942,G93.7,,C0035400,D012202,10039012,7570,Reye syndrome,"Adolescent, Adult, Childhood, Infancy",
1929,Rasmussen subacute encephalitis,Disease,Disorder,8A62.Y,0016019,G04.8,,C2930868,C535291,10071141,,Rasmussen subacute encephalitis,Childhood,Not applicable
1183,Opsoclonus-myoclonus syndrome,Disease,Disorder,9C85.02,0015247,G25.3,,C0393626,D053578,10053854,10009,Opsoclonus-myoclonus syndrome,"Childhood, Infancy",Not applicable
2688,Adult idiopathic neutropenia,Disease,Disorder,4B00.01,0011922,D70,607847,C5191335,,,,Adult idiopathic neutropenia,Adult,Not applicable
2686,Cyclic neutropenia,Disease,Disorder,4B00.00,0008090,D70,162800,C0221023,C536227,10053176,6229,Cyclic neutropenia,All ages,Autosomal dominant
890,Hepatic veno-occlusive disease,Disease,Disorder,DB98.6,0019514,K76.5,,C0019156,D006504,10047216,13004,Hepatic veno-occlusive disease,All ages,Not applicable
176,Non-rhizomelic chondrodysplasia punctata,Clinical group,Group of disorders,,0015775,,,C5681009,,,,Non-rhizomelic chondrodysplasia punctata,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive"
231,Dracunculiasis,Disease,Disorder,1F64,0016472,B72,,C0013100,D004320,10013618,6286,Dracunculiasis,All ages,
2035,Lymphatic filariasis,Disease,Disorder,1F66.30,,B74.2,,C0013884,,10016675,3321,Lymphatic filariasis,All ages,Not applicable
80,Antiphospholipid syndrome,Disease,Disorder,4A45,8000010,D68.6,,C0085278,D016736,10002817,5824,,,
285657,Disorder of folate metabolism and transport,Category,Group of disorders,5C63.1,0017313,,,C5681010,,,,,,
284786,Qualitative or quantitative defects of troponin,Category,Group of disorders,,,,,C5681011,,,,,,
284790,Qualitative or quantitative defects of tropomyosin,Category,Group of disorders,,0017303,,,C5681012,,,,,,
284804,Ocular albinism,Clinical group,Group of disorders,9E1Y,0017304,,,C0078917,D016117,10065276,,,,
284448,CLIPPERS,Disease,Disorder,8E4A.0,0017297,G04.8,,C3854437,,10075197,10779,CLIPPERS,Adult,Not applicable
284454,Acute zonal occult outer retinopathy,Disease,Disorder,9B65.0,0017298,H35.0,,C0730298,,,8640,Acute zonal occult outer retinopathy,"Adolescent, Adult",Not applicable
284460,Acute annular outer retinopathy,Disease,Disorder,9B71.Y,0017299,H35.8,,C5191002,,,,Acute annular outer retinopathy,Adult,Not applicable
284414,"Glycerol kinase deficiency, adult form",Clinical subtype,Subtype of disorder,5C51.1,0017296,E74.8,307030,C5681013,,,,"Glycerol kinase deficiency, adult form",Adult,X-linked recessive
284417,"Phosphoserine aminotransferase deficiency, infantile/juvenile form",Etiological subtype,Subtype of disorder,,,E72.8,610992,C1970253,,,13273,"Phosphoserine aminotransferase deficiency, infantile/juvenile form","Infancy, Neonatal",Autosomal dominant
284426,Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,Clinical subtype,Subtype of disorder,5C51.3,0013047,E74.0,612933,C2931743,C538133,,3160,Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,Childhood,Autosomal recessive
284435,Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,Clinical subtype,Subtype of disorder,5C51.3,0013587,E74.0,614128,C3279904,C563641,,3161,Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,Adult,"Autosomal dominant, Autosomal recessive"
285014,Rare disease with thoracic aortic aneurysm and aortic dissection,Category,Group of disorders,,,,,C5681014,,,,,,
284993,Marfan syndrome and Marfan-related disorders,Category,Group of disorders,,0017310,,,C5681015,,,,,,
284973,Marfan syndrome type 2,Clinical subtype,Subtype of disorder,LD28.01,,Q87.4,610168,C2931058,,,,Marfan syndrome type 2,All ages,Autosomal dominant
284963,Marfan syndrome type 1,Clinical subtype,Subtype of disorder,LD28.01,,Q87.4,154700,C4721845,,,,Marfan syndrome type 1,All ages,Autosomal dominant
284984,Aneurysm-osteoarthritis syndrome,Disease,Disorder,LD28.0Y,0013426,Q87.8,613795,C4760764,,,10997,Aneurysm-osteoarthritis syndrome,All ages,Autosomal dominant
284979,Neonatal Marfan syndrome,Disease,Disorder,LD28.0Y,0017309,Q87.4,,C4016054,,,,Neonatal Marfan syndrome,"Infancy, Neonatal",Autosomal dominant
284814,Disorder of phenylalanine metabolism,Category,Group of disorders,,0017306,,,C0268461,,,,,,
284811,Syndromic oculocutaneous albinism,Category,Group of disorders,,0017305,,,C5681016,,,,,,
284818,Disorder of tyrosine metabolism,Category,Group of disorders,5C50.1,0017307,E70.2,,C0268482,,,,,,
289362,Non-central nervous system-localized embryonal carcinoma,Clinical subtype,Subtype of disorder,,0017328,C22.7,,C5679946,,,,,,
289365,Familial vesicoureteral reflux,Malformation syndrome,Disorder,GB56.5,0017329,N13.7,615963,C4706552,,,,Familial vesicoureteral reflux,All ages,Autosomal dominant
289347,Infective dermatitis associated with HTLV-1,Disease,Disorder,EA88.00,0017326,L30.3,,C4274291,,,,Infective dermatitis associated with HTLV-1,Childhood,Not applicable
289356,Primary non-gestational choriocarcinoma of ovary,Disease,Disorder,2C73.Y,0017327,C56,,C4274424,,,,Primary non-gestational choriocarcinoma of ovary,Adolescent,Unknown
289377,Early-onset myopathy with fatal cardiomyopathy,Disease,Disorder,8C7Y,0012714,G71.8,611705,C2673677,C567129,,,Early-onset myopathy with fatal cardiomyopathy,"Infancy, Neonatal",Autosomal recessive
289380,Myosclerosis,Disease,Disorder,8C72.1,0009714,G71.8,255600,C1850671,C564968,10064584,,Myosclerosis,Childhood,Autosomal recessive
289290,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,Disease,Disorder,5C50.B,,E72.1,614300,C4706555,,,,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,Childhood,Autosomal recessive
289266,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,Disease,Disorder,8A61.2Y,0017325,E72.1,245570,C4749281,,,,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,Childhood,Autosomal dominant
289326,Tropical spastic paraparesis,Disease,Disorder,8A45.00,0008039,G04.1,159580,C0030481,D015493,10044696,8208,Tropical spastic paraparesis,Adult,Not applicable
289307,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,Disease,Disorder,5C50.E0,0013579,E71.1,614105,C5190633,,,,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
289504,Combined malonic and methylmalonic acidemia,Disease,Disorder,,0013661,E71.1,614265,C3280314,C580002,,10818,Combined malonic and methylmalonic acidemia,All ages,"Autosomal dominant, Autosomal recessive"
289499,Congenital cataract microcornea with corneal opacity,Malformation syndrome,Disorder,9B3Y,0010015,Q12.0,269400,C5779991,,,,Congenital cataract microcornea with corneal opacity,"Infancy, Neonatal",Autosomal recessive
289494,4H leukodystrophy,Disease,Disorder,8A44.Z,,G37.8,,C5679947,,,,4H leukodystrophy,"Adolescent, Adult, Childhood, Infancy",
289527,OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency,Disease,Disorder,,,,,,,,,,,
289522,Microtriplication 11q24.1 syndrome,Malformation syndrome,Disorder,,0017335,Q99.8,,C4749373,,,,Microtriplication 11q24.1 syndrome,Childhood,
289513,12q15q21 microdeletion syndrome,Etiological subtype,Subtype of disorder,,0017334,Q93.5,618608,C4518344,,,,12q15q21 microdeletion syndrome,"Infancy, Neonatal",Autosomal dominant
289465,Isolated congenital adermatoglyphia,Disease,Disorder,,0007619,Q82.8,136000,C4706567,,,12550,Isolated congenital adermatoglyphia,"Infancy, Neonatal",Autosomal dominant
289395,NON RARE IN EUROPE: Secondary Sjögren syndrome,Disease,Disorder,,,,,,,,,,,
289390,Primary Sjögren disease,Disease,Disorder,4A43.20,0010030,M35.0,270150,C0151449,,,10252,Primary Sjögren disease,Adult,Not applicable
289385,Malignancy diagnosed during pregnancy,Particular clinical situation in a disease or syndrome,Disorder,JB64.Y,0017330,O99.8,,C5679948,,,,Malignancy diagnosed during pregnancy,Adult,
289483,Intellectual disability-alacrima-achalasia syndrome,Disease,Disorder,,0010460,H04.8,300858,C4706563,,,,Intellectual disability-alacrima-achalasia syndrome,"Infancy, Neonatal",X-linked recessive
289478,PASH syndrome,Disease,Disorder,,0017332,D89.8,,C5191642,,10084535,,PASH syndrome,Adult,No data available
289103,Hypocalcemic rickets,Clinical group,Group of disorders,,0017323,,,C4302195,,,,,,
289098,Disorders of vitamin D metabolism,Category,Group of disorders,,0017322,,,C5681017,,,,,,
289176,Autosomal recessive hypophosphatemic rickets,Disease,Disorder,5C63.22,0017324,E83.3,613312,C0342643,,10077943,,Autosomal recessive hypophosphatemic rickets,"Childhood, Infancy",Autosomal recessive
289157,Hypocalcemic vitamin D-dependent rickets,Disease,Disorder,5C63.20,0009924,E55.0,600081,C0268689,,,,Hypocalcemic vitamin D-dependent rickets,"Infancy, Neonatal",Autosomal recessive
280926,Systemic diseases with anterior uveitis,Category,Group of disorders,,,,,C5681018,,,,Systemic diseases with anterior uveitis,"Adolescent, Adult, Childhood, Elderly",
280921,Idiopathic panuveitis,Disease,Disorder,9C20.0,0017258,H44.1,,C4707884,,,,Idiopathic panuveitis,"Adolescent, Adult, Childhood, Elderly",Not applicable
280917,Idiopathic posterior uveitis,Disease,Disorder,9B65.0,0017257,H30.9,,C4751435,,,,,,
280914,Isolated idiopathic anterior uveitis,Disease,Disorder,9A96.3,,,,,,,,,,
280898,Panuveitis,Category,Group of disorders,9C20,0017255,,,C0030343,D015864,10033687,8577,Panuveitis,All ages,Not applicable
280892,Posterior uveitis,Category,Group of disorders,,0001280,,,C0042167,D015866,10036370,4457,Posterior uveitis,All ages,Not applicable
280886,Anterior uveitis,Category,Group of disorders,9A96,0006651,,,C0042165,D014606,10002709,10941,Anterior uveitis,All ages,Not applicable
281103,Keratinopathic ichthyosis,Clinical group,Group of disorders,EC20.03,0017266,,,C4511307,,,,,,
281097,Autosomal recessive congenital ichthyosis,Clinical group,Group of disorders,EC20.02,0017265,,,C1274215,,,,Autosomal recessive congenital ichthyosis,"Infancy, Neonatal",Autosomal recessive
281090,Syndromic recessive X-linked ichthyosis,Disease,Disorder,,0017264,Q80.1,308100,C4274085,,,,Syndromic recessive X-linked ichthyosis,Childhood,X-linked recessive
281085,Inherited ichthyosis syndromic form,Category,Group of disorders,LD27.2,,,,C5681019,,,,,,
281082,Inherited non-syndromic ichthyosis,Category,Group of disorders,EC20.0,,,,C5681020,,,,,,
280933,Systemic diseases with panuveitis,Category,Group of disorders,,,,,C5681021,,,,,,
280930,Systemic diseases with posterior uveitis,Category,Group of disorders,,,,,C5681022,,,,,,
281210,X-linked ichthyosis syndrome,Clinical group,Group of disorders,LD27.2,0017269,Q80.1,,C0079588,,10048063,,X-linked ichthyosis syndrome,,"Not applicable, X-linked dominant, X-linked recessive"
281217,Autosomal ichthyosis syndrome,Category,Group of disorders,,,,,C5681023,,,,,,
281190,Congenital reticular ichthyosiform erythroderma,Disease,Disorder,EC20.0Y,0012208,Q80.8,609165,C3665704,,,,Congenital reticular ichthyosiform erythroderma,Neonatal,Autosomal dominant
281201,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,Disease,Disorder,EC20.0Y,0011169,Q82.8,601952,C1866029,C566600,,,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,"Infancy, Neonatal",Autosomal recessive
281139,Annular epidermolytic ichthyosis,Disease,Disorder,EC20.03,0011870,Q80.3,607602,C1843463,,,,Annular epidermolytic ichthyosis,"Infancy, Neonatal",Autosomal dominant
281122,Self-improving collodion baby,Disease,Disorder,EC20.02,0017267,Q80.2,606545,C1855789,C565473,,,Self-improving collodion baby,Neonatal,Autosomal recessive
281127,Acral self-healing collodion baby,Disease,Disorder,EC20.02,0017268,Q80.2,242300,C4305324,,,,Acral self-healing collodion baby,"Infancy, Neonatal","Autosomal recessive, Unknown"
281244,Autosomal ichthyosis syndrome with other associated signs,Category,Group of disorders,,,,,C5681024,,,,,,
281238,Autosomal ichthyosis syndrome with prominent neurologic signs,Category,Group of disorders,,,,,C5681025,,,,,,
281241,Autosomal ichthyosis syndrome with fatal disease course,Category,Group of disorders,,,,,C5681026,,,,,,
281222,Autosomal ichthyosis syndrome with prominent hair abnormalities,Category,Group of disorders,,,,,C5681027,,,,,,
281234,OBSOLETE: Congenital ichthyosis with trichothiodystrophy,Category,Group of disorders,,,,,,,,,,,
280628,Familial progressive hyper- and hypopigmentation,Disease,Disorder,EC23.Y,0017239,L81.8,145250,C4706423,,,,Familial progressive hyper- and hypopigmentation,"Infancy, Neonatal",Autosomal dominant
280633,Multiple congenital anomalies-hypotonia-seizures syndrome,Malformation syndrome,Disorder,,0013563,Q87.8,614080,C5191419,,,12781,Multiple congenital anomalies-hypotonia-seizures syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
280615,Low oxygen affinity gamma chain hemoglobin disease,Etiological subtype,Subtype of disorder,3A50.4,0017238,D58.2,613977,C5190689,,,,Low oxygen affinity gamma chain hemoglobin disease,"Infancy, Neonatal",Autosomal dominant
280598,Hereditary sensorimotor neuropathy with hyperelastic skin,Disease,Disorder,8C20.0,0017237,G60.0,608895,C5190690,,,11010,Hereditary sensorimotor neuropathy with hyperelastic skin,All ages,Autosomal dominant
280620,Progressive myoclonic epilepsy type 6,Disease,Disorder,8A61.41,0013526,G40.3,614018,C5190805,,,3872,Progressive myoclonic epilepsy type 6,Childhood,Autosomal recessive
280663,Hermansky-Pudlak syndrome type 9,Clinical subtype,Subtype of disorder,,,,614171,,,,,,,
280671,Megaconial congenital muscular dystrophy,Disease,Disorder,8C70.6,0011246,G71.2,602541,C1865233,C566527,,10317,Megaconial congenital muscular dystrophy,"Infancy, Neonatal",Autosomal recessive
280640,Occipital pachygyria and polymicrogyria,Malformation syndrome,Disorder,,0013583,Q04.3,614115,C5190688,,,,Occipital pachygyria and polymicrogyria,"Infancy, Neonatal",Autosomal recessive
280654,Autosomal recessive nail dysplasia,Disease,Disorder,,0029051,Q84.6,161050,C5190687,,,,Autosomal recessive nail dysplasia,"Childhood, Infancy",Autosomal recessive
280651,OBSOLETE: Acrodysostosis with multiple hormone resistance,Disease,Disorder,,,,,,,,,,,
280779,Cutaneous collagenous vasculopathy,Disease,Disorder,EF20.Y,0017242,L98.8,,C4305323,,,12428,Cutaneous collagenous vasculopathy,Adult,Not applicable
280785,Bullous diffuse cutaneous mastocytosis,Clinical subtype,Subtype of disorder,2A21.1Y,0017243,Q82.2,,C5546764,,,,Bullous diffuse cutaneous mastocytosis,"Infancy, Neonatal",Not applicable
280794,Pseudoxanthomatous diffuse cutaneous mastocytosis,Clinical subtype,Subtype of disorder,2A21.1Y,0017244,Q82.2,,C5679949,,,,Pseudoxanthomatous diffuse cutaneous mastocytosis,"Infancy, Neonatal",Not applicable
280802,Intralobar congenital pulmonary sequestration,Clinical subtype,Subtype of disorder,LA75.6,0017245,Q33.2,,C5679950,,,,,,
280679,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,Disease,Disorder,LD2F.Y,0010448,Q87.8,300845,C4518329,,,,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,All ages,X-linked recessive
280763,Severe intellectual disability and progressive spastic paraplegia,Disease,Disorder,,,G11.4,614066,C4755264,,,10999,Severe intellectual disability and progressive spastic paraplegia,"Infancy, Neonatal",Autosomal recessive
280774,Generalized essential telangiectasia,Disease,Disorder,EF20.4,0008534,L98.8,,C0473555,C562998,,,Generalized essential telangiectasia,"Adolescent, Adult",Not applicable
280840,Congenital pulmonary airway malformation type 2,Clinical subtype,Subtype of disorder,LA75.4,0017250,Q33.0,,C5437761,,,,Congenital pulmonary airway malformation type 2,"Antenatal, Neonatal",
280847,Congenital pulmonary airway malformation type 3,Clinical subtype,Subtype of disorder,LA75.4,0017251,Q33.0,,C5437762,,,,Congenital pulmonary airway malformation type 3,"Antenatal, Neonatal",
280854,Congenital pulmonary airway malformation type 4,Clinical subtype,Subtype of disorder,LA75.4,0017252,Q33.0,,C5437760,,,,Congenital pulmonary airway malformation type 4,"Antenatal, Neonatal",
280811,Extralobar congenital pulmonary sequestration,Clinical subtype,Subtype of disorder,LA75.6,0017246,Q33.2,,C5679951,,,,,,
280821,Communicating congenital bronchopulmonary-foregut malformation,Clinical subtype,Subtype of disorder,,0017247,Q33.2,,C0265790,,,,,,
280827,Congenital pulmonary airway malformation type 0,Clinical subtype,Subtype of disorder,LA75.4,0017248,Q33.0,,C5437764,,,,Congenital pulmonary airway malformation type 0,"Antenatal, Neonatal",
280832,Congenital pulmonary airway malformation type 1,Clinical subtype,Subtype of disorder,LA75.4,0017249,Q33.0,,C5437763,,,,Congenital pulmonary airway malformation type 1,"Antenatal, Neonatal",
284149,Craniosynostosis-dental anomalies,Malformation syndrome,Disorder,,0013615,Q87.0,614188,C3280073,,,,Craniosynostosis-dental anomalies,"Infancy, Neonatal",Autosomal recessive
284139,"Larsen-like syndrome, B3GAT3 type",Malformation syndrome,Disorder,LD24.E,0009511,Q74.8,245600,C4706575,,,,"Larsen-like syndrome, B3GAT3 type","Infancy, Neonatal",Autosomal recessive
284180,Xp22.13p22.2 duplication syndrome,Malformation syndrome,Disorder,LD51,0017284,Q99.8,,C5190686,,,,Xp22.13p22.2 duplication syndrome,"Infancy, Neonatal",X-linked recessive
284169,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,Clinical subtype,Subtype of disorder,LD44.A1,0017283,Q87.8,616708,C5190804,,,,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,Infancy,"Not applicable, Unknown"
284160,8q21.11 microdeletion syndrome,Malformation syndrome,Disorder,LD44.80,0013646,Q93.5,614230,C4305343,,,,8q21.11 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
284247,Familial retinal arterial macroaneurysm,Malformation syndrome,Disorder,9B7Y,0013640,H35.0,614224,C3280205,,,12779,Familial retinal arterial macroaneurysm,Childhood,Autosomal recessive
284232,Autosomal dominant Charcot-Marie-Tooth disease type 2O,Disease,Disorder,8C20.1,0013644,G60.0,614228,C3280220,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2O,Childhood,Autosomal dominant
284227,TEMPI syndrome,Clinical syndrome,Disorder,2A83.Y,0017286,D47.2,,C3854394,,10075076,10962,TEMPI syndrome,Adult,
284271,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,Disease,Disorder,,0013645,G11.1,614229,C5190803,,,,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,Childhood,Autosomal recessive
284264,IgG4-related disease,Clinical group,Group of disorders,4A43.0,,,,C3203653,D000077733,10071569,12521,IgG4-related disease,Adult,Not applicable
284324,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,Disease,Disorder,,0012235,G11.1,609270,C1836474,C563753,,12232,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,Childhood,Autosomal recessive
284282,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,Disease,Disorder,,0013687,G11.1,614322,C3280452,,,,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,"Infancy, Neonatal",Autosomal recessive
284289,Adult-onset autosomal recessive cerebellar ataxia,Disease,Disorder,,0013392,G11.2,613728,C3150998,,,,Adult-onset autosomal recessive cerebellar ataxia,Adult,Autosomal recessive
284343,DICER1 tumor-predisposition syndrome,Disease,Disorder,,0100216,C34.8,601200,C3839822,,,10734,DICER1 tumor-predisposition syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
284332,Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,Disease,Disorder,,0011950,G11.0,608029,C1842676,C537312,,4954,Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,"Infancy, Neonatal",Autosomal recessive
284339,Pontocerebellar hypoplasia type 7,Malformation syndrome,Disorder,,0013993,Q04.3,614969,C3554226,,,,Pontocerebellar hypoplasia type 7,"Infancy, Neonatal",Autosomal recessive
284385,Familial intrahepatic cholestasis,Category,Group of disorders,,0017290,,,,,,,,,
284388,Reversible cerebral vasoconstriction syndrome,Clinical syndrome,Disorder,8B22.2,0017291,I67.8,,C3544214,,10073240,12768,Reversible cerebral vasoconstriction syndrome,Adult,Not applicable
284362,Fetal lung interstitial tumor,Clinical subtype,Subtype of disorder,LA75.Y,0017289,D14.3,,C5679952,,,,Fetal lung interstitial tumor,"Infancy, Neonatal",
284408,"OBSOLETE: Glycerol kinase deficiency, infantile form",Clinical subtype,Subtype of disorder,,,,,,,,,,,
284411,"Glycerol kinase deficiency, juvenile form",Clinical subtype,Subtype of disorder,5C51.1,0017295,E74.8,307030,C5681029,,,,"Glycerol kinase deficiency, juvenile form","Adolescent, Childhood",X-linked recessive
284395,Well-differentiated fetal adenocarcinoma of the lung,Disease,Disorder,2C25.0,0017292,C34.8,,C3873372,,,,Well-differentiated fetal adenocarcinoma of the lung,All ages,Not applicable
284400,Small cell carcinoma of the bladder,Disease,Disorder,2C13.Y,4114,C67.0,,C1332564,,,11923,Small cell carcinoma of the bladder,Adult,Not applicable
282124,Partial deletion of chromosome 12 syndrome,Category,Group of disorders,,0017277,,,C5680422,,,,,,
282196,Autoimmune polyendocrinopathy,Clinical group,Group of disorders,5B00,0017278,E31.0,,C0085409,D016884,,,,,
282166,Inherited Creutzfeldt-Jakob disease,Disease,Disorder,8E02.0,0007403,A81.0,123400,C0751254,,,,Inherited Creutzfeldt-Jakob disease,"Adult, Elderly",Autosomal dominant
284130,NON RARE IN EUROPE: Rheumatoid arthritis,Disease,Disorder,,,,,,,,,,,
309848,Disorder of magnesium transport,Category,Group of disorders,,0017765,E83.4,,C5681030,,,,,,
309845,Disorder of zinc metabolism and transport,Category,Group of disorders,,0017764,E83.2,,C0268085,,10086140,,,,
309842,Disorder of iron metabolism and transport,Category,Group of disorders,,0017763,E83.1,,C5681031,,,,,,
309839,Disorder of copper metabolism,Category,Group of disorders,5C64.0,0017762,E83.0,,C0012714,,10061091,,,,
310050,Acquired immunodeficiency,Category,Group of disorders,4A20,0017769,,,C0001175,D000163,10000565,,,,
309854,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,Disease,Disorder,,0013208,E88.8,613280,C2750442,C548016,,10706,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,Childhood,Autosomal recessive
309851,Disorder of manganese transport,Category,Group of disorders,,0017766,,,C5681032,,,,,,
309824,Disorder of metabolite absorption and transport,Category,Group of disorders,,0017757,,,C5681033,,,,,,
309819,Disorder of pterin metabolism,Category,Group of disorders,5C59.01,,,,C5681034,,,,,,
309816,Disorder of bilirubin metabolism and excretion,Category,Group of disorders,5C58.0,0017755,,,C0349427,,,,,,
309813,Disorder of porphyrin and heme metabolism,Category,Group of disorders,,0017754,,,,,,,,,
309836,Disorder of mineral absorption and transport,Category,Group of disorders,5C64,0017761,,,C5681035,,,,,,
309833,Disorder of other vitamins and cofactors metabolism and transport,Category,Group of disorders,,,,,C5681036,,,,,,
309830,Disorder of catecholamine synthesis,Category,Group of disorders,5C59.00,0017759,,,C0342685,,,,,,
309827,Disorder of vitamin and non-protein cofactor absorption and transport,Category,Group of disorders,5C63,0017758,,,C5681037,,,,,,
309568,Defect in conserved oligomeric Golgi complex,Category,Group of disorders,,0017750,,,C5679953,,,,,,
309778,Defect in V-ATPase,Category,Group of disorders,,0017752,,,C5681038,,,,,,
309515,Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation,Category,Group of disorders,,0017748,,,C5679954,,,,,,
309526,Disorder of multiple glycosylation,Category,Group of disorders,5C54.2,0017749,,,C5681039,,,,,,
309803,Rhizomelic chondrodysplasia punctata type 3,Etiological subtype,Subtype of disorder,LD24.04,0010823,Q77.3,600121,C1838612,C537608,,,Rhizomelic chondrodysplasia punctata type 3,,Autosomal recessive
309810,"Disorder of peroxisomal alpha-, beta- and omega-oxidation",Category,Group of disorders,5C57.1,,,,C5681040,,,12476,,,
309789,Rhizomelic chondrodysplasia punctata type 1,Etiological subtype,Subtype of disorder,LD24.04,0008972,Q77.3,215100,C1859133,C531651,,6049,Rhizomelic chondrodysplasia punctata type 1,,Autosomal recessive
309796,Rhizomelic chondrodysplasia punctata type 2,Etiological subtype,Subtype of disorder,LD24.04,0009112,Q77.3,222765,C1857242,C537607,,,Rhizomelic chondrodysplasia punctata type 2,,Autosomal recessive
309447,Disorder of protein O-glycosylation,Category,Group of disorders,5C54.1,0017741,,,C5681041,,,,,,
309450,Disorder of O-xylosylglycan synthesis,Category,Group of disorders,,,,,C5681042,,,,,,
309340,Disorder of lysosomal-related organelles,Category,Group of disorders,,0017739,,,C5681043,,,,,,
309347,Disorder of protein N-glycosylation,Category,Group of disorders,5C54.0,0017740,,,C5681044,,,,,,
309469,Disorder of O-mannosylglycan synthesis,Category,Group of disorders,,,,,C5681045,,,,,,
309505,Disorder of fucoglycosan synthesis,Category,Group of disorders,,0017747,,,C5681046,,,,,,
309458,Disorder of O-N-acetylgalactosaminylglycan synthesis,Category,Group of disorders,,,,,C5681047,,,,,,
309463,Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis,Category,Group of disorders,,,,,C5681048,,,,,,
314029,High bone mass osteogenesis imperfecta,Disease,Disorder,LD24.1Y,0017791,Q78.0,,C5190607,,,,High bone mass osteogenesis imperfecta,Childhood,Autosomal dominant
314022,Gastric adenocarcinoma and proximal polyposis of the stomach,Disease,Disorder,2B72.0,0017790,C16.9,619182,C1868001,,,,Gastric adenocarcinoma and proximal polyposis of the stomach,Adult,Autosomal dominant
314017,Idiopathic linear interstitial keratitis,Disease,Disorder,9A7Y,0017789,H16.3,,C4751438,,,,Idiopathic linear interstitial keratitis,Adult,Unknown
314002,Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,Malformation syndrome,Disorder,,0017788,Q87.8,,C4751075,,,,Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,"Infancy, Neonatal",No data available
313947,2q23.1 microduplication syndrome,Malformation syndrome,Disorder,,0017786,Q92.3,156200,C4707847,,,,2q23.1 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
313936,PENS syndrome,Disease,Disorder,,0017785,Q82.5,,C4749916,,,13447,PENS syndrome,"Infancy, Neonatal",Not applicable
313920,Epstein-Barr virus-associated gastric carcinoma,Disease,Disorder,2B72.Y,0017784,C16.0,,C4274414,,,,Epstein-Barr virus-associated gastric carcinoma,"Adult, Elderly",Multigenic/multifactorial
313906,Congenital pancreatic cyst,Morphological anomaly,Disorder,LB21.Y,0017783,Q45.2,,C0341480,,,,Congenital pancreatic cyst,"Infancy, Neonatal",Unknown
313892,Developmental and speech delay due to SOX5 deficiency,Clinical subtype,Subtype of disorder,,0017782,Q87.8,616803,C4749915,,,,Developmental and speech delay due to SOX5 deficiency,"Infancy, Neonatal","Autosomal dominant, Not applicable"
313884,12p12.1 microdeletion syndrome,Clinical subtype,Subtype of disorder,,0017781,Q93.5,616803,C4755260,,,,12p12.1 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
313855,FGFR2-related bent bone dysplasia,Disease,Disorder,LD24.C,0013815,M85.8,614592,C4755261,,,10965,FGFR2-related bent bone dysplasia,"Antenatal, Neonatal",Autosomal dominant
313850,Infantile cerebellar-retinal degeneration,Disease,Disorder,,0013802,E88.8,614559,C3281192,,,13264,Infantile cerebellar-retinal degeneration,"Infancy, Neonatal",Autosomal recessive
313846,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,Disease,Disorder,,0013806,C10.9,614564,C5190630,,,,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,"Infancy, Neonatal",Autosomal dominant
313838,Coats plus syndrome,Disease,Disorder,,0012815,H35.0,612199,C2677299,C567401,,,Coats plus syndrome,Childhood,Autosomal recessive
313800,Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,Disease,Disorder,9B70,0013999,H35.8,614979,C4749914,,,,Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,Childhood,Autosomal dominant
313808,Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,Disease,Disorder,,0800027,G93.4,221820,C3711381,C580150,,10981,Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,Adult,Autosomal dominant
313781,20p13 microdeletion syndrome,Malformation syndrome,Disorder,,0017780,Q93.5,,C4750789,,,,20p13 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
313795,Jawad syndrome,Malformation syndrome,Disorder,,0009622,Q87.8,251255,C0796063,C567101,,,Jawad syndrome,"Infancy, Neonatal",Autosomal recessive
313772,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,Disease,Disorder,,0013776,G11.4,614487,C3280977,,,,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,Childhood,Autosomal recessive
314603,Autosomal recessive spastic ataxia with leukoencephalopathy,Disease,Disorder,,0012664,E88.8,611390,C1969645,C566956,,,Autosomal recessive spastic ataxia with leukoencephalopathy,"Adolescent, Adult, Childhood",Autosomal recessive
314597,Chudley-McCullough syndrome,Malformation syndrome,Disorder,,0011411,Q04.8,604213,C1858695,C535459,,86,Chudley-McCullough syndrome,"Infancy, Neonatal",Autosomal recessive
314613,Growing teratoma syndrome,Particular clinical situation in a disease or syndrome,Disorder,,0017807,D48.7,,C3891714,,10085759,,Growing teratoma syndrome,Adult,Not applicable
314575,Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,Malformation syndrome,Disorder,,0017805,Q87.8,,C4751073,,,,Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,"Infancy, Neonatal",Autosomal recessive
314572,Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,Disease,Disorder,,0017804,I67.8,,C4749919,,,,Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,"Infancy, Neonatal",Autosomal recessive
314588,Distal triplication 15q syndrome,Etiological subtype,Subtype of disorder,,0013918,Q99.8,614846,C3553858,,,,Distal triplication 15q syndrome,"Infancy, Neonatal","Not applicable, Unknown"
314585,15q overgrowth syndrome,Malformation syndrome,Disorder,LD2C,0017806,Q87.3,614846,C4749920,,,,15q overgrowth syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
314485,Young adult-onset distal hereditary motor neuropathy,Disease,Disorder,,,G12.2,614881,C4749918,,,,Young adult-onset distal hereditary motor neuropathy,Adult,Autosomal recessive
314566,Primary progressive apraxia of speech,Disease,Disorder,,0017803,G31.8,,C5848171,,,,Primary progressive apraxia of speech,Adult,Unknown
314555,Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,Malformation syndrome,Disorder,,12634,Q87.5,611174,C1970027,C566988,,,Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,"Infancy, Neonatal",Autosomal recessive
314466,Atypical Meigs syndrome,Clinical syndrome,Disorder,,0017801,D27,,C5190605,,,,Atypical Meigs syndrome,Adult,Not applicable
314459,Pseudo-Meigs syndrome,Clinical syndrome,Disorder,,0017800,D39.1,,C5190824,,,,Pseudo-Meigs syndrome,Adult,Not applicable
314478,Ovarian fibrothecoma,Disease,Disorder,2F32.Y,0017802,D27,,C4707356,,,,Ovarian fibrothecoma,Adult,Not applicable
314473,Ovarian fibroma,Disease,Disorder,2F32.1,0008168,D27,,C0149951,C562391,10064257,,Ovarian fibroma,Adult,Not applicable
314422,Ameloblastic carcinoma,Disease,Disorder,2B5J,0006079,C41.1,,C1314678,,10083863,11855,Ameloblastic carcinoma,All ages,Not applicable
314425,Rare odontogenic tumor,Category,Group of disorders,,,,,C5681049,,,,,,
314432,Spigelian hernia-cryptorchidism syndrome,Malformation syndrome,Disorder,,0017798,K43.6,,C4751074,,,,Spigelian hernia-cryptorchidism syndrome,"Infancy, Neonatal",Not applicable
314451,Meigs syndrome,Clinical syndrome,Disorder,2F32.2,0017799,D27,,C0025184,D008539,10027139,,Meigs syndrome,Adult,Not applicable
314394,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,Disease,Disorder,LD24.Y,0013894,Q87.1,614813,C3542022,,,,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,"Infancy, Neonatal",Autosomal recessive
314399,Autosomal dominant aplasia and myelodysplasia,Disease,Disorder,3A70.0,0013851,D61.0,614675,C4755259,,,,Autosomal dominant aplasia and myelodysplasia,Childhood,Autosomal dominant
314404,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,Disease,Disorder,,0011397,G11.2,604121,C4302668,,,12372,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,Adult,"Autosomal dominant, Not applicable"
314419,Ameloblastoma,Disease,Disorder,2E83.1,0017795,D16.4,,C0002448,D000564,10066796,5747,Ameloblastoma,All ages,Not applicable
314373,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,Disease,Disorder,DA90.Y,0013825,P78.3,614616,C5191644,,,,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,"Infancy, Neonatal",Autosomal dominant
314376,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,Disease,Disorder,KB87.Y,0013843,P76.0,614665,C4518781,,,,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,Neonatal,Autosomal recessive
314381,Hereditary sensory and autonomic neuropathy type 6,Disease,Disorder,,0013839,G60.8,614653,C3539003,,,,Hereditary sensory and autonomic neuropathy type 6,"Infancy, Neonatal",Autosomal recessive
314389,Xq12-q13.3 duplication syndrome,Malformation syndrome,Disorder,,0017794,Q99.8,,C4707094,,,,Xq12-q13.3 duplication syndrome,"Infancy, Neonatal",X-linked recessive
314034,7p22.1 microduplication syndrome,Malformation syndrome,Disorder,,0017792,Q92.3,,C4707093,,,,7p22.1 microduplication syndrome,"Infancy, Neonatal",Autosomal recessive
314041,Marfanoid habitus-inguinal hernia-advanced bone age syndrome,Malformation syndrome,Disorder,,0017793,Q87.8,,C5190606,,,,Marfanoid habitus-inguinal hernia-advanced bone age syndrome,"Antenatal, Infancy, Neonatal",
314051,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,Disease,Disorder,,0013971,E88.8,614924,C4706421,,,12893,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,"Infancy, Neonatal",No data available
306756,Epilepsy and/or ataxia with myoclonus as a major feature,Category,Group of disorders,,,,,C5681050,,,,,,
306759,Non progressive epilepsy and/or ataxia with myoclonus as a major feature,Category,Group of disorders,,,,,C5681051,,,,,,
306750,Primary myoclonus,Category,Group of disorders,,,,,C5681052,,,,,,
306753,Rare disease with myoclonus as a major feature,Category,Group of disorders,,,,,C5681053,,,,,,
306768,Rare paroxysmal movement disorder,Category,Group of disorders,,,,,C5681054,,,,,,
306773,Hyperekplexia,Clinical group,Group of disorders,,0017658,,,,D000071017,10058271,,,,
306762,OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature,Category,Group of disorders,,,,,,,,,,,
306765,Motor stereotypies,Category,Group of disorders,,,,,,D013239,,,,,
307055,Rare parkinsonian syndrome due to genetic neurodegenerative disease,Category,Group of disorders,,,,,C5681055,,,,,,
307058,Miscellaneous movement disorder due to genetic neurodegenerative disease,Category,Group of disorders,,,,,C5681056,,,,,,
306776,Sporadic hyperekplexia,Disease,Disorder,,0017659,G25.8,,C5191042,,,,,,
307052,Rare genetic parkinsonian disorder,Category,Group of disorders,,,,,C5679955,,,,,,
307067,Rare genetic disease with myoclonus as a major feature,Category,Group of disorders,,,,,C5681057,,,,,,
307141,Diffuse palmoplantar keratoderma,Category,Group of disorders,EC20.30,0017666,,,C0022584,D015776,,,,,
307061,Rare genetic tremor disorder,Category,Group of disorders,,,,,C5681058,,,,,,
307064,Rare genetic myoclonus,Category,Group of disorders,,,,,C5681059,,,,,,
306682,Manganese poisoning,Disease,Disorder,NE61,0017638,T57.2,,C0677050,D020149,10058951,,Manganese poisoning,All ages,
306679,Rare parkinsonian syndrome due to intoxication,Category,Group of disorders,,,,,C5681060,,,,,,
306674,Kufor-Rakeb syndrome,Disease,Disorder,,0011706,G23.0,606693,C1847640,C537177,,9174,Kufor-Rakeb syndrome,"Adolescent, Childhood",Autosomal recessive
306669,Hemiparkinsonism-hemiatrophy syndrome,Disease,Disorder,8A00.21,0017636,G20,,C4545231,,,,Hemiparkinsonism-hemiatrophy syndrome,"Adolescent, Adult",
306708,Frontotemporal neurodegeneration with movement disorder,Category,Group of disorders,,,,,C5681061,,,,,,
306695,Miscellaneous movement disorder due to neurodegenerative disease,Category,Group of disorders,,,,,C5681062,,,,,,
306692,Cyanide-induced parkinsonism-dystonia,Disease,Disorder,8A00.2Y,0017640,G21.2,,C4707859,,,,Cyanide-induced parkinsonism-dystonia,All ages,
306686,Delayed encephalopathy due to carbon monoxide poisoning,Disease,Disorder,8D43.0Y,,G21.2,,C0393565,,,,Delayed encephalopathy due to carbon monoxide poisoning,All ages,
306727,Postinfectious autoimmune disease with chorea,Category,Group of disorders,,,,,C5681063,,,,,,
306719,Neurodegenerative disease with chorea,Category,Group of disorders,,,,,C5681064,,,,,,
306715,Rare choreic movement disorder,Category,Group of disorders,,,,,C5681065,,,,,,
306712,Rare tremor disorder,Category,Group of disorders,,,,,C5681066,,,,,,
306747,Rare myoclonus,Category,Group of disorders,,,,,C5681067,,,,,,
306741,Hemidystonia-hemiatrophy syndrome,Disease,Disorder,,0017649,G24.8,,C4510649,,,,Hemidystonia-hemiatrophy syndrome,"Adolescent, Adult, Childhood, Infancy, Neonatal",Not applicable
306734,"Primary dystonia, DYT21 type",Disease,Disorder,,0013813,G24.1,614588,C3281236,,,,"Primary dystonia, DYT21 type",Adult,Autosomal dominant
306731,Sydenham chorea,Particular clinical situation in a disease or syndrome,Disorder,1B42,0017648,I02.9,,C0152113,,10042732,7716,Sydenham chorea,"Adolescent, Adult, Childhood",
308166,Erythrokeratoderma variabilis progressiva,Clinical group,Group of disorders,,0017681,,,C5681068,,,10923,Erythrokeratoderma variabilis progressiva,"Childhood, Infancy, Neonatal",
308380,Methylcobalamin deficiency type cblDv1,Clinical subtype,Subtype of disorder,5C50.B,0017683,E72.1,277410,C5679956,,,,Methylcobalamin deficiency type cblDv1,,Autosomal recessive
308386,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,Etiological subtype,Subtype of disorder,5C50.B,0009643,E72.1,252150,C5679957,,,,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,,Autosomal recessive
308393,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,Etiological subtype,Subtype of disorder,5C50.B,0009644,E72.1,252160,C1854989,C565373,,,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,,Autosomal recessive
308400,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,Etiological subtype,Subtype of disorder,5C50.B,0014212,E72.1,615501,C1854990,C565374,,,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,,Autosomal recessive
308407,Disorder of beta and omega amino acid metabolism,Category,Group of disorders,5C50.C,0017684,,,C0342707,,,,,,
308410,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,Disease,Disorder,,0013970,E71.1,614923,C4749908,,,,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,Childhood,Autosomal recessive
308425,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,Disease,Disorder,5C50.E0,0009615,E71.1,251120,C4707328,,,,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,"Childhood, Infancy",Autosomal recessive
307711,Disease with diffuse palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5679958,,,,,,
307148,Isolated diffuse palmoplantar keratoderma,Clinical group,Group of disorders,,,,,C5679959,,,,,,
307766,Curly hair-acral keratoderma-caries syndrome,Disease,Disorder,EC20.30,0011883,Q82.8,607656,C1843291,C536220,,10163,Curly hair-acral keratoderma-caries syndrome,"Adolescent, Childhood",
307804,Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5679960,,,,Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature,,Autosomal recessive
307773,Autosomal dominant diffuse mutilating palmoplantar keratoderma,Clinical group,Group of disorders,,,,,C5679961,,,,Autosomal dominant diffuse mutilating palmoplantar keratoderma,,Autosomal dominant
307846,Isolated focal palmoplantar keratoderma,Clinical group,Group of disorders,,,,,C5679962,,,,,,
307837,Focal palmoplantar keratoderma,Category,Group of disorders,EC20.31,0017672,,,,,,,,,
307936,Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,Disease,Disorder,EC20.31,0011884,Q82.8,607658,C1843285,C564357,,,Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,"Infancy, Neonatal",
307871,Disease with focal palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5679963,,,,,,
307995,Marginal papular palmoplantar keratoderma,Clinical group,Group of disorders,,,,,C5679964,,,,Marginal papular palmoplantar keratoderma,,Autosomal dominant
307967,Punctate palmoplantar keratoderma,Category,Group of disorders,,0017675,,,C1274216,,,,,,
308023,Disease with punctate palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5679965,,,,,,
308013,Focal acral hyperkeratosis,Disease,Disorder,,0017677,Q82.8,,C1302839,,,,,,
308041,Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5679966,,,,Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature,,Autosomal recessive
308031,Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5679967,,,,Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature,,Autosomal dominant
309001,Disorder of carbohydrate absorption and transport,Category,Group of disorders,5C61,0017706,,,C5681069,,,,,,
309005,Disorder of lipid metabolism,Category,Group of disorders,,,,,C0154251,D052439,10061227,,,,
308993,Glycerol kinase deficiency,Clinical group,Group of disorders,,,,,C0268418,,,,,,
308998,Disorder of glyoxylate metabolism,Category,Group of disorders,5C51.2,0017703,,,C5681070,,,,,,
308698,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form",Clinical subtype,Subtype of disorder,5C51.3,0017700,E74.0,232500,C1856305,C565543,,,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form",,Autosomal recessive
308712,"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form",Clinical subtype,Subtype of disorder,5C51.3,0017701,E74.0,232500,C5679968,,,,"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form",,Autosomal recessive
308670,"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form",Clinical subtype,Subtype of disorder,5C51.3,0017698,E74.0,232500,C1856304,C565542,,,"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form",,Autosomal recessive
308684,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form",Clinical subtype,Subtype of disorder,5C51.3,0017699,E74.0,232500,C5679969,,,,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form",,Autosomal recessive
309111,Combined pancreatic lipase-colipase deficiency,Disease,Disorder,5C62,0017712,K90.3,614338,C4706317,,,,Combined pancreatic lipase-colipase deficiency,Neonatal,
309115,Disorder of fatty acid oxidation and ketogenesis,Category,Group of disorders,5C52.01,0017713,,,C5681071,,,,,,
309031,Pancreatic triacylglycerol lipase deficiency,Disease,Disorder,5C62,0013700,K90.3,614338,C0268240,,,,Pancreatic triacylglycerol lipase deficiency,Infancy,Not applicable
309108,Pancreatic colipase deficiency,Disease,Disorder,5C62,0017711,K90.3,614338,C0268241,,,,Pancreatic colipase deficiency,Infancy,Autosomal recessive
309025,Mevalonate kinase deficiency,Disease,Disorder,5C52.10,0017708,E88.8,260920,C0342731,D054078,10072221,,Mevalonate kinase deficiency,Infancy,Not applicable
309028,Disorder of lipid absorption and transport,Category,Group of disorders,5C62,,,,C5681072,,,,,,
309015,Familial lipoprotein lipase deficiency,Etiological subtype,Subtype of disorder,5C80.1,0009387,E78.3,238600,,,,12241,Familial lipoprotein lipase deficiency,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
309020,Familial apolipoprotein C-II deficiency,Etiological subtype,Subtype of disorder,5C80.1,0008810,E78.3,207750,C0268199,,,759,Familial apolipoprotein C-II deficiency,"Adolescent, Childhood",Autosomal recessive
308487,Generalized galactose epimerase deficiency,Clinical subtype,Subtype of disorder,5C51.4Y,0017692,E74.2,230350,C0574089,,,,Generalized galactose epimerase deficiency,,Autosomal recessive
178,Chordoma,Disease,Disorder,2B5J,0008978,C76.7,215400,C0008487,D002817,10008747,1303,Chordoma,Adult,"Autosomal dominant, Not applicable"
308473,Erythrocyte galactose epimerase deficiency,Clinical subtype,Subtype of disorder,5C51.4Y,0017691,E74.2,230350,C0574090,,,,Erythrocyte galactose epimerase deficiency,,Autosomal recessive
308467,Disorder of galactose metabolism,Category,Group of disorders,5C51.4,0017690,E74.2,,C0342745,,,,,,
2637,Microcephalic osteodysplastic primordial dwarfism type II,Malformation syndrome,Disorder,LD20.2,0008872,Q87.1,210720,C0432246,C565898,,9844,Microcephalic osteodysplastic primordial dwarfism type II,"Antenatal, Infancy, Neonatal",Autosomal recessive
308463,Disorder of fructose metabolism,Category,Group of disorders,5C51.5,0017689,E74.1,,C0342744,,,,,,
592,Macrophagic myofasciitis,Disease,Disorder,,0018942,M60.8,,C2931639,C537829,,176,Macrophagic myofasciitis,"Adolescent, Adult, Childhood, Elderly",Not applicable
77,OBSOLETE: Aniridia,Category,Group of disorders,,,,,,,,,,,
308459,Disorder of glycolysis,Category,Group of disorders,,0017688,,,C5681073,,,,,,
308451,Disorder of neutral amino acid transport,Category,Group of disorders,,0017687,,,C5848149,,,,,,
308448,Aminoacylase deficiency,Clinical group,Group of disorders,,0017686,,,C5681074,,,,,,
308442,"Vitamin B12-responsive methylmalonic acidemia, type cblDv2",Clinical subtype,Subtype of disorder,5C50.E0,0017685,E71.1,277410,C5679970,,,,"Vitamin B12-responsive methylmalonic acidemia, type cblDv2",,Autosomal recessive
308655,"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form",Clinical subtype,Subtype of disorder,5C51.3,0017697,E74.0,232500,C1856303,C565541,,,"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form",,Autosomal recessive
308638,"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form",Clinical subtype,Subtype of disorder,5C51.3,0017696,E74.0,232500,C5679971,,,,"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form",,Autosomal recessive
308621,"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form",Clinical subtype,Subtype of disorder,5C51.3,0017695,E74.0,232500,C5679972,,,,"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form",,Autosomal recessive
308604,"OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset",Clinical subtype,Subtype of disorder,,,,,,,,,,,
308573,"OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset",Clinical subtype,Subtype of disorder,,,,,,,,,,,
308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset",Clinical subtype,Subtype of disorder,5C51.3,0017694,E74.0,232300,C3888924,,,,"Glycogen storage disease due to acid maltase deficiency, infantile onset","Antenatal, Infancy, Neonatal",Autosomal recessive
308520,Glycogen storage disease due to glycogen synthase deficiency,Clinical group,Group of disorders,,,,,C5679973,,,,,,
309271,"Metachromatic leukodystrophy, adult form",Clinical subtype,Subtype of disorder,5C56.02,0017730,E75.2,250100,C0751279,,,,"Metachromatic leukodystrophy, adult form",Adult,Autosomal recessive
309279,Glycoproteinosis,Category,Group of disorders,5C56.2,0017731,,,C5681075,,,10670,,,
309282,"Alpha-mannosidosis, infantile form",Clinical subtype,Subtype of disorder,5C56.21,0017732,E77.1,248500,,,,,"Alpha-mannosidosis, infantile form",Infancy,Autosomal recessive
309288,"Alpha-mannosidosis, adult form",Clinical subtype,Subtype of disorder,5C56.21,0017733,E77.1,248500,C5679974,,,,"Alpha-mannosidosis, adult form",Adult,Autosomal recessive
309246,"GM2 gangliosidosis, AB variant",Disease,Disorder,5C56.00,0010099,E75.0,272750,C0268275,,,,"GM2 gangliosidosis, AB variant",Infancy,Autosomal recessive
309252,Atypical Gaucher disease due to saposin C deficiency,Clinical subtype,Subtype of disorder,5C56.0Y,0012517,E75.2,610539,C1864651,C566435,,,Atypical Gaucher disease due to saposin C deficiency,,Autosomal recessive
309256,"Metachromatic leukodystrophy, late infantile form",Clinical subtype,Subtype of disorder,5C56.02,0017729,E75.2,250100,C0751278,,,,"Metachromatic leukodystrophy, late infantile form",Infancy,Autosomal recessive
309263,"Metachromatic leukodystrophy, juvenile form",Clinical subtype,Subtype of disorder,5C56.02,0009591,E75.2,250100,C0751276,,,,"Metachromatic leukodystrophy, juvenile form","Adolescent, Childhood",Autosomal recessive
309324,"Free sialic acid storage disease, infantile form",Clinical subtype,Subtype of disorder,5C56.4,0010027,E77.8,269920,C1096902,,10067532,175,"Free sialic acid storage disease, infantile form","Antenatal, Neonatal",Autosomal recessive
309331,Intermediate severe Salla disease,Clinical subtype,Subtype of disorder,5C56.4,0017737,E77.8,604369,C5681076,,,,Intermediate severe Salla disease,,Autosomal recessive
309334,Salla disease,Clinical subtype,Subtype of disorder,,0011449,E77.8,604369,C1096903,,10067531,,Salla disease,Infancy,Autosomal recessive
309337,Lysosomal glycogen storage disease,Category,Group of disorders,,0017738,,,C5681077,,,,,,
309294,Sialidosis,Clinical group,Group of disorders,5C56.21,0017734,,,C0268226,,10058800,,Sialidosis,All ages,Autosomal recessive
309297,Mucopolysaccharidosis type 4A,Clinical subtype,Subtype of disorder,5C56.32,0009659,E76.2,253000,C0086651,,,3785,Mucopolysaccharidosis type 4A,Childhood,Autosomal recessive
309310,Mucopolysaccharidosis type 4B,Clinical subtype,Subtype of disorder,5C56.32,0009660,E76.2,253010,C0086652,,,3786,Mucopolysaccharidosis type 4B,,Autosomal recessive
309319,Disorder of sialic acid metabolism,Category,Group of disorders,5C56.4,0017736,,,C0342851,,,,,,
309139,OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA,Category,Group of disorders,,,,,,,,,,,
309136,Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes,Category,Group of disorders,,,,,C5681078,,,,,,
309147,Hyper-beta-alaninemia,Disease,Disorder,5C55.1,0009378,E79.8,237400,C0268630,C562684,,10267,Hyper-beta-alaninemia,Neonatal,
309144,Gangliosidosis,Category,Group of disorders,5C56.00,0017719,,,C0017083,D005733,,12510,,,
309127,3-hydroxyacyl-CoA dehydrogenase deficiency,Clinical group,Group of disorders,,0017715,,,C1291230,C535310,,,,,
309120,Acyl-CoA dehydrogenase deficiency,Clinical group,Group of disorders,,0017714,,,C0268635,,,,,,
309133,Metabolic disease due to other fatty acid oxidation disorder,Category,Group of disorders,,,,,C5681079,,,,,,
309130,Disorder of carnitine cycle and carnitine transport,Category,Group of disorders,5C52.00,0017716,,,C5681080,,,,,,
309185,"Tay-Sachs disease, juvenile form",Clinical subtype,Subtype of disorder,5C56.00,0017725,E75.0,272800,C5925030,,,,"Tay-Sachs disease, juvenile form",,Autosomal recessive
309178,"Tay-Sachs disease, infantile form",Clinical subtype,Subtype of disorder,5C56.00,0017724,E75.0,272800,C5925031,,,,"Tay-Sachs disease, infantile form",,Autosomal recessive
309239,"OBSOLETE: Tay-Sachs disease, B1 variant",Clinical subtype,Subtype of disorder,,,,,,,,,,,
309192,"Tay-Sachs disease, adult form",Clinical subtype,Subtype of disorder,5C56.00,0017726,E75.0,272800,C5925032,,,,"Tay-Sachs disease, adult form",,Autosomal recessive
309155,"Sandhoff disease, infantile form",Clinical subtype,Subtype of disorder,5C56.00,0017721,E75.0,268800,C0751490,,,,"Sandhoff disease, infantile form",Infancy,Autosomal recessive
309152,GM2 gangliosidosis,Clinical group,Group of disorders,5C56.00,0017720,E75.0,,C0268274,D020143,10083933,,,,
309169,"Sandhoff disease, adult form",Clinical subtype,Subtype of disorder,5C56.00,0017723,E75.0,268800,C0751489,,,,"Sandhoff disease, adult form",Adult,Autosomal recessive
309162,"Sandhoff disease, juvenile form",Clinical subtype,Subtype of disorder,5C56.00,0017722,E75.0,268800,C0751491,,,,"Sandhoff disease, juvenile form","Adolescent, Childhood",Autosomal recessive
300547,Autosomal recessive infantile hypercalcemia,Disease,Disorder,5C64.5,0000212,E83.5,143880,C4329374,,,,Autosomal recessive infantile hypercalcemia,"Infancy, Neonatal",Autosomal recessive
300552,Follicular cholangitis and pancreatitis,Disease,Disorder,DC33,0017589,K86.1,,C4749906,,,,Follicular cholangitis and pancreatitis,Adult,Unknown
300557,Carcinoma of the ampulla of Vater,Disease,Disorder,2C16,0017590,C24.1,,C0262401,,10048853,,Carcinoma of the ampulla of Vater,Adult,Not applicable
300564,Combined pulmonary fibrosis-emphysema syndrome,Disease,Disorder,CB03.1,0017591,J84.1,,C3872815,,10076515,,Combined pulmonary fibrosis-emphysema syndrome,Adult,Not applicable
300570,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,Disease,Disorder,,0013541,Q04.3,614039,C5191309,,,13032,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,"Infancy, Neonatal",Autosomal dominant
300573,Polymicrogyria due to TUBB2B mutation,Malformation syndrome,Disorder,,12399,Q04.3,610031,C5681081,,,,Polymicrogyria due to TUBB2B mutation,"Infancy, Neonatal",Autosomal dominant
300576,Oligodontia-cancer predisposition syndrome,Disease,Disorder,,0012075,,,C4750788,,,,,,
300579,Staphylococcal toxemia,Category,Group of disorders,,0017592,,,C0854511,,10041932,,Staphylococcal toxemia,All ages,
300496,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,Malformation syndrome,Disorder,,0010466,Q87.8,300868,C4751110,,,12777,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,"Antenatal, Infancy, Neonatal",X-linked recessive
300501,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,Malformation syndrome,Disorder,,0017585,D36.1,,C4751109,,,11006,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,Adolescent,Unknown
300504,Onychocytic matricoma,Disease,Disorder,,0017586,D23.9,,C4751108,,,11007,Onychocytic matricoma,"Adolescent, Adult, Childhood, Elderly",
300512,Onychomatricoma,Disease,Disorder,,0017587,D23.9,,C4751078,,,,Onychomatricoma,All ages,Unknown
300515,Rare nail tumor,Category,Group of disorders,,,,,C5681082,,,,,,
300525,Pseudohypoaldosteronism type 2D,Etiological subtype,Subtype of disorder,BA04.Y,0013781,I15.1,614495,C3469605,,,,Pseudohypoaldosteronism type 2D,,"Autosomal dominant, Autosomal recessive"
300530,Pseudohypoaldosteronism type 2E,Etiological subtype,Subtype of disorder,BA04.Y,0013782,I15.1,614496,C3469606,,,,Pseudohypoaldosteronism type 2E,,Autosomal dominant
300536,DDOST-CDG,Disease,Disorder,,0013789,E77.8,614507,C3281084,,,12398,DDOST-CDG,"Infancy, Neonatal",Autosomal recessive
300849,Diffuse large B-cell lymphoma of the central nervous system,Disease,Disorder,2A81.5,0017596,C83.3,,C2026186,,,,Diffuse large B-cell lymphoma of the central nervous system,,"Multigenic/multifactorial, Not applicable"
300846,Aggressive B-cell non-Hodgkin lymphoma,Category,Group of disorders,,0017595,,,C5555120,,,,Aggressive B-cell non-Hodgkin lymphoma,Adult,
300865,Primary cutaneous anaplastic large cell lymphoma,Disease,Disorder,2B03.0,0017598,C86.6,,C1301362,D054446,10065863,,Primary cutaneous anaplastic large cell lymphoma,"Adolescent, Adult, Childhood",
300857,T-cell/histiocyte rich large B cell lymphoma,Disease,Disorder,2A81.4,0017597,C83.3,,C1321547,,,12257,T-cell/histiocyte rich large B cell lymphoma,"Adolescent, Adult, Childhood, Elderly","Multigenic/multifactorial, Not applicable"
300878,Hairy cell leukemia variant,Disease,Disorder,2A82.3,0017600,C91.4,,C0349633,,10019054,,Hairy cell leukemia variant,"Adult, Elderly",Unknown
300869,Splenic diffuse red pulp small B-cell lymphoma,Disease,Disorder,2A82.Y,0017599,C83.0,,C2699508,,,,,,
300895,ALK-positive anaplastic large cell lymphoma,Histopathological subtype,Subtype of disorder,2A90.A,0017602,C84.6,,C1332079,,,,ALK-positive anaplastic large cell lymphoma,"Adolescent, Adult, Childhood",Not applicable
300888,Diffuse large B-cell lymphoma with chronic inflammation,Disease,Disorder,,0017601,C83.3,,C4511460,,,,,,
300605,Juvenile amyotrophic lateral sclerosis,Disease,Disorder,,0017593,G12.2,614373,C3468114,,,11901,Juvenile amyotrophic lateral sclerosis,Childhood,Autosomal recessive
300755,Laminopathy with striated muscle involvement,Category,Group of disorders,,,,,C5681083,,,,,,
300751,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,Disease,Disorder,BC43.00,7269,I42.0,115200,C4707865,,,,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,Adult,Autosomal dominant
300763,Laminopathy with lipodystrophy,Category,Group of disorders,,,,,C5681084,,,,,,
300758,Laminopathy with peripheral neuropathy,Category,Group of disorders,,,,,C5681085,,,,,,
300842,Indolent B-cell non-Hodgkin lymphoma,Category,Group of disorders,,0017594,,,C5419078,,,,Indolent B-cell non-Hodgkin lymphoma,Adult,
300766,Laminopathy with premature aging,Category,Group of disorders,,,,,C5567864,,,,,,
300903,ALK-negative anaplastic large cell lymphoma,Histopathological subtype,Subtype of disorder,XH9T74,0017603,C84.7,,C1332078,,,,ALK-negative anaplastic large cell lymphoma,Adult,Not applicable
300912,Marginal zone lymphoma,Clinical group,Group of disorders,,0017604,,,C0242647,D018442,,13237,Marginal zone lymphoma,Adult,
304055,Pituitary tumor,Category,Group of disorders,,0017611,,,C0032019,D010911,10035104,,,,
306436,OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance,Clinical subtype,Subtype of disorder,,,,,,,,,,,
306431,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,Disease,Disorder,,0017617,D84.8,,C5191336,,,11992,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,Adult,Not applicable
306462,OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance,Clinical subtype,Subtype of disorder,,,,,,,,,,,
306446,OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance,Clinical subtype,Subtype of disorder,,,,,,,,,,,
306550,FADD-related immunodeficiency,Disease,Disorder,4A01.21,0013408,D89.8,613759,C4509831,,,,FADD-related immunodeficiency,"Infancy, Neonatal",Autosomal recessive
306553,Myospherulosis,Disease,Disorder,,0017628,M79.8,,C0027123,,,,Myospherulosis,Adult,Not applicable
306542,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,Malformation syndrome,Disorder,,0013271,Q87.0,613456,C4751077,,,,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,"Antenatal, Neonatal",Autosomal recessive
306547,Porencephaly-microcephaly-bilateral congenital cataract syndrome,Malformation syndrome,Disorder,,0013394,Q07.8,613730,C4751076,,,,Porencephaly-microcephaly-bilateral congenital cataract syndrome,"Infancy, Neonatal",Autosomal recessive
306530,Congenital hereditary facial paralysis-variable hearing loss syndrome,Morphological anomaly,Disorder,,0017627,Q87.0,614744,C4302592,,,,Congenital hereditary facial paralysis-variable hearing loss syndrome,"Infancy, Neonatal",Autosomal recessive
306539,OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary,Disease,Disorder,,,,,,,,,,,
306522,OBSOLETE: Genetic primary hypomagnesemia with normocalciuria,Clinical group,Group of disorders,,,,,,,,,,,
306527,Isolated hereditary congenital facial paralysis,Morphological anomaly,Disorder,,0011090,Q87.0,601471,C4518577,,,8583,Isolated hereditary congenital facial paralysis,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
306516,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,Disease,Disorder,5C64.41,0017624,E83.4,,C5679977,,,,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,"Childhood, Infancy",Autosomal recessive
306519,OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria,Clinical group,Group of disorders,,,,,,,,,,,
306507,LAMB2-related infantile-onset nephrotic syndrome,Disease,Disorder,,,,614199,,,,,,,
306511,Autosomal recessive spastic paraplegia type 48,Disease,Disorder,,0013342,G11.4,613647,C3150901,,,17378,Autosomal recessive spastic paraplegia type 48,Adult,Autosomal recessive
306498,PTEN hamartoma tumor syndrome,Disease,Disorder,LD2D.Y,0017623,Q85.8,,C1959582,,,12800,PTEN hamartoma tumor syndrome,All ages,Autosomal dominant
306504,Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,Disease,Disorder,,0013881,J84.8,614748,C4518785,,,,Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,"Infancy, Neonatal",Autosomal recessive
306474,OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance,Clinical subtype,Subtype of disorder,,,,,,,,,,,
306486,OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance,Clinical subtype,Subtype of disorder,,,,,,,,,,,
306666,Rare parkinsonian syndrome due to neurodegenerative disease,Category,Group of disorders,,,,,C5681086,,,,,,
306661,Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,Clinical subtype,Subtype of disorder,,0100251,M11.2,617994,C5679978,,,10879,Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,,Autosomal recessive
306658,Familial normophosphatemic tumoral calcinosis,Clinical subtype,Subtype of disorder,5C64.5,0012502,M11.2,610455,C1864861,C566473,,10878,Familial normophosphatemic tumoral calcinosis,Infancy,Autosomal recessive
306648,Non-infectious anterior uveitis,Category,Group of disorders,,0017634,,,C0339317,,,,,,
306644,Complication after organ transplantation,Particular clinical situation in a disease or syndrome,Disorder,NE84,700220,T86.8,,C5681087,,,,Complication after organ transplantation,All ages,Not applicable
306640,Rare intoxication due to medical products,Category,Group of disorders,,,,,C5681088,,,,,,
306636,Rare tumor of liver and intrahepatic biliary tract,Category,Group of disorders,,,,,C5679979,,,,,,
306633,Rare tumor of gallbladder and extrahepatic biliary tract,Category,Group of disorders,,,,,C5679980,,,,,,
306617,X-linked complicated spastic paraplegia type 1,Clinical subtype,Subtype of disorder,,0017630,,,C5779711,,,,X-linked complicated spastic paraplegia type 1,"Antenatal, Infancy, Neonatal",X-linked recessive
306597,OBSOLETE: X-linked Opitz G/BBB syndrome,Etiological subtype,Subtype of disorder,,,,,,,,,,,
306588,OBSOLETE: Autosomal dominant Opitz G/BBB syndrome,Etiological subtype,Subtype of disorder,,,,,,,,,,,
306577,Hereditary sodium channelopathy-related small fibers neuropathy,Disease,Disorder,,0017629,G99.1,615551,C5925033,,,,Hereditary sodium channelopathy-related small fibers neuropathy,No data available,Autosomal dominant
306561,OBSOLETE: Autosomal dominant childhood-onset cortical cataract,Clinical subtype,Subtype of disorder,,,,,,,,,,,
306558,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,Disease,Disorder,8A60.9,,Q02,619278,C5190632,,,,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,Neonatal,Autosomal recessive
295091,"OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295089,"OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295095,"OBSOLETE: Congenital absence of both forearm and hand, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295093,"OBSOLETE: Congenital absence of both forearm and hand, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295099,"OBSOLETE: Congenital absence of both lower leg and foot, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295097,"OBSOLETE: Congenital absence of both lower leg and foot, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295103,"OBSOLETE: Acheiria, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295101,"OBSOLETE: Acheiria, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295107,"OBSOLETE: Apodia, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295105,"OBSOLETE: Apodia, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295112,"OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295110,"OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295116,"OBSOLETE: Adactyly of foot, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295114,"OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295120,"OBSOLETE: Split hand, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295118,"OBSOLETE: Adactyly of foot, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295122,"OBSOLETE: Split hand, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295124,"OBSOLETE: Split foot, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295126,"OBSOLETE: Split foot, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295128,"OBSOLETE: Brachydactyly of fingers, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295130,"OBSOLETE: Brachydactyly of fingers, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295132,"OBSOLETE: Brachydactyly of toes, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295134,"OBSOLETE: Brachydactyly of toes, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295136,"OBSOLETE: Symbrachydactyly of hand and foot, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295138,"OBSOLETE: Symbrachydactyly of hand and foot, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295140,"OBSOLETE: Hyperphalangy, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295142,"OBSOLETE: Hyperphalangy, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295144,"OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295146,"OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295148,"OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295150,"OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295152,"OBSOLETE: Polydactyly of an index finger, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295163,"OBSOLETE: Postaxial polydactyly type A, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295161,"OBSOLETE: Polysyndactyly, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295159,"OBSOLETE: Polysyndactyly, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295154,"OBSOLETE: Polydactyly of an index finger, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295171,"OBSOLETE: Central polydactyly of fingers, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295169,"OBSOLETE: Postaxial polydactyly type B, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295167,"OBSOLETE: Postaxial polydactyly type B, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295165,"OBSOLETE: Postaxial polydactyly type A, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295179,"OBSOLETE: Postaxial polydactyly of toes, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295177,"OBSOLETE: Preaxial polydactyly of toes, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295175,"OBSOLETE: Preaxial polydactyly of toes, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295173,"OBSOLETE: Central polydactyly of fingers, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295187,Zygodactyly type 1,Clinical subtype,Subtype of disorder,LB79.Y,0012351,Q70.3,609815,C1853294,C565223,,,,,
295185,"OBSOLETE: Central polydactyly of toes, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295183,"OBSOLETE: Central polydactyly of toes, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295181,"OBSOLETE: Postaxial polydactyly of toes, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295193,Zygodactyly type 4,Clinical subtype,Subtype of disorder,LB79.Y,0017545,Q70.3,,C5679981,,,,,,
295195,Synpolydactyly type 1,Clinical subtype,Subtype of disorder,LB79.Y,0008513,Q70.0,186000,C5574994,,,,Synpolydactyly type 1,,Autosomal dominant
295189,Zygodactyly type 2,Clinical subtype,Subtype of disorder,LB79.Y,0017543,Q70.3,,C5679982,,,,,,
295191,Zygodactyly type 3,Clinical subtype,Subtype of disorder,LB79.Y,0017544,Q70.3,,C5679983,,,,Zygodactyly type 3,,Autosomal dominant
295201,"Congenital vertical talus, unilateral",Clinical subtype,Subtype of disorder,LB98.4,0017546,Q66.8,192950,C5681089,,,,"Congenital vertical talus, unilateral",,Autosomal dominant
295203,"Congenital vertical talus, bilateral",Clinical subtype,Subtype of disorder,LB98.4,0017547,Q66.8,192950,C1860446,,,,"Congenital vertical talus, bilateral",,Autosomal dominant
295197,Synpolydactyly type 2,Clinical subtype,Subtype of disorder,LB79.Y,0011984,Q70.2,608180,C1842422,C564278,,,Synpolydactyly type 2,,Autosomal dominant
295199,Synpolydactyly type 3,Clinical subtype,Subtype of disorder,LB79.Y,0012447,Q70.2,610234,C1853255,C565216,,,,,
295209,"OBSOLETE: Humero-radial synostosis, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295211,"OBSOLETE: Humero-radial synostosis, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295205,"OBSOLETE: Humero-radio-ulnar synostosis, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295207,"OBSOLETE: Humero-radio-ulnar synostosis, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295217,"OBSOLETE: Radio-ulnar synostosis, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295219,"OBSOLETE: Radio-ulnar synostosis, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295213,"OBSOLETE: Humero-ulnar synostosis, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295215,"OBSOLETE: Humero-ulnar synostosis, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295232,Congenital genu flexum,Clinical subtype,Subtype of disorder,LB93.1,0017561,Q68.2,,C5681090,,,,,,
295229,Congenital genu recurvatum,Clinical subtype,Subtype of disorder,LB93.0,0017560,Q68.2,,C0152235,,,,,,
295237,"OBSOLETE: Congenital patella dislocation, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295234,"OBSOLETE: Congenital patella dislocation, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295223,"OBSOLETE: Madelung deformity, bilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295221,"OBSOLETE: Madelung deformity, unilateral",Clinical subtype,Subtype of disorder,,,,,,,,,,,
295227,"Congenital elbow dislocation, bilateral",Clinical subtype,Subtype of disorder,LB92,0017559,Q68.8,,C5437776,,,,,,
295225,"Congenital elbow dislocation, unilateral",Clinical subtype,Subtype of disorder,LB92,0017558,Q68.8,,C5681091,,,,,,
295241,"Macrodactyly of fingers, bilateral",Clinical subtype,Subtype of disorder,LB97.0,0017565,Q74.0,,C5437813,,,,,,
295239,"Macrodactyly of fingers, unilateral",Clinical subtype,Subtype of disorder,LB97.0,0017564,Q74.0,155500,C5679987,,,,"Macrodactyly of fingers, unilateral",,Autosomal dominant
295245,"Macrodactyly of toes, bilateral",Clinical subtype,Subtype of disorder,LB97.1,0017567,Q74.2,,C5437810,,,,,,
295243,"Macrodactyly of toes, unilateral",Clinical subtype,Subtype of disorder,LB97.1,0017566,Q74.2,155500,C5679988,,,,"Macrodactyly of toes, unilateral",,Autosomal dominant
298644,Disorder of thiamine metabolism and transport,Category,Group of disorders,,0017578,,,C5681092,,,,Disorder of thiamine metabolism and transport,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
300179,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,Clinical subtype,Subtype of disorder,LD28.1Y,0013800,Q79.6,614557,C4303788,,,,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,"Infancy, Neonatal",Autosomal recessive
300319,Charcot-Marie-Tooth disease type 2P,Disease,Disorder,,,G60.0,614436,C3280797,,,12435,Charcot-Marie-Tooth disease type 2P,"Adolescent, Adult","Autosomal dominant, Autosomal recessive"
300324,Persistent polyclonal B-cell lymphocytosis,Disease,Disorder,,0011672,D72.8,606445,C1847973,C564707,,,Persistent polyclonal B-cell lymphocytosis,No data available,Multigenic/multifactorial
300313,Congenital cataract-hearing loss-severe developmental delay syndrome,Disease,Disorder,,0013772,E88.8,614482,C4751114,,,,Congenital cataract-hearing loss-severe developmental delay syndrome,"Infancy, Neonatal",Autosomal recessive
300298,Severe congenital hypochromic anemia with ringed sideroblasts,Disease,Disorder,3A72.00,0014094,D64.0,615234,C4511137,,,,Severe congenital hypochromic anemia with ringed sideroblasts,"Infancy, Neonatal",Unknown
300305,11p15.4 microduplication syndrome,Malformation syndrome,Disorder,LD41.A,0017580,Q92.3,,C4749508,,,,11p15.4 microduplication syndrome,"Infancy, Neonatal",Autosomal dominant
300284,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,Disease,Disorder,4A4Y,0012892,M35.8,612394,C4706393,,,,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,"Antenatal, Neonatal",Not applicable
300293,Transient infantile hypertriglyceridemia and hepatosteatosis,Disease,Disorder,DB99.Y,0013771,K76.0,614480,C4751115,,,,Transient infantile hypertriglyceridemia and hepatosteatosis,"Infancy, Neonatal",Autosomal recessive
300385,Pituitary carcinoma,Disease,Disorder,,0017582,C75.1,,C0346300,,,9371,Pituitary carcinoma,All ages,Unknown
300493,Sagliker syndrome,Particular clinical situation in a disease or syndrome,Disorder,GB90.4Y,0017584,M89.8,,C5681093,,,,Sagliker syndrome,All ages,Multigenic/multifactorial
300373,X-linked acrogigantism,Disease,Disorder,5A60.0,0017581,E22.0,300942,C4751112,,,,X-linked acrogigantism,"Childhood, Infancy, Neonatal",X-linked dominant
300382,Progeroid and marfanoid aspect-lipodystrophy syndrome,Disease,Disorder,LD27.6,0014831,E88.1,616914,C4751111,,,,Progeroid and marfanoid aspect-lipodystrophy syndrome,"Infancy, Neonatal",Autosomal dominant
300345,Autosomal systemic lupus erythematosus,Disease,Disorder,4A40.0Y,0013743,M32.8,614420,C4750787,,,,Autosomal systemic lupus erythematosus,Childhood,"Autosomal dominant, Autosomal recessive"
300359,PLCG2-associated antibody deficiency and immune dysregulation,Disease,Disorder,4A60.Y,0013766,L50.2,614468,C4722480,,,,PLCG2-associated antibody deficiency and immune dysregulation,"Infancy, Neonatal",Autosomal dominant
300333,Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,Disease,Disorder,GB41,0012190,N04.8,609057,C4751113,,,,Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,Adolescent,Autosomal recessive
300337,OBSOLETE: Congenital blindness due to retinal non-attachment,Disease,Disorder,,,,,,,,,,,
464682,OBSOLETE: Disorder with acute infantile liver failure,Category,Group of disorders,,,,,,,,,,,
464724,Fever-associated acute infantile liver failure syndrome,Disease,Disorder,DB91.1,,K72.0,618641,C5681094,,,,Fever-associated acute infantile liver failure syndrome,Infancy,Autosomal recessive
464738,Basel-Vanagaite-Smirin-Yosef syndrome,Malformation syndrome,Disorder,,0014643,Q87.8,616449,C4225323,,,,Basel-Vanagaite-Smirin-Yosef syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
464760,Familial cavitary optic disc anomaly,Morphological anomaly,Disorder,LA13.7Y,0012687,Q14.2,611543,C1969063,,,,Familial cavitary optic disc anomaly,"Adolescent, Adult",Autosomal dominant
464756,Familial gastric type 1 neuroendocrine tumor,Disease,Disorder,2B72.1,0018742,C16.9,,C5681095,,,,Familial gastric type 1 neuroendocrine tumor,Adult,Autosomal recessive
464764,Immune-mediated acquired neuromuscular junction disease,Clinical group,Group of disorders,,,,,C5681096,,,,,,
465508,Symptomatic form of HFE-related hemochromatosis,Disease,Disorder,,0034028,E83.1,235200,C5679990,,,10417,Symptomatic form of HFE-related hemochromatosis,Adult,Autosomal recessive
464282,Spastic paraplegia-severe developmental delay-epilepsy syndrome,Disease,Disorder,,0014764,Q87.8,616756,C5568869,,,,Spastic paraplegia-severe developmental delay-epilepsy syndrome,Infancy,Autosomal recessive
464288,Short stature-brachydactyly-obesity-global developmental delay syndrome,Malformation syndrome,Disorder,,0014944,Q87.8,617157,C5568868,,,,Short stature-brachydactyly-obesity-global developmental delay syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
464306,DYRK1A-related intellectual disability syndrome,Malformation syndrome,Disorder,LD90.Y,0013578,Q87.8,614104,C5568143,,,13527,DYRK1A-related intellectual disability syndrome,Infancy,"Autosomal dominant, Not applicable, Unknown"
464293,NON RARE IN EUROPE: Infantile capillary hemangioma,Disease,Disorder,,,,,,,,,,,
464329,Kaposiform lymphangiomatosis,Disease,Disorder,2E81.10,0018736,D18.1,,C5681097,,,13451,Kaposiform lymphangiomatosis,Childhood,Not applicable
464321,Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,Disease,Disorder,,0018735,D18.1,,C5575322,,,10467,Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,"Infancy, Neonatal",Not applicable
464318,Verrucous hemangioma,Disease,Disorder,LC52,0018734,D18.0,,C0334540,,,,Verrucous hemangioma,"Infancy, Neonatal",Not applicable
464311,Intellectual disability syndrome due to a DYRK1A point mutation,Etiological subtype,Subtype of disorder,LD90.Y,0018733,Q87.8,614104,C5679991,,,,Intellectual disability syndrome due to a DYRK1A point mutation,"Infancy, Neonatal",Autosomal dominant
464366,NEK9-related lethal skeletal dysplasia,Malformation syndrome,Disorder,LD26.4Y,0014870,Q77.2,617022,C5568141,,,,NEK9-related lethal skeletal dysplasia,Antenatal,Autosomal recessive
464359,Benign metanephric tumor,Disease,Disorder,2F35,0018738,D30.0,,C5681098,,,,Benign metanephric tumor,All ages,Not applicable
464343,Catastrophic antiphospholipid syndrome,Disease,Disorder,4A45,0018737,D68.6,,C3662487,,,9820,Catastrophic antiphospholipid syndrome,Adult,Not applicable
464336,BENTA disease,Disease,Disorder,,0014645,D81.8,616452,C4551967,,,13339,BENTA disease,Infancy,Autosomal dominant
464453,Acquired methemoglobinemia,Disease,Disorder,3A93,0018740,D74.8,,C0271905,,,,Acquired methemoglobinemia,All ages,Not applicable
464443,COG6-CGD,Disease,Disorder,,0013810,E77.8,614576,C3553230,,,10944,COG6-CGD,Neonatal,Autosomal recessive
464440,"Primary dystonia, DYT27 type",Disease,Disorder,,0014627,G24.1,616411,C4225336,,,,"Primary dystonia, DYT27 type","Adult, Childhood",Autosomal recessive
464370,Neonatal alloimmune neutropenia,Disease,Disorder,KA8E,0018739,P61.5,,C0272176,,,,Neonatal alloimmune neutropenia,Neonatal,
464463,NON RARE IN EUROPE: Adenocarcinoma of stomach,Disease,Disorder,,,,,,,,,,,
464458,Paracetamol poisoning,Particular clinical situation in a disease or syndrome,Disorder,NE60,0018741,T88.7,,C0237963,,,,Paracetamol poisoning,All ages,Not applicable
639,Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG,Disease,Disorder,,0018977,,,C1736154,,10078324,,,,
662,Lymphedema with yellow nails,Disease,Disorder,EE11.1,0007921,L60.5,153300,C0221348,D056684,10048244,184,Lymphedema with yellow nails,"Adult, Childhood, Neonatal",
537,Toxic epidermal necrolysis,Clinical subtype,Subtype of disorder,EB13.1,0018890,L51.2,,C0014518,,10044223,,Toxic epidermal necrolysis,All ages,Not applicable
793,SAPHO syndrome,Disease,Disorder,4A61,0019266,M86.3,,C0263859,D020083,10051316,7606,SAPHO syndrome,"Adolescent, Adult, Elderly","Multigenic/multifactorial, Not applicable"
456298,1p35.2 microdeletion syndrome,Malformation syndrome,Disorder,,0018697,Q93.5,617930,C5679992,,,,1p35.2 microdeletion syndrome,Neonatal,Not applicable
456328,X-linked myotubular myopathy-abnormal genitalia syndrome,Disease,Disorder,,0010271,Q99.8,300219,C1846169,C564561,,,X-linked myotubular myopathy-abnormal genitalia syndrome,"Antenatal, Neonatal",Unknown
456333,Hereditary neuroendocrine tumor of small intestine,Disease,Disorder,2B80.21,0018698,C17.9,,C5679993,,,,Hereditary neuroendocrine tumor of small intestine,,Autosomal dominant
456312,Infantile multisystem neurologic-endocrine-pancreatic disease,Disease,Disorder,LD90.Y,8000012,Q87.8,616263,C5779989,,,,Infantile multisystem neurologic-endocrine-pancreatic disease,Infancy,Autosomal recessive
456318,Hereditary sensory neuropathy-deafness-dementia syndrome,Disease,Disorder,,0013584,G60.8,614116,C3279885,C580162,,11927,Hereditary sensory neuropathy-deafness-dementia syndrome,"Adolescent, Adult",Autosomal dominant
454840,NTHL1-related polyposis,Disease,Disorder,,0014630,D12.6,616415,C4225157,,,,NTHL1-related polyposis,"Adult, Elderly",Autosomal recessive
454872,OBSOLETE: Type 1 interferonopathy with immunodeficiency,Category,Group of disorders,,,,,,,,,,,
454831,Acute radiation syndrome,Particular clinical situation in a disease or syndrome,Disorder,NF00,0033938,T66,,C0520799,D054508,,,Acute radiation syndrome,All ages,Not applicable
454836,Avian influenza,Disease,Disorder,1E31,0018695,J09,,C0016627,D005585,10064097,,Avian influenza,All ages,Not applicable
454887,Corticobasal syndrome,Disease,Disorder,,0018696,G31.0,,C0393570,D000088282,,,Corticobasal syndrome,"Adult, Elderly",
454742,Variably protease-sensitive prionopathy,Disease,Disorder,8E03,0018692,A81.8,,C4303527,,,,Variably protease-sensitive prionopathy,,Not applicable
454723,Endometrioid carcinoma of ovary,Disease,Disorder,2C73.Y,6335,C56,,C0346163,,10073269,,Endometrioid carcinoma of ovary,"Adult, Elderly",Not applicable
454718,Holmes-Adie syndrome,Disease,Disorder,9B01.1,0018690,H57.0,103100,C0001519,D000270,10020352,5749,Holmes-Adie syndrome,Adult,Not applicable
454714,Plasma cell leukemia,Disease,Disorder,2A83.4,0018689,C90.1,,C0023484,D007952,10035222,9373,Plasma cell leukemia,"Adult, Elderly",Not applicable
454821,OBSOLETE: Pleomorphic salivary gland adenoma,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
454750,Isolated tracheoesophageal fistula,Morphological anomaly,Disorder,LB12.2,0018694,Q39.2,,C0040588,D014138,10044310,21895,Isolated tracheoesophageal fistula,Neonatal,Not applicable
454745,Kuru,Disease,Disorder,8E01.1,0006825,A81.8,245300,C0022802,D007729,10023497,7617,Kuru,All ages,"Multigenic/multifactorial, Not applicable"
453533,Polyendocrine-polyneuropathy syndrome,Disease,Disorder,,0014497,E34.8,616113,C4015261,,,,Polyendocrine-polyneuropathy syndrome,Childhood,Autosomal recessive
453521,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,Disease,Disorder,,0014503,G11.1,616127,C4015301,,,,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,"Infancy, Neonatal",Autosomal recessive
454710,Anti-p200 pemphigoid,Disease,Disorder,EB41.Y,0018688,L12.8,,C5681099,,,,Anti-p200 pemphigoid,"Adult, Elderly",Not applicable
454706,Progressive muscular atrophy,Disease,Disorder,8B60.3,0018687,G12.2,,C0917981,,10036808,,Progressive muscular atrophy,Adult,Not applicable
454700,Acquired Creutzfeldt-Jakob disease,Clinical group,Group of disorders,,0018686,,123400,C5681100,,,,Acquired Creutzfeldt-Jakob disease,All ages,Not applicable
451602,Primary cutaneous plasmacytosis,Disease,Disorder,EK91.2,0018679,L98.6,,C4736227,,,,Primary cutaneous plasmacytosis,"Adult, Elderly",Not applicable
451607,Cutaneous pseudolymphoma,Disease,Disorder,4A43.0,0018680,L98.6,,C0311220,,,,Cutaneous pseudolymphoma,"Adult, Elderly",Not applicable
451612,Familial congenital nasolacrimal duct obstruction,Morphological anomaly,Disorder,LA14.14,0007871,Q10.5,149700,C5681101,,,,Familial congenital nasolacrimal duct obstruction,"Antenatal, Neonatal",Autosomal recessive
453499,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,Malformation syndrome,Disorder,LD2F.1Y,,Q87.8,616580,C4225274,,,,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
453504,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,Etiological subtype,Subtype of disorder,,,Q87.8,616580,C5848390,,,,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,Neonatal,"Autosomal dominant, Not applicable"
453510,Congenital insensitivity to pain with severe intellectual disability,Disease,Disorder,,0018682,G60.8,,C5679994,,,,Congenital insensitivity to pain with severe intellectual disability,Neonatal,Autosomal recessive
450322,Polyclonal hyperviscosity syndrome,Clinical syndrome,Disorder,,0018678,D89.0,,C5681102,,,,Polyclonal hyperviscosity syndrome,"Adolescent, Adult, All ages, Elderly",Not applicable
449566,Eosinophilic angiocentric fibrosis,Disease,Disorder,4A43.0,0018676,J39.8,,C5578050,,10087310,,Eosinophilic angiocentric fibrosis,Adult,Not applicable
449563,IgG4-related ophthalmic disease,Clinical subtype,Subtype of disorder,4A43.0,0018675,H05.1,,C5569009,,,,IgG4-related ophthalmic disease,"Adult, Elderly",Not applicable
449291,OBSOLETE: Symptomatic form of fragile X syndrome in female carriers,Disease,Disorder,,,,,,,,,,,
449400,IgG4-related aortitis,Clinical subtype,Subtype of disorder,4A43.0,0018672,I77.6,,C5569008,,,,IgG4-related aortitis,"Adult, Elderly",Not applicable
449395,IgG4-related kidney disease,Clinical subtype,Subtype of disorder,4A43.0,0018671,N11.8,,C5392056,,,,IgG4-related kidney disease,"Adult, Elderly",Not applicable
449432,IgG4-related submandibular gland disease,Clinical subtype,Subtype of disorder,4A43.0,0018674,K11.2,,C5679995,,,,IgG4-related submandibular gland disease,"Adult, Elderly",Not applicable
449427,IgG4-related pachymeningitis,Clinical subtype,Subtype of disorder,4A43.0,0018673,G03.9,,C4545992,,,13256,IgG4-related pachymeningitis,"Adult, Elderly",Not applicable
449280,Scedosporiosis,Disease,Disorder,1F2H,0018668,B48.7,,C1142170,C000656924,10059045,,Scedosporiosis,All ages,Not applicable
449285,Snakebite envenomation,Disease,Disorder,NE61,0018669,T63.0,,C0037379,D012909,,,Snakebite envenomation,All ages,Not applicable
449266,Pleural empyema,Particular clinical situation in a disease or syndrome,Disorder,CA44,0018667,J86.9,,C0014013,D016724,,,Pleural empyema,All ages,Not applicable
449262,NON RARE IN EUROPE: Primary bile acid malabsorption,Disease,Disorder,,,,,,,,,,,
448372,OBSOLETE: X-linked acrogigantism due to Xq26 microduplication,Etiological subtype,Subtype of disorder,,,,,,,,,,,
448426,Genetic primary orthostatic hypotension,Category,Group of disorders,,,,,C5681106,,,,,,
448348,OBSOLETE: X-linked acrogigantism due to a point mutation,Etiological subtype,Subtype of disorder,,,,,,,,,,,
448264,Isolated focal non-epidermolytic palmoplantar keratoderma,Disease,Disorder,,0014622,L98.8,616400,C5681107,,,,Isolated focal non-epidermolytic palmoplantar keratoderma,Childhood,Autosomal dominant
448251,Progressive autosomal recessive ataxia-deafness syndrome,Disease,Disorder,,0014572,G11.1,616291,C4225383,,,,Progressive autosomal recessive ataxia-deafness syndrome,"Adolescent, Childhood, Infancy",Autosomal recessive
448270,Ectopia cordis,Morphological anomaly,Disorder,LA80.3,0018664,Q24.8,,C0013580,D054083,10014144,,Ectopia cordis,Antenatal,Not applicable
448267,Regressive spondylometaphyseal dysplasia,Malformation syndrome,Disorder,LD24.4,0018663,Q77.8,618019,C4747922,,,,Regressive spondylometaphyseal dysplasia,Neonatal,Autosomal recessive
448010,CAD-CDG,Disease,Disorder,5C54.2,0014647,E77.8,616457,C4225320,,,13621,CAD-CDG,Infancy,Autosomal recessive
447997,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,Disease,Disorder,,0014725,Q02,616657,C4225254,,,13425,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,"Infancy, Neonatal",Autosomal recessive
448242,Autosomal recessive brachyolmia,Malformation syndrome,Disorder,LD24.5Y,0018662,Q76.3,271630,C4760908,,,,Autosomal recessive brachyolmia,Childhood,Autosomal recessive
448237,Zika virus disease,Disease,Disorder,1D48,0018661,A92.5,,C0276289,D000071243,10078205,12894,Zika virus disease,All ages,Not applicable
447977,Progressive scapulohumeroperoneal distal myopathy,Disease,Disorder,,0014800,G71.0,616852,C4225181,,,,Progressive scapulohumeroperoneal distal myopathy,"Childhood, Infancy",Autosomal dominant
447974,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0014689,Q76.1,616549,C4225285,,,,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,Infancy,Autosomal recessive
447985,Partial duplication of the short arm of chromosome 19 syndrome,Category,Group of disorders,,0018659,,,C4518508,,,,,,
447980,19p13.3 microduplication syndrome,Malformation syndrome,Disorder,,0018658,Q92.3,,C5679996,,,,19p13.3 microduplication syndrome,"Antenatal, Neonatal",Unknown
447954,Combined oxidative phosphorylation defect type 25,Disease,Disorder,5C53.23,0014636,E88.8,616430,C5567742,,,,Combined oxidative phosphorylation defect type 25,Neonatal,Autosomal recessive
447964,Autosomal dominant Charcot-Marie-Tooth disease type 2V,Disease,Disorder,,0014665,G60.0,616491,C5569050,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2V,"Adolescent, Adult, Elderly",Autosomal dominant
447961,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,Disease,Disorder,,0018657,D04.8,618373,C5681108,,,,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,Infancy,Autosomal recessive
459353,OBSOLETE: C1 inhibitor deficiency,Disease,Disorder,,,,,,,,,,,
459526,Rare genetic capillary malformation,Category,Group of disorders,,,,,C5681109,,,,,,
459345,Immunodeficiency due to a complement cascade component deficiency,Category,Group of disorders,,0003832,,,C5681110,,,,,,
459348,Immunodeficiency due to a complement regulatory deficiency,Category,Group of disorders,,,,,C5681111,,,,,,
459543,Rare genetic vascular tumor,Category,Group of disorders,,,,,C5681112,,,,,,
459548,Rare genetic venous malformation,Category,Group of disorders,,,,,C5681113,,,,,,
459530,OBSOLETE: Genetic primary lymphedema,Category,Group of disorders,,,,,,,,,,,
459537,Genetic complex vascular malformation with associated anomalies,Category,Group of disorders,,,,,C5679997,,,,,,
459787,Lethal multiple congenital anomalies/dysmorphic syndrome,Category,Group of disorders,,,,,C5681114,,,,,,
459690,NON RARE IN EUROPE: Gender dysphoria,Disease,Disorder,,,,,,,,,,,
459696,NON RARE IN EUROPE: Juvenile idiopathic scoliosis,Morphological anomaly,Disorder,,,M41.1,,,,,,,,
458837,Rare combined vascular malformation,Clinical group,Group of disorders,,,,,C5681115,,,,,,
458833,Common cystic lymphatic malformation,Clinical group,Group of disorders,,,,,C5681116,,,,,,
458844,Rare vascular malformation of major vessels,Category,Group of disorders,,,,,C5681117,,,,,,
458841,OBSOLETE: Primary lymphedema with associated anomalies,Category,Group of disorders,,,,,,,,,,,
459033,Ataxia-oculomotor apraxia type 4,Disease,Disorder,,0014557,G60.2,616267,C4225397,,,13111,Ataxia-oculomotor apraxia type 4,"Childhood, Infancy",Autosomal recessive
459051,"Spondyloepiphyseal dysplasia, Stanescu type",Disease,Disorder,LD24.3,0014701,Q77.7,616583,C4225273,,,,"Spondyloepiphyseal dysplasia, Stanescu type",Childhood,Autosomal dominant
459061,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,Malformation syndrome,Disorder,,,Q87.8,616901,C4310801,,,,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,"Antenatal, Neonatal",Autosomal recessive
459056,Autosomal recessive spastic paraplegia type 75,Disease,Disorder,,0014729,G11.4,616680,C4225250,,,,Autosomal recessive spastic paraplegia type 75,Childhood,Autosomal recessive
459074,Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,Malformation syndrome,Disorder,,0018725,Q04.0,,C5679998,,,,Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,"Infancy, Neonatal",Unknown
459070,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,Malformation syndrome,Disorder,LD90,0018724,Q87.0,300998,C5687848,,,,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,"Infancy, Neonatal",X-linked recessive
458713,NON RARE IN EUROPE: Specific language impairment,Disease,Disorder,,,,,,,,,,,
458718,Idiopathic spontaneous coronary artery dissection,Disease,Disorder,BA82,0007385,I25.4,122455,C5679999,,,10822,Idiopathic spontaneous coronary artery dissection,Adult,Not applicable
458758,Composite hemangioendothelioma,Disease,Disorder,,0018712,D48.1,,C1304513,,,,Composite hemangioendothelioma,All ages,Not applicable
458763,Retiform hemangioendothelioma,Disease,Disorder,,0018713,D48.1,,C1304512,,,,Retiform hemangioendothelioma,"Adolescent, Adult",Not applicable
458768,Papillary intralymphatic angioendothelioma,Disease,Disorder,,0018714,D48.1,,C0346087,,,,Papillary intralymphatic angioendothelioma,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
458775,Congenital hemangioma,Clinical group,Group of disorders,,0018715,,,C0235753,,10018818,,,,
458785,Partially involuting congenital hemangioma,Disease,Disorder,2E81.2Y,0018716,D18.0,,C4733501,,,,Partially involuting congenital hemangioma,Antenatal,Not applicable
458792,Mixed cystic lymphatic malformation,Malformation syndrome,Disorder,,0018717,D18.1,,C5680000,,,,Mixed cystic lymphatic malformation,"Infancy, Neonatal",Not applicable
458798,Spinocerebellar ataxia type 41,Disease,Disorder,,0014626,G11.2,616410,C4225158,,,,Spinocerebellar ataxia type 41,Adult,Autosomal dominant
458803,Spinocerebellar ataxia type 42,Disease,Disorder,,0014776,G11.8,616795,C4225205,,,,Spinocerebellar ataxia type 42,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
458827,OBSOLETE: Vascular tumor with associated anomalies,Category,Group of disorders,,,,,,,,,,,
458830,Rare capillary malformation with associated anomalies,Category,Group of disorders,,,,,C5681120,,,,,,
457485,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,Malformation syndrome,Disorder,,0014716,Q87.0,616638,C4225259,,,13636,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,"Infancy, Neonatal",Autosomal dominant
457265,Progressive myoclonic epilepsy type 9,Disease,Disorder,,0014685,G40.3,616540,C4225289,,,,Progressive myoclonic epilepsy type 9,Childhood,Autosomal recessive
457279,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,Malformation syndrome,Disorder,,0014602,Q87.8,616355,C4225354,,,,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,"Infancy, Neonatal",Autosomal dominant
457252,Squamous cell carcinoma of the oral tongue,Disease,Disorder,,,,,,,,,,,
457260,X-linked intellectual disability-hypotonia-movement disorder syndrome,Disease,Disorder,LD90,0018709,F78.8,300958,C5681121,,,12715,X-linked intellectual disability-hypotonia-movement disorder syndrome,"Adolescent, Childhood",X-linked dominant
457240,X-linked intellectual disability-short stature-overweight syndrome,Malformation syndrome,Disorder,LD90,0010496,Q87.8,300957,C5681122,,,,X-linked intellectual disability-short stature-overweight syndrome,"Adolescent, Childhood, Infancy",X-linked recessive
457246,Clear cell sarcoma of kidney,Disease,Disorder,,0005006,C64,,C0334488,,10009253,,Clear cell sarcoma of kidney,"Adolescent, Adult, Childhood, Infancy",Not applicable
457395,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,Malformation syndrome,Disorder,LD24.3,0014748,Q87.8,616723,C5568882,,,,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
457406,Multiple mitochondrial dysfunctions syndrome type 4,Disease,Disorder,,0014611,E88.8,616370,C4225348,,,,Multiple mitochondrial dysfunctions syndrome type 4,Infancy,Autosomal recessive
457375,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,Disease,Disorder,,0014719,G40.4,616647,C4225256,,,,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,"Infancy, Neonatal",Autosomal recessive
457378,Complex lethal osteochondrodysplasia,Malformation syndrome,Disorder,,0014821,Q78.8,616897,C4225162,,,,Complex lethal osteochondrodysplasia,Antenatal,Autosomal recessive
457359,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,Malformation syndrome,Disorder,LD2C,0018710,Q87.3,617011,C5681123,,,,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,Neonatal,Autosomal recessive
457365,Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0018711,Q87.8,,C5681124,,,,Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,"Infancy, Neonatal",Unknown
457284,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0014605,Q87.0,616362,C4225352,,,,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal dominant
457351,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,Malformation syndrome,Disorder,,0014698,Q02,616577,C4225276,,,,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,"Infancy, Neonatal",Autosomal recessive
457185,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,Disease,Disorder,5C53.2Y,0014562,E88.8,616276,C5568562,,,,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
457083,Isolated splenogonadal fusion,Morphological anomaly,Disorder,,0018703,Q89.0,,C0266636,,,,Isolated splenogonadal fusion,"Antenatal, Neonatal",No data available
457077,TAFRO syndrome,Disease,Disorder,4A4Y,0018702,M35.8,,C4552543,,,,TAFRO syndrome,"Adolescent, Adult, Elderly",Not applicable
457095,Actinomycosis,Disease,Disorder,1C10.3,0005631,A42.2,,C0001261,D000196,10000620,5728,Actinomycosis,All ages,Not applicable
457088,Predisposition to invasive fungal disease due to CARD9 deficiency,Disease,Disorder,,0008905,D84.8,212050,C1859353,,10083959,,Predisposition to invasive fungal disease due to CARD9 deficiency,,Autosomal recessive
457223,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,Disease,Disorder,,0018706,E88.8,617872,C4693450,,,,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,Neonatal,Autosomal recessive
457212,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,Disease,Disorder,,0014559,F78.1,616269,C4225395,,,,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,"Adolescent, Adult",Autosomal recessive
457193,KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome,Malformation syndrome,Disorder,LD90.Y,0014558,Q87.8,616268,C4225396,,,,KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome,"Infancy, Neonatal",Autosomal dominant
457205,Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,Disease,Disorder,,0018705,G60.8,,C5680002,,,,Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,Infancy,Autosomal recessive
456369,Polyglucosan body myopathy type 2,Disease,Disorder,,0014526,E74.0,616199,C4015452,,,,Polyglucosan body myopathy type 2,"Adolescent, Adult, Childhood, Elderly",Autosomal recessive
457059,Pseudohypoparathyroidism with Albright hereditary osteodystrophy,Clinical group,Group of disorders,,,,,C5681125,,,5770,Pseudohypoparathyroidism with Albright hereditary osteodystrophy,"Childhood, Infancy, Neonatal",
457062,Pseudohypoparathyroidism without Albright hereditary osteodystrophy,Clinical group,Group of disorders,,,,,C5681126,,,,,,
457074,Congenital nemaline myopathy,Clinical group,Group of disorders,,,,,C1268589,,,,,,
457050,Autosomal dominant mitochondrial myopathy with exercise intolerance,Disease,Disorder,,0014532,G71.3,616209,C4015513,,,,Autosomal dominant mitochondrial myopathy with exercise intolerance,"Childhood, Infancy",Autosomal dominant
651,NON RARE IN EUROPE: Idiopathic infantile nystagmus,Disease,Disorder,,,,,,,,,,,
317,Erythrokeratodermia variabilis,Disease,Disorder,EC20.0Y,0017851,Q82.8,617526,C0265961,D056266,10049048,,Erythrokeratodermia variabilis,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
103,OBSOLETE: Genetic optic atrophy,Category,Group of disorders,,,,,,,,,,,
629,Short stature due to growth hormone qualitative anomaly,Clinical subtype,Subtype of disorder,5A61.0,0009879,E23.0,262650,C1849779,C537505,,408,Short stature due to growth hormone qualitative anomaly,"Infancy, Neonatal",Autosomal recessive
632,Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,Clinical subtype,Subtype of disorder,4A01.00,0018967,E23.0,307200,C0472813,,,,Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,"Infancy, Neonatal",X-linked recessive
248,Autosomal recessive hypohidrotic ectodermal dysplasia,Etiological subtype,Subtype of disorder,LD27.02,0016619,Q82.4,618535,C0406702,D053360,,2057,Autosomal recessive hypohidrotic ectodermal dysplasia,"Infancy, Neonatal",Autosomal recessive
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,Etiological subtype,Subtype of disorder,LD27.02,0015884,Q82.4,614940,C0265331,,,2048,Autosomal dominant hypohidrotic ectodermal dysplasia,"Infancy, Neonatal",Autosomal dominant
3437,Vogt-Koyanagi-Harada disease,Disease,Disorder,9A96.1,0018092,H30.8,,C0042170,D014607,10082001,7862,Vogt-Koyanagi-Harada disease,All ages,Multigenic/multifactorial
2032,Idiopathic pulmonary fibrosis,Disease,Disorder,CB03.4,,J84.1,619611,C1800706,D054990,10021240,8609,Idiopathic pulmonary fibrosis,Adult,Multigenic/multifactorial
1303,Bronchiolitis obliterans,Clinical group,Group of disorders,CA26.0,,J44.8,,C0006272,,10029888,5961,Bronchiolitis obliterans,All ages,Not applicable
3348,Tracheobronchopathia osteochondroplastica,Disease,Disorder,CA27.0,0008587,J98.0,189961,C0520538,C536977,,5235,Tracheobronchopathia osteochondroplastica,"Adult, Childhood, Elderly",Unknown
2902,Idiopathic chronic eosinophilic pneumonia,Disease,Disorder,CB02.11,0017363,J82,,C2930941,,,1130,Idiopathic chronic eosinophilic pneumonia,All ages,Not applicable
1302,Cryptogenic organizing pneumonia,Disease,Disorder,CB03.2,0015264,J84.1,,C0242770,D018549,10011496,1620,Cryptogenic organizing pneumonia,"Adolescent, Adult, Childhood, Elderly",Not applicable
198,Occipital horn syndrome,Disease,Disorder,LD28.2,0010572,E83.0,304150,C0268353,C537860,,4017,Occipital horn syndrome,"Childhood, Infancy, Neonatal",X-linked recessive
891,Familial exudative vitreoretinopathy,Disease,Disorder,LA13.3,,H35.0,617572,C0339539,D000080345,,1613,Familial exudative vitreoretinopathy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
225,NON RARE IN EUROPE: Maternally-inherited diabetes and deafness,Disease,Disorder,,0010785,,520000,C0342289,C536246,10086189,4003,,,
466677,Scorpion envenomation,Disease,Disorder,NE61,0018755,T63.2,,C0238417,D065008,,,Scorpion envenomation,All ages,Not applicable
466682,Euthyroid Graves orbitopathy,Disease,Disorder,9A20.00,0018756,H05.2,,C5680004,,,,Euthyroid Graves orbitopathy,,Not applicable
466688,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,Malformation syndrome,Disorder,,0014787,Q87.0,616819,C4225193,,,,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,Neonatal,Autosomal recessive
466695,Supratip dysplasia,Morphological anomaly,Disorder,,0018757,J34.8,,C5681127,,,,Supratip dysplasia,Neonatal,Not applicable
466658,Rare disease with malignant hyperthermia,Category,Group of disorders,,,,,C5681128,,,,,,
466667,NON RARE IN EUROPE: Colorectal cancer,Disease,Disorder,,,,,,,,,,,
466670,Cyanide poisoning,Particular clinical situation in a disease or syndrome,Disorder,NE61,0018754,T65.0,,C0238080,,,,Cyanide poisoning,All ages,Not applicable
466673,NON RARE IN EUROPE: Post-herpetic neuralgia,Particular clinical situation in a disease or syndrome,Disorder,,,G53.0,,,,,,,,
466650,Exercise-induced malignant hyperthermia,Disease,Disorder,NF06.0,0018752,T88.3,,C5700399,,,,Exercise-induced malignant hyperthermia,All ages,Multigenic/multifactorial
466962,SMARCA4-deficient sarcoma of thorax,Disease,Disorder,,0018761,C49.3,,C5554190,,,,SMARCA4-deficient sarcoma of thorax,Adult,Not applicable
466950,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,Clinical subtype,Subtype of disorder,,0014741,Q87.8,616708,C5681129,,,,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,"Childhood, Infancy","Autosomal dominant, Not applicable"
466943,WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,Malformation syndrome,Disorder,,0018760,Q87.0,616708,C4225239,,,,WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,"Childhood, Infancy","Autosomal dominant, Not applicable, Unknown"
466926,Seizures-scoliosis-macrocephaly syndrome,Disease,Disorder,,0014731,E77.8,616682,C4225248,,,,Seizures-scoliosis-macrocephaly syndrome,Infancy,Autosomal recessive
466934,VPS11-related autosomal recessive hypomyelinating leukodystrophy,Disease,Disorder,,0014732,G93.8,616683,C5568878,,,,VPS11-related autosomal recessive hypomyelinating leukodystrophy,Infancy,Autosomal recessive
466921,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,Disease,Disorder,,0018759,G71.0,,C5568863,,,,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,Childhood,Autosomal recessive
466806,Autosomal dominant thrombocytopenia with platelet secretion defect,Disease,Disorder,3B64.01,,D69.4,616913,C5568864,,,,Autosomal dominant thrombocytopenia with platelet secretion defect,Childhood,Autosomal dominant
466801,OBSOLETE: LIMS2-related myopathy,Disease,Disorder,,,,,,,,,,,
466794,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,Disease,Disorder,,0014744,G11.0,616719,C5569084,,,,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,Infancy,Autosomal recessive
466791,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,Malformation syndrome,Disorder,,0010501,Q87.8,300967,C5569083,,,,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,Infancy,X-linked recessive
466784,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,Disease,Disorder,,0014775,E88.8,616794,C5569081,,,,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,"Infancy, Neonatal",Autosomal recessive
466775,Autosomal recessive Charcot-Marie-Tooth disease type 2X,Disease,Disorder,8C20.1,0014726,G60.0,616668,C5569024,,,,Autosomal recessive Charcot-Marie-Tooth disease type 2X,"Adolescent, Adult, Childhood",Autosomal recessive
466768,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,Disease,Disorder,,0014736,G60.0,616688,C5569025,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
466732,OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
466729,Familial patent arterial duct,Morphological anomaly,Disorder,LA8B.4,0018758,Q25.0,617039,C5568140,,,,Familial patent arterial duct,,Autosomal dominant
466722,Autosomal recessive spastic paraplegia type 77,Disease,Disorder,,0014882,G11.4,617046,C5569007,,,,Autosomal recessive spastic paraplegia type 77,"Childhood, Infancy",Autosomal recessive
466718,Martinique crinkled retinal pigment epitheliopathy,Disease,Disorder,9B70,0014920,H35.5,617111,C4310713,,,,Martinique crinkled retinal pigment epitheliopathy,Adult,Autosomal dominant
466703,TMEM199-CDG,Disease,Disorder,,0014790,E77.8,616829,C4225190,,,,TMEM199-CDG,"Adolescent, Childhood, Infancy",Autosomal recessive
465824,Fetal encasement syndrome,Malformation syndrome,Disorder,,0013334,Q87.8,613630,C3150891,,,,Fetal encasement syndrome,Antenatal,Autosomal recessive
466084,Genetic otorhinolaryngologic disease,Category,Group of disorders,,,,,C5681130,,,,,,
466066,Genetic hemoglobinopathy,Category,Group of disorders,,,,,C5681131,,,,,,
466026,Class I glucose-6-phosphate dehydrogenase deficiency,Disease,Disorder,3A10.00,0010480,D55.0,300908,C0272056,,,6520,Class I glucose-6-phosphate dehydrogenase deficiency,Neonatal,X-linked recessive
468620,Intellectual disability-epilepsy-extrapyramidal syndrome,Disease,Disorder,,0014952,G93.8,617171,C5568848,,,13474,Intellectual disability-epilepsy-extrapyramidal syndrome,Infancy,Autosomal recessive
468631,Microcephalic cortical malformations-short stature due to RTTN deficiency,Malformation syndrome,Disorder,,0018764,Q02,614833,C3553831,,,,Microcephalic cortical malformations-short stature due to RTTN deficiency,"Infancy, Neonatal",Autosomal recessive
467166,Tubulinopathy-associated dysgyria,Disease,Disorder,,0018763,Q04.8,,C5568850,,,,Tubulinopathy-associated dysgyria,Infancy,"Autosomal dominant, Not applicable"
467176,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,Disease,Disorder,8C72.Y,0014784,G71.2,616816,C5568849,,,,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,Neonatal,Autosomal recessive
468635,Cryptogenic multifocal ulcerous stenosing enteritis,Disease,Disorder,DA94.02,0018765,K63.3,,C4302263,,,,Cryptogenic multifocal ulcerous stenosing enteritis,"Adolescent, Adult, Childhood",Autosomal recessive
468641,Chronic enteropathy associated with SLCO2A1 gene,Disease,Disorder,DA94.01,0018766,K63.8,,C5568838,,,,Chronic enteropathy associated with SLCO2A1 gene,"Adolescent, Adult, Childhood",Autosomal recessive
468661,Autosomal recessive spastic paraplegia type 74,Disease,Disorder,,0014644,G11.4,616451,C5568837,,,,Autosomal recessive spastic paraplegia type 74,Childhood,Autosomal recessive
468666,Isolated generalized anhidrosis with normal sweat glands,Disease,Disorder,,7118,L98.8,106190,C5568836,,,,Isolated generalized anhidrosis with normal sweat glands,Neonatal,Autosomal recessive
468678,White-Sutton syndrome,Disease,Disorder,,0014606,Q87.0,616364,C4225351,,,,White-Sutton syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
468684,CCDC115-CDG,Disease,Disorder,,0014789,E77.8,616828,C4225191,,,,CCDC115-CDG,"Infancy, Neonatal",Autosomal recessive
468672,Colobomatous macrophthalmia-microcornea syndrome,Disease,Disorder,LA10.Y,0011239,Q15.8,602499,C1865286,C566533,,,Colobomatous macrophthalmia-microcornea syndrome,"Adolescent, Childhood, Elderly, Infancy",Autosomal dominant
468726,Severe primary trimethylaminuria,Disease,Disorder,,0018767,E88.8,602079,C5575503,,,6447,Severe primary trimethylaminuria,"Childhood, Infancy",Autosomal recessive
468699,SLC39A8-CDG,Disease,Disorder,,0014746,E77.8,616721,C4225234,,,,SLC39A8-CDG,Neonatal,Autosomal recessive
468717,Rhizomelic chondrodysplasia punctata type 5,Etiological subtype,Subtype of disorder,LD24.04,0014743,Q77.3,616716,C4225237,,,,Rhizomelic chondrodysplasia punctata type 5,"Infancy, Neonatal",Autosomal recessive
401785,Autosomal recessive spastic paraplegia type 62,Disease,Disorder,8B44.01,0014302,G11.4,615681,C4284588,,,17657,Autosomal recessive spastic paraplegia type 62,"Childhood, Infancy",Autosomal recessive
401780,Autosomal recessive spastic paraplegia type 61,Disease,Disorder,8B44.01,0014304,G11.4,615685,C3810294,,,17656,Autosomal recessive spastic paraplegia type 61,Infancy,Autosomal recessive
401800,Autosomal recessive spastic paraplegia type 60,Disease,Disorder,8B44.01,0018417,G11.4,,C5190589,,,21696,Autosomal recessive spastic paraplegia type 60,Infancy,Autosomal recessive
401795,Autosomal recessive spastic paraplegia type 59,Disease,Disorder,8B44.01,0018416,G11.4,,C4750857,,,21695,Autosomal recessive spastic paraplegia type 59,Infancy,Autosomal recessive
401768,Proximal myopathy with extrapyramidal signs,Disease,Disorder,,0014300,G71.3,615673,C4749430,,,12978,Proximal myopathy with extrapyramidal signs,"Childhood, Infancy",Autosomal recessive
401764,Pancytopenia-developmental delay syndrome,Disease,Disorder,3A70.0,0014317,D61.0,615715,C4751507,,,,Pancytopenia-developmental delay syndrome,Adolescent,Autosomal recessive
401777,Optic atrophy-intellectual disability syndrome,Disease,Disorder,9C40.B0,0014320,H47.2,615722,C3810363,,10083269,,Optic atrophy-intellectual disability syndrome,Neonatal,Autosomal dominant
401825,Autosomal recessive spastic paraplegia type 68,Disease,Disorder,,,,,,,,,,,
401830,Autosomal recessive spastic paraplegia type 69,Disease,Disorder,8B44.01,0018421,G11.4,,C5190577,,,21699,Autosomal recessive spastic paraplegia type 69,Infancy,Autosomal recessive
401835,Autosomal recessive spastic paraplegia type 70,Disease,Disorder,8B44.01,0018422,G11.4,620323,C4749431,,,21700,Autosomal recessive spastic paraplegia type 70,Infancy,Autosomal recessive
401840,Autosomal recessive spastic paraplegia type 71,Disease,Disorder,8B44.01,0018423,G11.4,,C5190578,,,,Autosomal recessive spastic paraplegia type 71,Infancy,Autosomal recessive
401805,Autosomal recessive spastic paraplegia type 63,Disease,Disorder,8B44.01,0014305,G11.4,615686,C3810295,,,17658,Autosomal recessive spastic paraplegia type 63,Infancy,Autosomal recessive
401810,Autosomal recessive spastic paraplegia type 64,Disease,Disorder,8B44.01,0014303,G11.4,615683,C3810289,,,17659,Autosomal recessive spastic paraplegia type 64,"Childhood, Infancy",Autosomal recessive
401815,Autosomal recessive spastic paraplegia type 66,Disease,Disorder,8B44.01,0018418,G11.4,,C5190590,,,21697,Autosomal recessive spastic paraplegia type 66,Infancy,Autosomal recessive
401820,Autosomal recessive spastic paraplegia type 67,Disease,Disorder,8B44.01,0018419,G11.4,615802,C4707829,,,21698,Autosomal recessive spastic paraplegia type 67,"Childhood, Infancy",Autosomal recessive
401866,Childhood-onset spasticity with hyperglycinemia,Disease,Disorder,,0014803,E88.8,616859,C4225178,,,,Childhood-onset spasticity with hyperglycinemia,Childhood,Autosomal recessive
401869,Multiple mitochondrial dysfunctions syndrome type 1,Disease,Disorder,5C53.21,0011582,E88.8,605711,C3276432,,,,Multiple mitochondrial dysfunctions syndrome type 1,Neonatal,Autosomal recessive
401874,Multiple mitochondrial dysfunctions syndrome type 2,Disease,Disorder,5C53.21,0013675,E88.8,614299,C3280378,,,,Multiple mitochondrial dysfunctions syndrome type 2,Neonatal,Autosomal recessive
401849,Autosomal spastic paraplegia type 72,Disease,Disorder,8B44.01,0014282,G11.4,615625,C3810160,,,,Autosomal spastic paraplegia type 72,Childhood,"Autosomal dominant, Autosomal recessive"
401854,Lipoic acid biosynthesis defect,Category,Group of disorders,,0018424,,,C5680006,,,12679,Lipoic acid biosynthesis defect,"Childhood, Neonatal",Autosomal recessive
401859,Lipoic acid synthetase deficiency,Disease,Disorder,,0013762,E88.8,614462,C5190587,,,12678,Lipoic acid synthetase deficiency,Neonatal,Autosomal recessive
401862,Lipoyl transferase 1 deficiency,Disease,Disorder,,0014576,E88.8,616299,C5190588,,,,Lipoyl transferase 1 deficiency,"Infancy, Neonatal",Autosomal recessive
400008,Rare genetic female infertility,Category,Group of disorders,,,,,C5681132,,,,,,
400003,Rare genetic disorder with obstructive azoospermia,Category,Group of disorders,,,,,C5680007,,,,,,
399998,Male infertility due to obstructive azoospermia of genetic origin,Category,Group of disorders,,,,,C5680008,,,,,,
399994,Rare male infertility due to adrenal disorder of genetic origin,Category,Group of disorders,,,,,C5681133,,,,,,
399983,Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,Category,Group of disorders,,,,,C5680009,,,,,,
399980,Rare genetic male infertility,Category,Group of disorders,,,,,C5681134,,,,,,
399882,Rare female infertility due to an implantation defect,Category,Group of disorders,,,,,C5681135,,,,,,
399877,Rare female infertility due to gonadal dysgenesis,Category,Group of disorders,,,,,C5680010,,,,,,
400025,Female infertility due to an implantation defect of genetic origin,Category,Group of disorders,,,,,C5681136,,,,,,
400022,Rare female infertility due to an anomaly of ovarian function of genetic origin,Category,Group of disorders,,,,,C5681137,,,,,,
400018,Rare female infertility due to adrenal disorder of genetic origin,Category,Group of disorders,,,,,C5681138,,,,,,
400011,Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin,Category,Group of disorders,,,,,C5680011,,,,,,
402823,Hepatitis delta,Disease,Disorder,1E51.2,0005789,B17.0,,C0011226,D003699,10019762,,Hepatitis delta,All ages,Not applicable
401920,Fibrolamellar hepatocellular carcinoma,Disease,Disorder,2C12.02,0006210,C22.0,,C0334287,C537258,,,Fibrolamellar hepatocellular carcinoma,"Adolescent, Adult",Not applicable
401911,AXIN2-related polyposis,Disease,Disorder,2B90.Y,0018426,D12.6,608615,C5680012,,,,AXIN2-related polyposis,Adult,Autosomal dominant
401901,Huntington disease-like syndrome due to C9ORF72 expansions,Disease,Disorder,,0018425,G10,,C5190586,,,,Huntington disease-like syndrome due to C9ORF72 expansions,Adult,Autosomal dominant
401942,Familial median cleft of the upper and lower lips,Malformation syndrome,Disorder,,0014388,Q36.1,615892,C4305376,,,,Familial median cleft of the upper and lower lips,Neonatal,Unknown
401935,14q24.1q24.3 microdeletion syndrome,Malformation syndrome,Disorder,,0018429,Q93.5,,C4750911,,,,14q24.1q24.3 microdeletion syndrome,Neonatal,Unknown
401923,9q31.1q31.3 microdeletion syndrome,Malformation syndrome,Disorder,,0018428,Q93.5,,C4750910,,,,9q31.1q31.3 microdeletion syndrome,Neonatal,Unknown
401959,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,Malformation syndrome,Disorder,,0018430,Q04.3,,C4750913,,,,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,Neonatal,Autosomal recessive
401953,Episodic ataxia with slurred speech,Disease,Disorder,,0014476,G11.8,616055,C4015108,,,,Episodic ataxia with slurred speech,Infancy,Autosomal dominant
401948,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,Disease,Disorder,,0014332,E74.8,615751,C4706871,,,13201,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
401945,Moyamoya disease with early-onset achalasia,Disease,Disorder,DA21.0,0014331,K22.0,615750,C4305378,,,,Moyamoya disease with early-onset achalasia,"Infancy, Neonatal",Autosomal recessive
401986,1p31p32 microdeletion syndrome,Malformation syndrome,Disorder,,0013396,Q93.5,613735,C4707828,,,,1p31p32 microdeletion syndrome,Neonatal,Unknown
401979,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",Malformation syndrome,Disorder,LD24.4,0013223,Q77.8,613320,C5190608,,,,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",Antenatal,Autosomal recessive
401973,MEND syndrome,Malformation syndrome,Disorder,,0010498,Q87.8,300960,C4085243,,,,MEND syndrome,"Infancy, Neonatal",X-linked recessive
401964,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,Disease,Disorder,,0012411,G60.0,610100,C5190585,,,12447,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,"Childhood, Infancy",Autosomal dominant
402003,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,Disease,Disorder,,0014327,Q82.8,615735,C5190822,,,,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,Childhood,Autosomal dominant
402007,Lichen myxedematosus,Clinical group,Group of disorders,EB90.1,0018432,,,C5848049,,10055046,,Lichen myxedematosus,"Adult, Infancy",
401993,Cold-induced sweating syndrome-hyperthermia spectrum,Clinical group,Group of disorders,,0018431,,,C5681139,,,,Cold-induced sweating syndrome-hyperthermia spectrum,,Autosomal recessive
401996,Karyomegalic interstitial nephritis,Disease,Disorder,GB55.Y,0013898,N11.8,614817,C3553774,,,11003,Karyomegalic interstitial nephritis,Adult,Autosomal recessive
402017,Acute myeloid leukemia with t(9;11)(p22;q23),Disease,Disorder,,0018434,C92.0,,C2919692,,,,,,
402020,Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2),Disease,Disorder,,0018435,C92.0,,C2826172,,,12759,,,
402014,Acute myeloid leukemia with t(6;9)(p23;q34),Disease,Disorder,,0018433,C92.0,,C4518837,,,,,,
402029,Primary eosinophilic gastrointestinal disease,Clinical group,Group of disorders,,0018438,,,C5680014,,,,,,
402035,Eosinophilic colitis,Disease,Disorder,DB33.2Y,0018439,K52.8,,C0267448,,10057271,,Eosinophilic colitis,"Adult, Infancy",
402023,Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),Disease,Disorder,,0018436,C94.2,,C4706584,,,,,,
402026,Acute myeloid leukemia with NPM1 somatic mutations,Disease,Disorder,,0018437,C92.0,,C4706386,,,,Acute myeloid leukemia with NPM1 somatic mutations,,Not applicable
402082,Progressive myoclonic epilepsy type 5,Disease,Disorder,,,G40.3,607459,C5190799,,,,Progressive myoclonic epilepsy type 5,Adolescent,Autosomal dominant
402364,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,Malformation syndrome,Disorder,,0013351,Q04.3,613668,C4749432,,,10995,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,Infancy,Autosomal recessive
402041,Autosomal recessive distal renal tubular acidosis,Clinical subtype,Subtype of disorder,,0018440,N25.8,602722,C1864498,C537758,,4666,Autosomal recessive distal renal tubular acidosis,"Childhood, Infancy",Autosomal recessive
402075,Familial bicuspid aortic valve,Morphological anomaly,Disorder,LA8A.22,0007194,Q23.1,618496,C4749284,,,,Familial bicuspid aortic valve,"Infancy, Neonatal",Autosomal dominant
806,Scott syndrome,Disease,Disorder,3B62.Y,0009885,D69.8,262890,C0796149,C563120,,4777,Scott syndrome,All ages,Autosomal recessive
404580,Polyarticular juvenile idiopathic arthritis,Clinical group,Group of disorders,,0018456,,,C4521004,,,,,,
404584,Rare genetic bone development disorder,Category,Group of disorders,,,,,C5680015,,,,,,
404469,Rare female infertility due to oocyte maturation defect,Category,Group of disorders,,,,,C5681140,,,,,,
404473,Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome,Malformation syndrome,Disorder,,0014035,G80.1,615075,C5190576,,,3505,Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome,Infancy,Unknown
404463,Multisystemic smooth muscle dysfunction syndrome,Disease,Disorder,BD50.Z,0013452,I73.8,613834,C3151201,,,12811,Multisystemic smooth muscle dysfunction syndrome,Infancy,Unknown
404466,Female infertility due to zona pellucida defect,Disease,Disorder,GA31.0Y,0014342,N97.8,615774,C4749433,,,,Female infertility due to zona pellucida defect,Adult,"Autosomal dominant, Autosomal recessive"
404451,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,Malformation syndrome,Disorder,,0018443,Q87.8,,C4751506,,,,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,Neonatal,Autosomal recessive
404454,Alacrimia-choreoathetosis-liver dysfunction syndrome,Disease,Disorder,,0800044,E77.8,615273,C3808991,C000626124,,12315,Alacrimia-choreoathetosis-liver dysfunction syndrome,"Infancy, Neonatal",Autosomal recessive
404443,Tatton-Brown-Rahman syndrome,Malformation syndrome,Disorder,LD2C,0014382,Q87.3,615879,C4014545,,,,Tatton-Brown-Rahman syndrome,Neonatal,Autosomal dominant
404448,Helsmoortel-Van der Aa syndrome,Malformation syndrome,Disorder,,0014379,Q87.0,615873,C4014538,,10083856,12931,Helsmoortel-Van der Aa syndrome,"Childhood, Infancy",Unknown
404437,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,Malformation syndrome,Disorder,,0014335,G98,615760,C5190583,,,,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,"Infancy, Neonatal",Autosomal recessive
404440,OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency,Malformation syndrome,Disorder,,,,,,,,,,,
404577,Genetic syndrome with limb malformations as a major feature,Category,Group of disorders,,,,,C5681141,,,,,,
404574,Genetic syndrome with limb reduction defects,Category,Group of disorders,,,,,C5681142,,,,,,
404571,Dysostosis of genetic origin with limb anomaly as a major feature,Category,Group of disorders,,,,,C5681143,,,,,,
404568,Dysostosis of genetic origin,Category,Group of disorders,,,,,C5681144,,,,,,
404560,Familial atypical multiple mole melanoma syndrome,Disease,Disorder,,0018453,C43.9,606719,C2314896,,,9281,Familial atypical multiple mole melanoma syndrome,All ages,Autosomal dominant
404553,Deficiency of adenosine deaminase 2,Disease,Disorder,4A60.Y,0014306,M30.8,615688,C4749403,,,12383,Deficiency of adenosine deaminase 2,"Childhood, Infancy",Autosomal recessive
404546,DITRA,Disease,Disorder,4A00.Y,0013626,L40.1,614204,C4759670,,10079451,,DITRA,All ages,Autosomal recessive
404538,X-linked distal hereditary motor neuropathy,Category,Group of disorders,,,,,C5548214,,,,,,
404521,Spinal muscular atrophy with respiratory distress type 2,Disease,Disorder,,0018450,G12.2,,C4749434,,,,Spinal muscular atrophy with respiratory distress type 2,Neonatal,Unknown
404514,Acquired cystic disease-associated renal cell carcinoma,Disease,Disorder,,0018449,C64,,C4707179,,,,Acquired cystic disease-associated renal cell carcinoma,"Adult, Elderly",
404511,Clear cell papillary renal cell carcinoma,Histopathological subtype,Subtype of disorder,,0018448,C64,,C4518333,,10085663,,,,
404507,Chondromyxoid fibroma,Disease,Disorder,,0018447,D16.9,,C0221290,,,,Chondromyxoid fibroma,"Adolescent, Adult, Childhood, Elderly",Not applicable
404499,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,Disease,Disorder,,0014311,G11.1,615705,C3810326,,,,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,Infancy,Autosomal recessive
404493,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,Disease,Disorder,,0014846,G11.1,616949,C4750914,,,,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,"Childhood, Infancy",Autosomal recessive
404481,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome,Clinical group,Group of disorders,,0018446,,,C5681145,,,,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome,,Autosomal recessive
404476,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,Malformation syndrome,Disorder,LD2C,0018445,Q87.3,618272,C4748924,,,,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,Infancy,Not applicable
411527,Central retinal vein occlusion,Particular clinical situation in a disease or syndrome,Disorder,9B74.1,0002303,H34.8,,C0154841,,10007972,,Central retinal vein occlusion,"Adult, Elderly",Not applicable
411533,NON RARE IN EUROPE: Melanoma,Disease,Disorder,,,,,,,,,,,
411536,Mild phosphoribosylpyrophosphate synthetase superactivity,Clinical subtype,Subtype of disorder,5C55.0Y,0018463,E79.8,300661,C5680016,,,,Mild phosphoribosylpyrophosphate synthetase superactivity,"Adolescent, Adult",X-linked recessive
411543,Severe phosphoribosylpyrophosphate synthetase superactivity,Clinical subtype,Subtype of disorder,5C55.0Y,0018464,E79.8,300661,C5680017,,,,Severe phosphoribosylpyrophosphate synthetase superactivity,"Childhood, Infancy, Neonatal",X-linked recessive
411590,Wolfram-like syndrome,Disease,Disorder,,0013673,E34.8,614296,C4518338,,,,Wolfram-like syndrome,Childhood,Autosomal dominant
411593,Insulin autoimmune syndrome,Disease,Disorder,5A4Y,0018465,E16.1,,C0854359,,10022472,10808,Insulin autoimmune syndrome,"Adult, Elderly",Not applicable
411602,Hereditary late-onset Parkinson disease,Disease,Disorder,,0008199,G20,614203,C4274355,,,,Hereditary late-onset Parkinson disease,"Adult, Elderly",Autosomal dominant
411629,Infantile nephropathic cystinosis,Clinical subtype,Subtype of disorder,5C60.1,0018467,N16.3*,219800,C3537440,C565655,,,Infantile nephropathic cystinosis,Infancy,Autosomal recessive
411493,Pontocerebellar hypoplasia type 10,Malformation syndrome,Disorder,,0014349,Q04.3,615803,C5190575,,,,Pontocerebellar hypoplasia type 10,Neonatal,Autosomal recessive
411501,Williams-Campbell syndrome,Morphological anomaly,Disorder,LA74.Y,0008888,Q33.4,,C0340231,,,,Williams-Campbell syndrome,"Adult, Childhood",Not applicable
411511,Angelman syndrome due to a point mutation,Etiological subtype,Subtype of disorder,LD90.0,0018461,Q93.5,105830,C5681146,,,,Angelman syndrome due to a point mutation,Infancy,Not applicable
411515,Angelman syndrome due to imprinting defect in 15q11-q13,Etiological subtype,Subtype of disorder,LD90.0,0018462,Q93.5,,C5681834,,,,Angelman syndrome due to imprinting defect in 15q11-q13,Infancy,Not applicable
411777,Generalized eruptive keratoacanthoma,Disease,Disorder,2C31.1,0018471,L85.8,,C0345985,,,,Generalized eruptive keratoacanthoma,"Adult, Elderly",Not applicable
411712,Maternal riboflavin deficiency,Disease,Disorder,,0014013,P00.4,615026,C4750953,,,,Maternal riboflavin deficiency,Adult,Autosomal dominant
411788,Familial isolated trichomegaly,Disease,Disorder,LD27.0Y,0018472,Q84.2,190330,C4706941,,,,Familial isolated trichomegaly,Neonatal,Autosomal recessive
411986,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0014371,G40.4,615859,C4750952,,,,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,Infancy,Autosomal recessive
411969,NON RARE IN EUROPE: Metabolic syndrome,Clinical syndrome,Disorder,,,,,,,,,,,
412035,13q12.3 microdeletion syndrome,Malformation syndrome,Disorder,,0018474,Q93.5,,C4750951,,,,13q12.3 microdeletion syndrome,Neonatal,Unknown
412022,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,Malformation syndrome,Disorder,LD21.Y,0011106,Q87.0,601552,C1832167,,,,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,"Adolescent, Childhood",Autosomal recessive
411641,Ocular cystinosis,Clinical subtype,Subtype of disorder,,0009064,E72.0,219750,C2931013,C535765,,,Ocular cystinosis,Adult,Autosomal recessive
411634,Juvenile nephropathic cystinosis,Clinical subtype,Subtype of disorder,5C60.1,0009066,N16.3*,219900,C0268626,C562683,,,Juvenile nephropathic cystinosis,"Adolescent, Childhood",Autosomal recessive
411696,OBSOLETE: Proton-pump inhibitor-responsive esophageal eosinophilia,Disease,Disorder,,,,,,,,,,,
411709,Renal agenesis,Morphological anomaly,Disorder,LB30.00,0018470,Q60.1,615721,C0542519,,10064655,9228,Renal agenesis,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
411703,Pulmonary non-tuberculous mycobacterial infection,Disease,Disorder,1B21.0,0018469,A31.0,,C3472679,,,12829,Pulmonary non-tuberculous mycobacterial infection,All ages,Not applicable
376724,Generalized isolated dystonia,Category,Group of disorders,,,,,C5681147,,,,,,
371445,Genetic syndromic esophageal malformation,Category,Group of disorders,,,,,C5681148,,,,,,
371861,Genetic hyperaldosteronism,Category,Group of disorders,,,,,C5681149,,,,,,
371235,Congenital disorder of glycosylation with developmental anomaly,Category,Group of disorders,,,,,C5680018,,,,,,
371207,Congenital disorder of glycosylation with nephropathy as a major feature,Category,Group of disorders,,,,,C5680019,,,,,,
371200,Congenital disorder of glycosylation with skin involvement,Category,Group of disorders,,,,,C5680020,,,,,,
371212,Congenital disorder of glycosylation with deafness as a major feature,Category,Group of disorders,,,,,C5680021,,,,,,
371436,Genetic neurovascular malformation,Category,Group of disorders,,,,,C5681150,,,,,,
371433,Genetic periodic paralysis,Category,Group of disorders,8C74.1,,,,C5681151,,,,,,
371442,Sphingolipidosis with epilepsy,Category,Group of disorders,,,,,C5681152,,,,,,
371439,OBSOLETE: Genetic cerebrovascular dementia,Category,Group of disorders,,,,,,,,,,,
371428,Multicentric osteolysis-nodulosis-arthropathy spectrum,Disease,Disorder,,0018298,M89.5,277950,C1850155,,,,Multicentric osteolysis-nodulosis-arthropathy spectrum,"Childhood, Infancy",Autosomal recessive
371364,Hypotonia-speech impairment-severe cognitive delay syndrome,Disease,Disorder,,0014176,Q87.8,615419,C4706556,,,,Hypotonia-speech impairment-severe cognitive delay syndrome,"Infancy, Neonatal",Autosomal recessive
391711,Persistent combined dystonia,Clinical group,Group of disorders,,,,,C5681153,,,,,,
391673,Necrotizing enterocolitis,Disease,Disorder,KB88,0005313,P77,,C0520459,D020345,,9767,Necrotizing enterocolitis,Neonatal,Not applicable
391677,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,Malformation syndrome,Disorder,,0013889,Q87.1,614800,C3541319,,,10945,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,"Infancy, Neonatal",Autosomal recessive
391723,Mucinous adenocarcinoma of the appendix,Disease,Disorder,2B81.00,0018330,C18.1,,C1706832,,10073361,,Mucinous adenocarcinoma of the appendix,"Adult, Elderly",
391799,Rare genetic dystonia,Category,Group of disorders,,,,,C5680022,,,,,,
391479,OBSOLETE: Syndromic frontonasal dysplasia,Category,Group of disorders,,,,,,,,,,,
391474,Frontorhiny,Malformation syndrome,Disorder,LD25.3,0007636,Q75.8,136760,C5574965,,,,Frontorhiny,Neonatal,Autosomal recessive
391504,Transient neonatal myasthenia gravis,Clinical subtype,Subtype of disorder,KB08.0,0018326,P94.0,,C0495465,,,,Transient neonatal myasthenia gravis,"Antenatal, Neonatal",Not applicable
391497,Juvenile myasthenia gravis,Clinical subtype,Subtype of disorder,8C60,0018325,G70.0,,C5680023,,,,Juvenile myasthenia gravis,"Adolescent, Childhood, Infancy, Neonatal",Not applicable
391490,Adult-onset myasthenia gravis,Clinical subtype,Subtype of disorder,8C60,0018324,G70.0,,C5680024,,,,Adult-onset myasthenia gravis,Adult,"Multigenic/multifactorial, Not applicable"
391487,STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,Disease,Disorder,,0013599,K63.9,614162,C5925149,,,12314,STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,Infancy,Autosomal dominant
391646,Feingold syndrome type 2,Clinical subtype,Subtype of disorder,LD2F.1Y,0013691,Q87.8,614326,C3280489,,,,Feingold syndrome type 2,"Antenatal, Neonatal",Autosomal dominant
391641,Feingold syndrome type 1,Clinical subtype,Subtype of disorder,LD2F.1Y,0008115,Q87.8,164280,C4551774,,,,Feingold syndrome type 1,"Antenatal, Neonatal",Autosomal dominant
391665,Homozygous familial hypercholesterolemia,Disease,Disorder,5C80.00,0018328,E78.0,144010,C0342881,D000090542,10057080,10416,Homozygous familial hypercholesterolemia,Neonatal,"Autosomal dominant, Autosomal recessive"
391658,OBSOLETE: Cowpox infection,Disease,Disorder,,,,,,,,,,,
391655,Off-periods in Parkinson disease not responding to oral treatment,Particular clinical situation in a disease or syndrome,Disorder,,,G20,,C5681154,,,,Off-periods in Parkinson disease not responding to oral treatment,"Adult, Elderly",Not applicable
391651,Glomus tumor,Disease,Disorder,2E81.0Z,0018327,D18.0,,C0017653,D005918,10018381,,Glomus tumor,All ages,
391343,Fatal post-viral neurodegenerative disorder,Disease,Disorder,,0018316,G04.8,,C4751597,,,,Fatal post-viral neurodegenerative disorder,Childhood,Autosomal recessive
391348,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,Disease,Disorder,,0014261,E88.8,615578,C4751596,,,,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,"Infancy, Neonatal",Autosomal recessive
391351,SURF1-related Charcot-Marie-Tooth disease type 4,Disease,Disorder,,0014733,G60.0,616684,C4225246,,,,SURF1-related Charcot-Marie-Tooth disease type 4,Childhood,Autosomal recessive
391366,Growth retardation-mild developmental delay-chronic hepatitis syndrome,Disease,Disorder,DB97.Y,0018317,K73.8,,C4751595,,,,Growth retardation-mild developmental delay-chronic hepatitis syndrome,"Infancy, Neonatal",Autosomal recessive
391372,FOXP1 Syndrome,Malformation syndrome,Disorder,,0013352,Q87.0,613670,C5925034,,,12501,FOXP1 Syndrome,"Infancy, Neonatal",Autosomal dominant
391376,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,Disease,Disorder,,0014258,E72.8,615574,C3809971,,,,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,"Infancy, Neonatal",Autosomal recessive
391381,Disorder of asparagine metabolism,Category,Group of disorders,,,,,C5681155,,,,,,
391384,Familial episodic pain syndrome,Disease,Disorder,MG31.Y,0018319,M79.6,615552,C5190598,,,12684,Familial episodic pain syndrome,"Infancy, Neonatal",Autosomal dominant
391389,Familial episodic pain syndrome with predominantly upper body involvement,Clinical subtype,Subtype of disorder,MG31.Y,0014021,M79.6,615040,C3808667,,,,Familial episodic pain syndrome with predominantly upper body involvement,"Infancy, Neonatal",Autosomal dominant
391392,Familial episodic pain syndrome with predominantly lower limb involvement,Clinical subtype,Subtype of disorder,MG31.Y,0014247,M79.6,615552,C3809899,,,,Familial episodic pain syndrome with predominantly lower limb involvement,"Infancy, Neonatal",Autosomal dominant
391397,Hereditary sensory and autonomic neuropathy type 7,Disease,Disorder,,0014244,G60.8,615548,C3809882,,,12732,Hereditary sensory and autonomic neuropathy type 7,"Infancy, Neonatal",Autosomal dominant
391408,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,Disease,Disorder,,0018320,Q87.8,616817,C5190597,,,,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,"Adolescent, Childhood",Autosomal recessive
391411,Atypical juvenile parkinsonism,Disease,Disorder,,0018321,G20,615530,C4510873,,,,Atypical juvenile parkinsonism,"Adolescent, Adult","Autosomal recessive, Not applicable"
391417,HSD10 disease,Disease,Disorder,5C52.01,0010327,E72.8,300438,C3266731,C564560,,10716,HSD10 disease,"Childhood, Infancy, Neonatal",X-linked dominant
391428,"HSD10 disease, infantile type",Clinical subtype,Subtype of disorder,5C52.01,0018322,E72.8,300438,C5680025,,,,"HSD10 disease, infantile type","Infancy, Neonatal",X-linked dominant
391457,"HSD10 disease, neonatal type",Clinical subtype,Subtype of disorder,5C52.01,0018323,E72.8,300438,C5680026,,,,"HSD10 disease, neonatal type","Infancy, Neonatal",X-linked dominant
391307,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0014238,Q87.8,615541,C4750851,,,,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
391316,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,Disease,Disorder,,0018314,G40.2,,C4750853,,,,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,"Infancy, Neonatal",Autosomal recessive
391311,Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,Disease,Disorder,,0013427,D84.8,613796,C4755296,,,,Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,,Autosomal recessive
391327,X-linked calvarial hyperostosis,Disease,Disorder,FB80.3,0010541,M85.2,302030,C5190611,,,1058,X-linked calvarial hyperostosis,"Infancy, Neonatal",X-linked recessive
391320,East Texas bleeding disorder,Etiological subtype,Subtype of disorder,3B14.Z,0011615,D68.2,605913,C4750854,,,,East Texas bleeding disorder,Childhood,Autosomal dominant
391330,X-linked osteoporosis with fractures,Disease,Disorder,LD24.KY,0018315,M80.5,300910,C5190610,,,,X-linked osteoporosis with fractures,Childhood,X-linked recessive
398063,Refractory celiac disease,Disease,Disorder,DA95,0018353,K90.0,,C4749333,,,,Refractory celiac disease,All ages,Not applicable
398058,Squamous cell carcinoma of the penis,Disease,Disorder,2C81.0,0018352,C60.1,,C0238348,,10059631,,Squamous cell carcinoma of the penis,Elderly,
398053,Adenocarcinoma of the penis,Disease,Disorder,,,C60.0,,C2212153,,,,Adenocarcinoma of the penis,Elderly,
398043,Malignant tumor of penis,Category,Group of disorders,,0001325,C60,,C0153601,D010412,10034299,9366,Malignant tumor of penis,Elderly,
397973,Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,Disease,Disorder,,0011722,Q87.8,606772,C1847522,C564660,,,Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,Neonatal,Autosomal recessive
397968,Charcot-Marie-Tooth disease type 2R,Disease,Disorder,,0014208,G60.0,615490,C3809655,,,,Charcot-Marie-Tooth disease type 2R,Infancy,Autosomal recessive
397964,Combined immunodeficiency due to MALT1 deficiency,Disease,Disorder,,0014197,D81.8,615468,C4750906,,,,Combined immunodeficiency due to MALT1 deficiency,Infancy,Autosomal recessive
397959,TCR-alpha-beta-positive T-cell deficiency,Disease,Disorder,,0014160,D81.8,615387,C5190592,,,,TCR-alpha-beta-positive T-cell deficiency,Infancy,Autosomal recessive
397951,Microcephaly-thin corpus callosum-intellectual disability syndrome,Disease,Disorder,,0014273,Q87.8,615599,C4749429,,,,Microcephaly-thin corpus callosum-intellectual disability syndrome,Infancy,Autosomal recessive
397946,Autosomal spastic paraplegia type 58,Disease,Disorder,,0012651,G11.4,611302,C1969796,,,,Autosomal spastic paraplegia type 58,"Adolescent, Adult, Childhood, Elderly, Infancy","Autosomal dominant, Autosomal recessive"
397941,MAN1B1-CDG,Disease,Disorder,,0018349,E77.8,,C4518783,,,12417,MAN1B1-CDG,"Childhood, Infancy",Autosomal recessive
397937,Polyglucosan body myopathy type 1,Disease,Disorder,5C51.3,0014389,E74.0,615895,C4014605,,,,Polyglucosan body myopathy type 1,"Adolescent, Childhood",Autosomal recessive
397933,Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,Disease,Disorder,,0018347,Q87.8,309530,C2931498,,,13221,Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,"Infancy, Neonatal",X-linked recessive
397927,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,Malformation syndrome,Disorder,,0014314,Q87.5,615709,C4751569,,,,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,"Antenatal, Neonatal",Autosomal recessive
397922,Ferro-cerebro-cutaneous syndrome,Disease,Disorder,5C64.10,0018346,G31.8,301072,C4751570,,,,Ferro-cerebro-cutaneous syndrome,Infancy,X-linked recessive
397787,Combined immunodeficiency due to IKBKB deficiency,Disease,Disorder,4A01.1Y,0014267,D81.8,615592,C5190593,,,,Combined immunodeficiency due to IKBKB deficiency,Infancy,Autosomal recessive
397802,T+ B+ severe combined immunodeficiency,Clinical group,Group of disorders,,0044201,,,C5681156,,,,,,
397755,Periodic paralysis with transient compartment-like syndrome,Disease,Disorder,,0018344,G72.3,,C4751572,,,,Periodic paralysis with transient compartment-like syndrome,All ages,Autosomal dominant
397758,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,Disease,Disorder,9B70,0014483,H35.5,616079,C4751571,,,,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,Adult,Autosomal dominant
397744,MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,Disease,Disorder,,0013711,G60.0,614369,C5190594,,,,MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,Childhood,Autosomal dominant
397750,Periodic paralysis with later-onset distal motor neuropathy,Disease,Disorder,,0018343,G72.3,500010,C4751573,,,,Periodic paralysis with later-onset distal motor neuropathy,"Adolescent, Adult",Mitochondrial inheritance
397725,COASY protein-associated neurodegeneration,Disease,Disorder,,0014290,G23.0,615643,C4517377,,,12571,COASY protein-associated neurodegeneration,Childhood,Autosomal recessive
397735,Autosomal dominant Charcot-Marie-Tooth disease type 2U,Disease,Disorder,,0014566,G60.0,616280,C4084821,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2U,Adult,Autosomal dominant
397709,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,Malformation syndrome,Disorder,,0014601,Q87.8,616354,C5190595,,,,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,Infancy,Autosomal recessive
397715,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,Malformation syndrome,Disorder,,0018342,Q04.3,616546,C4518774,,,,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,Neonatal,Autosomal recessive
397692,Hereditary isolated aplastic anemia,Disease,Disorder,3A70.0,0018340,D61.0,616553,C5190891,,,,Hereditary isolated aplastic anemia,Childhood,"Autosomal dominant, Autosomal recessive"
397695,3q27.3 microdeletion syndrome,Disease,Disorder,,0018341,,,C4749427,,,,,,
397623,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,Malformation syndrome,Disorder,LD24.Y,0011227,Q87.1,602471,C4751574,,,,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,Neonatal,Autosomal recessive
397685,Familial hyperprolactinemia,Disease,Disorder,5A60.1,0014250,E22.1,615555,C4706551,,,,Familial hyperprolactinemia,Adult,Autosomal dominant
397615,Obesity due to CEP19 deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0014309,E66.8,615703,C5190985,,,,Obesity due to CEP19 deficiency,Childhood,Autosomal recessive
397618,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,Disease,Disorder,9C2Y,0012216,Q15.8,609218,C5190596,,,,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,Neonatal,Autosomal recessive
397596,Activated PI3K-delta syndrome,Clinical group,Group of disorders,,0018338,D81.8,616005,C3714976,C585640,10078281,11983,Activated PI3K-delta syndrome,"Adult, Childhood, Infancy",Autosomal dominant
397593,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,Disease,Disorder,,0018337,E88.8,615595,C4750855,,,,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,Neonatal,Autosomal recessive
397612,Macrocephaly-developmental delay syndrome,Malformation syndrome,Disorder,,0014289,Q75.3,615637,C4706573,,,,Macrocephaly-developmental delay syndrome,Neonatal,Autosomal recessive
397606,PrP systemic amyloidosis,Disease,Disorder,,0018339,E85.8,,C4518776,,,,PrP systemic amyloidosis,Adult,Autosomal dominant
397590,Silver-Russell syndrome due to a point mutation,Etiological subtype,Subtype of disorder,LD2F.1Y,,Q87.1,616489,C5681157,,,,Silver-Russell syndrome due to a point mutation,"Antenatal, Neonatal",Autosomal dominant
397587,Deep dermatophytosis,Disease,Disorder,1F28.Y,0021660,B35.8,,C1395264,,,,Deep dermatophytosis,"Adult, Childhood",Not applicable
394532,"Multiple acyl-CoA dehydrogenase deficiency, mild type",Clinical subtype,Subtype of disorder,5C52.01,0018333,E71.3,255100,C5680028,,,,"Multiple acyl-CoA dehydrogenase deficiency, mild type",,Autosomal recessive
394529,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",Clinical subtype,Subtype of disorder,5C52.01,0018332,E71.3,255100,C5680029,,,,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type","Infancy, Neonatal",Autosomal recessive
399839,Rare female infertility due to a congenital hypogonadotropic hypogonadism,Category,Group of disorders,,,,,C5681158,,,,,,
399831,Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder,Category,Group of disorders,,,,,C5680030,,,,,,
399824,Rare disorder with obstructive azoospermia,Category,Group of disorders,,,,,C5680031,,,,,,
399813,Male infertility due to sperm motility disorder,Category,Group of disorders,,,,,C5680032,,,,,,
399853,Rare female infertility due to an anomaly of ovarian function,Category,Group of disorders,,,,,C5681159,,,,,,
399849,Rare female infertility due to an adrenal disorder,Category,Group of disorders,,,,,C5681160,,,,,,
399846,Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism,Category,Group of disorders,,,,,C5681161,,,,,,
399771,Male infertility due to sperm disorder,Category,Group of disorders,,,,,C5681162,,,,,,
399764,Male infertility due to gonadal dysgenesis or sperm disorder,Category,Group of disorders,,,,,C5680033,,,,,,
399685,Rare male infertility due to testicular endocrine disorder,Category,Group of disorders,,,,,C5681163,,,,,,
399584,Rare male infertility due to adrenal disorder,Category,Group of disorders,,,,,C5681164,,,,,,
399808,Male infertility with teratozoospermia due to single gene mutation,Disease,Disorder,GB04.Y,0018394,N46,615413,C4706677,,,,Male infertility with teratozoospermia due to single gene mutation,"Adolescent, Adult",
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,Disease,Disorder,GB04.0,0018393,N46,618086,C5681165,,,8530,Male infertility with azoospermia or oligozoospermia due to single gene mutation,"Adolescent, Adult","Autosomal dominant, Autosomal recessive, X-linked recessive"
399786,Male infertility with spermatogenesis disorder due to single gene mutation,Category,Group of disorders,,,,,C5681166,,,12513,,,
399775,Male infertility with spermatogenesis disorder,Category,Group of disorders,,,,,C5681167,,,,,,
399329,Epiphysiolysis of the hip,Disease,Disorder,FB82.2,0018382,M93.9,,C0149887,D060048,,,Epiphysiolysis of the hip,"Adolescent, Childhood",
399391,Osteochondrosis of genetic origin,Category,Group of disorders,,,,,C5681168,,,,,,
399572,Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder,Category,Group of disorders,,,,,C5680034,,,,,,
399380,Osteonecrosis of genetic origin,Category,Group of disorders,,0018383,,,C5680035,,,,,,
399388,Avascular necrosis of genetic origin,Category,Group of disorders,,,,,C5681169,,,,,,
399180,Secondary non-traumatic avascular necrosis,Disease,Disorder,FB81.Y,0018376,M87.3,,C5192430,,,,Secondary non-traumatic avascular necrosis,Adult,Not applicable
399185,Rare hereditary disease with avascular necrosis,Category,Group of disorders,,,,,C5681170,,,,,,
399169,Secondary avascular necrosis,Category,Group of disorders,,0018374,,,C5680036,,,,,,
399175,Traumatic avascular necrosis,Disease,Disorder,FB81.3,0018375,M87.2,,,,,,,,
399307,Idiopathic avascular necrosis,Disease,Disorder,FB82.1,0018380,M87.0,,C1404767,,,,,,
399319,Osteochondrosis,Category,Group of disorders,FB82.1,0018381,,,C0029429,D055034,10031233,,,,
399293,Osteonecrosis of the jaw,Disease,Disorder,DA06.0,0018378,K10.2,,C2711248,,10064658,,,,
399302,Primary avascular necrosis,Clinical group,Group of disorders,,0018379,,,C5680038,,,,,,
399058,Alpha-B crystallin-related late-onset myopathy,Disease,Disorder,8C75,0012130,G71.0,608810,C5191079,,,,Alpha-B crystallin-related late-onset myopathy,Adult,Autosomal dominant
398987,Malignant teratoma of ovary,Disease,Disorder,2C73.3,0018369,C56,,C0346182,,,,Malignant teratoma of ovary,"Adolescent, Adult, Childhood, Infancy",Unknown
399086,HNRNPA1-related adult-onset distal myopathy,Disease,Disorder,,0012410,G71.0,610099,C1864706,C566445,,,HNRNPA1-related adult-onset distal myopathy,Adult,
399081,KLHL9-related early-onset distal myopathy,Disease,Disorder,,0018370,G71.0,,C4706574,,,,KLHL9-related early-onset distal myopathy,"Adolescent, Childhood",Autosomal dominant
399103,Autosomal recessive distal nebulin myopathy,Disease,Disorder,,0018371,G71.0,256030,C5190827,,,,Autosomal recessive distal nebulin myopathy,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
399096,Distal anoctaminopathy,Disease,Disorder,,0013222,G71.0,613319,C2750076,C567645,,,Distal anoctaminopathy,"Adolescent, Adult",Autosomal recessive
399164,Avascular necrosis,Category,Group of disorders,,0018373,,,C0027543,,,,,,
399158,Osteonecrosis,Category,Group of disorders,FB81,0005380,M87,,C0029445,D010020,10031264,,,,
398934,Malignant epithelial tumor of ovary,Category,Group of disorders,,0018364,,,C0677886,,10061328,9362,Malignant epithelial tumor of ovary,Adult,
398961,Mucinous adenocarcinoma of ovary,Disease,Disorder,2C73.04,0005601,C56,,C4518746,,,,Mucinous adenocarcinoma of ovary,Adult,
398940,Malignant non-epithelial tumor of ovary,Category,Group of disorders,,0018365,,,C5680039,,,,Malignant non-epithelial tumor of ovary,Adult,
398980,OBSOLETE: Primary peritoneal serous/papillary carcinoma,Disease,Disorder,,,,,,,,,,,
398971,Clear cell adenocarcinoma of the ovary,Disease,Disorder,2C73.00,0006045,C56,,C1518693,,,,Clear cell adenocarcinoma of the ovary,Adult,
398124,Neonatal lupus erythematosus,Disease,Disorder,KA07.0,0018360,M32.8,,C0409979,C536397,10057887,,Neonatal lupus erythematosus,Neonatal,Not applicable
398127,Neonatal scleroderma,Disease,Disorder,KC22.2,0018361,P83.8,,C4509425,,,,Neonatal scleroderma,Neonatal,
398147,Persistent idiopathic facial pain,Disease,Disorder,8A85,0018362,G50.1,,C5191641,,,,Persistent idiopathic facial pain,Adult,
398156,Oculoauriculofrontonasal syndrome,Malformation syndrome,Disorder,,0011082,Q87.0,601452,C1832352,C537865,,4031,Oculoauriculofrontonasal syndrome,Neonatal,Unknown
398166,Focal facial dermal dysplasia,Malformation syndrome,Disorder,LD27.0Y,0018363,Q82.8,614974,C2936827,D000090303,,8416,Focal facial dermal dysplasia,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
398173,Focal facial dermal dysplasia type II,Clinical subtype,Subtype of disorder,LD27.0Y,0013996,Q82.8,614973,C3554245,,,,Focal facial dermal dysplasia type II,"Antenatal, Neonatal",Autosomal dominant
398189,Focal facial dermal dysplasia type IV,Clinical subtype,Subtype of disorder,LD27.0Y,0013997,Q82.8,614974,C3554246,,,,Focal facial dermal dysplasia type IV,"Antenatal, Neonatal",Autosomal recessive
398069,Schaaf-Yang syndrome,Disease,Disorder,,0014243,Q87.1,615547,C5575066,C000726748,,13316,Schaaf-Yang syndrome,"Antenatal, Neonatal",Not applicable
398073,Prader-Willi-like syndrome,Clinical group,Group of disorders,,0018354,,,C3809877,,,,Prader-Willi-like syndrome,Neonatal,
398079,SIM1-related Prader-Willi-like syndrome,Disease,Disorder,,0018355,Q87.1,,C5680040,,,,SIM1-related Prader-Willi-like syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
398088,Hereditary cryohydrocytosis with normal stomatin,Disease,Disorder,3A10,0008494,D58.8,185020,C4750907,,,10184,Hereditary cryohydrocytosis with normal stomatin,Neonatal,Autosomal dominant
398091,Secondary neonatal autoimmune disease,Category,Group of disorders,,0018356,,,C5680041,,,,Secondary neonatal autoimmune disease,Neonatal,
398097,Neonatal antiphospholipid syndrome,Disease,Disorder,4A45.1,0018357,D68.6,,C4751518,,,,Neonatal antiphospholipid syndrome,Neonatal,
398109,Neonatal autoimmune hemolytic anemia,Disease,Disorder,3A20.Y,0018358,D59.1,,C4751517,,,,Neonatal autoimmune hemolytic anemia,Neonatal,
398117,Neonatal dermatomyositis,Disease,Disorder,4A41.0,0018359,M33.1,,C4751516,,,,Neonatal dermatomyositis,Neonatal,
435564,Genetic precocious puberty in female,Category,Group of disorders,,,,,C5681171,,,,,,
435561,Rare precocious puberty in female,Category,Group of disorders,,,,,C5816689,,,,,,
435554,Genetic precocious puberty,Category,Group of disorders,,,,,C5681172,,,,,,
435609,Genetic larynx anomaly,Category,Group of disorders,,,,,C5681173,,,,,,
435606,Genetic nose and cavum anomaly,Category,Group of disorders,,,,,C5681174,,,,,,
435603,Genetic otorhinolaryngological malformation,Category,Group of disorders,,,,,C5681175,,,,,,
435628,Keppen-Lubinsky syndrome,Malformation syndrome,Disorder,LD2B,0013572,E88.1,614098,C3279800,,,,Keppen-Lubinsky syndrome,Neonatal,"Autosomal dominant, Not applicable"
435623,OBSOLETE: Adactyly of foot,Morphological anomaly,Disorder,,,,,,,,,,,
435612,Genetic tracheal anomaly,Category,Group of disorders,,,,,C5681176,,,,,,
435743,Congenital urachal anomaly,Category,Group of disorders,,0018565,,,C1739100,,,,Congenital urachal anomaly,"Antenatal, Neonatal",
435660,LIPE-related familial partial lipodystrophy,Disease,Disorder,5A44,0014431,E88.1,615980,C4014869,,,,LIPE-related familial partial lipodystrophy,Adult,Autosomal recessive
435651,CIDEC-related familial partial lipodystrophy,Disease,Disorder,5A44,0014098,E88.1,615238,C3808940,,,,CIDEC-related familial partial lipodystrophy,Adolescent,Autosomal recessive
435638,3p25.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.31,0018564,Q93.5,,C5437630,,,,3p25.3 microdeletion syndrome,"Infancy, Neonatal",Not applicable
435804,Short stature-advanced bone age-early-onset osteoarthritis syndrome,Disease,Disorder,,0018566,M89.8,165800,C5681177,,,,Short stature-advanced bone age-early-onset osteoarthritis syndrome,"Adolescent, Childhood",Autosomal dominant
435808,OBSOLETE: ACAN-related skeletal dysplasia,Category,Group of disorders,,,,,,,,,,,
435845,Lethal neonatal spasticity-epileptic encephalopathy syndrome,Malformation syndrome,Disorder,,0013784,G40.4,614498,C3281029,,,,Lethal neonatal spasticity-epileptic encephalopathy syndrome,Neonatal,Autosomal recessive
435930,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,Disease,Disorder,,0008927,Q14.8,212550,C4225424,,,,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,Neonatal,Autosomal recessive
435819,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,Disease,Disorder,,0018567,G60.0,,C5569028,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,Adult,Autosomal dominant
435953,Progeroid features-hepatocellular carcinoma predisposition syndrome,Disease,Disorder,,0014527,C22.0,616200,C4015461,,,,Progeroid features-hepatocellular carcinoma predisposition syndrome,"Adolescent, Childhood",Autosomal recessive
435988,Chronic atrial and intestinal dysrhythmia syndrome,Disease,Disorder,BC80.20,0014528,K59.8,616201,C4015474,,10086078,12281,Chronic atrial and intestinal dysrhythmia syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
435934,COG2-CDG,Disease,Disorder,5C54.2,0054559,E77.8,617395,C4479353,,,,COG2-CDG,Infancy,Autosomal recessive
435938,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,Malformation syndrome,Disorder,,0018569,Q87.8,300998,C5681178,,,,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,"Antenatal, Neonatal",X-linked recessive
436141,HIDEA syndrome,Malformation syndrome,Disorder,,0018572,Q87.8,618493,C5681179,,,,HIDEA syndrome,"Infancy, Neonatal",Autosomal recessive
436144,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,Disease,Disorder,5A44,0018573,Q87.1,,C5681180,,,,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,"Antenatal, Neonatal",Autosomal dominant
435998,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,Disease,Disorder,,0014467,G60.0,616039,C5569027,,,,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,Childhood,Autosomal recessive
436003,Contractures-developmental delay-Pierre Robin syndrome,Malformation syndrome,Disorder,,0018571,Q87.0,,C5680042,,,,Contractures-developmental delay-Pierre Robin syndrome,"Antenatal, Neonatal",Unknown
436159,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,Disease,Disorder,,0014493,D84.8,616100,C4015214,,,12316,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,"Adolescent, Adult, Childhood",Autosomal dominant
436151,Intellectual disability-expressive aphasia-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0018574,,616078,,,,,,,
436169,Thrombomodulin-related bleeding disorder,Disease,Disorder,3B21.0,0013775,D68.3,614486,C3280976,C566057,,,Thrombomodulin-related bleeding disorder,All ages,Autosomal dominant
436166,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,Disease,Disorder,4A60.Y,0014472,E85.0,616050,C4015067,,,,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,Neonatal,Autosomal dominant
436182,Microcephalic primordial dwarfism-insulin resistance syndrome,Malformation syndrome,Disorder,LD20.2,0018575,Q87.1,616541,C5681181,,,,Microcephalic primordial dwarfism-insulin resistance syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
436174,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,Disease,Disorder,,0014455,E88.8,616007,C4014942,,,,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,"Childhood, Infancy",Autosomal recessive
436245,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,Disease,Disorder,LD21.Y,0014495,Q87.8,616108,C4015242,,,,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,Childhood,Autosomal recessive
436242,Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,Disease,Disorder,BC63.Y,,I45.8,616117,C5681182,,,,Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,Adult,Autosomal dominant
436271,Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,Disease,Disorder,,0018576,G93.4,619061,C5688227,,,,Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,Childhood,Autosomal recessive
436252,Combined immunodeficiency-multiple intestinal atresia,Disease,Disorder,,0800030,Q82.8,619708,C5680044,,,,Combined immunodeficiency-multiple intestinal atresia,Neonatal,Autosomal recessive
436274,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,Disease,Disorder,EE41.Y,0018577,Q82.8,,C5680045,,,,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,"Adolescent, Adult, Childhood",Autosomal recessive
437552,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,Disease,Disorder,,0014313,D84.8,615707,C5680046,,,,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,"Childhood, Infancy, Neonatal",Autosomal recessive
437572,OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy,Disease,Disorder,,,,,,,,,,,
438178,Fatty acyl-CoA reductase 1 deficiency,Disease,Disorder,,0014510,E71.3,616154,C4015344,,,,Fatty acyl-CoA reductase 1 deficiency,"Infancy, Neonatal",Autosomal recessive
438159,STAT3-related early-onset multisystem autoimmune disease,Disease,Disorder,4A01.22,0014414,M35.8,615952,C4014795,,,,STAT3-related early-onset multisystem autoimmune disease,"Childhood, Infancy",Autosomal dominant
438134,PCNA-related progressive neurodegenerative photosensitivity syndrome,Disease,Disorder,,0014399,G11.3,615919,C4014676,,,,PCNA-related progressive neurodegenerative photosensitivity syndrome,"Infancy, Neonatal",Autosomal recessive
438117,Steel syndrome,Disease,Disorder,LD24.E,0014061,Q87.5,615155,C3554594,,,,Steel syndrome,"Infancy, Neonatal",Autosomal recessive
438114,RARS-related autosomal recessive hypomyelinating leukodystrophy,Disease,Disorder,,0014506,E75.2,616140,C4015323,,,,RARS-related autosomal recessive hypomyelinating leukodystrophy,"Infancy, Neonatal",Autosomal recessive
438075,Ketoacidosis due to monocarboxylate transporter-1 deficiency,Disease,Disorder,,0014490,E88.8,616095,C4015186,,,,Ketoacidosis due to monocarboxylate transporter-1 deficiency,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
438072,Disorder of keton body transport,Category,Group of disorders,,,,,C5681184,,,,,,
438279,Human infection by orthopoxvirus,Disease,Disorder,1E74,0018583,B08.0,,C1532229,,,,Human infection by orthopoxvirus,All ages,Not applicable
438274,GCGR-related hyperglucagonemia,Disease,Disorder,5A42,0018582,E16.3,619290,C4763635,,,10460,GCGR-related hyperglucagonemia,Adult,Autosomal recessive
438266,Progressive encephalomyelitis with rigidity and myoclonus,Clinical subtype,Subtype of disorder,8D82,0018581,G04.8,184850,C1861457,C566113,,13110,Progressive encephalomyelitis with rigidity and myoclonus,"Adult, Infancy",Not applicable
438216,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,Etiological subtype,Subtype of disorder,,0014512,G40.4,616158,C4015357,,,,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,"Infancy, Neonatal","Autosomal dominant, Not applicable"
438213,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,Disease,Disorder,,0018580,G40.4,616158,C4708498,,10085882,,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable, Unknown"
438207,Severe autosomal recessive macrothrombocytopenia,Disease,Disorder,3B62.01,0014518,D69.1,616176,C5569048,,,,Severe autosomal recessive macrothrombocytopenia,Infancy,Autosomal recessive
439224,ALECT2 amyloidosis,Disease,Disorder,5D00.0,0018588,E85.8,,C5680047,,,,ALECT2 amyloidosis,,Not applicable
439232,AApoAIV amyloidosis,Disease,Disorder,5D00.2Y,0018589,E85.8,,C5568805,,,,AApoAIV amyloidosis,Adult,Not applicable
439212,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,Disease,Disorder,,0013731,G71.2,614399,C3280679,,,12199,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,"Infancy, Neonatal",Autosomal recessive
439218,KCNQ2-related developmental and epileptic encephalopathy,Disease,Disorder,,0013387,G40.4,613720,C4755256,,,13060,KCNQ2-related developmental and epileptic encephalopathy,"Infancy, Neonatal",Autosomal dominant
439196,Zinc-responsive necrolytic acral erythema,Particular clinical situation in a disease or syndrome,Disorder,,0018586,L53.8,,C4546437,,10084061,,Zinc-responsive necrolytic acral erythema,All ages,Not applicable
439202,Non-recovering obstetric brachial plexus lesion,Disease,Disorder,,0018587,P14.3,,C5680048,,,,Non-recovering obstetric brachial plexus lesion,,Not applicable
439167,Placental insufficiency,Clinical syndrome,Disorder,JA8A.Y,0005919,P02.2,,C0032051,D010927,10035138,,Placental insufficiency,Adult,Not applicable
439175,Pediatric arterial ischemic stroke,Clinical syndrome,Disorder,,0018585,I63.5,,C5680049,,,,Pediatric arterial ischemic stroke,"Adolescent, Childhood, Infancy, Neonatal",Not applicable
439762,Systemic polyarteritis nodosa,Clinical subtype,Subtype of disorder,4A44.4,0018596,M30.0,,C5848156,,,,Systemic polyarteritis nodosa,,Not applicable
439822,PDE4D haploinsufficiency syndrome,Malformation syndrome,Disorder,,0014298,Q87.8,615668,C5681186,,,,PDE4D haploinsufficiency syndrome,"Infancy, Neonatal",Unknown
439746,Secondary polyarteritis nodosa,Clinical subtype,Subtype of disorder,4A44.4,0018594,M30.8,,C5680050,,,,Secondary polyarteritis nodosa,,Not applicable
439755,Single-organ polyarteritis nodosa,Clinical subtype,Subtype of disorder,4A44.4,0018595,M30.0,,C5680051,,,,Single-organ polyarteritis nodosa,,Not applicable
439729,Cutaneous polyarteritis nodosa,Clinical subtype,Subtype of disorder,EF40.Z,0018592,M30.0,,C0343190,,,7415,Cutaneous polyarteritis nodosa,,Not applicable
439737,Primary polyarteritis nodosa,Clinical subtype,Subtype of disorder,4A44.4,0018593,M30.0,,C5680052,,,,Primary polyarteritis nodosa,,Not applicable
439246,ABeta2M amyloidosis,Clinical group,Group of disorders,5D00.3,0018590,,,C5680053,,,,ABeta2M amyloidosis,Adult,
439254,ITM2B amyloidosis,Disease,Disorder,5D00.2Y,0018591,I68.0*,176500,C5568806,,,,ITM2B amyloidosis,Adult,Autosomal dominant
440221,Congenital oculomotor nerve palsy,Disease,Disorder,9C81.0Y,0018599,Q07.8,,C5680054,,,,Congenital oculomotor nerve palsy,Neonatal,Not applicable
440233,Congenital abducens nerve palsy,Disease,Disorder,9C81.2,0018600,Q07.8,,C1302994,,,,Congenital abducens nerve palsy,Neonatal,Not applicable
439854,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,Disease,Disorder,5C51.3,0009867,E74.0,261740,C1849813,C564888,,10728,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,"Antenatal, Neonatal",Not applicable
439849,Autosomal recessive severe congenital neutropenia,Category,Group of disorders,,0028226,,,C5447331,,,,Autosomal recessive severe congenital neutropenia,,Autosomal recessive
439897,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,Malformation syndrome,Disorder,,0014552,Q87.8,616258,C4015701,,,,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,Antenatal,Autosomal recessive
439881,Plastic bronchitis,Particular clinical situation in a disease or syndrome,Disorder,CA42.Z,0018597,J98.0,,C0264342,,10051011,,Plastic bronchitis,All ages,
440402,Interstitial lung disease due to ABCA3 deficiency,Disease,Disorder,CB04.2,0012582,J84.8,610921,C1970456,C567046,,,Interstitial lung disease due to ABCA3 deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
440354,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,Malformation syndrome,Disorder,LD24.A,0018601,Q87.5,,C5680056,,,,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,"Antenatal, Neonatal",Autosomal dominant
440392,Interstitial lung disease due to SP-C deficiency,Disease,Disorder,CB04.2,0018603,J84.8,610913,C1970470,C567048,,,Interstitial lung disease due to SP-C deficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
440368,Necrotizing soft tissue infection,Disease,Disorder,1B71,0018602,M72.6,,C2732890,,10076637,,Necrotizing soft tissue infection,All ages,Not applicable
440713,Isolated sedoheptulokinase deficiency,Disease,Disorder,,0014969,E88.8,617213,C1291373,,,,Isolated sedoheptulokinase deficiency,"Antenatal, Neonatal",Autosomal recessive
440724,OBSOLETE: Extensive peripapillary myelinated nerve fibers,Disease,Disorder,,,,,,,,,,,
440727,Combined hamartoma of the retina and retinal pigment epithelium,Disease,Disorder,2F36.Y,0018607,D31.2,,C1862062,,,,Combined hamartoma of the retina and retinal pigment epithelium,Childhood,Not applicable
440731,L-ferritin deficiency,Biological anomaly,Disorder,,0014274,E83.1,615604,C3810090,,,,L-ferritin deficiency,Childhood,"Autosomal dominant, Autosomal recessive"
440427,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,Disease,Disorder,CB04.31,0014206,J84.0,615486,C4225400,,,,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,"Childhood, Infancy",Autosomal recessive
440437,Familial colorectal cancer Type X,Disease,Disorder,2B90.Y,0018604,C18.7,,C3896578,,,,Familial colorectal cancer Type X,"Adult, Elderly",Autosomal dominant
440701,Disorders of pentose/polyol metabolism,Category,Group of disorders,,0018605,,,C5681188,,,,,,
440706,Ribose-5-P isomerase deficiency,Disease,Disorder,,0012073,G93.8,608611,C1291609,C563212,,,Ribose-5-P isomerase deficiency,Childhood,Autosomal recessive
441434,Syndromic hereditary optic neuropathy,Category,Group of disorders,,,,,C5681189,,,,,,
441447,Early-onset posterior subcapsular cataract,Clinical subtype,Subtype of disorder,,0018610,H26.0,116600,C5681190,,,,Early-onset posterior subcapsular cataract,,"Autosomal dominant, Autosomal recessive"
441452,Early-onset lamellar cataract,Clinical subtype,Subtype of disorder,,0018611,H26.8,116100,C5681191,,,,Early-onset lamellar cataract,,Autosomal dominant
440987,Isolated agenesis of gallbladder,Morphological anomaly,Disorder,LB20.10,0007642,Q44.0,,C0266251,C562564,10079018,,Isolated agenesis of gallbladder,All ages,Not applicable
441344,"OBSOLETE: Autosomal recessive optic atrophy, OPA9 type",Clinical subtype,Subtype of disorder,,,,,,,,,,,
443057,Sporadic porphyria cutanea tarda,Clinical subtype,Subtype of disorder,5C58.10,0008295,E80.1,176090,C1867968,C566768,,,Sporadic porphyria cutanea tarda,,Multigenic/multifactorial
443062,Familial porphyria cutanea tarda,Clinical subtype,Subtype of disorder,5C58.10,0008296,E80.1,176100,C0268323,,,,Familial porphyria cutanea tarda,,Autosomal dominant
443079,Central serous chorioretinopathy,Disease,Disorder,9B75.2,0018616,H35.7,,C0730328,D056833,10086644,200,Central serous chorioretinopathy,,Not applicable
443084,Baroreflex failure,Clinical syndrome,Disorder,8D89.3,0018617,G90.4,,C1959798,,,10664,Baroreflex failure,All ages,Not applicable
443070,Hemicrania continua,Disease,Disorder,8A82,0018615,G44.0,,C2349425,,10090227,10795,Hemicrania continua,,Not applicable
443073,Charcot-Marie-Tooth disease type 2S,Disease,Disorder,,0014511,G60.0,616155,C4015349,,,,Charcot-Marie-Tooth disease type 2S,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
442835,Non-specific early-onset epileptic encephalopathy,Disease,Disorder,,0018614,G40.4,617830,C5680057,,,,Non-specific early-onset epileptic encephalopathy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
442582,AH amyloidosis,Disease,Disorder,5D00.Y,0018613,E85.9,,C5204115,,,,AH amyloidosis,Neonatal,Not applicable
3276,Disorder of plasmalogens biosynthesis,Category,Group of disorders,,0017986,,,C5681192,,,,,,
443197,X-linked erythropoietic protoporphyria,Disease,Disorder,,0010420,E80.0,300752,C2677889,C567464,,,X-linked erythropoietic protoporphyria,Childhood,X-linked dominant
3008,Pyruvate carboxylase deficiency,Disease,Disorder,5C53.03,0009949,E74.4,266150,C0034341,D015324,10077944,7512,Pyruvate carboxylase deficiency,"Infancy, Neonatal","Autosomal recessive, Not applicable"
443192,Classic stiff person syndrome,Clinical subtype,Subtype of disorder,8E4A.0,0018625,G25.8,184850,C5680058,,,,Classic stiff person syndrome,Adult,Not applicable
595,Centronuclear myopathy,Clinical group,Group of disorders,8C72.01,0018947,,,C0175709,,,101,Centronuclear myopathy,"Adolescent, Adult, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
443180,Spontaneous intracranial hypotension,Disease,Disorder,8D61.0,0018624,G96.0,,C0751731,,,,Spontaneous intracranial hypotension,"Adolescent, Adult, Childhood, Elderly",Not applicable
413,NON RARE IN EUROPE: Hyperlipoproteinemia type 4,Disease,Disorder,,,E78.1,,,,,,,,
443173,Postpartum psychosis,Disease,Disorder,6E21,0018623,F53.1,,C0520678,,10006362,,Postpartum psychosis,Adult,Not applicable
426,NON RARE IN EUROPE: Familial hypobetalipoproteinemia,Disease,Disorder,,,,,,,,,,,
443291,HIV-associated cancer,Particular clinical situation in a disease or syndrome,Disorder,,0018628,B21.8,,C5680059,,,,HIV-associated cancer,,Not applicable
298,Mitochondrial neurogastrointestinal encephalomyopathy,Disease,Disorder,5C53.20,0017575,G71.3,619780,C0872218,,10065271,9920,Mitochondrial neurogastrointestinal encephalomyopathy,"Adolescent, Adult, Childhood",Autosomal recessive
396,Chronic hiccup,Disease,Disorder,8A06.21,0018334,G25.8,,C0744898,,,6657,Chronic hiccup,All ages,Not applicable
443287,OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor,Category,Group of disorders,,,,,,,,,,,
443236,Postural orthostatic tachycardia syndrome due to NET deficiency,Disease,Disorder,,0011479,I95.1,604715,C5680060,,,13591,Postural orthostatic tachycardia syndrome due to NET deficiency,Adult,Autosomal dominant
552,MODY,Disease,Disorder,5A13.6,0018911,E34.8,616511,C0342276,C562772,,,MODY,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
854,Non-malignant and non-cirrhotic portal vein thrombosis,Clinical syndrome,Disorder,DB98.3,0019431,I81,,C0155773,,10036206,,Non-malignant and non-cirrhotic portal vein thrombosis,All ages,Not applicable
443227,Paratyphoid fever,Disease,Disorder,1A08,0018626,A01.4,,C0030528,D010284,10033971,,Paratyphoid fever,All ages,Not applicable
443098,Hyperostosis cranialis interna,Disease,Disorder,FB80.3,0007765,M85.2,144755,C1840404,C564168,,,Hyperostosis cranialis interna,"Adolescent, Adult, Childhood",Autosomal dominant
443095,Hyperinsulinemic hypoglycaemia,Category,Group of disorders,,0005803,,,C1864903,,10077216,,,,
443090,"46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect",Category,Group of disorders,,,,,C5816690,,,,,,
443087,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency",Disease,Disorder,,0013664,E29.1,614279,C0342473,,,,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency",Neonatal,Autosomal recessive
443167,NUT midline carcinoma,Disease,Disorder,,0005563,C80.9,,C1707291,,10078295,,NUT midline carcinoma,"Adolescent, Adult, Childhood, Elderly",Not applicable
130,Brugada syndrome,Disease,Disorder,BC65.1,0015263,I49.8,616399,C1142166,D053840,10059027,1030,Brugada syndrome,"Adult, Childhood","Autosomal dominant, Not applicable"
277,Severe combined immunodeficiency due to adenosine deaminase deficiency,Disease,Disorder,4A01.10,0007064,D81.3,102700,C0392607,C531816,10066367,5748,Severe combined immunodeficiency due to adenosine deaminase deficiency,"Infancy, Neonatal",Autosomal recessive
443162,NDE1-related microhydranencephaly,Malformation syndrome,Disorder,,0011504,Q04.8,605013,C1857977,,,10216,NDE1-related microhydranencephaly,"Antenatal, Neonatal",Autosomal recessive
443159,Lymphoplasmacytic lymphoma without IgM production,Disease,Disorder,,0018621,C83.0,,C5680061,,,,Lymphoplasmacytic lymphoma without IgM production,,Not applicable
443101,Hypothalamic adipsic hypernatraemia syndrome,Disease,Disorder,5A61.Y,0018620,E23.3,,C5681196,,,,Hypothalamic adipsic hypernatraemia syndrome,,Not applicable
443325,OBSOLETE: HIV-related Non-Hodgkin lymphoma,Disease,Disorder,,,,,,,,,,,
443328,OBSOLETE: HIV-related Kaposi sarcoma,Disease,Disorder,,,,,,,,,,,
443804,Focal stiff limb syndrome,Clinical subtype,Subtype of disorder,,0018629,G25.8,184850,C4324606,,10079359,,Focal stiff limb syndrome,Adult,Not applicable
443811,PGM3-CDG,Disease,Disorder,,0014353,E77.8,615816,C4014371,,,4331,PGM3-CDG,"Childhood, Infancy, Neonatal",Autosomal recessive
443909,Hereditary nonpolyposis colon cancer,Clinical group,Group of disorders,,0018630,,,C1333990,,,8533,,,
443950,DNAJB2-related Charcot-Marie-Tooth disease type 2,Disease,Disorder,,,G60.0,614881,C5569053,,,,DNAJB2-related Charcot-Marie-Tooth disease type 2,Adult,Autosomal recessive
443988,Ventriculomegaly-cystic kidney disease,Disease,Disorder,,0009063,Q04.8,219730,C1857423,C565657,,,Ventriculomegaly-cystic kidney disease,Antenatal,Autosomal recessive
443301,OBSOLETE: HIV-related lung cancer,Disease,Disorder,,,,,,,,,,,
443304,OBSOLETE: HIV-related oropharyngeal cancer,Disease,Disorder,,,,,,,,,,,
443307,OBSOLETE: HIV-related anal cancer,Disease,Disorder,,,,,,,,,,,
443310,OBSOLETE: HIV-related hepatocellular carcinoma,Disease,Disorder,,,,,,,,,,,
443313,OBSOLETE: HIV-related penile cancer,Disease,Disorder,,,,,,,,,,,
443316,OBSOLETE: HIV-related Hodgkin lymphoma,Disease,Disorder,,,,,,,,,,,
443319,OBSOLETE: HIV-related vulvovaginal cancer,Disease,Disorder,,,,,,,,,,,
443322,OBSOLETE: HIV-related cervical cancer,Disease,Disorder,,,,,,,,,,,
444092,Autoimmune interstitial lung disease-arthritis syndrome,Disease,Disorder,CB05.1,0014629,M35.8,616414,C5243948,,10083948,,Autoimmune interstitial lung disease-arthritis syndrome,"Childhood, Infancy",Autosomal dominant
444099,Autosomal dominant spastic paraplegia type 73,Disease,Disorder,8B44.00,0014568,G11.4,616282,C5568981,,,,Autosomal dominant spastic paraplegia type 73,Adult,Autosomal dominant
444116,Hereditary amyloidosis,Category,Group of disorders,5D00.2,0018634,,,C0740340,D028226,10016202,6611,,,
444138,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,Disease,Disorder,,0014574,Q82.8,616295,C4225381,,,,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,Infancy,Autosomal recessive
444002,11q22.2q22.3 microdeletion syndrome,Malformation syndrome,Disorder,,0018632,Q93.5,,C5680062,,,,11q22.2q22.3 microdeletion syndrome,"Infancy, Neonatal",Not applicable
443995,Mandibulofacial dysostosis with alopecia,Malformation syndrome,Disorder,,0014608,Q75.4,616367,C4225349,,,,Mandibulofacial dysostosis with alopecia,"Infancy, Neonatal","Autosomal dominant, Not applicable"
444048,"46,XX ovarian dysgenesis-short stature syndrome",Disease,Disorder,,0014520,Q96.8,617690,C4015409,,,,"46,XX ovarian dysgenesis-short stature syndrome",Adolescent,Autosomal recessive
444013,Combined oxidative phosphorylation defect type 23,Disease,Disorder,5C53.2Y,0014525,E88.8,616198,C5567743,,,,Combined oxidative phosphorylation defect type 23,"Childhood, Infancy, Neonatal",Autosomal recessive
444069,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,Malformation syndrome,Disorder,,,Q87.8,243605,C5681197,,,,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,Antenatal,Autosomal recessive
444051,20q11.2 microdeletion syndrome,Malformation syndrome,Disorder,,0018633,Q93.5,,C5680063,,,,20q11.2 microdeletion syndrome,"Antenatal, Neonatal",Not applicable
444077,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,Malformation syndrome,Disorder,LD2F.1Y,0014609,Q87.8,616368,C4085597,,,12845,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
444072,Cerebellar-facial-dental syndrome,Malformation syndrome,Disorder,,0014529,Q87.0,616202,C4015495,,,,Cerebellar-facial-dental syndrome,"Antenatal, Neonatal",Autosomal recessive
444463,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency,Disease,Disorder,4A01.21,0018636,D89.8,619220,C5543159,,,,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency,"Childhood, Infancy",Autosomal recessive
444490,Familial chylomicronemia syndrome,Disease,Disorder,5C80.1,0018637,E78.3,144650,C5442313,,,6414,Familial chylomicronemia syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
444316,Idiopathic phalangeal acro-osteolysis,Disease,Disorder,FB86.2,0018635,M89.5,,C5680064,,,,Idiopathic phalangeal acro-osteolysis,,Not applicable
444458,Combined oxidative phosphorylation defect type 24,Disease,Disorder,5C53.23,0014547,E88.8,616239,C4015643,,,,Combined oxidative phosphorylation defect type 24,Infancy,Autosomal recessive
445110,Limb-girdle muscular dystrophy due to POMK deficiency,Disease,Disorder,8C70.41,0014489,G71.0,616094,C4015184,,,,Limb-girdle muscular dystrophy due to POMK deficiency,Infancy,Autosomal recessive
445062,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,Disease,Disorder,5A13.0,0014523,G31.8,616192,C4015436,,,,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,"Adolescent, Childhood, Infancy",Autosomal recessive
445038,3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome,Disease,Disorder,5C50.E0,,E71.1,616271,C4225393,,,,3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome,"Antenatal, Neonatal",Autosomal recessive
445018,Syndromic autoimmune enteropathy due to LRBA deficiency,Disease,Disorder,4A01.21,0013863,D81.8,614700,C3553512,,,13565,Syndromic autoimmune enteropathy due to LRBA deficiency,"Childhood, Infancy",Autosomal recessive
444941,Caudal regression-sirenomelia spectrum,Clinical group,Group of disorders,,0018639,,,C5681198,,,,,,
444916,Pseudohypoaldosteronism,Clinical group,Group of disorders,,0018638,,,C0033805,D011546,10080593,,,,
447731,NIK deficiency,Disease,Disorder,4A01.1Y,0018642,D81.8,620449,C5680065,,,,NIK deficiency,"Infancy, Neonatal",Autosomal recessive
447737,Combined immunodeficiency due to DOCK2 deficiency,Disease,Disorder,4A01.1Y,0014637,D81.8,616433,C5925035,,,12653,Combined immunodeficiency due to DOCK2 deficiency,"Infancy, Neonatal",Autosomal recessive
447740,Aggressive periodontitis,Disease,Disorder,,0018643,D71,,C5681199,,,,Aggressive periodontitis,Adolescent,Autosomal recessive
445197,Secondary vasculitis,Category,Group of disorders,,0018640,,,C5681200,,,,,,
447881,Idiopathic dropped head syndrome,Clinical syndrome,Disorder,,0018654,G72.8,,C3266164,,,,Idiopathic dropped head syndrome,All ages,Not applicable
447877,Polymerase proofreading-related polyposis,Disease,Disorder,,0018653,D12.6,615083,C5202613,,,,Polymerase proofreading-related polyposis,Childhood,Autosomal dominant
447896,Tremor-ataxia-central hypomyelination syndrome,Clinical subtype,Subtype of disorder,,0018656,E75.2,607694,C5680067,,,,Tremor-ataxia-central hypomyelination syndrome,"Childhood, Infancy",Autosomal recessive
447893,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,Clinical subtype,Subtype of disorder,,0018655,E75.2,607694,C5681201,,,,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,"Childhood, Infancy",Autosomal recessive
447792,OBSOLETE: Hemochromatosis type 5,Disease,Disorder,,,,,,,,,,,
447788,Cerebral visual impairment,Clinical syndrome,Disorder,9C43,0018649,H47.6,,C3810365,,,,Cerebral visual impairment,"Infancy, Neonatal",Not applicable
447874,Biological anomaly without phenotypic characterization,Category,Group of disorders,,,,,C5681202,,,,,,
447795,Lipoyl transferase 2 deficiency,Biological anomaly,Disorder,,0018651,E88.8,617668,C5681203,,,,Lipoyl transferase 2 deficiency,No data available,No data available
447774,Secondary sclerosing cholangitis,Disease,Disorder,DC13,0018647,K83.0,,C0400978,,,,Secondary sclerosing cholangitis,,Not applicable
447771,Sclerosing cholangitis,Clinical group,Group of disorders,,0018646,,,C0008313,D015209,10008609,,,,
447784,Mitochondrial pyruvate carrier deficiency,Disease,Disorder,5C53.0Y,0013877,E74.4,614741,C3553607,,,,Mitochondrial pyruvate carrier deficiency,Neonatal,Autosomal recessive
447777,Keratocystic odontogenic tumor,Disease,Disorder,2E83.1,0018648,D16.4,,C1708604,,,,Keratocystic odontogenic tumor,,Not applicable
447757,Autosomal dominant spastic paraplegia type 9B,Disease,Disorder,8B44.00,18644,G11.4,,C5568979,,,,Autosomal dominant spastic paraplegia type 9B,"Adolescent, Adult, Infancy",Autosomal dominant
447753,Autosomal dominant spastic paraplegia type 9A,Disease,Disorder,8B44.00,0011006,G11.4,601162,C5568978,,,9583,Autosomal dominant spastic paraplegia type 9A,"Adolescent, Adult, Infancy",Autosomal dominant
447764,IgG4-related sclerosing cholangitis,Clinical subtype,Subtype of disorder,4A43.0,0018645,K83.0,,C4302109,,,,IgG4-related sclerosing cholangitis,,Not applicable
447760,Autosomal recessive spastic paraplegia type 9B,Disease,Disorder,8B44.00,0014702,G11.4,616586,C5568980,,,,Autosomal recessive spastic paraplegia type 9B,"Childhood, Infancy",Autosomal recessive
412066,PRKAR1B-related neurodegenerative dementia with intermediate filaments,Disease,Disorder,,0018475,G31.8,,C4751505,,,,PRKAR1B-related neurodegenerative dementia with intermediate filaments,Adult,Autosomal dominant
412057,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,Disease,Disorder,,0014339,G11.1,615768,C5190574,,,,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,"Adolescent, Adult, Childhood",Autosomal recessive
412181,Epidermolysis bullosa simplex due to BP230 deficiency,Disease,Disorder,EC30,0014180,Q81.0,615425,C4750917,,,,Epidermolysis bullosa simplex due to BP230 deficiency,Adult,Autosomal recessive
412069,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,Malformation syndrome,Disorder,,0014358,Q87.8,615829,C4014419,,,13409,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,Neonatal,Autosomal dominant
412189,Epidermolysis bullosa simplex due to exophilin 5 deficiency,Disease,Disorder,,0014014,Q81.0,615028,C4750918,,,,Epidermolysis bullosa simplex due to exophilin 5 deficiency,Childhood,Autosomal recessive
412217,Dystonia-aphonia syndrome,Disease,Disorder,,0018476,G24.8,,C5190573,,,,Dystonia-aphonia syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
412206,Primary failure of tooth eruption,Disease,Disorder,DA07.6Y,0007434,K00.6,125350,C1852222,C565114,,,Primary failure of tooth eruption,,Autosomal dominant
412220,OBSOLETE: Ramsay Hunt syndrome type II,Disease,Disorder,,,,,,,,,,,
418959,Squamous cell carcinoma of the stomach,Disease,Disorder,2B72.Y,0006230,C16.8,,C1333789,,,,Squamous cell carcinoma of the stomach,"Adult, Elderly",Not applicable
418945,"Carcinoma of esophagus, salivary gland type",Disease,Disorder,2B70.Y,0018480,C15.0,,C5190854,,,,"Carcinoma of esophagus, salivary gland type","Adult, Elderly",Not applicable
418951,Undifferentiated carcinoma of esophagus,Disease,Disorder,2B70.Y,0018481,C15.8,,C2188058,,,,Undifferentiated carcinoma of esophagus,"Adult, Elderly",Not applicable
420259,Secondary pulmonary alveolar proteinosis,Disease,Disorder,CB04.31,0018483,J84.0,,C3873302,,,,Secondary pulmonary alveolar proteinosis,,Not applicable
420179,Malan overgrowth syndrome,Malformation syndrome,Disorder,LD2C,0013885,Q87.3,614753,C3553660,,,,Malan overgrowth syndrome,Infancy,"Autosomal dominant, Unknown"
414726,Genetic facial cleft,Category,Group of disorders,,,,,C5680068,,,,,,
415675,OBSOLETE: Small pox,Disease,Disorder,,,,,,,,,,,
415300,NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy,Disease,Disorder,,,,,,,,,,,
415286,Bilirubin encephalopathy,Clinical group,Group of disorders,,0018477,P57,,C0022610,D007647,10023376,6830,Bilirubin encephalopathy,"Infancy, Neonatal",Not applicable
415268,NON RARE IN EUROPE: Adenocarcinoma of the lung,Disease,Disorder,,,,,,,,,,,
415687,NON RARE IN EUROPE: Sudden infant death syndrome,Disease,Disorder,,,,,,,,,,,
420755,Rare genetic odontal or periodontal disorder,Category,Group of disorders,,,,,C5681204,,,,,,
420789,Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,Disease,Disorder,,0018489,G04.8,,C4707562,,,,Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,"Adult, Elderly",Not applicable
420794,Cono-spondylar dysplasia,Malformation syndrome,Disorder,LD24.3,0018490,Q77.7,,C4707860,,,,Cono-spondylar dysplasia,"Antenatal, Infancy, Neonatal",Autosomal recessive
420702,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,Disease,Disorder,,0014865,D70,617014,C5190863,,,,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,"Infancy, Neonatal",Autosomal recessive
420728,Combined oxidative phosphorylation defect type 20,Disease,Disorder,5C53.23,0014397,E88.8,615917,C4014660,,,,Combined oxidative phosphorylation defect type 20,Infancy,Autosomal recessive
420733,Combined oxidative phosphorylation defect type 21,Disease,Disorder,5C53.23,0014398,E88.8,615918,C4706316,,,,Combined oxidative phosphorylation defect type 21,Neonatal,Autosomal recessive
420741,RIDDLE syndrome,Malformation syndrome,Disorder,,0012764,D82.8,611943,C2677792,C567453,,,RIDDLE syndrome,"Adolescent, Infancy",Autosomal recessive
420492,"Adult-onset cervical dystonia, DYT23 type",Disease,Disorder,,0013928,G24.8,614860,C3538999,,,,"Adult-onset cervical dystonia, DYT23 type",Adult,Autosomal dominant
420485,Cranio-cervical dystonia with laryngeal and upper-limb involvement,Disease,Disorder,,0014019,G24.8,615034,C3554374,,,,Cranio-cervical dystonia with laryngeal and upper-limb involvement,"Adolescent, Adult, Childhood",Autosomal dominant
420556,Visual snow syndrome,Disease,Disorder,9C4Y,0018486,H53.8,,C4324662,C000726567,10079450,12062,Visual snow syndrome,,Not applicable
420402,Semicircular canal dehiscence syndrome,Clinical syndrome,Disorder,AB31.3,0018484,H83.8,,C4708600,D000084322,,,Semicircular canal dehiscence syndrome,All ages,Not applicable
420429,"Glycogen storage disease due to acid maltase deficiency, late-onset",Clinical subtype,Subtype of disorder,5C51.3,0018485,E74.0,232300,C3888925,,,,"Glycogen storage disease due to acid maltase deficiency, late-onset","Adolescent, Adult",Autosomal recessive
420611,Transient myeloproliferative syndrome,Disease,Disorder,2A60.40,0008040,D47.1,159595,C1834582,C563551,,12765,Transient myeloproliferative syndrome,"Antenatal, Neonatal",Not applicable
420584,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0014369,Q87.8,615849,C4014479,,,13349,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,"Antenatal, Neonatal",Autosomal dominant
420699,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,Disease,Disorder,,0018487,D70,619407,C5190862,,,,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,"Infancy, Neonatal",Autosomal recessive
420686,Woolly hair-palmoplantar keratoderma syndrome,Disease,Disorder,,0014492,Q82.8,616099,C4706686,,,,Woolly hair-palmoplantar keratoderma syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
420561,Temple-Baraitser syndrome,Disease,Disorder,,0012735,Q87.2,611816,C2678486,C567516,,9441,Temple-Baraitser syndrome,"Infancy, Neonatal",Autosomal dominant
420573,Severe combined immunodeficiency due to CTPS1 deficiency,Disease,Disorder,,0014391,D81.2,615897,C4706524,,,,Severe combined immunodeficiency due to CTPS1 deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
420566,Bleeding disorder due to CalDAG-GEFI deficiency,Disease,Disorder,3B62.Y,0014386,D69.1,615888,C4510815,,,,Bleeding disorder due to CalDAG-GEFI deficiency,Infancy,Autosomal recessive
423461,Mucolipidosis type III alpha/beta,Clinical subtype,Subtype of disorder,5C56.20,0018931,E77.0,252600,,,,,Mucolipidosis type III alpha/beta,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
423470,Mucolipidosis type III gamma,Clinical subtype,Subtype of disorder,5C56.20,0009652,E77.0,252605,C1854896,,,,Mucolipidosis type III gamma,,Autosomal recessive
423454,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,Disease,Disorder,,0014460,Q82.8,616029,C4014987,,,,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,Infancy,Autosomal recessive
423384,Severe congenital neutropenia due to JAGN1 deficiency,Disease,Disorder,4B00.00,0014456,D70,616022,C5925036,,,,Severe congenital neutropenia due to JAGN1 deficiency,"Infancy, Neonatal",Autosomal recessive
423296,Spinocerebellar ataxia type 38,Disease,Disorder,8A03.16,0014417,G11.8,615957,C4518337,,,,Spinocerebellar ataxia type 38,Adult,Autosomal dominant
423306,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0018494,Q87.1,,C4749647,,,,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
423717,Cutaneous larva migrans,Disease,Disorder,1F68.2,0018500,B76.9,,C0546999,,10059547,1629,Cutaneous larva migrans,All ages,Not applicable
423771,Rare carcinoma of stomach,Category,Group of disorders,,,,,C5680069,,,,,,
423693,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect,Clinical subtype,Subtype of disorder,LA85.22,0018498,Q20.1,,C5680070,,,,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect,,Multigenic/multifactorial
423712,"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy",Clinical subtype,Subtype of disorder,,0018499,Q24.8,,C5680071,,,,"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy",,Multigenic/multifactorial
423662,Rare autonomic nervous system disorder,Category,Group of disorders,,,,,C5681205,,,,,,
423668,NON RARE IN EUROPE: Cortisol-producing adrenal tumor,Disease,Disorder,,,,,,,,,,,
423479,X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency,Disease,Disorder,LD90,0018495,E79.8,,C4517296,,,,X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency,"Antenatal, Neonatal",X-linked recessive
423655,ARX-related encephalopathy-brain malformation spectrum,Clinical group,Group of disorders,,,,,C5681206,,,,ARX-related encephalopathy-brain malformation spectrum,"Antenatal, Childhood, Infancy, Neonatal",
422526,Hereditary clear cell renal cell carcinoma,Disease,Disorder,,0018492,C64,144700,C1333985,,,9571,Hereditary clear cell renal cell carcinoma,Adult,Unknown
422519,OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency,Category,Group of disorders,,,,,,,,,,,
423275,Spinocerebellar ataxia type 40,Disease,Disorder,8A03.16,0014475,G11.8,616053,C4518336,,,12371,Spinocerebellar ataxia type 40,Adult,Autosomal dominant
424065,Pancreatic solid pseudopapillary neoplasm,Disease,Disorder,2C10.0,0018525,C25.8,,C1336029,,,,Pancreatic solid pseudopapillary neoplasm,Adult,Not applicable
424058,Intraductal papillary mucinous carcinoma of pancreas,Disease,Disorder,2C10.0,0004285,C25.3,,C1335304,,10073365,,Intraductal papillary mucinous carcinoma of pancreas,Adult,Not applicable
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Disease,Disorder,2C10.0,0006479,C25.8,,C2007059,,,,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Adult,Not applicable
424073,Serous cystadenocarcinoma of pancreas,Disease,Disorder,2C10.0,0003630,C25.7,,C1335315,,,,Serous cystadenocarcinoma of pancreas,Adult,Not applicable
424107,Congenital myopathy with myasthenic-like onset,Disease,Disorder,,0018528,G71.2,,C4706390,,,,Congenital myopathy with myasthenic-like onset,"Infancy, Neonatal",Autosomal recessive
424099,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,Malformation syndrome,Disorder,LD24.A,0014380,Q87.5,615877,C4707229,,,,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
424925,Qualitative or quantitative defects of Torsin-1A-interacting protein 1,Category,Group of disorders,,,,,C5681207,,,,,,
424261,TOR1AIP1-related limb-girdle muscular dystrophy,Disease,Disorder,,0014900,G71.0,617072,C4511482,,,,TOR1AIP1-related limb-girdle muscular dystrophy,"Adolescent, Childhood",Autosomal recessive
424016,Adenocarcinoma of the anal canal,Disease,Disorder,2C00.0,0002735,C21.1,,C1332259,,,,Adenocarcinoma of the anal canal,Adult,Not applicable
424013,Carcinoma of the anal canal,Clinical group,Group of disorders,,0007108,,,C0563211,C563020,,,,,
424027,Progressive myoclonic epilepsy type 8,Disease,Disorder,,0014545,G40.3,616230,C5190825,,,,Progressive myoclonic epilepsy type 8,"Adolescent, Childhood",Autosomal recessive
424019,Squamous cell carcinoma of the anal canal,Disease,Disorder,2C00.3,0004132,C21.1,,C4301960,,,,Squamous cell carcinoma of the anal canal,Adult,Not applicable
424039,Squamous cell carcinoma of pancreas,Disease,Disorder,2C10.Y,0018521,C25.8,,C2675993,,,,Squamous cell carcinoma of pancreas,Adult,Not applicable
424033,Rare epithelial tumor of pancreas,Category,Group of disorders,,,,,C5680072,,,,,,
424053,Mucinous cystadenocarcinoma of the pancreas,Disease,Disorder,2C10.0,18523,C25.1,,C2063873,,,,Mucinous cystadenocarcinoma of the pancreas,Adult,Not applicable
424046,Acinar cell carcinoma of pancreas,Disease,Disorder,2C10.0,0006346,C25.2,,C0279661,,10073363,,Acinar cell carcinoma of pancreas,Adult,Not applicable
423968,Squamous cell carcinoma of the small intestine,Disease,Disorder,2B80.Y,0018509,C17.8,,C4707899,,,,Squamous cell carcinoma of the small intestine,"Adult, Elderly",Not applicable
423975,Neuroendocrine tumor of the small intestine,Category,Group of disorders,,0018510,,,C1336005,,10085940,,,,
423982,Epithelial tumor of the appendix,Category,Group of disorders,,0018511,,,C5680073,,,,,,
423991,Rare epithelial tumor of colon,Category,Group of disorders,,,,,C5681208,,,,,,
423994,Squamous cell carcinoma of the colon,Disease,Disorder,2B90.Y,0018513,C18.9,,C1333100,,,,Squamous cell carcinoma of the colon,Adult,Not applicable
423998,Rare epithelial tumor of rectum,Category,Group of disorders,,,,,C5680074,,,,,,
424002,Squamous cell carcinoma of the rectum,Disease,Disorder,2B92.Y,0018515,C20,,C1335690,,,,Squamous cell carcinoma of the rectum,Adult,Not applicable
424010,Epithelial tumor of anal canal,Category,Group of disorders,,0018516,,,C5681209,,,,,,
423776,Hereditary gastric cancer,Category,Group of disorders,,0018502,,,C5680075,,,,,,
423781,"OBSOLETE: Carcinoma of stomach, salivary gland type",Disease,Disorder,,,,,,,,,,,
423786,Undifferentiated carcinoma of stomach,Disease,Disorder,2B72.Y,0018504,C16.4,,C1336858,,,,Undifferentiated carcinoma of stomach,Adult,Not applicable
423793,Rare tumor of small intestine,Category,Group of disorders,,,,,C5680076,,,,,,
423798,Mesenchymal tumor of small intestine,Category,Group of disorders,,0018506,,,C5680077,,,,,,
423894,Microcephaly-complex motor and sensory axonal neuropathy syndrome,Disease,Disorder,,0018507,G60.0,,C4706585,,,,Microcephaly-complex motor and sensory axonal neuropathy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
423957,Rare carcinoma of small intestine,Category,Group of disorders,,,,,C5680078,,,,,,
431140,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,Malformation syndrome,Disorder,,0010485,Q87.0,300915,C4749694,,,,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,"Antenatal, Neonatal",X-linked recessive
425368,Rare epithelial tumor of small intestine,Category,Group of disorders,,,,,C5680079,,,,,,
425003,Inherited digestive cancer-predisposing syndrome,Category,Group of disorders,,,,,C5681210,,,,,,
425120,STING-associated vasculopathy with onset in infancy,Disease,Disorder,4A44.Y,0014405,M35.8,615934,C4014722,,10088833,12357,STING-associated vasculopathy with onset in infancy,Infancy,Autosomal dominant
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Disease,Disorder,,0018532,C22.0,,C5192429,,,,Adenocarcinoma of the liver and intrahepatic biliary tract,Adult,Not applicable
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Disease,Disorder,,0018533,C22.0,,C4749401,,,,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Adult,Not applicable
424933,Rare malignant epithelial tumor of liver and intrahepatic biliary tract,Category,Group of disorders,,,,,C5680080,,,,,,
424936,Carcinoma of liver and intrahepatic biliary tract,Category,Group of disorders,,0018531,,,,,,,,,
424991,Adenocarcinoma of the gallbladder and extrahepatic biliary tract,Disease,Disorder,,0018536,C24.8,,C4707555,,,,Adenocarcinoma of the gallbladder and extrahepatic biliary tract,Adult,Not applicable
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Disease,Disorder,,0018537,C24.9,,C4707898,,,,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Adult,Not applicable
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Disease,Disorder,,0018534,C22.0,,C4749400,,,,Squamous cell carcinoma of liver and intrahepatic biliary tract,Adult,Not applicable
424982,Biliary cystadenocarcinoma,Disease,Disorder,2C12.1Y,0018535,C22.1,,C0334286,,,,Biliary cystadenocarcinoma,Adult,Not applicable
431361,Progressive encephalopathy with leukodystrophy due to DECR deficiency,Disease,Disorder,,0014464,G31.8,616034,C1857252,C565624,,10327,Progressive encephalopathy with leukodystrophy due to DECR deficiency,"Infancy, Neonatal",Autosomal recessive
431353,Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,Category,Group of disorders,,0018554,,,C3698354,,,,Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,All ages,
431341,Patent urachus,Morphological anomaly,Disorder,LB03.0,0018551,Q64.4,,C0266357,,,,Patent urachus,Neonatal,Not applicable
431344,Urachal sinus,Morphological anomaly,Disorder,LB03.0,0018552,Q64.4,,C3472657,,,,Urachal sinus,"Infancy, Neonatal",Not applicable
431347,Urachal diverticulum,Morphological anomaly,Disorder,LB03.0,0018553,Q64.4,,C0431743,,,,Urachal diverticulum,,Not applicable
431272,X-linked scapuloperoneal muscular dystrophy,Disease,Disorder,8C70.5,0010400,G71.0,300695,C5399872,,,7608,X-linked scapuloperoneal muscular dystrophy,Adult,X-linked dominant
431320,Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder,Clinical group,Group of disorders,,,,,C5230629,,,,,,
431329,Autosomal recessive spastic paraplegia type 57,Disease,Disorder,8B44.01,0014295,G11.4,615658,C3714897,,,17712,Autosomal recessive spastic paraplegia type 57,Infancy,Autosomal recessive
431255,Scapuloperoneal spinal muscular atrophy,Disease,Disorder,8B61.4,0008408,G12.1,181405,C0751335,,,10314,Scapuloperoneal spinal muscular atrophy,"Childhood, Infancy, Neonatal",Autosomal dominant
431263,Late-onset scapuloperoneal muscular dystrophy with hyaline bodies,Clinical group,Group of disorders,,,,,C5680081,,,,,,
431149,Combined immunodeficiency due to OX40 deficiency,Disease,Disorder,,0014268,D81.8,615593,C4707864,,,,Combined immunodeficiency due to OX40 deficiency,Childhood,Autosomal recessive
431156,Primary immunodeficiency with predisposition to severe viral infection,Category,Group of disorders,,,,,C5681211,,,,,,
431166,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,Disease,Disorder,,0014715,D84.8,616636,C5190882,,,,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,Infancy,Autosomal recessive
435438,Progressive myoclonic epilepsy type 7,Disease,Disorder,8A61.41,0014521,G40.3,616187,C4015420,,10089657,,Progressive myoclonic epilepsy type 7,Childhood,Autosomal dominant
435387,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,Disease,Disorder,8C20.1,0014735,G60.0,616687,C5569026,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,"Adult, Childhood",Autosomal dominant
435372,Anterior urethral valve,Morphological anomaly,Disorder,LB31.2,0018560,Q64.7,,C0431755,,,,Anterior urethral valve,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Not applicable
435365,Fetal lower urinary tract obstruction,Clinical group,Group of disorders,LB31.2,0018559,,,C4305545,,,,,,
435329,Familial ossifying fibroma,Disease,Disorder,2E83.0,0007660,D16.4,137575,C3495361,C563017,10081225,,Familial ossifying fibroma,"Adolescent, Adult, Childhood",Autosomal dominant
434809,Syndrome with woolly hair,Category,Group of disorders,,,,,C0345427,,,,Syndrome with woolly hair,Neonatal,
434786,Rare genetic autonomic nervous system disorder,Category,Group of disorders,,,,,C5681212,,,,,,
434179,Orofaciodigital syndrome type 14,Malformation syndrome,Disorder,LD25.00,0014413,Q87.0,615948,C4706604,,,13655,Orofaciodigital syndrome type 14,"Antenatal, Neonatal",Autosomal recessive
504476,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,Disease,Disorder,,0044720,G11.2,614575,C3281223,C000726747,10078216,,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,"Adult, Elderly",Autosomal recessive
504523,Severe combined immunodeficiency due to LAT deficiency,Disease,Disorder,4A01.10,0044721,D81.2,617514,C4479588,,,,Severe combined immunodeficiency due to LAT deficiency,Infancy,Autosomal recessive
504530,Combined immunodeficiency due to Moesin deficiency,Disease,Disorder,4A01.1Y,0010514,D81.8,300988,C5568123,,,,Combined immunodeficiency due to Moesin deficiency,Childhood,X-linked recessive
26823,NON RARE IN EUROPE: Pigment-dispersion syndrome,Disease,Disorder,,,,,,,,,,,
26793,Very long chain acyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0008723,E71.3,201475,C3887523,C536353,10072656,5508,Very long chain acyl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
29072,Hereditary pheochromocytoma-paraganglioma,Disease,Disorder,5A75,0017366,D35.6,614165,C4274332,,,11984,Hereditary pheochromocytoma-paraganglioma,Childhood,Autosomal dominant
28378,Tyrosinemia type 2,Disease,Disorder,5C50.12,0010160,E70.2,276600,C0268487,,10069463,3105,Tyrosinemia type 2,"Adolescent, Childhood, Infancy, Neonatal",Autosomal recessive
28455,OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus,Disease,Disorder,,,,,,,,,,,
29207,Reactive arthritis,Disease,Disorder,FA11.2,0017376,M02.3,,C0085435,D016918,10003267,5693,Reactive arthritis,"Adolescent, Adult, Elderly","Multigenic/multifactorial, Not applicable"
29073,Multiple myeloma,Disease,Disorder,2A83.1,0009693,C90.0,254500,C0026764,D009101,10028228,7108,Multiple myeloma,Adult,Not applicable
29822,Spontaneous periodic hypothermia,Disease,Disorder,8D80,0017577,G90.8,,C2931542,C537594,,4815,Spontaneous periodic hypothermia,All ages,Unknown
30391,Isolated biliary atresia,Morphological anomaly,Disorder,LB20.21,0008867,Q44.2,210500,C0005411,D001656,10004654,12010,Isolated biliary atresia,"Antenatal, Infancy, Neonatal",Multigenic/multifactorial
320,Apparent mineralocorticoid excess,Disease,Disorder,5A76.Y,0009025,E26.8,218030,C0342488,D043204,10080229,433,Apparent mineralocorticoid excess,"Infancy, Neonatal",Autosomal recessive
724,Idiopathic acute eosinophilic pneumonia,Disease,Disorder,CB02.10,0019122,J82,,C4518469,,,519,Idiopathic acute eosinophilic pneumonia,All ages,Unknown
230,Dopamine beta-hydroxylase deficiency,Disease,Disorder,5C59.00,0009123,G90.8,223360,C0342687,C535600,,1903,Dopamine beta-hydroxylase deficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
725,Developmental and epileptic encephalopathy with spike-wave activation in sleep,Disease,Disorder,8A62.Y,0019123,G40.4,245570,C5552731,,10078827,1513,Developmental and epileptic encephalopathy with spike-wave activation in sleep,Childhood,"Autosomal dominant, Not applicable"
590,Congenital myasthenic syndrome,Disease,Disorder,8C61,0018940,G70.2,616324,C0751882,D020294,10083942,11902,Congenital myasthenic syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
404,Familial hyperaldosteronism type II,Disease,Disorder,5A72.0,0011576,E26.0,605635,C1854107,C565312,,2789,Familial hyperaldosteronism type II,Adult,Autosomal dominant
756,Pseudohypoaldosteronism type 1,Disease,Disorder,GB90.41,0019161,N25.8,264350,C0268436,,,,Pseudohypoaldosteronism type 1,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
162,Congenital cataract-anterior segment dysgenesis syndrome,Malformation syndrome,Disorder,LA11.2,0015567,Q12.0,,C5925037,,,1160,Congenital cataract-anterior segment dysgenesis syndrome,"Infancy, Neonatal",Autosomal dominant
544,Diffuse large B-cell lymphoma,Clinical group,Group of disorders,2A81,0018905,C83.3,,C0079744,D016403,10012818,3178,Diffuse large B-cell lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
545,Follicular lymphoma,Disease,Disorder,2A80,0018906,C82.0,613024,C0024301,D008224,10085128,2356,Follicular lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
88,Idiopathic aplastic anemia,Disease,Disorder,3A70.12,0012197,D61.3,614743,C0348890,C538494,10054580,,Idiopathic aplastic anemia,Adult,Unknown
102,Multiple system atrophy,Disease,Disorder,8D87.0,0007803,G23.2,146500,C0393571,D019578,10064060,7079,Multiple system atrophy,Adult,"Multigenic/multifactorial, Not applicable"
824,Primary myelofibrosis,Disease,Disorder,2A20.2,0009692,D47.4,254450,C0001815,D055728,10077161,8618,Primary myelofibrosis,Adult,Not applicable
748,Mendelian susceptibility to mycobacterial diseases,Clinical group,Group of disorders,,0019146,,,C3266863,,,12977,Mendelian susceptibility to mycobacterial diseases,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
729,Polycythemia vera,Disease,Disorder,2A20.4,9891,D45,263300,C0032463,D011087,10036057,7422,Polycythemia vera,All ages,Not applicable
25980,X-linked myopathy with excessive autophagy,Disease,Disorder,4A41.21,0010684,G71.8,310440,C1839615,C564093,,3892,X-linked myopathy with excessive autophagy,"Adolescent, Adult, Childhood, Infancy, Neonatal",X-linked recessive
26137,Juvenile temporal arteritis,Disease,Disorder,4A44.Y,0016848,L95.8,,C0751547,,,3068,Juvenile temporal arteritis,Childhood,Unknown
26106,Hereditary diffuse gastric cancer,Disease,Disorder,2B72.Y,0007648,C16.9,137215,C4721859,,,10900,Hereditary diffuse gastric cancer,Adult,Autosomal dominant
505395,Ventilator-induced diaphragmatic dysfunction,Particular clinical situation in a disease or syndrome,Disorder,NE8Y,,J95.8,,C5680083,,,,Ventilator-induced diaphragmatic dysfunction,All ages,
25968,Self-limited childhood occipital epilepsy,Disease,Disorder,8A61.2Y,0007558,G40.0,132090,C1851549,,,2170,Self-limited childhood occipital epilepsy,"Adolescent, Childhood, Infancy",Not applicable
807,Sebastian syndrome,Clinical subtype,Subtype of disorder,,,,,C1854520,C537531,,,,,
26790,Pseudomyxoma peritonei,Disease,Disorder,2D91,0017048,C78.6,,C0033822,D011553,10037138,7488,Pseudomyxoma peritonei,Adult,Unknown
26792,Short chain acyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0008722,E71.3,201470,C0342783,C537596,10072655,4822,Short chain acyl-CoA dehydrogenase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
26791,Multiple acyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0009282,E71.3,231680,C0268596,D054069,10090590,6523,Multiple acyl-CoA dehydrogenase deficiency,All ages,Autosomal recessive
26348,Acquired prothrombin deficiency,Disease,Disorder,3B2Y,0016990,D68.4,,C0392610,C538174,,,,,
26349,Protein S acquired deficiency,Disease,Disorder,3B61.1,0012868,D68.8,,C2363755,C567077,10068370,,Protein S acquired deficiency,,Not applicable
620,NON RARE IN EUROPE: Common mesentery,Morphological anomaly,Disorder,,,,,,,,,,,
831,Congenital cervical spinal stenosis,Disease,Disorder,,0019357,Q06.8,,C4749275,,,,Congenital cervical spinal stenosis,"Adolescent, Adult",
49,Penile agenesis,Morphological anomaly,Disorder,LB50,0018846,Q55.5,,C4551491,C536649,10087156,4272,Penile agenesis,"Antenatal, Neonatal",
227,Diphallia,Morphological anomaly,Disorder,LB5Y,0016416,Q55.6,,C0345322,,,1872,Diphallia,"Infancy, Neonatal",
674,Accessory pancreas,Morphological anomaly,Disorder,LB21.2,0019034,Q45.3,,C0266268,C536003,10056987,454,Accessory pancreas,"Infancy, Neonatal",Not applicable
386,Hepatic cystic hamartoma,Disease,Disorder,2E92.7,0018308,D13.4,,C1333971,,10074610,2651,,,
266,Autosomal dominant limb-girdle muscular dystrophy type 1A,Disease,Disorder,,,,,C4304304,,,10229,,,
264,Autosomal dominant limb-girdle muscular dystrophy type 1B,Disease,Disorder,,,,,C1834653,,,,,,
353,Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,Disease,Disorder,8C70.41,0009677,G71.0,253700,C0410173,C535900,,2429,Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,Childhood,Autosomal recessive
219,Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,Disease,Disorder,8C70.41,0011028,G71.0,601287,C1832525,C535896,,8573,Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,Childhood,Autosomal recessive
641,Multifocal motor neuropathy,Disease,Disorder,8C01.3,0018979,G61.8,,C0393847,,10065579,11011,Multifocal motor neuropathy,Adult,Unknown
119,Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,Disease,Disorder,8C70.41,0011423,G71.0,604286,C1858593,C535902,,3851,Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,"Adolescent, Childhood",Autosomal recessive
603,"Distal myopathy, Welander type",Disease,Disorder,8C75,0011466,G71.0,604454,C0221054,,10078052,5552,"Distal myopathy, Welander type",Adult,Autosomal dominant
505227,Combined immunodeficiency due to GINS1 deficiency,Disease,Disorder,4A01.1Y,0044725,D81.8,617827,C5568132,,,,Combined immunodeficiency due to GINS1 deficiency,"Antenatal, Neonatal",Autosomal recessive
588,Muscle-eye-brain disease,Malformation syndrome,Disorder,8C70.6,0018939,G71.0,615350,C0457133,,10089751,156,Muscle-eye-brain disease,"Antenatal, Infancy, Neonatal",Autosomal recessive
505237,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,Malformation syndrome,Disorder,,0044319,Q87.8,617452,C5568770,,,,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,Infancy,Autosomal recessive
899,Walker-Warburg syndrome,Disease,Disorder,8C70.6,0000171,G71.0,616538,C0265221,D058494,,2599,Walker-Warburg syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
505216,3-methylglutaconic aciduria type 9,Disease,Disorder,5C50.E0,0044724,E71.1,617698,C4540171,,,,3-methylglutaconic aciduria type 9,Infancy,Autosomal recessive
272,"Congenital muscular dystrophy, Fukuyama type",Malformation syndrome,Disorder,8C70.6,0009678,G71.0,253800,C0410174,,,6475,"Congenital muscular dystrophy, Fukuyama type",Infancy,Autosomal recessive
505208,3-methylglutaconic aciduria type 8,Disease,Disorder,5C50.E0,0044723,E71.1,617248,C5680084,,,,3-methylglutaconic aciduria type 8,Neonatal,Autosomal recessive
265,Autosomal dominant limb-girdle muscular dystrophy type 1C,Disease,Disorder,,,,,C1832567,,,,,,
268,Dysferlin-related limb-girdle muscular dystrophy R2,Disease,Disorder,8C70.41,0009676,G71.0,253601,C1850889,C535899,,8574,Dysferlin-related limb-girdle muscular dystrophy R2,"Adolescent, Adult",Autosomal recessive
278,OBSOLETE: Corticobasal degeneration,Disease,Disorder,,,,,,,,,,,
263,Limb-girdle muscular dystrophy,Clinical group,Group of disorders,8C70.4,0016971,,,C0686353,D049288,,6907,Limb-girdle muscular dystrophy,All ages,"Autosomal dominant, Autosomal recessive"
600,Vocal cord and pharyngeal distal myopathy,Disease,Disorder,8C75,0018951,G71.0,606070,C1853723,C565262,,1887,Vocal cord and pharyngeal distal myopathy,Adult,Autosomal dominant
505248,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,Malformation syndrome,Disorder,,0015012,Q87.8,617303,C5568800,,,,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,Infancy,Autosomal recessive
609,Tibial muscular dystrophy,Disease,Disorder,8C75,0010870,G71.0,600334,C1450052,,,,Tibial muscular dystrophy,Adult,"Autosomal dominant, Autosomal recessive"
602,GNE myopathy,Disease,Disorder,8C75,0011603,G71.8,617158,C1853926,C536816,10077945,9493,GNE myopathy,"Adolescent, Adult","Autosomal dominant, Autosomal recessive"
505242,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,Disease,Disorder,,0044726,E83.2,617595,C5568771,,,,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,Infancy,Autosomal recessive
508093,MEPAN syndrome,Malformation syndrome,Disorder,,0015003,E88.8,617282,C4310634,,,13488,MEPAN syndrome,"Childhood, Infancy",Autosomal recessive
508533,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,Disease,Disorder,,0033682,Q87.8,617425,C5567899,,,,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,"Antenatal, Neonatal",Autosomal recessive
508542,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,Disease,Disorder,,0033683,Q87.8,618116,C5567897,,,,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,Neonatal,Autosomal recessive
508410,Familial intestinal malrotation,Morphological anomaly,Disorder,,0034819,Q43.3,,C0221210,,,,Familial intestinal malrotation,All ages,
508512,Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,Disease,Disorder,,0034991,Q87.1,618097,C5567901,,,,Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,"Antenatal, Neonatal",Autosomal recessive
508529,Intermediate epidermolysis bullosa simplex with cardiomyopathy,Disease,Disorder,,0015006,Q81.0,617294,C5555869,,,,Intermediate epidermolysis bullosa simplex with cardiomyopathy,Neonatal,Autosomal dominant
508523,Hyperphenylalaninemia due to DNAJC12 deficiency,Disease,Disorder,,0044304,E70.1,617384,C5567900,,,,Hyperphenylalaninemia due to DNAJC12 deficiency,Infancy,Autosomal recessive
508488,8q24.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.80,0014263,Q93.5,615583,C3810023,,,12814,8q24.3 microdeletion syndrome,"Antenatal, Neonatal",Not applicable
508476,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,Malformation syndrome,Disorder,LD25.Y,0034820,Q87.8,621063,C5568767,,,,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,Neonatal,Autosomal recessive
508501,Orofaciodigital syndrome type 18,Malformation syndrome,Disorder,,0034823,Q87.0,617927,C5567903,,,,Orofaciodigital syndrome type 18,Neonatal,Autosomal recessive
508498,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,Malformation syndrome,Disorder,LD2F.1Y,0034989,Q87.8,615583,C5568572,,,,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,"Infancy, Neonatal",Autosomal dominant
505652,CDKL5-deficiency disorder,Disease,Disorder,,0010396,G40.4,300672,C4750718,C564064,10083005,12173,CDKL5-deficiency disorder,"Infancy, Neonatal",X-linked dominant
506784,Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome,Clinical subtype,Subtype of disorder,EB13.2,0044739,L51.2,,C3661878,,,,,,
506334,Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,Disease,Disorder,,,E88.8,617575,C5568768,,,13818,Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,,Autosomal recessive
506307,Stromme syndrome,Malformation syndrome,Disorder,,9477,Q13.8,243605,C1855705,C565460,,,Stromme syndrome,Antenatal,Autosomal recessive
506358,Gabriele-de Vries syndrome,Malformation syndrome,Disorder,,0044738,Q87.8,617557,C4479652,,,,Gabriele-de Vries syndrome,"Antenatal, Neonatal",Autosomal dominant
506353,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,Disease,Disorder,,0044737,G11.4,618768,C5568576,,,,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,"Childhood, Infancy",Autosomal recessive
506216,Rare disorder potentially indicated for bowel transplant,Category,Group of disorders,,,,,C5681213,,,,,,
506219,Rare disorder potentially indicated for hematopoietic stem cell transplant,Category,Group of disorders,,,,,C5681214,,,,,,
506222,Rare disorder potentially indicated for lung transplant,Category,Group of disorders,,,,,C5681215,,,,,,
506225,Rare disorder potentially indicated for heart transplant,Category,Group of disorders,,,,,C5681216,,,,,,
506136,Neuroendocrine neoplasm of esophagus,Disease,Disorder,2B70.Y,0003649,C15.8,,C1333462,,,,,,
506207,Rare disorder potentially indicated for transplant,Category,Group of disorders,,,,,C5681217,,,,,,
506210,Rare disorder potentially indicated for liver transplant,Category,Group of disorders,,,,,C5681218,,,,,,
506213,Rare disorder potentially indicated for kidney transplant,Category,Group of disorders,,,,,C5681219,,,,,,
506090,Serotonin-producing neuroendocrine tumor of pancreas,Disease,Disorder,2C10.1,,C25.4,,C0345933,,,,,,
506098,Neuroendocrine carcinoma of pancreas,Disease,Disorder,2C10.1,5893,C25.9,,C2205506,,,,,,
506112,Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas,Disease,Disorder,2C10.Y,0044727,C25.9,,C5568577,,,,,,
506124,OBSOLETE: Neuroendocrine tumor of small intestine,Category,Group of disorders,,,,,,,,,,,
506052,Neuroendocrine neoplasm of pancreas,Category,Group of disorders,2C10.1,0005815,,,C5848399,,,,,,
506060,Functioning neuroendocrine tumor of pancreas,Category,Group of disorders,,0023206,,,C1708107,,,,Functioning neuroendocrine tumor of pancreas,"Adult, Elderly",
506075,Non-functioning neuroendocrine tumor of pancreas,Disease,Disorder,2C10.1,0004334,C25.4,,C1334977,C536126,,,Non-functioning neuroendocrine tumor of pancreas,"Adult, Elderly",
495274,Charcot-Marie-Tooth disease type 2T,Disease,Disorder,,0044640,G60.0,617017,C4015635,,,,Charcot-Marie-Tooth disease type 2T,Adult,Autosomal recessive
495844,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,Disease,Disorder,,0044642,G93.8,616881,C5567456,,,,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,Infancy,Autosomal recessive
495818,9q33.3q34.11 microdeletion syndrome,Malformation syndrome,Disorder,,0044641,Q93.5,,C5680085,,,,9q33.3q34.11 microdeletion syndrome,"Childhood, Infancy",Not applicable
495879,Congenital agenesis of the scrotum,Morphological anomaly,Disorder,,0044644,Q55.2,,C1387020,,,,Congenital agenesis of the scrotum,Neonatal,
495875,Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0044643,Q87.8,618479,C5567455,,,,Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,Neonatal,Autosomal recessive
495930,Familial monosomy 7 syndrome,Disease,Disorder,,0044645,D46.7,252270,C5681220,,,3765,Familial monosomy 7 syndrome,"Childhood, Infancy",
496641,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,Malformation syndrome,Disorder,,0044646,G93.4,617193,C5567454,,,,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,"Infancy, Neonatal",Autosomal recessive
496686,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,Disease,Disorder,,0044647,G71.2,617114,C5567453,,,,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
496689,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,Disease,Disorder,,0044648,G11.4,,C5567452,,,,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,"Infancy, Neonatal",Autosomal recessive
496693,Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,Malformation syndrome,Disorder,LD2F.1Y,0044649,Q87.8,609545,C1836007,C563701,,10354,Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,"Antenatal, Neonatal",
496751,EVEN-plus syndrome,Malformation syndrome,Disorder,,0014801,Q87.8,616854,C4225180,,,,EVEN-plus syndrome,Antenatal,Autosomal recessive
496756,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,Disease,Disorder,,0044651,G31.8,617207,C5567451,,,,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,"Infancy, Neonatal",Autosomal recessive
496790,Ocular anomalies-axonal neuropathy-developmental delay syndrome,Disease,Disorder,5D0Y,0014958,E88.8,617183,C4310677,,,,Ocular anomalies-axonal neuropathy-developmental delay syndrome,"Infancy, Neonatal",Autosomal dominant
494433,MIRAGE syndrome,Disease,Disorder,5A70.Y,0014888,D46.7,617053,C4284088,,,13108,MIRAGE syndrome,"Antenatal, Neonatal",Autosomal dominant
494439,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0044634,Q87.8,617763,C5567466,,,,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,"Childhood, Infancy",Autosomal recessive
494424,Extracranial carotid artery aneurysm,Morphological anomaly,Disorder,BD51.0,0044632,I72.0,,C0340639,,,,Extracranial carotid artery aneurysm,"Adult, Elderly",
494428,Idiopathic pleuroparenchymal fibroelastosis,Disease,Disorder,CB03.Y,0044633,J84.1,,C5567467,,,,Idiopathic pleuroparenchymal fibroelastosis,"Adolescent, Adult, Elderly",
494451,Vulvar basal cell carcinoma,Histopathological subtype,Subtype of disorder,2C70.0,0002955,C51.8,,C1336977,,10082639,,Vulvar basal cell carcinoma,"Adult, Elderly",
494454,Vulvar adenocarcinoma,Histopathological subtype,Subtype of disorder,,0024336,C51.8,,C1336975,,10063536,,Vulvar adenocarcinoma,"Adult, Elderly",
494444,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,Disease,Disorder,LD2H.Y,0044635,H90.3,124900,C1852282,C565121,,,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
494448,Vulvar squamous cell carcinoma,Histopathological subtype,Subtype of disorder,2C70.2,0024609,C51.8,,C0280856,,10041875,,Vulvar squamous cell carcinoma,"Adult, Elderly",
494344,RERE-related neurodevelopmental syndrome,Malformation syndrome,Disorder,,14857,Q87.8,616975,C5567477,,,,RERE-related neurodevelopmental syndrome,"Antenatal, Neonatal",Autosomal dominant
494418,Vulvar carcinoma,Disease,Disorder,2C70,0005215,C51.8,,C0677055,,,9349,Vulvar carcinoma,"Adult, Elderly",
494421,Sacrococcygeal teratoma,Clinical subtype,Subtype of disorder,,0042727,C41.4,,C0559459,,,319,Sacrococcygeal teratoma,All ages,
494348,Early-onset familial noncirrhotic portal hypertension,Disease,Disorder,,,,617068,,,,,,,
494547,Squamous cell carcinoma of the hypopharynx,Disease,Disorder,2B6D.0,0044638,C13.2,275355,C0280321,,10041849,,Squamous cell carcinoma of the hypopharynx,"Adult, Elderly",Not applicable
494541,Childhood-onset benign chorea with striatal involvement,Disease,Disorder,,0044332,G25.5,616922,C5567463,,,,Childhood-onset benign chorea with striatal involvement,Childhood,Autosomal dominant
494526,Infantile-onset generalized dyskinesia with orofacial involvement,Disease,Disorder,,0044637,G24.8,616921,C5567464,,,,Infantile-onset generalized dyskinesia with orofacial involvement,Infancy,Autosomal recessive
494457,Rare hyperkinetic movement disorder,Category,Group of disorders,,,,,C5681221,,,,,,
494550,Squamous cell carcinoma of the larynx,Disease,Disorder,,0005595,C32.8,275355,C0280324,,10023856,,Squamous cell carcinoma of the larynx,"Adolescent, Adult, Childhood, Elderly",Not applicable
500180,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,Disease,Disorder,,0044701,G31.8,617672,C5567227,,,13658,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,Childhood,Autosomal dominant
500188,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,Malformation syndrome,Disorder,LD2H.Y,0044702,H91.8,301018,C5567226,,,,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,Neonatal,X-linked recessive
68,Amoebiasis due to free-living amoebae,Disease,Disorder,1A36.12,0019036,B60.2,,C0153326,,,12650,Amoebiasis due to free-living amoebae,All ages,Not applicable
781,Q fever,Disease,Disorder,DB98.3,0019186,A78,,C0034362,D011778,10037688,7515,Q fever,All ages,Not applicable
500150,ZTTK syndrome,Malformation syndrome,Disorder,,0014936,Q87.8,617140,C4310696,,10081208,13489,ZTTK syndrome,Neonatal,Autosomal dominant
500159,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,Malformation syndrome,Disorder,,0030913,Q87.0,617751,C4540321,,,,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,"Childhood, Infancy",Autosomal dominant
500163,Witteveen-Kolk syndrome,Malformation syndrome,Disorder,,0044699,Q87.8,613406,C4310804,,,,Witteveen-Kolk syndrome,"Antenatal, Neonatal",Autosomal dominant
302,Inherited epidermodysplasia verruciformis,Disease,Disorder,1E83,0009176,B07,618267,C0014522,D004819,10052339,6357,Inherited epidermodysplasia verruciformis,All ages,Autosomal recessive
297,Tick-borne encephalitis,Disease,Disorder,1C80,0017572,A84.9,,C0014061,D004675,10043847,5216,Tick-borne encephalitis,All ages,Not applicable
500166,SIN3-related intellectual disability syndrome due to a point mutation,Etiological subtype,Subtype of disorder,,0044700,Q87.8,613406,C5925038,,,,SIN3-related intellectual disability syndrome due to a point mutation,"Antenatal, Infancy, Neonatal",Autosomal dominant
182,Chromomycosis,Disease,Disorder,1F24,0015908,B43.8,,C0008582,D002862,10008803,1319,Chromomycosis,All ages,Not applicable
128,Diphyllobothriasis,Disease,Disorder,1F71,0015260,B70.0,,C0012561,D004169,10013029,942,Diphyllobothriasis,All ages,Not applicable
283,Demodicidosis,Disease,Disorder,1G07.0,0017280,B88.0,,C0392666,,10075310,1802,,,
210,Cyclosporiasis,Disease,Disorder,1A3Y,0005725,A07.3,,C4274225,,,9528,Cyclosporiasis,All ages,Not applicable
76,Strongyloidiasis,Disease,Disorder,1F6B,0005974,B78.7,,C0038463,D013322,10042254,8195,Strongyloidiasis,All ages,Not applicable
74,Angiostrongyliasis,Disease,Disorder,1F60.1,0019143,B83.2,,C0392662,C536369,10069517,683,Angiostrongyliasis,All ages,Not applicable
108,Babesiosis,Disease,Disorder,1F52,0005661,B60.0,,C0004576,D001404,10003965,5878,Babesiosis,All ages,Not applicable
78,Ankylostomiasis,Disease,Disorder,1F68.0,0005645,B76.0,,C0002831,D000724,10002255,9742,Ankylostomiasis,All ages,Not applicable
500135,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,Malformation syndrome,Disorder,,0009359,Q87.8,236500,C1856053,,,,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,Antenatal,Autosomal recessive
500144,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,Malformation syndrome,Disorder,,0044696,Q07.8,617669,C5567229,,,,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,Neonatal,Autosomal recessive
500055,Hao-Fountain syndrome due to 16p13.2 microdeletion,Etiological subtype,Subtype of disorder,,0100528,Q93.5,616863,C5680086,,,,Hao-Fountain syndrome due to 16p13.2 microdeletion,"Childhood, Infancy",Not applicable
500095,Tall stature-intellectual disability-renal anomalies syndrome,Malformation syndrome,Disorder,LD2C,0014918,Q87.3,617107,C4310715,,,,Tall stature-intellectual disability-renal anomalies syndrome,"Antenatal, Neonatal",Autosomal recessive
500062,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,Disease,Disorder,4A60.Y,0014912,D89.8,617099,C4310614,,,13198,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,"Infancy, Neonatal",Autosomal recessive
129,Pseudopelade of Brocq,Disease,Disorder,ED70.5Y,0015261,L66.0,,C0086873,,,4536,Pseudopelade of Brocq,Adult,Not applicable
123,Björnstad syndrome,Disease,Disorder,EC21.1,0009872,E88.8,262000,C0266006,C537633,,22,Björnstad syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
898,Wagner disease,Disease,Disorder,9B80,0007740,H35.5,143200,C1840452,C536075,10063383,7871,Wagner disease,Childhood,Autosomal dominant
500478,Squamous cell carcinoma of the oropharynx,Disease,Disorder,2B6A.0,0044704,C10.8,275355,C0280313,,10031112,,Squamous cell carcinoma of the oropharynx,"Adolescent, Adult, Elderly",Not applicable
518,Acute megakaryoblastic leukemia,Disease,Disorder,2A60.36,0018872,C94.2,,C0023462,D007947,10000860,524,Acute megakaryoblastic leukemia,"Adult, Childhood",Not applicable
500481,OBSOLETE: Squamous cell carcinoma of salivary glands,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
318,Acute erythroid leukemia,Disease,Disorder,2A60.35,0017858,C94.0,133180,C0023440,D004915,10000739,9620,Acute erythroid leukemia,"Adolescent, Adult, Childhood, Elderly",Not applicable
514,Acute monoblastic/monocytic leukemia,Disease,Disorder,2A60.34,0007896,C93.0,,C3831784,D007948,,525,Acute monoblastic/monocytic leukemia,Childhood,Not applicable
517,Acute myelomonocytic leukemia,Disease,Disorder,2A60.33,0018871,C92.5,,C0023479,D015479,10000890,529,Acute myelomonocytic leukemia,Adult,Not applicable
505,Graham Little-Piccardi-Lassueur syndrome,Disease,Disorder,EA91.2,0018858,L66.1,,C4273658,,,3195,Graham Little-Piccardi-Lassueur syndrome,Adult,
346,Quinquaud folliculitis decalvans,Disease,Disorder,ED70.50,0018103,L66.2,,C2608043,,10063921,373,Quinquaud folliculitis decalvans,Adult,Not applicable
222,Erosive pustular dermatosis of the scalp,Disease,Disorder,EG30.1,0016379,L98.8,,C0406464,,,2188,Erosive pustular dermatosis of the scalp,"Adolescent, Adult, Childhood, Elderly",Not applicable
202,Crandall syndrome,Disease,Disorder,,0016067,,,C0432348,,,1561,,,
170,Woolly hair,Disease,Disorder,EC21.0,0008686,Q84.1,616760,C0343073,C536745,10048017,5597,Woolly hair,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
500548,Osteosclerotic metaphyseal dysplasia,Malformation syndrome,Disorder,,0014080,Q78.5,615198,C3554665,,,,Osteosclerotic metaphyseal dysplasia,Infancy,Autosomal recessive
169,Ringed hair disease,Disease,Disorder,EC21.0,0008388,Q84.1,180600,C0263489,C537187,,4359,Ringed hair disease,Childhood,"Autosomal dominant, Not applicable"
500533,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,Disease,Disorder,,0012611,G40.4,611087,C1970203,C567020,,12913,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
168,Loose anagen syndrome,Disease,Disorder,EC21.0,0010908,L65.1,600628,C0406468,D058247,10085066,3287,Loose anagen syndrome,Childhood,Autosomal dominant
500545,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,Disease,Disorder,,0044306,F84.8,617393,C5568106,,,,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,"Infancy, Neonatal",Autosomal dominant
345,Dissecting cellulitis of the scalp,Disease,Disorder,ED70.51,0009848,L66.3,260910,C0263506,C562486,10056961,1883,Dissecting cellulitis of the scalp,Adult,Not applicable
591,Furuncular myiasis,Disease,Disorder,1G01.3,0018941,B87.0,,C2931766,C538194,,2418,Furuncular myiasis,All ages,Not applicable
723,Pneumocystosis,Disease,Disorder,1F2G,0019121,J17.2*,,C5779637,D011020,10035662,4386,Pneumocystosis,All ages,Not applicable
472,Isosporiasis,Disease,Disorder,1A33,0018769,A07.3,,C0311386,D021865,10023076,3033,Isosporiasis,All ages,Not applicable
504,Creeping myiasis,Disease,Disorder,1G01.3,0018857,B87.0,,C1562462,D007815,,1609,Creeping myiasis,,Not applicable
401,Hymenolepiasis,Disease,Disorder,1F74,0005802,B71.0,,C0020413,D006925,10020546,2787,Hymenolepiasis,All ages,Not applicable
430,OBSOLETE: Hypodermyiasis,Disease,Disorder,,,,,,,,,,,
390,Histoplasmosis,Disease,Disorder,1F2A,0018312,B39.9,,C0019655,D006660,10020141,,,,
400,Cystic echinococcosis,Disease,Disorder,1F73.Z,0018408,B67.9,,C4553297,D004443,10014096,2764,Cystic echinococcosis,Adult,Not applicable
500464,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,Disease,Disorder,,,D02.3,275355,C0280332,,,,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,"Adult, Elderly",Not applicable
520,Acute promyelocytic leukemia,Disease,Disorder,2A60.0,0012883,C92.4,612376,C0023487,D015473,10001019,538,Acute promyelocytic leukemia,"Adolescent, Adult, Childhood, Elderly",Not applicable
450,Visceral heterotaxy,Category,Group of disorders,,0018677,Q89.3,617205,C3178805,D059446,10067265,10875,Visceral heterotaxy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
529,Roch-Leri mesosomatous lipomatosis,Disease,Disorder,,0018884,E88.2,,C4274284,,,4733,Roch-Leri mesosomatous lipomatosis,No data available,Autosomal dominant
224,Neonatal diabetes mellitus,Category,Group of disorders,KB60.2,0016391,P70.2,,C0158981,,10028933,,Neonatal diabetes mellitus,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
826,Sporotrichosis,Disease,Disorder,1F2J,0005968,B42.9,,C0038034,D013174,10041736,7692,Sporotrichosis,All ages,Not applicable
879,Tungiasis,Disease,Disorder,1G05,0019498,B88.1,,C0277356,D058285,,393,Tungiasis,All ages,Not applicable
502305,Cochleovestibular malformation,Morphological anomaly,Disorder,LA22.4,44709,Q16.5,,C5761642,,,,Cochleovestibular malformation,Neonatal,
502318,Cochlear nerve deficiency,Morphological anomaly,Disorder,AB72.Y,0034733,H93.3,,C5568535,,,,Cochlear nerve deficiency,Neonatal,
502363,Squamous cell carcinoma of the oral cavity,Disease,Disorder,,0004958,C06.9,275355,C0585362,,10041857,,Squamous cell carcinoma of the oral cavity,"Adolescent, Adult, Childhood, Elderly",Not applicable
502366,Squamous cell carcinoma of the lip,Disease,Disorder,2B60.1,0021427,C00.1,275355,C0280302,,10064055,,Squamous cell carcinoma of the lip,"Adult, Elderly",Not applicable
502369,Squamous cell carcinoma of oral cavity and lip,Category,Group of disorders,,0044710,,,C0280297,,,,,,
502423,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,Disease,Disorder,,0044714,G71.3,617675,C4540096,,,,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,"Adult, Infancy",Autosomal dominant
502430,Weiss-Kruszka Syndrome,Malformation syndrome,Disorder,,0044715,Q87.8,618619,C5568107,,,,Weiss-Kruszka Syndrome,"Antenatal, Neonatal",Autosomal dominant
502434,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,Malformation syndrome,Disorder,,0030912,Q87.0,617635,C5568769,,,,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
502437,4q25 proximal deletion syndrome,Malformation syndrome,Disorder,,0044717,Q93.5,,C5680087,,,,4q25 proximal deletion syndrome,Infancy,
502499,Erythema multiforme major,Disease,Disorder,,0044719,L51.8,,C3241919,,,,Erythema multiforme major,All ages,
502444,Alkaline ceramidase 3 deficiency,Disease,Disorder,,0044718,E75.2,617762,C4540358,,,,Alkaline ceramidase 3 deficiency,Infancy,Autosomal recessive
432,Normosmic congenital hypogonadotropic hypogonadism,Clinical subtype,Subtype of disorder,5A61.0,0018555,E23.0,615270,C5680088,,,,Normosmic congenital hypogonadotropic hypogonadism,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive"
91,Aromatase deficiency,Disease,Disorder,5A9Y,0013301,E25.8,613546,C1960539,C537436,,365,Aromatase deficiency,All ages,Autosomal recessive
785,Estrogen resistance syndrome,Disease,Disorder,5A90,0014148,E30.8,615363,C4510972,,,,Estrogen resistance syndrome,Adolescent,Autosomal recessive
625,NON RARE IN EUROPE: Atypical mole,Disease,Disorder,,,,,,,,,,,
873,Desmoid tumor,Disease,Disorder,,0007608,D48.1,135290,C0079218,,10059352,1820,Desmoid tumor,"Adolescent, Adult","Not applicable, Unknown"
553,OBSOLETE: Cushing syndrome,Clinical group,Group of disorders,,,,,,,,,,,
679,Malignant atrophic papulosis,Clinical subtype,Subtype of disorder,EF5Y,0011208,I77.8,602248,C0221011,D054853,10064281,6249,Malignant atrophic papulosis,Adult,Autosomal dominant
901,Wells syndrome,Disease,Disorder,EB30,0019547,L98.3,,C0343101,C536693,10053776,329,Wells syndrome,Adult,Not applicable
703,Bullous pemphigoid,Disease,Disorder,EB41.0,0019082,L12.0,,C0030805,D010391,10006567,5972,Bullous pemphigoid,All ages,Not applicable
841,Sebocystomatosis,Disease,Disorder,2F22,0008485,L72.2,184500,C0259771,D062685,10048905,5003,Sebocystomatosis,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
817,Peeling skin syndrome,Clinical group,Group of disorders,EC20.1,0019347,,,C1849193,C564818,,7347,Peeling skin syndrome,"Infancy, Neonatal",Autosomal recessive
830,NON RARE IN EUROPE: Stuccokeratosis,Disease,Disorder,,,,,,,,,,,
867,Familial multiple trichoepithelioma,Clinical subtype,Subtype of disorder,2F22,0011114,D23.5,612099,C1275122,,,,Familial multiple trichoepithelioma,Childhood,Autosomal dominant
735,Porokeratosis of Mibelli,Disease,Disorder,ED52,0019141,Q82.8,175900,C0949506,,,4438,Porokeratosis of Mibelli,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
497906,Childhood-onset basal ganglia degeneration syndrome,Disease,Disorder,,0014889,G31.8,617054,C4310743,,,,Childhood-onset basal ganglia degeneration syndrome,"Childhood, Infancy",Autosomal recessive
659,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,Disease,Disorder,EC20.30,0031421,Q82.8,619208,C0406761,,10068842,4075,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,"Childhood, Infancy, Neonatal","Autosomal dominant, Not applicable, X-linked recessive"
737,Porokeratosis plantaris palmaris et disseminata,Disease,Disorder,EC20.32,0008291,Q82.8,175850,C0162838,,,,Porokeratosis plantaris palmaris et disseminata,"Adolescent, Adult","Autosomal dominant, X-linked dominant"
736,Palmoplantar porokeratosis of Mantoux,Disease,Disorder,,,,,,,,,,,
497623,C12ORF65-related combined oxidative phosphorylation defect,Clinical group,Group of disorders,,,,,C5680089,,,,C12ORF65-related combined oxidative phosphorylation defect,All ages,
523,Hereditary leiomyomatosis and renal cell cancer,Disease,Disorder,2C90.Y,0007888,C64,150800,C1708350,C535516,10077859,10096,Hereditary leiomyomatosis and renal cell cancer,"Adolescent, Adult, Elderly",Autosomal dominant
497737,Epidermolytic nevus,Disease,Disorder,LC00.Y,0044656,Q82.5,,C1302848,,,,Epidermolytic nevus,All ages,
314,Erythroderma desquamativum,Disease,Disorder,EH40.2,0017787,L21.1,609536,C5551904,,,6878,Erythroderma desquamativum,Infancy,Autosomal recessive
623,NAME syndrome,Disease,Disorder,,,,,,,,,,,
497757,MME-related autosomal dominant Charcot Marie Tooth disease type 2,Disease,Disorder,,0044657,G60.0,617017,C5567450,,,,MME-related autosomal dominant Charcot Marie Tooth disease type 2,Adult,Autosomal dominant
497764,Spinocerebellar ataxia type 43,Disease,Disorder,8A03.16,0014867,G11.2,617018,C4310763,,,,Spinocerebellar ataxia type 43,"Adult, Elderly",Autosomal dominant
530,Lipoid proteinosis,Malformation syndrome,Disorder,LD27.Y,0009530,E78.8,247100,C0023795,D008065,10051661,3268,Lipoid proteinosis,All ages,Autosomal recessive
493,Familial keratoacanthoma,Disease,Disorder,2C31.1,0018851,L85.8,,C5848325,C536150,,,Familial keratoacanthoma,All ages,Autosomal dominant
462,NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris,Disease,Disorder,,,Q80.0,,,,,,,,
497188,Diffuse intrinsic pontine glioma,Disease,Disorder,,0006033,C72.8,,C2986658,D000080443,,13075,Diffuse intrinsic pontine glioma,All ages,
498,Keratosis pilaris atrophicans,Clinical group,Group of disorders,ED56,0018855,,,,,10083835,,,,
496916,Rare genetic hyperkinetic movement disorder,Category,Group of disorders,,,,,C5681226,,,,,,
496924,Non-inflammatory vasculopathy,Category,Group of disorders,,,,,C5681227,,,,,,
454,Acquired ichthyosis,Disease,Disorder,ED50.0,0018683,L85.0,,C0263386,C538175,10021199,,Acquired ichthyosis,Adult,Not applicable
490,Omphalomesenteric cyst,Morphological anomaly,Disorder,LB03.Y,0018847,Q43.0,,C0266180,,,4081,,,
498467,Non-syndromic postaxial polydactyly,Category,Group of disorders,,,,,C5681228,,,,,,
498464,Non-syndromic preaxial polydactyly,Category,Group of disorders,,,,,C5681229,,,,,,
238,OBSOLETE: Digestive duplication,Morphological anomaly,Disorder,,,,,,,,,,,
498461,Non-syndromic terminal transverse limb defect,Category,Group of disorders,,,,,C5925039,,,,,,
617,Congenital primary megaureter,Morphological anomaly,Disorder,LB31.1,0018960,Q62.2,,C4273898,,,,Congenital primary megaureter,"Adolescent, Adult, Childhood, Infancy, Neonatal",Unknown
488,Urachal cyst,Morphological anomaly,Disorder,LB03.0,0018844,Q64.4,,C0041915,D014496,10065375,5425,Urachal cyst,"Infancy, Neonatal",Not applicable
498457,Non-syndromic longitudinal limb defect,Category,Group of disorders,,,,,C5925040,,,,,,
105,Atresia of urethra,Morphological anomaly,Disorder,LB31.2,0015195,Q64.3,,C0345345,,10064895,,Atresia of urethra,"Antenatal, Neonatal",Not applicable
498454,Dysostosis with brachydactyly with extraskeletal manifestations,Category,Group of disorders,,,,,C5681833,,,,,,
237,Duplication of urethra,Morphological anomaly,Disorder,LB31.5,0016529,Q64.7,,C0266348,,,1975,Duplication of urethra,"Infancy, Neonatal",
498451,Dysostosis with brachydactyly without extraskeletal manifestations,Category,Group of disorders,,,,,C5681233,,,,,,
498448,Overgrowth or tall stature syndrome with skeletal involvement,Category,Group of disorders,,,,,C5681234,,,,,,
734,Alpha delta granule deficiency,Disease,Disorder,3B62.4,0008495,D69.1,185050,C5680090,,,5034,Alpha delta granule deficiency,,"Autosomal dominant, Autosomal recessive"
721,Gray platelet syndrome,Disease,Disorder,3B62.00,0007686,D69.1,187900,C0272302,D055652,,2562,Gray platelet syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
498445,Genetic inflammatory or rheumatoid-like osteoarthropathy,Category,Group of disorders,,,,,C5681235,,,,,,
722,Hypoplasminogenemia,Disease,Disorder,DA0D.3,0009009,L90.5,217090,C1968804,,,4380,Hypoplasminogenemia,All ages,Autosomal recessive
749,Congenital prekallikrein deficiency,Disease,Disorder,3B15,0012901,D68.8,612423,C0272339,C562725,,4477,Congenital prekallikrein deficiency,"Infancy, Neonatal",Autosomal recessive
853,Fetal and neonatal alloimmune thrombocytopenia,Disease,Disorder,3B64.00,0019415,P61.0,,C3854603,,,2295,Fetal and neonatal alloimmune thrombocytopenia,"Antenatal, Neonatal",Not applicable
483,Congenital high-molecular-weight kininogen deficiency,Disease,Disorder,3B15,0009234,D68.8,228960,C0272340,,,2684,Congenital high-molecular-weight kininogen deficiency,,Autosomal recessive
498359,Aquagenic palmoplantar keratoderma,Disease,Disorder,EK5Y,0044663,L85.1,,C4087301,,,12991,Aquagenic palmoplantar keratoderma,"Adolescent, Adult, Childhood, Infancy",
852,X-linked thrombocytopenia with normal platelets,Etiological subtype,Subtype of disorder,3B62.0Y,0010743,D69.4,313900,C5548213,,,5176,X-linked thrombocytopenia with normal platelets,,X-linked recessive
498350,Syndromic biliary atresia,Clinical group,Group of disorders,,,,,C5681237,,,,,,
465,Congenital plasminogen activator inhibitor type 1 deficiency,Disease,Disorder,3B50.1,0013227,D68.8,613329,C4273899,,,4381,Congenital plasminogen activator inhibitor type 1 deficiency,"Adolescent, Adult, Childhood, Elderly",Autosomal recessive
498345,Biliary atresia and associated disorders,Category,Group of disorders,,,,,C5681238,,,,,,
310,Reflex epilepsy,Clinical group,Group of disorders,8A61.40,0017768,,,C0270857,D020195,,,Reflex epilepsy,Childhood,
498251,Menstrual cycle-dependent periodic fever,Disease,Disorder,GA20.Y,0044660,N94.8,614674,C3553418,,,,Menstrual cycle-dependent periodic fever,"Adolescent, Adult",
1332,Medullary thyroid carcinoma,Disease,Disorder,2D10.4,0015277,C73,,C0238462,C536914,10027101,7004,Medullary thyroid carcinoma,Adult,Not applicable
877,Neuroendocrine neoplasm,Category,Group of disorders,,0019496,,,C0206754,D018358,10052399,9316,Neuroendocrine neoplasm,Adult,Unknown
73,Gorham-Stout disease,Malformation syndrome,Disorder,FB86.2,0007414,M89.5,123880,C0029438,,10071283,6542,Gorham-Stout disease,All ages,Not applicable
498228,Phyllodes tumor of the prostate,Disease,Disorder,,0021102,C61,,C1335409,,,9404,Phyllodes tumor of the prostate,"Adult, Elderly",
728,Relapsing polychondritis,Disease,Disorder,FB82.3,0019125,M94.1,,C0032453,D011081,10038304,7417,Relapsing polychondritis,All ages,Unknown
467,Non-acquired combined pituitary hormone deficiency,Category,Group of disorders,,0018762,,,C5680091,,,2252,Non-acquired combined pituitary hormone deficiency,All ages,
463,NON RARE IN EUROPE: Adrenal incidentaloma,Disease,Disorder,,,,,,,,,,,
872,OBSOLETE: Disorder in the hormonal synthesis with or without goiter,Category,Group of disorders,,,,,,,,,,,
142,Anaplastic thyroid carcinoma,Disease,Disorder,2D10.3,0006468,C73,,C0238461,D065646,10002240,664,Anaplastic thyroid carcinoma,"Adult, Elderly",Not applicable
143,Parathyroid carcinoma,Disease,Disorder,2D12.Y,0012004,C75.0,608266,C0687150,D010282,,7329,Parathyroid carcinoma,Adult,Not applicable
759,NON RARE IN EUROPE: Central precocious puberty,Disease,Disorder,5A60.3,,,,,,,,,,
786,Generalized glucocorticoid resistance syndrome,Disease,Disorder,5A71.00,,E25.8,615962,C5231034,,,2499,Generalized glucocorticoid resistance syndrome,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
1676,Idiopathic pulmonary artery dilatation,Disease,Disorder,LA8B.1,0015664,I28.8,,C1384816,,,6757,,,
1666,Dextrocardia,Morphological anomaly,Disorder,LA80.1,0015661,Q24.0,,C0011813,D003914,10012592,1827,Dextrocardia,"Infancy, Neonatal",
1461,Criss-cross heart,Morphological anomaly,Disorder,LA81,0015449,Q24.8,,C0010334,D003420,,,Criss-cross heart,"Infancy, Neonatal",Unknown
1205,Mitral atresia,Morphological anomaly,Disorder,LA89.2,0015249,Q23.2,,C0344760,,10066800,3685,,,
3192,Supravalvular pulmonary stenosis,Clinical subtype,Subtype of disorder,LA8A.00,0017870,Q25.6,,C3280212,,,4594,,,
875,Primary pediatric heart tumor,Disease,Disorder,2F01,0019494,D15.1,,C4274356,,,,Primary pediatric heart tumor,Childhood,Not applicable
499085,Chronic relapsing inflammatory optic neuritis,Clinical subtype,Subtype of disorder,,0044687,H46,,C5567234,,,,,,
334,Hereditary atrial fibrillation,Disease,Disorder,BC65.Y,0018054,I48.9,617280,C3468561,,10088317,9740,Hereditary atrial fibrillation,"Adult, Elderly",Autosomal dominant
615,Familial atrial myxoma,Disease,Disorder,2F01,0009719,D15.1,255960,C1850635,C538262,,139,Familial atrial myxoma,"Adolescent, Adult",Autosomal dominant
498700,OBSOLETE: Limbic encephalitis with neurexin-3 antibodies,Disease,Disorder,,,,,,,,,,,
874,Primary adult heart tumor,Disease,Disorder,2F01,0019493,D15.1,,C4275152,,,,Primary adult heart tumor,Adult,Not applicable
499009,Congenital syphilis,Disease,Disorder,1A60,0005714,A50.1,,C0039131,D013590,10010641,,Congenital syphilis,"Antenatal, Neonatal",Not applicable
499004,OBSOLETE: Tuberculous meningitis,Disease,Disorder,,,,,,,,,,,
1330,Partial atrioventricular septal defect,Morphological anomaly,Disorder,LA87.40,0015275,Q21.2,,C0344735,C536112,,4229,Partial atrioventricular septal defect,All ages,Not applicable
2452,OBSOLETE: Vascular malposition,Category,Group of disorders,,,,,,,,,,,
499047,Autoimmune/inflammatory optic neuropathy,Clinical group,Group of disorders,,0044685,,,C5681239,,,,,,
1677,Familial idiopathic dilatation of the right atrium,Morphological anomaly,Disorder,LA8F,0015666,Q20.8,,C4274283,,,,Familial idiopathic dilatation of the right atrium,All ages,Unknown
498497,Short rib-polydactyly syndrome type 5,Malformation syndrome,Disorder,,0013569,Q77.2,614091,C5681240,,,,Short rib-polydactyly syndrome type 5,Antenatal,Autosomal recessive
720,Pili bifurcati,Disease,Disorder,ED73.Y,0019120,L67.8,,C5574653,,,,Pili bifurcati,Childhood,
671,Primary cutis verticis gyrata,Clinical group,Group of disorders,EE7Y,0019033,,,C0263417,,10080996,1643,Primary cutis verticis gyrata,All ages,
864,Trichofolliculoma,Disease,Disorder,,0019445,D23.4,,C0334262,C536553,10044611,5263,Trichofolliculoma,Adult,Not applicable
498602,Sugarman brachydactyly,Morphological anomaly,Disorder,,0010087,Q71.8,272150,C5399870,,,5058,Sugarman brachydactyly,"Infancy, Neonatal",
719,OBSOLETE: Pili canulati,Disease,Disorder,,,,,,,,,,,
247,Inherited arrhythmogenic cardiomyopathy,Clinical group,Group of disorders,BC43.6,0016587,,,C0349788,D019571,10058093,,Inherited arrhythmogenic cardiomyopathy,"Adolescent, Adult","Autosomal dominant, Autosomal recessive"
498693,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,Disease,Disorder,,0044682,Q74.3,,C5680092,,,,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,Neonatal,Autosomal recessive
498470,Non-syndromic complex polydactyly,Category,Group of disorders,,,,,C5681241,,,,,,
444,Marie Unna hereditary hypotrichosis,Disease,Disorder,EC21.2,0018631,Q84.0,612841,C2931059,C535912,,3390,Marie Unna hereditary hypotrichosis,"Infancy, Neonatal",Autosomal dominant
2221,Acquired hypertrichosis lanuginosa,Disease,Disorder,EL10,0016380,L68.1,,C0343072,,,2864,Acquired hypertrichosis lanuginosa,Adult,Not applicable
498474,Hyaline fibromatosis syndrome,Disease,Disorder,EE6Y,0009229,Q82.8,,C5574677,,,,Hyaline fibromatosis syndrome,"Childhood, Infancy, Neonatal",
492,Proliferating trichilemmal cyst,Disease,Disorder,,0018850,L72.1,,C2959585,,,4509,Proliferating trichilemmal cyst,Adult,
498477,Ectrodactyly with and without other manifestations,Category,Group of disorders,,,,,C5681242,,,,,,
498481,LRP5-related primary osteoporosis,Malformation syndrome,Disorder,LD24.KY,0044675,M85.8,,C5567241,,,,LRP5-related primary osteoporosis,"Adolescent, Childhood",Autosomal dominant
499,Kerion celsi,Disease,Disorder,1F28.4,0010146,B35.0,,C0276742,,,3109,Kerion celsi,All ages,Not applicable
498485,Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,Malformation syndrome,Disorder,LD2C,0012131,Q87.3,608811,C1837316,C537355,,10066,Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,"Antenatal, Neonatal",
573,Monilethrix,Disease,Disorder,EC21.0,0008009,Q84.1,621169,C0546966,D056734,,93,Monilethrix,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
498488,Overgrowth syndrome with 2q37 translocation,Malformation syndrome,Disorder,LD2C,0034676,Q87.3,,C5567236,,,,Overgrowth syndrome with 2q37 translocation,"Infancy, Neonatal",
525,Lichen planopilaris,Disease,Disorder,EA91.2,0018879,L66.1,,C0023645,C535892,10081142,3247,Lichen planopilaris,Adult,Not applicable
498491,Non-syndromic complete hemimelia,Category,Group of disorders,,0850030,,,C5925041,,,,,,
700,Alopecia totalis,Disease,Disorder,ED70.21,0019080,L63.0,610753,C0263504,,10001766,1470,Alopecia totalis,All ages,Multigenic/multifactorial
840,Syringocystadenoma papilliferum,Disease,Disorder,LC0Y,0019392,D23.9,,C0406803,,10042926,5100,Syringocystadenoma papilliferum,"Adolescent, Childhood, Infancy, Neonatal",Unknown
498494,Mirror-image polydactyly,Morphological anomaly,Disorder,,0034678,Q74.8,,C5700308,,,,,,
384,Huriez syndrome,Disease,Disorder,EC20.30,0008416,Q82.8,181600,C0406767,C537526,10070504,8517,Huriez syndrome,"Infancy, Neonatal",Autosomal dominant
315,Erythrokeratoderma ''en cocardes'',Disease,Disorder,,0017836,Q82.8,,C5848050,,,1722,Erythrokeratoderma ''en cocardes'',Childhood,Autosomal dominant
338,Familial multiple fibrofolliculoma,Disease,Disorder,,,,,,,,,,,
409,Hyperkeratosis lenticularis perstans,Disease,Disorder,ED5Y,0007756,L98.8,144150,C0263420,C538377,10071311,2824,Hyperkeratosis lenticularis perstans,Adult,"Autosomal dominant, Not applicable"
496,Thost-Unna palmoplantar keratoderma,Disease,Disorder,,,,,,,,,,,
41,Dyschromatosis symmetrica hereditaria,Disease,Disorder,EC23.Y,0007483,L81.8,127400,C0406775,C535729,,334,Dyschromatosis symmetrica hereditaria,Childhood,Autosomal dominant
122,Birt-Hogg-Dubé syndrome,Malformation syndrome,Disorder,LD27.5,0800445,C64,135150,C0346010,D058249,10067736,2322,Birt-Hogg-Dubé syndrome,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
38,Acrokeratoelastoidosis of Costa,Disease,Disorder,EC20.32,0007047,Q82.8,101850,C0545044,C535653,,125,Acrokeratoelastoidosis of Costa,"Adolescent, Adult","Autosomal dominant, Not applicable"
39,Acromelanosis,Disease,Disorder,,0018311,L81.4,,C0406779,,,4500,Acromelanosis,"Infancy, Neonatal",Unknown
241,Dyschromatosis universalis hereditaria,Disease,Disorder,EC23.Y,0000736,L81.8,615402,C2930995,C535730,,1996,Dyschromatosis universalis hereditaria,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
316,Progressive symmetric erythrokeratodermia,Disease,Disorder,EC20.0Y,,Q82.8,617756,,,,,Progressive symmetric erythrokeratodermia,"Infancy, Neonatal",Autosomal dominant
211,Familial cylindromatosis,Clinical subtype,Subtype of disorder,2F22,0007565,D23.5,132700,C1851526,C536611,,,Familial cylindromatosis,"Adolescent, Adult",Autosomal dominant
435,OBSOLETE: Ito hypomelanosis,Disease,Disorder,,,,,,,,,,,
658,Non-histaminic angioedema,Clinical group,Group of disorders,,0019013,,,C0002994,,,,Non-histaminic angioedema,All ages,"Autosomal dominant, Not applicable"
3282,Multifocal atrial tachycardia,Disease,Disorder,BC81.Y,0017988,I47.1,,C0221158,,,1235,Multifocal atrial tachycardia,"Infancy, Neonatal",Not applicable
188,Systemic capillary leak syndrome,Disease,Disorder,BD5Y,,I78.8,,C0343084,D019559,10007196,1084,Systemic capillary leak syndrome,Adult,Not applicable
303,Dystrophic epidermolysis bullosa,Clinical group,Group of disorders,EC32,0006543,Q81.2,,C0079294,D016108,,2150,Dystrophic epidermolysis bullosa,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
305,Junctional epidermolysis bullosa,Clinical group,Group of disorders,EC31,0017612,,,C0079301,D016109,,2152,Junctional epidermolysis bullosa,"Adolescent, Antenatal, Infancy, Neonatal",Autosomal recessive
3406,Ulerythema ophryogenesis,Disease,Disorder,ED56,0018086,L66.4,604093,C5700076,C537412,,5395,Ulerythema ophryogenesis,Childhood,"Autosomal dominant, Not applicable"
499182,Pilomatrix carcinoma,Disease,Disorder,,0003414,C44.4,,C0585475,,10075614,,Pilomatrix carcinoma,"Adolescent, Adult, Elderly",
2908,Kindler epidermolysis bullosa,Disease,Disorder,LD2B,0008260,Q81.8,173650,C0406557,C536321,,4391,Kindler epidermolysis bullosa,"Infancy, Neonatal",Autosomal recessive
81,Antisynthetase syndrome,Disease,Disorder,4A43.Y,0019344,M35.8,,C2609059,C537778,10068801,735,Antisynthetase syndrome,"Adult, Elderly",Not applicable
499107,Idiopathic optic perineuritis,Disease,Disorder,9C40.3,0044690,H05.0,,C5680093,,,,,,
563,Peripartum cardiomyopathy,Disease,Disorder,JB44.3,0018920,O90.3,,C0877208,,10049430,220,Peripartum cardiomyopathy,Adult,Unknown
764,Pyomyositis,Disease,Disorder,FB30,0019168,M60.0,,C0041188,D052880,10037652,4614,Pyomyositis,All ages,Not applicable
499096,Isolated optic neuritis,Disease,Disorder,9C40.1,0044688,H46,,C5848152,,10030942,,,,
779,Reynolds syndrome,Disease,Disorder,4A43.Y,0013276,M34.8,613471,C0748397,,10070953,4697,Reynolds syndrome,Adult,Not applicable
499103,Recurrent idiopathic neuroretinitis,Disease,Disorder,9C40.2,0044689,H46,,C5680094,,,,,,
838,Susac syndrome,Disease,Disorder,8A45.2Y,0019390,I67.7,,C2717757,D055955,10071573,7713,Susac syndrome,All ages,Unknown
889,Cutaneous small vessel vasculitis,Disease,Disorder,EF40.1,0019509,M31.0,,C0151436,,,7851,Cutaneous small vessel vasculitis,All ages,Not applicable
482,Kimura disease,Disease,Disorder,4B2Y,0018830,D21.9,,C0033838,D000082242,10048640,6835,Kimura disease,Adult,Unknown
485631,Congenital bile acid synthesis defect,Clinical group,Group of disorders,,0018841,,,C5680095,,,,,,
485426,Isolated congenital hepatic fibrosis,Disease,Disorder,LB20.00,0018840,Q44.6,,C0009714,C562378,10056533,,Isolated congenital hepatic fibrosis,Neonatal,
486811,Prenatal-onset spinal muscular atrophy with congenital bone fractures,Disease,Disorder,,0000209,G12.8,616867,C5567518,,,,Prenatal-onset spinal muscular atrophy with congenital bone fractures,Antenatal,Autosomal recessive
486815,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,Disease,Disorder,,0014896,G71.0,617066,C4310736,,,,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,Neonatal,Autosomal recessive
485418,EMILIN-1-related connective tissue disease,Disease,Disorder,,0044622,G60.8,620080,C5681244,,,,EMILIN-1-related connective tissue disease,Adult,Autosomal dominant
485421,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,Etiological subtype,Subtype of disorder,5C5Y,0014905,E88.8,617086,C4310726,,,,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,Infancy,Autosomal recessive
485382,Rare genetic premature ovarian failure,Category,Group of disorders,,,,,C5925042,,,,,,
485405,16p12.1p12.3 triplication syndrome,Malformation syndrome,Disorder,,0044621,Q93.7,,C5680097,,,,16p12.1p12.3 triplication syndrome,"Antenatal, Neonatal",
485350,CLCN4-related X-linked intellectual disability syndrome,Disease,Disorder,LD90,0010250,F78.1,300114,C0796221,,,,CLCN4-related X-linked intellectual disability syndrome,"Childhood, Infancy",X-linked dominant
485358,Propylthiouracil embryofetopathy,Malformation syndrome,Disorder,LD2F.0Y,0044619,Q06.8,,C5567519,,,,Propylthiouracil embryofetopathy,"Antenatal, Infancy, Neonatal",
485275,Acquired schizencephaly,Etiological subtype,Subtype of disorder,LA05.61,0018839,Q04.6,269160,C5681246,,,,,,
482606,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,Malformation syndrome,Disorder,,0044617,Q87.5,,C5567520,,,,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,"Adolescent, Childhood, Infancy, Neonatal",X-linked recessive
482092,Rare idiopathic macular telangiectasia,Category,Group of disorders,,,,,C5681247,,,,,,
482601,Adenylosuccinate synthetase-like 1-related distal myopathy,Disease,Disorder,,0014877,G71.0,617030,C5567521,,,,Adenylosuccinate synthetase-like 1-related distal myopathy,"Adolescent, Childhood",Autosomal recessive
31828,Digitalis poisoning,Particular clinical situation in a disease or syndrome,Disorder,NE60,0017863,T46.0,,C0274726,,,,Digitalis poisoning,All ages,Not applicable
480864,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,Disease,Disorder,8E4Y,0018820,G31.8,616878,C5567524,,,13423,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,Infancy,Autosomal recessive
31837,Pulmonary venoocclusive disease,Disease,Disorder,BB01.0,0009937,J98.4,265450,C0034091,D011668,10037458,10153,Pulmonary venoocclusive disease,All ages,"Autosomal recessive, Not applicable"
480907,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,Malformation syndrome,Disorder,LD90,0018823,Q87.0,300966,C4225418,,,,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,"Antenatal, Neonatal",X-linked recessive
480898,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,Disease,Disorder,,0018822,Q87.8,616875,C5567522,,,,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
480880,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,Malformation syndrome,Disorder,,0018821,Q87.8,300968,C5567523,,,13638,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,"Antenatal, Infancy, Neonatal",X-linked dominant
31740,Hypersensitivity pneumonitis,Disease,Disorder,CA70,0017853,J67.8,145300,C0002390,D000542,10081988,12,Hypersensitivity pneumonitis,All ages,Not applicable
480556,Isolated neonatal sclerosing cholangitis,Disease,Disorder,DB96.2Y,0018816,K83.0,617394,C5681248,,,,Isolated neonatal sclerosing cholangitis,Neonatal,Autosomal recessive
480553,Aneurysmal bone cyst,Disease,Disorder,XH23E0,0018815,M85.5,,C0152244,D017824,10002362,,,,
480549,Non-severe combined immunodeficiency,Clinical group,Group of disorders,,,,,C5680098,,,,,,
480541,High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,Disease,Disorder,,0018813,C85.7,,C4524190,,,,,,
31709,Infantile convulsions and choreoathetosis,Disease,Disorder,,0011178,,,C1865926,C535522,,8553,,,
31826,Ethylene glycol poisoning,Disease,Disorder,NE61,0017861,T52.8,,C0413194,,,,Ethylene glycol poisoning,All ages,Not applicable
480851,Hereditary thrombocytopenia with early-onset myelofibrosis,Disease,Disorder,3B64.01,0014837,D69.4,616937,C4310789,,,,Hereditary thrombocytopenia with early-onset myelofibrosis,Neonatal,Autosomal dominant
31827,Paraquat poisoning,Disease,Disorder,NE61,0017862,T60.3,,C0413070,,,,Paraquat poisoning,All ages,Not applicable
480773,OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
31824,Colchicine poisoning,Particular clinical situation in a disease or syndrome,Disorder,NE60,0017859,T50.4,,C0274779,,,,Colchicine poisoning,All ages,Not applicable
480701,Facial diplegia with paresthesias,Disease,Disorder,,0018818,G61.0,,C5567526,,,,,,
480682,POGLUT1-related limb-girdle muscular dystrophy R21,Disease,Disorder,,14977,G71.0,617232,C4310660,,,,POGLUT1-related limb-girdle muscular dystrophy R21,Adult,Autosomal recessive
31825,Methanol poisoning,Disease,Disorder,NE61,0017860,T51.1,,C0392621,,,,Methanol poisoning,All ages,Not applicable
481665,Pseudo-TORCH syndrome type 2,Disease,Disorder,,0018828,Q04.8,617397,C4479376,,,,Pseudo-TORCH syndrome type 2,"Antenatal, Neonatal",Autosomal recessive
481671,Type 1 interferonopathy of childhood,Category,Group of disorders,,0957408,,,C5681250,,,,,,
482072,HTRA1-related cerebral small vessel disease,Clinical group,Group of disorders,,,,,C5680099,,,,,,
482077,HTRA1-related autosomal dominant cerebral small vessel disease,Disease,Disorder,,0018832,I67.8,616779,C5568568,,,,HTRA1-related autosomal dominant cerebral small vessel disease,"Adult, Elderly",Autosomal dominant
481771,Genetic alopecia,Category,Group of disorders,,,,,C5681251,,,,,,
481986,Familial schizencephaly,Etiological subtype,Subtype of disorder,LA05.61,0018829,Q04.6,269160,C2931870,C538514,,,Familial schizencephaly,"Antenatal, Neonatal",Autosomal recessive
481475,OBSOLETE: Gastric neuroendocrine tumor type 2,Clinical subtype,Subtype of disorder,,,,,,,,,,,
481478,OBSOLETE: Gastric neuroendocrine tumor type 3,Clinical subtype,Subtype of disorder,,,,,,,,,,,
481152,PYCR2-related microcephaly-progressive leukoencephalopathy,Malformation syndrome,Disorder,,0018825,Q87.8,616420,C4225332,,,,PYCR2-related microcephaly-progressive leukoencephalopathy,Infancy,Autosomal recessive
481469,OBSOLETE: Gastric neuroendocrine tumor type 1,Clinical subtype,Subtype of disorder,,,,,,,,,,,
481662,Familial Chilblain lupus,Disease,Disorder,,0018827,L93.2,614415,C5688224,,10090201,,Familial Chilblain lupus,"Childhood, Infancy",Autosomal dominant
481481,OBSOLETE: Gastric neuroendocrine tumor type 4,Clinical subtype,Subtype of disorder,,,,,,,,,,,
481508,Gastroenteric neuroendocrine neoplasm,Category,Group of disorders,,,,,C5681253,,,,,,
480476,Progressive familial intrahepatic cholestasis type 5,Clinical subtype,Subtype of disorder,5C58.03,0014884,K76.8,617049,C4310747,,,,Progressive familial intrahepatic cholestasis type 5,Neonatal,Autosomal recessive
480491,MYO5B-related progressive familial intrahepatic cholestasis,Clinical subtype,Subtype of disorder,5C58.03,0018804,K76.8,619868,C5680100,,,,MYO5B-related progressive familial intrahepatic cholestasis,Neonatal,Autosomal recessive
480483,Progressive familial intrahepatic cholestasis type 4,Clinical subtype,Subtype of disorder,,0014381,K76.8,615878,C2931067,,,9803,Progressive familial intrahepatic cholestasis type 4,"Childhood, Infancy",Autosomal recessive
480528,Lethal hydranencephaly-diaphragmatic hernia syndrome,Malformation syndrome,Disorder,,0018810,Q87.8,,C5567527,,,,Lethal hydranencephaly-diaphragmatic hernia syndrome,Neonatal,Autosomal recessive
480524,Idiopathic peliosis hepatis,Disease,Disorder,DB98.1,0018809,K76.4,,C5680101,,,,Idiopathic peliosis hepatis,"Adult, Childhood",
480536,MSH3-related polyposis,Disease,Disorder,2B90.Y,0018812,D12.6,617100,C4310719,,,,MSH3-related polyposis,Neonatal,Autosomal recessive
480531,Congenital portosystemic shunt,Morphological anomaly,Disorder,DB98.Y,0018811,Q26.5,,C1290495,,,,Congenital portosystemic shunt,All ages,
480506,Primary intrahepatic lithiasis,Disease,Disorder,DC11.7,0018806,K80.3,,C5576557,,,,,,
480501,Choledochal cyst,Morphological anomaly,Disorder,LB20.20,18805,Q44.4,,C0008340,D015529,,,Choledochal cyst,All ages,
480520,Caroli syndrome,Malformation syndrome,Disorder,LB20.00,0018808,Q44.6,,C5848202,,,,Caroli syndrome,All ages,Autosomal recessive
480512,Idiopathic ductopenia,Disease,Disorder,DC1Y,0018807,K83.8,,C0022230,,,,,,
477811,Rare hypercholesterolemia,Category,Group of disorders,,,,,C5681254,,,,,,
477814,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,Malformation syndrome,Disorder,,0014714,Q02,616632,C5567650,,,,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,Infancy,Autosomal recessive
477805,Genetic cardiac malformation,Category,Group of disorders,,,,,C5681255,,,,,,
477808,Other genetic dermis disorder,Category,Group of disorders,,,,,C5681256,,,,,,
477794,Syndromic constitutional thrombocytopenia,Category,Group of disorders,,0018795,,,C5681257,,,,,,
477797,Isolated constitutional thrombocytopenia,Category,Group of disorders,,,,,C5680102,,,,,,
477781,Primary condylar hyperplasia,Disease,Disorder,,0018793,K07.6,,C5568570,,,,Primary condylar hyperplasia,All ages,
477787,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,Disease,Disorder,3B62.00,0018794,D69.1,618372,C5567651,,,,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,Childhood,Autosomal recessive
478029,Combined oxidative phosphorylation defect type 29,Disease,Disorder,,0014781,E88.8,616811,C5567607,,,,Combined oxidative phosphorylation defect type 29,Infancy,Autosomal recessive
478042,Combined oxidative phosphorylation defect type 30,Disease,Disorder,,0014856,E88.8,616974,C5567605,,,,Combined oxidative phosphorylation defect type 30,Neonatal,Autosomal recessive
477993,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,Malformation syndrome,Disorder,,0014751,Q87.8,616728,C5567644,,,,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
477857,Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,Disease,Disorder,,0014710,D84.8,616622,C5567647,,,,Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,Infancy,Autosomal recessive
477817,PMP22-RAI1 contiguous gene duplication syndrome,Malformation syndrome,Disorder,,0014723,Q92.3,616652,C4225255,,,,PMP22-RAI1 contiguous gene duplication syndrome,"Childhood, Infancy",Unknown
477831,Kosaki overgrowth syndrome,Malformation syndrome,Disorder,LD2C,0014704,Q87.3,616592,C4225270,,10081313,,Kosaki overgrowth syndrome,Infancy,No data available
478049,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,Disease,Disorder,5D0Y,0014976,E88.8,617228,C5567603,,,,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,Infancy,Autosomal recessive
478664,Hereditary sensory and autonomic neuropathy type 8,Disease,Disorder,,14662,G60.8,616488,C4225308,,,,Hereditary sensory and autonomic neuropathy type 8,Neonatal,Autosomal recessive
477647,Type 1 interferonopathy,Category,Group of disorders,,,,,C5394397,,,,,,
477650,Fibroblastic rheumatism,Disease,Disorder,FB51.3,0018783,M06.4,,C1302753,,,,Fibroblastic rheumatism,"Adolescent, Adult, Childhood",
477668,OBSOLETE: AymÚ-Gripp syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
477661,IL21-related infantile inflammatory bowel disease,Disease,Disorder,DD7Y,0014338,D84.8,615767,C5567788,,,,IL21-related infantile inflammatory bowel disease,Infancy,Autosomal recessive
477684,Combined oxidative phosphorylation defect type 26,Disease,Disorder,,0014684,E88.8,616539,C5567741,,,,Combined oxidative phosphorylation defect type 26,"Childhood, Infancy",Autosomal recessive
477673,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,Disease,Disorder,,0014567,G11.4,616281,C5567787,,,,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,Infancy,Autosomal recessive
477738,Pediatric multiple sclerosis,Disease,Disorder,,0018784,G35,,C5568571,,,10443,Pediatric multiple sclerosis,"Adolescent, Childhood",
477697,OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome,Disease,Disorder,,,,,,,,,,,
477749,Pontine autosomal dominant microangiopathy with leukoencephalopathy,Disease,Disorder,,0032814,I67.8,618564,C5231411,,,,Pontine autosomal dominant microangiopathy with leukoencephalopathy,Adult,Autosomal dominant
477742,Nodular fasciitis,Disease,Disorder,FB51.2,0004187,M79.8,,C0410005,,10065988,,Nodular fasciitis,All ages,Not applicable
477759,COL4A1 or COL4A2-related cerebral small vessel disease,Category,Group of disorders,,,,,C5680103,,,,,,
477754,Genetic cerebral small vessel disease,Category,Group of disorders,,,,,C5681259,,,,,,
477765,COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency,Clinical group,Group of disorders,,,,,C5925043,,,,,,
477762,COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency,Clinical group,Group of disorders,,,,,C5925044,,,,,,
477771,Rare disorder with a moyamoya angiopathy,Category,Group of disorders,,,,,C5681260,,,,,,
477768,Moyamoya angiopathy,Clinical group,Group of disorders,,,,,C5681261,,,,,,
477774,Combined oxidative phosphorylation defect type 27,Disease,Disorder,,0014728,E88.8,616672,C5567608,,,,Combined oxidative phosphorylation defect type 27,"Childhood, Infancy",Autosomal recessive
476116,Demyelinating hereditary motor and sensory neuropathy,Clinical group,Group of disorders,,0018776,,,C5680106,,,,,,
476119,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,Malformation syndrome,Disorder,,0018777,Q87.2,,C5568802,,,,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,Neonatal,Autosomal dominant
476109,Axonal hereditary motor and sensory neuropathy,Clinical group,Group of disorders,,,,,C5680107,,,,,,
476113,Combined immunodeficiency due to TFRC deficiency,Disease,Disorder,,0014760,D81.8,616740,C5568133,,,,Combined immunodeficiency due to TFRC deficiency,"Childhood, Infancy",Autosomal recessive
476123,Intermediate Charcot-Marie-Tooth disease,Clinical group,Group of disorders,8C20.2,0018778,,,C5680108,,,,,,
476126,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,Malformation syndrome,Disorder,,0014892,Q87.8,617061,C5568801,,,,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,Neonatal,Autosomal dominant
476406,Congenital generalized hypercontractile muscle stiffness syndrome,Disease,Disorder,,0018780,G71.2,,C5567789,,,,Congenital generalized hypercontractile muscle stiffness syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
476394,PMP2-related Charcot-Marie-Tooth disease type 1,Disease,Disorder,,0033135,G60.0,618279,C5567891,,,,PMP2-related Charcot-Marie-Tooth disease type 1,"Adolescent, Childhood",Autosomal dominant
476403,Hypercontractile muscle stiffness syndrome,Clinical group,Group of disorders,,,,,C5681263,,,,,,
493342,Vibratory urticaria,Disease,Disorder,EB01.Y,7447,L50.4,125630,C0157743,D000094482,10052571,9806,Vibratory urticaria,All ages,Autosomal dominant
493348,OBSOLETE: Vibratory angioedema,Disease,Disorder,,,,,,,,,,,
488642,TELO2-related intellectual disability-neurodevelopmental disorder,Malformation syndrome,Disorder,,0014848,Q87.8,616954,C4310778,,,,TELO2-related intellectual disability-neurodevelopmental disorder,Neonatal,Autosomal recessive
488647,DDX41-related hematologic malignancy predisposition syndrome,Disease,Disorder,,0014809,C96.7,616871,C5567478,,,,DDX41-related hematologic malignancy predisposition syndrome,"Adult, Elderly",Multigenic/multifactorial
488650,"Distal myopathy, Tateyama type",Disease,Disorder,,0013686,G71.0,614321,C3280443,,,,"Distal myopathy, Tateyama type",Adult,Autosomal dominant
488618,Transketolase deficiency,Malformation syndrome,Disorder,5C51.0,0014881,E88.8,617044,C1291328,,,,Transketolase deficiency,"Infancy, Neonatal",Autosomal recessive
488627,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,Malformation syndrome,Disorder,,0014886,Q87.8,617051,C5567481,,,,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,Infancy,Autosomal recessive
488632,TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome,Malformation syndrome,Disorder,LD90.Y,0014823,Q87.0,616900,C5567480,,,,TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
488635,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,Disease,Disorder,,0014832,E77.8,616917,C5567479,,,,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,Neonatal,Autosomal recessive
488265,Osteofibrous dysplasia,Disease,Disorder,,0011806,M85.0,607278,C1709353,C563276,,10887,Osteofibrous dysplasia,"Childhood, Infancy",Autosomal dominant
488239,Acute macular neuroretinopathy,Disease,Disorder,9B65.0,0044627,H35.3,,C5200735,,10086444,,Acute macular neuroretinopathy,"Adolescent, Adult",
488232,Split-foot malformation-mesoaxial polydactyly syndrome,Malformation syndrome,Disorder,,0014816,Q74.8,616890,C5567487,,,,Split-foot malformation-mesoaxial polydactyly syndrome,Neonatal,Autosomal recessive
488333,Autosomal dominant Charcot-Marie-Tooth disease type 2W,Disease,Disorder,,0014711,G60.0,616625,C5567486,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2W,"Adolescent, Adult, Childhood",Autosomal dominant
488280,14q32 duplication syndrome,Disease,Disorder,,0014707,Q92.3,616604,C4225449,,,,14q32 duplication syndrome,Adult,
488586,Congenital amyoplasia,Malformation syndrome,Disorder,LD26.41,0044629,Q68.8,,C0812412,,,,,,
488437,SIX2-related frontonasal dysplasia,Malformation syndrome,Disorder,,0044628,Q75.8,,C5567484,,,,SIX2-related frontonasal dysplasia,Neonatal,Autosomal dominant
488434,"Camptodactyly syndrome, Guadalajara type 3",Malformation syndrome,Disorder,,0012759,Q87.8,611929,C2677809,C567455,,10573,"Camptodactyly syndrome, Guadalajara type 3",Neonatal,
488613,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,Malformation syndrome,Disorder,,0024252,F84.8,616973,C5567482,,,,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,"Childhood, Infancy",Autosomal dominant
488594,Autosomal recessive spastic paraplegia type 76,Disease,Disorder,,0014827,G11.4,616907,C5567483,,,,Autosomal recessive spastic paraplegia type 76,Adult,Autosomal recessive
488197,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,Disease,Disorder,LA10.Y,0014747,Q13.8,616722,C5567488,,,,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,"Childhood, Infancy",Autosomal dominant
488201,NON RARE IN EUROPE: Non-small cell lung cancer,Disease,Disorder,,,,,,,,,,,
488168,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,Malformation syndrome,Disorder,,0014793,E88.8,616834,C5567510,,,,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,Infancy,Autosomal recessive
488191,Female infertility due to oocyte meiotic arrest,Disease,Disorder,GA31.0Y,0044626,N97.8,619009,C5567489,,,,Female infertility due to oocyte meiotic arrest,"Adolescent, Adult",Autosomal recessive
487796,Takenouchi-Kosaki syndrome,Malformation syndrome,Disorder,LD2F.1,0014757,Q87.8,616737,C4225222,,,,Takenouchi-Kosaki syndrome,Neonatal,Autosomal dominant
487814,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,Disease,Disorder,,0044625,G60.0,,C5567515,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,Childhood,Autosomal dominant
487809,Pediatric collagenous gastritis,Disease,Disorder,DA42.Y,0044624,K29.6,,C5680109,,,,Pediatric collagenous gastritis,"Adolescent, Childhood, Infancy",
487825,Pierpont syndrome,Malformation syndrome,Disorder,,0011213,Q87.8,602342,C1865644,C566559,,,Pierpont syndrome,"Infancy, Neonatal",Autosomal dominant
486955,Rare pediatric rheumatologic disease,Category,Group of disorders,,,,,C5681264,,,,,,
31205,Rat-bite fever,Disease,Disorder,1B90,0006941,A25.9,,C0034686,D011906,10037904,9557,Rat-bite fever,All ages,
31204,Nocardiosis,Disease,Disorder,1C1B.1,0017776,A43.9,,C0028242,D009617,10029444,7210,Nocardiosis,All ages,Not applicable
31154,Hypobetalipoproteinemia,Clinical group,Group of disorders,5C81.1,0017774,,,C0020597,D006995,,,,,
31202,Melioidosis,Disease,Disorder,1C42,0017775,A24.4,615557,C0025229,D008554,10069748,9546,Melioidosis,All ages,
31150,Tangier disease,Disease,Disorder,5C81.0,0008783,E78.6,205400,C0039292,D013631,10051875,7731,Tangier disease,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
31153,Hypoalphalipoproteinemia,Clinical group,Group of disorders,5C81.0,0017773,,,C0473527,D052456,10065156,,,,
31142,NON RARE IN EUROPE: Oral erosive lichen,Disease,Disorder,EA91.41,,,,,,,,,,
31043,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,Clinical subtype,Subtype of disorder,5C64.41,0009550,E83.4,248250,C4511528,,,2906,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,Childhood,Autosomal recessive
31112,Dermatofibrosarcoma protuberans,Disease,Disorder,2B53.Y,0011934,C49.9,607907,C0392784,C538219,10057070,9569,Dermatofibrosarcoma protuberans,All ages,Not applicable
30924,Primary hypomagnesemia with secondary hypocalcemia,Disease,Disorder,5C64.41,0011176,E83.4,602014,C1865974,C566593,,13072,Primary hypomagnesemia with secondary hypocalcemia,"Infancy, Neonatal",Autosomal recessive
30925,Hereditary arginine vasopressin deficiency,Clinical subtype,Subtype of disorder,5A61.5,0007450,E23.2,304900,C5680110,,,,Hereditary arginine vasopressin deficiency,Childhood,"Autosomal dominant, Autosomal recessive, X-linked dominant"
476084,BVES-related limb-girdle muscular dystrophy,Disease,Disorder,8C70.41,0014782,G71.0,616812,C5568138,,,,BVES-related limb-girdle muscular dystrophy,Adult,Autosomal recessive
476096,Erythrokeratodermia-cardiomyopathy syndrome,Disease,Disorder,BC43.0,0018774,I42.0,615821,C5568136,,,,Erythrokeratodermia-cardiomyopathy syndrome,Neonatal,Not applicable
476102,OBSOLETE: Hereditary pediatric Behçet-like disease,Disease,Disorder,,,,,,,,,,,
476093,HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,Disease,Disorder,,0018773,G60.8,621078,C5568137,,,,HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
471383,Genetic lethal multiple congenital anomalies/dysmorphic syndrome,Category,Group of disorders,,,,,C5681265,,,,,,
474347,Rare congenital anomaly of ventricular septum,Clinical group,Group of disorders,,,,,C5680111,,,,,,
71278,Congenital brain dysgenesis due to glutamine synthetase deficiency,Disease,Disorder,5C50.Y,0012393,E72.8,610015,C5680112,,,9848,Congenital brain dysgenesis due to glutamine synthetase deficiency,"Infancy, Neonatal",Autosomal recessive
71279,CANOMAD syndrome,Disease,Disorder,8C01.3,0019109,G61.8,,C2931684,C537980,10088816,9778,CANOMAD syndrome,"Adult, Elderly",
71281,Rare central nervous system and retinal vascular disease,Category,Group of disorders,,,,,C5681266,,,,,,
71270,OBSOLETE: Auriculoocular anomalies-cleft lip syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
71271,Split hand-split foot-deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0009080,Q87.2,220600,C1857344,C565647,,,Split hand-split foot-deafness syndrome,"Infancy, Neonatal",Autosomal recessive
71272,Sandifer syndrome,Disease,Disorder,8A02.2,0019104,G24.8,,C0338465,C537234,10066142,9684,Sandifer syndrome,"Adult, Childhood, Infancy",Not applicable
71273,Renal nutcracker syndrome,Disease,Disorder,LA90.Y,0019105,Q27.8,,C3178770,D059228,,11971,Renal nutcracker syndrome,Adult,Unknown
71274,Disseminated peritoneal leiomyomatosis,Disease,Disorder,,0006183,D20.1,,C0267785,,,12843,Disseminated peritoneal leiomyomatosis,Adult,Unknown
71275,Rh deficiency syndrome,Disease,Disorder,3A10.Y,0019107,D58.8,268150,C0272052,C562717,,12916,Rh deficiency syndrome,No data available,Autosomal recessive
71276,Silent sinus syndrome,Disease,Disorder,CA0B,0019108,J34.8,,C3698095,,10075540,,Silent sinus syndrome,Adult,Not applicable
71277,Classic glucose transporter type 1 deficiency syndrome,Disease,Disorder,5C61.5,0011724,E74.8,606777,C4551966,,,9265,Classic glucose transporter type 1 deficiency syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
71209,Rare soft tissue tumor,Category,Group of disorders,,,,,C5680113,,,,,,
71212,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,,E71.3,609975,C4303473,,,9870,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
71211,Neuromyelitis optica spectrum disorder,Disease,Disorder,8A43,0019100,G36.0,,C0027873,D009471,10077875,6267,Neuromyelitis optica spectrum disorder,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
71267,Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,Malformation syndrome,Disorder,LD2H.Y,0019102,Q87.8,,C4303592,,,,Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
71213,Retinal capillary malformation,Disease,Disorder,LD23,0019101,D18.0,,C0730304,,,,Retinal capillary malformation,All ages,Autosomal dominant
71269,OBSOLETE: Benign exophthalmos syndrome,Disease,Disorder,,,,,,,,,,,
71198,Rare pulmonary hypertension,Category,Group of disorders,,,,,C5681268,,,,,,
71203,Autoimmune thrombocytopenia,Clinical group,Group of disorders,,0019098,,,C0242584,,10050245,,,,
71202,Rare hemorrhagic disorder due to a constitutional platelet anomaly,Category,Group of disorders,,,,,C5680114,,,,,,
558411,Idiopathic gastroparesis,Disease,Disorder,DA41.00,0034150,K31.8,,C0267171,,,,Idiopathic gastroparesis,"Adolescent, Adult, Childhood, Elderly, Infancy",
70591,Chronic thromboembolic pulmonary hypertension,Disease,Disorder,BB01.3,0013024,I26.0,612862,C2363973,,10068739,13124,Chronic thromboembolic pulmonary hypertension,"Adolescent, Adult, Elderly",Not applicable
70592,Transient predisposition to invasive pyogenic bacterial infection,Disease,Disorder,4A00.2,0011888,D84.8,607676,C1843256,C564352,,10311,Transient predisposition to invasive pyogenic bacterial infection,Childhood,Autosomal recessive
70589,Bronchopulmonary dysplasia,Malformation syndrome,Disorder,KB29.0,0019091,P27.1,,C0006287,D001997,10006475,5962,Bronchopulmonary dysplasia,"Infancy, Neonatal",Not applicable
70590,Infantile apnea,Disease,Disorder,7A4Y,0019092,P28.4,,C0745261,,10077321,6779,Infantile apnea,"Infancy, Neonatal",
70595,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,Disease,Disorder,5C53.21,0011835,G71.3,607459,C1843851,C537583,,9998,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,Adult,Autosomal recessive
70596,Congenital Epstein-Barr virus infection,Disease,Disorder,KA62.1,0019094,P35.8,,C4274357,,,,Congenital Epstein-Barr virus infection,"Infancy, Neonatal",Not applicable
70593,Immunodeficiency due to selective anti-polysaccharide antibody deficiency,Disease,Disorder,4A01.02,0019093,D80.8,,C0398712,,,11903,Immunodeficiency due to selective anti-polysaccharide antibody deficiency,"Adolescent, Adult, Childhood",Multigenic/multifactorial
70594,Dopa-responsive dystonia due to sepiapterin reductase deficiency,Disease,Disorder,5C59.01,0012994,G24.1,612716,C0268468,C562657,,10365,Dopa-responsive dystonia due to sepiapterin reductase deficiency,"Infancy, Neonatal",Autosomal recessive
70578,Adult acute respiratory distress syndrome,Disease,Disorder,CB00,0100130,J80,,C5680115,,,,Adult acute respiratory distress syndrome,Adult,Not applicable
70573,Small cell lung cancer,Disease,Disorder,2C25.1,0008433,C34.9,182280,C0149925,,10041067,9344,Small cell lung cancer,Adult,Not applicable
70568,Post-transplant lymphoproliferative disease,Disease,Disorder,,0019088,D47.9,,C0432487,,10051358,9553,Post-transplant lymphoproliferative disease,All ages,Not applicable
70588,Meconium aspiration syndrome,Disease,Disorder,KB26.0,0006851,P24.0,,C0025048,D008471,10076496,10494,Meconium aspiration syndrome,"Infancy, Neonatal",Not applicable
70587,Infant acute respiratory distress syndrome,Disease,Disorder,KB23.0,0009971,P22.0,267450,C0035220,D012127,10028974,112,,,
70474,Leigh syndrome with cardiomyopathy,Disease,Disorder,,,,,C5680116,,,,,,
70472,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",Disease,Disorder,5C53.24,0009069,G31.8,619065,C1857355,C537004,,8370,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","Infancy, Neonatal",Autosomal recessive
70470,OBSOLETE: Hyperlipoproteinemia type 5,Disease,Disorder,,,,,,,,,,,
70567,Cholangiocarcinoma,Disease,Disorder,2C12.10,0019087,C24.0,615619,C0206698,D018281,10008593,9304,Cholangiocarcinoma,Adult,Not applicable
557866,Rare disorder with Hirschsprung disease as a major feature,Category,Group of disorders,,,,,C5681269,,,,,,
70482,Carcinoma of esophagus,Clinical group,Group of disorders,,0019086,,,C0152018,,10030155,6383,Carcinoma of esophagus,Adult,
70476,Vernal keratoconjunctivitis,Disease,Disorder,9A60.5,0019085,H16.2,,C0022577,,10081000,7854,Vernal keratoconjunctivitis,Childhood,Not applicable
70475,Radiation proctitis,Disease,Disorder,DB33.42,0019084,K62.7,,C0400827,,10037766,,Radiation proctitis,Adult,Not applicable
69744,Circumscribed palmoplantar hypokeratosis,Disease,Disorder,,0019076,L98.8,,C0406762,,,,Circumscribed palmoplantar hypokeratosis,Adult,Unknown
69745,Warty dyskeratoma,Disease,Disorder,2F21.Y,0019077,L85.8,,C0334063,,10068856,,Warty dyskeratoma,Adult,Unknown
69735,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,Disease,Disorder,,,Q82.0,607823,C4317151,,,2492,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
69736,Bilateral acute depigmentation of the iris,Disease,Disorder,9A90.1,0019074,Q13.8,,C4304058,,,,Bilateral acute depigmentation of the iris,Adult,Unknown
69737,Bosley-Salih-Alorainy syndrome,Malformation syndrome,Disorder,LD2H.Y,0019075,Q87.8,601536,C1832216,,,,Bosley-Salih-Alorainy syndrome,"Infancy, Neonatal",Autosomal recessive
69739,Athabaskan brainstem dysgenesis syndrome,Disease,Disorder,LD2H.Y,0011099,G96.8,601536,C1832215,C535397,,8333,Athabaskan brainstem dysgenesis syndrome,"Infancy, Neonatal",Autosomal recessive
69663,Low phospholipid-associated cholelithiasis,Disease,Disorder,DC11.Y,0010939,K80.8,600803,C2609268,,10068936,,Low phospholipid-associated cholelithiasis,Adult,"Autosomal dominant, Autosomal recessive"
69665,Intrahepatic cholestasis of pregnancy,Disease,Disorder,JA65.0,0100429,O26.6,614972,C0268318,C535932,,9804,Intrahepatic cholestasis of pregnancy,Adult,"Multigenic/multifactorial, Not applicable"
69723,Tyrosinemia type 3,Disease,Disorder,5C50.1Y,0010162,E70.2,276710,C0268623,,10069461,10332,Tyrosinemia type 3,"Infancy, Neonatal",Autosomal recessive
69127,NON RARE IN EUROPE: Immunoglobulin A deficiency,Disease,Disorder,,,D80.2,,,,,,,,
69126,PAPA syndrome,Disease,Disorder,4A60.Y,0011462,D89.8,604416,C1858361,C536253,10072222,9176,PAPA syndrome,Childhood,Autosomal dominant
69087,Naegeli-Franceschetti-Jadassohn syndrome,Disease,Disorder,LD27.0Y,0008059,Q82.4,161000,C0343111,C538331,,3912,Naegeli-Franceschetti-Jadassohn syndrome,"Infancy, Neonatal",Autosomal dominant
69125,Anonychia with flexural pigmentation,Malformation syndrome,Disorder,LD27.0Y,0007131,Q84.3,106750,C1862844,C566278,,,Anonychia with flexural pigmentation,"Infancy, Neonatal",Autosomal dominant
69088,Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,Disease,Disorder,LD27.0Y,0010295,Q78.2,300291,C4303737,,,,Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,"Infancy, Neonatal",X-linked recessive
69083,"Ectodermal dysplasia with natal teeth, Turnpenny type",Malformation syndrome,Disorder,LD27.0Y,0011041,Q82.4,601345,C1832444,C563347,,10526,"Ectodermal dysplasia with natal teeth, Turnpenny type","Childhood, Neonatal",Autosomal dominant
69082,Odonto-tricho-ungual-digito-palmar syndrome,Malformation syndrome,Disorder,LD27.0Y,0011171,Q82.4,601957,C1865998,C566598,,,Odonto-tricho-ungual-digito-palmar syndrome,"Infancy, Neonatal",Autosomal dominant
69085,Limb-mammary syndrome,Malformation syndrome,Disorder,LD27.0Y,0011334,Q82.4,603543,C1863753,C535903,,10051,Limb-mammary syndrome,"Antenatal, Neonatal",Autosomal dominant
69084,Pure hair and nail ectodermal dysplasia,Malformation syndrome,Disorder,LD27.0Y,0019071,Q82.8,614927,C4024880,C566592,,,Pure hair and nail ectodermal dysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
69077,Rhabdoid tumor,Disease,Disorder,,0002728,C49.9,613325,C0206743,D018335,10073334,7572,Rhabdoid tumor,"Antenatal, Childhood, Infancy, Neonatal",Not applicable
69076,Familial renal glucosuria,Disease,Disorder,5C61.5,0009297,E74.8,233100,C3245525,,10073689,7548,Familial renal glucosuria,All ages,"Autosomal dominant, Autosomal recessive"
69078,Liposarcoma,Disease,Disorder,2B59.2,0005060,C49.9,613488,C0023827,D008080,10024627,6913,Liposarcoma,All ages,Unknown
69061,Idiopathic steroid-sensitive nephrotic syndrome,Clinical syndrome,Disorder,GB41,0019067,N04.0,615861,C0403396,,,,Idiopathic steroid-sensitive nephrotic syndrome,All ages,Unknown
69063,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,Disease,Disorder,GB41,0019068,P96.0,,C4511239,,,,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,"Antenatal, Neonatal",Autosomal recessive
67048,3-methylglutaconic aciduria type 4,Disease,Disorder,5C50.E0,0009611,E71.1,250951,C1855126,C565393,,10342,3-methylglutaconic aciduria type 4,"Infancy, Neonatal",Autosomal recessive
69028,Dysostosis with brachydactyly,Category,Group of disorders,,,,,C5681270,,,,Dysostosis with brachydactyly,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
67046,3-methylglutaconic aciduria type 1,Disease,Disorder,5C50.E0,0009610,E71.1,250950,C0342727,C562801,,10321,3-methylglutaconic aciduria type 1,"Infancy, Neonatal",Autosomal recessive
67047,3-methylglutaconic aciduria type 3,Disease,Disorder,5C50.E0,0009787,E71.1,258501,C0574084,C535311,,5663,3-methylglutaconic aciduria type 3,Childhood,Autosomal recessive
67044,Thrombocytopenia with congenital dyserythropoietic anemia,Disease,Disorder,3A73,0019031,D69.4,300367,C4302508,,,,Thrombocytopenia with congenital dyserythropoietic anemia,"Infancy, Neonatal",X-linked recessive
67045,X-linked intellectual disability with isolated growth hormone deficiency,Clinical subtype,Subtype of disorder,LD90.Y,0019032,E23.0,300123,C1848068,C564712,,,X-linked intellectual disability with isolated growth hormone deficiency,"Infancy, Neonatal",X-linked recessive
67042,Late-onset retinal degeneration,Disease,Disorder,9B70,0011579,H35.5,605670,C1854065,C565309,,4357,Late-onset retinal degeneration,"Adult, Elderly",Autosomal dominant
67043,Amoebic keratitis,Disease,Disorder,1F50,0005629,H19.2*,,C0000880,D015823,10069408,9285,Amoebic keratitis,All ages,Not applicable
67039,Segmental odontomaxillary dysplasia,Disease,Disorder,DA07.3,0019029,K00.4,,C3698531,,,,Segmental odontomaxillary dysplasia,Childhood,Not applicable
67041,Hyaluronidase deficiency,Disease,Disorder,5C56.3Y,0011093,E76.2,601492,C1291490,C563209,,,Hyaluronidase deficiency,Childhood,Autosomal recessive
67037,Squamous cell carcinoma of head and neck,Category,Group of disorders,,,,,,,,,,,
67038,B-cell chronic lymphocytic leukemia,Disease,Disorder,2A82.0,0004948,C91.1,612559,C0023434,D015451,10008958,6104,B-cell chronic lymphocytic leukemia,Adult,"Multigenic/multifactorial, Not applicable"
66662,Extracutaneous mastocytoma,Disease,Disorder,2A21.3,0019025,C96.2,,C0272202,,,,Extracutaneous mastocytoma,All ages,
67036,Autosomal dominant optic atrophy and cataract,Disease,Disorder,9C40.8,0008133,H47.2,165300,C1833809,C537128,,10203,Autosomal dominant optic atrophy and cataract,Childhood,Autosomal dominant
66661,Mast cell sarcoma,Disease,Disorder,2A21.2,0019024,C96.2,,C0036221,D012515,,,Mast cell sarcoma,All ages,
66646,Cutaneous mastocytosis,Clinical group,Group of disorders,2A21.1,0019023,,,C1136033,D034701,,7842,Cutaneous mastocytosis,Childhood,Not applicable
66637,Diaphanospondylodysostosis,Malformation syndrome,Disorder,LD24.5Y,0011946,Q78.8,608022,C1842691,C564305,,,Diaphanospondylodysostosis,"Antenatal, Infancy, Neonatal",Autosomal recessive
66634,Dilated cardiomyopathy with ataxia,Disease,Disorder,5C50.E0,0012435,E71.1,610198,C1857776,C565706,,12964,Dilated cardiomyopathy with ataxia,"Childhood, Infancy",Autosomal recessive
66633,Sensorineural hearing loss-early graying-essential tremor syndrome,Disease,Disorder,LD2H.Y,0019022,H90.3,,C4510044,,,,Sensorineural hearing loss-early graying-essential tremor syndrome,Adult,Autosomal dominant
66631,CEDNIK syndrome,Disease,Disorder,LD27.2,0012290,Q82.8,609528,C1836033,C537943,,9940,CEDNIK syndrome,"Infancy, Neonatal",Autosomal recessive
66630,Congenital pseudoarthrosis of the clavicle,Disease,Disorder,LB72.Y,0007330,Q74.0,118980,C0265565,C562548,,,Congenital pseudoarthrosis of the clavicle,"Childhood, Infancy, Neonatal",Not applicable
66629,Goldberg-Shprintzen megacolon syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012280,Q87.8,609460,C1836123,C537279,,9849,Goldberg-Shprintzen megacolon syndrome,"Infancy, Neonatal",Autosomal recessive
66628,Obesity due to congenital leptin deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0013991,E66.8,614962,C3554224,,,13015,Obesity due to congenital leptin deficiency,Childhood,Autosomal recessive
66627,Tenosynovial giant cell tumor,Disease,Disorder,,0024686,M12.2,,C1318543,D000070779,,7396,Tenosynovial giant cell tumor,"Adolescent, Adult, Childhood",Not applicable
66625,Cerebrooculonasal syndrome,Malformation syndrome,Disorder,LD20.Y,0011575,Q87.0,605627,C1854108,C565313,,3480,Cerebrooculonasal syndrome,"Antenatal, Neonatal",Autosomal dominant
66624,PANDAS,Disease,Disorder,8E4A.0,0019020,G96.8,,C2931429,C537163,,7312,PANDAS,Childhood,Not applicable
66529,Tako-Tsubo cardiomyopathy,Disease,Disorder,BC43.5,0019018,I42.8,,C1739395,D054549,10066286,9400,Tako-Tsubo cardiomyopathy,All ages,Unknown
66518,Short fifth metacarpals-insulin resistance syndrome,Disease,Disorder,5A44,0019017,E34.8,,C4303621,,,,Short fifth metacarpals-insulin resistance syndrome,Adolescent,Autosomal dominant
65798,Goodman syndrome,Malformation syndrome,Disorder,,0008711,Q87.0,201020,C0265303,,,2549,,,
65283,Timothy syndrome,Malformation syndrome,Disorder,BC65.0,0010979,I49.8,601005,C1832916,C536962,10079205,9294,Timothy syndrome,"Antenatal, Neonatal",Autosomal dominant
65282,Carvajal syndrome,Disease,Disorder,BC43.6,0011581,I42.0,615821,C1854063,C535581,,5595,Carvajal syndrome,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
562639,Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,Disease,Disorder,DB96.Y,0034189,K75.4,,C5680117,,,,Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,All ages,
65285,Lhermitte-Duclos disease,Clinical subtype,Subtype of disorder,2A00.21,0019002,Q04.8,158350,C0391826,,,6901,Lhermitte-Duclos disease,Adult,"Autosomal dominant, Not applicable"
65284,Biotin-thiamine-responsive basal ganglia disease,Disease,Disorder,5C63.Y,0011841,G93.8,607483,C1843807,C537658,,10237,Biotin-thiamine-responsive basal ganglia disease,"Adult, Childhood, Infancy",Autosomal recessive
65287,Beta-ureidopropionase deficiency,Disease,Disorder,5C55.1,0013164,E79.8,613161,C1291512,C563210,,,Beta-ureidopropionase deficiency,"Infancy, Neonatal",Autosomal recessive
65286,3q29 microdeletion syndrome,Malformation syndrome,Disorder,LD44.30,0012269,Q93.5,609425,C2674949,C567184,,11974,3q29 microdeletion syndrome,"Infancy, Neonatal",Autosomal dominant
65681,Vaginal atresia,Morphological anomaly,Disorder,LB42.5,0019007,Q52.0,,C1321884,,10046879,,Vaginal atresia,Childhood,Not applicable
65288,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,Malformation syndrome,Disorder,KB60.2Y,0012192,P70.2,609069,C1836780,C563796,,,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,"Infancy, Neonatal",Autosomal recessive
65683,Isolated focal cortical dysplasia,Disease,Disorder,LA05.51,0019009,Q04.8,607341,C4707795,,,,Isolated focal cortical dysplasia,All ages,
65682,Benign recurrent intrahepatic cholestasis,Disease,Disorder,5C58.04,0019008,K83.1,605479,C0149841,,10087038,12185,Benign recurrent intrahepatic cholestasis,All ages,"Autosomal dominant, Autosomal recessive"
65720,Arthrogryposis-severe scoliosis syndrome,Malformation syndrome,Disorder,LD26.4Y,0012195,Q68.8,609128,C1836756,C563791,,,Arthrogryposis-severe scoliosis syndrome,Neonatal,
65684,Monomelic amyotrophy,Disease,Disorder,8B60.6,0011224,G12.8,602440,C1865384,C538253,10069681,9697,Monomelic amyotrophy,"Adolescent, Adult",Unknown
65748,Multiple self-healing squamous epithelioma,Disease,Disorder,2C31.1,0007566,D48.5,132800,C0546476,,,3090,Multiple self-healing squamous epithelioma,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
65743,Autosomal dominant multiple pterygium syndrome,Malformation syndrome,Disorder,LD26.40,0008338,Q79.8,178110,C1867440,C566739,,,Autosomal dominant multiple pterygium syndrome,Childhood,Autosomal dominant
65759,Carpenter syndrome,Malformation syndrome,Disorder,LD24.GY,0019012,Q87.0,201000,C1275078,C563187,10081310,6003,Carpenter syndrome,"Antenatal, Childhood, Neonatal",Autosomal recessive
65753,Charcot-Marie-Tooth disease type 1,Clinical group,Group of disorders,8C20.0,0019011,,,C0751036,,,12433,Charcot-Marie-Tooth disease type 1,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
64744,IgG4-related thyroid disease,Clinical subtype,Subtype of disorder,4A43.0,0018992,E06.5,,C0154162,,10039142,,IgG4-related thyroid disease,Adult,Not applicable
64745,Pruritic urticarial papules and plaques of pregnancy,Disease,Disorder,JA65.12,0008353,O26.8,178995,C0269680,C535817,10066100,9635,Pruritic urticarial papules and plaques of pregnancy,"Adolescent, Adult",
64746,Autosomal dominant Charcot-Marie-Tooth disease type 2,Clinical group,Group of disorders,8C20.1,0018993,,,C5548211,,,12431,Autosomal dominant Charcot-Marie-Tooth disease type 2,All ages,Autosomal dominant
64747,X-linked Charcot-Marie-Tooth disease,Clinical group,Group of disorders,8C20.0,0018994,,,C4551551,,,12444,X-linked Charcot-Marie-Tooth disease,,"X-linked dominant, X-linked recessive"
64748,Dejerine-Sottas syndrome,Disease,Disorder,8C20.Y,0007790,G60.0,145900,C0011195,,,9204,Dejerine-Sottas syndrome,Infancy,"Autosomal dominant, Autosomal recessive, Not applicable"
64749,Charcot-Marie-Tooth disease type 4,Clinical group,Group of disorders,8C20.0,0018995,,,C4082197,,,12440,Charcot-Marie-Tooth disease type 4,"Childhood, Infancy",Autosomal recessive
64751,Hereditary motor and sensory neuropathy type 5,Disease,Disorder,8C20.Y,0010877,G60.0,600361,C4721916,,,9208,Hereditary motor and sensory neuropathy type 5,Adult,Autosomal dominant
562509,Heme oxygenase-1 deficiency,Disease,Disorder,,0013536,E88.8,614034,C1841651,C564200,,,Heme oxygenase-1 deficiency,"Adolescent, Childhood",Autosomal recessive
64752,Hereditary sensory and autonomic neuropathy type 5,Disease,Disorder,8C21.3,0012092,G60.8,608654,C0020075,,,12328,Hereditary sensory and autonomic neuropathy type 5,"Infancy, Neonatal",Autosomal recessive
64753,Spinocerebellar ataxia with axonal neuropathy type 2,Disease,Disorder,9C82.4,18996,G60.2,615217,C1853761,,,12860,Spinocerebellar ataxia with axonal neuropathy type 2,"Adolescent, Adult, Childhood",Autosomal recessive
64754,Nevus comedonicus syndrome,Disease,Disorder,LD2D.Y,0014873,Q82.5,617025,C0265987,,,13073,Nevus comedonicus syndrome,"Childhood, Infancy, Neonatal",Not applicable
562528,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,Malformation syndrome,Disorder,,0014556,Q87.8,616266,C4225398,,,,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,"Antenatal, Neonatal",Autosomal dominant
64755,Becker nevus syndrome,Disease,Disorder,LC02,0011500,D22.5,604919,C1858042,C565735,,3856,Becker nevus syndrome,All ages,Not applicable
562559,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,Malformation syndrome,Disorder,,0013353,F72.8,613671,C3150924,,,,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,"Childhood, Infancy",Autosomal recessive
562538,Autosomal recessive extra-oral halitosis,Disease,Disorder,,0034186,E88.8,618148,C4748387,,,,Autosomal recessive extra-oral halitosis,,Autosomal recessive
65250,NON RARE IN EUROPE: Perineural cyst,Disease,Disorder,,0019000,,,C0520720,D052958,,9258,,,
65279,OBSOLETE: Lymphocytic colitis,Clinical subtype,Subtype of disorder,,,,,,,,,,,
562569,TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,Malformation syndrome,Disorder,LD2F.1Y,0032672,Q87.8,618316,C5193024,,,,TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,"Antenatal, Neonatal",Autosomal recessive
64686,Tolosa-Hunt syndrome,Disease,Disorder,8A85,0018983,H49.8,,C0040381,D020333,10051526,7777,Tolosa-Hunt syndrome,All ages,
64545,Benign idiopathic neonatal seizures,Disease,Disorder,,0018981,,,C0393693,,,,,,
64542,"Acrofacial dysostosis, Kennedy-Teebi type",Malformation syndrome,Disorder,LD25.2,0018980,Q75.4,,C4304094,,,,"Acrofacial dysostosis, Kennedy-Teebi type","Infancy, Neonatal",Autosomal recessive
64280,Childhood absence epilepsy,Disease,Disorder,8A61.21,0010826,G40.3,612269,C4281785,,,,Childhood absence epilepsy,"Adolescent, Childhood",Autosomal dominant
64722,Granulomatous mastitis,Disease,Disorder,GB21.Y,0018987,N61,,C0405469,D058890,,,Granulomatous mastitis,"Adolescent, Adult, Elderly",
64720,Leiomyosarcoma,Disease,Disorder,,0005058,C49.9,,C0023269,D007890,10024189,6880,Leiomyosarcoma,"Adolescent, Adult, Childhood, Elderly",Not applicable
64694,Trench fever,Disease,Disorder,1C11.1,0005991,A79.0,,C0040830,D014205,10044582,,Trench fever,All ages,
64692,Bartonella bacilliformis infection,Disease,Disorder,1C11.0,,A44.0,,C4552012,D001474,,,Bartonella bacilliformis infection,All ages,
64739,Ovarian hyperstimulation syndrome,Disease,Disorder,GA32.0,0011972,N98.1,608115,C0085083,D016471,10033266,,Ovarian hyperstimulation syndrome,"Adolescent, Adult",Not applicable
64738,NON RARE IN EUROPE: Non rare thrombophilia,Disease,Disorder,,,D68.5,,,,,,,,
64734,Iridocorneal endothelial syndrome,Disease,Disorder,LA11.Y,0018988,H21.1,,C1096100,D057129,10053678,60,Iridocorneal endothelial syndrome,Adult,Not applicable
64743,Hepatoportal sclerosis,Histopathological subtype,Subtype of disorder,,0018991,K74.1,,C4273756,,,,Hepatoportal sclerosis,All ages,
64742,Pleuropulmonary blastoma,Disease,Disorder,XH2FY9,0011014,C34.1,601200,C1266144,C537516,10080682,8757,Pleuropulmonary blastoma,"Infancy, Neonatal","Autosomal dominant, Not applicable"
64741,Pulmonary blastoma,Disease,Disorder,XH5VH1,0005933,C34.3,,C0206629,D018202,,,Pulmonary blastoma,Adult,Multigenic/multifactorial
561854,FOXG1 syndrome,Disease,Disorder,,0035383,Q04.8,613454,C3150705,,,12825,FOXG1 syndrome,Neonatal,
64740,NON RARE IN EUROPE: Recurrent acute pancreatitis,Disease,Disorder,,,,,,,,,,,
63261,HERNS syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
63269,Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,Clinical subtype,Subtype of disorder,LD24.GY,0008726,Q87.8,201750,C3150099,,,,Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,,Autosomal recessive
63259,Iniencephaly,Morphological anomaly,Disorder,LA00.1,0018968,Q00.2,,C0152234,,10022034,10506,Iniencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
63260,Craniorachischisis,Morphological anomaly,Disorder,LA00.00,0018969,Q00.1,,C0152426,,10011321,10504,Craniorachischisis,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
63440,OBSOLETE: Isolated oxycephaly,Morphological anomaly,Disorder,,,,,,,,,,,
63442,Angel-shaped phalango-epiphyseal dysplasia,Malformation syndrome,Disorder,LD24.8Y,0007114,Q78.8,105835,C1739384,C536361,10066017,671,Angel-shaped phalango-epiphyseal dysplasia,All ages,Autosomal dominant
63273,FLNC-related handgrip and calf weakness-distal myopathy,Disease,Disorder,8C75,0013550,G71.0,614065,C4518807,,,,FLNC-related handgrip and calf weakness-distal myopathy,"Adolescent, Adult",Autosomal dominant
63275,Pemphigoid gestationis,Disease,Disorder,JA65.10,0006558,L12.8,,C0019343,D006559,10019939,6497,Pemphigoid gestationis,"Adolescent, Adult",
63454,Pattern dystrophy,Category,Group of disorders,,,,,C1868569,C536309,,9821,Pattern dystrophy,Adult,"Autosomal dominant, Autosomal recessive"
63455,Paraneoplastic pemphigus,Disease,Disorder,EB40.2,0018974,L10.8,,C1112570,,10057056,,Paraneoplastic pemphigus,All ages,Not applicable
63443,Rare epithelial tumor of stomach,Category,Group of disorders,,,,,C5680118,,10017758,,Rare epithelial tumor of stomach,Adult,"Multigenic/multifactorial, Not applicable"
63446,Acrocapitofemoral dysplasia,Malformation syndrome,Disorder,LD24.8Y,0011907,Q78.8,607778,C1843096,C564334,,10605,Acrocapitofemoral dysplasia,"Infancy, Neonatal",Autosomal recessive
63999,IgG4-related mediastinitis,Clinical subtype,Subtype of disorder,CB22.0,0018978,J98.5,,C0264573,C536136,10027074,8337,IgG4-related mediastinitis,,Not applicable
63862,Schisis association,Malformation syndrome,Disorder,,0018976,Q87.8,,C2931271,C536633,,246,Schisis association,"Antenatal, Neonatal","Not applicable, Unknown"
60040,Megalencephaly-capillary malformation-polymicrogyria syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011240,Q87.3,602501,C1865285,C536142,,6950,Megalencephaly-capillary malformation-polymicrogyria syndrome,"Antenatal, Neonatal",Not applicable
60039,Pudendal nerve entrapment syndrome,Disease,Disorder,GA34.0Y,0018957,G58.8,,C3178970,D060545,,10713,Pudendal nerve entrapment syndrome,Adult,Not applicable
60041,Congenital heart block,Disease,Disorder,LA8Y,0009326,Q24.6,234700,C0149530,C535758,10019263,6164,Congenital heart block,"Infancy, Neonatal",Not applicable
60032,Recurrent respiratory papillomatosis,Disease,Disorder,2F00.1,0018955,J98.8,,C1168198,C535297,10059314,111,Recurrent respiratory papillomatosis,"Adolescent, Adult, Childhood, Infancy",Not applicable
60033,Idiopathic bronchiectasis,Disease,Disorder,CA24,0018956,J47,613071,C0339985,,,,Idiopathic bronchiectasis,All ages,Not applicable
59303,Neonatal ichthyosis-sclerosing cholangitis syndrome,Disease,Disorder,DB96.2Y,0011874,Q80.8,607626,C1843355,C564365,,10583,Neonatal ichthyosis-sclerosing cholangitis syndrome,Neonatal,Autosomal recessive
563954,Isolated congenital hypoglossia,Clinical subtype,Subtype of disorder,LA31.1,0035411,Q38.3,,C0025988,,,,,,
59305,Gestational trophoblastic neoplasm,Clinical group,Group of disorders,2C75.0,0018944,,,C1135868,,10061988,6498,Gestational trophoblastic neoplasm,Adult,Not applicable
563951,Isolated congenital aglossia,Clinical subtype,Subtype of disorder,LA31.1,0035410,Q38.3,,C0158663,,10001501,,,,
59306,McLeod neuroacanthocytosis syndrome,Disease,Disorder,3A10.Y,0018945,G10,300842,C4510408,,10081507,10731,McLeod neuroacanthocytosis syndrome,Adult,X-linked recessive
59298,Schilder disease,Disease,Disorder,8A40.Y,0010085,G37.0,272100,C0007795,D002549,,,Schilder disease,Childhood,
60015,Enlarged parietal foramina,Malformation syndrome,Disorder,LB70.Y,0018953,Q75.8,609597,C1868598,,,,Enlarged parietal foramina,"Antenatal, Neonatal",Autosomal dominant
564003,Osteochondrosis of the metatarsal bone,Disease,Disorder,FB82.1,0023188,M92.7,,C0264099,C535636,,2380,Osteochondrosis of the metatarsal bone,"Adolescent, Adult",
60025,Pulmonary alveolar microlithiasis,Disease,Disorder,CB06,0009928,J84.0,265100,C0155912,C562405,10037315,11894,Pulmonary alveolar microlithiasis,All ages,"Autosomal recessive, Not applicable"
563991,Osteochondrosis of the tarsal bone,Disease,Disorder,,16086,M92.6,,C0022765,,,6842,Osteochondrosis of the tarsal bone,"Adolescent, Childhood",
60026,Pulmonary nodular lymphoid hyperplasia,Disease,Disorder,CB40.Y,0008348,J98.4,178610,C1334969,,10077412,,Pulmonary nodular lymphoid hyperplasia,"Adolescent, Adult, Childhood",
564178,Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,Disease,Disorder,GB90.4Y,,E83.4,618314,C5681271,,,,Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,"Infancy, Neonatal",Autosomal dominant
564127,Genetic nephrotic syndrome,Clinical group,Group of disorders,,,,,C5680119,,,,,,
60030,Loeys-Dietz syndrome,Malformation syndrome,Disorder,BD50.Z,0018954,Q87.4,610168,C2697932,D055947,10081284,10788,Loeys-Dietz syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
59315,Rhombencephalosynapsis,Malformation syndrome,Disorder,LA06.Y,0018946,Q04.3,,C1866130,,10090354,,Rhombencephalosynapsis,"Antenatal, Infancy, Neonatal",Not applicable
60014,Argyria,Disease,Disorder,ED6Y,0018952,T56.8,,C0003782,D001129,10003094,,Argyria,All ages,Not applicable
57777,NON RARE IN EUROPE: Cirrhotic cardiomyopathy,Disease,Disorder,,0018932,,,C4511053,,,,,,
57196,Medial condensing osteitis of the clavicle,Disease,Disorder,LB72.Y,0018929,M85.3,,C5396729,,,10910,Medial condensing osteitis of the clavicle,"Adolescent, Adult, Childhood",Not applicable
57194,OBSOLETE: Aseptic osteitis,Disease,Disorder,,,,,,,,,,,
563690,Furuncular myiasis due to Cordylobia rodhaini,Clinical subtype,Subtype of disorder,1G01.3,0035408,B87.0,,C5231033,,,,Furuncular myiasis due to Cordylobia rodhaini,All ages,
57146,Rare hepatic disease,Category,Group of disorders,,,,,C5681272,,,,,,
563708,Syndromic congenital sodium diarrhea,Disease,Disorder,DA90.1,0034204,K90.8,270420,C5680120,,,,Syndromic congenital sodium diarrhea,"Antenatal, Neonatal",Autosomal recessive
57145,SUNCT syndrome,Disease,Disorder,8A82,0018927,G44.8,,C1262087,D050798,10061981,9257,SUNCT syndrome,Adult,Not applicable
563684,Furuncular myiasis due to Dermatobia hominis,Clinical subtype,Subtype of disorder,1G01.3,0035406,B87.0,,C0277400,,,,Furuncular myiasis due to Dermatobia hominis,All ages,
563687,Furuncular myiasis due to Cordylobia anthropophaga,Clinical subtype,Subtype of disorder,1G01.3,0035407,B87.0,,C4511624,,,,Furuncular myiasis due to Cordylobia anthropophaga,All ages,
56970,Human prion disease,Category,Group of disorders,,0018926,,,C0162534,D017096,10079301,,Human prion disease,Adult,
56965,Progressive bulbar paralysis of childhood,Disease,Disorder,,,,,,D010244,,,,,
563671,Mucinous cystadenoma of childhood,Histopathological subtype,Subtype of disorder,,0035404,D27,,C4708594,,,,Mucinous cystadenoma of childhood,Childhood,
56425,Cold agglutinin disease,Disease,Disorder,3A20.1,0018922,D59.1,,C0175816,,,6130,Cold agglutinin disease,Adult,Multigenic/multifactorial
563676,Seromucinous cystadenoma of childhood,Histopathological subtype,Subtype of disorder,,0035405,D27,,C5231009,,,,Seromucinous cystadenoma of childhood,Childhood,
59181,Sorsby fundus dystrophy,Disease,Disorder,9B61,0007640,H35.5,136900,C1850938,C564992,,,Sorsby fundus dystrophy,Adult,Autosomal dominant
59135,Laing distal myopathy,Disease,Disorder,,0008050,G71.0,160500,C4552004,,,10769,Laing distal myopathy,Childhood,Autosomal dominant
58220,OBSOLETE: Microscopic colitis,Disease,Disorder,,,,,,,,,,,
58208,NON RARE IN EUROPE: Pericarditis,Disease,Disorder,,,,,,,,,,,
58040,Osteoblastoma,Disease,Disorder,2E83.Z,0018936,D16.5,,C0029417,D018215,,,,,
58017,Classic hairy cell leukemia,Disease,Disorder,2A82.2,,C91.4,,C0023443,D007943,10019053,6560,Classic hairy cell leukemia,Adult,Unknown
57782,Mazabraud syndrome,Malformation syndrome,Disorder,FB80.0,0018933,M85.0,,C3697137,,10081724,,Mazabraud syndrome,Adult,Not applicable
55595,TNP03-related limb-girdle muscular dystrophy D2,Disease,Disorder,8C70.40,0012034,G71.0,608423,C1842062,C564242,,,TNP03-related limb-girdle muscular dystrophy D2,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
55596,HNRNPDL-related limb-girdle muscular dystrophy D3,Disease,Disorder,,0012193,G71.0,609115,C1836765,C563794,,,HNRNPDL-related limb-girdle muscular dystrophy D3,"Adolescent, Adult",Autosomal dominant
54595,Craniopharyngioma,Disease,Disorder,2F9A,0018907,D44.4,,C0010276,D003397,10011318,10486,Craniopharyngioma,All ages,Not applicable
54368,Sarcocystosis,Disease,Disorder,1A34,0018903,A07.8,,C0036231,D012523,10039483,,Sarcocystosis,All ages,
54370,Primary membranoproliferative glomerulonephritis,Disease,Disorder,MF8Y,0018904,N03.5,615008,C0017662,D015432,10018370,11982,Primary membranoproliferative glomerulonephritis,Adult,Not applicable
54272,Hepatocellular adenoma,Disease,Disorder,2E92.7,0018902,D13.4,,C0206669,D018248,10019827,,Hepatocellular adenoma,"Adult, Elderly",
56304,Atelosteogenesis type II,Malformation syndrome,Disorder,LD24.03,0009727,Q77.5,256050,C1850554,C535395,,8329,Atelosteogenesis type II,"Infancy, Neonatal",Autosomal recessive
563666,Serous cystadenoma of childhood,Histopathological subtype,Subtype of disorder,,0035403,D27,,C4708593,,,,Serous cystadenoma of childhood,Childhood,
56305,Atelosteogenesis type III,Malformation syndrome,Disorder,LD24.E,0007168,Q78.8,108721,C3668942,C579928,,10608,Atelosteogenesis type III,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
563612,Isolated exencephaly,Clinical subtype,Subtype of disorder,LA00.0Y,0035402,Q00.0,,C0266453,,,,Isolated exencephaly,Antenatal,
563609,Isolated anencephaly,Clinical subtype,Subtype of disorder,LA00.0,0035401,Q00.0,,C0002902,,10002320,,Isolated anencephaly,Antenatal,Multigenic/multifactorial
56044,Carcinoma of gallbladder and extrahepatic biliary tract,Clinical group,Group of disorders,,0018918,,,C5566557,,10007426,,Carcinoma of gallbladder and extrahepatic biliary tract,Adult,Not applicable
563589,Seronegative autoimmune hepatitis,Clinical subtype,Subtype of disorder,DB96.0,0035400,K75.4,,C5680121,,,,Seronegative autoimmune hepatitis,Adult,
55880,Chondrosarcoma,Disease,Disorder,2B50,0008977,C49.9,215300,C0008479,D002813,10008734,6055,Chondrosarcoma,Adult,"Not applicable, Unknown"
563581,Autoimmune hepatitis type 2,Clinical subtype,Subtype of disorder,DB96.0,0021176,K75.4,,C4303163,,,,Autoimmune hepatitis type 2,"Adolescent, Adult, Childhood",
55881,Adamantinoma,Disease,Disorder,2B5J,0002422,C40.2,102660,C0334556,D050398,,,Adamantinoma,"Adolescent, Adult, Childhood",Not applicable
563576,Autoimmune hepatitis type 1,Clinical subtype,Subtype of disorder,DB96.0,0005543,K75.4,,C4303164,,,,Autoimmune hepatitis type 1,Adult,
55654,Hypotrichosis simplex,Disease,Disorder,EC21.2,0018914,L65.8,614238,C1854310,C537160,,9170,Hypotrichosis simplex,Childhood,"Autosomal dominant, Autosomal recessive"
55655,Pneumococcal meningitis,Disease,Disorder,1B53,0006913,G00.1,,C0025295,D008586,10027253,,,,
79217,Other metabolic disease with skin involvement,Category,Group of disorders,,,,,C5681273,,,,,,
79215,Oligosaccharidosis,Category,Group of disorders,5C56.21,0019251,,,C5547641,,,,,,
79214,Disorder of biogenic amine metabolism and transport,Category,Group of disorders,,0019250,,,C5681274,,,,,,
79219,Metabolic disease involving other neurotransmitter deficiency,Category,Group of disorders,,0019253,,,C5681275,,,,,,
565837,Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23,Disease,Disorder,,0029136,G71.0,618138,C5680122,,,,Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23,,Autosomal recessive
565858,Craniosynostosis-microretrognathia-severe intellectual disability syndrome,Malformation syndrome,Disorder,,0032642,Q87.8,618265,C5780021,,,,Craniosynostosis-microretrognathia-severe intellectual disability syndrome,"Antenatal, Neonatal",Autosomal dominant
79207,Disorder of lysosomal amino acid transport,Category,Group of disorders,,0019246,,,C5681276,,,,,,
565788,Infantile inflammatory bowel disease with neurological involvement,Disease,Disorder,DD7Y,0032601,D89.8,618213,C5568565,,,,Infantile inflammatory bowel disease with neurological involvement,Infancy,Autosomal recessive
79213,Mucopolysaccharidosis,Category,Group of disorders,5C56.3,0019249,,,C0026703,D009083,10028093,7065,,,
79212,Mucolipidosis,Category,Group of disorders,5C56.20,0019248,,,C0026697,D009081,10072939,,,,
565899,POMGNT2-related limb-girdle muscular dystrophy R24,Disease,Disorder,,0035432,G71.0,618135,C5680123,,,,POMGNT2-related limb-girdle muscular dystrophy R24,"Adolescent, Infancy",
79211,OBSOLETE: Combined hyperlipidemia,Category,Group of disorders,,,,,,,,,,,
565909,Calpain-3-related limb-girdle muscular dystrophy D4,Disease,Disorder,,0035433,G71.0,618129,C4748295,,,,Calpain-3-related limb-girdle muscular dystrophy D4,Adult,Autosomal dominant
79233,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,Disease,Disorder,5C55.0Y,0010299,E79.8,300323,C0268117,C562583,,,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,All ages,X-linked recessive
79230,HJV or HAMP-related hemochromatosis,Disease,Disorder,5C64.10,0019257,E83.1,602390,C0268060,C537247,,10092,HJV or HAMP-related hemochromatosis,"Adolescent, Adult, Childhood",Autosomal recessive
79237,Galactokinase deficiency,Disease,Disorder,5C51.41,0009255,E74.2,230200,C0268155,,,2422,Galactokinase deficiency,"Infancy, Neonatal",Autosomal recessive
566067,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,Disease,Disorder,4A00.Y,0035437,D89.8,260570,C5568564,,,,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,"Adolescent, Neonatal",Autosomal recessive
79234,Crigler-Najjar syndrome type 1,Clinical subtype,Subtype of disorder,5C58.00,0021020,E80.5,218800,C0010324,,10057034,47,Crigler-Najjar syndrome type 1,Neonatal,Autosomal recessive
79235,Crigler-Najjar syndrome type 2,Clinical subtype,Subtype of disorder,5C58.00,0011725,E80.5,606785,C2931132,C536213,10011387,8683,Crigler-Najjar syndrome type 2,"Infancy, Neonatal",Autosomal recessive
79224,Disorder of purine or pyrimidine metabolism,Category,Group of disorders,,0019254,,,C0034139,D011686,10037546,,,,
79225,Sphingolipidosis,Category,Group of disorders,5C56.0,0019255,,,C0037899,D013106,,7672,,,
79226,Sterol metabolism disorder,Category,Group of disorders,,0019256,,,C5681277,,,,,,
79183,Disorder of ketolysis,Category,Group of disorders,5C52.02,0019229,,,C5681845,,,,,,
79185,Disorder of ornithine or proline metabolism,Category,Group of disorders,,0019230,,,C5681278,,,,,,
79187,Disorder of peptide metabolism,Category,Group of disorders,5C50.F,0019232,,,C4736193,,,,,,
79186,Disorder of pentose phosphate metabolism,Category,Group of disorders,5C51.0,0019231,,,C5681279,,,,,,
79189,Peroxisome biogenesis disorder,Clinical group,Group of disorders,5C57.0,0019234,,202370,C1832200,C536664,,11890,Peroxisome biogenesis disorder,"Infancy, Neonatal",Autosomal recessive
79188,Peroxisomal beta-oxidation disorder,Category,Group of disorders,,0019233,,,C5681280,,,12470,,,
79175,Disorder of gamma-aminobutyric acid metabolism,Category,Group of disorders,5C59.1,,,,C4702813,,,,,,
79174,Disorder of fatty acid oxidation and ketone body metabolism,Category,Group of disorders,,0019223,E71.3,,C5681281,,,,,,
79177,Gluconeogenesis disorder,Category,Group of disorders,,0019225,,,C1398833,,,,,,
79179,Disorder of glycerol metabolism,Category,Group of disorders,5C51.1,,,,C0342762,,,,,,
79178,Glucose transport disorder,Category,Group of disorders,,0019226,,,C5389835,,,,,,
79181,Disorder of histidine metabolism,Category,Group of disorders,5C50.2,0019228,,,C0268512,,,,,,
79200,Disorder of energy metabolism,Category,Group of disorders,,0019243,,,C5681282,,,,,,
565624,Combined oxidative phosphorylation defect type 39,Disease,Disorder,5C53.23,0032726,E88.8,618397,C5193075,,,,Combined oxidative phosphorylation defect type 39,"Antenatal, Infancy, Neonatal",Autosomal recessive
565612,Primary triglyceride deposit cardiomyovasculopathy,Etiological subtype,Subtype of disorder,,0035423,E75.5,,C5680124,,,,Primary triglyceride deposit cardiomyovasculopathy,Adult,Autosomal recessive
79201,Glycogen storage disease,Category,Group of disorders,5C51.3,0002412,E74.0,,C0017919,D006008,10061990,,,,
565779,Rare disorder potentially indicated for transplant or complication after transplantation,Category,Group of disorders,,,,,C5681283,,,,,,
565641,Primary desmosis coli,Disease,Disorder,DB32.Y,0034846,Q43.2,,C5680125,,,,,,
79204,Lipid storage disease,Category,Group of disorders,,,,,C0023794,,,,,,
565782,Methotrexate toxicity,Disease,Disorder,NE60,0034212,Y14,,C0568062,,,,Methotrexate toxicity,All ages,Not applicable
79190,Disorder of phenylalanin or tyrosine metabolism,Category,Group of disorders,,0019235,,,C5681284,,,,,,
79191,Disorder of purine metabolism,Category,Group of disorders,5C55.0,0019236,,,C0268104,,10061476,,,,
79192,Disorder of pyridoxine metabolism,Category,Group of disorders,5C59.2,0019237,,,C5681285,,,,,,
79193,Disorder of pyrimidine metabolism,Category,Group of disorders,5C55.1,0019238,,,C0268127,,10070969,,,,
79194,Disorder of serine or glycine metabolism,Category,Group of disorders,,0019239,,,C5681286,,,,,,
79195,Sterol biosynthesis disorder,Category,Group of disorders,,0019240,,,C5681287,,,,,,
79196,Disorder of the gamma-glutamyl cycle,Category,Group of disorders,5C50.5,0019241,,,C0268517,,,,Disorder of the gamma-glutamyl cycle,"Childhood, Infancy, Neonatal",Autosomal recessive
79197,Disorder of branched-chain amino acid metabolism,Category,Group of disorders,5C50.D,0019242,,,C0342712,,,,,,
79157,2-methylbutyryl-CoA dehydrogenase deficiency,Disease,Disorder,5C50.E0,0012392,E71.1,610006,C1864912,C566487,,10322,2-methylbutyryl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
79156,Seizures-intellectual disability due to hydroxylysinuria syndrome,Disease,Disorder,5C50.4,0009373,E72.3,236900,C4510221,,,,Seizures-intellectual disability due to hydroxylysinuria syndrome,Infancy,Autosomal recessive
79155,Hydroxykynureninuria,Disease,Disorder,5C50.3,,E70.8,236800,C0268474,C536081,,10039,Hydroxykynureninuria,"Infancy, Neonatal",Autosomal recessive
79154,2-aminoadipic 2-oxoadipic aciduria,Disease,Disorder,,0008774,E72.3,204750,C1859817,,,,2-aminoadipic 2-oxoadipic aciduria,"Childhood, Infancy",Autosomal recessive
79153,Idiopathic trachyonychia,Disease,Disorder,EC22.0,0008060,L60.3,,C5681288,,,10363,Idiopathic trachyonychia,Childhood,Autosomal dominant
79152,Disseminated superficial actinic porokeratosis,Disease,Disorder,ED52,0019212,Q82.8,616631,C0265970,,10085766,10983,Disseminated superficial actinic porokeratosis,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
79151,Acrokeratosis verruciformis of Hopf,Disease,Disorder,EC20.Y,0007048,Q82.8,101900,C0265971,,10069445,,Acrokeratosis verruciformis of Hopf,"Adult, Infancy, Neonatal",Autosomal dominant
79150,Linear and whorled nevoid hypermelanosis,Disease,Disorder,EC23.0,0013688,L81.4,614323,C1304501,,,11004,Linear and whorled nevoid hypermelanosis,"Infancy, Neonatal",
79149,Dermochondrocorneal dystrophy,Disease,Disorder,EC4Y,0009094,L98.8,221800,C0432288,C535375,,1815,Dermochondrocorneal dystrophy,Childhood,Autosomal recessive
79148,Elastosis perforans serpiginosa,Disease,Disorder,EE70.Y,0007529,L87.2,130100,C0221271,C536202,10014338,10103,Elastosis perforans serpiginosa,All ages,
79147,Familial reactive perforating collagenosis,Disease,Disorder,EE70.Y,0009000,L87.1,216700,C1857624,C565687,,13331,Familial reactive perforating collagenosis,Childhood,
79146,Familial progressive hyperpigmentation,Disease,Disorder,EC23.0,0013648,L81.4,614233,C1840392,C564163,,,Familial progressive hyperpigmentation,"Infancy, Neonatal",Autosomal dominant
79145,Dowling-Degos disease,Disease,Disorder,EC23.0,0008371,L81.8,615696,C3714534,C562924,10068651,9775,Dowling-Degos disease,"Adolescent, Adult",Autosomal dominant
79144,Isolated congenital onychodysplasia,Disease,Disorder,EC22.0,0011595,Q84.6,605779,C1274658,,,9761,Isolated congenital onychodysplasia,Neonatal,
79143,Isolated congenital anonychia,Disease,Disorder,EC22.0,0019211,Q84.3,614149,C0265998,C536377,,,Isolated congenital anonychia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
79142,NON RARE IN EUROPE: Familial Dupuytren contracture,Disease,Disorder,,,,,,,,,,,
79172,Creatine deficiency syndrome,Clinical group,Group of disorders,,0000456,,,C5244016,,10084104,,Creatine deficiency syndrome,"Childhood, Infancy","Autosomal recessive, Not applicable, X-linked recessive"
79173,Disorder of methionine cycle and sulfur amino acid metabolism,Category,Group of disorders,5C50.B,0019222,E72.1,,C5680126,,,,,,
79171,Disorder of cobalamin metabolism and transport,Category,Group of disorders,5C63.0,0019220,,,C5681844,,,,,,
79168,Disorder of bile acid synthesis,Category,Group of disorders,,0019218,,,C0400973,,10088265,,Disorder of bile acid synthesis,All ages,
79169,Disorder of neurotransmitter metabolism and transport,Category,Group of disorders,,0019219,,,C5681289,,,,,,
79166,Disorder of amino acid absorption and transport,Category,Group of disorders,5C60,0019216,E72.0,,C0268641,,,,,,
79167,Disorder of urea cycle metabolism and ammonia detoxification,Category,Group of disorders,,,E72.2,,C5681290,,,7837,,,
79163,Classic organic aciduria,Category,Group of disorders,5C50.E0,0019215,,,C5681291,,,,,,
79161,Disorder of carbohydrate metabolism,Category,Group of disorders,,0019214,,,C0149670,,10061023,,,,
79158,Cerebral organic aciduria,Category,Group of disorders,5C50.E1,,,,C5681292,,,,,,
79159,Isobutyryl-CoA dehydrogenase deficiency,Disease,Disorder,5C50.E0,0012648,E71.1,611283,C1969809,C535541,,10223,Isobutyryl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
79107,Developmental malformations-deafness-dystonia syndrome,Malformation syndrome,Disorder,LD2H.Y,0011823,Q87.8,607371,C4303590,,,9818,Developmental malformations-deafness-dystonia syndrome,"Adolescent, Infancy",Autosomal dominant
566231,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,Disease,Disorder,5A00.00,0034216,E07.8,190120,C5680127,,,,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,All ages,Autosomal dominant
79106,Eiken syndrome,Malformation syndrome,Disorder,FB83.0Y,0010803,M85.8,600002,C1838779,C564010,,,Eiken syndrome,"Infancy, Neonatal",Autosomal recessive
566243,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,Disease,Disorder,5A00.00,0034217,E07.8,274300,C1840364,,,,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,All ages,Autosomal recessive
79118,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,Disease,Disorder,GB8Y,0012436,P70.2,610199,C4510367,,,,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,Neonatal,Autosomal recessive
566393,Acute mast cell leukemia,Clinical subtype,Subtype of disorder,2A21.00,0035444,C94.3,,C5680128,,,,Acute mast cell leukemia,,Not applicable
79113,Mandibulofacial dysostosis-microcephaly syndrome,Malformation syndrome,Disorder,,0012516,Q87.0,610536,C1864652,C537405,,10056,Mandibulofacial dysostosis-microcephaly syndrome,Neonatal,Autosomal dominant
79102,Thyrotoxic periodic paralysis,Disease,Disorder,5A02.Y,0019201,G72.3,614834,C0268446,,10043788,10814,Thyrotoxic periodic paralysis,Adult,"Multigenic/multifactorial, Not applicable"
79105,Myxofibrosarcoma,Disease,Disorder,2B53.0,0019202,C49.9,,C3714524,,10066948,,Myxofibrosarcoma,Adult,Not applicable
79099,Interstitial granulomatous dermatitis with arthritis,Disease,Disorder,LD27.0Y,0019199,L30.8,,C4751206,,,,Interstitial granulomatous dermatitis with arthritis,Adult,Not applicable
79098,Sympathetic ophthalmia,Disease,Disorder,9B65.0,0019198,H44.1,,C0029077,D009879,10042742,,Sympathetic ophthalmia,All ages,Not applicable
79101,Hyperprolinemia type 2,Disease,Disorder,5C50.8,0009401,E72.5,239510,C2931835,C538385,10058514,6710,Hyperprolinemia type 2,All ages,Autosomal recessive
566192,Congenital autosomal recessive small-platelet thrombocytopenia,Disease,Disorder,3B64.01,0035441,D69.1,273900,C5680129,,,,Congenital autosomal recessive small-platelet thrombocytopenia,Neonatal,Autosomal recessive
79100,Atrophoderma vermiculata,Disease,Disorder,ED56,0008849,L66.4,604093,C0263429,,,9744,Atrophoderma vermiculata,Childhood,"Autosomal recessive, Unknown"
79095,Congenital bile acid synthesis defect type 4,Disease,Disorder,5C52.11,0008967,K76.8,614307,C3280428,C535444,,10046,Congenital bile acid synthesis defect type 4,All ages,Autosomal recessive
79094,Grange syndrome,Malformation syndrome,Disorder,LD28.Y,0011243,Q87.8,602531,C1865267,C566529,,,Grange syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
566175,Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,Disease,Disorder,DA96.Y,,D84.1,226300,C4538570,,10085728,,Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,"Childhood, Infancy",Autosomal recessive
79097,Folinic acid-responsive seizures,Disease,Disorder,5C59.Y,0019197,G40.3,,C4273952,,,,Folinic acid-responsive seizures,"Infancy, Neonatal",Unknown
79096,Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy,Disease,Disorder,5C63.Y,0012407,G40.8,610090,C1864723,C566449,,10730,Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy,"Infancy, Neonatal",Autosomal recessive
79138,Bickerstaff brainstem encephalitis,Disease,Disorder,8C01.0,0019208,G61.0,,C1960543,,10076985,,Bickerstaff brainstem encephalitis,All ages,Not applicable
79139,Japanese encephalitis,Disease,Disorder,1C85,0019209,A83.0,,C0014057,D004672,10014596,6797,Japanese encephalitis,All ages,Not applicable
79140,Cutaneous neuroendocrine carcinoma,Disease,Disorder,2C34,0019210,C44.3,,C0007129,,,9266,Cutaneous neuroendocrine carcinoma,"Adult, Elderly",Not applicable
79141,Hereditary painful callosities,Disease,Disorder,EC20.31,0007248,Q82.8,114140,C1861964,C566180,,,Hereditary painful callosities,No data available,Autosomal dominant
79134,DEND syndrome,Disease,Disorder,KB60.2Y,0019207,P70.2,606176,C4303593,,,,DEND syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
79135,Episodic ataxia type 3,Disease,Disorder,8A03.14,0011682,G11.8,606554,C1847839,C564697,,,Episodic ataxia type 3,All ages,Autosomal dominant
79136,Episodic ataxia type 4,Disease,Disorder,8A03.14,0011681,G11.8,606552,C1847843,C564698,,,Episodic ataxia type 4,Adult,Autosomal dominant
79137,Generalized epilepsy-paroxysmal dyskinesia syndrome,Disease,Disorder,8A61.2Y,0012276,G40.3,609446,C1836173,C563719,,,Generalized epilepsy-paroxysmal dyskinesia syndrome,Childhood,Autosomal dominant
79129,Trichodysplasia-amelogenesis imperfecta syndrome,Malformation syndrome,Disorder,LD27.0Y,0019205,Q82.4,,C4304344,,,,Trichodysplasia-amelogenesis imperfecta syndrome,"Infancy, Neonatal",X-linked recessive
79132,OBSOLETE: Sparse hair-short stature-skin anomalies syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
79133,Focal facial dermal dysplasia type I,Clinical subtype,Subtype of disorder,LD27.0Y,0007627,Q82.8,136500,C5235196,,,,Focal facial dermal dysplasia type I,"Antenatal, Neonatal",Autosomal dominant
79124,Hepatic veno-occlusive disease-immunodeficiency syndrome,Disease,Disorder,4A01.33,0009338,K76.5,235550,C4510630,,,10083,Hepatic veno-occlusive disease-immunodeficiency syndrome,Infancy,Autosomal recessive
566396,Chronic mast cell leukemia,Clinical subtype,Subtype of disorder,2A21.00,0035445,C94.3,,C5680130,,,,Chronic mast cell leukemia,,Not applicable
79126,Acute interstitial pneumonia,Disease,Disorder,CB03.0,0019203,J84.1,178500,C0085786,,10066728,12835,Acute interstitial pneumonia,Adult,Unknown
79127,Respiratory bronchiolitis-interstitial lung disease syndrome,Disease,Disorder,CB03.6,0019204,J68.4,,C1735355,,10066393,,Respiratory bronchiolitis-interstitial lung disease syndrome,Adult,Not applicable
79128,Lymphoid interstitial pneumonia,Disease,Disorder,CB03.5,0009537,J84.1,247610,C0264511,C562489,10062997,,Lymphoid interstitial pneumonia,All ages,Not applicable
77293,Chronic visceral acid sphingomyelinase deficiency,Disease,Disorder,5C56.0Y,0011871,E75.2,607616,C0268243,D052537,,10729,Chronic visceral acid sphingomyelinase deficiency,Childhood,Autosomal recessive
77295,Odontoleukodystrophy,Clinical subtype,Subtype of disorder,8A44,0019177,E75.2,607694,C3502054,C564344,,9632,Odontoleukodystrophy,Infancy,Autosomal recessive
77261,Gaucher disease type 3,Clinical subtype,Subtype of disorder,5C56.0Y,0009267,E75.2,231000,C0268251,,10075699,2443,Gaucher disease type 3,All ages,Autosomal recessive
77292,Infantile neurovisceral acid sphingomyelinase deficiency,Disease,Disorder,5C56.0Y,0009756,E75.2,257200,C0268242,D052536,,7206,Infantile neurovisceral acid sphingomyelinase deficiency,"Infancy, Neonatal",Autosomal recessive
77298,Anophthalmia/microphthalmia-esophageal atresia syndrome,Malformation syndrome,Disorder,LD21.0,0008799,Q87.8,206900,C1859773,C565948,,1443,Anophthalmia/microphthalmia-esophageal atresia syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
77299,Microphthalmia-brain atrophy syndrome,Malformation syndrome,Disorder,LD21.0,0012638,Q11.2,611222,C1970013,C566985,,9292,Microphthalmia-brain atrophy syndrome,Neonatal,Autosomal recessive
77296,Morgagni-Stewart-Morel syndrome,Malformation syndrome,Disorder,FB80.3,0007766,M85.2,144800,C0020494,D006957,10081545,8593,Morgagni-Stewart-Morel syndrome,Adult,"Autosomal dominant, X-linked recessive"
77297,Majeed syndrome,Disease,Disorder,4A00.Y,0012316,D84.8,609628,C1864997,C537839,10072223,10088,Majeed syndrome,"Childhood, Infancy",Autosomal recessive
77302,Oculo-oto-facial dysplasia,Malformation syndrome,Disorder,,,,,,,,,,,
77303,OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect,Etiological subtype,Subtype of disorder,,,,,,,,,,,
567502,B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,Disease,Disorder,LD2F.1Y,0035454,Q87.8,609296,C1836437,C563745,,,B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,Antenatal,Autosomal dominant
77300,Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,Malformation syndrome,Disorder,,0019178,Q87.0,,C4518478,,,,Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,"Antenatal, Infancy, Neonatal",Unknown
77301,Monosomy 9q22.3 syndrome,Malformation syndrome,Disorder,LD44.90,0019179,Q93.5,,C3711390,C579873,,,Monosomy 9q22.3 syndrome,"Infancy, Neonatal","Not applicable, Unknown"
567550,Idiopathic multidrug-resistant nephrotic syndrome,Clinical subtype,Subtype of disorder,,0035459,N04.8,,C5681293,,,,Idiopathic multidrug-resistant nephrotic syndrome,All ages,
77828,Genetic obesity,Category,Group of disorders,,0019182,,,C5681294,,,,,,
567548,Idiopathic steroid-resistant nephrotic syndrome,Clinical syndrome,Disorder,GB41,0031008,N04.8,619263,C1868672,C536404,,,Idiopathic steroid-resistant nephrotic syndrome,"Adolescent, Adult, Childhood",
567546,Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,Clinical syndrome,Disorder,GB41,0035764,N04.8,,C5680131,,,,Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,All ages,
77304,OBSOLETE: Not NOTCH3-related small vessel disease of the brain,Disease,Disorder,,,,,,,,,,,
567544,Idiopathic non-lupus full-house nephropathy,Clinical syndrome,Disorder,GB4Y,0035763,N05,,C5680132,,,,Idiopathic non-lupus full-house nephropathy,All ages,
567556,Genetic systemic disease with glomerulopathy as a major feature,Category,Group of disorders,,,,,C5681295,,,,,,
79022,Simpson-Golabi-Behmel syndrome type 2,Malformation syndrome,Disorder,,,,,C1846175,,,,,,
567558,Non-genetic systemic disease with glomerulopathy as a major feature,Category,Group of disorders,,,,,C5681296,,,,,,
567552,Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy,Clinical subtype,Subtype of disorder,,0035460,N04.8,,C5680133,,,,Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy,All ages,
567554,Systemic disease with glomerulopathy as a major feature,Category,Group of disorders,,,,,C5681297,,,,,,
77830,Rare genetic odontologic disease,Category,Group of disorders,,,,,C5681298,,,,,,
567564,Nephrotic syndrome without extrarenal manifestations,Category,Group of disorders,,,,,C5681299,,,,Nephrotic syndrome without extrarenal manifestations,All ages,
79083,PPARG-related familial partial lipodystrophy,Disease,Disorder,5A44,0011448,E88.1,604367,C1720861,,,12600,PPARG-related familial partial lipodystrophy,Adult,Autosomal dominant
79078,IgG4-related dacryoadenitis and sialadenitis,Clinical subtype,Subtype of disorder,4A43.0,0019191,K11.8,,C0026103,D008882,10051457,7043,IgG4-related dacryoadenitis and sialadenitis,All ages,Not applicable
567560,Systemic vasculitis associated with glomerulopathy,Category,Group of disorders,,,,,C5681300,,,,,,
79076,Juvenile polyposis of infancy,Clinical subtype,Subtype of disorder,2B90.Y,0019190,D12.6,612242,C5445164,,,,Juvenile polyposis of infancy,"Infancy, Neonatal","Autosomal dominant, Not applicable"
567562,Disorder with multisystemic involvement and glomerulopathy,Category,Group of disorders,,,,,C5681301,,,,,,
79062,Disorder of amino acid and other organic acid metabolism,Category,Group of disorders,,0019189,,,C0342666,,,,,,
79087,Acquired partial lipodystrophy,Disease,Disorder,EF01.0,0012104,E88.1,608709,C0220989,C562448,,10509,Acquired partial lipodystrophy,"Adolescent, Adult, Childhood","Multigenic/multifactorial, Not applicable"
79086,Acquired generalized lipodystrophy,Disease,Disorder,5A44,0019193,E88.1,,C0271693,,10087376,12603,Acquired generalized lipodystrophy,All ages,Not applicable
79085,AKT2-related familial partial lipodystrophy,Disease,Disorder,5A44,0019192,E88.1,,C5680134,,,,AKT2-related familial partial lipodystrophy,Adult,Autosomal dominant
79084,"Familial partial lipodystrophy, Köbberling type",Disease,Disorder,5A44,0012072,E88.1,608600,C1720859,,,12598,"Familial partial lipodystrophy, Köbberling type",Childhood,Autosomal dominant
567983,Parenteral nutrition-associated cholestasis,Particular clinical situation in a disease or syndrome,Disorder,DB99.60,0035777,K76.8,,C3274301,,10074151,,Parenteral nutrition-associated cholestasis,All ages,
79093,OBSOLETE: Foix-Alajouanine syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
568041,Primary lymphedema without systemic or visceral involvement,Category,Group of disorders,,,,,C5681302,,,,,,
79091,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,Disease,Disorder,4A41.21,0019195,G71.8,605637,C4510610,,,9494,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,"Adolescent, Infancy, Neonatal",Autosomal dominant
79088,Localized lipodystrophy,Clinical group,Group of disorders,,0019194,,,C4329999,,10088837,5867,Localized lipodystrophy,All ages,Unknown
75327,North Carolina macular dystrophy,Disease,Disorder,9B75.Y,0007630,H35.5,608850,C0730294,C537835,,9179,North Carolina macular dystrophy,Childhood,Autosomal dominant
75373,Progressive bifocal chorioretinal atrophy,Disease,Disorder,9B70,0010932,H35.5,600790,C1833321,C535356,,10123,Progressive bifocal chorioretinal atrophy,"Infancy, Neonatal",Autosomal dominant
75374,Bradyopsia,Disease,Disorder,9D7Y,0012033,H53.8,608415,C1842073,C564243,,12299,Bradyopsia,Childhood,Autosomal recessive
75376,Familial drusen,Disease,Disorder,9B70,0007471,H35.5,126700,C1832174,C535602,,1912,Familial drusen,Adult,Autosomal dominant
75377,Central areolar choroidal dystrophy,Disease,Disorder,9B61,0008982,H31.2,613144,C1536451,C535358,,10049,Central areolar choroidal dystrophy,Adult,Autosomal dominant
75378,Oligocone trichromacy,Disease,Disorder,9B70,0019151,H35.8,,C4302876,,,,Oligocone trichromacy,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
75381,Cystoid macular dystrophy,Disease,Disorder,9B70,0007935,H35.5,153880,C0024440,,10058202,,Cystoid macular dystrophy,Childhood,Autosomal dominant
75382,Oguchi disease,Malformation syndrome,Disorder,9B70,0019152,H53.6,613411,C1306122,C537743,,10118,Oguchi disease,"Infancy, Neonatal",Autosomal recessive
566847,Aprosencephaly/atelencephaly spectrum,Morphological anomaly,Disorder,LA05.Y,0035448,Q04.3,,C5680135,,,,,,
75389,Brain malformation-congenital heart disease-postaxial polydactyly syndrome,Malformation syndrome,Disorder,LD2F.1Y,0019153,Q87.8,,C4303545,,,,Brain malformation-congenital heart disease-postaxial polydactyly syndrome,"Infancy, Neonatal",Unknown
566841,Liver adenomatosis,Disease,Disorder,,0035447,D13.4,,C5680136,,,,Liver adenomatosis,"Adult, Elderly",
75391,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,Disease,Disorder,,0012383,D84.8,609981,C4518328,,,,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,Childhood,Autosomal recessive
566857,Aprosencephaly,Clinical subtype,Subtype of disorder,LA05.Y,0035450,Q04.3,,C0431349,,,,,,
75392,Periodontal Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0007527,Q79.6,130080,C0268347,C562626,,12474,Periodontal Ehlers-Danlos syndrome,Childhood,Autosomal dominant
566852,Atelencephaly,Clinical subtype,Subtype of disorder,LA05.Y,0035449,Q04.3,,C0431348,,,,,,
75496,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,Clinical subtype,Subtype of disorder,LD28.1Y,0007526,Q79.6,130070,C5680137,C536201,,,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,Neonatal,Autosomal recessive
75497,X-linked Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0010586,Q79.6,314400,C0268341,C536197,,,X-linked Ehlers-Danlos syndrome,Adolescent,X-linked recessive
566862,Left isomerism,Malformation syndrome,Disorder,LA8Y,0035451,Q20.6,,C0344694,,,,,,
75501,"OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type",Disease,Disorder,,,,,,,,,,,
75508,Angioosteohypotrophic syndrome,Malformation syndrome,Disorder,,0019156,,,C4707561,,,,,,
75563,X-linked sideroblastic anemia,Disease,Disorder,3A72.00,0020721,D64.0,300751,C4551511,C536761,,9456,X-linked sideroblastic anemia,All ages,X-linked recessive
566943,Mueller-Weiss syndrome,Disease,Disorder,,0035452,M87.8,,C4761149,,10082326,,Mueller-Weiss syndrome,Adult,
75565,Tropical endomyocardial fibrosis,Disease,Disorder,BC43.20,0019158,I42.3,,C2882252,,,,Tropical endomyocardial fibrosis,"Adolescent, Adult, Childhood",Not applicable
75564,Acquired idiopathic sideroblastic anemia,Disease,Disorder,2A33,19157,D64.3,,C4016601,,,8249,Acquired idiopathic sideroblastic anemia,Adult,Not applicable
75567,Primary progressive freezing gait,Clinical syndrome,Disorder,8A0Y,0019160,G31.8,,C4275078,,,,Primary progressive freezing gait,Adult,Unknown
75566,Loeffler endocarditis,Disease,Disorder,BC43.20,0019159,I42.3,,C0206143,,10052841,,Loeffler endocarditis,"Adolescent, Adult, Childhood",
75790,Pollitt syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
75789,SIBIDS syndrome,Disease,Disorder,,,,,,,,,,,
75857,6q terminal deletion syndrome,Malformation syndrome,Disorder,LD44.60,0019164,Q93.5,,C4304514,,,,6q terminal deletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
75840,Ullrich congenital muscular dystrophy,Disease,Disorder,8C70.6,0000355,G71.2,254090,C4551860,,,4769,Ullrich congenital muscular dystrophy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
77240,Primary lymphedema,Category,Group of disorders,BD93.0,0019175,,,C0238261,,,,Primary lymphedema,All ages,"Autosomal dominant, Autosomal recessive"
75858,MORM syndrome,Disease,Disorder,9B70,0012423,Q87.8,610156,C1857802,C536984,,10121,MORM syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
77242,OBSOLETE: Lymphedema tarda,Disease,Disorder,,,,,,,,,,,
77241,OBSOLETE: Lymphedema praecox,Malformation syndrome,Disorder,,,,,,,,,,,
77258,Trichorhinophalangeal syndrome type 1,Malformation syndrome,Disorder,LD27.0Y,0019176,Q87.1,190351,C5816692,,,,Trichorhinophalangeal syndrome type 1,"Infancy, Neonatal",Autosomal dominant
77243,NON RARE IN EUROPE: Lipedema,Disease,Disorder,,,,614103,,,,,,,
77260,Gaucher disease type 2,Clinical subtype,Subtype of disorder,5C56.0Y,0009266,E75.2,230900,C0268250,,10075698,2442,Gaucher disease type 2,Infancy,Autosomal recessive
77259,Gaucher disease type 1,Clinical subtype,Subtype of disorder,5C56.0Y,0009265,E75.2,230800,C1961835,,10075697,2441,Gaucher disease type 1,All ages,Autosomal recessive
73271,Bleeding diathesis due to a collagen receptor defect,Disease,Disorder,3B62.Y,0019138,D69.8,614201,C5190736,,,,Bleeding diathesis due to a collagen receptor defect,All ages,"Autosomal dominant, Autosomal recessive"
73263,Zygomycosis,Disease,Disorder,1F2C,0019136,B46.9,,C0043541,D020096,10061418,10224,Zygomycosis,All ages,Not applicable
73267,Non-24-hour sleep-wake syndrome,Disease,Disorder,7A6Z,0019137,G47.2,,C5545668,,,10949,Non-24-hour sleep-wake syndrome,All ages,Unknown
73256,Central neurocytoma,Disease,Disorder,2A00.3,0019134,D33.0,,C0206719,,,10641,Central neurocytoma,"Adolescent, Adult, Childhood",Not applicable
73260,Paracoccidioidomycosis,Disease,Disorder,1F2E.1,0005894,B41.7,,C0030409,D010229,10061906,7323,Paracoccidioidomycosis,All ages,Not applicable
73246,Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,Malformation syndrome,Disorder,,0019133,Q87.8,,C4304402,,,,Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,"Antenatal, Neonatal",Autosomal recessive
73247,NON RARE IN EUROPE: Eosinophilic esophagitis,Disease,Disorder,DA24.1,,,,,,,,,,
569821,Congenital primary lymphedema of Gordon,Disease,Disorder,BD93.0,0035500,Q82.0,615907,C5680138,,,,Congenital primary lymphedema of Gordon,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
73423,Acute ackee fruit intoxication,Disease,Disorder,NE61,0019140,T62.2,,C0274888,,,9299,Acute ackee fruit intoxication,All ages,Not applicable
569816,CELSR1-related late-onset primary lymphedema,Disease,Disorder,,0035499,Q82.0,619319,C5681848,,,,CELSR1-related late-onset primary lymphedema,"Adolescent, Childhood, Infancy, Neonatal",Autosomal dominant
73274,OBSOLETE: Acquired hemophilia,Disease,Disorder,,,,,,,,,,,
73272,Growth delay due to insulin-like growth factor type 1 deficiency,Disease,Disorder,5A61.0,0012110,E34.3,608747,C1837475,C563867,,10627,Growth delay due to insulin-like growth factor type 1 deficiency,"Antenatal, Infancy, Neonatal",Autosomal recessive
73273,Growth delay due to insulin-like growth factor I resistance,Disease,Disorder,5A61.0,0010038,E34.3,270450,C1849157,C564816,,10609,Growth delay due to insulin-like growth factor I resistance,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
75326,Familial isolated retinal arteriolar tortuosity,Disease,Disorder,,0008373,H35.0,180000,C5779553,,,,Familial isolated retinal arteriolar tortuosity,Childhood,"Autosomal dominant, Not applicable"
75325,Osteosclerosis-ichthyosis-premature ovarian failure syndrome,Disease,Disorder,LD2F.1Y,0012387,M85.8,609993,C4302815,C536064,,9904,Osteosclerosis-ichthyosis-premature ovarian failure syndrome,"Adolescent, Adult",Unknown
75249,Familial isolated restrictive cardiomyopathy,Disease,Disorder,BC43.2Y,0019150,I42.5,619433,C5680139,,,,Familial isolated restrictive cardiomyopathy,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
75234,Cholesteryl ester storage disease,Clinical subtype,Subtype of disorder,5C56.0Y,0019149,E75.5,278000,C0008384,D015217,,12099,Cholesteryl ester storage disease,"Adolescent, Adult, Childhood",Autosomal recessive
75233,Wolman disease,Clinical subtype,Subtype of disorder,5C56.0Y,0019148,E75.5,278000,C0043208,D015223,10053687,7899,Wolman disease,"Infancy, Neonatal",Autosomal recessive
75110,Myiasis,Category,Group of disorders,,0019147,B87,,C0027030,D009198,10028586,,,,
568065,EPHB4-related lymphatic-related hydrops fetalis,Disease,Disorder,,0035475,P83.2,617300,C5680140,,,,EPHB4-related lymphatic-related hydrops fetalis,Antenatal,Autosomal dominant
71290,Familial platelet disorder with associated myeloid malignancy,Disease,Disorder,3B62.3,0011071,D69.1,601399,C1832388,C563324,,10352,Familial platelet disorder with associated myeloid malignancy,,Autosomal dominant
568062,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,Disease,Disorder,,0035474,Q82.0,616843,C4225184,,,,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
71291,Hereditary vascular retinopathy,Disease,Disorder,,,,,,,,,,,
71493,Familial thrombocytosis,Disease,Disorder,3B63.0,0019111,D68.8,614521,C4303761,,,,Familial thrombocytosis,Childhood,"Autosomal dominant, X-linked recessive"
71505,Cancer-associated retinopathy,Disease,Disorder,9B71.4,0019112,H35.8,,C0730307,D059545,10065311,,Cancer-associated retinopathy,Adult,Not applicable
568047,Disorder with multisystemic involvement and primary lymphedema,Category,Group of disorders,,,,,C5681303,,,,,,
568044,Primary lymphedema with systemic or visceral involvement,Category,Group of disorders,,,,,C5681304,,,,,,
568056,Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,Disease,Disorder,,0035473,Q82.0,,C5568569,,,,Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,"Infancy, Neonatal",
568051,GJC2-related late-onset primary lymphedema,Disease,Disorder,,0035472,Q82.0,613480,C5681305,,,,GJC2-related late-onset primary lymphedema,"Adolescent, Adult, Childhood",Autosomal dominant
71289,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,Malformation syndrome,Disorder,3B64.01,0011555,Q87.2,616738,C4303670,,,,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,Neonatal,Autosomal dominant
71526,Obesity due to pro-opiomelanocortin deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0012335,E66.8,609734,C1857854,C565726,10083937,10823,Obesity due to pro-opiomelanocortin deficiency,"Infancy, Neonatal",Autosomal recessive
71528,Obesity due to prohormone convertase I deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0010961,E66.8,600955,C4302878,,,,Obesity due to prohormone convertase I deficiency,"Infancy, Neonatal",Autosomal recessive
71529,Obesity due to melanocortin 4 receptor deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0019115,E66.8,618406,C4273958,,,,Obesity due to melanocortin 4 receptor deficiency,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
569164,Angiomatoid fibrous histiocytoma,Disease,Disorder,,0012809,D21.9,612160,C1266127,C563181,,,Angiomatoid fibrous histiocytoma,"Adolescent, Adult, Childhood",
71516,OBSOLETE: Mixed dystonia,Category,Group of disorders,,,,,,,,,,,
71517,Rapid-onset dystonia-parkinsonism,Disease,Disorder,8A02.12,0007496,G24.1,128235,C1868681,C538001,10083658,9628,Rapid-onset dystonia-parkinsonism,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
71518,Benign paroxysmal torticollis of infancy,Disease,Disorder,8A02.2,0019113,G24.3,,C3494934,,,,Benign paroxysmal torticollis of infancy,"Childhood, Infancy, Neonatal","Autosomal dominant, Not applicable, Unknown"
71519,Psychogenic movement disorders,Clinical syndrome,Disorder,8A0Y,0019114,F44.4,,C0752208,,10072376,,Psychogenic movement disorders,"Adolescent, Adult, Childhood, Elderly",Not applicable
569274,Multiple mitochondrial dysfunctions syndrome type 5,Disease,Disorder,5C53.21,0033282,E88.8,617613,C4539919,,,,Multiple mitochondrial dysfunctions syndrome type 5,Infancy,Autosomal recessive
71862,OBSOLETE: Inherited retinal disorder,Category,Group of disorders,,0019118,,,C0854723,D058499,10038857,,,,
569290,Multiple mitochondrial dysfunctions syndrome type 6,Disease,Disorder,5C53.21,0054785,E88.8,617954,C4693741,,,,Multiple mitochondrial dysfunctions syndrome type 6,Infancy,Autosomal recessive
71864,Muscular channelopathy,Category,Group of disorders,,0019119,,,C5681306,,,,,,
71859,Rare genetic neurological disorder,Category,Group of disorders,,,,,C5681307,,,,,,
569248,Microcystic stromal tumor,Disease,Disorder,,0006339,D27,,C3838965,,,,Microcystic stromal tumor,Adult,
73229,HANAC syndrome,Disease,Disorder,GB4Y,0012726,I99,611773,C2673195,C567088,,10889,HANAC syndrome,Childhood,Autosomal dominant
73224,Kidney tubulopathy-dilated cardiomyopathy syndrome,Disease,Disorder,GB5Y,0019130,N25.8,620152,C4304399,,,,Kidney tubulopathy-dilated cardiomyopathy syndrome,Childhood,Autosomal dominant
73245,Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,Malformation syndrome,Disorder,,0019132,G12.8,,C4509964,,,,Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,"Infancy, Neonatal",Unknown
73230,Ossification anomalies-psychomotor developmental delay syndrome,Disease,Disorder,FB83.0Y,0019131,Q79.8,,C4302826,,,,Ossification anomalies-psychomotor developmental delay syndrome,"Infancy, Neonatal",
73217,Müllerian aplasia,Clinical group,Group of disorders,,0019128,,,C0431637,C537371,,7100,Müllerian aplasia,"Adolescent, Adult",Autosomal dominant
73014,Intractable diarrhea of infancy,Category,Group of disorders,,,,,C5848079,,,,Intractable diarrhea of infancy,Childhood,
73223,Global developmental delay-osteopenia-ectodermal defect syndrome,Malformation syndrome,Disorder,,0019129,Q87.8,,C4303570,,,,Global developmental delay-osteopenia-ectodermal defect syndrome,Childhood,Unknown
73220,X-linked intellectual disability-hypotonic face syndrome,Malformation syndrome,Disorder,,,,309580,,,,,,,
40366,Acitretin/etretinate embryopathy,Malformation syndrome,Disorder,LD2F.0Y,0018442,Q86.8,,C4510941,,,,Acitretin/etretinate embryopathy,"Antenatal, Neonatal",Not applicable
40923,Eales disease,Disease,Disorder,9B77,0018460,H35.0,,C0271073,C538011,10057429,6309,Eales disease,"Adolescent, Adult","Multigenic/multifactorial, Not applicable"
39812,Graft versus host disease,Disease,Disorder,4B24,0013730,T86.0,614395,C0018133,D006086,10018651,,Graft versus host disease,All ages,Not applicable
40050,NON RARE IN EUROPE: Psoriatic arthritis,Disease,Disorder,,,,,,,,,,,
530849,Familial apolipoprotein A5 deficiency,Etiological subtype,Subtype of disorder,,0007762,E78.3,145750,C5680141,,,6704,Familial apolipoprotein A5 deficiency,Adult,Autosomal recessive
39041,Omenn syndrome,Disease,Disorder,4A01.10,0011338,D81.8,603554,C2700553,,10069097,8198,Omenn syndrome,"Infancy, Neonatal",Autosomal recessive
530838,KRT1-related diffuse nonepidermolytic keratoderma,Disease,Disorder,,0010962,Q82.8,600962,C5680142,,,5186,KRT1-related diffuse nonepidermolytic keratoderma,"Childhood, Infancy",Autosomal dominant
39044,Uveal melanoma,Disease,Disorder,2D0Y,0006486,C69.3,606661,C0220633,C536494,10081431,8621,Uveal melanoma,Adult,Not applicable
530792,RELA fusion-positive ependymoma,Disease,Disorder,,0033980,D43.0,,C4289581,,,,RELA fusion-positive ependymoma,"Adolescent, Adult, Childhood, Infancy",
38874,Dihydropyrimidinuria,Disease,Disorder,5C55.1,0009111,E79.8,222748,C3495551,,,12347,Dihydropyrimidinuria,"Childhood, Infancy",Autosomal recessive
37748,Schnitzler syndrome,Malformation syndrome,Disorder,EB03,0018304,L50.8,,C0524988,D019873,10062908,12390,Schnitzler syndrome,Adult,Not applicable
530313,PIK3CA-related overgrowth syndrome,Clinical group,Group of disorders,,,,,C4728213,,10081236,,,,
530303,Progressive dementia with neuroserpin inclusion bodies,Clinical subtype,Subtype of disorder,,0035161,G31.8,604218,C5680143,,,,Progressive dementia with neuroserpin inclusion bodies,"Adult, Elderly",Autosomal dominant
37629,Neonatal neutropenia,Disease,Disorder,,,,,C0543693,,10029358,,,,
37612,Episodic ataxia type 1,Disease,Disorder,8A03.14,0008047,G11.8,160120,C1719788,C563278,,,Episodic ataxia type 1,"Adolescent, Childhood",Autosomal dominant
37559,Acquired kinky hair syndrome,Disease,Disorder,,0018302,L67.8,,C0263486,,,,,,
530298,Progressive myoclonic epilepsy with neuroserpin inclusion bodies,Clinical subtype,Subtype of disorder,,,G31.8,,C5680144,,,,Progressive myoclonic epilepsy with neuroserpin inclusion bodies,Adult,
37553,Andersen-Tawil syndrome,Disease,Disorder,BC65.0,0008222,G72.3,170390,C1563715,D050030,10083859,9453,Andersen-Tawil syndrome,Childhood,Autosomal dominant
37202,Interstitial cystitis,Disease,Disorder,GC00.3,0018301,N30.1,,C0282488,D018856,10011796,,Interstitial cystitis,All ages,Unknown
37042,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,Disease,Disorder,4A01.21,0010580,E31.0,304790,C0342288,C580192,10080631,1850,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,"Infancy, Neonatal",X-linked recessive
36913,Autoimmune hypoparathyroidism,Disease,Disorder,5A50.03,0018242,E20.8,,C0271865,,10090022,,Autoimmune hypoparathyroidism,"Adolescent, Adult, Childhood",Not applicable
36899,Myoclonus-dystonia syndrome,Disease,Disorder,8A02.11,0000903,G24.1,159900,C1834570,C536096,10084572,7139,Myoclonus-dystonia syndrome,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
68354,Rare sleep disorder,Category,Group of disorders,,,,,C5681308,D012893,10040984,,,,
68356,Leukodystrophy,Category,Group of disorders,8A44,0019046,,,C0023520,,10024381,6895,,,
68346,Rare genetic skin disease,Category,Group of disorders,,,,,C5680145,,,,,,
68347,Tumor of hematopoietic and lymphoid tissues,Category,Group of disorders,,,,,C5681309,,,,,,
68341,Multiple congenital anomalies/dysmorphic syndrome,Category,Group of disorders,,0019042,,,C5681310,,,,,,
68334,Rare hemorrhagic disorder due to a constitutional coagulation factors defect,Category,Group of disorders,,,,,C5680146,,,,,,
68336,Rare genetic tumor,Category,Group of disorders,,,,,C5681311,,,,,,
531151,9q21.13 microdeletion syndrome,Malformation syndrome,Disorder,,0035173,Q93.5,,C5681312,,,,9q21.13 microdeletion syndrome,"Childhood, Infancy",Not applicable
68335,Rare chromosomal anomaly,Category,Group of disorders,,,,,C5681313,D002869,,,,,
68329,Rare maxillo-facial surgical disease,Category,Group of disorders,,,,,C5680147,,,,,,
530983,Lamb-Shaffer syndrome,Disease,Disorder,,0014778,Q87.8,616803,C4225202,,,,Lamb-Shaffer syndrome,Infancy,Autosomal dominant
530995,Mixed phenotype acute leukemia,Disease,Disorder,2A61,0020743,C95.0,601626,C2826025,,,,Mixed phenotype acute leukemia,"Adolescent, Adult, Childhood",
41842,NON RARE IN EUROPE: Fibromyalgia,Disease,Disorder,,,M79.7,,,,,,,,
41751,Bietti crystalline dystrophy,Disease,Disorder,9B61,0008865,H35.5,210370,C1859486,C535440,,10050,Bietti crystalline dystrophy,"Adolescent, Adult",Autosomal recessive
42062,Iminoglycinuria,Disease,Disorder,5C60.Y,0009448,E72.0,242600,C0268654,C536285,,8424,Iminoglycinuria,All ages,Autosomal recessive
35705,Neurometabolic disorder due to serine deficiency,Category,Group of disorders,,0018162,,,C5680148,,,,Neurometabolic disorder due to serine deficiency,"Infancy, Neonatal",
35706,Glutaric acidemia type 3,Disease,Disorder,5C50.E0,0009283,E72.3,231690,C0342873,C562818,,12469,Glutaric acidemia type 3,All ages,Autosomal recessive
35704,L-Arginine:glycine amidinotransferase deficiency,Disease,Disorder,5C53.4,0012996,E72.8,612718,C2675179,C567192,,10323,L-Arginine:glycine amidinotransferase deficiency,Infancy,Autosomal recessive
35710,Glucose-galactose malabsorption,Disease,Disorder,5C61.0,0011731,E74.3,606824,C0268186,C562602,10066388,6521,Glucose-galactose malabsorption,"Infancy, Neonatal",Autosomal recessive
35737,Morning glory disc anomaly,Morphological anomaly,Disorder,LA13.7Y,0018169,Q14.2,120430,C3554721,,10027974,13354,Morning glory disc anomaly,Childhood,
35708,Aromatic L-amino acid decarboxylase deficiency,Disease,Disorder,5C59.00,0012084,G24.8,608643,C1291564,C537437,10084110,770,Aromatic L-amino acid decarboxylase deficiency,"Infancy, Neonatal",Autosomal recessive
35696,Mitochondrial disorder due to a defect in mitochondrial protein synthesis,Category,Group of disorders,,,,,C4700505,,,,,,
35688,OBSOLETE: Madelung deformity,Morphological anomaly,Disorder,,,,,,,,,,,
35689,Primary lateral sclerosis,Disease,Disorder,8B60.4,18155,G12.2,611637,C0154682,,10036704,10684,Primary lateral sclerosis,"Adult, Elderly","Autosomal dominant, Autosomal recessive, Not applicable"
35701,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,Disease,Disorder,5C52.02,0011614,E71.3,605911,C4510940,,,2712,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,Childhood,Autosomal recessive
35698,Mitochondrial DNA depletion syndrome,Category,Group of disorders,5C53.20,0018158,,,C0342782,,10059396,13643,Mitochondrial DNA depletion syndrome,All ages,
35612,Nanophthalmos,Malformation syndrome,Disorder,LA10.0,0005514,Q11.2,615972,C4274282,,,,Nanophthalmos,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
35173,X-linked dominant chondrodysplasia punctata,Disease,Disorder,LD24.04,0020603,Q77.3,302960,C0282102,,,6189,X-linked dominant chondrodysplasia punctata,"Antenatal, Infancy, Neonatal",X-linked dominant
35687,Erdheim-Chester disease,Disease,Disorder,2B31.Y,0018153,D76.3,,C0878675,D031249,10060801,6369,Erdheim-Chester disease,Adult,Not applicable
35686,Serpiginous choroiditis,Disease,Disorder,9B65.0,0018152,H30.8,,C0729842,,10081652,31,,,
35664,ALDH18A1-related De Barsy syndrome,Etiological subtype,Subtype of disorder,5C50.8,0009053,Q87.8,219150,C5234852,,,,ALDH18A1-related De Barsy syndrome,"Infancy, Neonatal","Autosomal recessive, Not applicable"
35656,Coenzyme Q10 deficiency,Clinical group,Group of disorders,5C53.22,0018151,,,C1843920,C564403,,10423,Coenzyme Q10 deficiency,All ages,Autosomal recessive
35120,Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,Disease,Disorder,3A10.Y,0009946,D55.3,266120,C1849507,C564859,,,Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,"Infancy, Neonatal",Autosomal recessive
35107,Desmosterolosis,Disease,Disorder,5C52.10,0011217,Q87.8,602398,C1865596,C566555,,10283,Desmosterolosis,"Antenatal, Infancy, Neonatal",Autosomal recessive
35099,Non-syndromic bicoronal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0018114,Q75.0,616602,C0221356,,,,Non-syndromic bicoronal craniosynostosis,"Infancy, Neonatal","Autosomal dominant, Not applicable"
35098,OBSOLETE: Isolated plagiocephaly,Morphological anomaly,Disorder,,,,,,,,,,,
35125,Epidermal nevus syndrome,Disease,Disorder,LC02,0018115,Q85.8,,C5848385,,10014985,,Epidermal nevus syndrome,"Infancy, Neonatal",Not applicable
35123,OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Disease,Disorder,,,,,,,,,,,
35122,Congenital sucrase-isomaltase deficiency,Disease,Disorder,5C61.2,0009114,E74.3,222900,C1283620,C538139,10066387,7710,Congenital sucrase-isomaltase deficiency,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
35121,Lysosomal acid phosphatase deficiency,Disease,Disorder,5C64.3,0008705,E83.3,200950,C0268410,,,,Lysosomal acid phosphatase deficiency,"Infancy, Neonatal",Autosomal recessive
36387,Genetic epilepsy with febrile seizure plus,Disease,Disorder,8A61.2Y,0018214,G40.3,620755,C3502809,C565808,,,Genetic epilepsy with febrile seizure plus,Childhood,Autosomal dominant
36388,Paraneoplastic neurologic syndrome,Category,Group of disorders,,0018215,,,C0751911,D020361,10072106,,Paraneoplastic neurologic syndrome,All ages,Not applicable
36397,Adiposis dolorosa,Disease,Disorder,EF02.1,0007070,E88.2,103200,C0001529,D000274,10001294,5750,Adiposis dolorosa,Adult,"Autosomal dominant, Not applicable"
36412,Hypocomplementemic urticarial vasculitis,Disease,Disorder,4A44.91,0018227,M31.8,,C0343206,,,6725,Hypocomplementemic urticarial vasculitis,"Adult, Childhood","Autosomal recessive, Not applicable"
36414,OBSOLETE: Brain stem tumor,Category,Group of disorders,,,,,,,,,,,
36426,Stevens-Johnson syndrome,Clinical subtype,Subtype of disorder,EB13.0,0018229,L51.1,608579,C0038325,D013262,10042033,7700,Stevens-Johnson syndrome,All ages,Not applicable
36297,NON RARE IN EUROPE: Anorexia nervosa,Disease,Disorder,,,F50.0,,,,,,,,
36355,Bleeding disorder due to P2Y12 defect,Disease,Disorder,3B62.Y,0012354,D69.1,609821,C4510945,,,12478,Bleeding disorder due to P2Y12 defect,Childhood,Autosomal recessive
36367,Distal deletion 1q syndrome,Malformation syndrome,Disorder,LD44.10,0018205,Q93.5,612337,C4273897,,,,Distal deletion 1q syndrome,Neonatal,
36382,OBSOLETE: Familial cervical artery dissection,Disease,Disorder,,,,,,,,,,,
36383,COL4A1/2-related familial vascular leukoencephalopathy,Disease,Disorder,,0008289,I67.8,175780,C4755307,,,,COL4A1/2-related familial vascular leukoencephalopathy,,Autosomal dominant
36386,Hereditary sensory and autonomic neuropathy type 1,Disease,Disorder,8C21.0,0018213,G60.8,615632,C0020071,,,6635,Hereditary sensory and autonomic neuropathy type 1,All ages,Autosomal dominant
36234,Bacterial toxic-shock syndrome,Disease,Disorder,1C45,0001881,A48.3,,C0600327,,10044248,9560,Bacterial toxic-shock syndrome,All ages,Not applicable
36205,OBSOLETE: Collagenous colitis,Clinical subtype,Subtype of disorder,,,,,,,,,,,
36236,Staphylococcal scalded skin syndrome,Disease,Disorder,EA50.2,0018181,L00,,C0038165,D013206,10041929,,Staphylococcal scalded skin syndrome,All ages,
36235,Staphylococcal scarlet fever,Disease,Disorder,EA50.3,0018180,A38,,C5848379,,10039587,,Staphylococcal scarlet fever,All ages,
36238,Staphylococcal necrotizing pneumonia,Disease,Disorder,CA40.06,0018183,J15.2,,C4706659,,,,Staphylococcal necrotizing pneumonia,Childhood,Not applicable
36237,Bullous impetigo,Disease,Disorder,1B72.0,0018182,L01.0,,C1542647,,10006563,,Bullous impetigo,All ages,Not applicable
36273,Gastric linitis plastica,Disease,Disorder,2B72.0,0018184,C16.9,,C4303226,,,,Gastric linitis plastica,Adult,
36258,Buerger disease,Disease,Disorder,4A44.8,0008889,I73.1,211480,C0040021,D013919,10043540,5969,Buerger disease,Adult,Not applicable
35808,Malignant sex cord stromal tumor of ovary,Category,Group of disorders,,0018172,,,C1334609,,,,Malignant sex cord stromal tumor of ovary,All ages,Not applicable
35807,Malignant germ cell tumor of ovary,Category,Group of disorders,2C73.Y,0018171,,603737,C0346180,C562841,10061893,9330,Malignant germ cell tumor of ovary,"Adolescent, Adult, Childhood, Elderly, Infancy",Unknown
35878,Hyperinsulinism-hyperammonemia syndrome,Disease,Disorder,5C50.AY,0011717,E72.8,606762,C1847555,C538375,,9931,Hyperinsulinism-hyperammonemia syndrome,"Infancy, Neonatal",Autosomal dominant
35858,Imerslund-Gräsbeck syndrome,Disease,Disorder,3A01.Y,0009853,D51.1,618882,C4551825,C538556,,7006,Imerslund-Gräsbeck syndrome,Childhood,Autosomal recessive
35909,Combined deficiency of factor V and factor VIII,Disease,Disorder,3B14.Z,0018175,D68.8,613625,C1856883,C565577,,,Combined deficiency of factor V and factor VIII,All ages,Autosomal recessive
35889,Acute opioid intoxication,Disease,Disorder,6C43.3,0018173,T40.2,,C5848046,,,,Acute opioid intoxication,All ages,Not applicable
36204,Intestinal lymphangiectasia,Clinical group,Group of disorders,BD92.0,0018178,,,C0024215,D008201,10025213,12331,Intestinal lymphangiectasia,All ages,Not applicable
35981,Polymicrogyria,Clinical group,Group of disorders,LA05.50,0000087,,,C0266464,D065706,10073489,,Polymicrogyria,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable, X-linked dominant"
33572,5-oxoprolinase deficiency,Disease,Disorder,5C50.5,0009825,E72.8,260005,C0268525,C535322,,5681,5-oxoprolinase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
33543,Kleine-Levin syndrome,Disease,Disorder,7A22,0007863,G47.8,148840,C0206085,D017593,10053712,3117,Kleine-Levin syndrome,"Adolescent, Adult, Childhood",
33475,Meningococcal meningitis,Disease,Disorder,1C1C.0,0018059,A39.0+,,C0025294,D008585,10027249,,Meningococcal meningitis,All ages,Not applicable
33445,Neuroectodermal melanolysosomal disease,Malformation syndrome,Disorder,LD27.Y,0009742,L81.4,256710,C1860157,C536203,,,Neuroectodermal melanolysosomal disease,Childhood,Autosomal recessive
33409,NON RARE IN EUROPE: Lichen sclerosus,Disease,Disorder,,,L90.0,,,,,,,,
33408,Bullous lichen planus,Disease,Disorder,EA91.Y,0018056,L43.1,,C0023648,,10056960,,Bullous lichen planus,Childhood,"Autosomal dominant, Not applicable"
535458,Familial GPIHBP1 deficiency,Etiological subtype,Subtype of disorder,,0014412,E78.3,615947,,,,,Familial GPIHBP1 deficiency,Adult,Autosomal recessive
33402,Pediatric hepatocellular carcinoma,Disease,Disorder,,0018055,C22.0,114550,C0279606,,,9331,Pediatric hepatocellular carcinoma,"Adolescent, Childhood",Not applicable
34412,NON RARE IN EUROPE: HAIR-AN syndrome,Disease,Disorder,,,,,,,,,,,
34217,Naxos disease,Disease,Disorder,BC43.6,0011017,Q87.8,601214,C1832600,C538346,,9795,Naxos disease,"Infancy, Neonatal",Autosomal recessive
34149,Autosomal dominant tubulointerstitial kidney disease,Disease,Disorder,GB82,0008264,Q61.5,174000,C4511620,,,10801,Autosomal dominant tubulointerstitial kidney disease,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
34145,Immunoglobulin A nephropathy,Disease,Disorder,MF8Y,0005342,N02,,C0017661,,10021263,,,,
33577,Nodular non-suppurative panniculitis,Disease,Disorder,EF00.Y,0018063,M35.6,,C0030328,D010201,10047883,7879,Nodular non-suppurative panniculitis,Adult,Not applicable
33574,Glutamate-cysteine ligase deficiency,Disease,Disorder,3A10.0Y,0009259,D55.1,230450,C0268523,,,,Glutamate-cysteine ligase deficiency,Infancy,Autosomal recessive
33573,Gamma-glutamyl transpeptidase deficiency,Disease,Disorder,5C50.5,0009285,E72.8,231950,C0268524,C536836,,10099,Gamma-glutamyl transpeptidase deficiency,Infancy,Autosomal recessive
33110,Autosomal non-syndromic agammaglobulinemia,Clinical subtype,Subtype of disorder,4A01.00,0011096,D80.0,613502,C1832241,C538056,,9640,Autosomal non-syndromic agammaglobulinemia,All ages,"Autosomal dominant, Autosomal recessive"
33111,Granulomatous slack skin,Disease,Disorder,XH0EH1,0018031,C84.0,,C0376407,,,10986,Granulomatous slack skin,Adult,Not applicable
33108,Lethal multiple pterygium syndrome,Malformation syndrome,Disorder,LD26.40,0009668,Q79.8,253290,C1854678,,,3834,Lethal multiple pterygium syndrome,Antenatal,"Autosomal recessive, X-linked recessive"
33067,"Metaphyseal chondrodysplasia, Jansen type",Disease,Disorder,LD24.7,0007982,Q78.5,156400,C0265295,C537564,,79,"Metaphyseal chondrodysplasia, Jansen type","Infancy, Neonatal",Autosomal dominant
33069,Dravet syndrome,Disease,Disorder,8A61.11,0011794,G40.4,615744,C0751122,,10073677,10430,Dravet syndrome,"Infancy, Neonatal",Autosomal dominant
33001,Lymphedema-distichiasis syndrome,Malformation syndrome,Disorder,BD93.0,0007922,Q82.0,153400,C0265345,C537710,,333,Lymphedema-distichiasis syndrome,All ages,Autosomal dominant
33355,Reticular dysgenesis,Disease,Disorder,4A01.10,0009973,D81.0,267500,C0272167,C538361,,8625,Reticular dysgenesis,"Infancy, Neonatal",Autosomal recessive
535453,Familial lipase maturation factor 1 deficiency,Etiological subtype,Subtype of disorder,,0009527,E78.3,246650,C1855498,,,10244,Familial lipase maturation factor 1 deficiency,Adult,Autosomal recessive
33364,Trichothiodystrophy,Disease,Disorder,EC21.1,0018053,L67.8,618891,C1955934,D054463,10044628,12109,Trichothiodystrophy,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
33276,Kaposi sarcoma,Disease,Disorder,2B57.1,0005055,C46.9,148000,C0036220,D012514,10023284,6814,Kaposi sarcoma,Adult,Not applicable
33314,Jessner lymphocytic infiltration of the skin,Disease,Disorder,EE90,0018051,L98.6,,C0580181,,10063628,6940,Jessner lymphocytic infiltration of the skin,Adult,Not applicable
33271,NON RARE IN EUROPE: Non-alcoholic fatty liver disease,Clinical syndrome,Disorder,,,,,,,,,,,
33208,Idiopathic hypersomnia,Disease,Disorder,7A21,0018044,G47.1,,C0751757,D020177,,8737,Idiopathic hypersomnia,All ages,Unknown
33226,Waldenström macroglobulinemia,Disease,Disorder,2A85.4,0100280,C88.0,610430,C0024419,D008258,10047801,7872,Waldenström macroglobulinemia,Elderly,Multigenic/multifactorial
35061,OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes,Disease,Disorder,,,,,,,,,,,
35056,NON RARE IN EUROPE: Trimethylaminuria,Disease,Disorder,,,,,,,,,,,
35069,Infantile neuroaxonal dystrophy,Disease,Disorder,5C64.10,,G23.0,610217,C0270724,,10088200,3957,Infantile neuroaxonal dystrophy,"Infancy, Neonatal",Autosomal recessive
35066,NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis,Disease,Disorder,,,B37,,,,,,,,
35093,Non-syndromic sagittal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0018112,Q75.0,123100,C5680150,,,,Non-syndromic sagittal craniosynostosis,"Infancy, Neonatal","Autosomal dominant, Not applicable"
35078,T-B+ severe combined immunodeficiency due to JAK3 deficiency,Disease,Disorder,4A01.10,0010938,D81.2,600802,C1833275,,,,T-B+ severe combined immunodeficiency due to JAK3 deficiency,"Infancy, Neonatal",Autosomal recessive
35063,Fulminant viral hepatitis,Disease,Disorder,1E50.Y,0018109,K72,,C0276624,,,,,,
35062,Severe disseminated cytomegalovirus infection in immunocompetent patients,Disease,Disorder,1D82.Y,,B25.8,,C5680152,,,,Severe disseminated cytomegalovirus infection in immunocompetent patients,All ages,Not applicable
35065,OBSOLETE: Idiopathic severe pneumococcemia,Disease,Disorder,,,,,,,,,,,
35064,OBSOLETE: Lethal idiopathic viral infection,Disease,Disorder,,,,,,,,,,,
34520,Congenital muscular dystrophy with integrin alpha-7 deficiency,Disease,Disorder,8C70.6,0013177,G71.2,613204,C2750786,C567709,,,Congenital muscular dystrophy with integrin alpha-7 deficiency,"Infancy, Neonatal",Autosomal recessive
34521,Distal myopathy with early respiratory muscle involvement,Disease,Disorder,,,,,,,,,,,
34514,Telethonin-related limb-girdle muscular dystrophy R7,Disease,Disorder,8C70.41,0011170,G71.0,601954,C1866008,C566599,,10471,Telethonin-related limb-girdle muscular dystrophy R7,"Adolescent, Childhood, Infancy",Autosomal recessive
34515,FKRP-related limb-girdle muscular dystrophy R9,Disease,Disorder,8C70.41,0011787,G71.0,607155,C1846672,C564612,,12533,FKRP-related limb-girdle muscular dystrophy R9,"Adolescent, Adult, Childhood",Autosomal recessive
34516,DNAJB6-related limb-girdle muscular dystrophy D1,Disease,Disorder,,0021018,G71.0,603511,C3501858,C566370,,,DNAJB6-related limb-girdle muscular dystrophy D1,Adult,Autosomal dominant
34517,Autosomal dominant limb-girdle muscular dystrophy type 1E,Disease,Disorder,,,,,C3148763,,,,,,
34587,Danon disease,Disease,Disorder,5C51.3,0010281,E74.0,300257,C0878677,,,9730,Danon disease,Childhood,X-linked dominant
34592,Immunodeficiency by defective expression of MHC class I,Disease,Disorder,4A01.11,0011476,D81.6,241600,C1858266,C565759,,8427,Immunodeficiency by defective expression of MHC class I,Childhood,Autosomal recessive
34526,OBSOLETE: Genetic primary hypomagnesemia,Category,Group of disorders,,,,,,,,,,,
34527,OBSOLETE: Familial primary hypomagnesemia with normocalciuria and normocalcemia,Disease,Disorder,,,,,,,,,,,
34528,Autosomal dominant primary hypomagnesemia with hypocalciuria,Disease,Disorder,5C64.41,0007937,E83.4,154020,C1835171,C537152,,3350,Autosomal dominant primary hypomagnesemia with hypocalciuria,All ages,Autosomal dominant
34533,Corneal dystrophy,Category,Group of disorders,9A70,0018102,H18.5,,C0010036,D003317,10011005,,Corneal dystrophy,All ages,"Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked recessive"
536391,RASopathy,Category,Group of disorders,,0021060,,,C5555857,,,,,,
536516,Myopathic Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0034022,Q79.6,616471,C5680153,,,,Myopathic Ehlers-Danlos syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
536471,Spondylodysplastic Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0034021,Q79.6,612350,C5680154,,,,Spondylodysplastic Ehlers-Danlos syndrome,"Infancy, Neonatal",
536467,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,Clinical subtype,Subtype of disorder,LD28.1Y,0014139,Q79.6,615349,C3809210,,,,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,Neonatal,Autosomal recessive
536545,Kyphoscoliotic Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0034024,Q79.6,,C4551497,C536198,,2083,Kyphoscoliotic Ehlers-Danlos syndrome,"Antenatal, Neonatal",
536532,Classical-like Ehlers-Danlos syndrome type 2,Disease,Disorder,,0054813,Q79.6,618000,C4693870,,,,Classical-like Ehlers-Danlos syndrome type 2,"Infancy, Neonatal",Autosomal recessive
537072,PLG-related hereditary angioedema with normal C1Inh,Clinical subtype,Subtype of disorder,4A00.14,0035220,T78.3,619360,C5680155,,,,PLG-related hereditary angioedema with normal C1Inh,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
32960,Tumor necrosis factor receptor 1 associated periodic syndrome,Disease,Disorder,4A60.2,0007727,E85.0,142680,C1275126,,10067774,8457,Tumor necrosis factor receptor 1 associated periodic syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
52662,Rare teratologic disease,Category,Group of disorders,,,,,C5680156,,,,,,
52530,Pseudo-von Willebrand disease,Disease,Disorder,3B62.Y,0008332,D69.8,177820,C1280798,C536458,,8312,Pseudo-von Willebrand disease,Adult,Autosomal dominant
52688,Myelodysplastic syndrome,Clinical group,Group of disorders,,0018881,,614286,C3463824,D009190,10028532,7132,Myelodysplastic syndrome,All ages,
52429,Branchiootic syndrome,Malformation syndrome,Disorder,LD2F.1Y,0018878,Q87.0,608389,C4273131,C537104,,10148,Branchiootic syndrome,Neonatal,Autosomal dominant
537891,OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh,Etiological subtype,Subtype of disorder,,,,,,,,,,,
52428,Congenital muscular dystrophy type 1C,Disease,Disorder,,,,,C1847759,,,,,,
538096,Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,Disease,Disorder,,0011463,G60.0,604431,C1858353,C565773,,,Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,Antenatal,Autosomal recessive
52503,X-linked creatine transporter deficiency,Disease,Disorder,5C53.4,0010305,E72.8,300352,C1845862,C535598,,1608,X-linked creatine transporter deficiency,"Childhood, Infancy","Not applicable, X-linked recessive"
538101,Congenital axonal neuropathy with encephalopathy,Disease,Disorder,,0034041,G60.0,,C5681314,,,,Congenital axonal neuropathy with encephalopathy,Neonatal,
538238,Neurological channelopathy of the central nervous system due to a genetic chloride channel defect,Category,Group of disorders,,,,,C5681315,,,,,,
52430,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,Disease,Disorder,4A41.21,0000507,G71.8,615424,C1833662,C563476,,10899,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,Adult,Autosomal dominant
52416,Mantle cell lymphoma,Disease,Disorder,2A85.5,0018876,C83.1,,C4721414,D020522,10061275,6969,Mantle cell lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
52427,Retinitis punctata albescens,Disease,Disorder,9B70,0018877,H35.5,136880,C1405854,,,,Retinitis punctata albescens,Childhood,"Autosomal dominant, Autosomal recessive"
52417,MALT lymphoma,Disease,Disorder,,0007650,C88.4,137245,C1850900,,10060707,6485,MALT lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
52056,Ulnar/fibula ray defect-brachydactyly syndrome,Malformation syndrome,Disorder,,0012063,Q73.8,608571,C4304397,,,,Ulnar/fibula ray defect-brachydactyly syndrome,"Infancy, Neonatal",Autosomal dominant
52055,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,Malformation syndrome,Disorder,,0010333,Q87.8,300472,C4302679,,,12486,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,"Infancy, Neonatal",X-linked recessive
52368,Mohr-Tranebjaerg syndrome,Disease,Disorder,8A02.12,0010578,E88.8,304700,C0796074,C535808,,8331,Mohr-Tranebjaerg syndrome,Childhood,X-linked recessive
52183,Premature chromosome condensation with microcephaly and intellectual disability,Malformation syndrome,Disorder,,,,,,,,,,,
53271,Muenke syndrome,Malformation syndrome,Disorder,LD24.GY,0011274,Q87.0,602849,C1864436,C537369,10088781,7097,Muenke syndrome,"Antenatal, Neonatal",Autosomal dominant
53296,Familial cutaneous collagenoma,Disease,Disorder,LC2Y,0007271,L94.8,115250,C0406817,C562925,,9799,Familial cutaneous collagenoma,Adolescent,Autosomal dominant
53347,Brody myopathy,Disease,Disorder,8C7Y,0010977,G71.8,601003,C1832918,C536607,,9158,Brody myopathy,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive"
52994,Orbital leiomyoma,Disease,Disorder,2F36.Y,0018885,D31.6,,C4305000,,,,Orbital leiomyoma,Adult,Unknown
53035,Caroli disease,Malformation syndrome,Disorder,LB20.00,0010913,Q44.6,600643,C0162510,D016767,10013003,6002,Caroli disease,All ages,"Autosomal recessive, Not applicable"
52759,Vasculitis,Category,Group of disorders,4A44,0018882,,,C0042384,D014657,10047115,,,,
52901,Isolated follicle stimulating hormone deficiency,Disease,Disorder,5A61.0,0009239,E23.6,229070,C1856716,C537070,,10128,Isolated follicle stimulating hormone deficiency,"Adolescent, Adult",Autosomal recessive
53690,Congenital lactase deficiency,Disease,Disorder,5C61.61,0009115,E73.0,223000,C0268179,C562600,10086148,,Congenital lactase deficiency,,Autosomal recessive
53689,Congenital chloride diarrhea,Disease,Disorder,DA90.1,0008964,P78.3,214700,C0267662,C536210,,10001,Congenital chloride diarrhea,"Infancy, Neonatal",Autosomal recessive
538863,Classic pyoderma gangrenosum,Clinical subtype,Subtype of disorder,EB21,0035235,L88,,C5680157,,,,Classic pyoderma gangrenosum,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
538756,Familial multiple discoid fibromas,Disease,Disorder,,0008594,D23.9,190340,C1860850,C536847,,8479,Familial multiple discoid fibromas,"Adolescent, Adult, Childhood, Infancy, Neonatal",
538574,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,Disease,Disorder,,0007853,G60.0,148360,C1835671,,,,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,"Childhood, Infancy, Neonatal",
53583,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,Disease,Disorder,8A02.2,0010983,G24.8,601042,C1832855,C563401,,,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,Childhood,Autosomal dominant
53540,Goldmann-Favre syndrome,Disease,Disorder,9B70,0100289,H35.5,268100,C0339541,C564835,,10781,Goldmann-Favre syndrome,"Adolescent, Childhood",Autosomal recessive
53372,Hereditary geniospasm,Disease,Disorder,,0008588,G25.3,190100,C2931589,C537682,,9501,Hereditary geniospasm,Childhood,Autosomal dominant
53351,X-linked dystonia-parkinsonism,Disease,Disorder,8A00.20,0010747,G24.1,314250,C1839130,C564048,,10533,X-linked dystonia-parkinsonism,Adult,"Not applicable, X-linked recessive"
54260,Left ventricular noncompaction,Disease,Disorder,BC44,0018901,I42.8,615092,C1960469,,,10985,Left ventricular noncompaction,All ages,"Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive"
54247,Posterior cortical atrophy,Disease,Disorder,8A21.0,0018899,G31.1,,C4275079,,10078207,,Posterior cortical atrophy,Adult,Unknown
538934,X-linked lymphoproliferative disease due to XIAP deficiency,Disease,Disorder,4A01.22,0010385,D82.3,300635,C1845076,C564469,,10916,X-linked lymphoproliferative disease due to XIAP deficiency,"Adolescent, Adult, Childhood, Infancy",X-linked recessive
54251,Aseptic abscess syndrome,Disease,Disorder,,0018900,D89.8,,C4303863,,,10946,Aseptic abscess syndrome,"Adolescent, Adult",Not applicable
538931,X-linked lymphoproliferative disease due to SAP deficiency,Disease,Disorder,4A01.22,0024551,D82.3,308240,C5399825,,,,X-linked lymphoproliferative disease due to SAP deficiency,"Adolescent, Adult, Childhood, Infancy",X-linked recessive
54057,Thrombotic thrombocytopenic purpura,Disease,Disorder,3B64.14,0018896,M31.1,274150,C0034155,D011697,10043648,,Thrombotic thrombocytopenic purpura,All ages,"Autosomal recessive, Multigenic/multifactorial"
54238,Myotonic dystrophy type 3,Disease,Disorder,,,,,,,,,,,
53739,Distal hereditary motor neuropathy,Clinical group,Group of disorders,,0018894,,,C0393541,,,,,,
54028,Plummer-Vinson syndrome,Disease,Disorder,3A00.Y,0018895,D50.1,,C0032249,D011004,10040664,8259,Plummer-Vinson syndrome,Adult,Unknown
53719,OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2,Clinical subtype,Subtype of disorder,,,,,,,,,,,
53721,Spinal arteriovenous metameric syndrome,Malformation syndrome,Disorder,LA90.3Y,0018893,Q27.3,,C0346068,,10068841,11892,Spinal arteriovenous metameric syndrome,All ages,Not applicable
53698,Myosin storage myopathy,Disease,Disorder,8C72.0Y,0018889,G71.2,608358,C1842160,C564253,,7148,Myosin storage myopathy,,"Autosomal dominant, Autosomal recessive"
53715,Familial tumoral calcinosis,Disease,Disorder,5C64.5,0018891,M11.2,610455,C0263628,,10059364,10877,Familial tumoral calcinosis,Childhood,Autosomal recessive
53696,Arthrogryposis-anterior horn cell disease syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012750,Q68.8,611890,C2678471,,,,Arthrogryposis-anterior horn cell disease syndrome,Antenatal,Autosomal recessive
538872,Vegetative pyoderma gangrenosum,Clinical subtype,Subtype of disorder,EB21,0035238,L88,,C5680158,,,,Vegetative pyoderma gangrenosum,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
53697,Gnathodiaphyseal dysplasia,Malformation syndrome,Disorder,LD24.2Y,0008151,M85.8,166260,C1833736,,,8698,Gnathodiaphyseal dysplasia,"Adolescent, Childhood, Infancy",Autosomal dominant
53691,Congenital cornea plana,Morphological anomaly,Disorder,LA11.1,0018888,Q13.4,217300,C0344529,,,,Congenital cornea plana,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
538869,Bullous pyoderma gangrenosum,Clinical subtype,Subtype of disorder,EB21,0035237,L88,,C0406687,,,,Bullous pyoderma gangrenosum,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
538866,Pustular pyoderma gangrenosum,Clinical subtype,Subtype of disorder,EB21,0035236,L88,,C5681317,,,,Pustular pyoderma gangrenosum,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
53693,GRACILE syndrome,Disease,Disorder,5C53.2Y,0011308,E88.8,603358,C1864002,C537934,10081684,1,GRACILE syndrome,"Antenatal, Neonatal",Autosomal recessive
48818,Aceruloplasminemia,Disease,Disorder,3A00.Y,0011426,E83.1,604290,C0878682,C536004,,9499,Aceruloplasminemia,"Adult, Elderly",Autosomal recessive
48736,Embryonal carcinoma of the central nervous system,Clinical subtype,Subtype of disorder,,0018843,C71.9,,C1333377,,,,,,
49041,IgG4-related retroperitoneal fibrosis,Clinical subtype,Subtype of disorder,4A43.0,0018848,K66.2,228800,C0035357,D012185,10038979,9568,IgG4-related retroperitoneal fibrosis,Adult,"Not applicable, Unknown"
48918,Focal myositis,Disease,Disorder,4A41.Y,0018845,M60.8,,C0751357,,10081943,,Focal myositis,Adult,Not applicable
49382,Achromatopsia,Disease,Disorder,9B70,0018852,H53.5,616517,C0152200,,10000454,,Achromatopsia,"Infancy, Neonatal",Autosomal recessive
49042,Dentinogenesis imperfecta,Disease,Disorder,LA30.8,0018849,K00.5,,C0011436,D003811,10054013,6258,Dentinogenesis imperfecta,Childhood,Autosomal dominant
538958,EBV-induced lymphoproliferative disease due to CD70 deficiency,Disease,Disorder,,34054,D82.3,618261,C5568559,,,,EBV-induced lymphoproliferative disease due to CD70 deficiency,"Childhood, Infancy",Autosomal recessive
48431,Congenital cataracts-facial dysmorphism-neuropathy syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011402,Q87.8,604168,C1858726,C565822,,,Congenital cataracts-facial dysmorphism-neuropathy syndrome,"Infancy, Neonatal",Autosomal recessive
538963,Combined immunodeficiency due to ITK deficiency,Disease,Disorder,,0013081,D82.3,613011,C3552634,,,,Combined immunodeficiency due to ITK deficiency,"Adolescent, Childhood",Autosomal recessive
48471,Lissencephaly,Category,Group of disorders,,0018838,,,C0266463,D054082,10048911,12291,Lissencephaly,"Infancy, Neonatal",
48435,Postinfectious vasculitis,Disease,Disorder,4A44.Y,0018837,I77.6,,C4510302,,,,Postinfectious vasculitis,All ages,Not applicable
48686,Primary effusion lymphoma,Disease,Disorder,2A81.9,0018842,C83.8,,C1292753,D054685,10065857,9247,Primary effusion lymphoma,Adult,
48652,Phelan-McDermid syndrome,Malformation syndrome,Disorder,LD44.NY,,Q93.5,606232,,C536801,10082417,10130,Phelan-McDermid syndrome,"Infancy, Neonatal","Not applicable, Unknown"
50809,Talo-patello-scaphoid osteolysis,Malformation syndrome,Disorder,FB86.2,0012330,M89.5,609655,C4509954,,,10061,Talo-patello-scaphoid osteolysis,Childhood,Autosomal recessive
50810,Microlissencephaly-micromelia syndrome,Malformation syndrome,Disorder,,0018860,Q04.3,,C4509878,,,,Microlissencephaly-micromelia syndrome,"Infancy, Neonatal",Autosomal recessive
50811,Lipodystrophy-intellectual disability-deafness syndrome,Disease,Disorder,LD2H.Y,0011976,Q78.8,608154,C4302920,,,,Lipodystrophy-intellectual disability-deafness syndrome,Childhood,Autosomal recessive
50812,Zellweger-like syndrome without peroxisomal anomalies,Disease,Disorder,5C53.2Y,0018861,Q87.8,,C4305104,,,,Zellweger-like syndrome without peroxisomal anomalies,Childhood,"Autosomal recessive, Mitochondrial inheritance"
50814,Craniolenticulosutural dysplasia,Malformation syndrome,Disorder,LB70.Y,0011911,Q75.8,607812,C1843042,C564332,,,Craniolenticulosutural dysplasia,"Infancy, Neonatal",Autosomal recessive
50815,Branchiogenic deafness syndrome,Malformation syndrome,Disorder,,0012209,Q87.0,609166,C1836673,C563780,,,Branchiogenic deafness syndrome,"Antenatal, Neonatal",Autosomal dominant
50816,Spondylometaphyseal dysplasia with combined immunodeficiency,Disease,Disorder,,,,,C1842763,,,,,,
49566,Acquired purpura fulminans,Disease,Disorder,3B20,0018854,D65,,C4510896,,10037556,,Acquired purpura fulminans,"Adult, Childhood, Infancy, Neonatal",Not applicable
49804,Lichen amyloidosis,Disease,Disorder,5D00.0,0018856,L99.0*,,C5779561,,,,Lichen amyloidosis,"Adolescent, Adult",
49827,Thiamine-responsive megaloblastic anemia syndrome,Disease,Disorder,5C63.Y,0009575,D53.1,249270,C0342287,C536510,,9210,Thiamine-responsive megaloblastic anemia syndrome,Childhood,Autosomal recessive
50251,Pleural mesothelioma,Disease,Disorder,2C26.0,0006292,C45.0,156240,C1377913,D008654,10035603,7026,Pleural mesothelioma,All ages,Not applicable
50945,Blomstrand lethal chondrodysplasia,Malformation syndrome,Disorder,LD24.1Y,0008970,Q78.8,215045,C1859148,C537914,,914,Blomstrand lethal chondrodysplasia,"Antenatal, Neonatal",Autosomal recessive
50944,Schöpf-Schulz-Passarge syndrome,Disease,Disorder,LD27.0Y,0009145,Q82.8,224750,C1857069,C565607,,,Schöpf-Schulz-Passarge syndrome,"Adolescent, Childhood","Autosomal dominant, Autosomal recessive"
51084,Torsade-de-pointes syndrome with short coupling interval,Disease,Disorder,BC71.01,0013317,I49.8,613600,C3150851,,,,,,
51083,Congenital short QT syndrome,Disease,Disorder,BC65.2,,I49.8,620231,C2348199,,,,Congenital short QT syndrome,All ages,Autosomal dominant
51013,OBSOLETE: Melanoma-pancreatic cancer syndrome,Disease,Disorder,,,,,,,,,,,
50839,Cat-scratch disease,Disease,Disorder,1B98,0005692,A28.1,,C0007361,D002372,10007729,27,Cat-scratch disease,All ages,Not applicable
50838,NON RARE IN EUROPE: Carpal tunnel syndrome,Disease,Disorder,,,G56.0,,,,,,,,
50817,Duane anomaly-myopathy-scoliosis syndrome,Disease,Disorder,,0033672,,,C4302550,,,,,,
50943,Keratolytic winter erythema,Disease,Disorder,EC20.30,0007854,L30.8,148370,C0406756,C536155,,8275,Keratolytic winter erythema,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
50942,Striate palmoplantar keratoderma,Disease,Disorder,EC20.31,0018865,Q82.8,612908,C4707237,,,,Striate palmoplantar keratoderma,"Infancy, Neonatal",Autosomal dominant
50920,OBSOLETE: Multiple fibroadenoma of the breast,Disease,Disorder,,,,,,,,,,,
50918,Kikuchi-Fujimoto disease,Disease,Disorder,4B2Y,0018864,I88.1,,C0398367,D020042,10069070,6834,Kikuchi-Fujimoto disease,"Adolescent, Adult, Childhood, Infancy",
52054,Craniosynostosis-intracranial calcifications syndrome,Malformation syndrome,Disorder,,0012035,Q87.0,608432,C4303809,,,,Craniosynostosis-intracranial calcifications syndrome,"Infancy, Neonatal",Autosomal recessive
52022,Potocki-Shaffer syndrome,Malformation syndrome,Disorder,LD44.B1,0011022,Q93.5,601224,C1832588,C538356,,9762,Potocki-Shaffer syndrome,"Infancy, Neonatal",Unknown
52047,Braddock syndrome,Malformation syndrome,Disorder,,0012032,Q87.8,608406,C4303988,,,,Braddock syndrome,Neonatal,Autosomal recessive
51577,Cobblestone lissencephaly,Clinical group,Group of disorders,LD20.1,0018869,,,C0431376,D054222,,3277,Cobblestone lissencephaly,"Infancy, Neonatal",Autosomal recessive
51608,Generalized arterial calcification of infancy,Disease,Disorder,BD52,0018870,Q28.8,614473,C1859727,C537440,,8380,Generalized arterial calcification of infancy,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
51188,Ethylmalonic encephalopathy,Disease,Disorder,5C50.E1,0011229,E88.8,602473,C1865349,C535737,,2198,Ethylmalonic encephalopathy,"Infancy, Neonatal",Autosomal recessive
541423,Growth delay-intellectual disability-hepatopathy syndrome,Disease,Disorder,,0014911,K76.8,617093,C5568558,,,,Growth delay-intellectual disability-hepatopathy syndrome,"Infancy, Neonatal",Autosomal recessive
51208,Formiminoglutamic aciduria,Disease,Disorder,3A02.Y,0009240,E70.8,229100,C0268609,C537425,,9279,Formiminoglutamic aciduria,Childhood,Autosomal recessive
541507,Anomalous origin of coronary artery from the pulmonary artery,Morphological anomaly,Disorder,LA8C.0,0035252,Q24.5,,C4023252,,,,,,
541478,Anomalous aortic origin of coronary artery,Clinical group,Group of disorders,,,,,C5680159,,,,,,
51636,WHIM syndrome,Disease,Disorder,4A00.Y,8000006,D81.8,193670,C0472817,C536697,,9297,WHIM syndrome,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive, Not applicable"
541454,Anomalous aortic origin of the right coronary artery,Morphological anomaly,Disorder,LA8C.1,0035250,Q24.5,,C3532025,,,,,,
51890,Anterior cutaneous nerve entrapment syndrome,Disease,Disorder,8E43.Y,0018873,G58.0,,C0393899,,,,Anterior cutaneous nerve entrapment syndrome,All ages,Not applicable
541443,Anomalous aortic origin of the left coronary artery,Morphological anomaly,Disorder,LA8C.1,0035249,Q24.5,,C3532026,,,,,,
542306,GNB5-related intellectual disability-cardiac arrhythmia syndrome,Disease,Disorder,BC65.Y,0014953,I49.8,617182,C5568877,,,,GNB5-related intellectual disability-cardiac arrhythmia syndrome,"Childhood, Infancy",Autosomal recessive
542301,EBV-induced lymphoproliferative disease due to CARMIL2 deficiency,Disease,Disorder,,29134,D82.3,618131,C5568557,,,,EBV-induced lymphoproliferative disease due to CARMIL2 deficiency,Childhood,Autosomal recessive
542310,Leukoencephalopathy with calcifications and cysts,Disease,Disorder,,0013803,I67.8,614561,C3281200,C000598644,10084766,10732,Leukoencephalopathy with calcifications and cysts,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
68419,Rare vascular anomaly,Category,Group of disorders,,,,,C5925045,,,,,,
42642,PFAPA syndrome,Disease,Disorder,DA01.10,0018540,E85.0,,C4082167,,10070594,5657,PFAPA syndrome,"Childhood, Infancy",Unknown
42665,Tietz syndrome,Malformation syndrome,Disorder,EC23.2Y,0007077,E70.3,103500,C0391816,C536919,,7772,Tietz syndrome,Neonatal,Autosomal dominant
542323,CAR T cell therapy-associated cytokine release syndrome,Particular clinical situation in a disease or syndrome,Disorder,4A4Y,,D89.8,,C5680162,,,,CAR T cell therapy-associated cytokine release syndrome,Adult,
43117,Acute tricyclic antidepressant poisoning,Particular clinical situation in a disease or syndrome,Disorder,NE60,0018547,T43.0,,C5681319,,,,Acute tricyclic antidepressant poisoning,All ages,Not applicable
542585,Auditory neuropathy-optic atrophy syndrome,Disease,Disorder,,0060582,E88.8,617717,C4521678,,,,Auditory neuropathy-optic atrophy syndrome,"Adolescent, Childhood, Infancy",Autosomal recessive
43116,Serotonin syndrome,Disease,Disorder,8D85,0018546,T43.1,,C0699828,D020230,10040108,,Serotonin syndrome,All ages,Not applicable
542592,Necrobiosis lipoidica,Disease,Disorder,EE80.1,0006583,L92.1,,C0027538,D009335,,13040,Necrobiosis lipoidica,"Adolescent, Adult, Childhood, Elderly",
43393,Lambert-Eaton myasthenic syndrome,Disease,Disorder,8C62,0018556,G73.1,,C0022972,D015624,10067685,6851,Lambert-Eaton myasthenic syndrome,Adult,Not applicable
43119,Acute poisoning by drugs with membrane-stabilizing effect,Particular clinical situation in a disease or syndrome,Disorder,NE60,0018548,X44,,C5681320,,,,Acute poisoning by drugs with membrane-stabilizing effect,All ages,Not applicable
542643,Livedoid vasculopathy,Clinical syndrome,Disorder,EF50,0025514,L95.0,,C0343081,D000090122,10067527,12784,Livedoid vasculopathy,"Adolescent, Adult",
42775,PHACE syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011676,Q28.8,606519,C3698479,,10068032,8338,PHACE syndrome,"Antenatal, Infancy, Neonatal",Unknown
42738,Severe congenital neutropenia,Clinical group,Group of disorders,,0018542,,,C1853118,,10052210,13592,Severe congenital neutropenia,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
43115,Hereditary myopathy with lactic acidosis due to ISCU deficiency,Disease,Disorder,5C53.1,0009706,G71.3,255125,C1850718,C564972,,,Hereditary myopathy with lactic acidosis due to ISCU deficiency,Childhood,Autosomal recessive
542568,Quadricuspid aortic valve,Morphological anomaly,Disorder,LA8A.2Y,0035267,Q23.8,,C0345002,D000082902,,,,,
45448,Miyoshi myopathy,Disease,Disorder,8C75,0009685,G71.0,613318,C5553104,C537480,,9676,Miyoshi myopathy,Adult,Autosomal recessive
543470,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,Disease,Disorder,,0034092,E88.8,620887,C5681321,,,,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,"Adolescent, Childhood, Infancy",Autosomal recessive
45453,Incessant infant ventricular tachycardia,Disease,Disorder,BC71.0Y,0018685,I47.2,,C0340487,,,,Incessant infant ventricular tachycardia,"Childhood, Infancy",Not applicable
45452,Idiopathic neonatal atrial flutter,Disease,Disorder,BC81.20,0018684,P29.1,,C4275090,,,,Idiopathic neonatal atrial flutter,"Infancy, Neonatal",Not applicable
542657,Isolated hyperchlorhidrosis,Disease,Disorder,,0007747,L98.8,143860,C1840437,,,,Isolated hyperchlorhidrosis,Infancy,Autosomal recessive
542822,Anomaly of the coronary ostia,Clinical group,Group of disorders,,,,,C5681322,,,,,,
44890,Gastrointestinal stromal tumor,Disease,Disorder,XH9HQ1,0011719,C26.9,606764,C0238198,D046152,10051066,8598,Gastrointestinal stromal tumor,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
45360,NON RARE IN EUROPE: Menière disease,Disease,Disorder,,,H81.0,,,,,,,,
45358,Congenital fibrosis of extraocular muscles,Disease,Disorder,9C82.2,0007614,H49.8,609612,C1302995,C580012,,12590,Congenital fibrosis of extraocular muscles,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable"
46487,Epidermolysis bullosa acquisita,Disease,Disorder,EB43,0018747,L12.3,,C0079293,D016107,10056508,6360,Epidermolysis bullosa acquisita,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
544254,SYNGAP1-related developmental and epileptic encephalopathy,Disease,Disorder,LD90.Y,0034099,G40.4,612621,C5680163,,,,SYNGAP1-related developmental and epileptic encephalopathy,Infancy,Autosomal dominant
46488,Linear IgA dermatosis,Disease,Disorder,EB42,0018748,L10.8,,C0406650,D062027,10024515,,Linear IgA dermatosis,All ages,Not applicable
46485,Superficial pemphigus,Clinical group,Group of disorders,,,,,C5681323,,,,Superficial pemphigus,All ages,Not applicable
46486,Mucous membrane pemphigoid,Disease,Disorder,EB41.1,0018746,L12.1,164185,C0030804,,10057052,5913,Mucous membrane pemphigoid,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
46348,Paroxysmal extreme pain disorder,Disease,Disorder,8E43.Y,0008179,G90.8,167400,C1833661,C563475,10081856,12854,Paroxysmal extreme pain disorder,"Infancy, Neonatal",Autosomal dominant
46484,Oligodendroglial tumor,Clinical group,Group of disorders,,0018744,,,C1335110,,,13156,Oligodendroglial tumor,Adult,"Multigenic/multifactorial, Not applicable"
46059,Lathosterolosis,Disease,Disorder,5C52.10,0011816,Q87.8,607330,C1846421,C537880,,9711,Lathosterolosis,Neonatal,Autosomal recessive
46135,Primary central nervous system lymphoma,Disease,Disorder,2A8Z,0002571,C83.3,,C0280803,,10036685,9318,Primary central nervous system lymphoma,"Adult, Elderly",Not applicable
544458,Hemolytic uremic syndrome,Clinical group,Group of disorders,,0001549,,,C0019061,D006463,10018932,,,,
47044,Hereditary papillary renal cell carcinoma,Disease,Disorder,2C90.Y,0003789,C64,605074,C0879257,C538614,10067943,,Hereditary papillary renal cell carcinoma,Adult,Autosomal dominant
46724,Brain arteriovenous malformation,Morphological anomaly,Disorder,8B22.40,0007154,Q28.2,108010,C0917804,D002538,10056371,3020,Brain arteriovenous malformation,All ages,No data available
46627,Char syndrome,Malformation syndrome,Disorder,,0008209,Q87.8,169100,C1868570,C566815,,1237,Char syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
46658,Primordial short stature-microdontia-opalescent and rootless teeth syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
46489,OBSOLETE: Bullous systemic lupus erythematosus,Disease,Disorder,,,,,,,,,,,
46532,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,Disease,Disorder,3A50.4,0018749,D56.4,613566,C0271994,,,,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,Childhood,Autosomal dominant
48372,Nodular regenerative hyperplasia of the liver,Histopathological subtype,Subtype of disorder,DB98.2,0018835,K76.8,,C5779783,,,10929,Nodular regenerative hyperplasia of the liver,Adult,Not applicable
48162,Lewis-Sumner syndrome,Clinical subtype,Subtype of disorder,8C01.3,0018826,G61.8,,C1695985,,10065580,13070,Lewis-Sumner syndrome,All ages,Not applicable
544493,Streptococcus pneumoniae-associated hemolytic uremic syndrome,Clinical subtype,Subtype of disorder,,0035293,D58.8,,C5680164,,,,Streptococcus pneumoniae-associated hemolytic uremic syndrome,All ages,
48104,Pyoderma gangrenosum,Disease,Disorder,EB21,0018824,L88,,C0085652,D017511,10037635,7510,Pyoderma gangrenosum,"Adolescent, Adult, Childhood, Elderly",Unknown
544503,RNF13-related severe early-onset epileptic encephalopathy,Disease,Disorder,,0034106,G40.4,618379,C5193065,,,,RNF13-related severe early-onset epileptic encephalopathy,Neonatal,Autosomal dominant
47612,Felty syndrome,Disease,Disorder,FA20.0,0007603,M05.0,134750,C0015773,D005258,10016386,8234,Felty syndrome,Adult,Unknown
544482,Infection-related hemolytic uremic syndrome,Disease,Disorder,3A21.Y,0034103,D59.3,,C5680165,,,,Infection-related hemolytic uremic syndrome,All ages,Not applicable
47159,Proximal renal tubular acidosis,Disease,Disorder,GB90.44,0008369,N25.8,604278,C0268435,,10037080,,Proximal renal tubular acidosis,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
544488,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,Disease,Disorder,,0033642,E72.4,619075,C5436741,,,,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,"Antenatal, Neonatal",Autosomal dominant
544469,PRUNE1-related neurological syndrome,Malformation syndrome,Disorder,,0060490,Q07.8,617481,C4479566,,,,PRUNE1-related neurological syndrome,"Infancy, Neonatal",Autosomal recessive
544472,Atypical hemolytic uremic syndrome with complement gene abnormality,Etiological subtype,Subtype of disorder,,0035290,D58.8,615008,C5680166,,,,Atypical hemolytic uremic syndrome with complement gene abnormality,All ages,
47045,Familial cold urticaria,Disease,Disorder,4A60.1,0018768,L50.2,120100,C0343068,,10064570,9535,Familial cold urticaria,"Adolescent, Childhood, Infancy",Autosomal dominant
544628,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,Disease,Disorder,GB90.42,0034110,E34.8,616026,C5681324,,,,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,Neonatal,Autosomal dominant
544590,Collagen-related glomerular basement membrane disease,Category,Group of disorders,,,,,C5681325,,,,,,
544602,Congenital myopathy with reduced type 2 muscle fibers,Disease,Disorder,,0034109,G71.2,618414,C5193081,,,,Congenital myopathy with reduced type 2 muscle fibers,"Antenatal, Neonatal",Autosomal recessive
48377,Subcorneal pustular dermatosis,Disease,Disorder,EB2Y,0006614,L13.1,,C0600336,,10042342,13606,Subcorneal pustular dermatosis,Adult,Not applicable
544578,"Congenital primary megaureter, refluxing and obstructed form",Clinical subtype,Subtype of disorder,,0035295,Q62.2,,C5681326,,,,"Congenital primary megaureter, refluxing and obstructed form","Infancy, Neonatal",
68361,Rare deafness,Category,Group of disorders,,,,,C5680167,,,,,,
68362,Rare vascular disease,Category,Group of disorders,,,,,C5681327,,,,,,
68363,Rare dystonia,Category,Group of disorders,,,,,C5680168,,,,,,
555402,NAD(P)HX dehydratase deficiency,Disease,Disorder,,0034121,E88.8,618321,C5193026,,,,NAD(P)HX dehydratase deficiency,"Childhood, Infancy",Autosomal recessive
68364,Hemoglobinopathy,Category,Group of disorders,,,,,C0019045,D006453,10060892,,,,
555434,Fibrohistiocytic inflammatory pseudotumor of the liver,Clinical subtype,Subtype of disorder,,0035312,K75.8,,C5681328,,,,Fibrohistiocytic inflammatory pseudotumor of the liver,"Adult, Elderly",
555407,NAD(P)HX epimerase deficiency,Disease,Disorder,,0020781,E88.8,617186,C4310675,,,,NAD(P)HX epimerase deficiency,Infancy,Autosomal recessive
68366,Lysosomal disease,Category,Group of disorders,5C56,,,,C5681329,,,,,,
68367,Rare inborn errors of metabolism,Category,Group of disorders,,,,,C5680169,,,,,,
555437,Lymphoplasmacytic inflammatory pseudotumor of the liver,Clinical subtype,Subtype of disorder,,0035313,K75.8,,C5680170,,,,Lymphoplasmacytic inflammatory pseudotumor of the liver,"Adult, Elderly",
68373,Peroxisomal disease,Category,Group of disorders,5C57,0019053,,,C0282528,D018901,,,,,
555874,Congenital tricuspid valve dysplasia,Morphological anomaly,Disorder,LA87.02,0035314,Q22.8,,C4255215,,,,Congenital tricuspid valve dysplasia,"Antenatal, Neonatal",
68378,Congenital limb malformation,Category,Group of disorders,,0019054,,,,,,,,,
555877,FLNA-related X-linked myxomatous valvular dysplasia,Morphological anomaly,Disorder,LA8Y,0010753,Q23.8,314400,C0262436,,,1096,FLNA-related X-linked myxomatous valvular dysplasia,Neonatal,X-linked recessive
68381,Neuromuscular disease,Category,Group of disorders,,0019056,,,C0027868,D009468,10029323,,,,
555905,IgA pemphigus,Disease,Disorder,EB40.Y,0034127,L10.8,,C1274167,,,,IgA pemphigus,All ages,
68380,Mitochondrial disease,Category,Group of disorders,,0004069,,,C0751651,D028361,,,,,
68383,Rare constitutional aplastic anemia,Category,Group of disorders,,,D61.0,,C5681331,,,,,,
556030,Early-onset familial hypoaldosteronism,Clinical subtype,Subtype of disorder,5A73,0035320,E27.4,,C5680171,,,,Early-onset familial hypoaldosteronism,"Adolescent, Childhood, Infancy, Neonatal",Autosomal recessive
68385,Neurometabolic disease,Category,Group of disorders,,,,,C5681332,,,,,,
556037,Late-onset familial hypoaldosteronism,Clinical subtype,Subtype of disorder,5A73,0035321,E27.4,,C5680172,,,,Late-onset familial hypoaldosteronism,"Adult, Elderly",
68388,OBSOLETE: Neurofibromatosis,Category,Group of disorders,,,,,,,,,,,
556985,Early-onset calcifying leukoencephalopathy-skeletal dysplasia,Disease,Disorder,,0034143,G93.4,618476,C5681333,,,,Early-onset calcifying leukoencephalopathy-skeletal dysplasia,"Adolescent, Antenatal, Childhood",Autosomal recessive
556955,Pancreatic agenesis-holoprosencephaly syndrome,Disease,Disorder,,0034142,Q87.8,618500,C5681334,,,,Pancreatic agenesis-holoprosencephaly syndrome,Antenatal,Autosomal dominant
556508,Rare disorder due to poisoning,Category,Group of disorders,,,,,C5681335,,,,,,
68402,Rare parkinsonian disorder,Category,Group of disorders,,,,,C5680173,,,,,,
557064,Neonatal epileptic encephalopathy due to glutaminase deficiency,Disease,Disorder,,0032678,E88.8,618328,C5193030,,,,Neonatal epileptic encephalopathy due to glutaminase deficiency,Neonatal,Autosomal recessive
557056,Spastic ataxia-dysarthria due to glutaminase deficiency,Disease,Disorder,,0034146,E88.8,618412,C5681336,,,,Spastic ataxia-dysarthria due to glutaminase deficiency,Childhood,Autosomal dominant
557003,Oculoskeletodental syndrome,Disease,Disorder,,0034145,Q87.8,618440,C5193101,,,,Oculoskeletodental syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
68411,Rare bone tumor,Category,Group of disorders,,,,,C5681337,,,,,,
68416,Rare infectious disease,Category,Group of disorders,,,,,C5681338,,,,,,
68415,Rare parathyroid disease and phosphocalcic metabolism anomaly,Category,Group of disorders,,,,,C5681339,,,,,,
90065,Acquired aneurysmal subarachnoid hemorrhage,Particular clinical situation in a disease or syndrome,Disorder,8B01.0,0019543,I60.9,,C0338572,,,,Acquired aneurysmal subarachnoid hemorrhage,All ages,Not applicable
519392,Isolated iridoschisis,Disease,Disorder,LA11.61,0033810,H21.2,,C0154919,,,,,,
90066,Pneumonia caused by Pseudomonas aeruginosa infection,Particular clinical situation in a disease or syndrome,Disorder,CA40.05,0037398,J15.1,,C0920182,,,13613,Pneumonia caused by Pseudomonas aeruginosa infection,All ages,Not applicable
519390,Isolated blepharochalasis,Disease,Disorder,9A06.8,0033809,H02.3,,C5681341,,,,,,
519396,Isolated microspherophakia,Morphological anomaly,Disorder,LA12.3,0034977,Q12.4,,C5681342,,,,,,
90068,Cocaine intoxication,Disease,Disorder,6C45.3,0019544,T40.5,,C0009176,,,,Cocaine intoxication,All ages,Not applicable
519394,OBSOLETE: Isolated microphakia,Morphological anomaly,Disorder,,,,,,,,,,,
90061,Non-infectious posterior uveitis,Category,Group of disorders,9B65.0,,H30.1,,C5396634,,,,,,
519384,Congenital cystic eye,Morphological anomaly,Disorder,LA10.Y,0022825,Q11.0,,C0158543,,10011761,10617,Congenital cystic eye,Antenatal,
519357,OBSOLETE: Syndromic malformation of the optic disc,Category,Group of disorders,,,,,,,,,,,
90062,Acute liver failure,Clinical syndrome,Disorder,DB91.1,0019542,K72.0,,C0162557,D017114,10000804,,Acute liver failure,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
519388,Autosomal recessive anterior segment dysgenesis,Malformation syndrome,Disorder,LA11.2,0015017,Q13.8,617319,C4310622,,,,Autosomal recessive anterior segment dysgenesis,"Adolescent, Adult, Childhood",Autosomal recessive
90064,Acute peripheral arterial occlusion,Particular clinical situation in a disease or syndrome,Disorder,BD30,,I74.4,,C5681343,,,,Acute peripheral arterial occlusion,All ages,Not applicable
519386,Isolated congenital entropion,Morphological anomaly,Disorder,LA14.02,0034971,Q10.2,,C0266579,,10014923,,,,
90073,Hepatitis B reinfection following liver transplantation,Particular clinical situation in a disease or syndrome,Disorder,1E51.0Y,,B18.0,,C5681345,,,,Hepatitis B reinfection following liver transplantation,All ages,Not applicable
519408,Mooren ulcer,Disease,Disorder,9A76,0001032,H16.0,,C0155072,,,,,,
519406,Thygeson superficial punctate keratitis,Disease,Disorder,9A78.Z,0033816,H16.1,,C4551636,,,,,,
519410,Terrien marginal degeneration,Disease,Disorder,9A78.4,0033818,H18.4,,C0271283,,10043286,,,,
90076,Partial deep dermal and full thickness burns,Particular clinical situation in a disease or syndrome,Disorder,,,T30.3,,C0433405,,,,Partial deep dermal and full thickness burns,All ages,Not applicable
90069,Systemic monochloroacetate poisoning,Disease,Disorder,NE61,0019545,T60.3,,C4707283,,,,Systemic monochloroacetate poisoning,All ages,
519400,Peripapillary staphyloma,Morphological anomaly,Disorder,LA13.7Y,0034979,Q14.2,,C5688490,,,,,,
90070,OBSOLETE: Methotrexate poisoning,Particular clinical situation in a disease or syndrome,Disorder,,,,,,,,,,,
519398,Isolated foveal hypoplasia,Morphological anomaly,Disorder,9B75.Y,0034978,H35.8,,C1850993,C565005,,,,,
519404,Optic disc pit,Morphological anomaly,Disorder,LA13.7Y,0034981,Q14.2,,C0338504,,10079967,,,,
519402,Isolated megalopapilla,Morphological anomaly,Disorder,LA13.74,0034980,Q14.2,,C4302055,,,,,,
90050,Retinopathy of prematurity,Disease,Disorder,9B71.3,0006952,H35.1,133780,C0035344,D012178,10038933,5695,Retinopathy of prematurity,"Infancy, Neonatal",Not applicable
519333,Congenital optic disc excavation,Category,Group of disorders,,0850010,,,C5681348,,,,,,
519335,OBSOLETE: Inflammatory/autoimmune optic neuropathy,Category,Group of disorders,,,,,,,,,,,
90045,Hereditary folate malabsorption,Disease,Disorder,5C63.1,0009238,E53.8,229050,C0342705,C562799,,12983,Hereditary folate malabsorption,"Infancy, Neonatal",Autosomal recessive
90052,Recurrent hepatitis C virus induced liver disease in liver transplant recipients,Particular clinical situation in a disease or syndrome,Disorder,1E51.1,,B18.2,,C5681349,,,,Recurrent hepatitis C virus induced liver disease in liver transplant recipients,All ages,Not applicable
519337,Disorder with optic nerve compression,Category,Group of disorders,,,,,,,,,,,
90051,Sepsis in premature infants,Particular clinical situation in a disease or syndrome,Disorder,KA60,,P36.9,,C5681350,,,,Sepsis in premature infants,Neonatal,Not applicable
519339,Pseudopapilledema,Category,Group of disorders,,,,,C0155300,C562401,10037141,,,,
519325,OBSOLETE: Syndromic inherited retinal disorder,Category,Group of disorders,,,,,C5680175,,,,,,
90041,Gaisböck syndrome,Disease,Disorder,3B61.1,0019538,D75.1,,C0541719,,10053885,,Gaisböck syndrome,Adult,
519327,OBSOLETE: Syndromic vitreoretinopathy,Category,Group of disorders,,,,,C5681351,,,,,,
90039,Hemoglobin D disease,Disease,Disorder,3A51.6,0019537,D58.2,,C0272080,,10055019,,Hemoglobin D disease,Childhood,Autosomal recessive
519329,Rare disorder involving multiple structures of the eye,Category,Group of disorders,,,,,C5681352,,,,,,
90044,Familial pseudohyperkalemia,Disease,Disorder,3A10.3,0012204,D58.8,609153,C4273970,,,,Familial pseudohyperkalemia,All ages,Autosomal dominant
519331,Secondary early-onset glaucoma,Category,Group of disorders,,0957341,,,C5681353,,,,,,
90042,Primary familial polycythemia,Disease,Disorder,3A80.0,0007572,D75.0,133100,C4551637,C536842,,9843,Primary familial polycythemia,All ages,Autosomal dominant
90058,Spinal cord injury,Particular clinical situation in a disease or syndrome,Disorder,ND51.2,0043797,T09.3,,C0037929,D013119,10041552,,Spinal cord injury,All ages,Not applicable
519349,Rare ophthalmic disorder with cranial nerve involvement,Category,Group of disorders,,,,,C5681354,,,,,,
519351,Rare optic nerve disorder,Category,Group of disorders,,,,,C5681355,,,,,,
519353,Rare trochlear nerve disorder,Category,Group of disorders,,,,,C5681356,,,,,,
90060,Diffuse alveolar hemorrhage,Clinical syndrome,Disorder,MD23,0019540,R04.8,,C4476767,,,,Diffuse alveolar hemorrhage,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
519355,Rare ocular motility/alignment disorder,Category,Group of disorders,,,,,C5681357,,,,,,
90059,Sudden sensorineural hearing loss,Particular clinical situation in a disease or syndrome,Disorder,AB51.1,0043373,H83.3,,C4275242,,,12927,Sudden sensorineural hearing loss,All ages,Not applicable
519341,Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature,Category,Group of disorders,,,,,C5681359,,,,,,
519343,Rare ophthalmic disorder with cortical involvement,Category,Group of disorders,,,,,C5681360,,,,,,
90053,Complications after hematopoietic stem cell transplantation,Particular clinical situation in a disease or syndrome,Disorder,NE8Y,,Z94.8,,C5680176,,,,Complications after hematopoietic stem cell transplantation,All ages,Not applicable
519345,Rare disorder with optic disc malformation,Category,Group of disorders,,,,,C5681361,,,,,,
90056,Moderate and severe traumatic brain injury,Particular clinical situation in a disease or syndrome,Disorder,,,S06.3,,C5681362,,,,Moderate and severe traumatic brain injury,All ages,Not applicable
519347,Rare neuromuscular disorder with ocular motility/alignment anomaly,Category,Group of disorders,,,,,C5681363,,,,,,
90055,OBSOLETE: Rejection after corneal transplantation,Particular clinical situation in a disease or syndrome,Disorder,,,,,,,,,,,
90024,"Deafness with labyrinthine aplasia, microtia, and microdontia",Malformation syndrome,Disorder,LD2H.Y,0012541,Q16.5,610706,C1853144,C565195,,10707,"Deafness with labyrinthine aplasia, microtia, and microdontia","Infancy, Neonatal",Autosomal recessive
519306,OBSOLETE: Isolated progressive inherited retinal disorder,Category,Group of disorders,,,,,C5681364,,,,,,
90025,Non-syndromic syndactyly,Category,Group of disorders,LB79,0019530,Q70,,C5681365,D013576,10042778,,,,
519304,OBSOLETE: Isolated vitreoretinopathy,Category,Group of disorders,,,,,C5681366,,,,,,
90022,OBSOLETE: Cardiomyopathy-renal anomalies syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
519302,OBSOLETE: Isolated macular dystrophy,Category,Group of disorders,,0957048,,,C5681367,,,,,,
90023,Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency,Disease,Disorder,4B00.00,0012559,D82.8,610798,C4305256,,,,Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency,"Infancy, Neonatal",Autosomal recessive
519300,OBSOLETE: Isolated chorioretinal dystrophy,Category,Group of disorders,,0957337,,,C5681368,,,,,,
519298,Rare scleral disorder,Category,Group of disorders,,,,,C5681369,,,,,,
90020,Parkinson-dementia complex of Guam,Disease,Disorder,6D85.Y,0007104,G12.2,105500,C0543859,,,9239,,,
519296,Rare disorder with pigmented sclera,Category,Group of disorders,,,,,C5681370,,,,,,
90021,Radiation myelitis,Disease,Disorder,NF00,0019529,G97.8,,C4706614,,,,,,
90002,Undifferentiated connective tissue syndrome,Disease,Disorder,LD28.Y,0019527,M35.8,,C0409999,D000074079,10071575,,,,
519294,Syndromic microspherophakia,Category,Group of disorders,,0850009,,,C5681371,,,,,,
519292,Syndromic ectopia lentis,Category,Group of disorders,,,,,C5681372,,,,,,
90003,Inflammatory pseudotumor of the liver,Disease,Disorder,DB99.Y,0019528,K75.8,,C1333967,,,,Inflammatory pseudotumor of the liver,All ages,Not applicable
519323,OBSOLETE: Syndromic macular dystrophy,Category,Group of disorders,,,,,C5681373,,,,,,
90037,Drug-induced autoimmune hemolytic anemia,Disease,Disorder,3A20.Y,0019535,D59.0,,C0391817,,10055213,,Drug-induced autoimmune hemolytic anemia,All ages,Multigenic/multifactorial
519321,OBSOLETE: Syndromic chorioretinal dystrophy,Category,Group of disorders,,,,,C5681374,,,,,,
90038,Shiga toxin-associated hemolytic uremic syndrome,Clinical subtype,Subtype of disorder,3A21.Y,0019536,D58.8,235400,C1268936,,,,Shiga toxin-associated hemolytic uremic syndrome,All ages,Not applicable
90035,Paroxysmal cold hemoglobinuria,Disease,Disorder,3A20.3,0019533,D59.6,,C0086774,C538618,,7335,Paroxysmal cold hemoglobinuria,Childhood,Multigenic/multifactorial
519319,OBSOLETE: Isolated stationary inherited retinal disorder,Category,Group of disorders,,,,,C5681375,,,,,,
519317,Rare retinal vasculopathy,Category,Group of disorders,,,,,C5681376,,,,,,
90036,Mixed-type autoimmune hemolytic anemia,Disease,Disorder,3A20.2,0019534,D59.1,,C4305257,,,,Mixed-type autoimmune hemolytic anemia,All ages,Multigenic/multifactorial
519315,Rare retinal disorder,Category,Group of disorders,,,,,C5681377,,,,,,
90031,Non-spherocytic hemolytic anemia due to hexokinase deficiency,Disease,Disorder,3A10.Y,0009340,D55.2,235700,C0472792,,,3672,Non-spherocytic hemolytic anemia due to hexokinase deficiency,Infancy,Autosomal recessive
519313,Rare macular disorder,Category,Group of disorders,,,,,C5681379,,,,,,
90033,"Autoimmune hemolytic anemia, warm type",Disease,Disorder,3A20.0,0019532,D59.1,,C0272118,,10047822,7876,"Autoimmune hemolytic anemia, warm type",All ages,Multigenic/multifactorial
519311,Rare disorder of the posterior segment of the eye,Category,Group of disorders,,,,,C5681380,,,,,,
90026,Primary erythromelalgia,Disease,Disorder,EG00,0007571,I73.8,133020,C0014805,D004916,,6377,Primary erythromelalgia,All ages,Autosomal dominant
519309,Rare choroidal disorder,Category,Group of disorders,,,,,C5681381,,,,,,
90030,Hemolytic anemia due to glutathione reductase deficiency,Disease,Disorder,3A10.0Y,0019531,D55.1,618660,C5231513,,,,Hemolytic anemia due to glutathione reductase deficiency,No data available,Autosomal recessive
89936,X-linked hypophosphatemia,Disease,Disorder,5C63.22,0010619,E83.3,307800,C3540852,,,12943,X-linked hypophosphatemia,"Childhood, Infancy",X-linked dominant
519272,Structural developmental eye defect,Category,Group of disorders,,,,,C5681382,,,,,,
519274,Syndromic lacrimal system disorder,Category,Group of disorders,,0850007,,,C5681383,,,,,,
89845,OBSOLETE: Idiopathic hydrops fetalis,Disease,Disorder,,,,,,,,,,,
519268,Rare disorder with ectropion,Category,Group of disorders,,,,,C5681384,,,,,,
89844,"Lissencephaly syndrome, Norman-Roberts type",Clinical subtype,Subtype of disorder,LD20.1,0009760,Q04.3,257320,C0796089,C537848,,,"Lissencephaly syndrome, Norman-Roberts type","Infancy, Neonatal",Autosomal recessive
519270,Rare disorder with entropion,Category,Group of disorders,,,,,C5681385,,,,,,
89843,Dystrophic epidermolysis bullosa pruriginosa,Disease,Disorder,EC32,0011398,Q81.2,604129,C1275114,C563192,,,Dystrophic epidermolysis bullosa pruriginosa,Childhood,"Autosomal dominant, Autosomal recessive"
89842,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form",Disease,Disorder,EC32,,Q81.2,,C4511044,,,12794,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form",Neonatal,Autosomal recessive
519264,Inflammatory/autoimmune disorder involving the lacrimal system,Category,Group of disorders,,,,,C5681386,,,,,,
519266,Rare disorder of the ocular adnexa,Category,Group of disorders,,,,,C5681387,,,,,,
89841,OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa,Disease,Disorder,,,,,,,,,,,
89840,"OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type",Disease,Disorder,,,,,,,,,,,
89839,OBSOLETE: Epidermolysis bullosa simplex superficialis,Disease,Disorder,,,,,,,,,,,
90001,X-linked cone dysfunction syndrome with myopia,Disease,Disorder,9B70,0010446,H53.8,300843,C3159311,C564092,,,X-linked cone dysfunction syndrome with myopia,Childhood,X-linked recessive
519288,Rare disorder with corneal involvement as a major feature,Category,Group of disorders,,,,,C5681388,,,,,,
519290,Rare inflammatory/autoimmune corneal disorder,Category,Group of disorders,,,,,C5681389,,,,,,
90000,Erythema elevatum diutinum,Disease,Disorder,EF40.2Y,0019526,L95.1,,C0263398,C535509,10056968,8653,Erythema elevatum diutinum,All ages,Unknown
519284,Rare disorder of the anterior segment of the eye,Category,Group of disorders,,,,,C5681390,,,,,,
519286,Rare disorder of the pupil,Category,Group of disorders,,,,,C5681391,,,,,,
519280,Rare conjunctivitis,Category,Group of disorders,,,,,C5681392,,,,,,
519282,Rare corneal disorder,Category,Group of disorders,,,,,C5681393,,,,,,
89939,NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis,Disease,Disorder,,,,,,,,,,,
519276,Anterior segment developmental anomaly with extraocular manifestations,Category,Group of disorders,,0850008,,,C5681394,,,,,,
89938,Bartter syndrome type 4,Clinical subtype,Subtype of disorder,GB90.43,0019524,E26.8,613090,C3838860,,,10508,Bartter syndrome type 4,Antenatal,Autosomal recessive
89937,Autosomal dominant hypophosphatemic rickets,Disease,Disorder,5C63.22,0008660,E83.3,193100,C0342642,C562791,,,Autosomal dominant hypophosphatemic rickets,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
519278,Infective keratitis,Category,Group of disorders,,,,,C3898765,,10076672,,,,
90338,Margarita island ectodermal dysplasia,Malformation syndrome,Disorder,,,,,,,,,,,
90339,OBSOLETE: Rosselli-Gulienetti syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
90340,Blau syndrome,Disease,Disorder,4A60.Y,0008523,D89.8,186580,C5201146,,10071755,304,Blau syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
90341,Early-onset sarcoidosis,Disease,Disorder,,,,,C1836122,,,,,,
90342,Xeroderma pigmentosum variant,Disease,Disorder,LD27.Y,0010214,Q82.1,278750,C1848410,C536766,,5630,Xeroderma pigmentosum variant,"Adolescent, Adult",Autosomal recessive
90345,OBSOLETE: Unclassified metaphyseal chondrodysplasia,Disease,Disorder,,,,,,,,,,,
90348,Autosomal dominant cutis laxa,Disease,Disorder,LD28.2,0019571,Q82.8,616603,C0268350,C562627,,1639,Autosomal dominant cutis laxa,"Infancy, Neonatal",Autosomal dominant
90349,Autosomal recessive cutis laxa type 1,Disease,Disorder,LD28.2,0019572,Q82.8,219100,C0268351,C562628,,8480,Autosomal recessive cutis laxa type 1,"Infancy, Neonatal",Autosomal recessive
90350,Autosomal recessive cutis laxa type 2,Clinical group,Group of disorders,,0019573,,,C0432337,,,,Autosomal recessive cutis laxa type 2,"Infancy, Neonatal",Autosomal recessive
90354,Brittle cornea syndrome,Disease,Disorder,LD28.1Y,0009242,Q79.6,614170,C0268344,,,1019,Brittle cornea syndrome,"Infancy, Neonatal",Autosomal recessive
90362,Primary intestinal lymphangiectasia,Disease,Disorder,LB15.Y,0007916,I89.0,152800,C2931241,C536567,,7873,Primary intestinal lymphangiectasia,All ages,
90363,Secondary intestinal lymphangiectasia,Disease,Disorder,BD92.0,0019574,I89.0,,C4273969,,,,Secondary intestinal lymphangiectasia,"Adult, Elderly",
90290,CREST syndrome,Clinical subtype,Subtype of disorder,,,M34.1,,C0206138,D017675,10011380,,,,
90289,Localized scleroderma,Disease,Disorder,EB61.0,0019562,L94.0,,C0036420,D012594,10039712,7058,Localized scleroderma,All ages,Not applicable
90301,Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,Disease,Disorder,5A44,0008696,E34.8,200170,C4305258,,,453,Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,Adult,
90291,Systemic sclerosis,Disease,Disorder,4A42,0005100,M34.9,181750,C0036421,D012595,10042953,9748,Systemic sclerosis,Adult,"Multigenic/multifactorial, Not applicable"
90308,Capillary-lymphatic-venous malformation with segmental distribution,Disease,Disorder,LD26.60,,Q87.2,149000,C5848351,,10051452,,Capillary-lymphatic-venous malformation with segmental distribution,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
90307,Parkes Weber syndrome,Disease,Disorder,LD26.60,0020783,Q87.2,608354,C5574870,,10075554,9787,Parkes Weber syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
90318,OBSOLETE: Ehlers-Danlos syndrome type 2,Etiological subtype,Subtype of disorder,,,,,,,,,,,
90309,OBSOLETE: Ehlers-Danlos syndrome type 1,Etiological subtype,Subtype of disorder,,,,,,,,,,,
90322,Cockayne syndrome type 2,Clinical subtype,Subtype of disorder,LD2B,0019570,Q87.8,216400,C0751038,,,1420,Cockayne syndrome type 2,"Antenatal, Infancy, Neonatal",Autosomal recessive
90321,Cockayne syndrome type 1,Clinical subtype,Subtype of disorder,LD2B,0019569,Q87.8,216400,C0751039,,,1415,Cockayne syndrome type 1,"Antenatal, Infancy, Neonatal",Autosomal recessive
90324,Cockayne syndrome type 3,Clinical subtype,Subtype of disorder,LD2B,0008998,Q87.8,216400,C0751037,,,1417,Cockayne syndrome type 3,"Antenatal, Infancy, Neonatal",Autosomal recessive
90156,Centrifugal lipodystrophy,Disease,Disorder,EF01.1,0019552,E88.1,,C0406605,,,,Centrifugal lipodystrophy,"Adolescent, Adult, Childhood, Elderly, Infancy",
90157,Drug-induced localized lipodystrophy,Disease,Disorder,EF01.1,0019553,E88.1,,C1274983,,,,Drug-induced localized lipodystrophy,All ages,
90153,Mandibuloacral dysplasia with type A lipodystrophy,Clinical subtype,Subtype of disorder,LD27.6Z,0009557,Q87.5,248370,C5399785,C535705,,3374,Mandibuloacral dysplasia with type A lipodystrophy,"Infancy, Neonatal",Autosomal recessive
90154,Mandibuloacral dysplasia with type B lipodystrophy,Clinical subtype,Subtype of disorder,LD27.6Z,0012074,Q87.5,608612,C1837756,C535706,,9989,Mandibuloacral dysplasia with type B lipodystrophy,"Infancy, Neonatal",Autosomal recessive
90160,Pressure-induced localized lipoatrophy,Disease,Disorder,EF01.1,0019556,E88.1,,C1260961,,,,Pressure-induced localized lipoatrophy,"Adult, Elderly",
90158,Idiopathic localized lipodystrophy,Disease,Disorder,EF01.1,0019554,E88.1,,C0473566,,,,Idiopathic localized lipodystrophy,"Adolescent, Adult, Childhood, Infancy",
90159,Panniculitis-induced localized lipodystrophy,Disease,Disorder,EF01.1,0019555,E88.1,,C5190785,,,,Panniculitis-induced localized lipodystrophy,All ages,
90280,Chilblain lupus,Disease,Disorder,EB51.Y,0019557,L93.2,,C4551515,C535924,,,Chilblain lupus,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
90281,Discoid lupus erythematosus,Disease,Disorder,EB51.0,0019558,L93.0,,C5574816,D008179,10013072,,Discoid lupus erythematosus,"Adolescent, Adult, Childhood, Elderly",
90185,Non-hereditary late-onset primary lymphedema,Disease,Disorder,,,,,,,,,,,
90186,Meige disease,Disease,Disorder,BD93.0,0007920,Q82.0,153200,C1704424,,,3324,Meige disease,"Adolescent, Childhood",Not applicable
90285,Lupus erythematosus panniculitis,Disease,Disorder,EB51.Y,0019561,L93.2,,C0030327,D015435,,,Lupus erythematosus panniculitis,"Adolescent, Adult, Childhood, Elderly, Infancy",
90287,OBSOLETE: Maculopapular lupus rash,Disease,Disorder,,,,,,,,,,,
90282,Hypertrophic or verrucous lupus erythematosus,Disease,Disorder,EB51.Y,0019559,L93.2,,C1274838,,,,,,
90283,Lupus erythematosus tumidus,Disease,Disorder,EB51.Y,0019560,L93.2,,C0406636,,,13003,Lupus erythematosus tumidus,"Adolescent, Adult, Childhood, Elderly",
90080,Scarring in glaucoma filtration surgical procedures,Particular clinical situation in a disease or syndrome,Disorder,9D22,,H59.8,,C5681395,,,,Scarring in glaucoma filtration surgical procedures,All ages,Not applicable
90079,OBSOLETE: Anthracycline extravasation,Particular clinical situation in a disease or syndrome,Disorder,,,,,,,,,,,
90078,Invasive infections due to vancomycin-resistant enterococci,Particular clinical situation in a disease or syndrome,Disorder,1C4Y,,A49.1,,C5680177,,10053621,,Invasive infections due to vancomycin-resistant enterococci,All ages,
90077,Other acquired skin disease,Category,Group of disorders,,,,,C5681396,,,,,,
90103,Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,Malformation syndrome,Disorder,8C20.Y,0008960,G60.0,214370,C4706301,,,,Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,Infancy,Autosomal recessive
514980,ATP13A2-related parkinsonism,Clinical group,Group of disorders,,,,,C5681397,,,,ATP13A2-related parkinsonism,"Adolescent, Childhood",
90081,AIDS wasting syndrome,Particular clinical situation in a disease or syndrome,Disorder,1C62.3Y,0005797,B22.2,,C0343755,D019247,10050309,,AIDS wasting syndrome,All ages,Not applicable
90118,Severe early-onset axonal neuropathy due to MFN2 deficiency,Disease,Disorder,,0019549,G60.0,,C4707897,,,,Severe early-onset axonal neuropathy due to MFN2 deficiency,Childhood,Autosomal recessive
90117,"Hereditary motor and sensory neuropathy, Okinawa type",Disease,Disorder,8C20.Y,0011468,G60.0,604484,C1858338,C535717,,10131,"Hereditary motor and sensory neuropathy, Okinawa type",Adult,Autosomal dominant
90114,Autosomal dominant intermediate Charcot-Marie-Tooth disease,Clinical group,Group of disorders,8C20.2,0019548,,,C5680178,,,12436,Autosomal dominant intermediate Charcot-Marie-Tooth disease,"Adolescent, Adult, Childhood",Autosomal dominant
90120,Hereditary motor and sensory neuropathy type 6,Disease,Disorder,8C20.1,0019551,G60.0,616505,C0393807,C562851,,,Hereditary motor and sensory neuropathy type 6,All ages,"Autosomal dominant, Autosomal recessive"
90119,Hereditary motor and sensory neuropathy with acrodystrophy,Disease,Disorder,8C20.1,0019550,G60.0,,C4749729,,,,Hereditary motor and sensory neuropathy with acrodystrophy,,Autosomal recessive
525677,Genetic congenital malformation of the eye with glaucoma as a major feature,Category,Group of disorders,,,,,C5681398,,,,Genetic congenital malformation of the eye with glaucoma as a major feature,Neonatal,
525731,Pediatric-onset Graves disease,Disease,Disorder,5A02.0,0033925,E05.0,,C5680179,,,,Pediatric-onset Graves disease,"Adolescent, Childhood, Infancy",
525738,Prepubertal anorexia nervosa,Disease,Disorder,,0033926,F50.0,,C5568567,,,,,,
522584,OBSOLETE: Rare genetic choroidal disorder,Category,Group of disorders,,,,,C5681399,,,,,,
523000,Pediatric-onset glaucoma,Category,Group of disorders,,,,,C5681400,,,,Pediatric-onset glaucoma,"Adolescent, Childhood, Infancy, Neonatal",
522574,Rare genetic macular disorder,Category,Group of disorders,,,,,C5681401,,,,,,
522576,Rare genetic retinal vasculopathy,Category,Group of disorders,,,,,C5681402,,,,,,
88673,Hepatocellular carcinoma,Clinical group,Group of disorders,2C12.02,0007256,C22.0,114550,C2239176,D006528,10049010,,Hepatocellular carcinoma,All ages,Not applicable
522578,Rare genetic disorder involving multiple structures of the eye,Category,Group of disorders,,,,,C5681403,,,,,,
522580,Secondary early-onset glaucoma of genetic origin,Category,Group of disorders,,,,,C5681404,,,,,,
522568,Rare genetic disorder of the pupil,Category,Group of disorders,,,,,C5681405,,,,,,
88644,"Autosomal recessive ataxia, Beauce type",Disease,Disorder,,0012549,G11.2,610743,C3683483,C579934,,12234,"Autosomal recessive ataxia, Beauce type","Adult, Childhood, Neonatal",Autosomal recessive
522566,Rare genetic inflammatory/autoimmune corneal disorder,Category,Group of disorders,,,,,C5681406,,,,,,
88659,Autosomal dominant progressive nephropathy with hypertension,Disease,Disorder,BA04.Y,0008071,I15.1,161900,C3839782,,,,Autosomal dominant progressive nephropathy with hypertension,Adult,Autosomal dominant
522572,Rare genetic retinal disorder,Category,Group of disorders,,,,,C5681407,,,,,,
88660,Hypertension due to gain-of-function mutations in the mineralocorticoid receptor,Disease,Disorder,BA04.Y,0011517,I15.1,,C4707886,,,,,,
522570,Rare genetic disorder of the posterior segment of the eye,Category,Group of disorders,,,,,C5681408,,,,,,
88661,Amelogenesis imperfecta,Disease,Disorder,LA30.6,0019507,K00.5,617217,C0002452,D000567,,5791,Amelogenesis imperfecta,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked dominant"
88637,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,Clinical subtype,Subtype of disorder,8A44.3,,G11.1,616494,C2676243,C567313,,,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
522560,Genetic corneal dystrophy,Category,Group of disorders,,,,,C5681409,,,,,,
522558,Rare genetic disorder with corneal involvement as a major feature,Category,Group of disorders,,,,,C5681410,,,,,,
88639,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,Disease,Disorder,5C50.E0,0009603,E71.1,250620,C0342738,C562803,,13202,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,Infancy,Autosomal recessive
522564,Syndromic genetic keratoconus,Category,Group of disorders,,,,,C5681411,,,,,,
88642,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,Disease,Disorder,,0009459,G60.8,243000,C5680180,,,12267,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,Neonatal,"Autosomal dominant, Autosomal recessive"
88643,Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,Disease,Disorder,5A00.0Y,0019506,E03.8,,C4302879,,,,Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,"Infancy, Neonatal",Unknown
522562,Genetic superficial corneal dystrophy,Category,Group of disorders,,,,,C5681412,,,,,,
88632,Anterior segment developmental anomaly,Category,Group of disorders,LA11,0019503,,107250,C1862839,C537775,,10025,Anterior segment developmental anomaly,Neonatal,Autosomal dominant
522552,Lens position anomaly of genetic origin,Category,Group of disorders,,,,,C5681413,,,,,,
88633,Superior limbic keratoconjunctivitis,Disease,Disorder,9A60.Y,0019504,H16.2,,C0339229,,10078410,10940,,,
522550,Lens size anomaly of genetic origin,Category,Group of disorders,,,,,C5681414,,,,,,
88635,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,Disease,Disorder,8C7Y,0014546,G71.8,616231,C4510368,,,,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,Adult,"Autosomal dominant, Unknown"
522556,Rare genetic corneal disorder,Category,Group of disorders,,,,,C5681415,,,,,,
522554,Syndromic genetic ectopia lentis,Category,Group of disorders,,,,,C5681416,,,,,,
88636,Aortic dilatation-joint hypermobility-arterial tortuosity syndrome,Disease,Disorder,,,,,,,,,,,
522544,OBSOLETE: Rare genetic conjunctivitis,Category,Group of disorders,,,,,,,,,,,
88621,Ichthyosis-prematurity syndrome,Disease,Disorder,LD27.2,0012089,Q80.8,608649,C1837610,C536271,,9886,Ichthyosis-prematurity syndrome,"Infancy, Neonatal",Autosomal recessive
522542,Rare genetic disorder with conjunctival involvement as a major feature,Category,Group of disorders,,,,,C5681417,,,,,,
88628,Posterior column ataxia-retinitis pigmentosa syndrome,Disease,Disorder,,0012177,G11.1,609033,C1836916,C536343,,9898,Posterior column ataxia-retinitis pigmentosa syndrome,Childhood,Autosomal recessive
88629,Tritanopia,Disease,Disorder,9D44,0008610,H53.5,190900,C0155017,,,,Tritanopia,"Infancy, Neonatal",Autosomal dominant
522548,Syndromic genetic cataract,Category,Group of disorders,,,,,C5681418,,,,,,
88630,Terminal osseous dysplasia-pigmentary defects syndrome,Malformation syndrome,Disorder,LD24.8Y,0010279,Q87.2,300244,C4509953,,,,Terminal osseous dysplasia-pigmentary defects syndrome,"Infancy, Neonatal",X-linked dominant
522546,Rare genetic disorder with lens opacification,Category,Group of disorders,,,,,C5681419,,,,,,
522538,Rare genetic disorder of the anterior segment of the eye,Category,Group of disorders,,,,,C5681420,,,,,,
88620,Isolated congenital anosmia,Disease,Disorder,CA0Y,0007137,Q07.8,107200,C0393778,C535983,10079876,9486,Isolated congenital anosmia,"Infancy, Neonatal","Autosomal dominant, X-linked recessive"
522540,Anterior segment developmental anomaly of genetic origin,Category,Group of disorders,,,,,C5681421,,,,,,
88619,Familial acute necrotizing encephalopathy,Disease,Disorder,,0011953,G93.4,608033,C4509836,,,13232,Familial acute necrotizing encephalopathy,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
88618,S-adenosylhomocysteine hydrolase deficiency,Disease,Disorder,5C50.B,0013404,E72.1,613752,C3151058,,,13177,S-adenosylhomocysteine hydrolase deficiency,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
522534,Lacrimal drainage system anomaly of genetic origin,Category,Group of disorders,,,,,C5681422,,,,,,
522536,Structural developmental eye defect of genetic origin,Category,Group of disorders,,,,,C5681423,,,,,,
88616,Autosomal recessive non-syndromic intellectual disability,Etiological subtype,Subtype of disorder,LD90.Y,0019502,F71,617863,C5680181,,,,Autosomal recessive non-syndromic intellectual disability,"Childhood, Infancy",Autosomal recessive
522530,Rare genetic disorder with entropion,Category,Group of disorders,,,,,C5681424,,,,,,
522532,Rare genetic disorder of the lacrimal apparatus,Category,Group of disorders,,,,,C5681425,,,,,,
87884,Rare non-syndromic genetic deafness,Disease,Disorder,AB50,0019497,H90.5,,C5680182,,,,Rare non-syndromic genetic deafness,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
87876,Sialidosis type 2,Disease,Disorder,5C56.21,0009738,E77.1,256550,C3888317,,,7183,Sialidosis type 2,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
522526,Rare genetic palpebral disorder,Category,Group of disorders,,,,,C5681426,,,,,,
522528,Rare genetic eyelid malposition disorder,Category,Group of disorders,,,,,C5681427,,,,,,
87503,Mal de Meleda,Disease,Disorder,EC20.30,0009552,Q82.8,248300,C0025221,,,92,Mal de Meleda,"Childhood, Infancy",Autosomal recessive
522522,Rare genetic neuromuscular disorder with ocular motility/alignment anomaly,Category,Group of disorders,,,,,C5681428,,,,,,
87277,Rare intellectual disability,Category,Group of disorders,,,,,C5681429,,,,,,
522524,Rare genetic disorder of the ocular adnexa,Category,Group of disorders,,,,,C5681430,,,,,,
522518,Rare genetic disorder with strabismus,Category,Group of disorders,,,,,C5681431,,,,,,
522520,Syndromic genetic disorder with strabismus,Category,Group of disorders,,,,,C5681432,,,,,,
86923,"Hereditary palmoplantar keratoderma, Gamborg-Nielsen type",Disease,Disorder,,0009489,,,C4273986,,,,,,
522514,Congenital optic disc excavation of genetic origin,Category,Group of disorders,,,,,C5681433,,,,,,
522516,Rare genetic ocular motility/alignment disorder,Category,Group of disorders,,,,,C5681434,,,,,,
522510,Rare genetic ophthalmic disorder with cranial nerve involvement,Category,Group of disorders,,,,,C5681435,,,,,,
86920,Dermatopathia pigmentosa reticularis,Disease,Disorder,,0007445,Q82.4,125595,C0406778,C535374,,8550,Dermatopathia pigmentosa reticularis,"Infancy, Neonatal",Autosomal dominant
522512,Rare genetic optic nerve disorder,Category,Group of disorders,,,,,C5681436,,,,,,
86919,Keratosis palmaris et plantaris-clinodactyly syndrome,Disease,Disorder,,0007857,Q82.8,148520,C4510514,,,,Keratosis palmaris et plantaris-clinodactyly syndrome,Neonatal,Autosomal dominant
522508,Rare genetic ophthalmic disorder with cortical involvement,Category,Group of disorders,,,,,C5681437,,,,,,
86917,OBSOLETE: Lymphedema-cleft palate syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
522506,Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature,Category,Group of disorders,,,,,C5681438,,,,,,
86918,Diffuse palmoplantar keratoderma-acrocyanosis syndrome,Disease,Disorder,,0019489,Q82.8,,C4303588,,,,Diffuse palmoplantar keratoderma-acrocyanosis syndrome,"Infancy, Neonatal",Autosomal dominant
522504,Rare genetic disorder of the visual organs,Category,Group of disorders,,,,,C5681439,,,,,,
86915,Lymphedema-atrial septal defects-facial changes syndrome,Malformation syndrome,Disorder,BD93.0,0011166,Q87.8,601927,C2677167,C567398,,284,Lymphedema-atrial septal defects-facial changes syndrome,"Infancy, Neonatal",Autosomal recessive
522077,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,Disease,Disorder,,0033864,F84.8,618218,C4748715,,,,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,Infancy,Autosomal dominant
522043,Syndromic autoimmune enteropathy,Clinical group,Group of disorders,,,,,C5681440,,,,,,
86913,Myoclonic epilepsy in non-progressive encephalopathies,Malformation syndrome,Disorder,,0019488,G40.4,,C4755298,,,,Myoclonic epilepsy in non-progressive encephalopathies,"Childhood, Infancy",
522037,Primary autoimmune enteropathy,Disease,Disorder,DA96.0Y,0033862,K90.8,,C5681441,,,,,,
86914,Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome,Malformation syndrome,Disorder,,0007917,Q28.3,152900,C4302917,,,,Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome,Adolescent,
86909,Myoclonic epilepsy of infancy,Disease,Disorder,8A61.1Y,0019486,G40.3,,C0751120,,,,Myoclonic epilepsy of infancy,Infancy,Autosomal recessive
86911,Epilepsy with myoclonic absences,Disease,Disorder,8A61.23,0019487,G40.4,,C0393703,,,,Epilepsy with myoclonic absences,"Adolescent, Childhood, Infancy",Multigenic/multifactorial
86906,Gelastic seizures with hypothalamic hamartoma,Disease,Disorder,,0019484,G40.5,,C4707883,,,,,,
86908,Hemiconvulsion-hemiplegia-epilepsy syndrome,Disease,Disorder,8A62.Y,0019485,G40.4,,C0549118,,10085010,,,,
86903,Dendritic cell sarcoma not otherwise specified,Disease,Disorder,XH8Q19,0019482,C96.4,,C1301364,,,,,,
521450,LAMA5-related multisystemic syndrome,Disease,Disorder,FB56.6,0033856,M79.8,,C5681442,,,,LAMA5-related multisystemic syndrome,"Infancy, Neonatal",Autosomal dominant
86904,Methotrexate-associated lymphoproliferative disorders,Disease,Disorder,2B32.Y,0019483,D47.7,,C1334749,,,,,,
521445,Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,Malformation syndrome,Disorder,,0035027,Q87.8,,C5681443,,,,Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,"Infancy, Neonatal",Autosomal dominant
521438,Congenital vertebral-cardiac-renal anomalies syndrome,Malformation syndrome,Disorder,LD2F.1Y,0020831,Q87.8,617661,C5680183,,,,Congenital vertebral-cardiac-renal anomalies syndrome,Neonatal,Autosomal recessive
86900,Interdigitating dendritic cell sarcoma,Disease,Disorder,2B31.4,0009975,C96.4,267730,C1260326,D054739,10038804,,Interdigitating dendritic cell sarcoma,Adult,
521432,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,Disease,Disorder,DB99.Y,0033853,K83.1,,C5681444,,,,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,Neonatal,Autosomal recessive
86902,Follicular dendritic cell sarcoma,Disease,Disorder,2B31.5,0005764,C96.4,,C1260325,D054740,10075332,,Follicular dendritic cell sarcoma,All ages,
521426,PLAA-associated neurodevelopmental disorder,Malformation syndrome,Disorder,,0060502,Q87.8,617527,C4479631,,,,PLAA-associated neurodevelopmental disorder,"Infancy, Neonatal",Autosomal recessive
86896,Histiocytic sarcoma,Disease,Disorder,2B31.1,0019479,C96.8,,C0334663,D054747,10076876,,Histiocytic sarcoma,Adult,
521414,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,Disease,Disorder,,0054833,G60.0,618036,C4747974,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,"Adolescent, Adult, Childhood",Autosomal dominant
86897,Langerhans cell sarcoma,Disease,Disorder,2B31.3,0019480,C96.4,,C1260327,D054752,10078782,10491,Langerhans cell sarcoma,All ages,
521258,Xq25 microduplication syndrome,Malformation syndrome,Disorder,,0010507,Q98.8,300979,C5447842,,,,Xq25 microduplication syndrome,"Childhood, Infancy",
89832,OBSOLETE: Syndromic lymphedema,Category,Group of disorders,,,,,,,,,,,
89826,Rare skin disease,Category,Group of disorders,,,,,C5681445,,,,,,
521268,Sodium-dependent multivitamin transporter deficiency,Disease,Disorder,,,,,,,,,,,
521305,Proximal myopathy with focal depletion of mitochondria,Disease,Disorder,,0010923,G72.8,600706,C1833453,C563453,,,Proximal myopathy with focal depletion of mitochondria,"Adolescent, Adult, Childhood",Mitochondrial inheritance
89833,Palmoplantar keratoderma with tonotubular keratin,Disease,Disorder,,,,,,,,,,,
521308,Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,Malformation syndrome,Disorder,,0035018,Q87.0,,C5567892,,,,Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,"Infancy, Neonatal",
521390,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,Malformation syndrome,Disorder,,0015007,G11.4,617296,C4284592,,,,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,"Antenatal, Neonatal",Autosomal dominant
521399,NON RARE IN EUROPE: Non rare obesity,Disease,Disorder,,,,,,,,,,,
521406,Dystonia-parkinsonism-hypermanganesemia syndrome,Disease,Disorder,,0014864,E83.8,617013,C4310765,,,,Dystonia-parkinsonism-hypermanganesemia syndrome,Infancy,Autosomal recessive
89838,Autosomal recessive generalized epidermolysis bullosa simplex,Disease,Disorder,EC30,0010976,Q81.0,601001,C5680184,,,,Autosomal recessive generalized epidermolysis bullosa simplex,"Infancy, Neonatal",Autosomal recessive
521411,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,Disease,Disorder,,0033850,G60.0,,C5569051,,,,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,"Adolescent, Infancy",Autosomal recessive
520820,Progressive external ophthalmoplegia,Category,Group of disorders,9C82.0,0005181,,,,,10036802,4503,,,
521123,Radiation-induced plexopathy,Disease,Disorder,8B91.Y,0033838,G54.0,,C5681446,,,,,,
521127,Osteoradionecrosis of the mandible,Disease,Disorder,DA06.0,0033839,K10.2,,C1290728,,,,,,
521132,Radiation-induced disorder,Category,Group of disorders,,0043459,,,C1527225,,,,,,
521219,Mirizzi syndrome,Clinical syndrome,Disorder,DC11.Y,0043330,K80.8,,C0267878,D057792,,10177,Mirizzi syndrome,"Adult, Elderly",
89043,Rare dementia,Category,Group of disorders,,,,,C5681447,,,,,,
521232,Genetic primary orthostatic disorder,Category,Group of disorders,,,,,C5681448,,,,,,
521236,Primary orthostatic disorder,Category,Group of disorders,,,,,C5681449,,,,,,
88949,MUC1-related autosomal dominant tubulointerstitial kidney disease,Clinical subtype,Subtype of disorder,GB82,0020726,Q61.5,174000,C1868139,C536137,,7002,MUC1-related autosomal dominant tubulointerstitial kidney disease,Adult,Autosomal dominant
88950,UMOD-related autosomal dominant tubulointerstitial kidney disease,Clinical subtype,Subtype of disorder,GB82,0008073,Q61.5,162000,C1859040,C548033,,10679,UMOD-related autosomal dominant tubulointerstitial kidney disease,"Adolescent, Adult",Autosomal dominant
88991,Rare congenital non-syndromic heart malformation,Category,Group of disorders,,,,,C5681450,,,,,,
88993,Esophageal malformation,Category,Group of disorders,LB12,,,,C5681451,,,,,,
520817,OBSOLETE: Isolated inherited retinal disorder,Category,Group of disorders,,,,,C5681452,,,,,,
520814,Rare disorder of the visual organs,Category,Group of disorders,,,,,C5681453,,,,,,
88940,Pseudohypoaldosteronism type 2C,Etiological subtype,Subtype of disorder,BA04.Y,0013778,I15.1,614492,C1840391,C564162,,,Pseudohypoaldosteronism type 2C,,Autosomal dominant
88939,Pseudohypoaldosteronism type 2B,Etiological subtype,Subtype of disorder,BA04.Y,0013777,I15.1,614491,C1840390,C564161,,,Pseudohypoaldosteronism type 2B,,Autosomal dominant
519930,Fungal keratitis,Disease,Disorder,9A71,0033821,B49+,,C1262117,,10062353,,,,
88938,Pseudohypoaldosteronism type 2A,Etiological subtype,Subtype of disorder,BA04.Y,0007772,I15.1,145260,C1840389,C564160,,,,,
88924,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,Disease,Disorder,LD2F.1Y,0010856,Q61.2,600273,C1838327,,,9481,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,"Adolescent, Childhood, Infancy",Autosomal dominant
88918,Autosomal dominant Alport syndrome,Clinical subtype,Subtype of disorder,LD2H.Y,0007086,Q87.8,104200,C1567743,C536586,,624,Autosomal dominant Alport syndrome,Childhood,Autosomal dominant
88919,Autosomal recessive Alport syndrome,Clinical subtype,Subtype of disorder,LD2H.Y,0008762,Q87.8,620536,C1567744,C536587,,625,Autosomal recessive Alport syndrome,Childhood,Autosomal recessive
88917,X-linked Alport syndrome,Clinical subtype,Subtype of disorder,LD2H.Y,0010520,Q87.8,301050,C1567742,,,,X-linked Alport syndrome,Childhood,X-linked dominant
93256,Fragile X-associated tremor/ataxia syndrome,Malformation syndrome,Disorder,8A03.1Y,0010382,G11.2,300623,C1839780,C564105,,,Fragile X-associated tremor/ataxia syndrome,Adult,X-linked dominant
528105,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,Disease,Disorder,GB90.4Y,0060564,N25.8,617671,C4522164,,,,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
93222,OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
93221,OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
528091,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,Disease,Disorder,,0014869,E88.8,617021,C4310761,,,,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,Neonatal,
93220,OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
93218,OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
528084,Non-specific syndromic intellectual disability,Disease,Disorder,,,F84.8,620065,C5568766,,,,Non-specific syndromic intellectual disability,"Childhood, Infancy","Autosomal dominant, Autosomal recessive, X-linked recessive"
93217,OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
93216,OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
93214,OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
93262,Crouzon syndrome-acanthosis nigricans syndrome,Malformation syndrome,Disorder,LD24.GY,0012833,Q75.1,612247,C2677099,C567382,,,Crouzon syndrome-acanthosis nigricans syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
93260,Pfeiffer syndrome type 3,Clinical subtype,Subtype of disorder,LD24.G0,0019661,Q87.0,101600,C5438850,,,,Pfeiffer syndrome type 3,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
93259,Pfeiffer syndrome type 2,Clinical subtype,Subtype of disorder,LD24.G0,0019660,Q87.0,101600,C5438849,,,,Pfeiffer syndrome type 2,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
93258,Pfeiffer syndrome type 1,Clinical subtype,Subtype of disorder,LD24.G0,0019659,Q87.0,101600,C5438812,,,,Pfeiffer syndrome type 1,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",Malformation syndrome,Disorder,LD24.B0,,Q77.2,615633,C0432197,C537602,,4835,"Short rib-polydactyly syndrome, Verma-Naumoff type","Antenatal, Neonatal",Autosomal recessive
93269,"Short rib-polydactyly syndrome, Majewski type",Malformation syndrome,Disorder,LD24.B0,0019662,Q77.2,613091,C0024507,,,4833,"Short rib-polydactyly syndrome, Majewski type","Antenatal, Neonatal",Autosomal recessive
93270,"Short rib-polydactyly syndrome, Saldino-Noonan type",Malformation syndrome,Disorder,LD24.B0,,Q77.2,613091,C0036069,,,4834,"Short rib-polydactyly syndrome, Saldino-Noonan type",Neonatal,Autosomal recessive
93267,Cloverleaf skull-multiple congenital anomalies syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011788,Q87.8,607161,C1846671,C564611,,,Cloverleaf skull-multiple congenital anomalies syndrome,"Antenatal, Neonatal",Autosomal recessive
93268,"Short rib-polydactyly syndrome, Beemer-Langer type",Malformation syndrome,Disorder,LD24.B0,0010024,Q77.2,269860,C0432198,C537599,,4832,"Short rib-polydactyly syndrome, Beemer-Langer type","Antenatal, Neonatal",Autosomal recessive
93282,"Spondyloepimetaphyseal dysplasia, PAPSS2 type",Disease,Disorder,LD24.3,0019666,Q77.7,612847,C2748515,C567551,,,"Spondyloepimetaphyseal dysplasia, PAPSS2 type","Infancy, Neonatal",Autosomal recessive
93283,"Spondyloepiphyseal dysplasia, Kimberley type",Disease,Disorder,LD24.3,0012019,Q77.7,608361,C1842149,C564252,,,"Spondyloepiphyseal dysplasia, Kimberley type","Infancy, Neonatal",Autosomal dominant
93279,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,Disease,Disorder,LD24.3,0011496,Q77.7,604864,C4275063,,,,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,"Adolescent, Adult, Childhood",Autosomal dominant
93280,"Spondyloepiphyseal dysplasia, Omani type",Disease,Disorder,,,,,C1837657,C535789,,,,,
93276,Polyostotic fibrous dysplasia,Clinical subtype,Subtype of disorder,FB80.0,0008274,Q78.1,,C0016065,D005359,10036120,4213,Polyostotic fibrous dysplasia,,Unknown
93277,Monostotic fibrous dysplasia,Clinical subtype,Subtype of disorder,FB80.0,0019665,M85.0,,C0016064,D005358,,,Monostotic fibrous dysplasia,,Not applicable
93274,Thanatophoric dysplasia type 2,Clinical subtype,Subtype of disorder,LD24.02,0008547,Q77.1,187601,C1300257,C536508,,1402,Thanatophoric dysplasia type 2,"Infancy, Neonatal","Autosomal dominant, Not applicable"
93275,"Thanatophoric dysplasia, Glasgow variant",Clinical subtype,Subtype of disorder,,,,273680,C1848865,C536506,,,,,
93108,Renal dysplasia,Morphological anomaly,Disorder,LB30.1,0019638,Q61.4,,C3536714,,10038433,,Renal dysplasia,"All ages, Antenatal","Autosomal dominant, Not applicable"
527497,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,Disease,Disorder,,0033043,E75.2,617560,C4479653,,,,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,"Childhood, Infancy",Autosomal recessive
93101,Renal hypoplasia,Morphological anomaly,Disorder,LB30.0Y,0019637,Q60.4,,C0266295,,10049102,,Renal hypoplasia,All ages,"Autosomal dominant, Not applicable"
93110,Posterior urethral valve,Morphological anomaly,Disorder,LB31.2,0019640,Q64.2,618612,C0238506,,10036369,7439,Posterior urethral valve,All ages,"Autosomal recessive, Not applicable, X-linked recessive"
93109,Congenital megacalycosis,Morphological anomaly,Disorder,LB31.Y,0019639,Q63.8,,C5545379,,,,Congenital megacalycosis,All ages,Unknown
527450,Severe myopia-generalized joint laxity-short stature syndrome,Malformation syndrome,Disorder,,0060556,Q87.5,617662,C4540020,,,,Severe myopia-generalized joint laxity-short stature syndrome,Neonatal,Autosomal recessive
91547,Relapsing fever,Disease,Disorder,1C1J,0019633,A68.9,,C0035021,D012061,10038300,,Relapsing fever,All ages,Not applicable
93100,"Renal agenesis, unilateral",Clinical subtype,Subtype of disorder,LB30.00,0019636,Q60.0,617805,C0266294,,10053624,,"Renal agenesis, unilateral","All ages, Antenatal",Autosomal dominant
527468,Diaphragmatic hernia-short bowel-asplenia syndrome,Malformation syndrome,Disorder,,0035105,Q87.8,,C5681454,,,,Diaphragmatic hernia-short bowel-asplenia syndrome,Antenatal,Autosomal recessive
92050,Congenital tufting enteropathy,Disease,Disorder,DA90.Y,0013184,P78.3,613217,C4275062,,,10630,Congenital tufting enteropathy,"Infancy, Neonatal",Autosomal recessive
93160,Hypocalcemic vitamin D-resistant rickets,Disease,Disorder,5C63.21,0019642,E83.3,277440,C3536983,,,,Hypocalcemic vitamin D-resistant rickets,"Infancy, Neonatal",Autosomal recessive
93164,Transient pseudohypoaldosteronism,Disease,Disorder,GB90.4Y,0019643,N15.8,,C4273962,,,,Transient pseudohypoaldosteronism,Infancy,Not applicable
93114,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,Disease,Disorder,8C20.2,0013758,G60.0,614455,C4302667,,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,No data available,"Autosomal dominant, Not applicable"
93111,HNF1B-related autosomal dominant tubulointerstitial kidney disease,Clinical subtype,Subtype of disorder,5A13.6,0007669,N11.8,137920,C0431693,C535520,,,HNF1B-related autosomal dominant tubulointerstitial kidney disease,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
93126,Pauci-immune glomerulonephritis,Disease,Disorder,MF84,0019641,N05.7,,C0343196,,,,Pauci-immune glomerulonephritis,"Adolescent, Adult, Childhood, Elderly",Not applicable
93177,Congenital bilateral megacalycosis,Clinical subtype,Subtype of disorder,LB31.Y,0019647,Q63.8,,C5681455,,,,,,
93178,OBSOLETE: Partial prune belly syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
93172,"Renal dysplasia, unilateral",Clinical subtype,Subtype of disorder,LB30.1,0019644,Q61.4,,C0431697,,,,"Renal dysplasia, unilateral",All ages,"Autosomal dominant, Not applicable"
93173,"Renal dysplasia, bilateral",Clinical subtype,Subtype of disorder,LB30.1,0019645,Q61.4,,C0431698,,,,"Renal dysplasia, bilateral",All ages,"Autosomal dominant, Not applicable"
93176,Unilateral congenital megacalycosis,Clinical subtype,Subtype of disorder,LB31.Y,0019646,Q63.8,,C5681456,,,,,,
93207,OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
93209,OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
93213,OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
93206,OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
93322,Isolated tibial hemimelia,Morphological anomaly,Disorder,LB9A.1,0010144,Q72.5,275220,C5925046,C535563,,8707,Isolated tibial hemimelia,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
93321,Isolated radial hemimelia,Morphological anomaly,Disorder,LB99.2,0019671,Q71.4,,C5925047,,,225,Isolated radial hemimelia,"Antenatal, Infancy, Neonatal","Multigenic/multifactorial, X-linked recessive"
93320,Isolated ulnar hemimelia,Morphological anomaly,Disorder,LB99.3,0019670,Q71.5,,C5925048,,,,Isolated ulnar hemimelia,"Infancy, Neonatal",
93325,Autosomal dominant Kenny-Caffey syndrome,Etiological subtype,Subtype of disorder,LD24.D,0007478,Q87.1,127000,C5681457,,,83,Autosomal dominant Kenny-Caffey syndrome,Childhood,Autosomal dominant
93324,Autosomal recessive Kenny-Caffey syndrome,Etiological subtype,Subtype of disorder,LD24.D,0009486,Q87.1,244460,C1855648,C537021,,8367,Autosomal recessive Kenny-Caffey syndrome,Childhood,Autosomal recessive
93323,Isolated fibular hemimelia,Morphological anomaly,Disorder,LB9A.2,0019672,Q72.6,,C5925049,,,8659,Isolated fibular hemimelia,Antenatal,Not applicable
93329,Autosomal recessive omodysplasia,Clinical subtype,Subtype of disorder,LD24.A,0009779,Q78.8,258315,C1850318,C537746,,4076,Autosomal recessive omodysplasia,"Infancy, Neonatal",Autosomal recessive
93328,Autosomal dominant omodysplasia,Clinical subtype,Subtype of disorder,LD24.A,0008123,Q78.8,164745,C2750355,C567664,,3643,Autosomal dominant omodysplasia,"Infancy, Neonatal",Autosomal dominant
93336,Polydactyly of a triphalangeal thumb,Morphological anomaly,Disorder,LD26.2,0008270,Q69.1,174500,C1868114,,,5289,Polydactyly of a triphalangeal thumb,,Autosomal dominant
93335,Postaxial polydactyly type B,Morphological anomaly,Disorder,LB78.2,0019674,Q69.0,174200,C1868120,,,,Postaxial polydactyly type B,Antenatal,Autosomal dominant
93334,Postaxial polydactyly type A,Morphological anomaly,Disorder,LB78.2,0019673,Q69.0,615226,C3887487,,,,Postaxial polydactyly type A,Antenatal,Autosomal recessive
93333,Pelviscapular dysplasia,Malformation syndrome,Disorder,,0009845,Q87.5,260660,C1850040,C535550,,1555,Pelviscapular dysplasia,"Infancy, Neonatal",Autosomal recessive
93339,Polydactyly of a biphalangeal thumb and/or hallux,Morphological anomaly,Disorder,LB78.0,,Q69.1,174400,C1395852,C536332,,,Polydactyly of a biphalangeal thumb and/or hallux,"Infancy, Neonatal",Autosomal dominant
93337,Polydactyly of an index finger,Morphological anomaly,Disorder,LB78.Y,0008271,Q69.0,174600,C1868113,C566784,,2256,Polydactyly of an index finger,"Infancy, Neonatal",Autosomal dominant
527276,Encephalopathy due to mitochondrial and peroxisomal fission defect,Disease,Disorder,5C5Y,0054865,E88.8,617086,C5681458,,,,Encephalopathy due to mitochondrial and peroxisomal fission defect,"Childhood, Infancy, Neonatal",
93338,Polysyndactyly,Morphological anomaly,Disorder,LB78.1,,Q70.4,174700,C0265553,,10063143,9903,Polysyndactyly,"Infancy, Neonatal",Autosomal dominant
93349,X-linked spondyloepimetaphyseal dysplasia,Disease,Disorder,LD24.3,0010248,Q77.7,300106,C1848097,C564714,,4979,X-linked spondyloepimetaphyseal dysplasia,,X-linked recessive
93346,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",Disease,Disorder,LD24.3,0008476,Q77.7,184250,C0700635,C537501,,134,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type","Infancy, Neonatal",Autosomal dominant
93347,Anauxetic dysplasia,Disease,Disorder,LD24.3,0011773,Q77.7,617396,C1846796,C538256,,9657,Anauxetic dysplasia,"Antenatal, Neonatal",Autosomal recessive
93356,"Spondyloepimetaphyseal dysplasia, Missouri type",Disease,Disorder,LD24.3,0011198,Q77.7,602111,C1865832,C566574,,10618,"Spondyloepimetaphyseal dysplasia, Missouri type","Childhood, Infancy",Autosomal dominant
93351,"Spondyloepimetaphyseal dysplasia, Irapa type",Disease,Disorder,LD24.3,0010076,Q77.7,271650,C0432213,C562958,,,"Spondyloepimetaphyseal dysplasia, Irapa type",Childhood,Autosomal recessive
93352,"Spondyloepimetaphyseal dysplasia, Shohat type",Disease,Disorder,LD24.3,0011252,Q77.7,602557,C1865185,C566523,,4980,"Spondyloepimetaphyseal dysplasia, Shohat type","Antenatal, Infancy, Neonatal",Autosomal recessive
93284,Spondyloepiphyseal dysplasia tarda,Disease,Disorder,LD24.3,0019667,Q77.7,313400,,,,10624,Spondyloepiphyseal dysplasia tarda,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive, X-linked recessive"
93292,Adenoma of pancreas,Disease,Disorder,2E92.8,0019668,D13.6,,C1142432,C538110,10058902,4204,Adenoma of pancreas,"Adult, Elderly",
93293,Okihiro syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011812,Q87.8,607323,C1623209,,,9182,Okihiro syndrome,Neonatal,Autosomal dominant
93296,Achondrogenesis type 2,Clinical subtype,Subtype of disorder,LD24.50,0008702,Q77.0,200610,C0220685,C536017,,,Achondrogenesis type 2,"Antenatal, Neonatal",Autosomal dominant
93298,Achondrogenesis type 1B,Clinical subtype,Subtype of disorder,LD24.50,0010966,Q77.0,600972,C0265274,C536016,,,Achondrogenesis type 1B,"Antenatal, Neonatal",Autosomal recessive
93297,Hypochondrogenesis,Clinical subtype,Subtype of disorder,LD24.51,0019669,Q77.0,200610,C0542428,C563007,,,Hypochondrogenesis,"Infancy, Neonatal",Autosomal dominant
93299,Achondrogenesis type 1A,Clinical subtype,Subtype of disorder,LD24.50,0008701,Q77.0,200600,C0265273,C536015,,,Achondrogenesis type 1A,"Antenatal, Neonatal",Autosomal recessive
93302,"Brachyolmia, Maroteaux type",Malformation syndrome,Disorder,LD24.5Y,0013360,Q76.3,613678,C5399913,C563218,,,"Brachyolmia, Maroteaux type",Childhood,Autosomal recessive
93301,"Brachyolmia type 1, Hobaek type",Malformation syndrome,Disorder,,,,271530,,,,,,,
93303,"Brachyolmia type 1, Toledo type",Malformation syndrome,Disorder,,,,271630,,,,,,,
93304,Autosomal dominant brachyolmia,Malformation syndrome,Disorder,LD24.5Y,0007232,Q76.3,113500,C0432227,C562963,,10429,Autosomal dominant brachyolmia,Childhood,Autosomal dominant
93307,Multiple epiphyseal dysplasia type 4,Disease,Disorder,LD24.61,0009189,Q77.3,226900,C1847593,C535504,,9793,Multiple epiphyseal dysplasia type 4,Childhood,Autosomal recessive
93308,Multiple epiphyseal dysplasia type 1,Disease,Disorder,LD24.61,0007561,Q77.3,132400,C1838280,C535501,,2180,Multiple epiphyseal dysplasia type 1,Childhood,Autosomal dominant
93311,Multiple epiphyseal dysplasia type 5,Disease,Disorder,LD24.61,0011765,Q77.3,607078,C1846843,C535505,,9794,Multiple epiphyseal dysplasia type 5,Childhood,Autosomal dominant
93313,"OBSOLETE: Multiple epiphyseal dysplasia, unclassified type",Disease,Disorder,,,,,,,,,,,
93314,"Spondylometaphyseal dysplasia, Kozlowski type",Disease,Disorder,LD24.4,0008477,Q77.8,184252,C0265280,C535797,,3047,"Spondylometaphyseal dysplasia, Kozlowski type",Infancy,Autosomal dominant
93315,"Spondylometaphyseal dysplasia, 'corner fracture' type",Disease,Disorder,LD24.4,0008479,Q77.8,184255,C0432221,C535793,,4991,"Spondylometaphyseal dysplasia, 'corner fracture' type","Childhood, Infancy, Neonatal",Autosomal dominant
93316,"Spondylometaphyseal dysplasia, Schmidt type",Disease,Disorder,LD24.4,0008478,Q77.8,184253,C1866688,C535794,,504,"Spondylometaphyseal dysplasia, Schmidt type","Adolescent, Childhood, Infancy",Autosomal dominant
93317,"Spondylometaphyseal dysplasia, Sedaghatian type",Malformation syndrome,Disorder,LD24.5Y,0009593,Q77.8,250220,C1855229,C535798,,4993,"Spondylometaphyseal dysplasia, Sedaghatian type","Antenatal, Neonatal",Autosomal recessive
90692,Rare endocrine growth disease,Category,Group of disorders,,,,,C5681460,,,,,,
529962,17q24.2 microdeletion syndrome,Malformation syndrome,Disorder,,0035151,Q93.5,,C5680185,,,,17q24.2 microdeletion syndrome,"Antenatal, Neonatal",Not applicable
529864,Secondary erythromelalgia,Disease,Disorder,EG00,0035149,I73.8,,C0543820,,,,Secondary erythromelalgia,All ages,
529852,Combined hepatocellular carcinoma and cholangiocarcinoma,Disease,Disorder,2C12.00,0044791,C22.1,,C0221287,,,,Combined hepatocellular carcinoma and cholangiocarcinoma,"Adult, Elderly",
90673,Hypothyroidism due to TSH receptor mutations,Disease,Disorder,5A00.01,0010142,E03.1,275200,C3493776,C576976,,,Hypothyroidism due to TSH receptor mutations,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
90674,Isolated thyroid-stimulating hormone deficiency,Disease,Disorder,5A00.01,0010139,E03.1,275100,C4082174,C000610012,,10129,Isolated thyroid-stimulating hormone deficiency,"Infancy, Neonatal",Autosomal recessive
529831,Letrozole toxicity,Particular clinical situation in a disease or syndrome,Disorder,NE60,0035350,T88.7,,C5681461,,,,Letrozole toxicity,All ages,
529819,NON RARE IN EUROPE: Exfoliation syndrome,Disease,Disorder,,,,,,,,,,,
529808,Chronic bilirubin encephalopathy,Clinical syndrome,Disorder,,0035345,P57.8,,C5575229,,,,Chronic bilirubin encephalopathy,"Infancy, Neonatal",Not applicable
90658,Charcot-Marie-Tooth disease type 1E,Disease,Disorder,8C20.0,0007311,G60.0,118300,C2931686,C537986,,9190,Charcot-Marie-Tooth disease type 1E,"Childhood, Infancy",Autosomal dominant
529799,Acute bilirubin encephalopathy,Clinical syndrome,Disorder,,0035344,P57.8,,C5671282,,,,Acute bilirubin encephalopathy,Neonatal,
90791,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,Disease,Disorder,5A71.01,0008727,E25.0,201810,C0342471,C538236,,9152,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
90790,Congenital lipoid adrenal hyperplasia due to STAR deficency,Disease,Disorder,5A71.01,0008725,E25.0,201710,C0342474,C537027,,1465,Congenital lipoid adrenal hyperplasia due to STAR deficency,"Childhood, Infancy, Neonatal",Autosomal recessive
90787,"46,XY difference of sex development due to testicular steroidogenesis defect",Category,Group of disorders,,,,,C5680186,,,,,,
90786,"46,XY difference of sex development due to adrenal and testicular steroidogenesis defect",Category,Group of disorders,,,,,C5680187,,,,,,
90783,"46,XY difference of sex development due to a testosterone synthesis defect",Category,Group of disorders,,,,,C5680188,,,,,,
90776,"46,XX difference of sex development induced by fetal androgens excess",Category,Group of disorders,,,,,C5680189,,,,,,
90771,Difference of sex development,Category,Group of disorders,,0002145,,,C0036875,D012734,10070597,,,,
529980,Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome,Disease,Disorder,4A01.2Y,0033969,D89.8,,C5568532,,,,Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome,Infancy,
530033,Dermoid or epidermoid cyst of the central nervous system,Morphological anomaly,Disorder,,0035159,Q07.8,,C5680190,,,,Dermoid or epidermoid cyst of the central nervous system,Adult,
529974,OBSOLETE:Immune dysregulation with inflammatory bowel disease,Clinical group,Group of disorders,,,,,C5681462,,,,,,
529977,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,Disease,Disorder,4A01.2Y,0033968,D89.8,618108,C5568533,,,,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,"Infancy, Neonatal",Autosomal recessive
90695,Non-acquired panhypopituitarism,Disease,Disorder,5A61.0,0019591,E23.0,312000,C5680191,,10033662,,Non-acquired panhypopituitarism,All ages,"Autosomal recessive, X-linked recessive"
529965,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,Malformation syndrome,Disorder,,0060568,Q87.0,617682,C4540131,,10090383,,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,Infancy,Autosomal dominant
529970,Male infertility due to acephalic spermatozoa,Clinical subtype,Subtype of disorder,,0035153,N46,617187,,,,,Male infertility due to acephalic spermatozoa,Adult,Autosomal recessive
90400,Scleromyxedema without monoclonal gammopathy,Clinical subtype,Subtype of disorder,EB90.11,0019585,L98.5,,C5681463,,,,Scleromyxedema without monoclonal gammopathy,"Adolescent, Adult, Elderly",
90625,Rare X-linked non-syndromic sensorineural deafness type DFN,Etiological subtype,Subtype of disorder,AB50,0019586,H90.3,304500,C5680192,,,,Rare X-linked non-syndromic sensorineural deafness type DFN,"Childhood, Infancy",X-linked recessive
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Etiological subtype,Subtype of disorder,AB50,0019587,H90.3,618094,C5779548,,,,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Childhood,Autosomal dominant
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,Etiological subtype,Subtype of disorder,AB50,0019588,H90.3,618410,C5779549,,,,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,"Infancy, Neonatal",Autosomal recessive
90396,Acral persistent papular mucinosis,Disease,Disorder,EB90.1Y,0019581,L98.5,,C0406660,,,,,,
529468,Monoclonal mast cell activation syndrome,Disease,Disorder,,0033954,C94.3,,C4267893,,,12980,Monoclonal mast cell activation syndrome,All ages,
90397,Self-healing papular mucinosis,Disease,Disorder,EB90.1Y,0019582,L98.5,,C0406657,,,,Self-healing papular mucinosis,All ages,
529574,Duane retraction syndrome with congenital deafness,Malformation syndrome,Disorder,9C82.2,0035337,H50.8,617041,C5680193,,,,Duane retraction syndrome with congenital deafness,Neonatal,Autosomal dominant
90398,Localized lichen myxedematosus with mixed features of different subtypes,Clinical subtype,Subtype of disorder,EB90.11,0019583,L98.5,,C5681465,,,,Localized lichen myxedematosus with mixed features of different subtypes,"Adult, Elderly",
90399,Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,Clinical subtype,Subtype of disorder,EB90.11,0019584,L98.5,,C5681466,,,,Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,"Adult, Elderly",
90393,Nodular lichen myxedematosus,Disease,Disorder,,0019578,L98.5,,C4273968,,,,,,
90394,Discrete papular lichen myxedematosus,Disease,Disorder,,0019579,L98.5,,C4273967,,,,,,
90395,Papular mucinosis of infancy,Disease,Disorder,,0019580,L98.5,,C4273966,,,,,,
90368,Hypotrichosis simplex of the scalp,Disease,Disorder,EC21.2,0019575,L65.8,146520,C1840299,C564143,,,Hypotrichosis simplex of the scalp,Childhood,Autosomal dominant
90389,Telangiectasia macularis eruptiva perstans,Clinical subtype,Subtype of disorder,2A21.1Y,0019576,Q82.2,,C0263402,C000715747,10043192,,Telangiectasia macularis eruptiva perstans,,Unknown
90390,Anonychia-onychodystrophy syndrome,Clinical subtype,Subtype of disorder,,0019577,Q84.3,614149,C1862840,C536378,,710,Anonychia-onychodystrophy syndrome,,"Autosomal dominant, Autosomal recessive"
90653,Stickler syndrome type 1,Clinical subtype,Subtype of disorder,LD2F.1Y,0007160,Q87.5,609508,C2020284,C537492,,,Stickler syndrome type 1,"Childhood, Infancy, Neonatal",Autosomal dominant
90652,Otopalatodigital syndrome type 2,Malformation syndrome,Disorder,LD25.1,0010571,Q87.0,304120,C1844696,C538089,,5802,Otopalatodigital syndrome type 2,"Antenatal, Neonatal",X-linked dominant
90654,Stickler syndrome type 2,Clinical subtype,Subtype of disorder,LD2F.1Y,0011493,Q87.5,604841,C1858084,C537493,,,Stickler syndrome type 2,"Childhood, Infancy, Neonatal",Autosomal dominant
529665,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,Malformation syndrome,Disorder,,0060627,Q87.8,617810,C4540520,,,,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,Infancy,Autosomal recessive
90647,Jervell and Lange-Nielsen syndrome,Disease,Disorder,BC65.0,0002441,I45.8,612347,C0022387,D029593,10057936,3048,Jervell and Lange-Nielsen syndrome,Neonatal,Autosomal recessive
90650,Otopalatodigital syndrome type 1,Malformation syndrome,Disorder,LD25.1,0010704,Q87.0,311300,C0265251,C536065,,5121,Otopalatodigital syndrome type 1,"Antenatal, Infancy, Neonatal",X-linked dominant
90649,Orofaciodigital syndrome type 7,Malformation syndrome,Disorder,,,,608518,C0796100,,,,,,
90646,Deafness-hypogonadism syndrome,Malformation syndrome,Disorder,LD2H.Y,0010575,H90.6,304350,C1844680,C564435,,1691,Deafness-hypogonadism syndrome,"Infancy, Neonatal",
90642,Rare syndromic genetic deafness,Category,Group of disorders,LD2H,,,,C0395976,,,,,,
90641,Rare mitochondrial non-syndromic sensorineural deafness,Etiological subtype,Subtype of disorder,8C73.Y,0010779,H90.3,500008,C5780045,,,,Rare mitochondrial non-syndromic sensorineural deafness,"Childhood, Infancy",Mitochondrial inheritance
91387,Familial thoracic aortic aneurysm and aortic dissection,Disease,Disorder,LD28.0Y,0019625,I71.2,616166,C4707243,,,2249,Familial thoracic aortic aneurysm and aortic dissection,"Adolescent, Adult, Childhood",Autosomal dominant
91396,Isolated cryptophthalmia,Morphological anomaly,Disorder,LA14.01,0007410,Q11.2,123570,C4305274,,,,Isolated cryptophthalmia,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
91378,Hereditary angioedema,Clinical group,Group of disorders,4A00.14,0019623,,610618,C0019243,D054179,10019860,5979,Hereditary angioedema,All ages,Autosomal dominant
91385,Acquired angioedema,Clinical group,Group of disorders,4A00.15,0019624,,300909,C2931758,C538173,10081035,8605,Acquired angioedema,Adult,Not applicable
91412,Marcus-Gunn syndrome,Disease,Disorder,9A03.00,0007946,Q07.8,154600,C0266521,C535908,10064583,6972,Marcus-Gunn syndrome,"Infancy, Neonatal",Autosomal dominant
91413,Congenital Horner syndrome,Disease,Disorder,8D8A.1,0007735,G90.2,143000,C1840475,C564178,10074554,6670,,,
91397,Isolated ankyloblepharon filiforme adnatum,Morphological anomaly,Disorder,LA14.07,0019626,Q10.3,,C1302999,C536373,,,Isolated ankyloblepharon filiforme adnatum,"Infancy, Neonatal","Autosomal dominant, Not applicable"
91411,Congenital ptosis,Disease,Disorder,LA14.04,,Q10.0,616219,C0266573,,10015996,,Congenital ptosis,"Infancy, Neonatal","Autosomal dominant, X-linked recessive"
91357,Duplication of the esophagus,Clinical group,Group of disorders,,,,,C0266135,,,,,,
91354,Pituitary deficiency due to empty sella turcica syndrome,Disease,Disorder,5A61.0,0019617,E23.0,,C4275064,,,,Pituitary deficiency due to empty sella turcica syndrome,"Adult, Elderly",
91355,Sheehan syndrome,Malformation syndrome,Disorder,5A61.0,0019618,E23.0,,C0242342,,10036297,7630,Sheehan syndrome,Adult,
91364,Non-specific interstitial pneumonia,Disease,Disorder,CB03.Y,0019622,J84.8,,C1290344,,,,,,
91365,OBSOLETE: Secondary ciliary dyskinesia,Disease,Disorder,,,,,,,,,,,
91358,Congenital esophageal diverticulum,Morphological anomaly,Disorder,LB12.4,0019620,Q39.6,,C0266133,,,,,,
91359,Chronic pneumonitis of infancy,Disease,Disorder,CB04.6,0019621,J84.0,,C3872848,,,,Chronic pneumonitis of infancy,"Infancy, Neonatal",Not applicable
91496,Snowflake vitreoretinal degeneration,Disease,Disorder,9B70,0008663,H35.5,193230,C1860405,C536677,,9706,Snowflake vitreoretinal degeneration,Adult,Autosomal dominant
91495,Persistent hyperplastic primary vitreous,Disease,Disorder,LA13.Y,0019631,Q14.0,611308,C0266568,D054514,,,Persistent hyperplastic primary vitreous,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
91494,Macular coloboma-cleft palate-hallux valgus syndrome,Malformation syndrome,Disorder,,0009001,Q87.8,216800,C4302525,,,,Macular coloboma-cleft palate-hallux valgus syndrome,Neonatal,Autosomal recessive
91492,Early onset non-syndromic cataract,Disease,Disorder,LA12.1,0011060,Q12.0,601885,C5925050,,,,Early onset non-syndromic cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
91546,Lyme disease,Disease,Disorder,1C1G,0019632,A69.2,,C0024198,D008193,10025169,,Lyme disease,All ages,Not applicable
91500,Tubulointerstitial nephritis and uveitis syndrome,Disease,Disorder,9A96.1,0011885,N10,607665,C1843273,C536922,10069034,9252,Tubulointerstitial nephritis and uveitis syndrome,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
91498,Familial congenital palsy of trochlear nerve,Disease,Disorder,9C81.1,0007626,H49.1,136480,C1850996,C565007,,,Familial congenital palsy of trochlear nerve,Neonatal,
91481,Ring dermoid of cornea,Disease,Disorder,2F36.Y,0008387,D31.1,180550,C1867155,C535684,,9696,Ring dermoid of cornea,"Infancy, Neonatal",Autosomal dominant
91416,Isolated congenital alacrima,Disease,Disorder,,0019627,Q10.6,601549,C4273963,,,,Isolated congenital alacrima,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
91415,OBSOLETE: Familial capillary hemangioma,Disease,Disorder,,,,,,,,,,,
91414,Pilomatrixoma,Disease,Disorder,2F22,0007564,D23.6,132600,C0206711,D018296,10035040,9452,Pilomatrixoma,"Adolescent, Adult, Childhood",Not applicable
91491,Congenital ectropion uveae,Malformation syndrome,Disorder,LA14.03,0019630,Q13.8,,C1303012,,,,Congenital ectropion uveae,Neonatal,
91490,Isolated congenital sclerocornea,Morphological anomaly,Disorder,LA11.1,0019629,Q13.3,181700,C0344533,,,,Isolated congenital sclerocornea,,Autosomal dominant
91489,Isolated congenital megalocornea,Morphological anomaly,Disorder,LA11.1,0010649,Q15.8,309300,C4518341,,,12648,Isolated congenital megalocornea,,X-linked recessive
91483,Rieger anomaly,Morphological anomaly,Disorder,LA11.2,0019628,Q13.8,602482,C0265341,,10059198,,Rieger anomaly,Neonatal,Autosomal dominant
91127,Adenovirus infection in immunocompromised patients,Particular clinical situation in a disease or syndrome,Disorder,1D90,,B34.0,,C5681468,,,,Adenovirus infection in immunocompromised patients,All ages,Not applicable
91128,OBSOLETE: Graft rejection after lung transplantation,Particular clinical situation in a disease or syndrome,Disorder,,,,,,,,,,,
91129,Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
91130,Cardiomyopathy-hypotonia-lactic acidosis syndrome,Disease,Disorder,5C53.30,0012557,G71.3,610773,C4305259,,,,Cardiomyopathy-hypotonia-lactic acidosis syndrome,Neonatal,Autosomal recessive
91131,DK1-CDG,Disease,Disorder,5C54.2,0012556,E77.8,610768,C1835849,C563666,,12393,DK1-CDG,"Infancy, Neonatal",Autosomal recessive
91132,Ichthyosis-hypotrichosis syndrome,Disease,Disorder,LD27.2,0011218,Q80.8,602400,C4510566,,,10116,Ichthyosis-hypotrichosis syndrome,"Infancy, Neonatal",Autosomal recessive
91133,OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
90793,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,Disease,Disorder,5A71.01,0008730,E25.0,202110,C0268285,C538237,,1469,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,"Infancy, Neonatal",Autosomal recessive
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Disease,Disorder,5A71.01,0008728,E25.0,201910,C4273964,,,12665,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
90795,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,Disease,Disorder,5A71.01,0008729,E25.0,202010,C0268292,C535978,10000002,5658,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,"Infancy, Neonatal",Autosomal recessive
90796,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",Disease,Disorder,LD2A.3,0019597,E29.1,202110,C5681470,,,,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",Neonatal,Autosomal recessive
90797,Partial androgen insensitivity syndrome,Disease,Disorder,LD2A.4,0010720,E34.5,312300,C0268301,,,5692,Partial androgen insensitivity syndrome,All ages,X-linked recessive
90970,Primary lipodystrophy,Category,Group of disorders,,,,,C5681471,,,,Primary lipodystrophy,All ages,
91024,Autosomal recessive axonal hereditary motor and sensory neuropathy,Clinical group,Group of disorders,8C20.1,,,,C5680194,,,,Autosomal recessive axonal hereditary motor and sensory neuropathy,,Autosomal recessive
91088,Other metabolic disease,Category,Group of disorders,,,,,,,,,,,
91347,TSH-secreting pituitary adenoma,Disease,Disorder,2F37.Y,0019611,D35.2,,C0346303,,,,TSH-secreting pituitary adenoma,"Adolescent, Adult, Childhood, Elderly",
91349,Non-functioning pituitary adenoma,Disease,Disorder,2F37.0,0019613,D35.2,,C0338078,,10029556,,Non-functioning pituitary adenoma,"Adolescent, Adult, Childhood",Not applicable
91348,Functioning gonadotropic adenoma,Disease,Disorder,2F37.Y,0019612,D35.2,,C0346304,,,,Functioning gonadotropic adenoma,Adult,
91351,Pituitary dermoid and epidermoid cysts,Disease,Disorder,5A61.0,0019615,E23.0,,C5190781,,,,Pituitary dermoid and epidermoid cysts,"Adult, Elderly",
91350,Pituitary deficiency due to Rathke cleft cysts,Disease,Disorder,5A61.0,0019614,E23.0,,C5190782,,,,Pituitary deficiency due to Rathke cleft cysts,All ages,
91353,OBSOLETE: Choristoma,Disease,Disorder,,,,,,,,,,,
91352,Germinoma of the central nervous system,Clinical subtype,Subtype of disorder,2A00.1Y,,C72.9,,C1333813,,10065852,,Germinoma of the central nervous system,"Adolescent, Adult, Childhood",Not applicable
91136,Acquired monoclonal Ig light chain-associated Fanconi syndrome,Disease,Disorder,GB90.42,0019604,E72.0,,C4510369,,,,Acquired monoclonal Ig light chain-associated Fanconi syndrome,"Adult, Elderly",Not applicable
91135,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,Disease,Disorder,,0012570,D68.4,610842,C4049241,,10076864,,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,"Adolescent, Childhood","Autosomal recessive, Unknown"
91138,Cryoglobulinemic vasculitis,Disease,Disorder,4A44.90,0007407,D89.1,123550,C0340992,,10027756,6386,Cryoglobulinemic vasculitis,All ages,Not applicable
91137,Immunotactoid or fibrillary glomerulopathy,Clinical group,Group of disorders,,0019605,,,C5680195,,,12741,Immunotactoid or fibrillary glomerulopathy,Adult,Not applicable
91140,Unspecified juvenile idiopathic arthritis,Disease,Disorder,FA24.Y,0019607,M08.8,,C5680196,,,,Unspecified juvenile idiopathic arthritis,"Childhood, Infancy",
91139,Simple cryoglobulinemia,Disease,Disorder,4B22,0019606,D89.1,,C4510006,,,6217,Simple cryoglobulinemia,"Adult, Elderly",
528623,Hereditary angioedema with C1Inh deficiency,Disease,Disorder,4A00.14,0033946,D84.1,619360,C4552294,,10080955,,Hereditary angioedema with C1Inh deficiency,"Adult, Elderly",Not applicable
91144,"46,XX difference of sex development induced by maternal-derived androgen",Category,Group of disorders,5A71.1,,,,C5680197,,,,,,
528647,Hereditary angioedema with normal C1Inh,Disease,Disorder,4A00.14,0033947,T78.3,,C1960459,,10080953,,Hereditary angioedema with normal C1Inh,,Not applicable
528663,Acquired angioedema with C1Inh deficiency,Disease,Disorder,4A00.15,0033948,D84.1,,C5848086,,,,Acquired angioedema with C1Inh deficiency,,Not applicable
79384,Rare urticaria,Category,Group of disorders,,,,,C5681472,,,,,,
79385,Unclassified genetic skin disorder,Category,Group of disorders,,,,,C5681473,,,,,,
79382,Subcutaneous tissue disease,Category,Group of disorders,,0019296,,,C1290008,,,,,,
79383,OBSOLETE: Lymphedema,Category,Group of disorders,,,,,,,,,,,
79388,Mucopolysaccharidosis with skin involvement,Category,Group of disorders,,,,,C5680198,,,,,,
79389,Premature aging,Category,Group of disorders,,0019303,,,C0231341,D019588,10063493,,,,
79386,Rare skin tumor or hamartoma,Category,Group of disorders,,,,,C5681474,,,,,,
79387,Metabolic disease with skin involvement,Category,Group of disorders,,,,,C5681475,,,,,,
79390,Rare photodermatosis,Category,Group of disorders,,,,,C5680199,,,,,,
79391,Immune deficiency with skin involvement,Category,Group of disorders,,,,,C5681476,,,,,,
79396,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form",Disease,Disorder,EC30,,Q81.0,619555,C0079295,,,2141,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form",Neonatal,Autosomal dominant
79397,Epidermolysis bullosa simplex with mottled pigmentation,Disease,Disorder,EC30,0007556,Q81.0,131960,C0432316,C535959,,9737,Epidermolysis bullosa simplex with mottled pigmentation,"Infancy, Neonatal",Autosomal dominant
79394,Congenital ichthyosiform erythroderma,Disease,Disorder,EC20.02,0019306,Q80.2,617574,C0079154,,,,Congenital ichthyosiform erythroderma,"Infancy, Neonatal",Autosomal recessive
79395,Keratoderma hereditarium mutilans with ichthyosis,Disease,Disorder,EC20.30,0011396,Q82.8,604117,C1858805,,,,Keratoderma hereditarium mutilans with ichthyosis,"Infancy, Neonatal",Autosomal dominant
79369,Isolated nail anomaly,Category,Group of disorders,,,,,C5681477,,,,,,
79368,Nail anomaly,Category,Group of disorders,,0019283,,,C0265997,,10028684,,,,
79367,Syndromic hair shaft abnormality,Category,Group of disorders,,,,,C5681478,,,,,,
79366,Isolated hair shaft abnormality,Category,Group of disorders,,,,,C5681479,,,,,,
79373,Ectodermal dysplasia syndrome,Category,Group of disorders,LD27.0,0019287,,,C0013575,D004476,10010452,6317,Ectodermal dysplasia syndrome,"Infancy, Neonatal",
79372,Sebaceous gland anomaly,Category,Group of disorders,,,,,C1387995,,,,,,
79370,Syndromic nail anomaly,Category,Group of disorders,,,,,C5681480,,,,,,
79377,Dermis disorder,Category,Group of disorders,,,,,C5681481,,,,,,
79376,Hypopigmentation of the skin,Category,Group of disorders,,0019290,,,C0162835,D017496,10040868,,,,
79375,Hyperpigmentation of the skin,Category,Group of disorders,,0019289,,,C0162834,D017495,10040865,,,,
79374,Pigmentation anomaly of the skin,Category,Group of disorders,,0019288,,,C5681482,,,,,,
79381,Other dermis disorder,Category,Group of disorders,,,,,C5681483,,,,,,
79380,Mixed dermis disorder,Category,Group of disorders,,0019294,,,C5681484,,,,,,
79379,Skin vascular disease,Category,Group of disorders,,0019293,,,C0162819,D017445,10062171,,,,
79378,Dermis elastic tissue disorder,Category,Group of disorders,,,,,C5681485,,,,,,
79414,Woolly hair nevus,Disease,Disorder,LC01,0019311,D23.4,162900,C0343114,,,13025,Woolly hair nevus,"Infancy, Neonatal",Not applicable
79428,OBSOLETE: Familial segmental neurofibromatosis,Clinical subtype,Subtype of disorder,,,,,,,,,,,
79429,OBSOLETE: Familial spinal neurofibromatosis,Clinical subtype,Subtype of disorder,,,,,,,,,,,
79399,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form",Disease,Disorder,EC30,0007554,Q81.0,131900,C0079299,,,2147,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","Infancy, Neonatal","Autosomal dominant, Not applicable"
79401,PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,Disease,Disorder,EC30,0007555,Q81.0,131950,C0432317,C535962,,2148,PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,"Infancy, Neonatal",Autosomal dominant
79400,Localized epidermolysis bullosa simplex,Disease,Disorder,EC30,,Q81.0,619594,C0080333,,,2146,Localized epidermolysis bullosa simplex,Childhood,Autosomal dominant
79403,Junctional epidermolysis bullosa with pyloric atresia,Disease,Disorder,EC31,0009183,Q81.8,226730,C1856934,C535377,,,Junctional epidermolysis bullosa with pyloric atresia,"Antenatal, Neonatal",Autosomal recessive
79402,Intermediate generalized junctional epidermolysis bullosa,Disease,Disorder,,0019307,Q81.8,619816,C0432326,,,,Intermediate generalized junctional epidermolysis bullosa,Neonatal,Autosomal recessive
79405,Junctional epidermolysis bullosa inversa,Disease,Disorder,EC31,0019308,Q81.8,226650,C2673609,,,,Junctional epidermolysis bullosa inversa,"Infancy, Neonatal",Autosomal recessive
79404,Severe generalized junctional epidermolysis bullosa,Disease,Disorder,EC31,0009182,Q81.1,226700,C0079683,,,,Severe generalized junctional epidermolysis bullosa,"Infancy, Neonatal",Autosomal recessive
79407,"Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type",Clinical subtype,Subtype of disorder,,,,,,,,,,,
79406,Late-onset junctional epidermolysis bullosa,Disease,Disorder,EC31,0019309,Q81.8,619787,C4304724,,,,Late-onset junctional epidermolysis bullosa,"Adolescent, Adult, Childhood",Autosomal recessive
79409,Recessive dystrophic epidermolysis bullosa inversa,Disease,Disorder,EC32,0019310,Q81.2,226600,C1275113,,,,Recessive dystrophic epidermolysis bullosa inversa,"Infancy, Neonatal",Autosomal recessive
79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",Disease,Disorder,EC32,0009179,Q81.2,226600,C4510043,,,6308,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",Neonatal,Autosomal recessive
79411,Self-improving dystrophic epidermolysis bullosa,Disease,Disorder,EC32,0007548,Q81.2,131705,C1851573,C536979,,10010,Self-improving dystrophic epidermolysis bullosa,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
79410,"Localized dystrophic epidermolysis bullosa, pretibial form",Clinical subtype,Subtype of disorder,EC32,0007552,Q81.2,131850,C0432321,,,2155,"Localized dystrophic epidermolysis bullosa, pretibial form","Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
79452,Milroy disease,Disease,Disorder,BD93.0,,Q82.0,611944,C1704423,,,7220,Milroy disease,"Antenatal, Infancy, Neonatal",Autosomal dominant
79450,Non-hereditary congenital primary lymphedema,Disease,Disorder,,,,,,,,,,,
79446,"Multiple pterygium syndrome, Aslan type",Etiological subtype,Subtype of disorder,,,,,,,,,,,
79447,X-linked lethal multiple pterygium syndrome,Malformation syndrome,Disorder,LD26.40,0010716,Q79.8,312150,C4706472,,,4573,X-linked lethal multiple pterygium syndrome,"Antenatal, Neonatal","X-linked dominant, X-linked recessive"
79458,Oley syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
79459,OBSOLETE: Follicular atrophoderma-basal cell carcinoma,Clinical subtype,Subtype of disorder,,,,,,,,,,,
79456,Diffuse cutaneous mastocytosis,Disease,Disorder,2A21.1Y,0019315,Q82.2,,C0024901,,10012812,12686,Diffuse cutaneous mastocytosis,"Infancy, Neonatal",Not applicable
79457,Maculopapular cutaneous mastocytosis,Disease,Disorder,2A21.10,0019316,Q82.2,154800,C0042111,D014582,10046752,,Maculopapular cutaneous mastocytosis,All ages,Not applicable
79455,Cutaneous mastocytoma,Disease,Disorder,2A21.1Y,0019314,Q82.2,,C0343115,D054705,,12687,Cutaneous mastocytoma,All ages,Not applicable
79435,Oculocutaneous albinism type 4,Disease,Disorder,EC23.20,0011683,E70.3,606574,C1847836,C564696,,,Oculocutaneous albinism type 4,"Infancy, Neonatal",Autosomal recessive
79434,Oculocutaneous albinism type 1B,Clinical subtype,Subtype of disorder,EC23.20,0011749,E70.3,606952,C1847024,C537729,,594,Oculocutaneous albinism type 1B,"Infancy, Neonatal",Autosomal recessive
79433,Oculocutaneous albinism type 3,Disease,Disorder,EC23.20,0008747,E70.3,203290,C0342683,C537189,,4039,Oculocutaneous albinism type 3,"Infancy, Neonatal",Autosomal recessive
79432,Oculocutaneous albinism type 2,Disease,Disorder,EC23.20,0008746,E70.3,203200,C0268495,C537730,,4038,Oculocutaneous albinism type 2,"Infancy, Neonatal",Autosomal recessive
79431,Oculocutaneous albinism type 1A,Clinical subtype,Subtype of disorder,EC23.20,0008745,E70.3,203100,C4551504,,,,Oculocutaneous albinism type 1A,"Infancy, Neonatal",Autosomal recessive
79430,Hermansky-Pudlak syndrome,Disease,Disorder,EC23.20,0019312,E70.3,614171,C0079504,D022861,10071775,6643,Hermansky-Pudlak syndrome,"Infancy, Neonatal",Autosomal recessive
79445,Pseudopseudohypoparathyroidism,Disease,Disorder,5A50.1,0012912,E20.1,612463,C0033835,D011556,,7860,Pseudopseudohypoparathyroidism,All ages,Autosomal dominant
79444,Pseudohypoparathyroidism type 1C,Disease,Disorder,5A50.1,0012911,E20.1,612462,C2932716,C548076,,10681,Pseudohypoparathyroidism type 1C,"Childhood, Infancy, Neonatal",Autosomal dominant
79443,Pseudohypoparathyroidism type 1A,Disease,Disorder,5A50.1,0007078,E20.1,103580,C3494506,,,7486,Pseudohypoparathyroidism type 1A,"Childhood, Infancy, Neonatal",Autosomal dominant
79482,Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome,Malformation syndrome,Disorder,,,,304200,C0795848,,,,,,
79483,Phakomatosis cesioflammea,Clinical subtype,Subtype of disorder,LD2D.Y,0019325,Q85.8,,C3838883,,,,Phakomatosis cesioflammea,,Not applicable
79484,Phakomatosis cesiomarmorata,Clinical subtype,Subtype of disorder,LD2D.Y,0019326,Q85.8,,C3839296,,,,Phakomatosis cesiomarmorata,,Not applicable
79485,Phakomatosis spilorosea,Clinical subtype,Subtype of disorder,LD2D.Y,0019327,Q85.8,,C3839763,,,,Phakomatosis spilorosea,,Not applicable
79478,Griscelli syndrome type 3,Clinical subtype,Subtype of disorder,EC23.2Y,0012220,E70.3,609227,C1836573,C537303,,9715,Griscelli syndrome type 3,Childhood,Autosomal recessive
79479,Pemphigus vegetans,Disease,Disorder,EB40.0Y,0019322,L10.1,,C0263316,,10057053,,Pemphigus vegetans,All ages,
79480,Pemphigus erythematosus,Disease,Disorder,EB40.1,0019323,L10.4,,C0263312,,10058917,,Pemphigus erythematosus,"Adolescent, Adult, Childhood",
79481,Pemphigus foliaceus,Disease,Disorder,EB40.1,0019324,L10.2,,C0263313,,10057069,7354,Pemphigus foliaceus,All ages,
79490,Microcystic lymphatic malformation,Malformation syndrome,Disorder,LA90.11,0019329,D18.1,,C4738056,,,13020,Microcystic lymphatic malformation,"Infancy, Neonatal",Not applicable
79492,Pili gemini,Disease,Disorder,ED73.Y,0019330,L67.8,,C0019571,C537188,,,Pili gemini,"Adolescent, Adult, Childhood, Elderly",
79493,Brooke-Spiegler syndrome,Disease,Disorder,2F22,0011512,D23.5,132700,C1857941,,10087912,10179,Brooke-Spiegler syndrome,"Adolescent, Adult",Autosomal dominant
79486,Cystic hygroma,Malformation syndrome,Disorder,,,,257350,,,,,,,
79489,Macrocystic lymphatic malformation,Malformation syndrome,Disorder,LA90.10,0019328,D18.1,,C0205828,,,6010,Macrocystic lymphatic malformation,"Infancy, Neonatal",Not applicable
79467,Verrucous nevus,Clinical subtype,Subtype of disorder,LC00.Y,0019319,Q82.5,,C0362030,,,,,,
79466,Inflammatory linear verrucous epidermal nevus,Clinical subtype,Subtype of disorder,LC00.Y,0019318,Q82.5,,C0473574,,,5484,,,
79468,Acanthokeratolytic verrucous nevus,Clinical subtype,Subtype of disorder,,0019320,Q82.5,,C5681486,,,5485,,,
79474,Atypical Werner syndrome,Disease,Disorder,LD2B,0019321,E34.8,,C4275075,,,11910,Atypical Werner syndrome,"Adolescent, Adult","Autosomal dominant, Unknown"
79477,Griscelli syndrome type 2,Clinical subtype,Subtype of disorder,4A01.23,0011872,E70.3,607624,C1868679,C537302,,4483,Griscelli syndrome type 2,"Childhood, Infancy",Autosomal recessive
79476,Griscelli syndrome type 1,Clinical subtype,Subtype of disorder,EC23.2Y,0008962,E70.3,214450,C1859194,C537301,,2566,Griscelli syndrome type 1,"Childhood, Infancy",Autosomal recessive
79473,Variegate porphyria,Disease,Disorder,5C58.13,0008297,E80.2,176200,C0162532,D046350,,7848,Variegate porphyria,"Adolescent, Adult",Autosomal dominant
79264,OBSOLETE: Juvenile neuronal ceroid lipofuscinosis,Disease,Disorder,,,,,,,,,,,
79263,OBSOLETE: Infantile neuronal ceroid lipofuscinosis,Disease,Disorder,,,,,,,,,,,
79262,OBSOLETE: Adult neuronal ceroid lipofuscinosis,Disease,Disorder,,,,,,,,,,,
79269,Sanfilippo syndrome type A,Etiological subtype,Subtype of disorder,5C56.3Y,0009655,E76.2,252900,C0086647,,,7071,Sanfilippo syndrome type A,,Autosomal recessive
79257,GM1 gangliosidosis type 3,Clinical subtype,Subtype of disorder,5C56.00,0009262,E75.1,230650,C0268273,,,2431,GM1 gangliosidosis type 3,All ages,Autosomal recessive
79256,GM1 gangliosidosis type 2,Clinical subtype,Subtype of disorder,5C56.00,0009261,E75.1,230600,C0268272,,,10126,GM1 gangliosidosis type 2,Childhood,Autosomal recessive
79255,GM1 gangliosidosis type 1,Clinical subtype,Subtype of disorder,5C56.00,0009260,E75.1,230500,C0268271,,,6479,GM1 gangliosidosis type 1,"Infancy, Neonatal",Autosomal recessive
79254,Classic phenylketonuria,Clinical subtype,Subtype of disorder,5C50.00,0019259,E70.0,,C0751434,,10034875,,,,
79261,Glycogen storage disease type 1d,Clinical subtype,Subtype of disorder,,,,,C0342750,,,,,,
79260,Glycogen storage disease type 1c,Clinical subtype,Subtype of disorder,,,,,C0342749,,,,,,
79259,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,Clinical subtype,Subtype of disorder,5C51.3,0009288,E74.0,232240,C0268146,C562594,,2515,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,"Infancy, Neonatal",Autosomal recessive
79258,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,Clinical subtype,Subtype of disorder,5C51.3,0009287,E74.0,232200,C2919796,,,7864,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,"Infancy, Neonatal",Autosomal recessive
79246,Pyruvate dehydrogenase phosphatase deficiency,Clinical subtype,Subtype of disorder,5C53.02,0012120,E74.4,608782,C1837429,C536258,,9888,Pyruvate dehydrogenase phosphatase deficiency,"Infancy, Neonatal",Autosomal recessive
79253,Mild phenylketonuria,Clinical subtype,Subtype of disorder,,0019258,,,C5680203,,,10324,,,
79240,Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,Disease,Disorder,5C51.3,0009868,E74.0,261750,C0543514,C563008,,,Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,Childhood,Autosomal recessive
79241,Biotinidase deficiency,Disease,Disorder,5C50.E0,0009665,E53.8,253260,C0220754,D028921,10071434,894,Biotinidase deficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
79238,Galactose epimerase deficiency,Disease,Disorder,5C51.4Y,0009257,E74.2,230350,C0751161,,,5392,Galactose epimerase deficiency,"Infancy, Neonatal",Autosomal recessive
79239,Classic galactosemia,Disease,Disorder,5C51.40,0009258,E74.2,230400,C0268151,,,13639,Classic galactosemia,"Infancy, Neonatal",Autosomal recessive
79244,Pyruvate dehydrogenase E2 deficiency,Clinical subtype,Subtype of disorder,5C53.02,0009502,E74.4,245348,C1855565,C565448,,,Pyruvate dehydrogenase E2 deficiency,Childhood,Autosomal recessive
79242,Holocarboxylase synthetase deficiency,Disease,Disorder,5C50.E0,0009666,E53.8,253270,C0268581,D028922,,2721,Holocarboxylase synthetase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
79243,Pyruvate dehydrogenase E1-alpha deficiency,Clinical subtype,Subtype of disorder,5C53.02,0010717,E74.4,312170,C1839413,C564071,,4620,Pyruvate dehydrogenase E1-alpha deficiency,"Infancy, Neonatal",X-linked dominant
79299,Congenital glucokinase-related hyperinsulinism,Disease,Disorder,,0011236,E16.1,602485,C4274019,,,2818,Congenital glucokinase-related hyperinsulinism,"Infancy, Neonatal",Autosomal dominant
79298,Diazoxide-resistant focal hyperinsulinism,Clinical group,Group of disorders,,0019265,,,C5680204,,,,Diazoxide-resistant focal hyperinsulinism,All ages,
79301,Congenital bile acid synthesis defect type 1,Disease,Disorder,5C52.11,0011906,K76.8,607765,C1843116,C535442,,9813,Congenital bile acid synthesis defect type 1,"Infancy, Neonatal",Autosomal recessive
79289,Niemann-Pick disease type D,Disease,Disorder,,,,,C0268247,,,,,,
79293,Familial LCAT deficiency,Clinical subtype,Subtype of disorder,5C81.0,0009515,E78.6,245900,C0023195,,,4011,Familial LCAT deficiency,All ages,"Autosomal recessive, Not applicable"
79292,Fish-eye disease,Clinical subtype,Subtype of disorder,5C81.0,0007620,E78.6,136120,C0342895,,,6450,Fish-eye disease,"Adolescent, Adult",Autosomal recessive
79278,Autosomal erythropoietic protoporphyria,Disease,Disorder,5C58.12,0019263,E80.0,177000,C0162568,D046351,10015289,4527,Autosomal erythropoietic protoporphyria,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
79279,Alpha-N-acetylgalactosaminidase deficiency type 1,Clinical subtype,Subtype of disorder,5C56.21,0012221,E77.1,609241,C1836544,C536631,,116,Alpha-N-acetylgalactosaminidase deficiency type 1,"Infancy, Neonatal",Autosomal recessive
79280,Alpha-N-acetylgalactosaminidase deficiency type 2,Clinical subtype,Subtype of disorder,5C56.21,0012222,E77.1,609242,C1836522,,,9161,Alpha-N-acetylgalactosaminidase deficiency type 2,Adult,Autosomal recessive
79281,Alpha-N-acetylgalactosaminidase deficiency type 3,Clinical subtype,Subtype of disorder,5C56.21,0019264,E77.1,609241,C5437471,,,3903,Alpha-N-acetylgalactosaminidase deficiency type 3,Childhood,Autosomal recessive
79282,"Methylmalonic acidemia with homocystinuria, type cblC",Clinical subtype,Subtype of disorder,5C50.E0,0010184,D58.8,277400,C1848561,,,,"Methylmalonic acidemia with homocystinuria, type cblC",All ages,Autosomal recessive
79283,"Methylmalonic acidemia with homocystinuria, type cblD",Clinical subtype,Subtype of disorder,5C50.E0,0010185,E72.1,277410,C1848552,C564743,,,"Methylmalonic acidemia with homocystinuria, type cblD",All ages,Autosomal recessive
79284,Methylmalonic acidemia with homocystinuria type cblF,Clinical subtype,Subtype of disorder,5C50.E0,0010183,E72.1,277380,C1848578,C564747,,,Methylmalonic acidemia with homocystinuria type cblF,Childhood,Autosomal recessive
79270,Sanfilippo syndrome type B,Etiological subtype,Subtype of disorder,5C56.3Y,0009656,E76.2,252920,C0086648,,,7072,Sanfilippo syndrome type B,"Infancy, Neonatal",Autosomal recessive
79271,Sanfilippo syndrome type C,Etiological subtype,Subtype of disorder,5C56.3Y,0009657,E76.2,252930,C0086649,,,7073,Sanfilippo syndrome type C,Childhood,Autosomal recessive
79272,Sanfilippo syndrome type D,Etiological subtype,Subtype of disorder,5C56.3Y,0009658,E76.2,252940,C0086650,,,7074,Sanfilippo syndrome type D,,Autosomal recessive
79273,Hereditary coproporphyria,Disease,Disorder,5C58.1Y,0007369,E80.2,121300,C0162531,D046349,10019866,6619,Hereditary coproporphyria,"Adolescent, Adult",Autosomal dominant
79276,Acute intermittent porphyria,Disease,Disorder,5C58.1Y,0008294,E80.2,176000,C0162565,D017118,,5732,Acute intermittent porphyria,"Adolescent, Adult",Autosomal dominant
79277,Congenital erythropoietic porphyria,Disease,Disorder,5C58.12,,E80.0,263700,C5886774,D017092,,4446,Congenital erythropoietic porphyria,All ages,Autosomal recessive
79333,COG7-CDG,Disease,Disorder,5C54.2,0012118,E77.8,608779,C2931010,C535754,,9842,COG7-CDG,"Infancy, Neonatal",Autosomal recessive
79332,B4GALT1-CDG,Disease,Disorder,5C54.2,0011772,E77.8,607091,C2931009,C535753,,9841,B4GALT1-CDG,Neonatal,Autosomal recessive
79330,MOGS-CDG,Disease,Disorder,5C54.0,0011629,E77.8,606056,C1853736,C565264,,10767,MOGS-CDG,"Infancy, Neonatal",Autosomal recessive
79329,MGAT2-CDG,Disease,Disorder,5C54.0,0008908,E77.8,212066,C2931008,C535752,,9828,MGAT2-CDG,"Infancy, Neonatal",Autosomal recessive
79328,ALG9-CDG,Disease,Disorder,5C54.0,0012117,E77.8,263210,C2931006,C535750,,9839,ALG9-CDG,"Antenatal, Infancy, Neonatal",Autosomal recessive
79327,ALG1-CDG,Disease,Disorder,5C54.0,0012052,E77.8,608540,C2931005,C535749,,9838,ALG1-CDG,"Infancy, Neonatal",Autosomal recessive
79326,ALG2-CDG,Disease,Disorder,5C54.0,0011933,E77.8,607906,C1842836,C000623088,,9836,ALG2-CDG,"Infancy, Neonatal",Autosomal recessive
79325,ALG8-CDG,Disease,Disorder,5C54.0,0011969,E77.8,608104,C2931002,C535746,,9834,ALG8-CDG,"Antenatal, Infancy, Neonatal",Autosomal recessive
79324,ALG12-CDG,Disease,Disorder,5C54.0,0011783,E77.8,607143,C2931001,C535745,,9833,ALG12-CDG,"Infancy, Neonatal",Autosomal recessive
79323,MPDU1-CDG,Disease,Disorder,5C54.2,0012211,E77.8,609180,C1836669,C535744,,9832,MPDU1-CDG,"Infancy, Neonatal",Autosomal recessive
79322,DPM1-CDG,Disease,Disorder,5C54.2,0012123,E77.8,608799,C1837396,C535743,,9831,DPM1-CDG,"Infancy, Neonatal",Autosomal recessive
79321,ALG3-CDG,Disease,Disorder,5C54.0,0010998,E77.8,601110,C1832736,C535742,,9827,ALG3-CDG,"Infancy, Neonatal",Autosomal recessive
79320,ALG6-CDG,Disease,Disorder,5C54.0,0011291,E77.8,603147,C2930997,C535741,,9829,ALG6-CDG,"Infancy, Neonatal",Autosomal recessive
79319,MPI-CDG,Disease,Disorder,5C54.0,0011257,E77.8,602579,C1865145,C535740,,9830,MPI-CDG,"Infancy, Neonatal",Autosomal recessive
79318,PMM2-CDG,Disease,Disorder,5C54.0,0008907,E77.8,212065,C0349653,C535739,,9826,PMM2-CDG,"Infancy, Neonatal",Autosomal recessive
79316,OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency,Etiological subtype,Subtype of disorder,,,,,,,,,,,
79317,OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency,Etiological subtype,Subtype of disorder,,,,,,,,,,,
79314,L-2-hydroxyglutaric aciduria,Disease,Disorder,5C50.E1,0009370,E72.8,236792,C1855995,,,10472,L-2-hydroxyglutaric aciduria,Childhood,Autosomal recessive
79315,D-2-hydroxyglutaric aciduria,Disease,Disorder,5C50.E1,0010924,E72.8,613657,C1833429,,,5661,D-2-hydroxyglutaric aciduria,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
79312,Vitamin B12-unresponsive methylmalonic acidemia type mut-,Clinical subtype,Subtype of disorder,5C50.E0,0019267,E71.1,251000,C0342719,,,,Vitamin B12-unresponsive methylmalonic acidemia type mut-,"Infancy, Neonatal",Autosomal recessive
79310,Vitamin B12-responsive methylmalonic acidemia type cblA,Clinical subtype,Subtype of disorder,5C50.E0,0009613,E71.1,251100,C1855109,C537360,,,Vitamin B12-responsive methylmalonic acidemia type cblA,Childhood,Autosomal recessive
79311,Vitamin B12-responsive methylmalonic acidemia type cblB,Clinical subtype,Subtype of disorder,5C50.E0,0009614,E71.1,251110,C1855102,C537361,,,Vitamin B12-responsive methylmalonic acidemia type cblB,Childhood,Autosomal recessive
79306,Progressive familial intrahepatic cholestasis type 1,Clinical subtype,Subtype of disorder,5C58.03,0008892,K76.8,211600,C4551898,C535933,,9802,Progressive familial intrahepatic cholestasis type 1,"Infancy, Neonatal",Autosomal recessive
79304,Progressive familial intrahepatic cholestasis type 2,Clinical subtype,Subtype of disorder,5C58.03,0011156,K76.8,601847,C3489789,C535934,,1288,Progressive familial intrahepatic cholestasis type 2,"Infancy, Neonatal",Autosomal recessive
79305,Progressive familial intrahepatic cholestasis type 3,Clinical subtype,Subtype of disorder,5C58.03,0011214,K76.8,602347,C1865643,C535935,,1289,Progressive familial intrahepatic cholestasis type 3,All ages,Autosomal recessive
79302,Congenital bile acid synthesis defect type 3,Disease,Disorder,5C52.11,0013439,K76.8,613812,C4304715,C566340,,,Congenital bile acid synthesis defect type 3,"Infancy, Neonatal",Autosomal recessive
79303,Congenital bile acid synthesis defect type 2,Disease,Disorder,5C52.11,0009339,K76.8,235555,C1856127,C535443,,10045,Congenital bile acid synthesis defect type 2,"Infancy, Neonatal",Autosomal recessive
79363,Hair anomaly,Category,Group of disorders,,0019278,,,C0265991,,,,,,
79362,Epidermal appendage anomaly,Category,Group of disorders,,,,,C5681487,,,,,,
79365,Rare disorder with hypertrichosis,Category,Group of disorders,,,,,C5681488,D006983,10020864,,,,
79364,Alopecia,Category,Group of disorders,ED70,0004907,,,C0002170,D000505,10001760,,,,
79359,Other epidermal disorder,Category,Group of disorders,,,,,C5681489,,,,,,
79358,Porokeratosis,Category,Group of disorders,ED52,0006602,,,C0162839,D017499,10036175,,,,
79361,Inherited epidermolysis bullosa,Category,Group of disorders,,0019276,,,C1274224,,,,Inherited epidermolysis bullosa,All ages,"Autosomal dominant, Autosomal recessive"
79360,Other genetic epidermal disease,Category,Group of disorders,,,,,C5681490,,,,,,
79355,Erythrokeratoderma,Category,Group of disorders,,0019270,,,C0432330,,10015280,,,,
79354,Ichthyosis,Category,Group of disorders,,0019269,,,C0020757,D007057,10021198,,,,
79357,Hereditary palmoplantar keratoderma,Category,Group of disorders,EC20.3,0019272,,,C0406757,,10072537,,,,
79356,Acrokeratoderma,Category,Group of disorders,,,,,C5681491,,,,,,
79351,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form",Etiological subtype,Subtype of disorder,5C50.6,0011152,E72.8,601815,C5680205,,,,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form","Adolescent, Childhood, Infancy",Autosomal recessive
79350,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",Etiological subtype,Subtype of disorder,5C50.6,0013531,E72.8,614023,C1291463,,,,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",Infancy,Autosomal recessive
79353,Epidermal disease,Category,Group of disorders,,0019268,,,C5681492,,,,,,
79346,"Chondrodysplasia punctata, tibial-metacarpal type",Malformation syndrome,Disorder,LD24.04,0007322,Q77.3,118651,C0432224,C562961,,,"Chondrodysplasia punctata, tibial-metacarpal type","Antenatal, Neonatal",Unknown
79347,"Chondrodysplasia punctata, Toriello type",Malformation syndrome,Disorder,LD24.04,0008973,Q77.3,215105,C4275076,,,,"Chondrodysplasia punctata, Toriello type",Neonatal,Autosomal recessive
79344,"OBSOLETE: Chondrodysplasia punctata, Sheffield type",Malformation syndrome,Disorder,,,,,,,,,,,
79345,Brachytelephalangic chondrodysplasia punctata,Malformation syndrome,Disorder,LD24.04,10555,Q77.3,602497,C1844853,C000705207,,1296,Brachytelephalangic chondrodysplasia punctata,"Antenatal, Neonatal",X-linked recessive
85191,Singleton-Merten dysplasia,Malformation syndrome,Disorder,LD24.KY,0008429,Q78.8,616298,C0432254,C537343,,122,Singleton-Merten dysplasia,No data available,Autosomal dominant
85188,"Metaphyseal dysplasia, Braun-Tinschert type",Malformation syndrome,Disorder,LD24.1Y,0011620,Q78.5,605946,C1853825,C565271,,,"Metaphyseal dysplasia, Braun-Tinschert type","Infancy, Neonatal",
85193,Idiopathic juvenile osteoporosis,Malformation syndrome,Disorder,FB83.1Y,0019409,M81.5,615221,C0264080,C537700,10088561,6760,Idiopathic juvenile osteoporosis,"Adolescent, Childhood","Multigenic/multifactorial, Not applicable"
85192,Calvarial doughnut lesions-bone fragility syndrome,Malformation syndrome,Disorder,LD24.KY,0007470,M85.8,126550,C1852022,C565089,,,Calvarial doughnut lesions-bone fragility syndrome,Childhood,Autosomal dominant
85195,Familial expansile osteolysis,Disease,Disorder,FB86.2,0008275,M89.5,174810,C0432292,C536335,,9168,Familial expansile osteolysis,"Adolescent, Adult, Childhood",Autosomal dominant
85194,Spondylo-ocular syndrome,Malformation syndrome,Disorder,LD24.KY,0011604,Q87.5,605822,C4225412,,,,Spondylo-ocular syndrome,"Infancy, Neonatal",Autosomal recessive
85197,Genochondromatosis type 1,Disease,Disorder,LD24.2Y,0019411,Q78.4,137360,C5438970,,,,Genochondromatosis type 1,Childhood,Autosomal dominant
85196,Nodulosis-arthropathy-osteolysis syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
85199,Craniosynostosis-anal anomalies-porokeratosis syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011287,Q87.8,603116,C1864186,C536789,,9506,Craniosynostosis-anal anomalies-porokeratosis syndrome,"Infancy, Neonatal",Autosomal recessive
85198,Dysspondyloenchondromatosis,Malformation syndrome,Disorder,LD24.2Y,0019412,Q78.4,,C4302548,,,,Dysspondyloenchondromatosis,"Infancy, Neonatal","Autosomal dominant, Not applicable"
85201,Genitopatellar syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011640,Q87.8,606170,C1853566,C565255,,10994,Genitopatellar syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
85200,Ischio-vertebral syndrome,Malformation syndrome,Disorder,,0019413,,,C4274732,,,,,,
85203,Acropectoral syndrome,Malformation syndrome,Disorder,LB73.13,0011621,Q74.0,605967,C1853812,C535664,,8485,Acropectoral syndrome,"Infancy, Neonatal",Autosomal dominant
85202,Keutel syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009495,Q87.8,245150,C1855607,C536167,,8449,Keutel syndrome,Childhood,Autosomal recessive
85273,"X-linked intellectual disability, Abidi type",Malformation syndrome,Disorder,LD90,0010285,Q87.8,300262,C4305021,C535556,,9157,"X-linked intellectual disability, Abidi type",Childhood,X-linked recessive
85212,Fetal Gaucher disease,Clinical subtype,Subtype of disorder,5C56.0Y,0011945,E75.2,608013,C1842704,C564306,,10675,Fetal Gaucher disease,"Infancy, Neonatal",Autosomal recessive
85274,Syndromic X-linked intellectual disability 7,Malformation syndrome,Disorder,LD90,0010270,Q87.8,300218,C1846170,C537449,,9156,Syndromic X-linked intellectual disability 7,No data available,X-linked recessive
85275,Microphthalmia-ankyloblepharon-intellectual disability syndrome,Malformation syndrome,Disorder,LD21.0,,Q11.2,,C1844948,,,5066,Microphthalmia-ankyloblepharon-intellectual disability syndrome,"Infancy, Neonatal",X-linked recessive
85276,"X-linked intellectual disability, Armfield type",Malformation syndrome,Disorder,LD90,0010284,Q87.8,300261,C4305022,,,,"X-linked intellectual disability, Armfield type","Infancy, Neonatal",X-linked recessive
85277,"X-linked intellectual disability, Cantagrel type",Malformation syndrome,Disorder,LD90,0010483,Q87.8,300912,C4305023,,,,"X-linked intellectual disability, Cantagrel type","Infancy, Neonatal",X-linked recessive
85278,Christianson syndrome,Malformation syndrome,Disorder,8A03.1Y,0010278,Q87.8,300243,C2678194,C567484,,10572,Christianson syndrome,"Infancy, Neonatal",X-linked recessive
85279,KDM5C-related syndromic X-linked intellectual disability,Malformation syndrome,Disorder,LD90,0010355,Q87.8,300534,C5681493,,,,KDM5C-related syndromic X-linked intellectual disability,Childhood,X-linked recessive
85280,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,Malformation syndrome,Disorder,LD90,0010332,Q87.8,300471,C4304935,,,,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,"Infancy, Neonatal",X-linked recessive
85281,OBSOLETE: MECP2 duplication syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
85282,MEHMO syndrome,Malformation syndrome,Disorder,LD29,0010258,Q87.8,300148,C1846278,C537451,,9178,MEHMO syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
85283,"X-linked intellectual disability, Miles-Carpenter type",Malformation syndrome,Disorder,,,,,C4305025,C537472,,,,,
85284,BRESEK syndrome,Malformation syndrome,Disorder,LD90,0019414,Q87.8,308205,C3502469,C564519,,,BRESEK syndrome,Childhood,X-linked dominant
85285,"X-linked intellectual disability, Schimke type",Malformation syndrome,Disorder,LD90,0010729,Q87.8,312840,C4305027,C536630,,9288,"X-linked intellectual disability, Schimke type","Infancy, Neonatal",X-linked recessive
85286,"X-linked intellectual disability, Shashi type",Malformation syndrome,Disorder,LD90,0010277,Q87.8,300238,C4305085,,,4119,"X-linked intellectual disability, Shashi type","Infancy, Neonatal",X-linked recessive
85287,"X-linked intellectual disability, Siderius type",Malformation syndrome,Disorder,LD90,0010286,Q87.8,300263,C4305078,C537333,10082377,9704,"X-linked intellectual disability, Siderius type","Infancy, Neonatal",X-linked recessive
85288,"X-linked intellectual disability, Stocco Dos Santos type",Malformation syndrome,Disorder,LD90,0010325,Q87.8,300434,C4305076,,,1133,"X-linked intellectual disability, Stocco Dos Santos type",Childhood,X-linked recessive
85289,"X-linked intellectual disability, Vitale type",Malformation syndrome,Disorder,,,,,,,,,,,
85293,"X-linked intellectual disability, Cabezas type",Malformation syndrome,Disorder,LD90,0010306,Q87.8,300354,C1845861,,,13244,"X-linked intellectual disability, Cabezas type",Childhood,X-linked recessive
85292,X-linked spinocerebellar ataxia type 4,Disease,Disorder,8A03.1Y,0010534,G11.1,301840,C1844933,C537316,,9980,X-linked spinocerebellar ataxia type 4,Adult,X-linked recessive
85291,"X-linked intellectual disability, Wittwer type",Malformation syndrome,Disorder,,,,,,C536760,,,,,
85290,"X-linked intellectual disability, Wilson type",Malformation syndrome,Disorder,LD90,0010658,Q87.8,309545,C4305028,,,,"X-linked intellectual disability, Wilson type",Childhood,"X-linked dominant, X-linked recessive"
85317,X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,Malformation syndrome,Disorder,LD90,0019416,Q87.8,,C4304919,,,,X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,Childhood,X-linked recessive
85297,X-linked spinocerebellar ataxia type 3,Malformation syndrome,Disorder,8A03.1Y,0010529,G11.1,301790,C1844936,C537315,,9981,X-linked spinocerebellar ataxia type 3,Childhood,X-linked recessive
85295,"HSD10 disease, atypical type",Clinical subtype,Subtype of disorder,5C52.01,0037149,G25.5,300438,C5680206,,,,"HSD10 disease, atypical type","Childhood, Infancy",X-linked dominant
85294,X-linked epilepsy-learning disabilities-behavior disorders syndrome,Disease,Disorder,,0010339,Q87.8,300491,C4273990,,,,X-linked epilepsy-learning disabilities-behavior disorders syndrome,Childhood,X-linked recessive
85321,"Deafness-intellectual disability syndrome, Martin-Probst type",Malformation syndrome,Disorder,LD2H.Y,0010353,Q87.8,300519,C1845285,C564495,,,"Deafness-intellectual disability syndrome, Martin-Probst type","Infancy, Neonatal",X-linked recessive
85320,X-linked intellectual disability-macrocephaly-macroorchidism syndrome,Malformation syndrome,Disorder,LD90,0019419,Q87.8,,C4304406,,,,X-linked intellectual disability-macrocephaly-macroorchidism syndrome,"Infancy, Neonatal",X-linked recessive
85319,X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,Malformation syndrome,Disorder,LD90,0019418,Q87.8,,C4304917,,,,X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,"Infancy, Neonatal",X-linked recessive
85318,OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
85325,"X-linked intellectual disability, Stevenson type",Malformation syndrome,Disorder,LD90,0019422,Q87.8,,C4305077,,,,"X-linked intellectual disability, Stevenson type",Childhood,X-linked recessive
85324,"X-linked intellectual disability, Shrimpton type",Malformation syndrome,Disorder,LD90,0010409,Q87.8,300709,C2678039,C567474,,,"X-linked intellectual disability, Shrimpton type","Infancy, Neonatal",X-linked recessive
85323,"X-linked intellectual disability, Seemanova type",Disease,Disorder,LD20.2,0019421,Q87.8,,C4305088,,,,"X-linked intellectual disability, Seemanova type","Infancy, Neonatal",X-linked recessive
85322,"X-linked intellectual disability, Pai type",Malformation syndrome,Disorder,LD90,0019420,Q87.8,,C4305026,,,,"X-linked intellectual disability, Pai type","Childhood, Infancy",X-linked recessive
85328,"X-linked intellectual disability, Turner type",Malformation syndrome,Disorder,,,,309590,C2678046,,,,,,
85329,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,Malformation syndrome,Disorder,LD90,,Q87.8,304340,C4304918,,,,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,"Childhood, Infancy",X-linked recessive
85326,"X-linked intellectual disability, Stoll type",Malformation syndrome,Disorder,LD90,0019423,Q87.8,,C4305075,,,,"X-linked intellectual disability, Stoll type","Infancy, Neonatal",X-linked recessive
85327,X-linked intellectual disability-acromegaly-hyperactivity syndrome,Disease,Disorder,LD90,0019424,Q87.8,,C4304407,,,,X-linked intellectual disability-acromegaly-hyperactivity syndrome,Childhood,X-linked recessive
85332,X-linked intellectual disability-retinitis pigmentosa syndrome,Disease,Disorder,LD90,0010364,H35.5,300578,C0795873,C537046,,8360,X-linked intellectual disability-retinitis pigmentosa syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
85333,X-linked intellectual disability-spastic paraplegia with iron deposits syndrome,Disease,Disorder,,,,,C2931491,,,,,,
85330,X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome,Disease,Disorder,,,,,,,,,,,
85331,OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome,Disease,Disorder,,,,,,,,,,,
85336,"X-linked neurodegenerative syndrome, Hamel type",Disease,Disorder,8A2Y,0019429,G31.8,,C4305135,,,,"X-linked neurodegenerative syndrome, Hamel type","Infancy, Neonatal",X-linked recessive
85337,"X-linked intellectual disability, Zorick type",Disease,Disorder,,,,,,,,,,,
85334,"X-linked neurodegenerative syndrome, Bertini type",Disease,Disorder,LD90,0019427,G31.8,,C4305133,,,,"X-linked neurodegenerative syndrome, Bertini type","Infancy, Neonatal",X-linked recessive
85335,Fried syndrome,Malformation syndrome,Disorder,,0019428,Q87.8,304340,C4305134,,,,Fried syndrome,"Infancy, Neonatal",X-linked recessive
85410,Oligoarticular juvenile idiopathic arthritis,Disease,Disorder,FA24.0,0019433,M08.4,,C2931171,C536312,,4261,Oligoarticular juvenile idiopathic arthritis,Childhood,Multigenic/multifactorial
85414,Systemic-onset juvenile idiopathic arthritis,Disease,Disorder,FA24.4,0019434,M08.2,604302,C0087031,,10042061,10966,Systemic-onset juvenile idiopathic arthritis,Childhood,"Multigenic/multifactorial, Unknown"
85338,X-linked intellectual disability-ataxia-apraxia syndrome,Disease,Disorder,8A03.1Y,0019430,G31.8,,C4305139,,,,X-linked intellectual disability-ataxia-apraxia syndrome,Childhood,X-linked recessive
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,Disease,Disorder,FA24.1,,M08.3,,C3890205,,,3931,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,Childhood,Multigenic/multifactorial
85443,AL amyloidosis,Disease,Disorder,5D00.0,0019438,E85.9,254500,C0268381,D000075363,10036673,5797,AL amyloidosis,Adult,Not applicable
85442,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,Disease,Disorder,5A61.0,0009880,E23.0,262700,C4303613,,,10604,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,"Infancy, Neonatal",Autosomal dominant
85446,Wild type ABeta2M amyloidosis,Disease,Disorder,5D00.3,0019440,E85.3,,C0268405,,,,Wild type ABeta2M amyloidosis,Adult,Not applicable
85445,AA amyloidosis,Disease,Disorder,5D00.1,0019439,E85.3,,C3536715,C000718787,10039811,10560,AA amyloidosis,"Adolescent, Adult, Childhood",Not applicable
85436,Psoriasis-related juvenile idiopathic arthritis,Disease,Disorder,FA24.2,0019436,M09.0*,,C3714758,,10076674,10970,Psoriasis-related juvenile idiopathic arthritis,"Adolescent, Childhood",Unknown
85435,Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,Disease,Disorder,FA24.1,0019435,M08.0,,C4048747,,,,Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,Childhood,Unknown
85438,Enthesitis-related juvenile idiopathic arthritis,Disease,Disorder,FA24.3,0019437,M08.8,,C3495919,,,10969,Enthesitis-related juvenile idiopathic arthritis,"Adolescent, Childhood",Unknown
85458,Hereditary cerebral amyloid angiopathy,Disease,Disorder,8B22.3,,I68.0*,605714,C1510489,,,10266,Hereditary cerebral amyloid angiopathy,Adult,Autosomal dominant
85453,X-linked reticulate pigmentary disorder,Disease,Disorder,5D00.Y,0010523,L99.0*,301220,C1845050,C564461,,,X-linked reticulate pigmentary disorder,Childhood,X-linked dominant
86788,X-linked severe congenital neutropenia,Disease,Disorder,4B00.00,0010294,D70,300299,C1845987,C564539,,3981,X-linked severe congenital neutropenia,"Infancy, Neonatal",X-linked recessive
86309,DPAGT1-CDG,Disease,Disorder,5C54.0,0011964,E77.8,608093,C2931004,C535748,,9837,DPAGT1-CDG,"Childhood, Infancy, Neonatal",Autosomal recessive
85448,AGel amyloidosis,Disease,Disorder,5D00.2Y,0007097,E85.1,105120,C0936273,,,2339,AGel amyloidosis,Adult,Autosomal dominant
85447,ATTRV30M amyloidosis,Clinical subtype,Subtype of disorder,5D00.20,0100552,E85.1,115430,C0268384,,,,ATTRV30M amyloidosis,Adult,Autosomal dominant
85451,ATTRV122I amyloidosis,Clinical subtype,Subtype of disorder,5D00.20,0019441,E85.4,105210,C4275067,,,,ATTRV122I amyloidosis,Adult,Autosomal dominant
85450,Hereditary amyloidosis with primary renal involvement,Disease,Disorder,5D00.2Y,0007099,E85.0,105200,C0268389,,,8282,Hereditary amyloidosis with primary renal involvement,All ages,Autosomal dominant
86812,POMT1-related limb-girdle muscular dystrophy R11,Disease,Disorder,8C70.41,0012248,G71.0,609308,C1836373,,,,POMT1-related limb-girdle muscular dystrophy R11,Childhood,Autosomal recessive
86813,Helicoid peripapillary chorioretinal degeneration,Disease,Disorder,9B70,0007176,H31.2,108985,C1862382,C566236,,,Helicoid peripapillary chorioretinal degeneration,"Infancy, Neonatal",Autosomal dominant
86814,Familial adult myoclonic epilepsy,Disease,Disorder,8A61.32,0019448,G40.3,618074,C4273988,,,,Familial adult myoclonic epilepsy,All ages,Autosomal dominant
86815,Aplasia of lacrimal and salivary glands,Disease,Disorder,LA14.10,0008397,Q38.4,180920,C0158667,C562407,,,Aplasia of lacrimal and salivary glands,,Autosomal dominant
86789,Isolated patella aplasia/hypoplasia,Morphological anomaly,Disorder,LB95,0008205,Q74.1,168860,C1868577,C535568,,8709,Isolated patella aplasia/hypoplasia,"Infancy, Neonatal",Autosomal dominant
86795,Localized lichen myxedematosus,Clinical group,Group of disorders,EB90.11,0019446,,,C5575846,,,7321,,,
86797,Atypical lichen myxedematosus,Disease,Disorder,EB90.11,0019447,L98.5,,C4510874,,,,Atypical lichen myxedematosus,"Adolescent, Adult, Elderly",
86820,Familial avascular necrosis of femoral head,Disease,Disorder,FB82.1,0012126,M87.8,617383,C4275066,,,10914,Familial avascular necrosis of femoral head,Adult,Autosomal dominant
86821,Lissencephaly type 3-familial fetal akinesia sequence syndrome,Malformation syndrome,Disorder,LD20.1,0019449,Q04.3,601160,C4305255,,,,Lissencephaly type 3-familial fetal akinesia sequence syndrome,Antenatal,Autosomal recessive
86822,Lissencephaly type 3-metacarpal bone dysplasia syndrome,Malformation syndrome,Disorder,LD20.1,0011004,Q04.3,601160,C4305254,,,,Lissencephaly type 3-metacarpal bone dysplasia syndrome,"Antenatal, Neonatal",Autosomal recessive
86823,Lissencephaly with cerebellar hypoplasia,Clinical group,Group of disorders,,0019450,,,C4274995,,,,,,
86816,Congenital analbuminemia,Disease,Disorder,5D0Y,0014449,E88.0,616000,C4305253,,,13056,Congenital analbuminemia,"Antenatal, Infancy, Neonatal",Autosomal recessive
512017,Chronic lymphoproliferative disorder of natural killer cells,Disease,Disorder,2A90.2,0004234,C91.7,,C1512709,,,,Chronic lymphoproliferative disorder of natural killer cells,,Unknown
86817,Hemolytic anemia due to adenylate kinase deficiency,Disease,Disorder,3A10.Y,0012967,D55.3,612631,C2675459,C567228,,,Hemolytic anemia due to adenylate kinase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
86818,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,Disease,Disorder,LD2H.Y,0010263,Q87.8,300990,C1846242,C564570,,,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
86819,Atrichia with papular lesions,Disease,Disorder,EC21.2,0008847,L65.8,209500,C1859592,C565924,,,Atrichia with papular lesions,,Autosomal recessive
512034,Large granular lymphocyte leukemia,Clinical group,Group of disorders,,,,,C1522378,D054066,,,,,
86843,Acute panmyelosis with myelofibrosis,Disease,Disorder,2A60.38,0019455,C94.4,,C0334674,,10000879,11907,Acute panmyelosis with myelofibrosis,Adult,Not applicable
86841,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,Disease,Disorder,2A36,0007925,D46.6,153550,C1292779,,10067096,8723,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,Adult,Not applicable
86839,Myelodysplastic neoplasm with increased blasts,Disease,Disorder,2A35,0019454,D46.2,,C0002894,D000754,10038270,,Myelodysplastic neoplasm with increased blasts,Adult,Not applicable
86836,Refractory cytopenia with multilineage dysplasia,Clinical group,Group of disorders,2A34,,,,C0796466,,10067959,,Refractory cytopenia with multilineage dysplasia,Adult,
512103,Autosomal recessive epidermolytic ichthyosis,Disease,Disorder,EC20.03,0044742,Q80.8,620707,C5437635,,,,Autosomal recessive epidermolytic ichthyosis,,Autosomal recessive
86834,Juvenile myelomonocytic leukemia,Disease,Disorder,2A42,0011908,C93.3,607785,C0349639,D054429,10023249,9884,Juvenile myelomonocytic leukemia,"Childhood, Infancy",Not applicable
86830,"Chronic myeloproliferative disease, unclassifiable",Disease,Disorder,2A22,0019452,D47.1,131440,C4757947,,,,"Chronic myeloproliferative disease, unclassifiable",Adult,
86829,Chronic neutrophilic leukemia,Disease,Disorder,2A20.1,0019451,D47.1,,C0023481,D015467,,10585,Chronic neutrophilic leukemia,Adult,Not applicable
86855,Plasmacytoma,Disease,Disorder,2A83.2,0005615,C90.3,,C0032131,D010954,10035484,13446,Plasmacytoma,Adult,Not applicable
512260,Congenital cerebellar ataxia due to RNU12 mutation,Disease,Disorder,,0033717,G11.0,620208,C5567894,,,,Congenital cerebellar ataxia due to RNU12 mutation,Infancy,Autosomal recessive
86854,Splenic marginal zone lymphoma,Disease,Disorder,XH0MV1,0019462,C83.0,,C0349632,,10062113,,Splenic marginal zone lymphoma,Adult,Not applicable
86852,B-cell prolymphocytic leukemia,Disease,Disorder,2A82.1,0019461,C91.3,,C0475801,D054403,10073480,8223,B-cell prolymphocytic leukemia,Adult,
86851,Acute leukemia of ambiguous lineage,Category,Group of disorders,2A61,0019460,C95.0,601626,C1301357,,,8638,Acute leukemia of ambiguous lineage,All ages,
86850,Myeloid sarcoma,Disease,Disorder,2A60.39,0006861,C92.3,,C4721505,D023981,10008583,12763,Myeloid sarcoma,All ages,Not applicable
86849,Acute basophilic leukemia,Disease,Disorder,2A60.37,0019458,C94.7,,C0023437,D015471,,,Acute basophilic leukemia,All ages,
86846,Therapy related acute myeloid leukemia and myelodysplastic syndrome,Category,Group of disorders,2A60.20,0019457,,601626,C1292776,,,,Therapy related acute myeloid leukemia and myelodysplastic syndrome,All ages,
86845,Acute myeloid leukaemia with myelodysplasia-related features,Disease,Disorder,2A60.1,0019456,C92.8,601626,C1292773,,,12761,Acute myeloid leukaemia with myelodysplasia-related features,Adult,Not applicable
86872,T-cell large granular lymphocyte leukemia,Disease,Disorder,2A90.1,0019469,C91.7,,C1955861,,10065862,9812,T-cell large granular lymphocyte leukemia,Adult,Not applicable
86873,Aggressive NK-cell leukemia,Disease,Disorder,2A90.3,0019470,C94.7,,C1292777,,10028811,10493,Aggressive NK-cell leukemia,Adult,"Multigenic/multifactorial, Not applicable"
86870,Blastic plasmacytoid dendritic cell neoplasm,Disease,Disorder,2A60.5,0019467,C86.4,,C1301363,,,10556,Blastic plasmacytoid dendritic cell neoplasm,Elderly,Not applicable
86871,T-cell prolymphocytic leukemia,Disease,Disorder,2A90.0,0019468,C91.6,,C2363142,D015461,10042985,13731,T-cell prolymphocytic leukemia,"Adult, Elderly",Not applicable
86867,Nodal marginal zone B-cell lymphoma,Disease,Disorder,2A85.0,0019465,C83.0,,C0855139,,10029460,,Nodal marginal zone B-cell lymphoma,"Adolescent, Adult, Elderly",Not applicable
86869,Lymphomatoid granulomatosis,Disease,Disorder,2A81.3,0019466,C83.8,,C0024307,D008230,10025325,6943,Lymphomatoid granulomatosis,Adult,Not applicable
86861,Non-amyloid monoclonal immunoglobulin deposition disease,Disease,Disorder,,0019463,D89.8,,C5394673,,,,Non-amyloid monoclonal immunoglobulin deposition disease,Adult,
86864,Heavy chain disease,Disease,Disorder,2A84,0019464,C88.3,,C0018852,D006362,10019350,,Heavy chain disease,Adult,
86886,Angioimmunoblastic T-cell lymphoma,Disease,Disorder,2A90.9,0004977,C86.5,,C0020981,,10002449,11973,Angioimmunoblastic T-cell lymphoma,Adult,Not applicable
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Disease,Disorder,2B30.0,0044778,C81.0,,C1334968,,10080201,,Nodular lymphocyte predominant Hodgkin lymphoma,All ages,Unknown
86884,Subcutaneous panniculitis-like T-cell lymphoma,Disease,Disorder,2B00,0019475,C86.3,618398,C0522624,C537503,,10193,Subcutaneous panniculitis-like T-cell lymphoma,All ages,Not applicable
86885,Primary cutaneous peripheral T-cell lymphoma not otherwise specified,Disease,Disorder,2A90.C,0019476,C84.4,,C0079774,D016411,10034623,,Primary cutaneous peripheral T-cell lymphoma not otherwise specified,"Adult, Elderly",Not applicable
86880,Enteropathy-associated T-cell lymphoma,Disease,Disorder,2A90.7,0019473,C86.2,,C0456889,D058527,10073481,9809,Enteropathy-associated T-cell lymphoma,Adult,Not applicable
86882,Hepatosplenic T-cell lymphoma,Disease,Disorder,2A90.8,0019474,C86.1,,C1333984,,10066957,,Hepatosplenic T-cell lymphoma,"Adolescent, Adult",Not applicable
86875,Adult T-cell leukemia/lymphoma,Disease,Disorder,2A90.5,0019471,C91.5,,C0023493,D015459,10001413,,Adult T-cell leukemia/lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
86879,Extranodal nasal NK/T cell lymphoma,Disease,Disorder,2A90.6,0019472,C86.0,,C0392788,D054391,10065855,7041,Extranodal nasal NK/T cell lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
79502,Punctate palmoplantar keratoderma type 2,Disease,Disorder,EC20.32,0008292,Q82.8,175860,C1867982,C536338,,4439,Punctate palmoplantar keratoderma type 2,Adult,Autosomal dominant
79503,Ichthyosis hystrix of Curth-Macklin,Disease,Disorder,EC20.03,0007808,Q80.8,146590,C1840296,C536088,,2954,Ichthyosis hystrix of Curth-Macklin,Childhood,"Autosomal dominant, Not applicable"
79504,Ichthyosis hystrix gravior,Disease,Disorder,,,,146600,C0432311,C536087,,,,,
79506,OBSOLETE: Cholesterol-ester transfer protein deficiency,Disease,Disorder,,,,,,,,,,,
79507,Hypotonia-failure to thrive-microcephaly syndrome,Disease,Disorder,,0013539,E88.8,614037,C3279662,C565439,,,Hypotonia-failure to thrive-microcephaly syndrome,"Infancy, Neonatal",Autosomal recessive
79495,X-linked congenital generalized hypertrichosis,Clinical subtype,Subtype of disorder,LD27.0Y,0010614,Q84.2,307150,C1855900,C538388,,2863,X-linked congenital generalized hypertrichosis,,X-linked dominant
79499,Autosomal dominant deafness-onychodystrophy syndrome,Malformation syndrome,Disorder,LD27.0Y,0007420,Q87.8,124480,C2675730,C567274,,4732,Autosomal dominant deafness-onychodystrophy syndrome,"Antenatal, Neonatal",Autosomal dominant
79500,DOORS syndrome,Malformation syndrome,Disorder,LD27.0Y,0009079,Q87.8,220500,C0795934,C563052,10080835,1685,DOORS syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
79501,Punctate palmoplantar keratoderma type 1,Disease,Disorder,EC20.32,0019332,Q82.8,614936,C1835662,C536161,,3103,Punctate palmoplantar keratoderma type 1,"Adolescent, Adult",Autosomal dominant
79669,Autoimmune bullous skin disease,Clinical group,Group of disorders,,0019337,,,C5681494,,,,,,
79665,Gardner syndrome,Clinical subtype,Subtype of disorder,LD2D.3,0019336,,,C0017097,D005736,10017727,6482,,,
82004,Ehlers-Danlos syndrome with periventricular heterotopia,Disease,Disorder,,,,,C1845235,,,,,,
83001,Urogenital tract malformation,Category,Group of disorders,,0019356,,,C0042063,,10062334,,,,
79643,Autosomal recessive hyperinsulinism due to SUR1 deficiency,Disease,Disorder,,0019333,E16.1,256450,C5191077,,,,Autosomal recessive hyperinsulinism due to SUR1 deficiency,,Autosomal recessive
79651,Mild hyperphenylalaninemia,Clinical subtype,Subtype of disorder,5C50.0Y,0019335,E70.1,261600,C5680207,,,,Mild hyperphenylalaninemia,"Infancy, Neonatal",Autosomal recessive
79644,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,Disease,Disorder,,0019334,E16.1,601820,C5191078,,,,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,Neonatal,Autosomal recessive
83317,Scrub typhus,Disease,Disorder,1C30.3,0019365,A75.3,,C0036472,D012612,10039766,,Scrub typhus,All ages,
83330,Proximal spinal muscular atrophy type 1,Clinical subtype,Subtype of disorder,8B61.0,0009669,G12.0,253300,C5848259,,,7883,Proximal spinal muscular atrophy type 1,"Infancy, Neonatal",Autosomal recessive
83315,Murine typhus,Disease,Disorder,1C30.2,0000330,A75.2,,C0041472,D014437,10028282,,Murine typhus,All ages,Not applicable
83316,Pseudotyphus of California,Disease,Disorder,1C30.Y,0019364,A79.8,,C4706680,,,,Pseudotyphus of California,All ages,Not applicable
83419,Proximal spinal muscular atrophy type 3,Clinical subtype,Subtype of disorder,8B61.2,0009672,G12.1,253400,C0152109,,,198,Proximal spinal muscular atrophy type 3,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
83420,Proximal spinal muscular atrophy type 4,Clinical subtype,Subtype of disorder,8B61.3,0010056,G12.1,271150,C1838230,C563948,,,Proximal spinal muscular atrophy type 4,Adult,Autosomal recessive
83418,Proximal spinal muscular atrophy type 2,Clinical subtype,Subtype of disorder,8B61.1,0009673,G12.1,253550,C0393538,,,4945,Proximal spinal muscular atrophy type 2,Infancy,Autosomal recessive
83313,Boutonneuse fever,Disease,Disorder,1C31.1,0024472,A77.1,,C0006060,D001907,10006045,,Boutonneuse fever,All ages,Not applicable
83314,Epidemic typhus,Disease,Disorder,1C30.0,19362,A75.0,,C0041473,D014438,10014979,,Epidemic typhus,All ages,Not applicable
83311,Rocky Mountain spotted fever,Disease,Disorder,1C31.0,0019359,A77.0,,C0035793,D012373,10039207,7585,Rocky Mountain spotted fever,All ages,Not applicable
83312,Rickettsialpox,Disease,Disorder,1C32,0019360,A79.1,,C0035597,D000073605,10039137,,Rickettsialpox,All ages,Not applicable
83469,Desmoplastic small round cell tumor,Disease,Disorder,,0019373,C48.2,,C0281508,D058405,10064581,6265,Desmoplastic small round cell tumor,"Adolescent, Adult",Not applicable
83468,Solitary bone cyst,Disease,Disorder,FB80.5,0019372,M85.4,,C0005937,,,,Solitary bone cyst,Childhood,Not applicable
83467,Morvan syndrome,Disease,Disorder,8E4A.3,0008718,G60.8,,C3854373,,10075006,9766,Morvan syndrome,Adult,
83465,Narcolepsy type 2,Disease,Disorder,7A20.1,0019371,G47.4,,C1456240,,,,Narcolepsy type 2,"Adolescent, Adult, Childhood",Unknown
83476,West-Nile encephalitis,Disease,Disorder,1C80,0019376,A92.3,610379,C0751583,D014901,,9959,West-Nile encephalitis,All ages,Not applicable
83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,Malformation syndrome,Disorder,,0019375,Q04.8,615937,C4302893,,,10341,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
83472,CAMOS syndrome,Malformation syndrome,Disorder,,0019374,G11.1,606937,C4511633,,,9977,CAMOS syndrome,"Infancy, Neonatal",Autosomal recessive
83471,T-cell immunodeficiency with thymic aplasia,Disease,Disorder,,0009451,D81.4,242700,C0152094,C536288,,,T-cell immunodeficiency with thymic aplasia,"Infancy, Neonatal",Autosomal recessive
83452,Complex regional pain syndrome,Disease,Disorder,MG30.04,0019369,G90.5,604335,C0458219,D020918,10064332,4647,Complex regional pain syndrome,All ages,Not applicable
83451,Florid cemento-osseous dysplasia,Disease,Disorder,DA07.3,0019368,D16.5,,C0555197,C537063,,10173,Florid cemento-osseous dysplasia,Adult,Not applicable
83450,Regional odontodysplasia,Disease,Disorder,DA07.3,0019367,K00.4,,C0206554,,,,Regional odontodysplasia,Childhood,Not applicable
83449,NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome,Disease,Disorder,,,,,,,,,,,
83463,Microtia,Morphological anomaly,Disorder,LA22.0,0010920,Q17.2,600674,C0152423,D065817,10027555,,Microtia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
83461,Congenital primary aphakia,Malformation syndrome,Disorder,LA12.2,0012456,Q12.3,610256,C1853230,C537786,10002947,9952,Congenital primary aphakia,"Antenatal, Infancy, Neonatal",Autosomal recessive
83454,Glomuvenous malformation,Malformation syndrome,Disorder,LC51,0007672,Q27.8,138000,C1841984,C536827,,,Glomuvenous malformation,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
83453,Vulvovaginal gingival syndrome,Disease,Disorder,EA91.3,0019370,L43.8,,C3873472,,,,Vulvovaginal gingival syndrome,Adult,Not applicable
514352,Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,Malformation syndrome,Disorder,,0034895,Q87.8,,C5680208,,,,Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,"Antenatal, Neonatal",
83618,Severe dilated cardiomyopathy due to lamin A/C mutation,Disease,Disorder,,,,,,,,,,,
83619,Macrostomia-preauricular tags-external ophthalmoplegia syndrome,Malformation syndrome,Disorder,,0019387,Q87.0,,C4509840,,,,Macrostomia-preauricular tags-external ophthalmoplegia syndrome,"Infancy, Neonatal",Autosomal dominant
83620,Enteric anendocrinosis,Disease,Disorder,DA90.Y,0012479,P78.3,610370,C1835888,C563673,,,Enteric anendocrinosis,"Infancy, Neonatal",Autosomal recessive
83628,LUMBAR syndrome,Malformation syndrome,Disorder,LD2F.1Y,0019388,Q87.8,,C4510867,,10082949,,LUMBAR syndrome,"Infancy, Neonatal",Unknown
83601,Steroid-responsive encephalopathy associated with autoimmune thyroiditis,Disease,Disorder,8E4A.0,0019385,G04.8,,C0393639,C535841,10069432,8570,Steroid-responsive encephalopathy associated with autoimmune thyroiditis,All ages,Not applicable
83616,Rubella panencephalitis,Disease,Disorder,1F02.0,,G05.1*,,C0238099,,,,Rubella panencephalitis,Childhood,Not applicable
83617,Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,Malformation syndrome,Disorder,4A01.00,0012508,Q87.0,610483,C4302680,,,10011,Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
83594,Eastern equine encephalitis,Disease,Disorder,1C84,0005736,A83.2,,C0153065,D020242,10014587,10821,Eastern equine encephalitis,All ages,Not applicable
83595,Colorado tick fever,Disease,Disorder,1D41,0005708,A93.2,,C0009400,D003121,10010022,,Colorado tick fever,All ages,Not applicable
83597,Acute disseminated encephalomyelitis,Disease,Disorder,8A42,0019383,G04.0,,C0014059,D004673,10000709,8639,Acute disseminated encephalomyelitis,All ages,Not applicable
83600,Encephalitis lethargica,Disease,Disorder,1C80,0019384,A85.8,,C0014040,,10052369,6332,Encephalitis lethargica,Adult,Not applicable
83482,Mycoplasma encephalitis,Disease,Disorder,1D00.0,0019377,B96.0,,C4707240,,,,Mycoplasma encephalitis,All ages,Not applicable
83483,La Crosse encephalitis,Disease,Disorder,1C8D,0019378,A83.5,,C0276379,D004670,10014584,10925,La Crosse encephalitis,All ages,Not applicable
83484,St. Louis encephalitis,Disease,Disorder,1C86,0005969,A83.3,,C0014060,D004674,10041896,,St. Louis encephalitis,All ages,Not applicable
83593,Western equine encephalitis,Disease,Disorder,1C83,0019380,A83.1,,C0153064,D020241,10014614,7888,Western equine encephalitis,All ages,Not applicable
84085,Hinman syndrome,Disease,Disorder,GC01.Y,0019395,N32.8,,C1997362,,,,Hinman syndrome,All ages,
84081,Senior-Boichis syndrome,Disease,Disorder,GB8Y,0019394,Q61.8,613550,C4274018,,,,Senior-Boichis syndrome,All ages,Autosomal recessive
84090,Fibronectin glomerulopathy,Disease,Disorder,MF81,0007671,N07.6,601894,C3888104,C536826,,,Fibronectin glomerulopathy,All ages,Autosomal dominant
84087,Collagen type III glomerulopathy,Disease,Disorder,GB4Y,0019396,N07.6,,C3872695,,,,,,
84064,Trichohepatoenteric syndrome,Disease,Disorder,DA90.0,0009105,K52.8,614602,C1857276,C565627,,5258,Trichohepatoenteric syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
84065,Idiopathic malabsorption due to bile acid synthesis defects,Disease,Disorder,DA96.02,0019393,K90.8,,C4274509,,,,,,
513436,Autosomal recessive spastic paraplegia type 78,Disease,Disorder,,0014975,G11.4,617225,C5567893,,,,Autosomal recessive spastic paraplegia type 78,"Adolescent, Adult, Childhood",Autosomal recessive
83639,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,Disease,Disorder,3B61.0Y,0012465,E88.8,610293,C4510605,,,9965,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,"Infancy, Neonatal",Autosomal recessive
83629,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,Disease,Disorder,,0010275,G37.8,300232,C4304743,,,4891,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,"Childhood, Infancy",X-linked recessive
513456,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,Disease,Disorder,,0054636,Q87.0,617616,C4539927,,,,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,Infancy,Autosomal dominant
83648,OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome,Disease,Disorder,,,,,,,,,,,
83642,Microcytic anemia with liver iron overload,Disease,Disorder,3A00.Y,0008787,D50.8,206100,C2673913,C567144,,12360,Microcytic anemia with liver iron overload,"Infancy, Neonatal",Autosomal recessive
85163,Hypomyelination-congenital cataract syndrome,Malformation syndrome,Disorder,,0012514,G37.8,610532,C1864663,C567166,,11980,Hypomyelination-congenital cataract syndrome,"Infancy, Neonatal",Autosomal recessive
85164,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,Disease,Disorder,LD2F.1Y,0012504,Q87.2,610474,C1864852,C537975,,10012,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
85146,"Neurogenic scapuloperoneal syndrome, Kaeser type",Disease,Disorder,,0008407,G12.1,181400,C1867005,C566695,,10312,"Neurogenic scapuloperoneal syndrome, Kaeser type",Adult,Autosomal dominant
85162,Facial onset sensory and motor neuronopathy,Disease,Disorder,,0019405,G60.0,,C4509818,,,12036,Facial onset sensory and motor neuronopathy,"Adult, Elderly",Unknown
85138,Addison disease,Disease,Disorder,5A74.0,0100480,E27.1,240200,C0001403,D000224,10001130,5740,Addison disease,All ages,Not applicable
85142,NON RARE IN EUROPE: Aldosterone-producing adenoma,Disease,Disorder,,,D35.0,,,,,,,,
85128,Bothnia retinal dystrophy,Disease,Disorder,9B70,0011838,H35.5,607475,C1843816,C564392,,,Bothnia retinal dystrophy,Childhood,Autosomal recessive
85136,Cystic leukoencephalopathy without megalencephaly,Disease,Disorder,5C55.2,0013058,E75.2,612951,C2751843,C567845,,13199,Cystic leukoencephalopathy without megalencephaly,"Infancy, Neonatal",Autosomal recessive
85110,Familial encephalopathy with neuroserpin inclusion bodies,Disease,Disorder,8A61.41,0011412,G31.8,604218,C1858680,C536841,,10037,Familial encephalopathy with neuroserpin inclusion bodies,"Adolescent, Adult, Childhood",Autosomal dominant
85112,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,Disease,Disorder,,0012530,Q56.0,610644,C4302748,,,,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,Childhood,Autosomal recessive
84271,Sporadic idiopathic steroid-resistant nephrotic syndrome,Clinical syndrome,Disorder,,,N04.3,,,,,,,,
85102,Perineurioma,Clinical group,Group of disorders,,0019404,,,C0751691,,,12698,,,
84132,Desmin-related myopathy with Mallory body-like inclusions,Disease,Disorder,4A41.21,0019398,G71.8,602771,C4275073,,,,Desmin-related myopathy with Mallory body-like inclusions,"Infancy, Neonatal",Autosomal recessive
84142,Isaacs syndrome,Disease,Disorder,8C71.4,0019399,G71.1,,C0242287,D020386,,6793,Isaacs syndrome,All ages,Not applicable
84093,Hereditary thermosensitive neuropathy,Disease,Disorder,8C20.Y,0011197,G60.0,602107,C1865856,C566575,,,Hereditary thermosensitive neuropathy,"Adolescent, Adult, Childhood",
84096,OBSOLETE: Unknown leukodystrophy,Disease,Disorder,,,,,,,,,,,
85186,Endosteal sclerosis-cerebellar hypoplasia syndrome,Malformation syndrome,Disorder,LD2F.1Y,0013722,Q87.8,614381,C3280644,C535353,,1195,Endosteal sclerosis-cerebellar hypoplasia syndrome,"Infancy, Neonatal",Autosomal recessive
85184,"Craniometadiaphyseal dysplasia, wormian bone type",Malformation syndrome,Disorder,LD24.1Y,0010014,Q78.8,269300,C4510809,,,,"Craniometadiaphyseal dysplasia, wormian bone type",Neonatal,Autosomal recessive
85182,Diaphyseal medullary stenosis-bone malignancy syndrome,Disease,Disorder,LD24.1Y,0007205,M89.8,112250,C1862177,C536169,,10072,Diaphyseal medullary stenosis-bone malignancy syndrome,,Autosomal dominant
85179,Infantile osteopetrosis with neuroaxonal dysplasia,Malformation syndrome,Disorder,LD24.10,0010866,Q78.2,600329,C4510764,,,10082,Infantile osteopetrosis with neuroaxonal dysplasia,"Infancy, Neonatal",Autosomal recessive
85175,Astley-Kendall dysplasia,Malformation syndrome,Disorder,LD24.04,0019408,Q77.3,,C1300228,C535392,,,Astley-Kendall dysplasia,"Antenatal, Neonatal",Autosomal recessive
85174,Pseudodiastrophic dysplasia,Malformation syndrome,Disorder,LD24.E,0009914,Q78.8,264180,C0432206,C535826,,9463,Pseudodiastrophic dysplasia,"Infancy, Neonatal",Autosomal recessive
85173,IMAGe syndrome,Malformation syndrome,Disorder,5A74.Y,0013873,Q87.1,618336,C1846009,C564543,,12312,IMAGe syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
85172,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",Disease,Disorder,LD24.D,0019407,Q78.8,618150,C4509877,,,,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",Neonatal,Autosomal recessive
85170,"Mesomelic dysplasia, Savarirayan type",Malformation syndrome,Disorder,LD24.A,0011530,Q78.8,605274,C1854470,C565349,,10584,"Mesomelic dysplasia, Savarirayan type","Infancy, Neonatal",Not applicable
85169,Familial digital arthropathy-brachydactyly,Malformation syndrome,Disorder,LD24.8Y,0011732,M06.8,606835,C1847406,C564656,,,Familial digital arthropathy-brachydactyly,"Infancy, Neonatal",Autosomal dominant
85168,Craniofacial conodysplasia,Malformation syndrome,Disorder,LD24.8Y,0019406,Q87.5,,C4303862,,,,Craniofacial conodysplasia,No data available,Autosomal dominant
85167,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,Disease,Disorder,LD24.4,0012160,Q77.8,608940,C4304887,,,10647,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,No data available,Autosomal recessive
85166,"Platyspondylic dysplasia, Torrance type",Malformation syndrome,Disorder,LD24.5Y,0007895,Q77.8,151210,C1835437,C563627,,4382,"Platyspondylic dysplasia, Torrance type","Antenatal, Infancy, Neonatal",Autosomal dominant
85165,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Disease,Disorder,LD24.0Y,0014658,Q77.4,616482,C2674173,,10082381,9443,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Childhood,"Autosomal dominant, Not applicable"
98118,OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly,Category,Group of disorders,,,,,,,,,,,
98119,OBSOLETE: Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly,Category,Group of disorders,,,,,,,,,,,
98120,OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly,Category,Group of disorders,,,,,,,,,,,
98121,OBSOLETE: Cys-loop receptor channelopathy,Category,Group of disorders,,,,,,,,,,,
603448,Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,Malformation syndrome,Disorder,,0035819,Q04.8,619273,C5543287,,,,Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,Neonatal,Autosomal dominant
98122,OBSOLETE: Channelopathy due to a neuronal glycine receptor defect,Category,Group of disorders,,,,,,,,,,,
98123,OBSOLETE: Channelopathy due to a neuronal kidney GABA receptor defect,Category,Group of disorders,,,,,,,,,,,
603515,Isolated female hypospadias,Morphological anomaly,Disorder,LB53.Y,0035821,Q54.8,,C5681495,,,,Isolated female hypospadias,Neonatal,
98124,OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect,Category,Group of disorders,,,,,,,,,,,
603494,Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,Malformation syndrome,Disorder,,0015014,Q87.8,617306,C4310625,,,,Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,"Antenatal, Neonatal",
98125,OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect,Category,Group of disorders,,,,,,,,,,,
603689,KLHL7-related Bohring-Opitz-like syndrome,Malformation syndrome,Disorder,,0035823,Q87.8,617055,C5680210,,,,KLHL7-related Bohring-Opitz-like syndrome,"Antenatal, Neonatal",Autosomal recessive
603684,KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome,Malformation syndrome,Disorder,,0014890,Q87.8,617055,C4310742,,,,KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome,Neonatal,Autosomal recessive
98127,Autosomal anomaly syndrome,Category,Group of disorders,,0020049,,,C5681496,,,,,,
603699,Recessive KLHL7-related disorder,Clinical group,Group of disorders,,,,,C5816693,,,,Recessive KLHL7-related disorder,,Autosomal recessive
603694,KLHL7-related Crisponi/cold-induced sweating-like syndrome,Disease,Disorder,,35824,Q87.8,,C5680211,,,,KLHL7-related Crisponi/cold-induced sweating-like syndrome,,Autosomal recessive
98130,Autosomal trisomy syndrome,Category,Group of disorders,,,,,C0041107,,,,,,
98131,Total autosomal trisomy syndrome,Category,Group of disorders,,,,,C5681498,,,,,,
98132,Partial autosomal duplication/triplication syndrome,Category,Group of disorders,,,,,C5816694,,,,,,
98103,OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect,Category,Group of disorders,,,,,,,,,,,
98102,OBSOLETE: Channelopathy due to an inwardly rectifying potassium channel defect,Category,Group of disorders,,,,,,,,,,,
98105,OBSOLETE: Channelopathy due to cyclic nucleotide-gated ion channels,Category,Group of disorders,,,,,,,,,,,
98104,OBSOLETE: Channelopathy due to a transient receptor potential channel defect,Category,Group of disorders,,,,,,,,,,,
98107,OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect,Category,Group of disorders,,,,,,,,,,,
98106,OBSOLETE: Channelopathy due to a calcium-activated potassium channel defect,Category,Group of disorders,,,,,,,,,,,
98109,OBSOLETE: Non-pore-loop channelopathy,Category,Group of disorders,,,,,,,,,,,
98108,OBSOLETE: Channelopathy due to a voltage-gated calcium channel defect,Category,Group of disorders,,,,,,,,,,,
98111,OBSOLETE: Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect,Category,Group of disorders,,,,,,,,,,,
98110,OBSOLETE: Channelopathy due to an epithelial sodium channel defect,Category,Group of disorders,,,,,,,,,,,
98113,OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly,Category,Group of disorders,,,,,,,,,,,
98112,OBSOLETE: Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect,Category,Group of disorders,,,,,,,,,,,
98115,OBSOLETE: Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly,Category,Group of disorders,,,,,,,,,,,
98114,OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly,Category,Group of disorders,,,,,,,,,,,
98117,OBSOLETE: Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly,Category,Group of disorders,,,,,,,,,,,
98116,OBSOLETE: Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly,Category,Group of disorders,,,,,,,,,,,
98152,Autosomal uniparental disomy syndrome,Category,Group of disorders,,,,,C5681500,,,,,,
98153,Maternal uniparental disomy syndrome,Category,Group of disorders,LD45.0,,,,C4518512,,,,,,
98156,Sex-chromosome number anomaly syndrome,Category,Group of disorders,,,,,C5680212,,,,,,
98157,Sex-chromosome structural anomaly syndrome,Category,Group of disorders,,,,,C5680213,,,,,,
98154,Paternal uniparental disomy syndrome,Category,Group of disorders,LD45.1,,,,C4518513,,,,,,
98155,Sex-chromosome anomaly syndrome,Category,Group of disorders,,0020058,,,C0036868,D012729,,,,,
98158,Chromosome Y structural anomaly syndrome,Category,Group of disorders,LD53,,Q98.6,,C4736190,,,,,,
98159,Chromosome X structural anomaly syndrome,Category,Group of disorders,,,,,C5681501,,,,,,
98141,Total autosomal monosomy syndrome,Category,Group of disorders,LD43.0,,,,C5681502,,,,,,
98142,Partial autosomal deletion syndrome,Category,Group of disorders,LD44.Y,,,,C5816695,,,,,,
98058,Rare urinary tract tumor,Category,Group of disorders,,,,,C5680215,,,,,,
98059,Rare digestive tumor,Category,Group of disorders,,,,,C5680216,,,,,,
98060,Rare respiratory tumor,Category,Group of disorders,,,,,C5680217,,,,,,
98061,Rare otorhinolaryngologic tumor,Category,Group of disorders,,,,,C5680218,,,,,,
98054,Rare genetic cardiac disease,Category,Group of disorders,,,,,C5681503,,,,,,
98056,Rare genetic renal disease,Category,Group of disorders,,,,,C5681504,,,,,,
98057,Rare tumor,Category,Group of disorders,,,,,C5680421,,,,,,
610573,CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,Disease,Disorder,,0030947,G31.8,619173,C5543020,,,,CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,Infancy,Autosomal dominant
98068,OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly,Category,Group of disorders,,,,,,,,,,,
98069,OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy,Category,Group of disorders,,,,,,,,,,,
98062,Rare nervous system tumor,Category,Group of disorders,,,,,C5680219,,,,,,
98063,Rare gynecological tumor,Category,Group of disorders,,,,,C5680220,,,,,,
610569,KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,Disease,Disorder,,0060631,Q68.8,617822,C4693347,,,,KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,"Antenatal, Neonatal",Autosomal recessive
98064,OBSOLETE: Rare disease in physical medicine and rehabilitation,Category,Group of disorders,,,,,,,,,,,
98043,Diaphragmatic or abdominal wall malformation,Category,Group of disorders,,,,,C5681505,,,,,,
98045,Respiratory or mediastinal malformation,Category,Group of disorders,,,,,C5681506,,,,,,
604680,Symptomatic form of X-linked centronuclear myopathy in female carriers,Disease,Disorder,,0035826,G71.2,310400,C5680221,,,,Symptomatic form of X-linked centronuclear myopathy in female carriers,"Childhood, Infancy, Neonatal",
98044,Central nervous system malformation,Category,Group of disorders,,0020022,,,C1839543,,,,,,
98039,Digestive tract malformation,Category,Group of disorders,,,,,C5681507,,,,,,
98038,Cranial malformation,Category,Group of disorders,,,,,C5681508,,,,,,
98041,"Visceral malformation of the liver, biliary tract, pancreas or spleen",Category,Group of disorders,,,,,C5681509,,,,,,
98050,Rare allergic disease,Category,Group of disorders,,,,,C5680222,,,,,,
98053,Rare genetic disease,Category,Group of disorders,,,,,C5681510,,,,,,
98052,Rare allergic respiratory disease,Category,Group of disorders,,,,,C5680223,,,,,,
98047,Rare infertility,Category,Group of disorders,,,,,C5681511,,,,,,
98049,Rare female infertility,Category,Group of disorders,,,,,C5681512,,,,,,
98048,Rare male infertility,Category,Group of disorders,,,,,C5681513,,,,,,
98086,"46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue",Category,Group of disorders,,,,,C5816696,,,,,,
98087,"Syndrome with 46,XY difference of sex development",Category,Group of disorders,,,,,C5680224,,,,,,
98101,OBSOLETE: Pore-loop channelopathy,Category,Group of disorders,,,,,,,,,,,
98098,Autosomal recessive degenerative and progressive cerebellar ataxia,Category,Group of disorders,,0020046,,,C5681515,,,,Autosomal recessive degenerative and progressive cerebellar ataxia,,Autosomal recessive
98099,Autosomal recessive syndromic cerebellar ataxia,Category,Group of disorders,,0020047,,,C5681516,,,,Autosomal recessive syndromic cerebellar ataxia,,Autosomal recessive
98096,Autosomal recessive metabolic cerebellar ataxia,Category,Group of disorders,,0020044,,,C5681517,,,,Autosomal recessive metabolic cerebellar ataxia,,Autosomal recessive
98097,Autosomal recessive cerebellar ataxia due to a DNA repair defect,Category,Group of disorders,,,G11.3,,C5681518,,,,Autosomal recessive cerebellar ataxia due to a DNA repair defect,,Autosomal recessive
98095,Autosomal recessive congenital cerebellar ataxia,Category,Group of disorders,,0020043,,,C5681519,,,,Autosomal recessive congenital cerebellar ataxia,,Autosomal recessive
611256,Pontocerebellar hypoplasia type 12,Malformation syndrome,Disorder,LD20.01,0032643,Q04.3,618266,C4748873,,,,Pontocerebellar hypoplasia type 12,"Antenatal, Neonatal",Autosomal recessive
611314,Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome,Category,Group of disorders,,,,,C5681520,,,,,,
611237,Parkinsonism with polyneuropathy,Disease,Disorder,,0036193,G20,619279,C5543299,,,,Parkinsonism with polyneuropathy,Adult,
611247,Pontocerebellar hypoplasia type 11,Malformation syndrome,Disorder,LD20.01,0054669,Q04.3,617695,C4540164,,,,Pontocerebellar hypoplasia type 11,"Antenatal, Neonatal",Autosomal recessive
98074,Gonadal dysgenesis of gynecological interest,Category,Group of disorders,,,,,C5681521,,,,,,
611216,Aplastic anemia-intellectual disability-dwarfism syndrome,Disease,Disorder,3A70.0,0030894,D61.0,619151,C5436906,,,,Aplastic anemia-intellectual disability-dwarfism syndrome,"Infancy, Neonatal",
98073,OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia,Category,Group of disorders,,,,,,,,,,,
611223,EN1-related dorsoventral syndrome,Malformation syndrome,Disorder,,0036192,Q87.2,619218,C5680225,,,,EN1-related dorsoventral syndrome,Neonatal,
611201,Oculogastrointestinal-neurodevelopmental syndrome,Malformation syndrome,Disorder,,0036189,Q87.8,619318,C5543355,,,,Oculogastrointestinal-neurodevelopmental syndrome,"Infancy, Neonatal",Autosomal recessive
98071,OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation,Category,Group of disorders,,,,,,,,,,,
611207,Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome,Clinical syndrome,Disorder,,0031007,Q87.8,619260,C5543257,,,,,,
98070,OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine,Category,Group of disorders,,,,,,,,,,,
613267,Pontocerebellar hypoplasia type 13,Malformation syndrome,Disorder,LD20.01,0032831,Q04.3,618606,C5231425,,,,Pontocerebellar hypoplasia type 13,Neonatal,Autosomal recessive
98085,"46,XY difference of sex development",Category,Group of disorders,,0020040,,,C2751824,D058490,,8538,,,
613274,Pontocerebellar hypoplasia type 14,Malformation syndrome,Disorder,LD20.01,0030258,Q04.3,619301,C5543322,,,,Pontocerebellar hypoplasia type 14,"Antenatal, Neonatal",Autosomal recessive
611327,Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability,Category,Group of disorders,,,,,C5680226,,,,,,
98078,"46,XX difference of sex development induced by androgens excess",Category,Group of disorders,,,,,C5680227,,,,,,
98255,Chronic encephalitis,Category,Group of disorders,,,,,C5681522,,,,,,
98258,OBSOLETE: Infantile epilepsy syndrome,Category,Group of disorders,,,,,,,,,,,
98257,OBSOLETE: Neonatal epilepsy syndrome,Category,Group of disorders,,,,,,,,,,,
98260,Adolescent-onset epilepsy syndrome,Category,Group of disorders,,0020073,,,C5681525,,,,,,
98259,Childhood-onset epilepsy syndrome,Category,Group of disorders,,0020072,,,C5681526,,,,,,
98261,Progressive myoclonic epilepsy,Clinical group,Group of disorders,8A61.41,0020074,,,C0751778,D020191,10089676,7140,Progressive myoclonic epilepsy,"Adolescent, Childhood, Infancy, Neonatal",
98249,Ehlers-Danlos syndrome,Clinical group,Group of disorders,LD28.1,0020066,Q79.6,,C0013720,D004535,10014316,6322,Ehlers-Danlos syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
600832,Legionella infection,Clinical group,Group of disorders,1C19,0005823,A48.1,,C0023240,D007876,10061266,,,,
98252,Infectious encephalitis,Category,Group of disorders,,,,,C0596773,D000069544,10058805,,,,
98253,OBSOLETE: Postinfectious encephalitis,Category,Group of disorders,,,,,,,,,,,
600668,CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,Disease,Disorder,,0035775,G93.8,618147,C5681527,,,,CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,Neonatal,Autosomal dominant
600663,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,Malformation syndrome,Disorder,,0035774,G96.8,614325,C5681528,,,,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,Neonatal,Autosomal recessive
600691,Combined deficiency of factor VII and factor X,Disease,Disorder,3B14.2,0035776,D68.2,,C5681529,,,,Combined deficiency of factor VII and factor X,"Adolescent, Adult, Childhood, Infancy, Neonatal",
600731,Clark-Baraitser syndrome,Malformation syndrome,Disorder,,0030914,Q87.8,617752,C2931130,C536208,,9994,Clark-Baraitser syndrome,"Childhood, Infancy, Neonatal",
98290,Immunodeficiency-associated lymphoproliferative disease,Category,Group of disorders,2B32,0020083,,,C5681530,,,,,,
98289,Dendritic cell tumor,Category,Group of disorders,,0020082,C96.4,,C5681852,,,8317,,,
98288,Macrophage or histiocytic tumor,Category,Group of disorders,,,,,C5681531,,,,,,
98287,Histiocytic and dendritic cell tumor,Category,Group of disorders,,0006247,,,C1334030,,,,,,
98293,Hodgkin lymphoma,Clinical group,Group of disorders,2B30,0004952,,,C0019829,D006689,10020206,2714,Hodgkin lymphoma,"Adolescent, Adult, Childhood, Elderly, Infancy",Multigenic/multifactorial
98292,Mastocytosis,Category,Group of disorders,2A21,0007950,,154800,C0024899,D008415,10026891,6987,Mastocytosis,All ages,
98291,Lymphoproliferative disease associated with primary immune disease,Category,Group of disorders,,,,,C5681532,,,,Lymphoproliferative disease associated with primary immune disease,Childhood,
98282,Plasma cell tumor,Category,Group of disorders,,0004959,,,C1959632,D054219,10035227,,,,
98274,Myeloproliferative neoplasm,Clinical group,Group of disorders,,0020076,,,C0027022,D009196,10077465,9319,Myeloproliferative neoplasm,All ages,
98277,Acute myeloid leukemia with recurrent genetic anomaly,Category,Group of disorders,2A60.0,,,601626,C4303425,,,12758,,,
98275,Myelodysplastic/myeloproliferative disease,Clinical group,Group of disorders,,0020077,,,C1301355,D054437,,9351,,,
98267,Genetic non-syndromic obesity,Disease,Disorder,5B81.Y,0020075,E66.8,,C5680229,,,,Genetic non-syndromic obesity,"Childhood, Infancy",Not applicable
98196,Malformation syndrome with hamartosis,Category,Group of disorders,,,,,C5680230,,,,,,
601028,Non-syndromic rectovaginal fistula,Morphological anomaly,Disorder,LB17.0,0035792,Q42.2,,C5680231,,,,Non-syndromic rectovaginal fistula,Neonatal,
601033,Non-syndromic H-type fistula,Morphological anomaly,Disorder,LB17.0,0035793,Q42.2,,C5680232,,,,Non-syndromic H-type fistula,Neonatal,
601008,Non-syndromic anal stenosis,Morphological anomaly,Disorder,LB17.0,0035788,Q42.3,,C5680233,,,,Non-syndromic anal stenosis,Neonatal,
601013,Non-syndromic pouch colon,Morphological anomaly,Disorder,LB17.0,0035789,Q42.1,,C5680234,,,,Non-syndromic pouch colon,Neonatal,
601018,Non-syndromic rectal atresia,Morphological anomaly,Disorder,LB17.0,0035790,Q42.0,,C5680235,,,,Non-syndromic rectal atresia,Neonatal,
601023,Non-syndromic rectal stenosis,Morphological anomaly,Disorder,LB17.0,0035791,Q42.0,,C5680236,,,,Non-syndromic rectal stenosis,Neonatal,
600984,Non-syndromic rectovesical fistula,Morphological anomaly,Disorder,LB17.0,0035784,Q42.2,,C5680237,,,,Non-syndromic rectovesical fistula,Neonatal,
600993,Non-syndromic vestibular fistula,Morphological anomaly,Disorder,LB17.0,0035785,Q42.2,,C5680238,,,,Non-syndromic vestibular fistula,Neonatal,
600998,Non-syndromic cloacal malformation,Morphological anomaly,Disorder,,0035786,Q43.7,,C5681533,,,,Non-syndromic cloacal malformation,Neonatal,
601002,Non-syndromic anorectal malformation without fistula,Morphological anomaly,Disorder,LB17.0,0035787,Q42.3,,C5680239,,,,Non-syndromic anorectal malformation without fistula,Neonatal,
600961,Non-syndromic rectourethral fistula,Morphological anomaly,Disorder,LB17.0,0035781,Q42.2,,C5680240,,,,Non-syndromic rectourethral fistula,Neonatal,
600952,Non-syndromic perineal fistula,Morphological anomaly,Disorder,LB17.0,0035780,Q42.2,,C5680241,,,,Non-syndromic perineal fistula,Neonatal,
600975,"Non-syndromic rectourethral fistula, prostatic type",Clinical subtype,Subtype of disorder,,0035783,Q42.2,,C5680242,,,,,,
600966,"Non-syndromic rectourethral fistula, bulbar type",Clinical subtype,Subtype of disorder,,0035782,Q42.2,,C5680243,,,,,,
98167,OBSOLETE: Diabetes associated to exocrine pancreas neoplasia,Category,Group of disorders,,,,,,,,,,,
98203,Combined dystonia,Category,Group of disorders,,0020065,,,C5680244,,,,,,
98204,OBSOLETE: Heredodegenerative disease with dystonia as a major feature,Category,Group of disorders,,,,,,,,,,,
97245,Congenital myopathy,Category,Group of disorders,8C72,0019952,G71.2,,C0270960,,10062547,5898,,,
97244,Rigid spine syndrome,Disease,Disorder,8C70.6,0019951,G71.2,620265,C0410180,C535683,,4723,Rigid spine syndrome,"Infancy, Neonatal",Autosomal recessive
97242,Congenital muscular dystrophy,Category,Group of disorders,8C70.6,0019950,,,C0699743,,,9138,Congenital muscular dystrophy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
97261,GRFoma,Disease,Disorder,2C10.1,0019955,C25.9,,C0346406,,,,GRFoma,Adult,Not applicable
97253,Neuroendocrine tumor of pancreas,Category,Group of disorders,,0019954,,,C4305467,,10067517,13034,Neuroendocrine tumor of pancreas,Adult,"Autosomal dominant, Not applicable"
97252,Mega-cisterna magna,Morphological anomaly,Disorder,,0019953,Q07.8,,C3164501,,,,,,
97249,Pontocerebellar hypoplasia type 3,Malformation syndrome,Disorder,LD20.01,0011948,Q04.3,608027,C1842687,C548072,,10708,Pontocerebellar hypoplasia type 3,Neonatal,Autosomal recessive
97279,Insulinoma,Disease,Disorder,2C10.1,5048,D13.7,,C0021670,D007340,10022498,3010,Insulinoma,All ages,Not applicable
97278,PPoma,Disease,Disorder,2C10.1,0019957,E16.8,,C0346407,,,,PPoma,Adult,Not applicable
97275,Encephalitis,Category,Group of disorders,,0019956,,,C0014038,D004660,10014581,,,,
97285,Thyroid lymphoma,Disease,Disorder,2B33.5,0019962,C85.7,,C1336753,,,,Thyroid lymphoma,No data available,
97283,Somatostatinoma,Disease,Disorder,2C10.1,0006976,E16.8,,C0037661,D013005,10041329,4900,Somatostatinoma,"Adult, Elderly",Unknown
97282,VIPoma,Disease,Disorder,2C10.1,0019960,E16.8,,C0011993,D003969,10047430,3787,VIPoma,All ages,Not applicable
97280,Glucagonoma,Disease,Disorder,2C10.1,0019959,E16.8,,C0017689,D005935,10018404,2496,Glucagonoma,Adult,Not applicable
97289,Thymic neuroendocrine tumor,Disease,Disorder,2C27.1,0019964,C37,,C1336746,,,,Thymic neuroendocrine tumor,"Adult, Elderly",
97290,Familial papillary thyroid carcinoma with renal papillary neoplasia,Disease,Disorder,2C90.Y,0011578,C73,605642,C4274358,,,,Familial papillary thyroid carcinoma with renal papillary neoplasia,Elderly,
97286,Carney-Stratakis syndrome,Disease,Disorder,2F7A.0,0011740,D44.8,606864,C1847319,C564650,,10643,Carney-Stratakis syndrome,"Adolescent, Adult",Autosomal dominant
97287,Bronchial neuroendocrine tumor,Disease,Disorder,2C25.Y,19963,D38.1,,C1334452,,,,Bronchial neuroendocrine tumor,"Adolescent, Adult, Childhood, Elderly",Not applicable
97293,Rare benign ovarian tumor,Category,Group of disorders,,,,,C5681535,,,,,,
97295,Furlong syndrome,Malformation syndrome,Disorder,,,,,C2931764,C538192,,,,,
97292,Cardiogenic shock,Particular clinical situation in a disease or syndrome,Disorder,MG40.0,0800175,R57.0,,C0036980,D012770,10007625,,Cardiogenic shock,"Adolescent, Adult, Childhood, Elderly",Not applicable
97332,Kienbock disease,Disease,Disorder,FB81.0,0019967,M93.1,,C0022682,,10064242,9690,Kienbock disease,Adult,
97335,Osgood-Schlatter disease,Disease,Disorder,FB82.1,0004241,M93.2,,C0029376,,10031130,,Osgood-Schlatter disease,"Adolescent, Childhood",Not applicable
97297,Bohring-Opitz syndrome,Malformation syndrome,Disorder,,0011510,Q87.8,605039,C0796232,C537419,,10140,Bohring-Opitz syndrome,"Antenatal, Neonatal",Autosomal dominant
97330,Thoracic outlet syndrome,Disease,Disorder,8B91.Y,0005979,G54.0,,C0039984,D013901,10048627,7759,Thoracic outlet syndrome,"Adult, Elderly",
97338,Melanoma of soft tissue,Disease,Disorder,,0019971,C43.7,,C0206651,,,,Melanoma of soft tissue,Adult,Not applicable
97339,Dural sinus malformation with arteriovenous shunt,Morphological anomaly,Disorder,LA90.2Y,0019972,Q28.3,,C3839148,,,,Dural sinus malformation with arteriovenous shunt,"Antenatal, Infancy, Neonatal",
97336,Panner disease,Disease,Disorder,FB82.1,0019969,M92.0,,C4759831,,,,Panner disease,Childhood,Not applicable
97337,Sinding-Larsen-Johansson disease,Disease,Disorder,FB82.1,0019970,M92.4,,C1504517,,10063585,,Sinding-Larsen-Johansson disease,"Adolescent, Childhood",Not applicable
97341,Persistent placoid maculopathy,Disease,Disorder,9B78.3Y,0019973,H35.3,,C4304823,,,,Persistent placoid maculopathy,"Adult, Elderly",
97340,Hunter-McAlpine syndrome,Malformation syndrome,Disorder,LD24.GY,0011065,Q87.0,601379,C1832408,C536072,,2754,Hunter-McAlpine syndrome,"Antenatal, Infancy, Neonatal",
97342,OBSOLETE: Argyrophilic grain disease,Disease,Disorder,,,,,,,,,,,
97346,ADan amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0007297,I68.0*,117300,C1861735,C538209,,9169,ADan amyloidosis,,Autosomal dominant
97345,ABri amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0008306,I68.0*,176500,C5190835,C538208,,8344,ABri amyloidosis,Adult,Autosomal dominant
97349,Postencephalitic parkinsonism,Disease,Disorder,8A00.22,0001945,G21.3,,C0030568,D010301,,19370,Postencephalitic parkinsonism,"Adult, Elderly",
97352,Pellagra,Disease,Disorder,5B5C.0,0019975,E52,,C0030783,D010383,10029400,10014,,,
97354,NON RARE IN EUROPE: Wernicke encephalopathy,Disease,Disorder,,,E51.2,,,,,,,,
97353,Dementia pugilistica,Disease,Disorder,8A00.25,0019976,F01.8,,C0149843,,10087801,,Dementia pugilistica,Adult,
97360,Robinow syndrome,Malformation syndrome,Disorder,LD24.A,0019978,Q87.1,616331,C0265205,C562492,10084325,312,Robinow syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
97355,Caribbean parkinsonism,Disease,Disorder,8A00.1Y,0019977,G20+,,C4275027,,,,Caribbean parkinsonism,"Adult, Elderly",
97361,"Renal hypoplasia, unilateral",Clinical subtype,Subtype of disorder,LB30.0Y,0019979,Q60.3,,C0431691,,,,"Renal hypoplasia, unilateral",All ages,Not applicable
97362,"Renal hypoplasia, bilateral",Clinical subtype,Subtype of disorder,LB30.0Y,0019980,Q60.4,,C0431692,,,,"Renal hypoplasia, bilateral",All ages,"Autosomal dominant, Not applicable"
97363,Unilateral multicystic dysplastic kidney,Clinical subtype,Subtype of disorder,LB30.9,0019981,Q61.4,,C1567426,,,,Unilateral multicystic dysplastic kidney,All ages,Autosomal dominant
97364,Bilateral multicystic dysplastic kidney,Clinical subtype,Subtype of disorder,LB30.9,0019982,Q61.4,,C1840451,C537373,,9517,Bilateral multicystic dysplastic kidney,"Antenatal, Neonatal",Autosomal dominant
97365,NON RARE IN EUROPE: Solitary renal cyst,Malformation syndrome,Disorder,,,,,,,,,,,
97366,Multiloculated renal cyst,Morphological anomaly,Disorder,,0019983,D30.0,,C0431719,,,,Multiloculated renal cyst,"Adult, Elderly, Infancy",
97367,Renal tubular dysgenesis due to twin-twin transfusion,Etiological subtype,Subtype of disorder,LB30.3,0019984,Q63.8,,C5438872,,,,Renal tubular dysgenesis due to twin-twin transfusion,,Not applicable
97368,Drug-related renal tubular dysgenesis,Etiological subtype,Subtype of disorder,LB30.3,0019985,Q63.8,,C5438798,,,,Drug-related renal tubular dysgenesis,,Not applicable
97369,Renal tubular dysgenesis of genetic origin,Etiological subtype,Subtype of disorder,LB30.3,0009970,Q63.8,267430,C5681536,,,,Renal tubular dysgenesis of genetic origin,,Autosomal recessive
97548,Right isomerism,Malformation syndrome,Disorder,LA8Y,0008832,Q20.6,208530,C3178806,,10068335,6795,Right isomerism,Neonatal,Autosomal recessive
97552,Steroid-sensitive nephrotic syndrome without renal biopsy,Etiological subtype,Subtype of disorder,,,,,,,,,,,
97555,OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy,Histopathological subtype,Subtype of disorder,,,,,,,,,,,
97556,Congenital and infantile nephrotic syndrome,Clinical group,Group of disorders,,,,,,,,,,,
97557,NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis,Disease,Disorder,,,N04.1,,,,,,,,
97560,Primary membranous glomerulonephritis,Disease,Disorder,GB40,0013860,N04.2,614692,C0086445,,,9180,Primary membranous glomerulonephritis,Adult,
96183,Maternal uniparental disomy of chromosome 9 syndrome,Malformation syndrome,Disorder,LD45.0,0019914,Q99.8,,C4707721,,,,Maternal uniparental disomy of chromosome 9 syndrome,"Antenatal, Neonatal",
96182,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,Etiological subtype,Subtype of disorder,LD2F.1Y,0019913,Q87.1,,C5680247,,,,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,"Antenatal, Neonatal",
96181,Maternal uniparental disomy of chromosome 6 syndrome,Malformation syndrome,Disorder,LD45.0,0019912,Q99.8,,C4707720,,,,Maternal uniparental disomy of chromosome 6 syndrome,"Antenatal, Neonatal",
96180,Maternal uniparental disomy of chromosome 4 syndrome,Malformation syndrome,Disorder,LD45.0,0019911,Q99.8,,C4707719,,,,Maternal uniparental disomy of chromosome 4 syndrome,"Antenatal, Neonatal",
96179,Maternal uniparental disomy of chromosome 2 syndrome,Malformation syndrome,Disorder,LD45.0,0019910,Q99.8,,C4707718,,,,Maternal uniparental disomy of chromosome 2 syndrome,"Antenatal, Neonatal",
96178,Ring chromosome 16 syndrome,Malformation syndrome,Disorder,LD7Y,0019909,Q93.2,,C4706449,,,10855,Ring chromosome 16 syndrome,"Antenatal, Infancy, Neonatal",
96177,Ring chromosome 15 syndrome,Malformation syndrome,Disorder,LD7Y,0019908,Q93.2,,C0795855,C538035,,1328,Ring chromosome 15 syndrome,"Antenatal, Infancy, Neonatal",
96176,Ring chromosome 13 syndrome,Malformation syndrome,Disorder,LD7Y,0019907,Q93.2,,C0795847,C538303,,6069,Ring chromosome 13 syndrome,"Antenatal, Childhood, Infancy, Neonatal",
96191,Paternal uniparental disomy of chromosome 6 syndrome,Malformation syndrome,Disorder,LD45.1,0019921,Q99.8,,C4749378,,,,Paternal uniparental disomy of chromosome 6 syndrome,"Antenatal, Neonatal",
96190,Paternal uniparental disomy of chromosome 5 syndrome,Malformation syndrome,Disorder,LD45.1,0019920,Q99.8,,C4749377,,,,Paternal uniparental disomy of chromosome 5 syndrome,"Antenatal, Neonatal",
96188,Maternal uniparental disomy of chromosome 22 syndrome,Malformation syndrome,Disorder,LD45.0,0019919,Q99.8,,C5190524,,,,Maternal uniparental disomy of chromosome 22 syndrome,"Antenatal, Infancy, Neonatal",
96187,Maternal uniparental disomy of chromosome 21 syndrome,Malformation syndrome,Disorder,LD45.0,0019918,Q99.8,,C5190523,,,,,,
96186,Maternal uniparental disomy of chromosome 20 syndrome,Malformation syndrome,Disorder,LD45.0,0019917,Q99.8,617352,C4275029,,,,Maternal uniparental disomy of chromosome 20 syndrome,"Antenatal, Neonatal",
96185,Maternal uniparental disomy of chromosome 16 syndrome,Malformation syndrome,Disorder,LD45.0,0019916,Q99.8,,C4750769,,,,Maternal uniparental disomy of chromosome 16 syndrome,"Antenatal, Neonatal",
96184,Temple syndrome due to maternal uniparental disomy of chromosome 14,Etiological subtype,Subtype of disorder,LD2Y,0019915,Q99.8,616222,C5680248,,,,Temple syndrome due to maternal uniparental disomy of chromosome 14,"Antenatal, Neonatal",
96194,Paternal uniparental disomy of chromosome 20 syndrome,Malformation syndrome,Disorder,LD45.1,0019924,Q99.8,,C4275028,,,,Paternal uniparental disomy of chromosome 20 syndrome,"Antenatal, Neonatal",
96195,Paternal uniparental disomy of chromosome 21 syndrome,Malformation syndrome,Disorder,LD45.1,0019925,Q99.8,,C4707801,,,,Paternal uniparental disomy of chromosome 21 syndrome,"Antenatal, Neonatal",
96192,Paternal uniparental disomy of chromosome 7 syndrome,Malformation syndrome,Disorder,LD45.1,0019922,Q99.8,,C4707802,,,,Paternal uniparental disomy of chromosome 7 syndrome,"Childhood, Infancy",
96193,Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11,Etiological subtype,Subtype of disorder,LD2C,0019923,Q87.3,,C5680249,,,,,,
96256,Somatotropic adenoma,Clinical group,Group of disorders,,,,102200,C0278864,,,,,,
96210,Rare genetic deafness,Category,Group of disorders,,,,,C5680250,,,,,,
96253,Cushing disease,Disease,Disorder,5A70.0,0009050,D35.2,219090,C0221406,D047748,10035109,12867,Cushing disease,Adult,Not applicable
96201,X small rings syndrome,Malformation syndrome,Disorder,LD51,0019926,Q99.8,,C4707824,,,,X small rings syndrome,"Antenatal, Neonatal",
96321,Polyploidy syndrome,Category,Group of disorders,LD42,0019934,Q92.7,,C0032578,D011123,,,,,
96269,Isolated partial vaginal agenesis,Morphological anomaly,Disorder,LB42.0,0019932,Q52.0,,C1261251,,,,,,
96264,"49,XXXXY syndrome",Malformation syndrome,Disorder,,0019929,Q98.1,,C0265499,,,5679,"49,XXXXY syndrome",Childhood,"Not applicable, Unknown"
96263,"48,XXXY syndrome",Malformation syndrome,Disorder,,0019928,Q98.1,,C0265498,,10048228,5676,"48,XXXY syndrome","Antenatal, Infancy, Neonatal","Not applicable, Unknown"
96266,Leydig cell hypoplasia due to partial LH resistance,Clinical subtype,Subtype of disorder,LD2A.3,0019931,Q56.1,238320,C5438975,,,,Leydig cell hypoplasia due to partial LH resistance,Neonatal,Autosomal recessive
96265,Leydig cell hypoplasia due to complete LH resistance,Clinical subtype,Subtype of disorder,LD2A.3,0019930,Q56.1,238320,C5438974,,,,Leydig cell hypoplasia due to complete LH resistance,Neonatal,Autosomal recessive
96344,Rare gynecologic or obstetric disease,Category,Group of disorders,,,,,C5681537,,,,,,
96346,Anorectal malformation,Category,Group of disorders,LB17.0,0019938,,,C3495676,D000071056,10082798,,,,
96325,Isochromosome Y syndrome,Category,Group of disorders,,0019935,,,C5681538,,,,,,
96334,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,Etiological subtype,Subtype of disorder,LD2Y,0011975,Q99.8,608149,C5680251,,,5409,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,"Infancy, Neonatal",
96333,Rare otorhinolaryngological malformation,Category,Group of disorders,,,,,C5681539,,,,,,
97120,Distal arthrogryposis,Clinical group,Group of disorders,,0019942,,108145,C0265213,,,,,,
97214,Eisenmenger syndrome,Malformation syndrome,Disorder,BB01.0,0019944,I27.2,,C0013743,,10058554,6323,Eisenmenger syndrome,"Adolescent, Adult, Childhood",Not applicable
96369,OBSOLETE: Early-onset schizophrenia,Disease,Disorder,,,,,,,,,,,
97234,Glycogen storage disease due to phosphoglycerate mutase deficiency,Disease,Disorder,5C51.3,0009865,E74.0,261670,C0268149,,,9964,Glycogen storage disease due to phosphoglycerate mutase deficiency,"Adolescent, Childhood",Autosomal recessive
97238,Rippling muscle disease,Disease,Disorder,8C71.Y,,G71.8,606072,C1853698,,10069417,9164,Rippling muscle disease,"Adolescent, Adult, Childhood, Elderly, Infancy","Autosomal dominant, Autosomal recessive"
97239,Reducing body myopathy,Disease,Disorder,8C72.Y,0019948,G71.2,300718,C0270970,,,12162,Reducing body myopathy,"Adult, Childhood, Infancy","Not applicable, X-linked dominant"
97240,Zebra body myopathy,Disease,Disorder,8C72.0Y,0019949,G71.2,,C0270969,,,,Zebra body myopathy,Neonatal,Unknown
97229,Riboflavin transporter deficiency,Malformation syndrome,Disorder,LD2H.Y,0008891,G12.2,614707,C4551777,C537111,10084089,9993,Riboflavin transporter deficiency,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
97230,Solar urticaria,Disease,Disorder,EB01.Y,0019945,L56.3,,C0263610,D000092130,10041307,,Solar urticaria,All ages,Not applicable
97231,Ligneous conjunctivitis,Disease,Disorder,,,,,C1274789,,10071570,6187,,,
97232,Fingerprint body myopathy,Disease,Disorder,8C72.Y,0010591,G71.2,305550,C1844560,C564425,,12720,Fingerprint body myopathy,Neonatal,
97978,Rare endocrine disease,Category,Group of disorders,,,,,C5681540,,,,,,
98004,Rare immune disease,Category,Group of disorders,,,,,C5681541,,,,,,
97992,Rare hematologic disease,Category,Group of disorders,,,,,C5681542,,,,,,
98006,Rare neurologic disease,Category,Group of disorders,,,,,C5680252,,,,,,
600194,Factor V Atlanta bleeding disorder,Etiological subtype,Subtype of disorder,3B14.Z,0035759,D68.4,,C5681543,,,,Factor V Atlanta bleeding disorder,No data available,Autosomal dominant
98010,Infectious disease of the nervous system,Category,Group of disorders,,0020010,,,C0597039,,,,,,
98033,Rare neurologic disease with psychiatric involvement,Category,Group of disorders,,,,,C5681544,,,,,,
98036,Rare otorhinolaryngologic disease,Category,Group of disorders,,,,,C5681545,,,,,,
98023,Rare systemic or rheumatologic disease,Category,Group of disorders,,,,,C5681546,,,,,,
98022,Rare headache,Category,Group of disorders,,0020011,,,C5681547,,,,,,
98027,Rare disease with odontological manifestation,Category,Group of disorders,,,,,C5681548,,,,,,
98026,Rare odontologic disease,Category,Group of disorders,,,,,C5681549,,,,,,
98028,Rare circulatory system disease,Category,Group of disorders,,,,,C5681550,,,,,,
97678,Maternal uniparental disomy of chromosome 13 syndrome,Malformation syndrome,Disorder,LD45.0,0019994,Q99.8,,C4722325,,,,Maternal uniparental disomy of chromosome 13 syndrome,Adult,
97599,OBSOLETE: Arterial hypertension due to renal artery stenosis secondary to vasculitis,Disease,Disorder,,,,,,,,,,,
97668,OBSOLETE: Neonatal membranous glomerulopathy with maternal NEP deficiency,Etiological subtype,Subtype of disorder,,,,,,,,,,,
97598,Congenital renal artery stenosis,Disease,Disorder,LA90.40,0019993,Q27.1,,C0495523,,,,Congenital renal artery stenosis,Neonatal,
97593,Pseudohypoparathyroidism,Category,Group of disorders,5A50.1,0019992,E20.1,,C0033806,D011547,10037126,10758,Pseudohypoparathyroidism,All ages,"Autosomal dominant, Not applicable"
97567,Immunotactoid glomerulopathy,Disease,Disorder,5D00.Y,0019991,N03.6,,C2242534,,10067871,12048,Immunotactoid glomerulopathy,Adult,Not applicable
97569,OBSOLETE: Unclassified glomerulonephritis,Category,Group of disorders,,,,,,,,,,,
97564,Pauci-immune glomerulonephritis without ANCA,Clinical subtype,Subtype of disorder,MF84,0019989,N05.7,,C5680253,,,,Pauci-immune glomerulonephritis without ANCA,"Adolescent, Adult, Childhood",Not applicable
97566,Non-amyloid fibrillary glomerulopathy,Disease,Disorder,GB4Y,0019990,N03.6,,C4273674,,,12740,Non-amyloid fibrillary glomerulopathy,Adult,Not applicable
97562,NON RARE IN EUROPE: Benign familial hematuria,Disease,Disorder,,,,,,,,,,,
97563,Pauci-immune glomerulonephritis with ANCA,Clinical subtype,Subtype of disorder,MF84,0019988,N05.7,,C5680254,,,,Pauci-immune glomerulonephritis with ANCA,"Adult, Elderly",Not applicable
97935,Rare gastroenterologic disease,Category,Group of disorders,,,,,C5681551,,,,,,
97929,Rare cardiac disease,Category,Group of disorders,,,,,C5681552,,,,,,
97927,OBSOLETE: Peripheral resistance to thyroid hormones,Disease,Disorder,,,,,,,,,,,
97685,17q11 microdeletion syndrome,Clinical subtype,Subtype of disorder,LD44.H0,0013357,Q85.0,613675,C5401456,C563524,,5408,17q11 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
97955,Rare respiratory disease,Category,Group of disorders,,,,,C5681553,,,,,,
97945,Intestinal malformation,Category,Group of disorders,,,,,C5681554,,,,,,
97944,Gastroduodenal malformation,Category,Group of disorders,,,,,C5681555,,,,,,
97966,Rare ophthalmic disorder,Category,Group of disorders,,,,,C5681556,,,,,,
97962,Rare surgical thoracic disease,Category,Group of disorders,,,,,C5681557,,,,,,
97965,Rare surgical cardiac disease,Category,Group of disorders,,,,,C5681558,,,,,,
97957,Respiratory or thoracic malformation,Category,Group of disorders,,0020001,,,C5681559,,,,,,
95707,Idiopathic isolated micropenis,Morphological anomaly,Disorder,LB50,,Q55.6,,C5681560,,,,Idiopathic isolated micropenis,Neonatal,
95708,Rare precocious puberty,Category,Group of disorders,,,,,C5681561,,,7446,,,
95706,Non-syndromic posterior hypospadias,Morphological anomaly,Disorder,LB53.4,0019848,Q54.3,146450,C5231010,,,,Non-syndromic posterior hypospadias,"Antenatal, Neonatal","Multigenic/multifactorial, X-linked recessive"
95701,OBSOLETE: Congenital adrenal hypoplasia of maternal cause,Disease,Disorder,,,,,,,,,,,
95702,X-linked adrenal hypoplasia congenita,Disease,Disorder,LC80,0010264,E27.1,300200,C0342482,,,555,X-linked adrenal hypoplasia congenita,"Childhood, Infancy",X-linked recessive
95715,Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies,Disease,Disorder,KB62.0,0019857,P72.2,,C4273914,,,,Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies,Neonatal,Not applicable
95716,Familial thyroid dyshormonogenesis,Disease,Disorder,5A00.00,0010132,E03.1,607200,C4273748,,,,Familial thyroid dyshormonogenesis,"Infancy, Neonatal",Autosomal recessive
95713,Athyreosis,Morphological anomaly,Disorder,5A00.01,0019855,E03.1,225250,C4305275,,,,Athyreosis,"Infancy, Neonatal",Autosomal dominant
95714,Primary congenital hypothyroidism without thyroid developmental anomaly,Category,Group of disorders,,,,,C5681562,,,,,,
95711,Congenital hypothyroidism due to developmental anomaly,Category,Group of disorders,,,E03.1,,C5680255,,,,,,
95712,Thyroid ectopia,Morphological anomaly,Disorder,5A00.01,0019854,E03.1,225250,C0345447,,,,Thyroid ectopia,"Infancy, Neonatal",Not applicable
95709,Rare acquired premature ovarian failure,Category,Group of disorders,,,E28.8,,C5925051,,,,,,
95710,Rare non-acquired premature ovarian failure,Category,Group of disorders,,,E28.3,,C5925052,,,,,,
95622,OBSOLETE: Radiation-induced hypopituitarism,Disease,Disorder,,,,,,,,,,,
95621,OBSOLETE: Postsurgical hypopituitarism,Disease,Disorder,,,,,,,,,,,
95619,Post-traumatic pituitary deficiency,Disease,Disorder,5A61.0,0019845,E23.1,,C0342400,,,,Post-traumatic pituitary deficiency,"Adolescent, Adult, Childhood, Elderly",
95618,Pituitary hormone deficiency secondary to storage disease,Category,Group of disorders,,,,,C5681565,,,,,,
95617,Pituitary hormone deficiency secondary to a granulomatous disease,Category,Group of disorders,,,,,C5681566,,,,,,
95615,OBSOLETE: Pituitary deficiency secondary to an anevrysm,Category,Group of disorders,,,,,,,,,,,
95614,OBSOLETE: Pituitary deficiency secondary to meningeal hemorrhage,Disease,Disorder,,,,,,,,,,,
95613,Pituitary apoplexy,Disease,Disorder,5A61.0,0006908,E23.6,,C0032001,D010899,10056447,,Pituitary apoplexy,All ages,Not applicable
95700,Familial adrenal hypoplasia with absent pituitary luteinizing hormone,Disease,Disorder,5A74.Y,0008731,E27.1,202150,C5190711,,,,Familial adrenal hypoplasia with absent pituitary luteinizing hormone,Infancy,Autosomal recessive
95699,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,Disease,Disorder,5A71.01,0013310,E25.0,613571,C1860042,,,12664,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,"Infancy, Neonatal",Autosomal recessive
95698,NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Disease,Disorder,,,,,,,,,,,
95626,Acquired arginine vasopressin deficiency,Clinical subtype,Subtype of disorder,5A61.5,0019846,E23.2,,C5680256,,,,Acquired arginine vasopressin deficiency,All ages,
95625,OBSOLETE: Posttraumatic diabetes insipidus,Disease,Disorder,,,,,,,,,,,
95623,OBSOLETE: Posttraumatic hypopituitarism,Disease,Disorder,,,,,,,,,,,
95504,OBSOLETE: Metastatic pituitary hormone deficiency,Category,Group of disorders,,,,,,,,,,,
95505,Pituitary hormone deficiency of meningeal origin,Category,Group of disorders,,,,,C5681567,,,,,,
95506,Primary hypophysitis,Clinical group,Group of disorders,,0019835,,,C0342410,D000069281,,,Primary hypophysitis,Adult,Not applicable
95507,Congenital anomaly of hepatic vein,Morphological anomaly,Disorder,LB20.0Y,0019836,Q26.8,,C3163825,,,,,,
95500,Congenital anomaly of the coronary sinus,Category,Group of disorders,LA86.Y,,,,C5681568,,,,,,
95501,OBSOLETE: Congenital central diabetes insipidus,Category,Group of disorders,,,,,,,,,,,
95502,Acquired pituitary hormone deficiency,Category,Group of disorders,,0019832,,,C5681569,,,,,,
95503,Pituitary hormone deficiency of tumoral origin,Category,Group of disorders,,,,,C5681570,,,,,,
95512,Adenohypophysitis,Disease,Disorder,5A61.0,0019838,E23.6,,C5190880,,,,Adenohypophysitis,"Adolescent, Adult",
95513,Panhypophysitis,Disease,Disorder,5A61.0,0019839,E23.6,,C5190786,,,,Panhypophysitis,"Adolescent, Adult, Childhood, Elderly",
95611,Pituitary hormone deficiency of vascular origin,Category,Group of disorders,,,,,C5681571,,,,,,
95510,Atrial appendage anomaly,Category,Group of disorders,,,Q20.8,,C5680257,,,,,,
95488,Non-acquired pituitary hormone deficiency,Category,Group of disorders,,0019824,,,C5681572,,,,,,
95491,Congenital coronary artery aneurysm,Morphological anomaly,Disorder,LA8C.Y,0019825,Q24.5,,C0340627,,,,,,
95485,Arterial duct anomaly,Category,Group of disorders,,,,,C5680258,,,,,,
95484,OBSOLETE: Aneurysm or dilatation of ascending aorta,Morphological anomaly,Disorder,,,,,,,,,,,
95487,NON RARE IN EUROPE: Atypical arterial duct,Disease,Disorder,,,,,,,,,,,
95486,Premature closure of the arterial duct,Morphological anomaly,Disorder,LA8B.Y,0019823,Q25.8,,C3532264,,,,,,
95496,Pituitary stalk interruption syndrome,Morphological anomaly,Disorder,5A61.0,0019828,E23.6,,C4053775,,10088621,13209,Pituitary stalk interruption syndrome,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable"
95499,Congenital anomaly of the inferior vena cava,Category,Group of disorders,LA86.Y,0019830,,,C0265932,,,,,,
95498,Congenital anomaly of superior vena cava,Category,Group of disorders,LA86.Y,0019829,,,C0265928,,,,,,
95493,OBSOLETE: Abnormal origin or aberrant course of coronary artery,Category,Group of disorders,,,,,,,,,,,
95495,Disease associated with non-acquired combined pituitary hormone deficiency,Category,Group of disorders,,,,,C5681573,,,,,,
95494,"Combined pituitary hormone deficiencies, genetic forms",Disease,Disorder,5A61.0,0013099,E23.0,613986,C4273747,,,10602,"Combined pituitary hormone deficiencies, genetic forms","Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
95443,Mesocardia,Morphological anomaly,Disorder,LA80.2,0019807,Q24.8,,C0265865,,,,,,
95448,Congenital aortic valve atresia,Clinical subtype,Subtype of disorder,LA8A.23,0019808,Q23.0,,C0265843,,10066801,,,,
95433,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,Disease,Disorder,8A03.1Y,0010061,G11.1,271250,C1849094,C537309,,9971,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,Childhood,Autosomal recessive
95434,Autosomal recessive cerebellar ataxia-movement disorder syndrome,Disease,Disorder,8A03.1Y,0011811,G11.1,607317,C1846492,C537310,,4952,Autosomal recessive cerebellar ataxia-movement disorder syndrome,"Adult, Childhood, Elderly, Infancy",Autosomal recessive
95457,Tricuspid valve agenesis,Morphological anomaly,Disorder,LA87.0Y,0019811,Q22.4,,C0685715,,,,,,
95458,OBSOLETE: Tricuspid valve prolapse,Morphological anomaly,Disorder,,,,,,,,,,,
95449,OBSOLETE: Congenital aortic valve insufficiency,Morphological anomaly,Disorder,,,,,,,,,,,
95455,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,Disease,Disorder,EB13,,L51.2,608579,C3658302,,,,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,All ages,Not applicable
95462,Accessory tricuspid valve tissue,Morphological anomaly,Disorder,LA87.0Y,0019815,Q22.8,,C5566613,,,,,,
95463,Anomaly of the tricuspid subvalvular apparatus,Category,Group of disorders,,,Q22.8,,C5681574,,,,,,
95459,Congenital tricuspid stenosis,Morphological anomaly,Disorder,LA87.01,0019813,Q22.4,,C0265836,,10010656,,Congenital tricuspid stenosis,"Infancy, Neonatal",
95461,Straddling or overriding tricuspid valve,Morphological anomaly,Disorder,LA87.0Y,0019814,Q22.8,,C5761644,,,,,,
95474,Double-orifice mitral valve,Clinical subtype,Subtype of disorder,LA87.1Y,0019819,Q23.8,,C0344770,,,,,,
95483,Univentricular cardiopathy,Category,Group of disorders,,0019820,,,C5681576,,,,,,
95464,Congenital mitral valve insufficiency and/or stenosis,Category,Group of disorders,,0019817,,,C5681577,,,,,,
95465,Cleft mitral valve,Morphological anomaly,Disorder,LA87.1Y,0019818,Q23.3,,C0344772,,,,,,
95157,Acute hepatic porphyria,Clinical group,Group of disorders,5C58.1Y,,,,,C562618,,,Acute hepatic porphyria,All ages,"Autosomal dominant, Autosomal recessive"
95232,Lissencephaly due to LIS1 mutation,Disease,Disorder,LD20.1,0011830,Q04.3,607432,C4749301,,,,Lissencephaly due to LIS1 mutation,"Antenatal, Infancy, Neonatal",Autosomal dominant
95161,OBSOLETE: Chronic hepatic porphyria,Clinical group,Group of disorders,,,,,,,,,,,
95159,Hepatoerythropoietic porphyria,Disease,Disorder,5C58.1Y,0019799,E80.2,176100,C0162569,D017121,,6169,Hepatoerythropoietic porphyria,Childhood,Autosomal recessive
95428,COG8-CDG,Disease,Disorder,5C54.2,0012635,E77.8,611182,C1970021,C566987,,12411,COG8-CDG,Childhood,Autosomal recessive
95427,Secondary short bowel syndrome,Disease,Disorder,DA96.04,0019802,K91.2,,C5681579,,,,Secondary short bowel syndrome,All ages,Not applicable
95426,OBSOLETE: Chronic pain requiring intraspinal analgesia,Particular clinical situation in a disease or syndrome,Disorder,,,,,,,,,,,
95409,Acute adrenal insufficiency,Clinical syndrome,Disorder,5A74.1,0019801,E27.2,,C0151467,,10001389,,Acute adrenal insufficiency,All ages,"Autosomal recessive, Not applicable, X-linked dominant"
95432,Primary progressive aphasia,Clinical group,Group of disorders,6D83,0019806,,,C0282513,D018888,10081268,8541,Primary progressive aphasia,Adult,"Multigenic/multifactorial, Not applicable"
95431,Twin to twin transfusion syndrome,Disease,Disorder,JA8A.0,0019805,O43.0,,C2909036,D005330,10058328,325,,,
95430,Congenital tracheomalacia,Morphological anomaly,Disorder,LA73.1,0019804,Q32.0,,C0392109,C557675,10010654,10515,Congenital tracheomalacia,Infancy,No data available
95429,Angioma serpiginosum,Disease,Disorder,LC50.Y,0019803,L81.7,300652,C0263637,,10086217,,Angioma serpiginosum,Childhood,"Autosomal dominant, Not applicable, X-linked recessive"
94091,Mills syndrome,Disease,Disorder,8B60.Y,0035892,G12.2,,C5191669,,,,Mills syndrome,"Adolescent, Adult, Childhood, Elderly",
94093,Neuroleptic malignant syndrome,Disease,Disorder,8A0Y,0019790,G21.0,,C0027849,D009459,10029282,7195,Neuroleptic malignant syndrome,All ages,Unknown
94095,OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
94122,"Cerebellar ataxia, Cayman type",Disease,Disorder,,0011025,G11.0,601238,C1832585,,,,"Cerebellar ataxia, Cayman type","Infancy, Neonatal",Autosomal recessive
94124,Spinocerebellar ataxia with axonal neuropathy type 1,Disease,Disorder,,0011801,G60.2,607250,C4759870,,,10000,Spinocerebellar ataxia with axonal neuropathy type 1,Adolescent,Autosomal recessive
94125,Recessive mitochondrial ataxia syndrome,Disease,Disorder,5C53.21,0019791,G11.8,,C4760799,,,,Recessive mitochondrial ataxia syndrome,"Adolescent, Childhood",Autosomal recessive
94145,Autosomal dominant cerebellar ataxia type I,Clinical group,Group of disorders,,0019792,,,C5680259,,,,Autosomal dominant cerebellar ataxia type I,All ages,Autosomal dominant
94147,Spinocerebellar ataxia type 7,Disease,Disorder,8A03.16,0016163,G11.8,164500,C0752125,,,4955,Spinocerebellar ataxia type 7,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal dominant
94148,Autosomal dominant cerebellar ataxia type III,Clinical group,Group of disorders,,0019793,,,C5680260,,,,Autosomal dominant cerebellar ataxia type III,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
94149,Autosomal dominant cerebellar ataxia type IV,Clinical group,Group of disorders,,0019794,,,C5680261,,,,Autosomal dominant cerebellar ataxia type IV,,Autosomal dominant
94150,Anonychia congenita totalis,Clinical subtype,Subtype of disorder,EC22.0,0008798,Q84.3,206800,C3277900,,,,Anonychia congenita totalis,,Autosomal recessive
94064,Deafness-infertility syndrome,Malformation syndrome,Disorder,LD2H.Y,0012621,Q93.5,611102,C1970187,C567010,,11911,Deafness-infertility syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
94063,12q14 microdeletion syndrome,Malformation syndrome,Disorder,LD2F.1Y,0019784,Q93.5,166700,C4305140,,,13390,12q14 microdeletion syndrome,Childhood,Unknown
94066,Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,Malformation syndrome,Disorder,,0019786,Q87.8,,C4510007,,,,Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,"Infancy, Neonatal",Autosomal recessive
94065,15q24 microdeletion syndrome,Etiological subtype,Subtype of disorder,LD44.F,0013256,Q93.5,613406,C3697269,C579849,,12219,15q24 microdeletion syndrome,Childhood,"Not applicable, Unknown"
94068,Spondyloepiphyseal dysplasia congenita,Disease,Disorder,LD24.3,0008471,Q77.7,183900,C2745959,C535788,10062920,4987,Spondyloepiphyseal dysplasia congenita,"Antenatal, Neonatal",Autosomal dominant
94075,Severe immune-mediated enteropathy,Category,Group of disorders,,,,,C0341305,,10081456,8689,,,
94083,Partington syndrome,Malformation syndrome,Disorder,LD90.Y,0010654,G93.4,309510,C0796250,C536300,,4235,Partington syndrome,Childhood,X-linked recessive
94080,Non-functioning paraganglioma,Disease,Disorder,2F9A,0019788,D44.7,,C4707263,,,,Non-functioning paraganglioma,"Adolescent, Adult, Childhood, Elderly",
94086,Blue diaper syndrome,Disease,Disorder,5C60.Y,0008877,E70.8,211000,C0268478,C536239,,5939,Blue diaper syndrome,"Infancy, Neonatal",
94084,Cerebro-oculo-facial-lymphatic syndrome,Malformation syndrome,Disorder,,,,,C1853623,,,,,,
94088,Hereditary renal hypouricemia,Malformation syndrome,Disorder,GB90.4Y,0009071,N25.8,612076,C4551590,,,9496,Hereditary renal hypouricemia,All ages,Autosomal recessive
94087,Cytophagic histiocytic panniculitis,Disease,Disorder,EE8Y,0019789,M35.8,,C0406594,,10081137,,Cytophagic histiocytic panniculitis,Adult,Unknown
94090,Pseudohypoparathyroidism type 2,Disease,Disorder,5A50.1,0008749,E20.1,203330,C2932717,C548077,,10682,Pseudohypoparathyroidism type 2,All ages,Not applicable
94089,Pseudohypoparathyroidism type 1B,Disease,Disorder,5A50.1,0011301,E20.1,603233,C1864100,C548075,,10680,Pseudohypoparathyroidism type 1B,"Adolescent, Childhood, Infancy, Neonatal","Autosomal dominant, Not applicable"
96175,Ring chromosome 11 syndrome,Malformation syndrome,Disorder,LD7Y,0019906,Q93.2,,C0265444,,,10846,Ring chromosome 11 syndrome,"Antenatal, Infancy, Neonatal",
96173,Ring chromosome 9 syndrome,Malformation syndrome,Disorder,LD7Y,0019905,Q93.2,,C0265430,C538022,,1348,Ring chromosome 9 syndrome,"Antenatal, Neonatal",
96172,Ring chromosome 3 syndrome,Malformation syndrome,Disorder,LD7Y,0019904,Q93.2,,C4707449,,,10839,Ring chromosome 3 syndrome,"Antenatal, Infancy, Neonatal",
96171,Ring chromosome 2 syndrome,Malformation syndrome,Disorder,LD7Y,0019903,Q93.2,,C4707448,,,10837,Ring chromosome 2 syndrome,"Antenatal, Infancy, Neonatal",
96170,Emanuel syndrome,Malformation syndrome,Disorder,LD41.Q,0012176,Q92.6,609029,C1836929,C535733,10079203,9835,Emanuel syndrome,"Antenatal, Neonatal",
96169,Koolen-De Vries syndrome,Malformation syndrome,Disorder,LD24.GY,0012496,Q87.8,610443,,,,10727,Koolen-De Vries syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
96168,Monosomy 13q34 syndrome,Malformation syndrome,Disorder,LD44.D,0019902,Q93.5,619148,C4707797,,,,Monosomy 13q34 syndrome,"Antenatal, Neonatal",Not applicable
96167,Recombinant 8 syndrome,Malformation syndrome,Disorder,LD41.P,0008365,Q99.8,179613,C0795822,C535296,,9698,Recombinant 8 syndrome,"Infancy, Neonatal",Unknown
96164,OBSOLETE: Non-distal monosomy 20q,Malformation syndrome,Disorder,,,,,,,,,,,
96160,Non-distal deletion 12q syndrome,Malformation syndrome,Disorder,,0019900,Q93.5,,C5190525,,,,Non-distal deletion 12q syndrome,Neonatal,
96152,OBSOLETE: Distal monosomy 20q,Malformation syndrome,Disorder,,,,,,,,,,,
96150,Distal deletion 14q syndrome,Malformation syndrome,Disorder,,0019898,Q93.5,,C4749276,,,,Distal deletion 14q syndrome,Neonatal,
96148,Distal deletion 10q syndrome,Malformation syndrome,Disorder,LD44.A0,0012315,Q93.5,609625,C4305277,,,3711,Distal deletion 10q syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
96149,Distal deletion 12q syndrome,Malformation syndrome,Disorder,LD44.C0,0019897,Q93.5,,C5438460,,,,Distal deletion 12q syndrome,Neonatal,
96147,Kleefstra syndrome due to 9q34 microdeletion,Etiological subtype,Subtype of disorder,LD2F.1Y,0019896,Q87.8,610253,C0795833,,,,Kleefstra syndrome due to 9q34 microdeletion,"Infancy, Neonatal",Not applicable
96145,Distal deletion 4q syndrome,Malformation syndrome,Disorder,LD44.40,0019895,Q93.5,,C5190514,,,,Distal deletion 4q syndrome,"Infancy, Neonatal",
96136,OBSOLETE: Non-distal monosomy 7p,Malformation syndrome,Disorder,,,,,,,,,,,
96129,Distal deletion 19p syndrome,Malformation syndrome,Disorder,LD44.K1,0019893,Q93.5,,C4749277,,,,Distal deletion 19p syndrome,"Antenatal, Neonatal",
96125,Distal deletion 6p syndrome,Malformation syndrome,Disorder,LD44.61,0012948,Q93.5,612582,C4305276,,,,Distal deletion 6p syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
96126,Distal deletion 7p syndrome,Malformation syndrome,Disorder,LD44.71,0019892,Q93.5,,C5190515,,,,Distal deletion 7p syndrome,"Antenatal, Neonatal",
96121,7q11.23 microduplication syndrome,Malformation syndrome,Disorder,LD41.60,0012342,Q92.3,609757,C4512054,,,12076,7q11.23 microduplication syndrome,"Infancy, Neonatal",
96123,Monosomy 22 syndrome,Malformation syndrome,Disorder,,0019891,Q93.0,,C0795878,,,,Monosomy 22 syndrome,Neonatal,
96112,Non-distal duplication 9q syndrome,Malformation syndrome,Disorder,LD41.80,0019890,Q92.3,,C4707261,,,,Non-distal duplication 9q syndrome,Neonatal,
96107,Distal duplication 20q syndrome,Malformation syndrome,Disorder,LD41.K0,0019888,Q92.3,,C4706935,,,,Distal duplication 20q syndrome,"Antenatal, Neonatal",
96106,Distal duplication 16q syndrome,Malformation syndrome,Disorder,LD41.F0,0019887,Q92.3,,C4706934,,,,Distal duplication 16q syndrome,"Antenatal, Neonatal",
96105,Distal duplication 13q syndrome,Malformation syndrome,Disorder,LD41.C,0019886,Q92.3,,C4706933,,,,Distal duplication 13q syndrome,"Antenatal, Neonatal",
96109,Distal duplication 22q syndrome,Malformation syndrome,Disorder,LD41.M,0019889,Q92.3,,C4706936,,,,Distal duplication 22q syndrome,"Antenatal, Neonatal",
96098,Distal duplication 6q syndrome,Malformation syndrome,Disorder,LD41.50,0019881,Q92.3,,C0795817,C537810,,,Distal duplication 6q syndrome,"Antenatal, Neonatal",
96097,Distal duplication 5q syndrome,Malformation syndrome,Disorder,LD41.40,0019880,Q92.3,,C4706363,,,,Distal duplication 5q syndrome,Neonatal,
96096,Distal duplication 4q syndrome,Malformation syndrome,Disorder,LD41.30,0019879,Q92.3,,C4706362,,,,Distal duplication 4q syndrome,"Antenatal, Neonatal",
96103,Distal duplication 11q syndrome,Malformation syndrome,Disorder,,0019885,Q92.3,,C2931797,C538294,,,Distal duplication 11q syndrome,"Antenatal, Neonatal",
96102,Distal duplication 10q syndrome,Malformation syndrome,Disorder,LD41.90,0019884,Q92.3,,C2931728,C538087,,,Distal duplication 10q syndrome,"Infancy, Neonatal",
96101,Distal duplication 9q syndrome,Malformation syndrome,Disorder,LD41.80,0019883,Q92.3,,C4706939,,,,Distal duplication 9q syndrome,"Antenatal, Neonatal",
96100,Distal duplication 8q syndrome,Malformation syndrome,Disorder,LD41.70,0019882,Q92.3,,C4706365,,,,Distal duplication 8q syndrome,"Antenatal, Neonatal",
96094,Distal duplication 2q syndrome,Malformation syndrome,Disorder,,0019877,Q92.3,,C4706361,,,,Distal duplication 2q syndrome,"Infancy, Neonatal",
96095,3q26 microduplication syndrome,Malformation syndrome,Disorder,LD41.20,0019878,Q92.3,,C4755319,,,,3q26 microduplication syndrome,"Antenatal, Neonatal",
96092,8p inverted duplication/deletion syndrome,Malformation syndrome,Disorder,LD41.P,0019876,Q99.8,,C4273676,,,,8p inverted duplication/deletion syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
96072,4p16.3 microduplication syndrome,Malformation syndrome,Disorder,LD41.31,0019873,Q92.3,,C4512053,,,,4p16.3 microduplication syndrome,"Infancy, Neonatal",
96074,Distal duplication 7p syndrome,Malformation syndrome,Disorder,LD41.61,0019874,Q92.3,,C4706364,,,,Distal duplication 7p syndrome,"Antenatal, Neonatal",
96076,Beckwith-Wiedemann syndrome due to 11p15 microduplication,Etiological subtype,Subtype of disorder,LD2C,0019875,Q87.3,,C5681581,,,,,,
96078,16p13.3 microduplication syndrome,Malformation syndrome,Disorder,,0013273,Q92.3,613458,C4518796,,,10755,16p13.3 microduplication syndrome,"Infancy, Neonatal",
96069,Distal duplication 1p36 syndrome,Malformation syndrome,Disorder,LD41.01,0019870,Q92.3,,C4707665,,,,Distal duplication 1p36 syndrome,"Infancy, Neonatal",
96068,Mosaic trisomy 22 syndrome,Malformation syndrome,Disorder,LD40.Y,0019869,Q92.1,,C2931327,C536796,,6085,Mosaic trisomy 22 syndrome,"Antenatal, Neonatal",
96071,Distal duplication 3p syndrome,Malformation syndrome,Disorder,LD41.21,0019872,Q92.3,,C4706938,,,,Distal duplication 3p syndrome,"Antenatal, Neonatal",
96070,Distal duplication 2p syndrome,Malformation syndrome,Disorder,LD41.11,0019871,Q92.3,,C4706937,,,,Distal duplication 2p syndrome,Neonatal,
96059,Mosaic trisomy 4 syndrome,Malformation syndrome,Disorder,LD40.Y,0019865,Q92.1,,C4272018,,,,Mosaic trisomy 4 syndrome,"Antenatal, Neonatal",
96060,Mosaic trisomy 5 syndrome,Malformation syndrome,Disorder,LD40.Y,0019866,Q92.1,,C2931603,,,,Mosaic trisomy 5 syndrome,"Antenatal, Neonatal",
96061,Mosaic trisomy 8 syndrome,Malformation syndrome,Disorder,LD40.Y,0019867,Q92.1,,C1096527,C537940,10053916,5359,Mosaic trisomy 8 syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
96063,Mosaic trisomy 10 syndrome,Malformation syndrome,Disorder,LD40.Y,0019868,Q92.1,,C2931794,,,,Mosaic trisomy 10 syndrome,"Antenatal, Neonatal",
95717,Idiopathic congenital hypothyroidism,Disease,Disorder,5A00.0Y,0019858,E03.1,,C4273913,,,,Idiopathic congenital hypothyroidism,"Infancy, Neonatal",
95718,Congenital thyroid malformation without hypothyroidism,Category,Group of disorders,,,,,C5681582,,,,,,
95719,Thyroid hemiagenesis,Morphological anomaly,Disorder,5A00.01,0019860,E03.1,218700,C4023190,,10077609,,Thyroid hemiagenesis,Neonatal,Not applicable
95720,Thyroid hypoplasia,Morphological anomaly,Disorder,5A00.01,0019861,E03.1,225250,C0151516,,10065938,8426,Thyroid hypoplasia,"Infancy, Neonatal","Autosomal dominant, Not applicable"
95721,OBSOLETE: Thyroid pyramidal lobe,Morphological anomaly,Disorder,,,,,,,,,,,
95854,Levocardia,Morphological anomaly,Disorder,LA80.0,0019862,Q24.1,,C0023569,D007979,10071015,12032,,,
96055,Tetrasomy 21 syndrome,Malformation syndrome,Disorder,LD7Y,0019864,Q99.8,,C4707057,,,12480,Tetrasomy 21 syndrome,"Antenatal, Infancy, Neonatal",
597623,IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,Disease,Disorder,,0060759,G93.8,618088,C5681583,,,,IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
93547,Syndromic renal or urinary tract malformation,Category,Group of disorders,,,,,C5681584,,,,,,
93546,Non-syndromic renal or urinary tract malformation,Category,Group of disorders,,,,,C5681585,,,,,,
597733,Oculocutaneous albinism type 8,Disease,Disorder,EC23.20,0030899,E70.3,619165,C5436929,,,,Oculocutaneous albinism type 8,Childhood,Autosomal recessive
597738,Luscan-Lumish syndrome,Malformation syndrome,Disorder,LD2C,0014791,Q87.3,616831,C4085873,,,,Luscan-Lumish syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
93548,Glomerular disease,Category,Group of disorders,,0019722,,,C0268731,,,,,,
93545,Renal or urinary tract malformation,Category,Group of disorders,,0019719,,,C1968949,C566906,,,,,
597887,ALPI-related inflammatory bowel disease,Disease,Disorder,DD7Y,0035370,K52.8,,C5681586,,,,ALPI-related inflammatory bowel disease,"Adolescent, Infancy",Autosomal recessive
93555,Mixed cryoglobulinemia type III,Etiological subtype,Subtype of disorder,4A44.90,0019727,D89.1,,C5680263,,,,Mixed cryoglobulinemia type III,All ages,
93554,Mixed cryoglobulinemia type II,Etiological subtype,Subtype of disorder,4A44.90,0019726,D89.1,,C5680264,,,,Mixed cryoglobulinemia type II,All ages,
93557,Light and heavy chain deposition disease,Clinical subtype,Subtype of disorder,2A83.51,0019729,D89.8,,C5204117,,,,,,
597939,Euthyroid dysprealbuminemic hyperthyroxinemia,Disease,Disorder,5A0Y,0036045,E07.8,145680,C5680265,,,,Euthyroid dysprealbuminemic hyperthyroxinemia,Adult,Autosomal dominant
93556,Heavy chain deposition disease,Clinical subtype,Subtype of disorder,2A83.50,0019728,D89.8,,C1333947,,,,,,
597743,SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,Malformation syndrome,Disorder,LD2F.1Y,0035706,Q87.8,620157,C5681587,,,,SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,Neonatal,Autosomal dominant
93551,OBSOLETE: Secondary glomerular disease,Category,Group of disorders,,,,,,,,,,,
597746,Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,Malformation syndrome,Disorder,,0035707,Q87.8,,C5681588,,,,Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,"Antenatal, Neonatal",
93550,OBSOLETE: Basement membrane disease,Category,Group of disorders,,,,,,,,,,,
597749,KAT6B-related multiple congenital anomalies syndrome,Clinical group,Group of disorders,,,,,C5680266,,,,,,
93552,Pediatric systemic lupus erythematosus,Disease,Disorder,4A40.0Y,0019725,M32.9,,C1274834,,,,Pediatric systemic lupus erythematosus,"Adolescent, Childhood, Infancy, Neonatal",Not applicable
597874,MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,Disease,Disorder,,0032705,E88.8,618367,C5193057,,,,MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
93562,AFib amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0019733,E85.0,105200,C5680267,,,,AFib amyloidosis,,Autosomal dominant
598216,Upper tract urothelial carcinoma,Disease,Disorder,,0020659,C66,,C0220648,,10044407,9376,Upper tract urothelial carcinoma,No data available,
93564,OBSOLETE: Pediatric polyarteritis nodosa,Clinical subtype,Subtype of disorder,,,,,,,,,,,
598603,Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,Malformation syndrome,Disorder,,0032714,Q87.8,618381,C5193066,,,,Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
598363,Multisystem inflammatory syndrome in children and adults,Disease,Disorder,RA03,0035375,U10.9,,C5680268,,,,Multisystem inflammatory syndrome in children and adults,Childhood,
93558,Light chain deposition disease,Clinical subtype,Subtype of disorder,2A83.52,0019730,D89.8,,C0238239,,,6906,,,
93559,C3 deposition glomerulonephritis without proliferation,Disease,Disorder,,,,,,,,,,,
598164,FOXG1 syndrome due to intragenic alteration,Clinical subtype,Subtype of disorder,,0035713,Q04.8,,C5681589,,,,FOXG1 syndrome due to intragenic alteration,,Autosomal dominant
93560,AApoAI amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0019731,E85.0,105200,C5680269,,,,AApoAI amyloidosis,,Autosomal dominant
93561,ALys amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0019732,E85.0,105200,C5680270,,,,ALys amyloidosis,,Autosomal dominant
93571,Dense deposit disease,Histopathological subtype,Subtype of disorder,GB40,0019736,N03.6,609814,C0268743,,,8555,Dense deposit disease,Childhood,Autosomal recessive
93573,Thrombotic microangiopathy,Clinical group,Group of disorders,,0019737,,,C2717961,D057049,10043645,,,,
93566,OBSOLETE: Pediatric Sjögren syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
93567,OBSOLETE: Pediatric systemic sclerosis,Clinical subtype,Subtype of disorder,,,,,,,,,,,
93568,Juvenile polymyositis,Disease,Disorder,4A41.10,0019734,M33.2,,C3826988,,10076673,12742,Juvenile polymyositis,"Adolescent, Childhood",
93569,NON RARE IN EUROPE: Polymyalgia rheumatica,Disease,Disorder,FA22,0019735,,,,,,,,,
93448,Lysosomal storage disease with skeletal involvement,Category,Group of disorders,,0800088,,,C5848292,,,,,,
597201,TRIM22-related inflammatory bowel disease,Disease,Disorder,DD7Y,0035362,K52.8,,C5680271,,,,TRIM22-related inflammatory bowel disease,Neonatal,Autosomal recessive
93447,Primary bone dysplasia with defective bone mineralization,Category,Group of disorders,,,,,C5680272,,,,,,
93446,Primary bone dysplasia with decreased bone density,Category,Group of disorders,,,,,C5680273,,,,,,
93445,OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement,Category,Group of disorders,,,,,,,,,,,
93444,Primary bone dysplasia with increased bone density,Category,Group of disorders,,,,,C5680274,,,,,,
93443,Neonatal osteosclerotic dysplasia,Clinical group,Group of disorders,,0019702,,,C1300205,,,,,,
93442,Chondrodysplasia punctata,Clinical group,Group of disorders,LD24.04,0019701,,,C0008445,D002806,10087150,8542,,,
93441,Primary bone dysplasia with multiple joint dislocations,Clinical group,Group of disorders,LD24.E,,,,C5680275,,,,,,
93456,OBSOLETE: Brachydactyly group,Category,Group of disorders,,,,,,,,,,,
93455,Patellar dysostosis,Category,Group of disorders,,,,,C5681590,,,,,,
93454,Dysostosis with predominant vertebral and costal involvement,Category,Group of disorders,LD24.H,,,,C5681591,,,,,,
93453,Dysostosis with predominant craniofacial involvement,Category,Group of disorders,LD25.3,,,,C5681592,,,,,,
93452,OBSOLETE: Craniosynostosis syndrome or cranial ossification disease,Category,Group of disorders,,,,,,,,,,,
93451,Cleidocranial dysplasia and isolated cranial ossification defect,Category,Group of disorders,,,,,C5681593,,,,,,
93450,Primary bone dysplasia with disorganized development of skeletal components,Category,Group of disorders,,,,,C5680276,,,,,,
93449,Primary osteolysis,Category,Group of disorders,,0019707,,,C5559806,,,,,,
93465,Lethal chondrodysplasia,Category,Group of disorders,,,,,C5681594,,,,,,
93461,Chromosomal disease with overgrowth,Category,Group of disorders,,,,,C5681595,,,,,,
93459,Syndrome with synostosis or other joint formation defect,Category,Group of disorders,,,,,C5681596,,,,,,
93460,Overgrowth syndrome,Category,Group of disorders,LD2C,0019716,Q87.3,,C2986703,,10088693,,,,
93457,Non-syndromic limb reduction defect,Category,Group of disorders,LB9B,0019713,,,C5680277,,,,,,
93458,"Non-syndromic polydactyly, syndactyly and/or hyperphalangy",Category,Group of disorders,,,,,C5681597,,,,,,
93474,Scheie syndrome,Clinical subtype,Subtype of disorder,5C56.30,0011760,E76.0,607016,C0026708,,,12561,Scheie syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
93476,Hurler-Scheie syndrome,Clinical subtype,Subtype of disorder,5C56.30,0011759,E76.0,607015,C0086431,,10056916,12560,Hurler-Scheie syndrome,"Infancy, Neonatal",Autosomal recessive
93472,OBSOLETE: Dysmorphic syndrome associated with bone anomaly,Category,Group of disorders,,,,,,,,,,,
93473,Hurler syndrome,Clinical subtype,Subtype of disorder,5C56.30,0011758,E76.0,607014,C0086795,,,12559,Hurler syndrome,"Infancy, Neonatal",Autosomal recessive
93470,OBSOLETE: Dysharmonic micromelia,Category,Group of disorders,,,,,,,,,,,
93471,OBSOLETE: Miscellaneous metabolic disease associated with bone anomaly,Category,Group of disorders,,,,,,,,,,,
93466,OBSOLETE: Limb-girdle bone anomaly,Category,Group of disorders,,,,,,,,,,,
93469,OBSOLETE: Harmonic micromelia,Category,Group of disorders,,,,,,,,,,,
93399,Juvenile sialidosis type 2,Clinical subtype,Subtype of disorder,5C56.21,0019681,E77.1,256550,C5681598,,,,Juvenile sialidosis type 2,Adolescent,Autosomal recessive
93398,Genochondromatosis type 2,Disease,Disorder,LD24.2Y,0019680,Q78.4,137360,C4511481,,,,Genochondromatosis type 2,Childhood,
93400,Congenital sialidosis type 2,Clinical subtype,Subtype of disorder,5C56.21,0019682,E77.1,256550,C5681599,,,,Congenital sialidosis type 2,"Infancy, Neonatal",Autosomal recessive
599373,STXBP1-related encephalopathy,Disease,Disorder,,0012812,G93.8,612164,C5681600,,,,STXBP1-related encephalopathy,Neonatal,Autosomal dominant
93403,Syndactyly type 2,Morphological anomaly,Disorder,LB79.Y,0021651,Q70.2,610234,C2699746,C538153,,5087,Syndactyly type 2,"Infancy, Neonatal",Autosomal dominant
599376,Hypomyelination of early myelinating structures,Disease,Disorder,,0035398,G37.8,,C5680278,,,,Hypomyelination of early myelinating structures,Infancy,X-linked dominant
93402,Syndactyly type 1,Morphological anomaly,Disorder,LB79.Y,0008512,Q70.1,185900,C1861380,C566096,,5081,Syndactyly type 1,"Antenatal, Infancy, Neonatal",Autosomal dominant
93405,Syndactyly type 4,Morphological anomaly,Disorder,LB79.Y,0008515,Q70.4,186200,C1861355,C566092,,4434,Syndactyly type 4,"Infancy, Neonatal",Autosomal dominant
599418,Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,Clinical subtype,Subtype of disorder,4A00.14,0035734,T78.3,619367,C5681601,,,,Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,,Autosomal dominant
93404,Syndactyly type 3,Morphological anomaly,Disorder,LB79.Y,0008514,Q70.1,186100,C1861366,C538154,,5088,Syndactyly type 3,"Infancy, Neonatal",Autosomal dominant
599480,Acquired hemophilia A,Disease,Disorder,3B22,0035735,D68.4,,C0272325,C536392,10082745,6405,Acquired hemophilia A,"Adolescent, Adult, Childhood, Elderly",Not applicable
599485,Acquired hemophilia B,Disease,Disorder,3B22,0035736,D68.4,,C0398609,,10082747,,Acquired hemophilia B,No data available,Not applicable
93406,Syndactyly type 5,Morphological anomaly,Disorder,LB79.Y,0008516,Q70.2,186300,C1861348,C538155,,5089,Syndactyly type 5,"Infancy, Neonatal",Autosomal dominant
599490,Acquired factor V deficiency,Disease,Disorder,3B2Y,0035737,D68.4,,C4329256,,10086006,,Acquired factor V deficiency,"Adult, Elderly",
93409,"Brachydactyly-syndactyly, Zhao type",Malformation syndrome,Disorder,LD26.2,,Q73.8,610713,C4303990,,,,"Brachydactyly-syndactyly, Zhao type","Infancy, Neonatal",Autosomal dominant
599495,Acquired factor VII deficiency,Disease,Disorder,3B2Y,0035738,D68.4,,C4331989,,,,Acquired factor VII deficiency,All ages,
599501,Acquired factor X deficiency,Disease,Disorder,3B2Y,0021134,D68.4,,C0272328,,,,Acquired factor X deficiency,All ages,
93419,Rare bone disease,Category,Group of disorders,,,,,C5681602,,,,,,
599507,Acquired factor XI deficiency,Disease,Disorder,3B2Y,0035740,D68.4,,C4329257,,10082746,,Acquired factor XI deficiency,"Adolescent, Adult",
599513,Acquired factor XIII deficiency,Disease,Disorder,3B22,0021133,D68.4,,C0238120,,,,Acquired factor XIII deficiency,"Adolescent, Adult, Childhood, Elderly",
93421,Type 2 collagen-related bone disorder,Category,Group of disorders,,0022800,,,C5681603,,,,,,
599519,Factor V short isoforms-related bleeding disorder,Disease,Disorder,3B14.Z,0035742,D68.4,605913,C5680279,,,,Factor V short isoforms-related bleeding disorder,No data available,Autosomal dominant
93420,FGFR3-related chondrodysplasia,Category,Group of disorders,,0019685,,,C5681604,,,,,,
599579,Factor V Amsterdam bleeding disorder,Etiological subtype,Subtype of disorder,3B14.Z,0035743,D68.4,,C5681605,,,,Factor V Amsterdam bleeding disorder,No data available,Autosomal dominant
93422,Type 11 collagen-related bone disorder,Category,Group of disorders,,,,,C5681606,,,,,,
93423,Sulfation-related bone disorder,Category,Group of disorders,,,,,C5681607,,,,,,
93424,OBSOLETE: Perlecan-related bone disorder,Category,Group of disorders,,,,,,,,,,,
93425,Filamin-related bone disorder,Category,Group of disorders,,0019690,,,C5680280,,,,,,
93426,Ciliopathies with major skeletal involvement,Category,Group of disorders,,0019691,,617405,C0432195,,,,,,
93427,OBSOLETE: Metatropic dysplasias,Category,Group of disorders,,,,,,,,,,,
93429,Multiple epiphyseal dysplasia and pseudoachondroplasia,Category,Group of disorders,LD24.6,,,,C5681609,,,,,,
93430,Multiple metaphyseal dysplasia,Clinical group,Group of disorders,LD24.7,,,,C5681610,,,,,,
93434,Spondylodysplastic dysplasia,Clinical group,Group of disorders,LD24.5,0019694,,,C4736216,,,,,,
93435,OBSOLETE: Moderate spondylodysplastic dysplasia,Category,Group of disorders,,,,,,,,,,,
93436,Acromelic dysplasia,Clinical group,Group of disorders,LD24.8,0019695,,,C4736195,,,,,,
93437,Acromesomelic dysplasia,Clinical group,Group of disorders,LD24.9,0019696,,,C5235036,C535658,10083866,6,,,
93438,Mesomelic and rhizo-mesomelic dysplasia,Clinical group,Group of disorders,LD24.A,,,,C5681611,,,,,,
93439,Campomelic dysplasia and related disorders,Clinical group,Group of disorders,,0019698,,614592,C0432238,,,,,,
93440,Slender bone dysplasia,Clinical group,Group of disorders,LD24.D,,,,C4736215,,,,,,
93360,"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",Disease,Disorder,LD24.3,0011335,Q77.7,603546,C1863732,C535784,,9866,"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type","Infancy, Neonatal",Autosomal dominant
93359,OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity,Disease,Disorder,,,,,,,,,,,
93358,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,Disease,Disorder,LD24.3,0010077,Q77.7,271665,C4707851,,,10616,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,"Infancy, Neonatal",Autosomal recessive
93357,SPONASTRIME dysplasia,Disease,Disorder,LD24.3,0010068,Q77.7,271510,C1300260,C535786,,4970,SPONASTRIME dysplasia,"Infancy, Neonatal",Autosomal recessive
93365,OBSOLETE: CINCA syndrome with NLRP3 mutations,Clinical subtype,Subtype of disorder,,,,,,,,,,,
599082,CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0032600,Q87.0,618205,C4748701,,,,CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal dominant
93367,OBSOLETE: CINCA syndrome without NLRP3 mutations,Clinical subtype,Subtype of disorder,,,,,,,,,,,
93372,Familial hypocalciuric hypercalcemia type 1,Etiological subtype,Subtype of disorder,5A51.2,0007791,E83.5,145980,C0342637,C537145,10068704,2796,Familial hypocalciuric hypercalcemia type 1,All ages,Autosomal dominant
93382,Brachydactyly type A6,Malformation syndrome,Disorder,LD26.1,0007219,Q73.8,112910,C1862130,C537092,,983,Brachydactyly type A6,"Infancy, Neonatal",Autosomal dominant
93383,Brachydactyly type B,Malformation syndrome,Disorder,LD26.1,0019676,Q73.8,113000,C1300267,,,985,Brachydactyly type B,Antenatal,Autosomal dominant
93387,Brachydactyly type E,Malformation syndrome,Disorder,LD26.1,0019677,Q73.8,613382,C4315392,C566194,,987,Brachydactyly type E,Antenatal,Autosomal dominant
93388,Brachydactyly type A1,Malformation syndrome,Disorder,LD26.1,0007215,Q73.8,616849,C1862151,C537088,,978,Brachydactyly type A1,"Infancy, Neonatal",Autosomal dominant
93384,Brachydactyly type C,Malformation syndrome,Disorder,LD26.1,0007221,Q73.8,113100,C1862103,C537093,,986,Brachydactyly type C,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
93385,NON RARE IN EUROPE: Brachydactyly type D,Malformation syndrome,Disorder,,,,,,,,,,,
93393,NON RARE IN EUROPE: Brachydactyly type A3,Morphological anomaly,Disorder,,,,,,,,,,,
93389,Brachydactyly type A5,Malformation syndrome,Disorder,,,,,C1862138,,,982,,,
93396,Brachydactyly type A2,Malformation syndrome,Disorder,LD26.1,0007216,Q73.8,112600,C1832702,C537089,,979,Brachydactyly type A2,"Infancy, Neonatal",Autosomal dominant
93397,Brachydactyly type A7,Malformation syndrome,Disorder,LD26.1,0019679,Q73.8,,C4303991,,,984,Brachydactyly type A7,"Infancy, Neonatal",
93394,Brachydactyly type A4,Malformation syndrome,Disorder,LD26.1,0007218,Q73.8,112800,C1862139,C537097,,990,Brachydactyly type A4,"Infancy, Neonatal",Autosomal dominant
93395,Ballard syndrome,Malformation syndrome,Disorder,,,,112440,C1862163,,,,,,
595356,Localized dystrophic epidermolysis bullosa,Disease,Disorder,,0035349,Q81.2,131850,C0474885,,,,Localized dystrophic epidermolysis bullosa,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
93968,Meningocele,Disease,Disorder,,,,,,D008588,10027266,3471,,,
93969,Open spinal dysraphism with a myelomeningocele,Morphological anomaly,Disorder,LA02.1,0019773,Q05.6,,C5781264,,,3475,Open spinal dysraphism with a myelomeningocele,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
595337,Adrenal hypoplasia congenita,Clinical group,Group of disorders,,,,,C0220766,,10049057,,,,
93962,OBSOLETE: Cervical dystonia,Disease,Disorder,,,,,,,,,,,
93963,"OBSOLETE: Autosomal dominant focal dystonia, DYT7 type",Disease,Disorder,,,,,,,,,,,
595351,Epidermolysis bullosa simplex with extracutaneous involvement,Category,Group of disorders,,,,,C5680281,,,,,,
93964,Blepharospasm-oromandibular dystonia syndrome,Disease,Disorder,8A02.0Y,0019772,G24.8,,C0025183,D008538,10027138,7008,Blepharospasm-oromandibular dystonia syndrome,"Adult, Elderly",
595346,Epidermolysis bullosa simplex without extracutaneous involvement,Category,Group of disorders,,,,,C5680282,,,,,,
93958,Oromandibular dystonia,Disease,Disorder,8A02.0Y,0019771,G24.4,,C2242577,,10067954,,Oromandibular dystonia,"Adolescent, Adult, Childhood, Elderly, Infancy",
595216,Fibrous dysplasia/McCune-Albright syndrome,Clinical group,Group of disorders,,,,,C5680283,,,,,,
93961,OBSOLETE: Laryngeal dyskinesia,Disease,Disorder,,,,,,,,,,,
93955,OBSOLETE: Benign essential blepharospasm,Disease,Disorder,,,,,,,,,,,
93956,OBSOLETE: Truncal dystonia,Disease,Disorder,,,,,,,,,,,
93957,OBSOLETE: Limb dystonia,Disease,Disorder,,,,,,,,,,,
94059,Uremic pruritus,Particular clinical situation in a disease or syndrome,Disorder,EC90.10,,L29.8,,C1262019,,10060875,,Uremic pruritus,"Adolescent, Adult, Childhood, Elderly",Not applicable
94062,NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome,Disease,Disorder,,,,,,,,,,,
94061,OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome,Disease,Disorder,,,,,,,,,,,
94058,Neovascular glaucoma,Particular clinical situation in a disease or syndrome,Disorder,9C61.32,0019783,H40.5,,C0017609,D015355,10062891,,Neovascular glaucoma,"Adult, Elderly",Not applicable
94056,Isolated humero-ulnar synostosis,Morphological anomaly,Disorder,LB90.2,0019782,Q74.0,,C5925053,,,,Isolated humero-ulnar synostosis,No data available,Not applicable
93975,OBSOLETE: Renier-Gabreels-Jasper syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
93974,Smith-Fineman-Myers syndrome,Malformation syndrome,Disorder,,,,,C0796159,,,3521,,,
93976,Anotia,Morphological anomaly,Disorder,LA22.1,0019780,Q16.0,600674,C0702139,,10002654,,Anotia,"Infancy, Neonatal",
93971,Chudley-Lowry-Hoar syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
93970,Holmes-Gang syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
93973,Carpenter-Waziri syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
93972,Juberg-Marsidi syndrome,Malformation syndrome,Disorder,,,,,C0796003,,,,,,
93932,FG syndrome type 1,Disease,Disorder,LD2F.1Y,0010590,Q87.8,305450,C5399762,C537923,,2317,FG syndrome type 1,"Antenatal, Neonatal",X-linked recessive
93930,Classic bladder exstrophy,Clinical subtype,Subtype of disorder,LB31.3,0010805,Q64.1,600057,C0005689,D001746,,6398,Classic bladder exstrophy,"Infancy, Neonatal",Multigenic/multifactorial
93928,Isolated epispadias,Clinical subtype,Subtype of disorder,LB55,0019759,Q64.0,,C0014588,D004842,10015088,,Isolated epispadias,"Antenatal, Infancy, Neonatal",Multigenic/multifactorial
93929,Cloacal exstrophy,Clinical subtype,Subtype of disorder,LB17.3,0009774,Q64.1,258040,C1850321,C537748,10067424,4080,Cloacal exstrophy,"Infancy, Neonatal",Multigenic/multifactorial
93926,Midline interhemispheric variant of holoprosencephaly,Clinical subtype,Subtype of disorder,LA05.2,,Q04.2,609637,C5396362,,,,Midline interhemispheric variant of holoprosencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
93924,Lobar holoprosencephaly,Clinical subtype,Subtype of disorder,LA05.2,0019756,Q04.2,609637,C0431362,,,,Lobar holoprosencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
93925,Alobar holoprosencephaly,Clinical subtype,Subtype of disorder,LA05.2,0019757,Q04.2,301043,C0431363,,,,Alobar holoprosencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
93921,Full schwannomatosis,Disease,Disorder,LD2D.1Y,0008075,Q85.0,615670,C5779880,C536641,,,Full schwannomatosis,"Adult, Elderly",Autosomal dominant
93953,Familial thyroglossal duct cyst,Morphological anomaly,Disorder,DA05.Y,0008565,Q89.2,188455,C3495590,C536909,,5204,Familial thyroglossal duct cyst,"Infancy, Neonatal",
93952,"X-linked intellectual disability, Hedera type",Disease,Disorder,LD90,0010319,G25.8,300423,C1845543,C564516,,,"X-linked intellectual disability, Hedera type",Infancy,X-linked recessive
595109,Atypical Timothy syndrome,Clinical subtype,Subtype of disorder,BC65.0,0021172,I49.8,,C5575746,,,,Atypical Timothy syndrome,"Antenatal, Neonatal",Autosomal dominant
93951,OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome,Disease,Disorder,,,,,,,,,,,
595133,Perivascular epithelioid cell neoplasm,Disease,Disorder,,0006359,D21.9,,C1300127,D054973,10085067,,Perivascular epithelioid cell neoplasm,"Adolescent, Adult, Childhood, Elderly",
93950,"X-linked intellectual disability, Sutherland-Haan type",Clinical subtype,Subtype of disorder,LD90.Y,0019769,Q87.5,309500,C5681613,,,,"X-linked intellectual disability, Sutherland-Haan type","Antenatal, Infancy, Neonatal",X-linked recessive
595098,Timothy syndrome type 1,Clinical subtype,Subtype of disorder,BC65.0,0035678,I49.8,,C5574939,,,,Timothy syndrome type 1,"Antenatal, Neonatal",Autosomal dominant
93947,"X-linked intellectual disability, Golabi-Ito-Hall type",Clinical subtype,Subtype of disorder,LD90.Y,0019768,Q87.8,309500,C5681614,,,,"X-linked intellectual disability, Golabi-Ito-Hall type","Infancy, Neonatal",X-linked recessive
595105,Timothy syndrome type 2,Clinical subtype,Subtype of disorder,BC65.0,0035679,I49.8,,C4304347,,,,Timothy syndrome type 2,"Antenatal, Neonatal",Autosomal dominant
93946,Hamel cerebro-palato-cardiac syndrome,Clinical subtype,Subtype of disorder,LD90.Y,0019767,Q87.8,309500,C5681615,,,,Hamel cerebro-palato-cardiac syndrome,"Infancy, Neonatal",X-linked recessive
93945,"X-linked intellectual disability, Porteous type",Clinical subtype,Subtype of disorder,LD90.Y,0019766,Q87.8,309500,C5681616,,,,"X-linked intellectual disability, Porteous type",Infancy,X-linked recessive
93944,"X-linked intellectual disability, Fichera type",Clinical subtype,Subtype of disorder,,,,,,,,,,,
93943,Corpus callosum dysgenesis-hypopituitarism syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
93942,OBSOLETE: Superior celosomia,Morphological anomaly,Disorder,,,,,,,,,,,
93941,Laryngotracheoesophageal cleft type 4,Clinical subtype,Subtype of disorder,LA72,0019764,Q32.1,,C0584827,,,,Laryngotracheoesophageal cleft type 4,"Infancy, Neonatal",
93940,Laryngotracheoesophageal cleft type 3,Clinical subtype,Subtype of disorder,LA72,0019763,Q32.1,215800,C0584825,,,,Laryngotracheoesophageal cleft type 3,"Infancy, Neonatal",
93939,Laryngotracheoesophageal cleft type 2,Clinical subtype,Subtype of disorder,LA72,0019762,Q32.1,,C0584824,,,,Laryngotracheoesophageal cleft type 2,"Infancy, Neonatal",
93938,Laryngotracheoesophageal cleft type 1,Clinical subtype,Subtype of disorder,LA72,0019761,Q32.1,,C0584823,,,,Laryngotracheoesophageal cleft type 1,"Infancy, Neonatal",
93937,OBSOLETE: Terminal transverse defects of arm,Morphological anomaly,Disorder,,,,,,,,,,,
93626,Rare renal disease,Category,Group of disorders,,,,,C5681617,,,,,,
93665,Autoinflammatory syndrome,Category,Group of disorders,,0019751,,,C3890737,,10072220,,,,
93668,OBSOLETE: Adult chronic recurrent multifocal osteomyelitis,Clinical subtype,Subtype of disorder,,,,,,,,,,,
93616,Hemoglobin H disease,Disease,Disorder,3A50.02,0013512,D56.0,613978,C3161174,,10063435,,Hemoglobin H disease,All ages,Autosomal recessive
93618,Rare cause of hypertension,Category,Group of disorders,,,,,C5681618,,,,,,
93619,Rare renal tumor,Category,Group of disorders,,,,,C5681619,,,,,,
93622,Dent disease type 1,Clinical subtype,Subtype of disorder,GB90.42,0010225,N25.8,310468,C1848336,C538212,,,Dent disease type 1,Childhood,X-linked recessive
93623,Dent disease type 2,Clinical subtype,Subtype of disorder,GB90.42,0010359,N25.8,300555,C1845167,C564487,,,Dent disease type 2,"Childhood, Infancy",X-linked recessive
93682,OBSOLETE: Pediatric Castleman disease,Clinical subtype,Subtype of disorder,,,,,,,,,,,
93672,Juvenile dermatomyositis,Disease,Disorder,4A41.01,0008054,M33.0,,C0263666,,10008521,6805,Juvenile dermatomyositis,"Adolescent, Childhood, Infancy",Not applicable
93686,OBSOLETE: Multicentric Castleman disease,Clinical subtype,Subtype of disorder,,,,,,,,,,,
93685,Unicentric Castleman disease,Clinical subtype,Subtype of disorder,4B2Y,0019753,D47.7,,C3898582,,,6005,Unicentric Castleman disease,All ages,
93890,Rare developmental defect during embryogenesis,Category,Group of disorders,,,,,C5680284,,,,,,
93688,OBSOLETE: Non-idiopathic juvenile arthritis,Category,Group of disorders,,,,,,,,,,,
93591,Infantile nephronophthisis,Clinical subtype,Subtype of disorder,GB83,0011190,Q61.5,602088,C1865872,,,,Infantile nephronophthisis,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
93592,Juvenile nephronophthisis,Clinical subtype,Subtype of disorder,GB83,0009728,Q61.5,256100,C1855681,C537699,,,Juvenile nephronophthisis,,Autosomal recessive
93587,Genetic cystic renal disease,Category,Group of disorders,,,,,C5680285,,,,,,
93589,Late-onset nephronophthisis,Clinical subtype,Subtype of disorder,GB83,0019742,Q61.5,613159,C5681620,,,,Late-onset nephronophthisis,,Autosomal recessive
596426,Syndrome of reduced sensitivity to thyroid hormone,Clinical group,Group of disorders,,,,,C4722330,,,,,,
93598,Primary hyperoxaluria type 1,Clinical subtype,Subtype of disorder,5C51.20,0009823,E74.8,259900,C0268164,C536414,,2835,Primary hyperoxaluria type 1,All ages,Autosomal recessive
93593,Nephropathy secondary to a storage or other metabolic disease,Category,Group of disorders,,,,,C5681622,,,,,,
93594,OBSOLETE: Alpha-1-antichymotrypsin deficiency,Disease,Disorder,,,,,,,,,,,
93578,OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly,Etiological subtype,Subtype of disorder,,,,,,,,,,,
596008,Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis,Clinical subtype,Subtype of disorder,LD24.GY,0020667,Q87.8,207410,C2936791,,,,Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis,,Autosomal dominant
93579,OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly,Etiological subtype,Subtype of disorder,,,,,,,,,,,
93575,OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly,Etiological subtype,Subtype of disorder,,,,,,,,,,,
93576,OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly,Etiological subtype,Subtype of disorder,,,,,,,,,,,
93583,Congenital thrombotic thrombocytopenic purpura,Clinical subtype,Subtype of disorder,3B64.14,0010122,M31.1,274150,C1268935,,,9430,Congenital thrombotic thrombocytopenic purpura,"Adult, Childhood, Infancy, Neonatal",Autosomal recessive
93585,Immune-mediated thrombotic thrombocytopenic purpura,Clinical subtype,Subtype of disorder,3B64.14,0019740,M31.1,,C2584778,C536901,,4607,Immune-mediated thrombotic thrombocytopenic purpura,All ages,Multigenic/multifactorial
93580,OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly,Etiological subtype,Subtype of disorder,,,,,,,,,,,
93581,Atypical hemolytic uremic syndrome with anti-factor H antibodies,Etiological subtype,Subtype of disorder,3A21.Y,0019739,D58.8,235400,C5680286,,,,,,
93610,Distal renal tubular acidosis with anemia,Clinical subtype,Subtype of disorder,GB90.44,0012700,N25.8,611590,C5680287,,,12354,Distal renal tubular acidosis with anemia,"Infancy, Neonatal",Autosomal dominant
93609,Autosomal recessive distal renal tubular acidosis without deafness,Clinical subtype,Subtype of disorder,,,,,,,,,,,
596759,Combined immunodeficiency due to RELA haploinsufficiency,Disease,Disorder,,0035694,D81.8,618287,C5680288,,,,Combined immunodeficiency due to RELA haploinsufficiency,Childhood,Autosomal dominant
93608,Autosomal dominant distal renal tubular acidosis,Clinical subtype,Subtype of disorder,GB90.44,0008368,N25.8,179800,,,,4668,Autosomal dominant distal renal tubular acidosis,"Adolescent, Adult",Autosomal dominant
93607,Autosomal recessive proximal renal tubular acidosis,Clinical subtype,Subtype of disorder,GB90.44,0011422,N25.8,604278,C1970309,C567038,,,Autosomal recessive proximal renal tubular acidosis,Childhood,Autosomal recessive
93614,Hematological disorder with renal involvement,Category,Group of disorders,,,,,C5681623,,,,,,
93613,Cystinuria type B,Etiological subtype,Subtype of disorder,5C60.2,0019746,E72.0,220100,C1857389,,,,Cystinuria type B,,Semi-dominant
596937,Portosinusoidal vascular disease,Disease,Disorder,DB98.Y,0035357,K76.8,,C5680289,,,,Portosinusoidal vascular disease,Adult,
93612,Cystinuria type A,Etiological subtype,Subtype of disorder,5C60.2,0019745,E72.0,220100,C1857388,C565652,,,Cystinuria type A,,Autosomal recessive
596941,Incomplete septal cirrhosis,Histopathological subtype,Subtype of disorder,,0035696,K74.6,,C0544815,,,,,,
93611,Autosomal recessive distal renal tubular acidosis with deafness,Clinical subtype,Subtype of disorder,,,,,C0403554,,,,,,
93602,Xanthinuria type II,Etiological subtype,Subtype of disorder,5C55.00,0011346,E79.8,603592,C1863688,C566358,,5620,Xanthinuria type II,,Autosomal recessive
93601,Xanthinuria type I,Etiological subtype,Subtype of disorder,5C55.00,0010209,E79.8,278300,C0268118,C562584,,5621,Xanthinuria type I,,Autosomal recessive
596448,IgG4-related systemic disease,Disease,Disorder,4A43.0,17287,M35.8,,C4087124,,10077271,,IgG4-related systemic disease,"Adolescent, Adult, Childhood, Elderly",Not applicable
93600,Primary hyperoxaluria type 3,Clinical subtype,Subtype of disorder,5C51.2Y,0013327,E74.8,613616,C3150878,,,10738,Primary hyperoxaluria type 3,"Childhood, Infancy",Autosomal recessive
93599,Primary hyperoxaluria type 2,Clinical subtype,Subtype of disorder,5C51.2Y,0009824,E74.8,260000,C0268165,C536415,,2836,Primary hyperoxaluria type 2,Childhood,Autosomal recessive
93606,Nephrogenic syndrome of inappropriate antidiuresis,Disease,Disorder,5A60.20,0010356,E22.2,300539,C1845202,C564491,,10306,Nephrogenic syndrome of inappropriate antidiuresis,Childhood,X-linked recessive
596753,VEXAS syndrome,Disease,Disorder,4A60.Y,0026777,M35.8,301054,C5435753,C000721467,10085860,,VEXAS syndrome,"Adult, Elderly",Not applicable
93605,Bartter syndrome type 3,Clinical subtype,Subtype of disorder,GB90.43,0011822,E26.8,607364,C1846343,C537653,,9659,Bartter syndrome type 3,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
93604,OBSOLETE: Antenatal Bartter syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
93603,Rare renal tubular disease,Category,Group of disorders,,,,,C5681624,,,,,,
99092,Interventricular septum aneurysm,Morphological anomaly,Disorder,LA88.Y,0007112,Q21.0,105805,C1387721,C563239,,,,,
99094,Laubry-Pezzi syndrome,Morphological anomaly,Disorder,LA88.4Y,0020427,Q21.0,,C4707235,,,,Laubry-Pezzi syndrome,"Infancy, Neonatal",
99087,Coronary ostial stenosis or atresia,Morphological anomaly,Disorder,LA86.Y,0020423,Q24.5,,C5575847,,,,,,
99088,OBSOLETE: Intramural coronary arterial course,Morphological anomaly,Disorder,,,,,,,,,,,
99089,Abnormal number of coronary ostia,Morphological anomaly,Disorder,LA8C.Y,0020425,Q24.5,,C5191081,,,,,,
99090,Malposition of a coronary ostium,Morphological anomaly,Disorder,LA8C.1,0020426,Q24.5,,C3532077,,,,,,
99083,Pulmonary artery hypoplasia,Morphological anomaly,Disorder,LA8B.1,0020419,Q25.7,,C0265910,,,,,,
99084,Peripheral pulmonary stenosis,Morphological anomaly,Disorder,LA8B.1,0020420,Q25.6,,C3531782,,,4589,,,
99085,OBSOLETE: Coronary artery intramyocardial course,Morphological anomaly,Disorder,,,,,,,,,,,
99086,OBSOLETE: Aortopulmonary coronary arterial course,Morphological anomaly,Disorder,,,,,,,,,,,
99079,Cervical aortic arch,Morphological anomaly,Disorder,LA8B.2Y,,Q25.4,,C0345065,,,,,,
99081,Right aortic arch,Morphological anomaly,Disorder,LA8B.2Y,0020417,Q25.4,,C0035615,,10067407,,,,
99082,Dysphagia lusoria,Morphological anomaly,Disorder,,0020418,Q25.4,,C0267073,,10079869,,,,
99076,Persistent fifth aortic arch,Morphological anomaly,Disorder,LA8B.2Y,0020414,Q25.4,,C0345066,,,,,,
99075,Encircling double aortic arch,Morphological anomaly,Disorder,LA8B.Y,0020413,Q25.4,,C4706940,,,,,,
99078,Neuhauser anomaly,Morphological anomaly,Disorder,LA8B.2Y,0020416,Q25.4,,C4707820,,,,,,
99077,Kommerell diverticulum,Morphological anomaly,Disorder,LA8B.2Y,0020415,Q25.4,,C0265885,,10081282,,Kommerell diverticulum,,Not applicable
99072,Congenital patent ductus arteriosus aneurysm,Morphological anomaly,Disorder,LA8B.Y,0020412,Q25.8,,C4706391,,,,,,
99071,Aorto-left ventricular tunnel,Clinical subtype,Subtype of disorder,LA8A.Y,0020411,Q20.8,,C0345054,,,,,,
99068,Complete atrioventricular septal defect-tetralogy of Fallot,Clinical subtype,Subtype of disorder,LA87.45,0020408,Q21.2,615779,C3640086,,,,Complete atrioventricular septal defect-tetralogy of Fallot,,"Autosomal dominant, Not applicable"
99067,Complete atrioventricular septal defect with ventricular hypoplasia,Clinical subtype,Subtype of disorder,,0020407,Q21.2,615779,C5680290,,,,Complete atrioventricular septal defect with ventricular hypoplasia,,Autosomal dominant
99070,Aorto-right ventricular tunnel,Clinical subtype,Subtype of disorder,LA8A.Y,0020410,Q20.8,,C0345055,,,,,,
99069,OBSOLETE: Univentricular heart with single atrio-ventricular valve,Clinical subtype,Subtype of disorder,,,,,,,,,,,
99064,Straddling and/or overriding mitral valve,Clinical subtype,Subtype of disorder,LA87.1Y,0020405,Q23.8,,C5681625,,,,,,
99063,Shone complex,Malformation syndrome,Disorder,LA88.Y,0020404,Q23.8,,C1868705,,10066802,,Shone complex,"Adult, Childhood, Infancy, Neonatal",
99066,OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
99125,Congenital total pulmonary venous return anomaly,Morphological anomaly,Disorder,LA86.20,0007130,Q26.2,106700,C4551903,,,,Congenital total pulmonary venous return anomaly,Neonatal,Not applicable
99126,Congenital pulmonary vein atresia,Morphological anomaly,Disorder,LA86.Y,0957556,Q26.8,,C0344679,,,,,,
99123,Inferior vena cava interruption without azygos continuation,Morphological anomaly,Disorder,LA86.Y,20452,Q26.8,,C5680291,,,,,,
99124,Congenital partial pulmonary venous return anomaly,Morphological anomaly,Disorder,LA86.21,0020453,Q26.3,,C0158634,,,,Congenital partial pulmonary venous return anomaly,"Adolescent, Adult, Childhood, Infancy",
99121,Azygos continuation of the inferior vena cava,Morphological anomaly,Disorder,LA86.Y,0020450,Q26.8,,C1859772,,,,,,
99122,Congenital stenosis of the inferior vena cava,Morphological anomaly,Disorder,LA86.Y,0020451,Q26.0,,C0265934,,,,,,
99119,Right inferior vena cava connecting to left-sided atrium,Morphological anomaly,Disorder,LA86.Y,0020448,Q26.8,,C3164330,,,,,,
99120,Persistent eustachian valve,Morphological anomaly,Disorder,LA86.Y,0020449,Q26.8,,C5190784,,,,,,
99117,Coronary sinus stenosis,Morphological anomaly,Disorder,LA86.Y,0020446,Q21.1,,C0344684,,,,,,
99118,Coronary sinus atresia,Morphological anomaly,Disorder,LA86.Y,0020447,Q21.1,,C0344683,,,,,,
99113,Subaortic course of innominate vein,Morphological anomaly,Disorder,LA86.Y,0020444,Q26.8,,C4707821,,,,,,
99114,Agenesis of the superior vena cava,Morphological anomaly,Disorder,LA86.Y,0020445,Q26.8,,C0265929,,,,,,
99111,Persistent left superior vena cava connecting to the roof of left-sided atrium,Morphological anomaly,Disorder,LA86.0,0020442,Q26.1,,C5680292,,,,,,
99112,Absence of innominate vein,Morphological anomaly,Disorder,LA86.Y,0020443,Q26.8,,C4707656,,,,,,
99110,Right superior vena cava connecting to left-sided atrium,Morphological anomaly,Disorder,LA86.Y,0020441,Q26.8,,C0344658,,,,,,
99109,Persistent left superior vena cava connecting through coronary sinus to left-sided atrium,Morphological anomaly,Disorder,LA86.0,0020440,Q26.1,,C5680293,,,,,,
99108,NON RARE IN EUROPE: Patent foramen ovale,Morphological anomaly,Disorder,,,,,,,,,,,
99107,Atrial septal aneurysm,Morphological anomaly,Disorder,LA8E.Y,0020438,Q21.1,,C0521533,,,,,,
99106,"Atrial septal defect, ostium primum type",Clinical subtype,Subtype of disorder,,0020437,Q21.2,,C5680294,C548006,,10695,"Atrial septal defect, ostium primum type","Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
99105,"Atrial septal defect, sinus venosus type",Clinical subtype,Subtype of disorder,LA8E.2,0020436,Q21.1,,C0344730,C548009,,10696,"Atrial septal defect, sinus venosus type","Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
99104,"Atrial septal defect, coronary sinus type",Clinical subtype,Subtype of disorder,LA8E.3,0020435,Q21.1,,C0344733,,,10697,"Atrial septal defect, coronary sinus type","Antenatal, Infancy, Neonatal",
99103,"Atrial septal defect, ostium secundum type",Clinical subtype,Subtype of disorder,LA8E.1,0020434,Q21.1,611363,C0344724,,10031303,5865,"Atrial septal defect, ostium secundum type","Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
99102,Ectasia of the left atrial appendage,Morphological anomaly,Disorder,LA8G.Y,0020433,Q20.8,,C4749282,,,,,,
99101,Ectasia of the right atrial appendage,Morphological anomaly,Disorder,LA8F,0020432,Q20.8,,C4749283,,,,,,
99100,Juxtaposition of the atrial appendages,Morphological anomaly,Disorder,LA8F,0020431,Q20.8,,C1290478,,,,,,
99099,Cor triatriatum sinister,Morphological anomaly,Disorder,LA8G.0,0020430,Q24.2,,C0344712,,,12484,,,
99098,Cor triatriatum dexter,Morphological anomaly,Disorder,LA8F,0020429,Q24.2,,C0344697,,,12483,,,
99097,OBSOLETE: Single ventricular septal defect,Morphological anomaly,Disorder,,,,,,,,,,,
99096,OBSOLETE: Multiple ventricular septal defects,Morphological anomaly,Disorder,,,,,,,,,,,
99095,Congenital Gerbode defect,Morphological anomaly,Disorder,LA87.Y,0020428,Q21.0,,C0344947,,,,Congenital Gerbode defect,"Infancy, Neonatal",
99151,NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging,Disease,Disorder,,,,,,,,,,,
99143,OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome,Disease,Disorder,,,,,,,,,,,
99146,OBSOLETE: Platelet function disease associated with renal insufficiency,Disease,Disorder,,,,,,,,,,,
99147,Acquired von Willebrand syndrome,Disease,Disorder,3B2Y,0020460,D68.4,,C0272362,,10069495,5573,Acquired von Willebrand syndrome,Adult,Not applicable
592850,Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies,Clinical subtype,Subtype of disorder,8A43.0,0035663,G36.0,,C5680295,,,,,,
592856,Neuromyelitis optica spectrum disorder with anti-MOG antibodies,Clinical subtype,Subtype of disorder,8A41.1,0035664,G36.0,,C5680296,,,,,,
99135,6-phosphogluconate dehydrogenase deficiency,Disease,Disorder,3A10.0Y,0020457,D55.1,619199,C5543091,,,,,,
592869,Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies,Clinical subtype,Subtype of disorder,,0035665,G36.0,,C5680297,,,,,,
99138,Hemolytic anemia due to erythrocyte adenosine deaminase overproduction,Disease,Disorder,3A10.1,0020458,D55.3,,C0340960,,,,Hemolytic anemia due to erythrocyte adenosine deaminase overproduction,,Autosomal dominant
592873,Acute transverse myelitis with anti-MOG antibodies,Clinical subtype,Subtype of disorder,,0035666,G37.3,,C5680298,,,,Acute transverse myelitis with anti-MOG antibodies,"Adolescent, Adult, Childhood, Elderly, Infancy",
592885,OBSOLETE: Isolated optic neuritis without anti-MOG antibodies,Clinical subtype,Subtype of disorder,,,,,,,,,,,
592888,OBSOLETE: Isolated optic neuritis with anti-MOG antibodies,Clinical subtype,Subtype of disorder,,,,,,,,,,,
99139,OBSOLETE: Unstable hemoglobin disease,Disease,Disorder,,,,,,,,,,,
592894,Acute disseminated encephalomyelitis with anti-MOG antibodies,Clinical subtype,Subtype of disorder,,0035669,G04.0,,C5680301,,,,,,
99142,Microcephaly-cutis verticis gyrata-lymphedema syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
592900,Acute disseminated encephalomyelitis without anti-MOG antibodies,Clinical subtype,Subtype of disorder,,0035670,G04.0,,C5680302,,,,,,
99141,Lymphedema-posterior choanal atresia syndrome,Malformation syndrome,Disorder,,0013324,Q82.0,613611,C3150875,,,,Lymphedema-posterior choanal atresia syndrome,Neonatal,Autosomal recessive
99130,Congenital partial agenesis of pericardium,Morphological anomaly,Disorder,LA8D,0020455,Q24.8,,C0345139,,,,Congenital partial agenesis of pericardium,,Not applicable
99129,Congenital complete agenesis of pericardium,Morphological anomaly,Disorder,LA8D,0020454,Q24.8,,C0345140,,,,Congenital complete agenesis of pericardium,,Not applicable
99131,Pleuro-pericardial cyst,Morphological anomaly,Disorder,LA8D,0020456,Q24.8,,C0345141,,,,Pleuro-pericardial cyst,,Not applicable
99134,OBSOLETE: Intermediate stomatocytosis syndrome,Disease,Disorder,,,,,,,,,,,
99329,"48,XYYY syndrome",Malformation syndrome,Disorder,,0020469,Q98.8,,C4518082,,,11985,"48,XYYY syndrome","Antenatal, Infancy, Neonatal",
99330,"49,XYYYY syndrome",Malformation syndrome,Disorder,,0020470,Q98.8,,C4518342,,,,"49,XYYYY syndrome","Antenatal, Infancy, Neonatal",
99228,Mosaic monosomy X syndrome,Etiological subtype,Subtype of disorder,LD50.04,0020467,Q96.4,,C5681628,,,,Mosaic monosomy X syndrome,"Antenatal, Childhood, Infancy, Neonatal",Not applicable
99324,Paternal uniparental disomy of chromosome 13 syndrome,Malformation syndrome,Disorder,LD45.1,0020468,Q99.8,,C4722326,,,,Paternal uniparental disomy of chromosome 13 syndrome,"Antenatal, Neonatal",
99361,Isolated familial medullary thyroid carcinoma,Disease,Disorder,2D10.4,0007958,C73,155240,C1833921,C536911,10073153,,Isolated familial medullary thyroid carcinoma,,Autosomal dominant
99177,Isolated distichiasis,Morphological anomaly,Disorder,LA14.0Y,0007464,Q10.3,126300,C5779555,,10066128,,,,
99176,Congenital eyelid retraction,Morphological anomaly,Disorder,LA14.05,0020465,Q10.3,,C4274470,,,,,,
99226,Monosomy X syndrome,Etiological subtype,Subtype of disorder,LD50.00,0020466,Q96.9,,,,,,Monosomy X syndrome,"Antenatal, Childhood, Infancy, Neonatal",Not applicable
99179,Kandori fleck retina,Malformation syndrome,Disorder,9B70,0009236,H35.5,228990,C0271257,C562701,,,Kandori fleck retina,"Adolescent, Adult, Childhood",
99170,Tarsal kink syndrome,Morphological anomaly,Disorder,LA14.0Y,0020462,Q10.3,,C1303000,,,,,,
99169,Epiblepharon,Morphological anomaly,Disorder,LA14.0Y,0020461,Q10.3,,C0344503,,10056531,,,,
99172,Euryblepharon,Morphological anomaly,Disorder,LA14.0Y,0020464,Q10.1,,C1303001,,,,Euryblepharon,Neonatal,Unknown
99171,Isolated congenital ectropion,Morphological anomaly,Disorder,LA14.03,0020463,Q10.1,,C5681630,,,,,,
99166,NON RARE IN EUROPE: Familial combined hyperlipoproteinemia,Disease,Disorder,,,,,,,,,,,
99657,"Primary dystonia, DYT2 type",Disease,Disorder,8A02.0Y,9141,G24.1,224500,C1857093,C538006,,2028,"Primary dystonia, DYT2 type",Childhood,Autosomal recessive
99651,OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder,Category,Group of disorders,,,,,,,,,,,
99654,OBSOLETE: Fibrocalculous pancreatopathy,Disease,Disorder,,,,,,,,,,,
99664,OBSOLETE: Trochlear nerve palsy,Disease,Disorder,,,,,,,,,,,
99663,OBSOLETE: Vestibular torticollis,Disease,Disorder,,,,,,,,,,,
99666,OBSOLETE: Atlantoaxial subluxation,Disease,Disorder,,,,,,,,,,,
99665,NON RARE IN EUROPE: Ventral hernia,Disease,Disorder,,,,,,,,,,,
99662,OBSOLETE: Posterior fossa tumors,Disease,Disorder,,,,,,,,,,,
99429,Complete androgen insensitivity syndrome,Disease,Disorder,LD2A.4,0021023,E34.5,300068,C0936016,,,10597,Complete androgen insensitivity syndrome,All ages,X-linked recessive
99642,"Spondyloepimetaphyseal dysplasia, Handigodu type",Disease,Disorder,LD24.3,0013233,Q77.7,613343,C3150545,,,10741,"Spondyloepimetaphyseal dysplasia, Handigodu type","Adolescent, Adult, Childhood",
99408,Pituitary adenoma,Clinical group,Group of disorders,,0006373,D35.2,,C0032000,,10035079,,,,
99413,Turner syndrome due to structural X chromosome anomalies,Etiological subtype,Subtype of disorder,LD50.02,0020472,Q96.2,,C5681631,,,,Turner syndrome due to structural X chromosome anomalies,"Antenatal, Childhood, Infancy, Neonatal",
99647,Cheirospondyloenchondromatosis,Disease,Disorder,,0020474,,,C4510810,,,,,,
99648,OBSOLETE: Non-progressive congenital heart block,Disease,Disorder,,,,,,,,,,,
99649,OBSOLETE: Generalized epilepsy and praxis-induced seizures,Disease,Disorder,,,,,,,,,,,
99650,OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy,Category,Group of disorders,,,,,,,,,,,
99645,Dappled diaphyseal dysplasia,Disease,Disorder,,,,,C1300227,,,,,,
99646,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,Disease,Disorder,LD24.2Y,0013941,Q78.8,614875,C3553958,,,,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,"Childhood, Infancy, Neonatal",Not applicable
99688,Dermotrichic syndrome,Malformation syndrome,Disorder,,0020475,Q82.4,,C0795919,,,,Dermotrichic syndrome,Neonatal,
592574,Menke-Hennekam syndrome,Malformation syndrome,Disorder,,0020774,Q87.8,618333,C5681632,,,,Menke-Hennekam syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
592564,GNAO1-related developmental delay-seizures-movement disorder spectrum,Disease,Disorder,,0035660,G93.4,617493,C5680303,,,,GNAO1-related developmental delay-seizures-movement disorder spectrum,"Childhood, Infancy, Neonatal",Autosomal dominant
592570,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,Malformation syndrome,Disorder,LD2F.1Y,0035661,Q87.8,618164,C5681633,,,,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,"Antenatal, Neonatal",Autosomal dominant
99694,Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
99672,Fried's tooth and nail syndrome,Malformation syndrome,Disorder,,0011219,Q82.4,602401,C0406715,,,,Fried's tooth and nail syndrome,"Antenatal, Infancy, Neonatal",
99715,MASS syndrome,Clinical subtype,Subtype of disorder,,,,604308,,C536030,,,,,
99718,Leber plus disease,Disease,Disorder,8C73.Y,0020478,H47.2,500001,C4304725,,,8476,Leber plus disease,"Adolescent, Adult, Childhood, Infancy",Mitochondrial inheritance
590539,Isolated melanotic schwannoma,Disease,Disorder,2A02.1Y,0035136,D36.1,,C1306247,,,,Isolated melanotic schwannoma,"Adolescent, Adult, Childhood, Elderly",
99722,OBSOLETE: Sporadic achalasia,Clinical subtype,Subtype of disorder,,,,,,,,,,,
99723,OBSOLETE: Familial esophageal achalasia,Clinical subtype,Subtype of disorder,,,,,,,,,,,
99725,Pituitary gigantism,Disease,Disorder,5A60.0,0020479,E22.0,102200,C0017547,D005877,10018265,6506,Pituitary gigantism,"Adolescent, Childhood, Infancy","Autosomal dominant, X-linked dominant"
589821,Congenital-onset Steinert myotonic dystrophy,Clinical subtype,Subtype of disorder,8C71.0,0035646,G71.1,160900,C5680305,,,,Congenital-onset Steinert myotonic dystrophy,"Antenatal, Neonatal",Autosomal dominant
589746,Inherited gynecological cancer-predisposing syndrome,Category,Group of disorders,,,,,C5681634,,,,,,
589827,Juvenile-onset Steinert myotonic dystrophy,Clinical subtype,Subtype of disorder,8C71.0,0035648,G71.1,160900,C5680306,,,,Juvenile-onset Steinert myotonic dystrophy,Childhood,Autosomal dominant
99701,Mesial temporal lobe epilepsy with hippocampal sclerosis,Disease,Disorder,,0020476,G40.0,,C4749367,,,,Mesial temporal lobe epilepsy with hippocampal sclerosis,"Adolescent, Adult, Childhood, Elderly, Infancy",
589824,Childhood-onset Steinert myotonic dystrophy,Clinical subtype,Subtype of disorder,8C71.0,0035647,G71.1,160900,C5680307,,,,Childhood-onset Steinert myotonic dystrophy,"Childhood, Infancy",Autosomal dominant
589833,Late-onset Steinert myotonic dystrophy,Clinical subtype,Subtype of disorder,8C71.0,0035650,G71.1,160900,C5680308,,,,Late-onset Steinert myotonic dystrophy,Elderly,Autosomal dominant
589830,Adult-onset Steinert myotonic dystrophy,Clinical subtype,Subtype of disorder,8C71.0,0035649,G71.1,160900,C5680309,,,,Adult-onset Steinert myotonic dystrophy,Adult,Autosomal dominant
99704,Early-onset obesity-hyperphagia-severe developmental delay syndrome,Disease,Disorder,,0850115,E66.8,613886,C3151303,,,,Early-onset obesity-hyperphagia-severe developmental delay syndrome,,Autosomal dominant
589905,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,Disease,Disorder,,0035133,Q87.8,617991,C4693860,,10090066,,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
589856,Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,Malformation syndrome,Disorder,,0035651,Q87.8,620186,C5680310,,,,Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,Neonatal,Autosomal dominant
99706,OBSOLETE: Progeria-associated arthropathy,Disease,Disorder,,,,,,,,,,,
99710,Punctate acrokeratoderma freckle-like pigmentation,Disease,Disorder,,0036918,L85.8,,C5681635,,,,Punctate acrokeratoderma freckle-like pigmentation,Childhood,
99750,Atypical progressive supranuclear palsy syndrome,Clinical subtype,Subtype of disorder,8A00.10,0020488,G23.1,260540,C5548371,C537240,,4507,Atypical progressive supranuclear palsy syndrome,"Adult, Elderly",
99749,Kostmann syndrome,Disease,Disorder,4B00.00,0012548,D70,610738,C5235141,C537592,,302,Kostmann syndrome,Neonatal,Autosomal recessive
99748,Pontiac fever,Disease,Disorder,1C19.0,0020487,A48.2,,C0343528,,10054161,,Pontiac fever,All ages,Not applicable
99757,Embryonal rhabdomyosarcoma,Clinical subtype,Subtype of disorder,,0009993,C49.9,180295,C0206656,D018233,10065868,4702,Embryonal rhabdomyosarcoma,,Multigenic/multifactorial
99756,Alveolar rhabdomyosarcoma,Clinical subtype,Subtype of disorder,XH7099,0009994,C49.9,268220,C0206655,D018232,10065867,4701,Alveolar rhabdomyosarcoma,,Multigenic/multifactorial
99734,Myotonia fluctuans,Disease,Disorder,8C71.2,0020481,G71.1,608390,C0752355,,,,Myotonia fluctuans,Childhood,Autosomal dominant
99731,Isolated sulfite oxidase deficiency,Clinical subtype,Subtype of disorder,5C50.B,0010089,E72.1,272300,,C538141,,5062,Isolated sulfite oxidase deficiency,"Infancy, Neonatal",Autosomal recessive
99732,Sulfite oxidase deficiency due to molybdenum cofactor deficiency,Clinical subtype,Subtype of disorder,5C50.B,0020480,E72.1,615501,C0268119,C535811,,3705,,,
99735,Myotonia permanens,Disease,Disorder,8C71.2,0020482,G71.1,608390,C5848361,,,,Myotonia permanens,Childhood,Autosomal dominant
99736,Acetazolamide-responsive myotonia,Disease,Disorder,8C71.2,0020483,G71.1,608390,C4275008,,,,Acetazolamide-responsive myotonia,Childhood,Autosomal dominant
99741,King-Denborough syndrome,Malformation syndrome,Disorder,8C72.Y,0020485,G71.2,619542,C1840365,C536883,,8433,King-Denborough syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
99742,Amish lethal microcephaly,Malformation syndrome,Disorder,LA05.0,0011790,Q02,607196,C1846648,C538247,,8606,Amish lethal microcephaly,"Antenatal, Infancy, Neonatal",Autosomal recessive
99739,Rare familial disorder with hypertrophic cardiomyopathy,Category,Group of disorders,,,,,C5680311,D024741,,,Rare familial disorder with hypertrophic cardiomyopathy,,Autosomal dominant
99745,Typhoid,Disease,Disorder,1A07,0005619,A01.0,,C0041466,D014435,10045275,9564,Typhoid,All ages,Not applicable
98820,Familial focal epilepsy with variable foci,Disease,Disorder,8A61.4Y,0020310,G40.0,617935,C1858477,,,13295,Familial focal epilepsy with variable foci,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
98819,Familial temporal lobe epilepsy,Disease,Disorder,8A61.4Y,0005115,G40.2,611631,C1842564,C536956,,5135,,,
98818,Landau-Kleffner syndrome,Disease,Disorder,8A62.2,0009509,F80.3,245570,C0282512,D018887,10052075,6855,Landau-Kleffner syndrome,Childhood,"Autosomal dominant, Unknown"
98816,Childhood occipital visual epilepsy,Clinical subtype,Subtype of disorder,8A61.2Y,0020308,G40.0,,C0393677,,,,,,
98815,Self-limited epilepsy with autonomic seizures,Clinical subtype,Subtype of disorder,8A61.2Y,0020307,G40.0,,C0393676,,,,,,
98813,Hypohidrotic ectodermal dysplasia with immunodeficiency,Disease,Disorder,LD27.02,0010293,D82.8,300636,C1846006,C536181,,9936,Hypohidrotic ectodermal dysplasia with immunodeficiency,"Infancy, Neonatal","Autosomal dominant, X-linked recessive"
98812,Paroxysmal hypnogenic dyskinesia,Disease,Disorder,,,,,C0393777,,,,,,
98811,Paroxysmal exertion-induced dyskinesia,Disease,Disorder,8A02.2,,G24.8,612126,C1842534,C564288,,10541,Paroxysmal exertion-induced dyskinesia,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Not applicable"
98810,Paroxysmal non-kinesigenic dyskinesia,Disease,Disorder,,0700088,G24.8,611147,C1869117,C537181,,8722,Paroxysmal non-kinesigenic dyskinesia,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Not applicable"
98809,Paroxysmal kinesigenic dyskinesia,Disease,Disorder,8A02.2,0044202,G24.8,611031,C1868682,,,8721,Paroxysmal kinesigenic dyskinesia,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Not applicable"
98808,Autosomal dominant dopa-responsive dystonia,Disease,Disorder,8A02.11,971063,G24.1,619911,,,,,Autosomal dominant dopa-responsive dystonia,Childhood,"Autosomal dominant, Not applicable"
98807,"Primary dystonia, DYT13 type",Disease,Disorder,8A02.0Y,0011886,G24.1,607671,C1843264,C564354,,,"Primary dystonia, DYT13 type","Adolescent, Childhood",Autosomal dominant
98837,Acute biphenotypic leukemia,Disease,Disorder,,,,,,,,,,,
98838,Primary mediastinal large B-cell lymphoma,Disease,Disorder,2A81.0,0020323,C85.2,,C1292754,,10036710,,Primary mediastinal large B-cell lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
98835,Acute undifferentiated leukemia,Disease,Disorder,,0020321,C95.0,601626,C0280141,,10073479,,,,
98836,Bilineal acute leukemia,Disease,Disorder,,,,,,,,,,,
98833,Acute myeloblastic leukemia without maturation,Disease,Disorder,2A60.31,0005224,C92.0,,C0026998,,,526,Acute myeloblastic leukemia without maturation,Adult,Not applicable
98834,Acute myeloblastic leukemia with maturation,Disease,Disorder,2A60.32,0020320,C92.0,,C1879321,,,527,Acute myeloblastic leukemia with maturation,All ages,Not applicable
98831,Acute myeloid leukemia with 11q23 abnormalities,Disease,Disorder,2A60.0,0020317,C92.6,,C1292775,,,,Acute myeloid leukemia with 11q23 abnormalities,Childhood,
98832,Acute myeloid leukemia with minimal differentiation,Disease,Disorder,2A60.30,0005223,C92.0,,C0522631,,,,Acute myeloid leukemia with minimal differentiation,Adult,Not applicable
98829,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),Disease,Disorder,2A60.0,0020316,C92.5,,C5395080,,,536,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),Adult,
98827,Unclassified myelodysplastic syndrome,Disease,Disorder,2A37,0020315,D46.7,,C5681636,,,,Unclassified myelodysplastic syndrome,All ages,Not applicable
98825,Unclassified myelodysplastic/myeloproliferative disease,Disease,Disorder,2A44,0020313,C94.6,,C1328061,,,,,,
98826,Myelodysplastic neoplasm with low blasts,Disease,Disorder,2A30,5272,D46.7,,C2981142,D000753,10038269,,Myelodysplastic neoplasm with low blasts,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
98823,Chronic myelomonocytic leukemia,Disease,Disorder,2A40,0020311,C93.1,,C0023480,D015477,10009018,8225,Chronic myelomonocytic leukemia,Adult,Not applicable
98824,Atypical chronic myeloid leukemia,Disease,Disorder,2A41,0004653,C92.2,,C1292772,D054438,10054651,,Atypical chronic myeloid leukemia,Adult,Not applicable
98852,Desquamative interstitial pneumonia,Disease,Disorder,CB03.3,0009887,J84.1,263000,C0238378,,,,,,
98851,Mast cell leukemia,Disease,Disorder,2A21.00,0020334,C94.3,,C0023461,D007946,10056450,,Mast cell leukemia,All ages,Not applicable
98853,Autosomal dominant Emery-Dreifuss muscular dystrophy,Etiological subtype,Subtype of disorder,8C70.2,0020336,G71.0,614302,C0410190,,,,Autosomal dominant Emery-Dreifuss muscular dystrophy,Childhood,Autosomal dominant
98848,Indolent systemic mastocytosis,Disease,Disorder,XH2Y59,0020331,D47.0,,C0272203,,10056452,,Indolent systemic mastocytosis,"Adult, Elderly",Not applicable
98850,Aggressive systemic mastocytosis,Disease,Disorder,XH10N1,0020333,C96.2,,C1112486,,10056453,,Aggressive systemic mastocytosis,"Adult, Antenatal, Elderly, Neonatal",Not applicable
98849,Systemic mastocytosis with associated hematologic neoplasm,Disease,Disorder,2A21.0Y,20332,D47.0,,C1301365,,,,Systemic mastocytosis with associated hematologic neoplasm,"Adult, Elderly",Not applicable
98844,"Classic Hodgkin lymphoma, mixed cellularity type",Histopathological subtype,Subtype of disorder,2B30.12,0004633,C81.2,,C0152266,,10020242,,"Classic Hodgkin lymphoma, mixed cellularity type",Adult,
98843,"Classic Hodgkin lymphoma, nodular sclerosis type",Histopathological subtype,Subtype of disorder,2B30.10,0020327,C81.1,,C0152268,,10020244,,"Classic Hodgkin lymphoma, nodular sclerosis type",Adult,
98846,"Classic Hodgkin lymphoma, lymphocyte-depleted type",Histopathological subtype,Subtype of disorder,2B30.13,0004620,C81.3,,C0152267,,10020219,,"Classic Hodgkin lymphoma, lymphocyte-depleted type",Adult,
98845,"Classic Hodgkin lymphoma, lymphocyte-rich type",Histopathological subtype,Subtype of disorder,2B30.11,0004604,C81.4,,C1266194,,10020231,,"Classic Hodgkin lymphoma, lymphocyte-rich type",Adult,
98839,Intravascular large B-cell lymphoma,Disease,Disorder,2A81.1,0020324,C83.3,,C0334660,,10069643,,Intravascular large B-cell lymphoma,,Not applicable
98842,Lymphomatoid papulosis,Disease,Disorder,2B03.1,0020326,C86.6,,C0206182,D017731,10056670,6944,Lymphomatoid papulosis,All ages,
98841,Anaplastic large cell lymphoma,Disease,Disorder,2A90.A,0020325,C84.7,,C0206180,D017728,,3112,Anaplastic large cell lymphoma,All ages,Not applicable
589608,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",Disease,Disorder,,0035124,Q82.4,618727,C5680313,,,,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",No data available,Not applicable
98867,Hereditary pyropoikilocytosis,Disease,Disorder,,,,266140,C0520739,,,,,,
589595,Mixed phenotype acute leukemia with t(v;11q23.3),Etiological subtype,Subtype of disorder,2A61,0035642,C92.6,,C2826048,,,,Mixed phenotype acute leukemia with t(v;11q23.3),"Adolescent, Adult, Childhood, Infancy",Not applicable
98868,Southeast Asian ovalocytosis,Disease,Disorder,3A10.Y,0008165,D58.1,166900,C1862322,,,,Southeast Asian ovalocytosis,All ages,Autosomal dominant
98869,Congenital dyserythropoietic anemia type I,Disease,Disorder,3A73,0020337,D64.4,615631,C0271933,,,2000,Congenital dyserythropoietic anemia type I,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
589618,Dystonia 28,Disease,Disorder,,0015004,G24.8,617284,C4310633,,,,Dystonia 28,"Childhood, Infancy",Autosomal dominant
98870,Congenital dyserythropoietic anemia type III,Disease,Disorder,3A73,0007109,D64.4,105600,C0271934,,,2002,Congenital dyserythropoietic anemia type III,All ages,"Autosomal dominant, Autosomal recessive"
589534,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),Etiological subtype,Subtype of disorder,2A61,0035639,C92.7,,C2826037,,,,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),"Adolescent, Adult, Childhood, Elderly",Not applicable
98863,X-linked Emery-Dreifuss muscular dystrophy,Etiological subtype,Subtype of disorder,8C70.2,0010680,G71.0,310300,C0751337,D000083143,,,X-linked Emery-Dreifuss muscular dystrophy,Childhood,X-linked recessive
589527,Spinocerebellar ataxia type 45,Disease,Disorder,8A03.16,0033480,G11.8,617769,C4540400,,,,Spinocerebellar ataxia type 45,Adult,Autosomal dominant
98864,Common hereditary elliptocytosis,Disease,Disorder,,,,,,,,,,,
589547,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",Disease,Disorder,,0035122,G93.4,613970,C5681638,,,,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder","Childhood, Infancy, Neonatal",Autosomal dominant
98865,Homozygous hereditary elliptocytosis,Disease,Disorder,,,,,,,,,,,
589542,Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,Disease,Disorder,2A22,0035121,D47.1,,C5229383,,,,Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,"Adolescent, Adult, Childhood, Elderly",
98866,OBSOLETE: Spherocytic elliptocytosis,Disease,Disorder,,,,,,,,,,,
589442,Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,Malformation syndrome,Disorder,,0030045,Q87.8,618889,C5394404,,,,Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
589435,Spondylometaphyseal dysplasia-corneal dystrophy syndrome,Malformation syndrome,Disorder,LD24.5Y,0030074,Q87.8,618961,C5394555,,,,Spondylometaphyseal dysplasia-corneal dystrophy syndrome,Neonatal,Autosomal recessive
589522,Spinocerebellar ataxia type 46,Disease,Disorder,8A03.16,0033481,G11.8,617770,C4540404,,,,Spinocerebellar ataxia type 46,Adult,Autosomal dominant
98861,"Primary ciliary dyskinesia, Kartagener type",Clinical subtype,Subtype of disorder,,,,,C0022521,,,,,,
589515,PUM1-associated developmental disability-ataxia-seizure syndrome,Disease,Disorder,,0035117,G11.8,620719,C4693672,,,,PUM1-associated developmental disability-ataxia-seizure syndrome,"Infancy, Neonatal",Autosomal dominant
98855,Autosomal recessive Emery-Dreifuss muscular dystrophy,Etiological subtype,Subtype of disorder,8C70.2,,G71.0,616516,C1450051,,,,Autosomal recessive Emery-Dreifuss muscular dystrophy,Childhood,Autosomal recessive
98856,Charcot-Marie-Tooth disease type 2B1,Disease,Disorder,8C20.1,0011569,G60.0,605588,C1854154,C537990,,,Charcot-Marie-Tooth disease type 2B1,Childhood,Autosomal recessive
98881,Familial dysfibrinogenemia,Clinical subtype,Subtype of disorder,3B14.0,0014452,D68.2,616004,C5681639,,,2004,Familial dysfibrinogenemia,All ages,Autosomal dominant
98880,Familial afibrinogenemia,Clinical subtype,Subtype of disorder,3B14.0,0008737,D68.2,202400,C2584774,,,5761,Familial afibrinogenemia,"Infancy, Neonatal",Autosomal recessive
98879,Hemophilia B,Disease,Disorder,3B11.0,0010604,D67,300807,C0008533,D002836,10010467,8732,Hemophilia B,"Childhood, Infancy, Neonatal",X-linked recessive
98886,Bleeding diathesis due to integrin alpha2-beta1 deficiency,Etiological subtype,Subtype of disorder,3B62.Y,0013622,D69.8,614200,C3280114,,,,Bleeding diathesis due to integrin alpha2-beta1 deficiency,,Autosomal dominant
98885,Bleeding diathesis due to glycoprotein VI deficiency,Etiological subtype,Subtype of disorder,3B62.Y,0013623,D69.8,614201,C3280120,,,13293,Bleeding diathesis due to glycoprotein VI deficiency,,Autosomal recessive
98873,Congenital dyserythropoietic anemia type II,Disease,Disorder,3A73,0009134,D64.4,224100,C1306589,,,2001,Congenital dyserythropoietic anemia type II,"Adolescent, Adult, Childhood, Elderly, Infancy, Neonatal",Autosomal recessive
98872,Primary acquired pure red cell aplasia,Disease,Disorder,3A61,,D60.0,,C4707560,,,10898,,,
98871,Transient erythroblastopenia of childhood,Disease,Disorder,3A61.0,0009197,D60.1,227050,C0238478,C536980,,7793,Transient erythroblastopenia of childhood,"Childhood, Infancy",
98878,Hemophilia A,Disease,Disorder,3B10.0,0010602,D66,306700,C0019069,D006467,10010468,6591,Hemophilia A,"Childhood, Infancy, Neonatal",X-linked recessive
98897,Oculopharyngodistal myopathy,Disease,Disorder,9C82.1,0025193,G71.0,618940,C1834014,C563508,,12592,Oculopharyngodistal myopathy,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive"
98895,Becker muscular dystrophy,Disease,Disorder,8C70.0,0010311,G71.0,300376,C0917713,,10059117,5900,Becker muscular dystrophy,"Adolescent, Adult, Childhood, Elderly",X-linked recessive
98896,Duchenne muscular dystrophy,Disease,Disorder,8C70.1,0010679,G71.0,310200,C0013264,D020388,10013801,6291,Duchenne muscular dystrophy,Childhood,X-linked recessive
98902,Amish nemaline myopathy,Disease,Disorder,8C72.00,0011539,G71.2,605355,C1854380,,,8334,Amish nemaline myopathy,Neonatal,Autosomal recessive
98889,Bilateral perisylvian polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0020340,Q04.3,616531,C1845668,,,6011,Bilateral perisylvian polymicrogyria,"Antenatal, Infancy, Neonatal",Autosomal recessive
98890,Early-onset X-linked optic atrophy,Disease,Disorder,,0010698,H47.2,311050,C1839576,,,10199,Early-onset X-linked optic atrophy,Childhood,X-linked recessive
98888,X-linked complex spastic paraplegia,Clinical group,Group of disorders,,,,,C5680316,,,,,,
98893,Congenital muscular dystrophy type 1B,Disease,Disorder,8C70.6,0011486,G71.2,604801,C1858118,C565748,,,Congenital muscular dystrophy type 1B,"Infancy, Neonatal",Autosomal recessive
98894,Congenital muscular dystrophy type 1D,Disease,Disorder,,,,,C1837229,,,,,,
98892,Periventricular nodular heterotopia,Clinical subtype,Subtype of disorder,LA05.5Y,0020341,Q04.8,615544,C1868720,D054091,10066854,12724,Periventricular nodular heterotopia,Childhood,"Autosomal dominant, Autosomal recessive, X-linked dominant"
98912,"Late-onset distal myopathy, Markesbery-Griggs type",Disease,Disorder,,0012277,G71.8,609452,C1836155,C563718,,1886,"Late-onset distal myopathy, Markesbery-Griggs type",Adult,Autosomal dominant
98911,Distal myotilinopathy,Disease,Disorder,8C76,0012215,G71.8,609200,C4707358,,,,Distal myotilinopathy,"Adult, Elderly",Autosomal dominant
98914,Presynaptic congenital myasthenic syndromes,Etiological subtype,Subtype of disorder,8C61,,G70.2,617239,C0751884,,,,Presynaptic congenital myasthenic syndromes,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
98913,Postsynaptic congenital myasthenic syndrome,Etiological subtype,Subtype of disorder,8C61,0020344,G70.2,615120,C0751883,,,,Postsynaptic congenital myasthenic syndrome,"Infancy, Neonatal",Autosomal recessive
98916,Acute inflammatory demyelinating polyradiculoneuropathy,Disease,Disorder,8C01.0,0020347,G61.0,139393,C4551910,,,,Acute inflammatory demyelinating polyradiculoneuropathy,All ages,"Multigenic/multifactorial, Not applicable"
98915,Synaptic congenital myasthenic syndrome,Etiological subtype,Subtype of disorder,8C61,,G70.2,603034,C5681640,,,,Synaptic congenital myasthenic syndrome,"Infancy, Neonatal",Autosomal recessive
98918,Acute motor axonal neuropathy,Disease,Disorder,8C01.0,0020349,G61.0,,C3890941,,10076658,,Acute motor axonal neuropathy,All ages,"Multigenic/multifactorial, Not applicable"
98917,Acute motor and sensory axonal neuropathy,Disease,Disorder,8C01.0,0020348,G61.0,,C3900111,,10076657,,Acute motor and sensory axonal neuropathy,All ages,"Multigenic/multifactorial, Not applicable"
98904,Congenital myopathy with excess of thin filaments,Disease,Disorder,8C72.0Y,,G71.2,161800,C3711389,,,,Congenital myopathy with excess of thin filaments,,Autosomal dominant
98905,Congenital multicore myopathy with external ophthalmoplegia,Clinical subtype,Subtype of disorder,8C72.0Y,0009712,G71.2,255320,C1850674,C564969,,10316,Congenital multicore myopathy with external ophthalmoplegia,"Infancy, Neonatal",Autosomal recessive
98908,Neutral lipid storage disease with myopathy,Disease,Disorder,5C52.2,0012545,E75.5,610717,C1853136,C565192,,10288,Neutral lipid storage disease with myopathy,Adult,Autosomal recessive
98907,Neutral lipid storage disease with ichthyosis,Disease,Disorder,5C52.2,0010155,E75.5,275630,C0268238,C536560,,3979,Neutral lipid storage disease with ichthyosis,"Infancy, Neonatal",Autosomal recessive
98910,Alpha-crystallinopathy,Clinical group,Group of disorders,,,,,C5680317,,,,,,
98909,Desminopathy,Disease,Disorder,8C76,0011076,G71.8,601419,C1832370,C563319,,,Desminopathy,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
98932,OBSOLETE: Shy-Drager syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
98933,"Multiple system atrophy, parkinsonian type",Clinical subtype,Subtype of disorder,8D87.01,0020352,G23.2,,C5554235,,,,"Multiple system atrophy, parkinsonian type",Adult,Not applicable
98934,Huntington disease-like 2,Disease,Disorder,8A01.11,0011671,G10,606438,C1847987,C564708,,,Huntington disease-like 2,Adult,Autosomal dominant
98919,Miller Fisher syndrome,Disease,Disorder,8C01.0,0005851,G61.0,,C0393799,D019846,10049567,3668,Miller Fisher syndrome,All ages,"Multigenic/multifactorial, Not applicable"
98920,Spinal muscular atrophy with respiratory distress type 1,Disease,Disorder,8B61.0,0011436,G12.2,604320,C1858517,C536880,,8592,Spinal muscular atrophy with respiratory distress type 1,"Infancy, Neonatal",Autosomal recessive
98922,Blake pouch cyst,Morphological anomaly,Disorder,,0020351,Q03.1,,C3662124,,,,,,
98941,OBSOLETE: Von Hippel anomaly,Malformation syndrome,Disorder,,,,,,,,,,,
98942,Coloboma of choroid and retina,Morphological anomaly,Disorder,LA13.1,0020354,Q14.8,120200,C4708599,,,,Coloboma of choroid and retina,,Autosomal dominant
98938,Colobomatous microphthalmia,Malformation syndrome,Disorder,LA10.0,0000170,Q11.2,601186,C4255043,,,3644,Colobomatous microphthalmia,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
98949,Complete cryptophthalmia,Clinical subtype,Subtype of disorder,LA14.01,0020360,Q11.2,,C5437887,,,,Complete cryptophthalmia,"Antenatal, Neonatal",
98950,Partial cryptophthalmia,Clinical subtype,Subtype of disorder,LA14.01,0020361,Q11.2,,C5681641,,,,Partial cryptophthalmia,"Antenatal, Neonatal",
98947,Coloboma of optic disc,Morphological anomaly,Disorder,LA13.76,,Q14.2,620731,C0155299,,,1438,,,
98948,Congenital symblepharon,Clinical subtype,Subtype of disorder,LA14.01,0020359,Q11.2,,C0152454,,,,Congenital symblepharon,"Antenatal, Neonatal",
98945,Coloboma of macula,Morphological anomaly,Disorder,LA13.2,0007351,Q14.8,620731,C1852767,C535968,,1436,,,
98946,Coloboma of eyelid,Morphological anomaly,Disorder,LA14.00,0020357,Q10.3,620731,C0521573,,,,,,
98943,Coloboma of eye lens,Morphological anomaly,Disorder,LA12.0,0020355,Q12.2,620731,C0344516,,,1433,,,
98944,Coloboma of iris,Morphological anomaly,Disorder,LA11.4,0020356,Q13.0,120200,C0266551,,10052642,1434,,,
98958,Climatic droplet keratopathy,Disease,Disorder,9A70.Y,0020363,H18.4,,C0339300,,,,,,
98957,Gelatinous drop-like corneal dystrophy,Disease,Disorder,9A70.Y,0008777,H18.5,204870,C0339273,C535480,,9647,Gelatinous drop-like corneal dystrophy,Childhood,Autosomal recessive
98956,Epithelial basement membrane dystrophy,Disease,Disorder,9A70.Y,0007375,H18.5,121820,C0521723,C535477,,9732,Epithelial basement membrane dystrophy,,Autosomal dominant
98955,Lisch epithelial corneal dystrophy,Disease,Disorder,9A70.Y,0010425,H18.5,620763,C2749050,C567588,,,Lisch epithelial corneal dystrophy,Childhood,X-linked dominant
98954,Meesmann corneal dystrophy,Disease,Disorder,9A70.Y,0007379,H18.5,122100,C0339277,D053559,,9688,Meesmann corneal dystrophy,Childhood,Autosomal dominant
98951,Inverse Marcus-Gunn phenomenon,Clinical subtype,Subtype of disorder,9A03.00,0020362,Q07.8,,C5548210,,,,,,
98964,Lattice corneal dystrophy type I,Disease,Disorder,9A70.Y,0007380,H18.5,608471,C1690006,C537881,,9678,Lattice corneal dystrophy type I,All ages,Autosomal dominant
98963,Granular corneal dystrophy type II,Disease,Disorder,9A70.Y,0011855,H18.5,607541,C1275685,C535474,,9278,Granular corneal dystrophy type II,Childhood,Autosomal dominant
98962,Granular corneal dystrophy type I,Disease,Disorder,9A70.Y,0007377,H18.5,121900,C1641846,C537304,,9677,Granular corneal dystrophy type I,Childhood,Autosomal dominant
98961,Reis-Bücklers corneal dystrophy,Disease,Disorder,9A70.Y,0012043,H18.5,608470,C0339278,C535476,,9276,Reis-Bücklers corneal dystrophy,Childhood,Autosomal dominant
98960,Thiel-Behnke corneal dystrophy,Disease,Disorder,9A70.Y,0011185,H18.5,602082,C1562894,C535942,,9275,Thiel-Behnke corneal dystrophy,"Adolescent, Adult, Childhood",Autosomal dominant
98959,Subepithelial mucinous corneal dystrophy,Disease,Disorder,9A70.Y,0013026,H18.5,612867,C2748503,C567547,,,Subepithelial mucinous corneal dystrophy,Childhood,Autosomal dominant
98971,Posterior amorphous corneal dystrophy,Disease,Disorder,9A70.Y,0013027,H18.5,612868,C2748502,C567546,,,Posterior amorphous corneal dystrophy,"Infancy, Neonatal",Autosomal dominant
98972,Central cloudy dystrophy of François,Disease,Disorder,9A70.Y,0009018,H18.5,217600,C1622427,C563262,,,Central cloudy dystrophy of François,Childhood,Autosomal dominant
98973,Posterior polymorphous corneal dystrophy,Disease,Disorder,LA11.5,0020364,H18.5,122000,C0339284,,,,Posterior polymorphous corneal dystrophy,Childhood,Autosomal dominant
98974,Fuchs endothelial corneal dystrophy,Disease,Disorder,9A70.0,0005321,H18.5,615523,C0016781,D005642,,10018,Fuchs endothelial corneal dystrophy,Adult,"Autosomal dominant, Multigenic/multifactorial, Not applicable"
98967,Schnyder corneal dystrophy,Disease,Disorder,9A70.Y,0007374,H18.5,121800,C0271287,C535475,,9277,Schnyder corneal dystrophy,All ages,Autosomal dominant
98968,Central discoid corneal dystrophy,Disease,Disorder,,,,,,,,,,,
98969,Macular corneal dystrophy,Disease,Disorder,9A70.Y,0009020,H18.5,217800,C0024439,,10025406,6953,Macular corneal dystrophy,All ages,Autosomal recessive
98970,Fleck corneal dystrophy,Disease,Disorder,9A70.Y,0007376,H18.5,121850,C1562113,C563256,,,Fleck corneal dystrophy,All ages,Autosomal dominant
98979,Chandler syndrome,Clinical subtype,Subtype of disorder,LA11.Y,0020369,H21.2,,C0544008,,10057487,6033,,,
98980,Cogan-Reese syndrome,Clinical subtype,Subtype of disorder,LA11.Y,0020370,H21.2,,C1168173,,10059200,6125,,,
98981,Essential iris atrophy,Clinical subtype,Subtype of disorder,9A90.2,0020371,H21.2,,C0271111,,,,,,
98975,Congenital hereditary endothelial dystrophy type I,Disease,Disorder,,0020365,,122000,C1562945,,,,,,
98976,Congenital glaucoma,Disease,Disorder,9C61.40,,Q15.0,617272,C0020302,,,2485,Congenital glaucoma,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
98977,Juvenile glaucoma,Disease,Disorder,9C61.41,0020367,H40.1,611274,C2981140,,10064032,,Juvenile glaucoma,"Adolescent, Childhood",Autosomal dominant
98978,Axenfeld anomaly,Morphological anomaly,Disorder,LA11.2,0020368,Q15.0,602482,C0266548,,10058653,,Axenfeld anomaly,"Childhood, Infancy, Neonatal",Autosomal dominant
98988,Early-onset anterior polar cataract,Clinical subtype,Subtype of disorder,LA12.1,0020373,Q12.0,601202,C1855179,C538282,,1140,Early-onset anterior polar cataract,"Infancy, Neonatal",Autosomal dominant
98987,"OBSOLETE: Cataract, Hutterite type",Clinical subtype,Subtype of disorder,,,,,,,,,,,
98990,Coralliform cataract,Clinical subtype,Subtype of disorder,LA12.1,,Q12.0,115800,C1392104,,,,Coralliform cataract,"Infancy, Neonatal",Autosomal dominant
98989,Cerulean cataract,Clinical subtype,Subtype of disorder,LA12.1,0020374,Q12.0,614422,C0344523,C537955,10090531,9508,Cerulean cataract,Childhood,Autosomal dominant
98984,Pulverulent cataract,Clinical subtype,Subtype of disorder,LA12.1,0011430,Q12.0,116300,C1833118,C563426,,,Pulverulent cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
98983,"OBSOLETE: Congenital cataract, Volkmann type",Clinical subtype,Subtype of disorder,,,,,,,,,,,
98986,OBSOLETE: Coppock-like cataract,Clinical subtype,Subtype of disorder,,,,,,,,,,,
98985,Early-onset sutural cataract,Clinical subtype,Subtype of disorder,LA12.1,0020372,Q12.0,116100,C1854021,C565301,,,Early-onset sutural cataract,"Infancy, Neonatal",Autosomal dominant
98995,Early-onset zonular cataract,Clinical subtype,Subtype of disorder,LA12.1,0020379,Q12.0,613763,C5681642,C535342,,1898,Early-onset zonular cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
98992,Early-onset partial cataract,Clinical subtype,Subtype of disorder,LA12.1,0020377,Q12.0,115800,C5681643,,,,Early-onset partial cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
98991,Early-onset nuclear cataract,Clinical subtype,Subtype of disorder,LA12.1,0020376,Q12.0,611391,C5681644,,,,Early-onset nuclear cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
98994,Total early-onset cataract,Clinical subtype,Subtype of disorder,LA12.1,0021548,Q12.0,618415,C0266539,C535341,,1159,Total early-onset cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
98993,Early-onset posterior polar cataract,Clinical subtype,Subtype of disorder,LA12.1,0020378,Q12.0,619593,C0858617,,,,Early-onset posterior polar cataract,"Infancy, Neonatal",Autosomal dominant
99001,Butterfly-shaped pigment dystrophy,Disease,Disorder,9B70,0100466,H35.5,610125,C4511237,,,,Butterfly-shaped pigment dystrophy,Adult,Autosomal dominant
99002,Reticular dystrophy of the retinal pigment epithelium,Disease,Disorder,9B70,0009979,H35.5,179840,C1867332,C566721,,,Reticular dystrophy of the retinal pigment epithelium,Adult,"Autosomal recessive, Unknown"
99000,Adult-onset foveomacular vitelliform dystrophy,Disease,Disorder,9B70,0011979,H35.5,616152,C1842914,,,10909,Adult-onset foveomacular vitelliform dystrophy,Adult,"Autosomal dominant, Not applicable"
99003,Multifocal pattern dystrophy simulating fundus flavimaculatus,Disease,Disorder,9B70,0020382,H35.5,,C4509881,,,,Multifocal pattern dystrophy simulating fundus flavimaculatus,Adult,Autosomal dominant
99004,Fundus pulverulentus,Disease,Disorder,9B70,0020383,H35.5,,C4749286,,,,,,
99013,Spastic paraplegia type 7,Disease,Disorder,8B44.01,0011803,G11.4,607259,C3711370,C580457,,4927,Spastic paraplegia type 7,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Autosomal recessive"
99014,X-linked Charcot-Marie-Tooth disease type 5,Disease,Disorder,LD90.Y,0010699,G60.0,311070,C1839566,,,114,X-linked Charcot-Marie-Tooth disease type 5,"Childhood, Infancy",X-linked recessive
99012,"OBSOLETE: Autosomal recessive optic atrophy, OPA6 type",Clinical subtype,Subtype of disorder,,,,,,,,,,,
99015,Spastic paraplegia type 2,Disease,Disorder,LD90.Y,0010733,G11.4,312920,C1839264,C536857,,4923,Spastic paraplegia type 2,Childhood,X-linked recessive
99022,OBSOLETE: Niemann-Pick disease type E,Disease,Disorder,,,,,,,,,,,
585867,Acute myeloid leukemia with t(9;22)(q34.1;q11.2),Disease,Disorder,2A60.0,0035112,C92.0,,C4329268,,,,Acute myeloid leukemia with t(9;22)(q34.1;q11.2),"Adolescent, Adult, Childhood, Elderly, Infancy, Neonatal",
585877,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,Etiological subtype,Subtype of disorder,,0035605,C91.0,,C2698313,,,,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,"Adolescent, Adult, Childhood, Elderly, Infancy",
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),Etiological subtype,Subtype of disorder,2A70.1,0035940,C91.0,,C5680319,,,,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
585936,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,Etiological subtype,Subtype of disorder,2A70.Y,0035943,C91.0,,C2698311,,,,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,"Adolescent, Adult, Childhood",
585942,B-lymphoblastic leukemia/lymphoma with hypodiploidy,Etiological subtype,Subtype of disorder,2A70.Y,0035944,C91.0,,C2698312,,,,B-lymphoblastic leukemia/lymphoma with hypodiploidy,"Adolescent, Adult, Childhood",
585918,B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),Etiological subtype,Subtype of disorder,2A70.Y,0035941,C91.0,,C2698309,,,,B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),"Adolescent, Adult, Childhood, Infancy",
585929,B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),Etiological subtype,Subtype of disorder,2A70.Y,0035942,C91.0,,C2698314,,,,B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),"Adolescent, Adult, Childhood",
99027,Adult-onset autosomal dominant leukodystrophy,Disease,Disorder,8A44.1,0008215,E75.2,169500,C1868512,C566813,,10587,Adult-onset autosomal dominant leukodystrophy,Adult,Autosomal dominant
585956,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),Etiological subtype,Subtype of disorder,2A70.Y,0600030,C91.0,,C2698315,,,,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),"Adolescent, Adult, Childhood",
585948,B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),Etiological subtype,Subtype of disorder,2A70.Y,0035945,C91.0,,C2698316,,,,B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),"Adolescent, Adult, Childhood",
586130,Sporadic fatal insomnia,Disease,Disorder,6D85.5,0035614,A81.9,,C5567889,,,,Sporadic fatal insomnia,"Adult, Elderly",
99042,Congenitally uncorrected transposition of the great arteries with coarctation,Clinical subtype,Subtype of disorder,,0020385,Q20.3,,C5680321,,,,Congenitally uncorrected transposition of the great arteries with coarctation,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
99043,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,Clinical subtype,Subtype of disorder,,0020386,Q21.3,,,,,,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,,Multigenic/multifactorial
99044,Double outlet right ventricle with subaortic ventricular septal defect,Clinical subtype,Subtype of disorder,,,,,C1956411,,,,,,
99045,Double outlet right ventricle with subpulmonary ventricular septal defect,Clinical subtype,Subtype of disorder,LA85.20,0020387,Q20.1,,C1956412,,,,Double outlet right ventricle with subpulmonary ventricular septal defect,,Multigenic/multifactorial
99046,Double outlet right ventricle with non-committed subpulmonary ventricular septal defect,Clinical subtype,Subtype of disorder,LA85.21,0020388,Q20.1,,C1956410,,,,Double outlet right ventricle with non-committed subpulmonary ventricular septal defect,,Multigenic/multifactorial
99048,Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome,Malformation syndrome,Disorder,LA8A.Y,0020389,Q22.2,,C5191313,,,,,,
99047,Double outlet right ventricle with doubly committed ventricular septal defect,Clinical subtype,Subtype of disorder,,,,,C0344644,,,,,,
99050,Abnormal origin of right or left pulmonary artery from the aorta,Morphological anomaly,Disorder,LA8B.1,0020391,Q25.7,,C3838927,,,4586,Abnormal origin of right or left pulmonary artery from the aorta,"Infancy, Neonatal",
99049,Pulmonary artery coming from patent ductus arteriosus,Morphological anomaly,Disorder,LA8B.1,0020390,Q25.7,,C3163916,,,,,,
99052,Discrete fibromuscular subaortic stenosis,Clinical subtype,Subtype of disorder,LA8A.5,0020393,Q24.4,,C5681645,,,,,,
99051,Discrete fixed membranous subaortic stenosis,Clinical subtype,Subtype of disorder,LA8A.5,,Q24.4,271950,C5681646,,,,,,
99054,Valvular pulmonary stenosis,Clinical subtype,Subtype of disorder,,0020395,Q22.1,,C1860336,D011666,10037450,,,,
99053,Tunnel subaortic stenosis,Clinical subtype,Subtype of disorder,LA8A.Y,0020394,Q24.4,,C5681647,,,,,,
99056,Parachute tricuspid valve,Morphological anomaly,Disorder,LA87.0Y,0020397,Q22.8,,C0344755,,,,,,
99055,Congenital anomaly of the tricuspid valve chordae,Morphological anomaly,Disorder,LA87.0Y,0020396,Q22.8,,C3165162,,,,,,
99058,Hypoplasia of the mitral valve annulus,Morphological anomaly,Disorder,LA87.1Y,0020399,Q23.2,,C3165203,,,,,,
99057,Congenital mitral stenosis,Morphological anomaly,Disorder,LA87.11,0020398,Q23.2,,C0158618,,10010548,1496,,,
99060,Congenital unguarded mitral orifice,Morphological anomaly,Disorder,LA87.1Y,0020401,Q23.3,,C0344769,,,,,,
99059,Congenital supravalvular mitral ring,Morphological anomaly,Disorder,LA87.1Y,0020400,Q23.2,,C0265851,,,,,,
99062,Mitral valve agenesis,Morphological anomaly,Disorder,LA87.1Y,0020403,Q23.3,,C0685721,,,,,,
99061,Accessory mitral valve tissue,Morphological anomaly,Disorder,LA87.1Y,0020402,Q23.8,,C0344774,,,,,,
98609,EEC syndrome and related disorders,Category,Group of disorders,,,,,C5680323,,,,,,
98610,Rare disorder with conjunctival involvement as a major feature,Category,Group of disorders,,,,,C5681650,,,,,,
98608,OBSOLETE: Anomaly of the secretory and excretory apparatus of the lacrimal system,Category,Group of disorders,,,,,,,,,,,
98613,OBSOLETE: Conjunctival telangiectasia,Category,Group of disorders,,,,,,,,,,,
98614,OBSOLETE: Conjunctival lymphangiectasia,Category,Group of disorders,,,,,,,,,,,
98611,OBSOLETE: Conjunctival vascular anomaly,Category,Group of disorders,,,,,,,,,,,
98612,OBSOLETE: Conjunctival hemangioma or hemolymphangioma,Category,Group of disorders,,,,,,,,,,,
98601,OBSOLETE: Eyebrow/eyelashes pigmentation anomaly,Category,Group of disorders,,,,,,,,,,,
98602,Rare disorder of the lacrimal apparatus,Category,Group of disorders,,,,,C5680324,,,,,,
98599,OBSOLETE: Eyebrow/eyelashes structural anomaly,Category,Group of disorders,,,,,,,,,,,
98600,OBSOLETE: Eyebrow/eyelashes distichiasis,Category,Group of disorders,,,,,,,,,,,
98605,Lacrimal drainage system anomaly,Category,Group of disorders,,,,,C5680325,,,,,,
98606,Syndromic orbital border hypoplasia,Malformation syndrome,Disorder,LA14.2,0008138,Q10.7,165600,C4273912,,,,Syndromic orbital border hypoplasia,Neonatal,
98603,OBSOLETE: Secretory apparatus of the lacrimal system anomaly,Category,Group of disorders,,,,,,,,,,,
98604,Congenital alacrima,Category,Group of disorders,,,,,C1863199,C566307,,,,,
98594,Rare eyebrow/eyelash disorder,Category,Group of disorders,,,,,C5680326,,,,,,
98593,OBSOLETE: Neurogenic palpebral tumor,Disease,Disorder,,,,,,,,,,,
98592,OBSOLETE: Palpebral tumor with a vascular malformation,Category,Group of disorders,,,,,,,,,,,
98591,OBSOLETE: Mesenchymatous palpebral tumor,Category,Group of disorders,,,,,,,,,,,
98598,OBSOLETE: Congenital absence of the eyebrow/eyelashes,Category,Group of disorders,,,,,,,,,,,
98597,OBSOLETE: Eyelashes hypertrophy,Category,Group of disorders,,,,,,,,,,,
98596,OBSOLETE: Eyebrow hypertrophy,Category,Group of disorders,,,,,,,,,,,
98595,OBSOLETE: Eyebrow/eyelashes hypertrichosis,Category,Group of disorders,,,,,,,,,,,
98586,OBSOLETE: Pigmented palpebral tumor,Category,Group of disorders,,,,,,,,,,,
98585,OBSOLETE: Palpebral sebaceous gland tumor,Category,Group of disorders,,,,,,,,,,,
98584,OBSOLETE: Malignant tumor of palpebral epidermis,Category,Group of disorders,,,,,,,,,,,
98583,OBSOLETE: Precancerous lesion of palpebral epidermis,Category,Group of disorders,,,,,,,,,,,
98590,OBSOLETE: Palpebral piliary tumor,Category,Group of disorders,,,,,,,,,,,
98589,OBSOLETE: Palpebral malignant melanoma,Category,Group of disorders,,,,,,,,,,,
98588,OBSOLETE: Palpebral nevus,Category,Group of disorders,,,,,,,,,,,
98587,OBSOLETE: Palpebral lentiginosis,Category,Group of disorders,,,,,,,,,,,
98575,Syndromic telecanthus,Category,Group of disorders,,,,,C0423113,,,,,,
98576,Syndromic outer canthal malposition,Category,Group of disorders,,,,,C5680327,,,,,,
98577,OBSOLETE: Kinetic eyelid anomaly,Category,Group of disorders,,,,,,,,,,,
98578,Rare disorder with ptosis,Category,Group of disorders,,,,,C5681651,D001763,,,,,
98579,OBSOLETE: Congenital upper palpebral retraction,Category,Group of disorders,,,,,,,,,,,
98580,OBSOLETE: Palpebral tumor,Category,Group of disorders,,,,,,,,,,,
98581,OBSOLETE: Palpebral epidermal tumor,Category,Group of disorders,,,,,,,,,,,
98582,OBSOLETE: Benign tumor of palpebral epidermis,Category,Group of disorders,,,,,,,,,,,
98567,Rare eyelid malposition disorder,Category,Group of disorders,,,,,,,,,,,
98568,OBSOLETE: Congenital entropion,Category,Group of disorders,,,,,,,,,,,
98569,OBSOLETE: Secondary entropion,Category,Group of disorders,,,,,,,,,,,
98570,Congenital ectropion,Category,Group of disorders,LA14.03,0020161,Q10.1,,C0266578,,,,,,
98571,Secondary ectropion,Category,Group of disorders,,,H02.1,,C5681652,,,,,,
98572,OBSOLETE: Canthal anomaly,Category,Group of disorders,,,,,,,,,,,
98573,OBSOLETE: Epicanthal fold,Category,Group of disorders,,,,,,,,,,,
98574,Syndromic epicanthus,Category,Group of disorders,,,,,C5681653,,,,,,
98560,Rare palpebral disorder,Category,Group of disorders,,,,,C5681654,,,,,,
98559,"OBSOLETE: Rare palpebral, lacrimal system and conjunctival disease",Category,Group of disorders,,,,,,,,,,,
98562,Cryptophthalmia,Category,Group of disorders,LA14.01,0020153,,,C0311249,,10011497,10505,,,
98561,Congenital malformation of the eyelid,Category,Group of disorders,,,,,C0266572,,10061146,,,,
98564,Eyelid border anomaly,Category,Group of disorders,,,,,C5681655,,,,,,
98563,Microblepharon-ablephara syndrome,Clinical group,Group of disorders,,,,,C5681656,,,,,,
98566,Syndromic eyelid coloboma,Category,Group of disorders,,,,,C5680328,,,,,,
98565,Syndromic ankyloblepharon filiforme adnatum,Category,Group of disorders,,,,,C5680329,,,,,,
98554,OBSOLETE: Major induction processes eye anomaly,Category,Group of disorders,,,,,,,,,,,
98553,Developmental defect of the eye,Category,Group of disorders,,,,216820,C5681657,,,,,,
98555,Microphthalmia-anophthalmia-coloboma,Category,Group of disorders,,,,,C5680330,,,,Microphthalmia-anophthalmia-coloboma,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
98558,OBSOLETE: Rare eye disease due to a differentiation anomaly,Category,Group of disorders,,,,,,,,,,,
98557,Syndromic aniridia,Category,Group of disorders,,,,,C5681658,,,,,,
98677,OBSOLETE: Autosomal recessive syndromic optic atrophy,Category,Group of disorders,,,,,,,,,,,
98678,OBSOLETE: X-linked recessive optic atrophy,Category,Group of disorders,,,,,,,,,,,
98675,OBSOLETE: Autosomal recessive optic atrophy,Category,Group of disorders,,,,,,,,,,,
98676,Autosomal recessive isolated optic atrophy,Disease,Disorder,9C40.8,0014753,H47.2,616732,C5680331,,,,Autosomal recessive isolated optic atrophy,"Childhood, Infancy, Neonatal",Autosomal recessive
98673,"Autosomal dominant optic atrophy, classic form",Disease,Disorder,9C40.8,0008134,H47.2,610708,C0338508,,,,"Autosomal dominant optic atrophy, classic form","Adolescent, Adult, Childhood",Autosomal dominant
98671,Hereditary optic neuropathy,Category,Group of disorders,9C40.8,0020249,,,,,10061323,,,,
98672,Autosomal dominant optic atrophy,Clinical group,Group of disorders,,0020250,,,C4551508,D029241,,11972,Autosomal dominant optic atrophy,Childhood,Autosomal dominant
98669,OBSOLETE: Congenital vitreoretinal dysplasia,Category,Group of disorders,,,,,,,,,,,
98670,OBSOLETE: Vitreoretinal degeneration,Category,Group of disorders,,,,,,,,,,,
98667,OBSOLETE: Disease predisposing to age-related macular degeneration,Category,Group of disorders,,,,,,,,,,,
98668,Vitreoretinopathy,Category,Group of disorders,,,,,C0344290,,,,,,
98665,OBSOLETE: Colobomatous and areolar dystrophy,Category,Group of disorders,,,,,,,,,,,
98666,OBSOLETE: Unclassified primitive or secondary maculopathy,Category,Group of disorders,,,,,,,,,,,
98664,OBSOLETE: Genetic macular dystrophy,Category,Group of disorders,,,,,,,,,,,
98662,OBSOLETE: Unclassified familial retinal dystrophy,Category,Group of disorders,,,,,,,,,,,
98661,OBSOLETE: Syndromic rod-cone dystrophy,Category,Group of disorders,,,,,C5680332,,,,,,
98658,Color-vision disease,Category,Group of disorders,,0001703,H53.5,,C5681659,,,,,,
98657,OBSOLETE: Genetic vitreous-retinal disease,Category,Group of disorders,,,,,,,,,,,
98655,Lens shape anomaly,Category,Group of disorders,,,,,C0158553,,,,,,
98653,Lens position anomaly,Category,Group of disorders,,,,,C5681660,,,,,,
98652,Lens size anomaly,Category,Group of disorders,,,,,C5681661,,,,,,
98650,Craniofacial anomaly with cataract,Category,Group of disorders,,,,,C5681662,,,,,,
98649,Dentocutaneous disease with cataract,Category,Group of disorders,,,,,C5681663,,,,,,
98648,Musculoskeletal disease with cataract,Category,Group of disorders,,,,,C5681664,,,,,,
98647,OBSOLETE: Cardiac disease with cataract,Category,Group of disorders,,,,,,,,,,,
98643,OBSOLETE: Systemic disease with cataract,Category,Group of disorders,,,,,,,,,,,
98644,Metabolic disease with cataract,Category,Group of disorders,,,,,C5681665,,,,,,
98645,OBSOLETE: Cerebral disease with cataract,Category,Group of disorders,,,,,,,,,,,
98646,Renal disease with cataract,Category,Group of disorders,,,,,C5681666,,,,,,
98639,Rare lens disease,Category,Group of disorders,,,,,C5681667,,,,,,
98640,Rare disorder with lens opacification,Category,Group of disorders,,,,,C5680333,,,,,,
98641,Syndromic cataract,Category,Group of disorders,,,,,C5681668,,,,,,
98642,Chromosomal anomaly with cataract,Category,Group of disorders,,,,,C5681669,,,,,,
98635,Corneodysgenesis,Category,Group of disorders,,,,,C5680334,,,,,,
98636,OBSOLETE: Corneoiridogoniodysgenesis,Category,Group of disorders,,,,,,,,,,,
98637,OBSOLETE: Secondary glaucoma due to a proliferation and differentiation anomaly,Category,Group of disorders,,,,,,,,,,,
98638,Rare disease with glaucoma as a major feature,Category,Group of disorders,,,,,C5681670,,,,,,
98631,Congenital malformation of the eye with glaucoma as a major feature,Category,Group of disorders,,,,,C5681671,,,,,,
98632,OBSOLETE: Glaucoma associated with neural crest cell migration anomaly,Category,Group of disorders,,,,,,,,,,,
98633,OBSOLETE: Goniodysgenesis,Category,Group of disorders,,,,,,,,,,,
98634,Anterior segment developmental anomaly without extraocular manifestations,Category,Group of disorders,,,,,C5681672,,,,,,
98628,Syndromic corneal dystrophy,Category,Group of disorders,,,,,C5681673,,,,,,
98627,Posterior corneal dystrophy,Category,Group of disorders,,0020214,,,C2063478,,,,Posterior corneal dystrophy,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
98629,OBSOLETE: Rare glaucoma,Category,Group of disorders,,,,,,,,,,,
98623,Syndromic keratoconus,Category,Group of disorders,,,,,C5681674,,,,,,
98626,Stromal corneal dystrophy,Category,Group of disorders,,0020213,,,C0038457,,,,Stromal corneal dystrophy,All ages,"Autosomal dominant, Autosomal recessive"
98625,Superficial corneal dystrophy,Category,Group of disorders,,0020212,,,C2315777,,,,Superficial corneal dystrophy,All ages,"Autosomal dominant, X-linked recessive"
98620,OBSOLETE: Syndromic myopia,Category,Group of disorders,,,,,,,,,,,
98619,Rare isolated myopia,Disease,Disorder,9D00.0,0020207,H52.1,615431,C4751232,,,,Rare isolated myopia,,"Autosomal dominant, Autosomal recessive"
98622,Syndromic hyperopia,Category,Group of disorders,,,,,C5681675,,,,,,
98621,Rare hyperopia and astigmatism,Category,Group of disorders,,,,,C5681676,,,,,,
98616,OBSOLETE: Conjunctival tumor,Category,Group of disorders,,,,,,,,,,,
98615,OBSOLETE: Pigmented conjunctival lesion,Category,Group of disorders,,,,,,,,,,,
98618,Rare refraction anomaly,Category,Group of disorders,,,,,C5681677,,,,,,
98617,OBSOLETE: Bulbar conjunctival dermoid or conjunctival dermolipoma,Category,Group of disorders,,,,,,,,,,,
583602,Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency,Etiological subtype,Subtype of disorder,LD20.1,0014466,Q87.8,616038,C5680335,,,,Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency,,Autosomal recessive
98730,OBSOLETE: Atrioventricular discordance,Category,Group of disorders,,,,,,,,,,,
583607,Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,Etiological subtype,Subtype of disorder,LD20.1,0009736,Q87.8,256520,C5680336,,,,Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,,Autosomal recessive
98729,Congenital pulmonary veins anomaly,Category,Group of disorders,,0020295,,,C0265914,,,,,,
583595,"Serine biosynthesis pathway deficiency, infantile/juvenile form",Disease,Disorder,5C50.6,0035004,E72.8,601815,C5681678,,,,"Serine biosynthesis pathway deficiency, infantile/juvenile form","Antenatal, Infancy, Neonatal",
98727,Rare atrial defect and interatrial communication,Category,Group of disorders,,,,,C5680337,,,,,,
98734,OBSOLETE: Cardioskeletal syndrome,Category,Group of disorders,,,,,,,,,,,
98733,Noonan syndrome and Noonan-related syndrome,Category,Group of disorders,,0020297,,,C5681679,,,,,,
583612,Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency,Etiological subtype,Subtype of disorder,LD20.1,0035930,Q87.8,,C5680338,,,,Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency,,Autosomal recessive
98732,OBSOLETE: Syndrome associated with a congenital cardiopathy,Category,Group of disorders,,,,,,,,,,,
98731,OBSOLETE: Congenital arteriovenous fistula,Category,Group of disorders,,,,,,,,,,,
583856,Isolated splenic vein thrombosis,Disease,Disorder,DB98.4,0035008,I82.8,,C0272416,,10041659,,Isolated splenic vein thrombosis,"Adult, Elderly",
98738,Neurological muscular channelopathy due to a genetic sodium channel defect,Category,Group of disorders,,0957111,,,C5681681,,,,,,
583861,Isolated mesenteric vein thrombosis,Disease,Disorder,DD30.2,0035009,K55.0,,C0267412,,,,Isolated mesenteric vein thrombosis,"Adult, Elderly",
98737,Genetic neurological muscular channelopathy,Category,Group of disorders,,,,,C5681683,,,,,,
98736,OBSOLETE: Genetic neurological channelopathy,Category,Group of disorders,,,,,,,,,,,
98742,Neurological muscular channelopathy due to a genetic ryanodine receptor defect,Category,Group of disorders,,0957115,,,C5681684,,,,,,
98741,Neurological muscular channelopathy due to a genetic potassium channel defect,Category,Group of disorders,,0957114,,,C5681685,,,,,,
98740,Neurological muscular channelopathy due to a genetic calcium channel defect,Category,Group of disorders,,0957113,,,C5681686,,,,,,
98739,Neurological muscular channelopathy due to a genetic chloride channel defect,Category,Group of disorders,,0957112,,,C5681687,,,,,,
98713,OBSOLETE: Metabolic disease with pigmentary retinitis,Category,Group of disorders,,,,,,,,,,,
98714,OBSOLETE: Metabolic disease with macular cherry-red spot,Category,Group of disorders,,,,,,,,,,,
98711,OBSOLETE: Metabolic disease with corneal opacity,Category,Group of disorders,,,,,,,,,,,
98712,OBSOLETE: Metabolic disease with cataract,Category,Group of disorders,,,,,,,,,,,
98717,Transposition of the great arteries and conotruncal cardiac anomaly,Category,Group of disorders,,,,,C5681688,,,,,,
98718,Aortic malformation,Category,Group of disorders,,,,,C5681689,,,,,,
98715,Uveitis,Category,Group of disorders,,0020283,,,C0042164,D014605,10046851,,,,
98716,Heart position anomaly,Category,Group of disorders,,,,,C5681690,,,,,,
98721,Congenital tricuspid malformation,Category,Group of disorders,,0020289,,,C5681691,,,,,,
98722,Atrioventricular septal defect,Clinical group,Group of disorders,LA87.4,,Q21.2,615779,C1389018,C562831,10063836,802,,,
98719,Pulmonary artery or pulmonary branch anomaly,Category,Group of disorders,,,,,C5681692,,,,,,
98720,Atrioventricular valve anomaly,Category,Group of disorders,,,,,C5681693,,,,,,
98725,Ascending aorta anomaly,Category,Group of disorders,,,,,C0345043,,,,,,
98726,OBSOLETE: Pulmonary artery/pulmonary branch anomaly,Category,Group of disorders,,,,,,,,,,,
98723,Hypoplastic right heart syndrome,Clinical group,Group of disorders,,0020291,Q22.6,,C0344963,,10064962,2922,Hypoplastic right heart syndrome,Neonatal,
98724,Congenital anomaly of the great arteries,Category,Group of disorders,,0020292,,,C0948632,,,,,,
98696,OBSOLETE: Genodermatosis with ocular features,Category,Group of disorders,,,,,,,,,,,
98695,OBSOLETE: Mitochondrial disease with eye involvement,Category,Group of disorders,,,,,,,,,,,
98698,OBSOLETE: Ichthyosis associated with ocular features,Category,Group of disorders,,,,,,,,,,,
98697,OBSOLETE: Genetic keratinization disorder associated with ocular features,Category,Group of disorders,,,,,,,,,,,
98700,OBSOLETE: Pigmentation disorder with eye involvement,Category,Group of disorders,,,,,,,,,,,
98699,OBSOLETE: Syndromic ichthyosis associated with ocular features,Category,Group of disorders,,,,,,,,,,,
98702,OBSOLETE: Connective tissue disease with eye involvement,Category,Group of disorders,,,,,,,,,,,
98701,OBSOLETE: Phakomatosis with eye involvement,Category,Group of disorders,,,,,,,,,,,
98704,OBSOLETE: Onycho-patellar syndrome with eye involvement,Category,Group of disorders,,,,,,,,,,,
98703,OBSOLETE: Disease with potential neoplastic degeneration associated with ocular features,Category,Group of disorders,,,,,,,,,,,
98706,Oculocutaneous or ocular albinism,Category,Group of disorders,,,E70.3,,C5681694,,,,,,
98708,"OBSOLETE: Pigmentation disorder with eye involvement, excluding albinism",Category,Group of disorders,,,,,,,,,,,
98710,OBSOLETE: Metabolic disease associated with ocular features,Category,Group of disorders,,,,,,,,,,,
98709,OBSOLETE: Ectodermal malformation syndrome associated with ocular features,Category,Group of disorders,,,,,,,,,,,
98681,Rare disorder with strabismus,Category,Group of disorders,,,,,C5681695,,,,,,
98682,NON RARE IN EUROPE: Essential strabismus,Disease,Disorder,,,,,,,,,,,
98683,Syndromic disorder with strabismus,Category,Group of disorders,,,,,C5680339,,,,,,
98684,Craniostenosis with strabismus,Category,Group of disorders,,,,,C5681696,,,,,,
98685,Rare oculomotor nerve disorder,Category,Group of disorders,,,,,C5681697,,,,,,
98686,Congenital trochlear nerve palsy,Disease,Disorder,9C81.1,0020256,H49.1,,C5680340,,,,Congenital trochlear nerve palsy,Neonatal,Not applicable
98687,Supranuclear eye movement disorder,Category,Group of disorders,,,,,C5681698,,,,,,
98688,Oculomotor apraxia,Category,Group of disorders,9C82.4,,,,C3489733,,,,,,
98689,OBSOLETE: Myopathy with eye involvement,Category,Group of disorders,,,,,,,,,,,
98690,OBSOLETE: Myasthenic syndrome with eye involvement,Category,Group of disorders,,,,,,,,,,,
98691,OBSOLETE: Abnormal eye movements,Category,Group of disorders,,,,,,,,,,,
583097,Congenital infiltrating lipomatosis of the face,Disease,Disorder,EF02.1,0035592,Q87.3,,C5680341,,,,Congenital infiltrating lipomatosis of the face,Neonatal,
98692,OBSOLETE: Nervous system anomaly with eye involvement,Category,Group of disorders,,,,,,,,,,,
98693,OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly,Category,Group of disorders,,,,,,,,,,,
98694,OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly,Category,Group of disorders,,,,,,,,,,,
98798,Isochromosomy Yq syndrome,Malformation syndrome,Disorder,,0020305,Q98.6,,C4749291,,,,Isochromosomy Yq syndrome,"Adolescent, Adult",
98797,Isochromosomy Yp syndrome,Malformation syndrome,Disorder,,0020304,Q98.6,,C4707793,,,,Isochromosomy Yp syndrome,"Adolescent, Adult",
98795,Angelman syndrome due to paternal uniparental disomy of chromosome 15,Etiological subtype,Subtype of disorder,LD90.0,0020303,Q93.5,105830,C5680342,,,,Angelman syndrome due to paternal uniparental disomy of chromosome 15,Infancy,
98794,Angelman syndrome due to maternal 15q11q13 deletion,Etiological subtype,Subtype of disorder,LD90.0,0020302,Q93.5,,C5566334,,,,Angelman syndrome due to maternal 15q11q13 deletion,Infancy,
98793,Prader-Willi syndrome due to paternal 15q11q13 deletion,Etiological subtype,Subtype of disorder,LD90.3,0020301,Q87.1,,C5681699,,,,Prader-Willi syndrome due to paternal 15q11q13 deletion,"Antenatal, Neonatal",Autosomal dominant
98791,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,Malformation syndrome,Disorder,3A50.1,,D56.0,141750,C0795917,C563050,,,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,"Infancy, Neonatal","Not applicable, Unknown"
98806,"Primary dystonia, DYT6 type",Disease,Disorder,8A02.0Y,0011264,G24.1,602629,C1414216,C538003,,9630,"Primary dystonia, DYT6 type","Adolescent, Adult, Childhood",Autosomal dominant
98805,"Primary dystonia, DYT4 type",Disease,Disorder,8A02.0Y,0007493,G24.1,128101,C1860315,C536698,,10138,"Primary dystonia, DYT4 type","Adolescent, Adult",Autosomal dominant
98788,Pitt-Rogers-Danks syndrome,Malformation syndrome,Disorder,,,,,C0796117,,,,,,
98784,Sleep-related hypermotor epilepsy,Disease,Disorder,8A61.4Y,0020300,G40.0,615005,C3696898,C579932,,11918,Sleep-related hypermotor epilepsy,"Adolescent, Adult, Childhood",Autosomal dominant
98764,Spinocerebellar ataxia type 27A,Disease,Disorder,8A03.16,0012247,G11.8,193003,C1836383,C537204,,9963,Spinocerebellar ataxia type 27A,"Adolescent, Adult",Autosomal dominant
98763,Spinocerebellar ataxia type 14,Disease,Disorder,8A03.16,0011540,G11.2,605361,C1854369,C537196,,9867,Spinocerebellar ataxia type 14,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
98766,Spinocerebellar ataxia type 5,Disease,Disorder,8A03.16,0010848,G11.2,600224,C0752123,,,4953,Spinocerebellar ataxia type 5,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
98765,Spinocerebellar ataxia type 4,Disease,Disorder,8A03.16,0010847,G11.2,600223,C0752122,,,9970,Spinocerebellar ataxia type 4,Adult,Autosomal dominant
98760,Spinocerebellar ataxia type 8,Disease,Disorder,8A03.16,0012116,G11.2,608768,C1837454,C537307,,4956,Spinocerebellar ataxia type 8,Adult,Autosomal dominant
98759,Spinocerebellar ataxia type 17,Disease,Disorder,8A03.16,0011781,G11.8,607136,C1846707,C564616,,10469,Spinocerebellar ataxia type 17,All ages,Autosomal dominant
98762,Spinocerebellar ataxia type 12,Disease,Disorder,8A03.16,0011439,G11.2,604326,C1858501,C565790,,10476,Spinocerebellar ataxia type 12,All ages,Autosomal dominant
98761,Spinocerebellar ataxia type 10,Disease,Disorder,8A03.16,0011330,G11.2,603516,C1963674,C566874,,10474,Spinocerebellar ataxia type 10,Adult,Autosomal dominant
98772,Spinocerebellar ataxia type 19/22,Disease,Disorder,8A03.16,0011819,G11.2,607346,C5235656,C537198,,12365,Spinocerebellar ataxia type 19/22,Adult,Autosomal dominant
98771,Spinocerebellar ataxia type 18,Disease,Disorder,8A03.16,0011834,G11.8,607458,C1843884,C537197,,9976,Spinocerebellar ataxia type 18,Adult,Autosomal dominant
98773,Spinocerebellar ataxia type 21,Disease,Disorder,8A03.16,0011833,G11.1,607454,C1843891,C537200,,9999,Spinocerebellar ataxia type 21,Adolescent,Autosomal dominant
98768,Spinocerebellar ataxia type 13,Disease,Disorder,8A03.16,0011529,G11.2,605259,C1854488,C537195,,9611,Spinocerebellar ataxia type 13,Adult,Autosomal dominant
98767,Spinocerebellar ataxia type 11,Disease,Disorder,8A03.16,0011464,G11.8,604432,C1858351,C565772,,10475,Spinocerebellar ataxia type 11,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
98770,Spinocerebellar ataxia type 16,Disease,Disorder,,,,,,,,,,,
98769,Spinocerebellar ataxia type 15/16,Disease,Disorder,8A03.16,0011694,G11.2,606658,C1847725,,,10477,Spinocerebellar ataxia type 15/16,"Adult, Elderly",Autosomal dominant
98747,Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect,Category,Group of disorders,,,,,C5681700,,,,,,
580940,QRICH1-related intellectual disability-chondrodysplasia syndrome,Malformation syndrome,Disorder,,0060707,Q87.8,617982,C4693824,,,,QRICH1-related intellectual disability-chondrodysplasia syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
98748,Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect,Category,Group of disorders,,,,,C5681701,,,,,,
98749,Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect,Category,Group of disorders,,,,,C5681702,,,,,,
580951,Punctate inner choroidopathy,Disease,Disorder,9B65.0,0035584,H31.0,,C0730321,,,7503,Punctate inner choroidopathy,Adult,
98750,Autoimmune neurological channelopathy,Category,Group of disorders,,,,,C5681703,,,,,,
98743,Genetic neurological channelopathy of the central nervous system,Category,Group of disorders,,,,,C5681704,,,,,,
98744,Neurological channelopathy of the central nervous system due to a genetic sodium channel defect,Category,Group of disorders,,,,,C5681705,,,,,,
580933,Lethal brain and heart developmental defects,Malformation syndrome,Disorder,LD2F.1Y,0035581,Q87.8,,C5688452,,,,Lethal brain and heart developmental defects,Antenatal,Autosomal recessive
98745,Neurological channelopathy of the central nervous system due to a genetic calcium channel defect,Category,Group of disorders,,,,,C5681707,,,,,,
98746,Neurological channelopathy of the central nervous system due to a genetic potassium channel defect,Category,Group of disorders,,,,,C5681708,,,,,,
98755,Spinocerebellar ataxia type 1,Disease,Disorder,8A03.16,0008119,G11.8,164400,C0752120,,,4071,Spinocerebellar ataxia type 1,All ages,Autosomal dominant
98756,Spinocerebellar ataxia type 2,Disease,Disorder,8A03.16,0008458,G11.2,183090,C0752121,,,4072,Spinocerebellar ataxia type 2,All ages,Autosomal dominant
98757,Spinocerebellar ataxia type 3,Disease,Disorder,8A03.16,0007182,G11.8,109150,C0024408,D017827,,6801,Spinocerebellar ataxia type 3,"Adult, Childhood",Autosomal dominant
98758,Spinocerebellar ataxia type 6,Disease,Disorder,8A03.16,0008457,G11.2,183086,C0752124,,,10351,Spinocerebellar ataxia type 6,"Adolescent, Adult, Elderly",Autosomal dominant
98751,OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect,Category,Group of disorders,,,,,,,,,,,
581271,Cramp-fasciculation syndrome,Disease,Disorder,,0035586,G90.8,604775,C0751381,,10081974,6205,Cramp-fasciculation syndrome,Adult,Autosomal dominant
98752,OBSOLETE: Autoimmune neurological channelopathy due to a potassium channel defect,Category,Group of disorders,,,,,,,,,,,
98753,OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect,Category,Group of disorders,,,,,,,,,,,
98754,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,Etiological subtype,Subtype of disorder,LD90.3,0020298,Q87.1,176270,C5680343,,,,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,"Adolescent, Adult",Not applicable
98336,OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with mycoplasma infection,Category,Group of disorders,,,,,,,,,,,
98335,OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect,Category,Group of disorders,,,,,,,,,,,
98338,OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with drug,Category,Group of disorders,,,,,,,,,,,
98337,OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with radiation,Category,Group of disorders,,,,,,,,,,,
98340,OBSOLETE: Male infertility with normal virilization due to acquired testicular defect associated with autoimmunity,Category,Group of disorders,,,,,,,,,,,
98339,OBSOLETE: Male infertility with normal virilization due to an acquired testicular defect associated with environmental toxin,Category,Group of disorders,,,,,,,,,,,
98342,OBSOLETE: Male infertility with normal virilization due to testicular defect associated with spinal cord injury,Category,Group of disorders,,,,,,,,,,,
98341,OBSOLETE: Male infertility with normal virilization due to a systemic disease,Category,Group of disorders,,,,,,,,,,,
98328,OBSOLETE: Male infertility with normal virilization,Category,Group of disorders,,,,,,,,,,,
98327,OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease,Category,Group of disorders,,,,,,,,,,,
98330,OBSOLETE: Male infertility with normal virilization due to androgen administration,Category,Group of disorders,,,,,,,,,,,
98329,OBSOLETE: Male infertility with normal virilization due to a hypothalamic or pituitary defect,Category,Group of disorders,,,,,,,,,,,
98332,OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect,Category,Group of disorders,,,,,,,,,,,
98331,OBSOLETE: Male infertility with normal virilization due to a testicular defect,Category,Group of disorders,,,,,,,,,,,
98334,OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with varicocele,Category,Group of disorders,,,,,,,,,,,
98333,OBSOLETE: Male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism,Category,Group of disorders,,,,,,,,,,,
98352,Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5680344,,,,Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature,,Autosomal dominant
98353,Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5680345,,,,Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature,,Autosomal dominant
98356,Autosomal recessive isolated diffuse palmoplantar keratoderma,Category,Group of disorders,,,,,C5680346,,,,Autosomal recessive isolated diffuse palmoplantar keratoderma,,Autosomal recessive
98357,Autosomal recessive disease with focal palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5680347,,,,Autosomal recessive disease with focal palmoplantar keratoderma as a major feature,,Autosomal recessive
98343,Male infertility due to obstructive azoospermia,Category,Group of disorders,,,,,C5680348,,,,,,
98345,OBSOLETE: Rare idiopathic male infertility,Disease,Disorder,,,,,,,,,,,
580572,Intraductal tubulopapillary neoplasm of pancreas,Disease,Disorder,2C10.Y,0034987,C25.3,,C2987189,,,,Intraductal tubulopapillary neoplasm of pancreas,"Adult, Elderly",
98349,Autosomal dominant isolated diffuse palmoplantar keratoderma,Category,Group of disorders,,,,,C5680349,,,,Autosomal dominant isolated diffuse palmoplantar keratoderma,,Autosomal dominant
98306,Familial partial lipodystrophy,Clinical group,Group of disorders,,0020088,,,C0271694,D052496,10087377,11962,Familial partial lipodystrophy,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Autosomal recessive"
98305,Genetic lipodystrophy,Category,Group of disorders,LD27.6,,,,C4511302,,,,,,
98310,OBSOLETE: Male infertility with impaired virilization due to an hypothalamic or pituitary disorder,Category,Group of disorders,,,,,,,,,,,
98309,OBSOLETE: Male infertility with impaired virilization,Category,Group of disorders,,,,,,,,,,,
98307,Acquired lipodystrophy,Category,Group of disorders,,0020089,,,C0877192,,10049287,,,,
98298,OBSOLETE: Ichthyosis associated with a peroxisomal disease,Category,Group of disorders,,,,,,,,,,,
98297,OBSOLETE: Ichthyosis associated with a protein catabolism anomaly,Category,Group of disorders,,,,,,,,,,,
98296,OBSOLETE: Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly,Category,Group of disorders,,,,,,,,,,,
98301,Laminopathy,Category,Group of disorders,,0021106,,,C5392094,D000083083,,,,,
98300,Idiopathic interstitial pneumonia,Clinical group,Group of disorders,,0002429,,,C2350236,D054988,,,,,
98299,OBSOLETE: Ichthyosis associated with a nucleotide excision repair anomaly,Category,Group of disorders,,,,,,,,,,,
98321,OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease,Category,Group of disorders,,,,,,,,,,,
98322,OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with renal failure,Category,Group of disorders,,,,,,,,,,,
98319,OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with autoimmunity,Category,Group of disorders,,,,,,,,,,,
98320,OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with a granulomatous disease,Category,Group of disorders,,,,,,,,,,,
98325,OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with thyrotoxicosis,Category,Group of disorders,,,,,,,,,,,
98326,OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with an immune disorder,Category,Group of disorders,,,,,,,,,,,
98323,OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a hepatic disease,Category,Group of disorders,,,,,,,,,,,
98324,OBSOLETE: Male infertility with impaired virilization due to a testicular disorder associated with a chronic illness,Category,Group of disorders,,,,,,,,,,,
98313,Male infertility due to gonadal dysgenesis,Category,Group of disorders,,,,,C5680350,,,,,,
98314,OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect,Category,Group of disorders,,,,,,,,,,,
98311,OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia,Category,Group of disorders,,,,,,,,,,,
98312,OBSOLETE: Male infertility with impaired virilization due to a testicular disorder,Category,Group of disorders,,,,,,,,,,,
98317,OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect drug-related,Category,Group of disorders,,,,,,,,,,,
98318,OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with an environmental toxin,Category,Group of disorders,,,,,,,,,,,
98315,OBSOLETE: Male infertility with impaired virilization due to a viral orchitis,Category,Group of disorders,,,,,,,,,,,
98316,OBSOLETE: Male infertility with impaired virilization due to an acquired testicular defect associated with trauma,Category,Group of disorders,,,,,,,,,,,
576232,Partial atrioventricular septal defect with ventricular hypoplasia,Clinical subtype,Subtype of disorder,,,Q21.2,,C5680351,,,,Partial atrioventricular septal defect with ventricular hypoplasia,,Not applicable
576235,Partial atrioventricular septal defect without ventricular hypoplasia,Clinical subtype,Subtype of disorder,,,Q21.2,,C5680352,,,,Partial atrioventricular septal defect without ventricular hypoplasia,,Not applicable
576227,Complete atrioventricular septal defect without ventricular hypoplasia,Clinical subtype,Subtype of disorder,,,Q21.2,,C5680353,,,,,,
98396,Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder,Category,Group of disorders,,,,,C5681709,,,,,,
576074,Middle East respiratory syndrome,Disease,Disorder,1D64,0100116,B34.2,,C3694279,D065207,10075271,,Middle East respiratory syndrome,All ages,
575553,Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,Disease,Disorder,,0035551,I67.8,621394,C5680354,,,,Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,Adult,Autosomal dominant
98421,Primary acquired red cell aplasia,Clinical group,Group of disorders,,0020113,,,C0034902,,10038184,,,,
576742,Genetic hemolytic uremic syndrome,Category,Group of disorders,,,,,C5680355,,,,,,
98415,Vitamin B12- and folate-independent constitutional megaloblastic anemia,Category,Group of disorders,3A03.Y,0020112,,,C5681710,,,,,,
576379,Iatrogenic Creutzfeldt-Jakob disease,Disease,Disorder,8E01.0,0034976,A81.0,,C2349757,,,,Iatrogenic Creutzfeldt-Jakob disease,Adult,
576356,Sporadic human prion disease,Category,Group of disorders,,,,,C5680356,,,,,,
576349,NLRC4-related familial cold autoinflammatory syndrome,Disease,Disorder,4A60.1,0014498,D89.8,616115,C4015276,,,,NLRC4-related familial cold autoinflammatory syndrome,"Childhood, Infancy",Autosomal dominant
576370,Variant Creutzfeldt-Jakob disease,Disease,Disorder,8E01.2,0007012,A81.0,,C0376329,,10064199,9550,Variant Creutzfeldt-Jakob disease,Adult,
576360,Acquired human prion disease,Category,Group of disorders,,0035562,,,C5680357,,,,,,
576242,Intermediate atrioventricular septal defect,Morphological anomaly,Disorder,LA87.42,0035557,Q21.2,,C4023291,,,,,,
98408,Constitutional megaloblastic anemia due to folate metabolism disorder,Category,Group of disorders,,,,,C5681711,,,,,,
576283,SATB2-associated syndrome due to a pathogenic variant,Etiological subtype,Subtype of disorder,,,Q87.8,612313,C5680358,,,,SATB2-associated syndrome due to a pathogenic variant,"Antenatal, Infancy, Neonatal",Autosomal dominant
576278,SATB2-associated syndrome,Malformation syndrome,Disorder,,0100147,Q87.8,612313,C5243581,,10083270,,SATB2-associated syndrome,"Infancy, Neonatal",Autosomal dominant
573163,Pheochromocytoma-paraganglioma,Clinical group,Group of disorders,,0035540,,,C5681712,,,,,,
98374,Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder,Category,Group of disorders,3A10.Y,,D55.3,,C5680359,,,,,,
573253,Split cord malformation type II,Morphological anomaly,Disorder,LA07.1,0035541,Q06.2,,C5680360,,,,Split cord malformation type II,"Adolescent, Adult, Childhood, Infancy",
98372,Hemolytic anemia due to a disorder of glycolytic enzymes,Category,Group of disorders,3A10.Y,,D55.2,,C5681713,,,,,,
98370,Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies,Category,Group of disorders,3A10.0,,,,C5681714,,,,,,
98369,Rare constitutional hemolytic anemia due to an enzyme disorder,Category,Group of disorders,,,,,C5681715,,,,,,
98366,Constitutional hemolytic anemia due to acanthocytosis,Category,Group of disorders,3A10.Y,,,,C0687751,,,,,,
98365,Hereditary stomatocytosis,Clinical group,Group of disorders,3A10.Y,0020102,,,C1262483,,10053589,,,,
98364,Rare constitutional hemolytic anemia due to a red cell membrane anomaly,Category,Group of disorders,,,,,C5681716,,,,,,
98363,Rare hemolytic anemia,Category,Group of disorders,,,,,C5681717,,,,,,
98362,Constitutional sideroblastic anemia,Category,Group of disorders,3A72.0,,D64.0,,C0221018,,,,,,
98360,Constitutional anemia due to iron metabolism disorder,Category,Group of disorders,,,,,C5681718,,,,,,
574957,Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,Disease,Disorder,4A00.2,0035548,D84.8,,C5680361,,,,Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,All ages,Autosomal recessive
574918,Predisposition to severe viral infection due to IRF7 deficiency,Disease,Disorder,,0035547,D84.8,616345,C4225358,,,,Predisposition to severe viral infection due to IRF7 deficiency,All ages,Autosomal recessive
98375,Autoimmune hemolytic anemia,Clinical group,Group of disorders,3A20,0020108,,,C0002880,D000744,10002046,5870,Autoimmune hemolytic anemia,All ages,Multigenic/multifactorial
573278,Split cord malformation,Clinical group,Group of disorders,,,Q06.2,,,,,,Split cord malformation,"Adolescent, Adult, Childhood, Infancy",
98455,Alpha granule disease,Category,Group of disorders,3B62.00,0020117,,,C5681720,,,,,,
98456,Dense granule disease,Category,Group of disorders,3B62.3,,,,C5680362,,,,,,
98464,OBSOLETE: X-linked syndromic intellectual disability,Category,Group of disorders,,,,,,,,,,,
98468,OBSOLETE: Congenital muscular dystrophy due to extracellular matrix protein anomaly,Category,Group of disorders,,,,,,,,,,,
98469,OBSOLETE: Congenital muscular dystrophy due to glycosyltransferase anomaly,Category,Group of disorders,,,,,,,,,,,
98470,OBSOLETE: Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly,Category,Group of disorders,,,,,,,,,,,
98472,Skeletal muscle disease,Category,Group of disorders,,0020120,,,,D009135,10028641,,,,
98473,Muscular dystrophy,Category,Group of disorders,8C70,0020121,G71.0,,C0026850,D009136,10028356,7922,,,
98482,Idiopathic inflammatory myopathy,Category,Group of disorders,4A41,,,,C0751356,,10085970,9128,,,
98486,Metabolic myopathy,Category,Group of disorders,,0020123,,,C0270984,,10068836,,,,
572385,Brachydactyly type B1,Clinical subtype,Subtype of disorder,LD26.1,0007220,Q73.8,113000,C1862112,C566196,,,Brachydactyly type B1,Antenatal,Autosomal dominant
572361,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,Clinical subtype,Subtype of disorder,LD21.Y,0035525,Q10.3,110100,C5680363,,,,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,Antenatal,Autosomal dominant
98429,Rare coagulation disorder,Category,Group of disorders,,,,,C5681721,,,,,,
98427,Polycythemia,Clinical group,Group of disorders,,0005571,,,C0032461,D011086,10036051,,,,
98428,Secondary polycythemia,Category,Group of disorders,,0020115,D75.1,,C5848252,,10036062,,Secondary polycythemia,All ages,"Autosomal dominant, Autosomal recessive"
572428,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,Disease,Disorder,CB04.31,0035529,J84.0,618042,C5680364,,,,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,Infancy,Autosomal dominant
98434,Hereditary combined deficiency of vitamin K-dependent clotting factors,Disease,Disorder,3B14.2,0015722,D68.2,607473,C4510617,,,,Hereditary combined deficiency of vitamin K-dependent clotting factors,"Adolescent, Adult, Infancy, Neonatal",Autosomal recessive
98435,OBSOLETE: Protease inhibitor anomaly,Category,Group of disorders,,,,,,,,,,,
572543,RFVT2-related riboflavin transporter deficiency,Clinical subtype,Subtype of disorder,LD2H.Y,0024537,G12.1,614707,C0796274,,,,RFVT2-related riboflavin transporter deficiency,"Childhood, Infancy",Autosomal recessive
572550,RFVT3-related riboflavin transporter deficiency,Clinical subtype,Subtype of disorder,LD2H.Y,0013867,G12.1,211530,C3553538,,,,RFVT3-related riboflavin transporter deficiency,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
572773,Microcephaly-short stature-limb abnormalities syndrome,Clinical subtype,Subtype of disorder,,0060533,Q87.1,617604,C3811554,,,,Microcephaly-short stature-limb abnormalities syndrome,Antenatal,Autosomal recessive
98454,OBSOLETE: Platelet storage pool disease,Category,Group of disorders,,,,,,,,,,,
572798,WARS2-related combined oxidative phosphorylation defect,Disease,Disorder,5C53.2Y,0060578,E88.8,617710,C4540192,,,,WARS2-related combined oxidative phosphorylation defect,"Infancy, Neonatal",Autosomal recessive
572761,DONSON-related microcephaly-short stature-limb abnormalities spectrum,Malformation syndrome,Disorder,,0035534,Q87.1,617604,C5681722,,,,DONSON-related microcephaly-short stature-limb abnormalities spectrum,"Antenatal, Neonatal",Autosomal recessive
572768,Microcephaly-micromelia syndrome,Clinical subtype,Subtype of disorder,,0009619,Q87.1,251230,C1855079,C565382,,,Microcephaly-micromelia syndrome,Antenatal,Autosomal recessive
98523,Non-syndromic pontocerebellar hypoplasia,Clinical group,Group of disorders,LD20.01,0020135,,,C1261175,,,10977,Non-syndromic pontocerebellar hypoplasia,"Antenatal, Infancy, Neonatal",Autosomal recessive
98519,Posterior fossa malformation,Category,Group of disorders,,,,,C1850349,,,,,,
98520,OBSOLETE: Cystic malformation of the posterior fossa,Category,Group of disorders,,,,,,,,,,,
98531,OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDa,Category,Group of disorders,,,,,,,,,,,
98532,OBSOLETE: Tauopathy with a major tau at 60 kDa,Category,Group of disorders,,,,,,,,,,,
98534,Neurodegenerative disease with dementia,Category,Group of disorders,,,,,C5681723,,,,,,
98527,OBSOLETE: Tauopathy,Category,Group of disorders,,,,,,,,,,,
98528,OBSOLETE: Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration,Category,Group of disorders,,,,,,,,,,,
98529,"OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDa",Category,Group of disorders,,,,,,,,,,,
98530,OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDa,Category,Group of disorders,,,,,,,,,,,
98540,Late-onset ataxia with dementia,Category,Group of disorders,,,,,C5681724,,,,,,
98539,Early-onset ataxia with dementia,Category,Group of disorders,,,,,C5681725,,,,,,
572013,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,Malformation syndrome,Disorder,,0032677,Q04.8,618325,C5780029,,,,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,Infancy,Autosomal dominant
98542,Infectious disease with dementia,Category,Group of disorders,,,,,C5681726,,,,,,
98535,Frontotemporal degeneration with dementia,Clinical group,Group of disorders,,,,,C5681727,,,,,,
98538,Ataxia with dementia,Category,Group of disorders,,,,,C5681728,,,,,,
572333,Blepharophimosis-ptosis-epicanthus inversus syndrome plus,Malformation syndrome,Disorder,LD44.30,0035521,Q10.3,,C5437588,,,,Blepharophimosis-ptosis-epicanthus inversus syndrome plus,Antenatal,
572354,Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,Clinical subtype,Subtype of disorder,LD21.Y,0035524,Q10.3,110100,C5680365,,,,Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,Antenatal,Autosomal recessive
98549,Rare cerebrovascular dementia,Category,Group of disorders,,,,,C5681729,,,,,,
98544,Cerebral lipidosis with dementia,Category,Group of disorders,,0020143,,,C5681730,,,,,,
98543,Metabolic disease with dementia,Category,Group of disorders,,,,,C5681731,,,,,,
570762,Infective endocarditis,Disease,Disorder,BB40,0000565,I33.0,,C1541923,,10014678,6337,Infective endocarditis,All ages,
98494,Acquired neuromuscular junction disease,Category,Group of disorders,,,,,C5681732,,,,,,
570491,QRSL1-related combined oxidative phosphorylation defect,Disease,Disorder,5C53.23,0030006,E88.8,618835,C5394232,,,,QRSL1-related combined oxidative phosphorylation defect,"Antenatal, Infancy, Neonatal",Autosomal recessive
98491,Neuromuscular junction disease,Category,Group of disorders,,0020124,,,C0751950,D020511,,,,,
570470,Ricin poisoning,Disease,Disorder,NE61,0035511,T62.2,,C1443942,,,,Ricin poisoning,All ages,Not applicable
570438,HHV-8-associated multicentric Castleman disease,Clinical subtype,Subtype of disorder,2A81.Y,0019754,D47.7,,C5197664,,,22310,HHV-8-associated multicentric Castleman disease,All ages,
570431,Idiopathic multicentric Castleman disease,Clinical subtype,Subtype of disorder,4B2Y,0035838,D47.7,,C5197665,,,,Idiopathic multicentric Castleman disease,All ages,
570422,Galactose mutarotase deficiency,Disease,Disorder,5C51.4Y,30105,E88.8,618881,C5394377,,,,Galactose mutarotase deficiency,"Infancy, Neonatal",Autosomal recessive
570371,Bartter syndrome type 5,Clinical subtype,Subtype of disorder,GB90.43,0010503,E26.8,300971,C5680366,,,,Bartter syndrome type 5,Antenatal,X-linked recessive
98497,Genetic peripheral neuropathy,Category,Group of disorders,,,,,C5681733,,,,,,
98495,Genetic neuromuscular junction disease,Category,Group of disorders,,,,,C5681843,,,,,,
98496,Rare peripheral neuropathy,Category,Group of disorders,,,,,C5681734,,,,,,
98506,Acquired motor neuron disease,Category,Group of disorders,,0020129,,,C5680367,,,,,,
98505,Genetic motor neuron disease,Category,Group of disorders,,,,,C5680368,,,,,,
98503,Motor neuron disease,Category,Group of disorders,8B60,0020128,G12.2,,C0085084,D016472,10028003,,,,
98518,Cranial nerve and nuclear aplasia,Category,Group of disorders,,,,,C5681735,,,,,,
98516,Malformation of the cerebellar hemispheres,Category,Group of disorders,,,,,C5681736,,,,,,
98514,Malformation of the cerebellar vermis,Category,Group of disorders,,,,,C5681737,,,,,,
708684,Eosinophilic cystitis,Disease,Disorder,,,,,,,,,Eosinophilic cystitis,All ages,
708881,Phenylalanine hydroxylase deficiency,Clinical group,Group of disorders,,,,261600,,,,,,,
708895,Tetrahydrobiopterin-unresponsive phenylketonuria,Clinical subtype,Subtype of disorder,,,,261600,,,,,Tetrahydrobiopterin-unresponsive phenylketonuria,,Autosomal recessive
708203,Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome,Malformation syndrome,Disorder,,,,301044,,,,,Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome,,X-linked dominant
708651,Phosphoribosylformylglycinamidine synthase deficiency,Disease,Disorder,,,,,,,,,,,
708208,Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome,Malformation syndrome,Disorder,,,,618603,,,,,Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome,,Autosomal dominant
714154,Idiopathic multifocal choroiditis,Disease,Disorder,,,,,,,,,,,
714150,Stellate non-hereditary idiopathic foveomacular retinoschisis,Disease,Disorder,,,,,,,,,,,
714138,Circumscribed choroidal hemangioma,Disease,Disorder,,,,,,,,,,,
714385,Global developmental delay-high pain tolerance-intellectual disability syndrome,Disease,Disorder,,,,615828,,,,,Global developmental delay-high pain tolerance-intellectual disability syndrome,,Autosomal dominant
714164,Acute posterior multifocal placoid pigment epitheliopathy,Disease,Disorder,,,,,,,,,,,
714160,Presumed ocular histoplasmosis syndrome,Disease,Disorder,,,,,,,,,Presumed ocular histoplasmosis syndrome,,Not applicable
714079,"Complete congenital stationary night blindness, Schubert-Bornschein type",Clinical subtype,Subtype of disorder,,,,257270,,,,,,,
714070,"Incomplete congenital stationary night blindness, Schubert-Bornschein type",Clinical subtype,Subtype of disorder,,,,300071,,,,,"Incomplete congenital stationary night blindness, Schubert-Bornschein type",,"Autosomal recessive, X-linked recessive"
714046,Primary choroidal lymphoma,Disease,Disorder,,,,,,,,,Primary choroidal lymphoma,,Not applicable
714041,Straatsma syndrome,Disease,Disorder,,,,,,,,,,,
714109,Ocular siderosis,Disease,Disorder,,,,,,,,,,,
714101,Acute idiopathic maculopathy,Disease,Disorder,,,,,,,,,Acute idiopathic maculopathy,,Not applicable
714096,"Congenital stationary night blindness, Riggs type",Disease,Disorder,,,,610444,,,,,"Congenital stationary night blindness, Riggs type",,"Autosomal dominant, Autosomal recessive"
714090,"Congenital stationary night blindness, Schubert-Bornschein type",Disease,Disorder,,,,300071,,,,,"Congenital stationary night blindness, Schubert-Bornschein type",,"Autosomal recessive, X-linked recessive"
714484,AGR2-related infantile-onset inflammatory bowel disease,Disease,Disorder,,,,620233,,,,,AGR2-related infantile-onset inflammatory bowel disease,,Autosomal recessive
714487,Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome,Disease,Disorder,,,,618168,,,,,Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome,,Autosomal recessive
714477,Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome,Disease,Disorder,,,,,,,,,Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome,,Autosomal recessive
714481,SCGN-related severe early-onset hereditary ulcerative colitis,Disease,Disorder,,,,,,,,,SCGN-related severe early-onset hereditary ulcerative colitis,,Autosomal recessive
714496,Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome,Disease,Disorder,,,,617718,,,,,Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome,,Autosomal recessive
714652,PCDH19 clustering epilepsy,Disease,Disorder,,,,300088,,,,,PCDH19 clustering epilepsy,,X-linked dominant
714490,PERCC1-related congenital intractable malabsorptive diarrhea,Disease,Disorder,,,,618662,,,,,PERCC1-related congenital intractable malabsorptive diarrhea,,Autosomal recessive
714493,Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency,Disease,Disorder,,,,614493,,,,,Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency,,Autosomal recessive
714407,Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation,Etiological subtype,Subtype of disorder,,,,618286,,,,,Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation,,Autosomal dominant
714410,CARD8-related inflammatory bowel disease,Disease,Disorder,,,,619079,,,,,CARD8-related inflammatory bowel disease,,Autosomal dominant
714399,Global developmental delay-dental enamel defects-ataxia syndrome,Malformation syndrome,Disorder,,,,617915,,,,,Global developmental delay-dental enamel defects-ataxia syndrome,,Autosomal dominant
714404,Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome,Malformation syndrome,Disorder,,,,618286,,,,,Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome,,Autosomal dominant
714429,Pseudo-TORCH syndrome type 3,Disease,Disorder,,,,,,,,,,,
714472,Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome,Disease,Disorder,,,,618394,,,,,Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome,,Autosomal dominant
714413,9p23p22.2 microdeletion syndrome,Etiological subtype,Subtype of disorder,,,,,,,,,,,
714423,Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome,Disease,Disorder,,,,,,,,,Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome,,Autosomal dominant
715120,Hyperpituitarism,Category,Group of disorders,,,,,,,,,,,
715025,Spinal fast-flow vascular malformation,Clinical group,Group of disorders,,,,,,,,,,,
715128,Hemoglobin E-beta-thalassemia major,Clinical subtype,Subtype of disorder,,,,,,,,,Hemoglobin E-beta-thalassemia major,,Autosomal recessive
715125,Hemoglobin E-beta-thalassemia intermedia,Clinical subtype,Subtype of disorder,,,,,,,,,Hemoglobin E-beta-thalassemia intermedia,,Autosomal recessive
714785,Unifocal sporadic venous malformation,Morphological anomaly,Disorder,,,,,,,,,,,
714829,Immune checkpoint inhibitor-induced myositis,Disease,Disorder,,,,,,,,,,,
714806,Multifocal sporadic venous malformation,Morphological anomaly,Disorder,,,,,,,,,Multifocal sporadic venous malformation,,Not applicable
714726,Retroperitoneal arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,,Retroperitoneal arteriovenous malformation,,Not applicable
714715,Pelvic arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,,Pelvic arteriovenous malformation,,Not applicable
714737,Diffuse capillary malformation with overgrowth,Morphological anomaly,Disorder,,,,,,,,,Diffuse capillary malformation with overgrowth,,Not applicable
714734,Sinus pericranii,Morphological anomaly,Disorder,,,,,,,,,,,
714698,Arteriovenous malformation of the thoraco-abdominal-pelvic cavity,Clinical group,Group of disorders,,,,,,,,,,,
714692,Congenital disseminated pyogenic granuloma,Disease,Disorder,,,,,,,,,,,
714709,Mediastinal arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,,Mediastinal arteriovenous malformation,,Not applicable
714702,Abdominal arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,,,,
715326,Spinal epidural arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,,Spinal epidural arteriovenous malformation,,Unknown
715331,Paraspinal arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,,Paraspinal arteriovenous malformation,,Not applicable
715334,Unifocal peripheral venous malformation,Clinical group,Group of disorders,,,,,,,,,,,
715339,Multifocal peripheral venous malformation,Clinical group,Group of disorders,,,,,,,,,,,
715292,Brain pial arteriovenous fistula,Disease,Disorder,,,,,,,,,,,
715302,Spinal pial arteriovenous fistula,Disease,Disorder,,,,,,,,,Spinal pial arteriovenous fistula,,Not applicable
715307,Acquired spinal dural arteriovenous fistula,Morphological anomaly,Disorder,,,,,,,,,,,
715318,Acquired intracranial dural arteriovenous fistula,Disease,Disorder,,,,,,,,,Acquired intracranial dural arteriovenous fistula,,Not applicable
715154,Low oxygen affinity alpha chain hemoglobin disease,Etiological subtype,Subtype of disorder,,,,,,,,,Low oxygen affinity alpha chain hemoglobin disease,,Autosomal dominant
715157,Low oxygen affinity beta chain hemoglobin disease,Etiological subtype,Subtype of disorder,,,,,,,,,Low oxygen affinity beta chain hemoglobin disease,,Autosomal dominant
715284,Spinal cord arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,,Spinal cord arteriovenous malformation,,Not applicable
715135,Hemoglobin Lepore-beta-thalassemia intermedia,Clinical subtype,Subtype of disorder,,,,,,,,,Hemoglobin Lepore-beta-thalassemia intermedia,,Autosomal recessive
715140,Hemoglobin Lepore-beta-thalassemia major,Clinical subtype,Subtype of disorder,,,,,,,,,Hemoglobin Lepore-beta-thalassemia major,,Autosomal recessive
715143,Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene,Disease,Disorder,,,,,,,,,Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene,,Autosomal recessive
715147,Low oxygen affinity hemoglobin disease,Disease,Disorder,,,,,,,,,Low oxygen affinity hemoglobin disease,,Autosomal dominant
715701,Infant-type hemispheric glioma ROS1-altered,Etiological subtype,Subtype of disorder,,,,,,,,,,,
715697,Infant-type hemispheric glioma ALK-altered,Etiological subtype,Subtype of disorder,,,,,,,,,,,
715694,Infant-type hemispheric glioma NTRK-altered,Etiological subtype,Subtype of disorder,,,,,,,,,,,
715640,Rothmund-Thomson syndrome type 3,Clinical subtype,Subtype of disorder,,,,615789,,,,,Rothmund-Thomson syndrome type 3,,Autosomal recessive
715635,Rothmund-Thomson syndrome type 4,Clinical subtype,Subtype of disorder,,,,620819,,,,,Rothmund-Thomson syndrome type 4,,Autosomal recessive
715623,Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome,Disease,Disorder,,,,621010,,,,,Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome,,Autosomal recessive
715466,Syndromic low resistance capillary malformation,Clinical group,Group of disorders,,,,,,,,,,,
715463,Low resistance capillary malformation,Clinical group,Group of disorders,,,,,,,,,,,
715460,Syndromic geographic pattern capillary malformation,Clinical group,Group of disorders,,,,,,,,,,,
715453,Reticulated capillary malformation,Clinical group,Group of disorders,,,,,,,,,,,
715446,Geographic pattern capillary malformation,Clinical group,Group of disorders,,,,,,,,,,,
715359,Isolated low resistance capillary malformation,Morphological anomaly,Disorder,,,,,,,,,,,
715353,Isolated reticulated capillary malformation,Morphological anomaly,Disorder,,,,,,,,,,,
715345,Isolated geographic pattern capillary malformation,Morphological anomaly,Disorder,,,,,,,,,Isolated geographic pattern capillary malformation,,Not applicable
715923,Intraosseous venous malformation,Morphological anomaly,Disorder,,,,,,,,,,,
715950,Diffuse hemispheric glioma-H3 G34-mutant,Disease,Disorder,,,,,,,,,,,
715855,Acute exudative polymorphous vitelliform maculopathy,Disease,Disorder,,,,,,,,,,,
715862,Melanocytoma of the optic disc and optic nerve,Disease,Disorder,,,,,,,,,,,
715845,Idiopathic Acute exudative polymorphous vitelliform maculopathy,Clinical subtype,Subtype of disorder,,,,,,,,,,,
715850,Paraneoplastic acute exudative polymorphous vitelliform maculopathy,Clinical subtype,Subtype of disorder,,,,,,,,,,,
715757,Metameric fast-flow vascular malformation,Clinical group,Group of disorders,,,,,,,,,,,
715762,Unifocal fast-flow vascular malformation,Clinical group,Group of disorders,,,,,,,,,,,
715744,Fast-flow vascular malformation of the central nervous system,Clinical group,Group of disorders,,,,,,,,,,,
715750,Intracranial fast-flow vascular malformation,Clinical group,Group of disorders,,,,,,,,,,,
715721,High-grade astrocytoma with piloid features,Disease,Disorder,,,,,,,,,,,
715724,Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype,Disease,Disorder,,,,,,,,,,,
715704,Infant-type hemispheric glioma MET-altered,Etiological subtype,Subtype of disorder,,,,,,,,,,,
716109,Global developmental delay-facial dysmorphism-brachydactyly syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
716116,Global developmental delay-facial dysmorphism-hands and feet anomalies syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
716195,Rare inflammatory choroidal disorder,Category,Group of disorders,,,,,,,,,,,
716198,Rare paraneoplastic choroidal disorder,Category,Group of disorders,,,,,,,,,,,
716201,Rare vascular choroidal disorder,Category,Group of disorders,,,,,,,,,,,
716204,Rare neoplastic choroidal disorder,Category,Group of disorders,,,,,,,,,,,
716207,Rare benign neoplastic choroidal disorder,Category,Group of disorders,,,,,,,,,,,
716210,Rare malignant neoplastic choroidal disorder,Category,Group of disorders,,,,,,,,,,,
716213,Rare isolated developmental choroidal disorder,Category,Group of disorders,,,,,,,,,,,
716290,Rare predominantly chorioretinal disorder,Category,Group of disorders,,,,,,,,,,,
716293,Rare non-progressive predominantly chorioretinal disorder,Category,Group of disorders,,,,,,,,,,,
716296,Rare isolated non-progressive predominantly chorioretinal disorder,Category,Group of disorders,,,,,,,,,,,
716299,Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature,Category,Group of disorders,,,,,,,,,,,
716304,Rare progressive predominantly chorioretinal disorder,Category,Group of disorders,,,,,,,,,,,
716342,Rare disorder with progressive predominantly chorioretinal disorder as a major feature,Category,Group of disorders,,,,,,,,,,,
716348,Rare isolated progressive predominantly chorioretinal disorder,Category,Group of disorders,,,,,,,,,,,
716361,Rare progressive generalized retinal disorder,Category,Group of disorders,,,,,,,,,,,
716358,Rare generalized retinal disorder,Category,Group of disorders,,,,,,,,,,,
716367,Rare isolated non-progressive generalized retinal disorder,Category,Group of disorders,,,,,,,,,,,
716364,Rare non-progressive generalized retinal disorder,Category,Group of disorders,,,,,,,,,,,
716393,Rare disorder with non-progressive generalized retinal disorder as a major feature,Category,Group of disorders,,,,,,,,,,,
716410,Rare isolated progressive generalized retinal disorder,Category,Group of disorders,,,,,,,,,,,
716405,Rare disorder with progressive generalized retinal disorder as a major feature,Category,Group of disorders,,,,,,,,,,,
716416,Rare progressive predominantly macular disorder,Category,Group of disorders,,,,,,,,,,,
716413,Rare non-progressive predominantly macular disorder,Category,Group of disorders,,,,,,,,,,,
716422,Rare disorder with non-progressive predominantly macular disorder as a major feature,Category,Group of disorders,,,,,,,,,,,
716419,Rare isolated non-progressive predominantly macular disorder,Category,Group of disorders,,,,,,,,,,,
716432,Rare isolated progressive predominantly macular disorder,Category,Group of disorders,,,,,,,,,,,
716427,Rare disorder with progressive predominantly macular disorder as a major feature,Category,Group of disorders,,,,,,,,,,,
716438,Rare progressive vitreoretinopathy,Category,Group of disorders,,,,,,,,,,,
716435,Rare non-progressive vitreoretinopathy,Category,Group of disorders,,,,,,,,,,,
716450,Rare non-progressive retinal vasculopathy,Category,Group of disorders,,,,,,,,,,,
716455,Rare progressive retinal vasculopathy,Category,Group of disorders,,,,,,,,,,,
716441,Rare isolated progressive vitreoretinopathy,Category,Group of disorders,,,,,,,,,,,
716446,Rare disorder with progressive vitreoretinopathy disorder as a major feature,Category,Group of disorders,,,,,,,,,,,
716742,Congenital myasthenic syndrome with kinetic defect,Etiological subtype,Subtype of disorder,,,,,,,,,Congenital myasthenic syndrome with kinetic defect,,"Autosomal dominant, Autosomal recessive"
716459,Rare disorder with progressive retinal vasculopathy as a major feature,Category,Group of disorders,,,,,,,,,,,
716466,Rare isolated progressive retinal vasculopathy,Category,Group of disorders,,,,,,,,,,,
716772,Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance,Etiological subtype,Subtype of disorder,,,,,,,,,Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance,,Autosomal recessive
716758,Fast-channel congenital myasthenic syndrome,Etiological subtype,Subtype of disorder,,,,,,,,,Fast-channel congenital myasthenic syndrome,,"Autosomal dominant, Autosomal recessive"
716765,Slow-channel congenital myasthenic syndrome,Etiological subtype,Subtype of disorder,,,,,,,,,Slow-channel congenital myasthenic syndrome,,"Autosomal dominant, Autosomal recessive"
716825,Congenital myasthenic syndrome due to defects in endplate development and maintenance,Etiological subtype,Subtype of disorder,,,,,,,,,,,
716816,Congenital myasthenic syndrome with primary acetylcholine receptor deficiency,Etiological subtype,Subtype of disorder,,,,,,,,,,,
716899,Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis,Etiological subtype,Subtype of disorder,,,,,,,,,Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis,,"Autosomal dominant, Autosomal recessive"
716893,Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine,Etiological subtype,Subtype of disorder,,,,,,,,,Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine,,Autosomal recessive
716889,Congenital myasthenic syndromes due to defective axonal transport,Etiological subtype,Subtype of disorder,,,,,,,,,Congenital myasthenic syndromes due to defective axonal transport,,Autosomal recessive
716881,Congenital myasthenic syndrome due to a sodium channel 1.4 defect,Etiological subtype,Subtype of disorder,,,,,,,,,Congenital myasthenic syndrome due to a sodium channel 1.4 defect,,Autosomal recessive
716917,Congenital myasthenic syndrome with mitochondrial defect,Etiological subtype,Subtype of disorder,,,,,,,,,,,
716913,Ubiquitously expressed proteins associated congenital myasthenic syndrome,Etiological subtype,Subtype of disorder,,,,,,,,,,,
716908,Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis,Etiological subtype,Subtype of disorder,,,,,,,,,Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis,,Autosomal dominant
716903,Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis,Etiological subtype,Subtype of disorder,,,,,,,,,Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis,,Autosomal recessive
717260,Rare genetic generalized retinal disorder,Category,Group of disorders,,,,,,,,,,,
717257,Rare genetic predominantly chorioretinal disorder,Category,Group of disorders,,,,,,,,,,,
717317,Rare genetic isolated progressive predominantly chorioretinal disorder,Category,Group of disorders,,,,,,,,,,,
717321,Rare genetic progressive generalized retinal disorder,Category,Group of disorders,,,,,,,,,,,
717324,Rare genetic isolated progressive generalized retinal disorder,Category,Group of disorders,,,,,,,,,,,
717327,Rare genetic non-progressive predominantly macular disorder,Category,Group of disorders,,,,,,,,,,,
717268,Circumscribed astrocytic glioma,Category,Group of disorders,,,,,,,,,,,
717308,Rare genetic non-progressive predominantly chorioretinal disorder,Category,Group of disorders,,,,,,,,,,,
717311,Rare genetic isolated non-progressive predominantly chorioretinal disorder,Category,Group of disorders,,,,,,,,,,,
717314,Rare genetic progressive predominantly chorioretinal disorder,Category,Group of disorders,,,,,,,,,,,
717342,Rare genetic progressive retinal vasculopathy,Category,Group of disorders,,,,,,,,,,,
717345,Rare genetic isolated progressive retinal vasculopathy,Category,Group of disorders,,,,,,,,,,,
717348,Rare genetic disorder with progressive vasculopathy disorder as a major feature,Category,Group of disorders,,,,,,,,,,,
717564,Dural sinus malformation without arteriovenous shunt,Malformation syndrome,Disorder,,,,,,,,,,,
717330,Rare genetic isolated non-progressive predominantly macular disorder,Category,Group of disorders,,,,,,,,,,,
717333,Rare genetic progressive predominantly macular disorder,Category,Group of disorders,,,,,,,,,,,
717336,Rare genetic isolated progressive predominantly macular disorder,Category,Group of disorders,,,,,,,,,,,
717339,Rare genetic non-progressive retinal vasculopathy,Category,Group of disorders,,,,,,,,,,,
717605,Capillary-lymphatic malformation,Morphological anomaly,Disorder,,,,,,,,,,,
717598,Lymphatic-venous malformation,Malformation syndrome,Disorder,,,,,,,,,,,
717619,Capillary-lymphatic-venous malformation,Morphological anomaly,Disorder,,,,,,,,,,,
717611,Capillary-venous malformation,Morphological anomaly,Disorder,,,,,,,,,,,
717585,Kasabach-Merritt-like phenomenon,Particular clinical situation in a disease or syndrome,Disorder,,,,,,,,,,,
717582,Coagulation abnormality associated with a vascular anomaly,Clinical group,Group of disorders,,,,,,,,,,,
717593,Disseminated intravascular coagulation associated with a vascular anomaly,Particular clinical situation in a disease or syndrome,Disorder,,,,,,,,,,,
717588,Localized intravascular coagulation,Particular clinical situation in a disease or syndrome,Disorder,,,,,,,,,,,
717812,12q24.31 microdeletion syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
717795,Developmental delay-spastic diplegia-choreoathetosis-intellectual disability syndrome,Disease,Disorder,,,,,,,,,,,
717830,2p14p15 microdeletion syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
717823,Global developmental delay-recurrent infections-facial dysmorphism syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
717646,Congenital midnasal stenosis,Morphological anomaly,Disorder,,,,,,,,,,,
717638,Aquagenic urticaria,Disease,Disorder,,,,,,,,,,,
717784,Partial trisomy 12q syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
717757,Rare immune disease with inflammatory bowel disease,Category,Group of disorders,,,,,,,,,,,
717865,Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease,Category,Group of disorders,,,,,,,,,,,
717868,Rare skin disease with inflammatory bowel disease,Category,Group of disorders,,,,,,,,,,,
717862,Rare disorder with inflammatory bowel disease,Category,Group of disorders,,,,,,,,,,,
717851,Rare non-syndromic inflammatory bowel disease,Clinical group,Group of disorders,,,,,,,,,,,
717854,Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
717841,Global developmental delay-facial dysmorphism-atrial septal defect syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
717846,Developmental delay-facial dysmorphism-Blaschko lines hypopigmentation-obesity-intellectual disability syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
717884,Global developmental delay-acquired macrocephaly-ataxia-febrile seizures syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
717877,Rare miscellaneous disease with inflammatory bowel disease,Category,Group of disorders,,,,,,,,,,,
717871,Rare systemic or rheumatologic diseases with inflammatory bowel disease,Category,Group of disorders,,,,,,,,,,,
717874,Rare inborn error of metabolism with inflammatory bowel disease,Category,Group of disorders,,,,,,,,,,,
718047,Combined immunodeficiency due to polymerase delta deficiency,Disease,Disorder,,,,,,,,,,,
718037,Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency,Disease,Disorder,,,,,,,,,,,
718017,Combined immunodeficiency due to COPG1 deficiency,Disease,Disorder,,,,620983,,,,,Combined immunodeficiency due to COPG1 deficiency,,Autosomal recessive
718255,Rare Y-linked non-syndromic sensorineural deafness type DFNY,Etiological subtype,Subtype of disorder,,,,,,,,,,,
718079,Combined immunodeficiency with normal B cells and normal immunoglubulins,Disease,Disorder,,,,,,,,,,,
718072,Combined immunodeficiency with low CD8 and normal CD4,Disease,Disorder,,,,,,,,,,,
718053,Combined immunodeficiency with low CD4 and normal CD8,Disease,Disorder,,,,,,,,,,,
694963,Inflammatory breast cancer,Disease,Disorder,,,,,,,,,,,
694946,Alazami-Yuan syndrome,Malformation syndrome,Disorder,,,,617126,,,,,Alazami-Yuan syndrome,,Autosomal recessive
694956,Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome,Malformation syndrome,Disorder,,,,619769,,,,,Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome,,Autosomal dominant
695020,Urachal carcinoma,Disease,Disorder,,,,,,,,,Urachal carcinoma,,Not applicable
694356,ADAR-related hereditary spastic paraplegia,Disease,Disorder,,,,,,,,,ADAR-related hereditary spastic paraplegia,,Autosomal dominant
694937,Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency,Malformation syndrome,Disorder,,,,619844,,,,,Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency,,Autosomal recessive
694922,Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome,Disease,Disorder,,,,618170,,,,,Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome,,Autosomal recessive
693912,EPHB4-related capillary malformation-arteriovenous malformation,Malformation syndrome,Disorder,,,,618196,,,,,EPHB4-related capillary malformation-arteriovenous malformation,,Autosomal dominant
693907,RASA1-related capillary malformation-arteriovenous malformation,Malformation syndrome,Disorder,,,,608354,,,,,RASA1-related capillary malformation-arteriovenous malformation,,Autosomal dominant
694308,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation,Etiological subtype,Subtype of disorder,,,,616083,,,,,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation,,Autosomal dominant
694304,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome,Disease,Disorder,,,,616083,,,,,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome,,Autosomal dominant
694228,Congenital intrahepatic arterioportal fistula,Malformation syndrome,Disorder,,,,,,,,,Congenital intrahepatic arterioportal fistula,,Not applicable
693872,Urinary tract arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,,,
117573,Syndromic anorectal malformation,Category,Group of disorders,,,,,C5681738,,,19874,,,
693869,Gallblader arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,,,
696189,Congenital generalized lipodystrophy type 1,Clinical subtype,Subtype of disorder,,,,603100,,,,,Congenital generalized lipodystrophy type 1,,Autosomal recessive
696206,Congenital generalized lipodystrophy type 3,Clinical subtype,Subtype of disorder,,,,612526,,,,,Congenital generalized lipodystrophy type 3,,Autosomal recessive
696242,PPARG-associated congenital generalized lipodystrophy,Clinical subtype,Subtype of disorder,,,,,,,,,PPARG-associated congenital generalized lipodystrophy,,Autosomal recessive
696289,Congenital generalized lipodystrophy type 2,Clinical subtype,Subtype of disorder,,,,269700,,,,,Congenital generalized lipodystrophy type 2,,Autosomal recessive
695783,EDEM3-CDG,Disease,Disorder,,,,619493,,,,,EDEM3-CDG,,Autosomal recessive
695807,Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome,Disease,Disorder,,,,619381,,,,,Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome,,Autosomal dominant
696063,PLIN4-related distal myopathy,Disease,Disorder,,,,601846,,,,,PLIN4-related distal myopathy,,Autosomal dominant
696078,Central giant cell granuloma,Disease,Disorder,,,,,,,,,Central giant cell granuloma,,Not applicable
696175,Encapsulating peritoneal sclerosis,Disease,Disorder,DC50.12,,,,,,,,,,
695164,Combined immunodeficiency with low B cells and hypogammaglobulinemia,Category,Group of disorders,,,,,,,,,,,
695147,Sickle cell-beta plus-thalassemia,Etiological subtype,Subtype of disorder,3A51.3,,D57.2,,,,,,Sickle cell-beta plus-thalassemia,,Autosomal recessive
695183,Late-onset combined immunodeficiency due to ICOS deficiency,Disease,Disorder,,,,607594,,,,,Late-onset combined immunodeficiency due to ICOS deficiency,,Autosomal recessive
695172,Combined immunodeficiency due to dimerization defective IKAROS mutation,Disease,Disorder,,,,,,,,,Combined immunodeficiency due to dimerization defective IKAROS mutation,,Autosomal dominant
695611,3q26q28 deletion syndrome,Malformation syndrome,Disorder,,,,,,,,,3q26q28 deletion syndrome,,Autosomal dominant
695191,Late-onset combined immunodeficiency due to ICOSL deficiency,Disease,Disorder,,,,620825,,,,,,,
695631,Primary vitreoretinal large B-cell lymphoma,Disease,Disorder,,,,,,,,,,,
695032,Giant omphalocele,Clinical subtype,Subtype of disorder,,,,,,,,,,,
695023,Pure squamous carcinoma of the urothelial tract,Disease,Disorder,,,,,,,,,Pure squamous carcinoma of the urothelial tract,,Not applicable
695038,Small omphalocele,Clinical subtype,Subtype of disorder,,,,,,,,,,,
695131,Acinar cystic transformation of the pancreas,Disease,Disorder,2E92.8,,D13.6,,,,,,Acinar cystic transformation of the pancreas,,Not applicable
695110,MAN2B2-CDG,Disease,Disorder,,,,,,,,,MAN2B2-CDG,,Autosomal recessive
695140,Sickle cell-beta zero-thalassemia,Etiological subtype,Subtype of disorder,3A51.3,,D57.2,,,,,,Sickle cell-beta zero-thalassemia,,Autosomal recessive
695136,Infant-type hemispheric glioma,Disease,Disorder,2A00.0Y,,C71.0,,,,,,,,
104077,Myopathic intestinal pseudoobstruction,Etiological subtype,Subtype of disorder,DA90.2,0015191,K59.8,,C5681739,,,19853,Myopathic intestinal pseudoobstruction,,Unknown
697091,Emergomycosis,Disease,Disorder,1F2L,,B48.7,,,,,,Emergomycosis,,Not applicable
697096,Cryptosporidiosis,Disease,Disorder,1A32,,A07.2,,,,,,Cryptosporidiosis,,Not applicable
104076,Leiomyosarcoma of small intestine,Disease,Disorder,2B58.Y,0003360,C17.0,,C0920305,,10041127,19852,,,
104075,Adenocarcinoma of the small intestine,Disease,Disorder,2B80.20,0003198,C17.9,,C0278803,,10073373,19851,Adenocarcinoma of the small intestine,Adult,Not applicable
104013,Metabolic disease with intestinal involvement,Category,Group of disorders,,,,,C5681740,,,19850,,,
104012,Rare inflammatory bowel disease,Category,Group of disorders,,,,,C5681741,,,19849,,,
104011,Rare tumor of intestine,Category,Group of disorders,,,,,C5680369,,,19848,,,
697053,Talaromycosis,Disease,Disorder,1F2K,,B48.4,,,,,,Talaromycosis,,Not applicable
104010,Intestinal polyposis syndrome,Clinical group,Group of disorders,,0015185,,,C0345891,D044483,10057018,19847,,,
104009,Rare disease involving intestinal motility,Category,Group of disorders,,,,,C5681742,,,19846,,,
697067,Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome,Malformation syndrome,Disorder,,,,619641,,,,,Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome,,Autosomal recessive
696942,Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency,Disease,Disorder,,,,618459,,,,,Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency,,Autosomal recessive
104008,Short bowel syndrome,Clinical group,Group of disorders,DA96.04,0015183,,,C0036992,D012778,10049416,1502,,,
696945,X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency,Disease,Disorder,,,,300310,,,,,X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency,,X-linked recessive
104007,Congenital enteropathy involving intestinal mucosa development,Category,Group of disorders,,,,,C5681743,,,,,,
696931,Common variable immunodeficiency phenotype due to TWEAK deficiency,Disease,Disorder,,,,,,,,,Common variable immunodeficiency phenotype due to TWEAK deficiency,,Autosomal dominant
104006,Congenital intestinal disease due to an enzymatic defect,Category,Group of disorders,,,,,C5681744,,,,,,
104005,Intestinal disease due to fat malabsorption,Category,Group of disorders,,,,,C5681745,,,19843,,,
104004,Intestinal disease due to vitamin absorption anomaly,Category,Group of disorders,,,,,C5681746,,,,,,
696925,Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency,Disease,Disorder,,,,613494,,,,,Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency,,Autosomal recessive
104003,Congenital intestinal transport defect,Category,Group of disorders,DA90.1,,,,C5681747,,,,,,
103920,OBSOLETE: Undetermined colitis,Disease,Disorder,,,,,,,,,,,
103919,Autoimmune pancreatitis,Clinical group,Group of disorders,DC33,0015175,,,C2609129,D000081012,10069002,10911,Autoimmune pancreatitis,,Not applicable
103917,OBSOLETE: Autoimmune enteropathy type 3,Disease,Disorder,,,,,,,,,,,
696907,Common variable immunodeficiency phenotype due to homozygous TACI deficiency,Disease,Disorder,,,,609529,,,,,Common variable immunodeficiency phenotype due to homozygous TACI deficiency,,Autosomal recessive
103918,Tropical pancreatitis,Disease,Disorder,DC32.5,0011986,K86.1,608189,C1842402,C564276,,,Tropical pancreatitis,Childhood,
696904,Common variable immunodeficiency phenotype due to IRF2BP2 deficiency,Disease,Disorder,,,,617765,,,,,Common variable immunodeficiency phenotype due to IRF2BP2 deficiency,,Autosomal dominant
103915,OBSOLETE: Immunoproliferative small intestinal disease,Disease,Disorder,,,,,,,,,,,
103916,OBSOLETE: Autoimmune enteropathy type 2,Disease,Disorder,,,,,,,,,,,
696897,Congenital megaprepuce,Morphological anomaly,Disorder,,,,,,,,,,,
696894,Common variable immunodeficiency phenotype due to CD21 deficiency,Disease,Disorder,,,,614699,,,,,Common variable immunodeficiency phenotype due to CD21 deficiency,,Autosomal recessive
103910,Congenital enterocyte heparan sulfate deficiency,Disease,Disorder,DA90.Y,0015171,P78.3,,C4511238,,,,Congenital enterocyte heparan sulfate deficiency,"Infancy, Neonatal",
103912,OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome,Disease,Disorder,,,,,,,,,,,
103908,Congenital sodium diarrhea,Disease,Disorder,DA90.1,0015170,K90.8,616868,C0267663,,,,Congenital sodium diarrhea,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
696881,Common variable immunodeficiency phenotype due to CD19/CD81 deficiency,Disease,Disorder,,,,613493,,,,,Common variable immunodeficiency phenotype due to CD19/CD81 deficiency,,Autosomal recessive
103909,Trehalase deficiency,Disease,Disorder,5C61.3,12803,E74.3,612119,C0268187,C562603,,10372,Trehalase deficiency,"Adolescent, Adult",Autosomal dominant
696874,NFKB1-related immune dysregulation,Disease,Disorder,4A01.2Y,,D81.8,616576,,,,,NFKB1-related immune dysregulation,,Autosomal dominant
696870,Common variable immunodeficiency phenotype due to germinal monogenic mutation,Category,Group of disorders,,,,,,,,,,,
103907,Chronic diarrhea due to glucoamylase deficiency,Disease,Disorder,5C61.1,0015169,E74.3,,C4275068,,,19838,Chronic diarrhea due to glucoamylase deficiency,Childhood,
696863,Common variable immunodeficiency phenotype due to somatic mutations,Disease,Disorder,,,,,,,,,,,
696857,Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations,Disease,Disorder,,,,,,,,,,,
102724,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,Disease,Disorder,2A60.0,0015166,C92.0,,C1292774,,,,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,"Adolescent, Adult, Childhood",
696851,Common variable immunodeficiency and related disorders,Category,Group of disorders,,,,,,,,,,,
102379,Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent,Disease,Disorder,2A60.20,0015164,C92.8,,C1332234,,,19835,,,
102381,Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor,Disease,Disorder,2A60.20,0015165,C92.0,,C4707659,,,,,,
696830,Female adnexal tumor of probable Wolffian origin,Disease,Disorder,,,,,,,,,,,
698043,Fibromuscular dysplasia of the renal arteries,Clinical subtype,Subtype of disorder,BD41.0,,I77.3,,,,,,Fibromuscular dysplasia of the renal arteries,,Not applicable
109011,Non-syndromic limb malformation,Category,Group of disorders,,,,,C5681749,,,19872,,,
698059,Fibromuscular dysplasia of the coronary arteries,Clinical subtype,Subtype of disorder,BD41.0,,I77.3,,,,,,Fibromuscular dysplasia of the coronary arteries,,Not applicable
109009,Syndrome with limb malformations as a major feature,Category,Group of disorders,,,Q87.2,,C5681750,,,19871,,,
698063,Fibromuscular dysplasia of the visceral arteries,Clinical subtype,Subtype of disorder,BD41.0,,I77.3,,,,,,Fibromuscular dysplasia of the visceral arteries,,Not applicable
117569,Rare intestinal disease,Category,Group of disorders,,,,,C5681751,,,19873,,,
698069,Fibromuscular dysplasia of the arteries of the extremities,Clinical subtype,Subtype of disorder,BD41.0,,I77.3,,,,,,Fibromuscular dysplasia of the arteries of the extremities,,Not applicable
698005,Epilepsy with generalized tonic-clonic seizures alone,Disease,Disorder,8A61.4Y,,G40.3,,,,,,,,
698012,Fibromuscular dysplasia,Disease,Disorder,BD41.0,,I77.3,,,,,,,,
109007,Arthrogryposis syndrome,Category,Group of disorders,LD26.4,0015225,,,C0003886,D001176,,19870,,,
698036,Fibromuscular dysplasia of the cervical and intracranial arteries,Clinical subtype,Subtype of disorder,BD41.0,,I77.3,,,,,,Fibromuscular dysplasia of the cervical and intracranial arteries,,Not applicable
108995,Syndromic respiratory or mediastinal malformation,Category,Group of disorders,,,,,C5681752,,,19868,,,
108993,Non-syndromic respiratory or mediastinal malformation,Category,Group of disorders,,,,,C5681753,,,19867,,,
108999,Rare disorder due to toxic effects,Category,Group of disorders,,,,,C5681754,,,,,,
108997,Rare anemia,Category,Group of disorders,,,,,C5681755,,,19869,,,
108987,OBSOLETE: Syndromic developmental defect of the eye,Category,Group of disorders,,,,,,,,,,,
697760,Intellectual disability-nasal speech-craniofacial dysmorphism syndrome,Malformation syndrome,Disorder,,,,618608,,,,,Intellectual disability-nasal speech-craniofacial dysmorphism syndrome,,Autosomal dominant
108985,OBSOLETE: Non-syndromic developmental defect of the eye,Category,Group of disorders,,,,,,,,,,,
697764,Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation,Etiological subtype,Subtype of disorder,,,,618608,,,,,Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation,,Autosomal dominant
697986,Congenital peritoneal encapsulation,Malformation syndrome,Disorder,,,,,,,,,,,
108991,Syndrome with a central nervous system malformation as a major feature,Category,Group of disorders,,,,,C5681756,,,19866,,,
108989,Non-syndromic central nervous system malformation,Category,Group of disorders,,,,,C5681757,,,19865,,,
108977,Non-syndromic diaphragmatic or abdominal wall malformation,Category,Group of disorders,,,,,C5681758,,,19863,,,
697414,Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation,Disease,Disorder,,,,,,,,,Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation,,Autosomal dominant
108979,Syndromic diaphragmatic or abdominal wall malformation,Category,Group of disorders,,,,,C5681759,,,19864,,,
697734,ST3GAL3-CDG,Disease,Disorder,,,,611090,,,,,ST3GAL3-CDG,,Autosomal recessive
697417,Common variable immunodeficiency phenotype due to SEC61A1 deficiency,Disease,Disorder,4A01.0Y,,D80.8,620670,,,,,Common variable immunodeficiency phenotype due to SEC61A1 deficiency,,Autosomal dominant
108969,Syndromic intestinal malformation,Category,Group of disorders,,,,,C5681760,,,19860,,,
108971,"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen",Category,Group of disorders,,,,,C5681761,,,,,,
697394,Combined immunodeficiency due to c-REL deficiency,Disease,Disorder,4A01.1Y,,D81.8,619652,,,,,Combined immunodeficiency due to c-REL deficiency,,Autosomal recessive
697403,Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency,Disease,Disorder,,,,,,,,,Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency,,Autosomal dominant
108973,"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen",Category,Group of disorders,,,,,C5681762,,,,,,
108961,Syndromic esophageal malformation,Category,Group of disorders,,,,,C5681763,,,19856,,,
697356,Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome,Malformation syndrome,Disorder,LD2F.1Y,,Q87.8,620789,,,,,Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome,,Autosomal dominant
108963,Non-syndromic gastroduodenal malformation,Category,Group of disorders,,,,,C5681764,,,19857,,,
108965,Syndromic gastroduodenal malformation,Category,Group of disorders,,,,,C5681765,,,19858,,,
697389,Combined immunodeficiency due to HELIOS deficiency,Disease,Disorder,,,,621233,,,,,Combined immunodeficiency due to HELIOS deficiency,,"Autosomal dominant, Autosomal recessive"
697385,Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency,Disease,Disorder,,,,619437,,,,,Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency,,Autosomal dominant
108967,Non-syndromic intestinal malformation,Category,Group of disorders,,,,,C5681766,,,,,,
104078,Unclassified intestinal pseudoobstruction,Etiological subtype,Subtype of disorder,DA90.2,,K59.8,,C5681767,,,19854,,,
697132,Lymphoepithelial cyst of the pancreas,Disease,Disorder,DC30.0,,K86.2,,,,,,,,
697101,Fontaine progeroid syndrome,Disease,Disorder,LD2B,,Q87.8,612289,,,,,,,
697160,Infantile epileptic spasms syndrome,Disease,Disorder,8A62.0,,G40.4,300672,,,,,Infantile epileptic spasms syndrome,,"Autosomal dominant, Autosomal recessive, X-linked dominant"
108959,Non-syndromic esophageal malformation,Category,Group of disorders,,,,,C5681768,,,19855,,,
699593,Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency,Clinical subtype,Subtype of disorder,,,,,,,,,,,
101995,Periodic fever syndrome,Category,Group of disorders,,0015137,,,C3889979,,10034533,19812,,,
699590,Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency,Disease,Disorder,4A01.2Y,,D84.8,,,,,,Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency,,Autosomal recessive
101992,Immunodeficiency due to a complement cascade protein anomaly,Category,Group of disorders,4A00.1,,D84.1,,C5681769,,,19811,,,
699578,Combined immunodeficiency with low Ig due to BCL10 deficiency,Disease,Disorder,4A01.1Y,,D84.8,,,,,,Combined immunodeficiency with low Ig due to BCL10 deficiency,,Autosomal recessive
101998,Rare epilepsy,Category,Group of disorders,,,,,C5681770,,,19814,,,
699605,NEMO deleted exon 5 autoinflammatory syndrome,Disease,Disorder,,,,301081,,,,,NEMO deleted exon 5 autoinflammatory syndrome,,"X-linked dominant, X-linked recessive"
699599,ICHAD syndrome,Disease,Disorder,,,,621234,,,,,ICHAD syndrome,,Autosomal dominant
699596,Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency,Clinical subtype,Subtype of disorder,,,,,,,,,,,
101997,Primary immunodeficiency,Category,Group of disorders,,,,,C0398686,D000081207,10064859,,,,
699645,Variable age-onset epilepsy syndrome,Clinical group,Group of disorders,,,,,,,,,,,
102002,Rare ataxia,Category,Group of disorders,,,,,C5681771,,,19816,,,
102003,Rare movement disorder,Category,Group of disorders,,,,,C5681772,,,19817,,,
699618,Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency,Disease,Disorder,4A00.2,,D84.8,618963,,,,,Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency,,Autosomal recessive
102000,Medullar disease,Category,Group of disorders,,,,,C5681773,,,19815,,,
699615,Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency,Disease,Disorder,4A00.2,,D84.8,620668,,,,,Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency,,Autosomal recessive
102006,Neurovascular malformation,Category,Group of disorders,,,,,C5681774,,,19819,Neurovascular malformation,All ages,
699683,Fibro-adipose vascular anomaly,Disease,Disorder,,,,,,,,,,,
699678,Necrotizing cellulitis,Clinical subtype,Subtype of disorder,,,,,,,,,Necrotizing cellulitis,,Not applicable
102005,Brain inflammatory disease,Category,Group of disorders,,,,,C5681775,,,,,,
698260,Carotid web,Disease,Disorder,BD41.0,,I77.3,,,,,,Carotid web,,Not applicable
101978,OBSOLETE: Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells,Category,Group of disorders,,,,,,,,,,,
101977,Immunodeficiency predominantly affecting antibody production,Category,Group of disorders,4A01.0,,,,C5681776,,,,,,
698085,Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome,Malformation syndrome,Disorder,,,,620075,,,,,Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome,,Autosomal recessive
698090,Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,,,,617333,,,,,Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome,,Autosomal dominant
698914,Platelet-activating anti-platelet factor 4 disorder,Clinical group,Group of disorders,,,,,,,,,,,
101982,OBSOLETE: Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells,Category,Group of disorders,,,,,,,,,,,
698945,Autoimmune heparin-induced thrombocytopenia,Disease,Disorder,,,,,,,,,,,
101980,OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells,Category,Group of disorders,,,,,,,,,,,
699057,Annular erythema of infancy,Disease,Disorder,,,,,,,,,,,
101987,Congenital neutropenia,Category,Group of disorders,4B00.00,0015134,D70,,C3805116,,,19809,,,
699021,Spontaneous heparin-induced thrombocytopenia,Disease,Disorder,,,,,,,,,,,
101985,Quantitative and/or qualitative congenital phagocyte defect,Category,Group of disorders,,,,,C5681777,,,19808,,,
699029,Vaccine-induced immune thrombotic thrombocytopenia,Disease,Disorder,,,,,,,,,,,
699068,Fontan-associated liver disease,Disease,Disorder,,,,,,,,,Fontan-associated liver disease,,Not applicable
101988,Primary immunodeficiency due to a defect in innate immunity,Category,Group of disorders,4A00,,,,C5681778,,,19810,,,
699835,Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome,Malformation syndrome,Disorder,LD90.Y,,Q87.8,,,,,,,,
102024,Human herpesvirus 8-related disorder,Category,Group of disorders,,0015157,,,C5680371,,,19830,,,
699822,Sickle cell S-Lepore disease,Clinical subtype,Subtype of disorder,,,,,,,,,,,
102025,OBSOLETE: Nuclear cell envelopathy,Category,Group of disorders,,,,,,,,,,,
699850,2p25.3 microduplication syndrome,Malformation syndrome,Disorder,,,,616521,,,,,2p25.3 microduplication syndrome,,Autosomal dominant
699844,Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
700085,Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant,Disease,Disorder,3A51.Y,,,,,,,,,,
102069,OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis,Disease,Disorder,,,,,,,,,,,
102237,Unexplained periodic fever syndrome,Category,Group of disorders,,0015158,,,C5681779,,,19831,,,
700090,Sickle cell S-O Arab disease,Clinical subtype,Subtype of disorder,,,,,,,,,,,
700111,Homozygous hemoglobin O Arab disease,Disease,Disorder,3A51.9,,D58.2,,,,,,Homozygous hemoglobin O Arab disease,,Autosomal recessive
700107,Sickle cell S-other specified hemoglobin variant,Clinical subtype,Subtype of disorder,,,,,,,,,,,
102283,Multiple congenital anomalies/dysmorphic syndrome-intellectual disability,Category,Group of disorders,,0015159,,,C5680372,,,,,,
102284,OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome,Category,Group of disorders,,,,,,,,,,,
700133,Idiopathic chronic pancreatitis,Disease,Disorder,DC32.4,,K86.1,,,,,,Idiopathic chronic pancreatitis,,Not applicable
700124,Autosomal recessive hereditary chronic pancreatitis,Disease,Disorder,DC32.2,,K86.1,167800,,,,,Autosomal recessive hereditary chronic pancreatitis,,Autosomal recessive
102285,Multiple congenital anomalies/dysmorphic syndrome without intellectual disability,Category,Group of disorders,,0015161,,,C5680373,,,19833,,,
102369,Rare syndromic intellectual disability,Category,Group of disorders,,,,,C5681780,,,19834,,,
700139,Late-onset idiopathic chronic pancreatitis,Clinical subtype,Subtype of disorder,,,,,,,,,Late-onset idiopathic chronic pancreatitis,,Not applicable
700136,Early-onset idiopathic chronic pancreatitis,Clinical subtype,Subtype of disorder,,,,,,,,,Early-onset idiopathic chronic pancreatitis,,Not applicable
102373,OBSOLETE: Primary glomerular disease,Category,Group of disorders,,,,,,,,,,,
102009,Classic lissencephaly,Clinical group,Group of disorders,LD20.1,0015146,,,C0431375,,,5049,,,
699697,Necrotizing fasciitis,Clinical subtype,Subtype of disorder,1B71,,,,,,,,Necrotizing fasciitis,,Not applicable
699702,Necrotizing myositis,Clinical subtype,Subtype of disorder,,,,,,,,,Necrotizing myositis,,Not applicable
102011,Lissencephaly type 3,Clinical group,Group of disorders,LD20.1,0015148,,,C1969029,C566908,,,,,
699708,CLN14 disease,Disease,Disorder,5C56.1,,E75.4,,,,,,,,
102010,Other syndrome with lissencephaly as a major feature,Category,Group of disorders,LD20.1,,,,C5681781,,,19820,,,
102013,Complex hereditary spastic paraplegia,Clinical group,Group of disorders,,0015150,,,C0393556,,,,,,
699718,Infantile CLN1 disease,Clinical subtype,Subtype of disorder,,,,256730,,,,,Infantile CLN1 disease,,Autosomal recessive
102012,Pure hereditary spastic paraplegia,Clinical group,Group of disorders,,0015149,,,C0393555,,,,,,
699734,Late infantile CLN1 disease,Clinical subtype,Subtype of disorder,,,,256730,,,,,Late infantile CLN1 disease,,Autosomal recessive
102015,Autosomal recessive limb-girdle muscular dystrophy,Category,Group of disorders,8C70.41,0015152,,,C2931907,C538640,,,Autosomal recessive limb-girdle muscular dystrophy,,Autosomal recessive
699739,Juvenile CLN1 disease,Clinical subtype,Subtype of disorder,,,,256730,,,,,Juvenile CLN1 disease,,Autosomal recessive
699745,Adult CLN1 disease,Clinical subtype,Subtype of disorder,,,,256730,,,,,Adult CLN1 disease,,Autosomal recessive
102014,Autosomal dominant limb-girdle muscular dystrophy,Category,Group of disorders,8C70.40,0015151,,,C5675009,,,,Autosomal dominant limb-girdle muscular dystrophy,,Autosomal dominant
699751,Infantile CLN2 disease,Clinical subtype,Subtype of disorder,,,,204500,,,,,Infantile CLN2 disease,,Autosomal recessive
699761,Late infantile CLN2 disease,Clinical subtype,Subtype of disorder,,,,204500,,,,,Late infantile CLN2 disease,,Autosomal recessive
699769,Juvenile CLN2 disease,Clinical subtype,Subtype of disorder,,,,204500,,,,,Juvenile CLN2 disease,,Autosomal recessive
699780,Juvenile CLN3 disease,Clinical subtype,Subtype of disorder,,,,204200,,,,,Juvenile CLN3 disease,,Autosomal recessive
699796,Protracted juvenile CLN3 disease,Clinical subtype,Subtype of disorder,,,,204200,,,,,Protracted juvenile CLN3 disease,,Autosomal recessive
102021,Rickettsial disease,Category,Group of disorders,,0006956,,,C0035585,D012282,,,,,
102020,Autosomal monosomy syndrome,Category,Group of disorders,LD44,,,,C0026499,,,,,,
699802,Late infantile CLN5 disease,Clinical subtype,Subtype of disorder,,,,256731,,,,,,,
102023,Typhus-group rickettsiosis,Category,Group of disorders,1C30,,,,C0343758,,,,,,
699807,Juvenile CLN5 disease,Clinical subtype,Subtype of disorder,,,,256731,,,,,Juvenile CLN5 disease,,Autosomal recessive
699812,Adult CLN5 disease,Clinical subtype,Subtype of disorder,,,,256731,,,,,Adult CLN5 disease,,Autosomal recessive
102022,Spotted fever rickettsiosis,Category,Group of disorders,1C31,,,,C5680374,,,,,,
101934,Genetic cardiac rhythm disease,Category,Group of disorders,,,,,C5681782,,,19785,,,
700508,Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy,Disease,Disorder,,,,618912,,,,,Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy,,Autosomal recessive
101932,Anomaly of the mitral subvalvular apparatus,Morphological anomaly,Disorder,LA87.13,0015109,Q23.8,,C3164517,,,19784,,,
700497,Juvenile CLN10 disease,Clinical subtype,Subtype of disorder,,,,610127,,,,,Juvenile CLN10 disease,,Autosomal recessive
700492,Late infantile CLN10 disease,Clinical subtype,Subtype of disorder,,,,610127,,,,,Late infantile CLN10 disease,,Autosomal recessive
700487,Congenital CLN10 disease,Clinical subtype,Subtype of disorder,,,,610127,,,,,Congenital CLN10 disease,,Autosomal recessive
700484,Late infantile CLN8 disease,Clinical subtype,Subtype of disorder,,,,,,,,,Late infantile CLN8 disease,,Autosomal recessive
700477,Adult CLN6 disease,Clinical subtype,Subtype of disorder,,,,204300,,,,,Adult CLN6 disease,,Autosomal recessive
101685,Rare non-syndromic intellectual disability,Disease,Disorder,,0015108,F70,,C4751233,,,19783,Rare non-syndromic intellectual disability,"Childhood, Infancy","Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive"
700472,Juvenile CLN6 disease,Clinical subtype,Subtype of disorder,,,,601780,,,,,Juvenile CLN6 disease,,Autosomal recessive
101943,Rare hepatic and biliary tract tumor,Category,Group of disorders,,,,,C5681783,,,19792,,,
101940,Rare metabolic liver disease,Category,Group of disorders,,,,,C5681784,,10019689,19790,,,
101941,Rare biliary tract disease,Category,Group of disorders,,,,,C5681785,,,19791,,,
101938,Rare vascular liver disease,Category,Group of disorders,,,,,C5681786,,,19788,,,
101939,Rare parenchymal liver disease,Category,Group of disorders,,,,,C5681787,,,19789,,,
101936,Rare gastroesophageal disease,Category,Group of disorders,,,,,C5681788,,,19786,,,
700746,OBSOLETE: Genetic common variable immunodeficiency phenotype and related disorders,Category,Group of disorders,,,,,,,,,,,
101937,Rare pancreatic disease,Category,Group of disorders,,,,,C5681789,,,19787,,,
700188,Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy,Disease,Disorder,8C75,,G71.0,,,,,,Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy,,Autosomal dominant
101351,Familial isolated congenital asplenia,Morphological anomaly,Disorder,LB22.0,0010066,Q89.0,271400,C4512055,,,,Familial isolated congenital asplenia,,Autosomal dominant
700170,DNAJB4-related distal myopathy,Disease,Disorder,8C75,,G71.0,,,,,,DNAJB4-related distal myopathy,,Autosomal dominant
700160,ADNP-related blepharophimosis-intellectual disability syndrome,Disease,Disorder,,,,,,,,,,,
700163,SMPX-related distal myopathy,Disease,Disorder,8C75,,G71.0,301075,,,,,SMPX-related distal myopathy,,X-linked recessive
700143,X-linked distal myopathy,Category,Group of disorders,,,,,,,,,,,
101338,OBSOLETE: Mediterranean spotted fever,Etiological subtype,Subtype of disorder,,,,,,,,,,,
700154,TARDBP-related predominantly upper-limb distal myopathy,Disease,Disorder,,,,,,,,,TARDBP-related predominantly upper-limb distal myopathy,,Autosomal dominant
101337,OBSOLETE: Marseilles fever,Etiological subtype,Subtype of disorder,,,,,,,,,,,
101435,Rare genetic eye disease,Category,Group of disorders,,,,,C5680375,,,19782,,,
700467,Late infantile CLN6 disease,Clinical subtype,Subtype of disorder,,,,601780,,,,,Late infantile CLN6 disease,,Autosomal recessive
700333,Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency,Clinical subtype,Subtype of disorder,LD90.Y,,Q87.8,616801,,,,,Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency,,Autosomal recessive
101433,Rare urogenital disease,Category,Group of disorders,,,,,C5681790,,,,,,
700336,Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency,Clinical subtype,Subtype of disorder,LD90.Y,,Q87.8,615419,,,,,Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency,,Autosomal recessive
101356,OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome,Disease,Disorder,,,,,,,,,,,
700325,NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome,Malformation syndrome,Disorder,,,,301039,,,,,NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome,,X-linked recessive
700205,Combined immunodeficiency due to IKBKB gain-of-function mutation,Disease,Disorder,,,,618204,,,,,Combined immunodeficiency due to IKBKB gain-of-function mutation,,Autosomal dominant
700286,Congenital high airway obstruction syndrome,Clinical syndrome,Disorder,KB2J.Y,,J98.8,,,,,,,,
708043,Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples,Malformation syndrome,Disorder,,,,621224,,,,,Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples,,Autosomal dominant
708036,Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth,Malformation syndrome,Disorder,,,,617392,,,,,Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth,,Autosomal recessive
708051,Peripheral congenital arteriovenous fistula,Malformation syndrome,Disorder,,,,,,,,,,,
708046,Peripheral arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,,,
708007,Intramuscular fast-flow vascular anomaly,Malformation syndrome,Disorder,,,,,,,,,,,
101960,Genetic chronic primary adrenal insufficiency,Category,Group of disorders,,,,,C5681791,,,19804,,,
707993,Methemoglobinemia-related cyanosis,Category,Group of disorders,,,,,,,,,,,
708019,Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome,Malformation syndrome,Disorder,,,,617364,,,,,Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome,,Autosomal dominant
708014,Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment,Malformation syndrome,Disorder,,,,,,,,,,,
101963,Acquired chronic primary adrenal insufficiency,Category,Group of disorders,,,,,C5681792,,,,,,
708171,Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy,Malformation syndrome,Disorder,,,,616211,,,,,Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy,,Autosomal recessive
101972,Combined T and B cell immunodeficiency,Clinical group,Group of disorders,4A01.1,,D81,,C5681793,,,,,,
708166,Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome,Malformation syndrome,Disorder,,,,,,,,,Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome,,Autosomal recessive
708178,Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome,Malformation syndrome,Disorder,,,,617260,,,,,Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome,,Autosomal dominant
708126,DNAJB6-related distal myopathy,Disease,Disorder,,,,,,,,,DNAJB6-related distal myopathy,,Autosomal dominant
708123,Autosomal dominant distal nebulin myopathy,Disease,Disorder,,,,,,,,,Autosomal dominant distal nebulin myopathy,,Autosomal dominant
708133,Autosomal dominant ACTN2-related distal myopathy,Disease,Disorder,,,,618655,,,,,Autosomal dominant ACTN2-related distal myopathy,,Autosomal dominant
708129,Autosomal recessive ACTN2-related distal myopathy,Disease,Disorder,,,,,,,,,Autosomal recessive ACTN2-related distal myopathy,,Autosomal recessive
101949,OBSOLETE: Rare acquired eye disease,Category,Group of disorders,,,,,,,,,,,
101950,Rare eye tumor,Category,Group of disorders,,,,,C5681794,,,19795,,,
101945,Rare bronchopulmonary and pleural cavity tumors,Category,Group of disorders,,,,,C5925054,,,19794,,,
101944,Rare pulmonary disease,Category,Group of disorders,,,,,C5681796,,,,,,
707792,Unstable gamma globin chain variant disease,Disease,Disorder,,,,,,,,,Unstable gamma globin chain variant disease,,Autosomal dominant
101957,Pituitary deficiency,Category,Group of disorders,5A61.0,0015127,E23.0,,C0020635,,,19801,,,
707937,Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome,Malformation syndrome,Disorder,,,,617146,,,,,Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome,,Autosomal recessive
101956,Polyendocrinopathy,Category,Group of disorders,,0015126,,,C5681797,,,19800,,,
707944,Peripheral fast-flow vascular malformation,Clinical group,Group of disorders,,,,,,,,,,,
101959,Chronic primary adrenal insufficiency,Category,Group of disorders,,0015129,,,C5848257,,,19803,Chronic primary adrenal insufficiency,All ages,Multigenic/multifactorial
707983,Early-onset autosomal recessive TTN-related distal myopathy,Disease,Disorder,,,,,,,,,Early-onset autosomal recessive TTN-related distal myopathy,,Autosomal recessive
101958,Primary adrenal insufficiency,Category,Group of disorders,,0015128,,,C3887896,,10052381,19802,,,
101953,Rare dyslipidemia,Category,Group of disorders,,,,,C5681798,,,19797,,,
101952,Rare diabetes mellitus,Category,Group of disorders,,,,,C5681799,,,19796,,,
707786,Thalassemia,Category,Group of disorders,,,,,,,,,,,
101955,Rare thyroid disease,Category,Group of disorders,,,,,C5681800,,,19799,,,
707789,Unstable alpha globin chain variant disease,Disease,Disorder,,,,,,,,,Unstable alpha globin chain variant disease,,Autosomal dominant
101954,Rare adrenal disease,Category,Group of disorders,,,,,C5681801,,,19798,,,
664511,"Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency",Clinical subtype,Subtype of disorder,,0014885,,,C4310746,,,,"Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency",,Autosomal recessive
101150,Autosomal recessive dopa-responsive dystonia,Disease,Disorder,8A02.11,0011551,G24.1,605407,C5700309,C537537,,1902,Autosomal recessive dopa-responsive dystonia,"Infancy, Neonatal",Autosomal recessive
664500,Hermansky-Pudlak syndrome due to AP3B1 deficiency,Clinical subtype,Subtype of disorder,,0011997,,,C5889871,,,,Hermansky-Pudlak syndrome due to AP3B1 deficiency,,Autosomal recessive
101151,Dystonia 14,Disease,Disorder,,,,,,,,,,,
664482,Primary hemophagocytic lymphohistiocytosis without hypopigmentation,Category,Group of disorders,,,,,C5925055,,,,,,
101111,Spinocerebellar ataxia type 25,Disease,Disorder,8A03.16,0012103,G11.8,608703,C1837518,C537202,,9996,Spinocerebellar ataxia type 25,All ages,Autosomal dominant
101112,Spinocerebellar ataxia type 26,Disease,Disorder,8A03.16,0012246,G11.2,609306,C1836395,C537203,,9995,Spinocerebellar ataxia type 26,Adult,Autosomal dominant
664456,Immune dysregulation disease with immunodeficiency associated with EBV susceptibility,Clinical group,Group of disorders,,,,,C5925056,,,,,,
101109,Spinocerebellar ataxia type 28,Disease,Disorder,8A03.16,0012450,G11.1,610246,C1853249,C537205,,9951,Spinocerebellar ataxia type 28,Childhood,Autosomal dominant
664450,Inherited cancer-predisposing lymphoproliferative syndrome,Category,Group of disorders,,,,,C5925057,,,,,,
664438,Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,LD25.Y,0032886,Q87.0,618729,C5231479,,,,Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome,,Autosomal dominant
101110,Spinocerebellar ataxia type 20,Disease,Disorder,8A03.16,0012098,G11.2,608687,C1837541,C537199,,9997,Spinocerebellar ataxia type 20,Adult,Autosomal dominant
101107,Spinocerebellar ataxia type 22,Disease,Disorder,,,,,C2746067,C542540,,,,,
101108,Spinocerebellar ataxia type 23,Disease,Disorder,8A03.16,0012449,G11.2,610245,C1853250,C537201,,9950,Spinocerebellar ataxia type 23,Adult,Autosomal dominant
664430,Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome,Malformation syndrome,Disorder,,0958278,Q04.8,620746,C5925058,,,,Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome,,Autosomal recessive
664416,Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation,Etiological subtype,Subtype of disorder,,0975751,,613443,C5925059,,,,Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation,,Autosomal dominant
664410,Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,,,Q87.0,613443,C3150700,,,,Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome,,"Autosomal dominant, Not applicable"
101106,OBSOLETE: Non-secreting chemodectoma,Clinical subtype,Subtype of disorder,,,,,,,,,,,
665058,Common arterial trunk with pulmonary dominance and interrupted aortic arch,Clinical subtype,Subtype of disorder,,0971108,,,C4546068,,,,,,
101336,OBSOLETE: Kenya tick typhus,Etiological subtype,Subtype of disorder,,,,,,,,,,,
667589,Isolated congenital femoral bifurcation,Morphological anomaly,Disorder,,,Q74.2,,C5925060,,,,,,
101335,OBSOLETE: Indian tick typhus,Etiological subtype,Subtype of disorder,,,,,,,,,,,
665044,Common arterial trunk with aortic dominance,Clinical subtype,Subtype of disorder,,0971107,,,C4546067,,,,,,
101334,African tick typhus,Disease,Disorder,1C31.1,,A77.1,,C1320317,,,19781,African tick typhus,,Not applicable
664912,Neonatal renal venous thrombosis,Disease,Disorder,GB90.3,0971105,I82.8,,C5925061,,,,Neonatal renal venous thrombosis,"Antenatal, Neonatal",
664923,Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome,Malformation syndrome,Disorder,,0032838,Q87.8,618622,C5231431,,,,,,
664787,Nicolau syndrome,Clinical syndrome,Disorder,,0971103,T80.1,,C1142083,,10058729,,,,
101330,Porphyria cutanea tarda,Disease,Disorder,5C58.10,0015104,E80.1,176100,C0162566,D017119,10036183,7433,Porphyria cutanea tarda,Adult,"Autosomal dominant, Multigenic/multifactorial"
664901,Trigeminal trophic syndrome,Disease,Disorder,,0800478,G50.8,,C1274928,,,,Trigeminal trophic syndrome,"Adult, Elderly",
664729,EBV-induced lymphoproliferative disease due to TET2 deficiency,Disease,Disorder,,,D82.3,619126,C5925062,,,,EBV-induced lymphoproliferative disease due to TET2 deficiency,Childhood,Autosomal recessive
664734,EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature,Clinical group,Group of disorders,,,,,C5925063,,,,,,
664726,EBV-induced lymphoproliferative disease due to CD137 deficiency,Disease,Disorder,,,D82.3,620282,C5925064,,,,EBV-induced lymphoproliferative disease due to CD137 deficiency,Childhood,Autosomal recessive
101206,Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome,Malformation syndrome,Disorder,LA88.20,0015103,Q22.2,,C4707896,,,19780,Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome,"Antenatal, Neonatal",
664711,EBV-induced lymphoproliferative disease due to PRKCD deficiency,Disease,Disorder,,,D82.3,615559,C5925065,,,,EBV-induced lymphoproliferative disease due to PRKCD deficiency,,Autosomal recessive
664699,EBV-induced lymphoproliferative disease due to RASGRP1 deficiency,Disease,Disorder,,,D82.3,,C5925066,,,,EBV-induced lymphoproliferative disease due to RASGRP1 deficiency,,Autosomal recessive
662473,Isolated duodenal duplication,Clinical subtype,Subtype of disorder,LB14,,Q43.4,,C5925067,,,,Isolated duodenal duplication,,Not applicable
101085,Charcot-Marie-Tooth disease type 1F,Disease,Disorder,8C20.0,0011902,G60.0,607734,C1843164,C537987,,,Charcot-Marie-Tooth disease type 1F,"Childhood, Infancy",Autosomal dominant
662456,Isolated small intestine duplication,Morphological anomaly,Disorder,LB15.Y,,Q43.4,,,,,,Isolated small intestine duplication,"Infancy, Neonatal",Not applicable
662721,Placenta accreta spectrum disorder,Disease,Disorder,JA8A.2,0005916,O43.2,,,,,,,,
662480,Isolated jejuno-ileal duplication,Clinical subtype,Subtype of disorder,,,,,C5925068,,,,Isolated jejuno-ileal duplication,,Not applicable
101088,X-linked hyper-IgM syndrome,Clinical subtype,Subtype of disorder,4A01.1Y,0010626,D80.5,308230,C0398689,D053307,,73,X-linked hyper-IgM syndrome,,X-linked recessive
662388,Isolated gallbladder duplication,Morphological anomaly,Disorder,LB20.1Y,,Q44.1,,C0266250,,,,Isolated gallbladder duplication,,Not applicable
101081,Charcot-Marie-Tooth disease type 1A,Disease,Disorder,LD41.G1,0007309,G60.0,118220,C0270911,,,1245,Charcot-Marie-Tooth disease type 1A,Childhood,Autosomal dominant
662376,Isolated gastric duplication,Morphological anomaly,Disorder,,,Q40.2,,C0266148,,,,Isolated gastric duplication,"Adult, Childhood, Infancy, Neonatal",Not applicable
101082,Charcot-Marie-Tooth disease type 1B,Disease,Disorder,8C20.0,0007307,G60.0,118200,C0270912,,,,Charcot-Marie-Tooth disease type 1B,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
662405,Isolated pyloric duplication,Morphological anomaly,Disorder,,,Q40.2,,C5925069,,,,Isolated pyloric duplication,Neonatal,Not applicable
101083,Charcot-Marie-Tooth disease type 1C,Disease,Disorder,8C20.0,0010995,G60.0,601098,C0270913,C537984,,,Charcot-Marie-Tooth disease type 1C,"Adolescent, Adult, Childhood",Autosomal dominant
662392,Isolated colonic duplication,Morphological anomaly,Disorder,,,Q43.4,,C0266202,,,,Isolated colonic duplication,,Not applicable
101084,Charcot-Marie-Tooth disease type 1D,Disease,Disorder,8C20.0,0011890,G60.0,607678,C1843247,C537985,,,Charcot-Marie-Tooth disease type 1D,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
662240,Frey syndrome,Clinical syndrome,Disorder,8B82.Z,7753,G50.8,,C0162473,D013547,,,Frey syndrome,Infancy,Not applicable
101077,X-linked Charcot-Marie-Tooth disease type 3,Disease,Disorder,LD90.Y,0010551,G60.0,302802,C1844865,C535303,,,X-linked Charcot-Marie-Tooth disease type 3,"Adolescent, Childhood",X-linked recessive
101078,X-linked Charcot-Marie-Tooth disease type 4,Disease,Disorder,LD90.Y,0010689,G60.0,310490,C0795910,C536450,,,X-linked Charcot-Marie-Tooth disease type 4,"Childhood, Infancy, Neonatal",X-linked recessive
662234,Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome,Malformation syndrome,Disorder,,0859143,Q87.8,619312,C5543339,,,,Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome,,Autosomal dominant
662367,NESCAV syndrome,Disease,Disorder,,,G93.8,614255,C5393830,,,,NESCAV syndrome,"Childhood, Infancy",Autosomal dominant
662255,Grisel syndrome,Clinical syndrome,Disorder,LB73.22,0971080,M43.8,,C0263885,,,,Grisel syndrome,Childhood,Not applicable
662216,Mucopolysaccharidosis type 10,Disease,Disorder,5C56.3Y,30524,E76.2,619698,C5925070,,,,Mucopolysaccharidosis type 10,Childhood,Autosomal recessive
662207,Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome,Malformation syndrome,Disorder,,0859301,Q87.8,620083,C5774235,,,,Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome,Infancy,Autosomal dominant
662229,Episodic memory defect leukoencephalopathy,Disease,Disorder,,0971077,G93.4,,C5925071,,,,,,
101075,X-linked Charcot-Marie-Tooth disease type 1,Disease,Disorder,8C20.0,0010549,G60.0,302800,C0393808,C535919,,,X-linked Charcot-Marie-Tooth disease type 1,Childhood,X-linked dominant
101076,X-linked Charcot-Marie-Tooth disease type 2,Disease,Disorder,LD90.Y,0010550,G60.0,302801,C1844873,C535302,,,X-linked Charcot-Marie-Tooth disease type 2,"Childhood, Infancy",X-linked recessive
664377,MGP-related spondyloepiphyseal dysplasia,Malformation syndrome,Disorder,,0971093,Q77.7,,C5925072,,,,,,
101102,Charcot-Marie-Tooth disease type 2H,Disease,Disorder,8C20.1,0011901,G60.0,607731,C1843173,C535415,,,Charcot-Marie-Tooth disease type 2H,Childhood,Autosomal recessive
664401,Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation,Etiological subtype,Subtype of disorder,,0971094,,614980,C5925073,,,,Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation,,Autosomal dominant
101101,Charcot-Marie-Tooth disease type 2B2,Disease,Disorder,8C20.1,0011570,G60.0,605589,C1854150,C537991,,,Charcot-Marie-Tooth disease type 2B2,Adult,Autosomal recessive
664404,6q25.1 microdeletion syndrome,Etiological subtype,Subtype of disorder,,0971095,,614980,C5925074,,,,6q25.1 microdeletion syndrome,,Not applicable
101104,Marin-Amat syndrome,Clinical subtype,Subtype of disorder,9A03.00,0015101,Q07.8,,C5681802,,,19779,,,
101097,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,Disease,Disorder,8C20.1,11916,G60.0,607831,C1842983,C535418,,12448,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,"Infancy, Neonatal",Autosomal recessive
664372,Soft and hard cleft palate,Morphological anomaly,Disorder,,0971092,Q35.5,,,,,,,,
101096,OBSOLETE: Aregenerative anemia,Disease,Disorder,,,,,,,,,,,
662762,Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome,Malformation syndrome,Disorder,,0859324,Q87.0,620141,C5925075,,,,Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome,,Autosomal dominant
101090,Hyper-IgM syndrome type 3,Clinical subtype,Subtype of disorder,4A01.1Y,0011735,D80.5,606843,C1720957,,,10579,Hyper-IgM syndrome type 3,,Autosomal recessive
662786,Vasa previa,Disease,Disorder,JB08.3,,P50.0,,C0269852,,10047036,,,,
101089,Hyper-IgM syndrome type 2,Clinical subtype,Subtype of disorder,4A01.05,0011528,D80.5,605258,C1720956,,,10578,Hyper-IgM syndrome type 2,,Autosomal recessive
662829,Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome,Disease,Disorder,,0060763,Q87.0,618092,C5925076,,,,Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome,,Autosomal dominant
101092,Hyper-IgM syndrome type 5,Clinical subtype,Subtype of disorder,4A01.05,0011971,D80.5,608106,C1720958,,,10581,Hyper-IgM syndrome type 5,,Autosomal recessive
662934,Acute megakaryoblastic leukemia in adult,Clinical subtype,Subtype of disorder,,0971091,,,C0279632,,,,,,
101091,Hyper-IgM syndrome type 4,Clinical subtype,Subtype of disorder,4A01.1Y,0011985,D80.5,608184,C1842413,C564277,,10580,,,
675362,Hobnail hemangioma,Disease,Disorder,LA90.1Z,0003258,,,C0346076,,,,Hobnail hemangioma,All ages,
675359,Anastomosing haemangioma,Disease,Disorder,,0975757,,,C4329301,,,,Anastomosing haemangioma,"Adolescent, Adult, Elderly, Infancy",
101052,OBSOLETE: Microlissencephaly type B,Disease,Disorder,,,,,,,,,,,
675216,Spinocerebellar ataxia type 27B,Disease,Disorder,,859340,,620174,C5925077,,,,Spinocerebellar ataxia type 27B,,Autosomal dominant
101049,Familial hypocalciuric hypercalcemia type 2,Etiological subtype,Subtype of disorder,5A51.2,0007792,E83.5,145981,C1840347,C537146,,9758,Familial hypocalciuric hypercalcemia type 2,,Autosomal dominant
101050,Familial hypocalciuric hypercalcemia type 3,Etiological subtype,Subtype of disorder,5A51.2,0010926,E83.5,600740,C1833372,C537147,,2878,Familial hypocalciuric hypercalcemia type 3,,Autosomal dominant
674968,Bilateral diffuse uveal melanocytic proliferation disease,Disease,Disorder,9A9Y,0971131,,,C5925078,,,,,,
675380,Isolated segmental infantile hemangioma,Disease,Disorder,,0971133,,,C5925079,,,,,,
675369,Microvenular haemangioma,Disease,Disorder,2F2Y,0975758,,,C1304506,,,,Microvenular haemangioma,Adult,
101043,Congenital aortic valve dysplasia,Clinical subtype,Subtype of disorder,,,Q23.0,,C5397239,,,19776,,,
674943,Isolated angioid streaks,Disease,Disorder,9B78.3Y,0971126,,,C5925080,,,,Isolated angioid streaks,"Adult, Elderly",
674935,Torpedo Maculopathy,Disease,Disorder,9B6Y,0971125,,,C5891237,,,,Torpedo Maculopathy,All ages,
674930,Perifoveal exudative vascular anomalous complex,Disease,Disorder,9B7Y,0971124,,,C5925081,,,,Perifoveal exudative vascular anomalous complex,,Unknown
101041,Familial hypofibrinogenemia,Clinical subtype,Subtype of disorder,3B14.0,0015096,D68.2,202400,C5681803,,,2887,Familial hypofibrinogenemia,All ages,Autosomal dominant
101042,OBSOLETE: Taussig-Bing syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
674924,Isolated retinal racemose hemangioma,Disease,Disorder,2E81.0Y,0971123,,,C5890449,,,,,,
674965,Choroidal osteoma,Disease,Disorder,2F36.0,0971130,,,C5400362,,10084635,,Choroidal osteoma,All ages,
674958,Stellate multiform amelanotic choroidopathy,Disease,Disorder,9B6Y,0971129,,,C5925082,,,,Stellate multiform amelanotic choroidopathy,Adult,
674953,Multiple evanescent white dot syndrome,Disease,Disorder,9B65.0,0971128,,,C0730322,,,,,,
674947,Diffuse unilateral subacute neuroretinitis,Disease,Disorder,9B65.0,0971127,,,C0339404,,,,,,
101046,Epilepsy with auditory features,Disease,Disorder,8A61.3Y,0010898,G40.0,616461,C1838062,C537297,,2257,Epilepsy with auditory features,"Adolescent, Adult, Childhood",Autosomal dominant
101068,Congenital stromal corneal dystrophy,Disease,Disorder,9A70.Y,0012401,H18.5,610048,C1864738,C566452,,,Congenital stromal corneal dystrophy,Neonatal,Autosomal dominant
675767,Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency,Disease,Disorder,,0032899,,618752,C5925083,,,,Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency,,Autosomal dominant
101071,Unilateral hemispheric polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0015099,Q04.3,,C5681804,,,19777,Unilateral hemispheric polymicrogyria,"Antenatal, Infancy, Neonatal",
101070,Bilateral frontoparietal polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0011738,Q04.3,606854,C1847352,C564652,,10784,Bilateral frontoparietal polymicrogyria,"Antenatal, Infancy, Neonatal",Autosomal recessive
675597,Acquired elastotic haemangioma,Disease,Disorder,2F2Y,0975759,,,C5925084,,,,Acquired elastotic haemangioma,"Adult, Elderly",
675396,Epithelioid hemangioma,Disease,Disorder,,0021169,,,,,,,,,
675404,May-Thurner syndrome,Disease,Disorder,BD73.2Y,0043361,,,C3165062,,10069727,,May-Thurner syndrome,,Not applicable
675628,TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome,Disease,Disorder,,0024777,,301078,C5676883,,,,TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome,,X-linked recessive
101063,Situs inversus totalis,Morphological anomaly,Disorder,LA82,10029,Q89.3,,C0037221,,,4883,Situs inversus totalis,,"Autosomal dominant, Autosomal recessive, Not applicable"
667678,Intraoral basal cell carcinoma,Disease,Disorder,2E60.0,0971111,D00.0,,C5925085,,,,Intraoral basal cell carcinoma,,Not yet documented
667662,Breast implant-associated anaplastic large cell lymphoma,Disease,Disorder,2A90.B,850112,C84.7,,C4528210,,10082495,,Breast implant-associated anaplastic large cell lymphoma,"Adult, Elderly",Not applicable
672979,Craniosynostosis-facial dysmorphism-brachydactyly syndrome,Malformation syndrome,Disorder,,0014128,Q87.0,615314,C4303810,,,,,,
673466,Malignant vascular tumor,Clinical group,Group of disorders,,,,,C1334630,,,,,,
672985,Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome,Malformation syndrome,Disorder,,0014705,Q87.0,616602,C5925086,,,,,,
101022,Mediterranean macrothrombocytopenia,Disease,Disorder,,,,,C0272281,,,,,,
101023,Cleft hard palate,Morphological anomaly,Disorder,LA42.0,0015092,Q35.1,,C0432090,,,19774,,,
673473,Borderline vascular tumor,Clinical group,Group of disorders,,,,,C5925087,,,,,,
673470,Benign vascular tumor,Clinical group,Group of disorders,,,,,C1377916,,10056253,,,,
101009,Autosomal dominant spastic paraplegia type 29,Disease,Disorder,8B44.00,0012334,G11.4,609727,C1857855,C536863,,9729,Autosomal dominant spastic paraplegia type 29,Adolescent,Autosomal dominant
101010,Autosomal spastic paraplegia type 30,Disease,Disorder,8B44.0Y,0012476,G11.4,610357,C5235139,,,,Autosomal spastic paraplegia type 30,"Adolescent, Adult","Autosomal dominant, Autosomal recessive"
101011,Autosomal dominant spastic paraplegia type 31,Disease,Disorder,8B44.00,0012453,G11.4,610250,C1853247,C565210,,10817,Autosomal dominant spastic paraplegia type 31,Childhood,Autosomal dominant
101016,Romano-Ward syndrome,Disease,Disorder,BC65.0,,I45.8,613693,C4551647,D029597,10039211,3284,Romano-Ward syndrome,All ages,"Autosomal dominant, Autosomal recessive"
673580,Classic pilocytic astrocytoma,Clinical subtype,Subtype of disorder,,0003999,,,C0280783,,,,,,
673585,Pilocytic astrocytoma with histological features of anaplasia,Clinical subtype,Subtype of disorder,,0971118,,,,,,,,,
101033,OBSOLETE: Peters anomaly-cataract syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
674499,Proteoglycan-related bone disorder,Category,Group of disorders,,,,,C5925088,,,,,,
101036,OBSOLETE: Zlotogura-Martinez syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
674648,Syndrome with congenital phagocyte functional defect as a major feature,Category,Group of disorders,,,,,C5925089,,,,,,
674653,Actinomyopathy-associated syndromic thrombocytopenia,Disease,Disorder,3B64.01,,,620475,C5882677,,,,Actinomyopathy-associated syndromic thrombocytopenia,,Autosomal dominant
674762,Early-onset autoinflammatory syndrome due to A20 haploinsufficiency,Disease,Disorder,4A60.Y,0800045,,616744,C5925090,,,,Early-onset autoinflammatory syndrome due to A20 haploinsufficiency,,Autosomal dominant
674896,Non-syndromic congenital phagocyte functional defect,Category,Group of disorders,,,,,C5925091,,,,,,
101039,Female restricted epilepsy with intellectual disability,Disease,Disorder,,0010246,,,C1848137,C564715,,10806,,,
673525,Intravascular papillary endothelial hyperplasia,Disease,Disorder,,0043349,,,C0343083,,10060711,,,,
673538,Littoral cell hemangioma of the spleen,Disease,Disorder,,0975752,,,C1627365,,,,,,
101028,Transaldolase deficiency,Disease,Disorder,5C51.0,0011624,E74.8,606003,C1291329,C563207,,10445,Transaldolase deficiency,"Antenatal, Infancy, Neonatal",Autosomal recessive
673543,Papillary hemangioma,Disease,Disorder,,0975753,,,C5925092,,,,,,
101030,Subependymal nodular heterotopia,Clinical subtype,Subtype of disorder,LA05.5Y,0015094,Q04.8,,C3160906,,10071150,5050,Subependymal nodular heterotopia,"Antenatal, Infancy, Neonatal",
101029,Sub-cortical nodular heterotopia,Clinical subtype,Subtype of disorder,LA05.5Y,0015093,Q04.8,,C5681805,,,19775,Sub-cortical nodular heterotopia,"Antenatal, Infancy, Neonatal",
673556,Pseudomyogenic hemangioendothelioma,Disease,Disorder,,0975754,,,C3840252,,,,,,
673568,Eccrine angiomatous hamartoma,Disease,Disorder,,0975755,,,C0406801,,,,,,
673574,Reactive angioendotheliomatosis,Disease,Disorder,,0975756,,,C2930870,,10083476,,,,
100984,Autosomal dominant spastic paraplegia type 3,Disease,Disorder,8B44.00,,G11.4,182600,C2931355,C536864,,5041,Autosomal dominant spastic paraplegia type 3,"Adult, Childhood",Autosomal dominant
685067,Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome,Disease,Disorder,LD27.0Y,,Q82.4,618180,,,,,Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome,,Autosomal recessive
685082,Pediatric acute respiratory distress syndrome,Disease,Disorder,CB00,,,,,,,,,,
685017,Combined immunodeficiency due to TBX1 deficiency,Disease,Disorder,,,D81.8,188400,,,,,Combined immunodeficiency due to TBX1 deficiency,"Infancy, Neonatal",Autosomal dominant
100982,Autosomal recessive pure spastic paraplegia,Clinical group,Group of disorders,,,,,C5680376,,,19773,Autosomal recessive pure spastic paraplegia,,Autosomal recessive
100981,Autosomal recessive complex spastic paraplegia,Clinical group,Group of disorders,,,,,C5680377,,,19772,Autosomal recessive complex spastic paraplegia,,Autosomal recessive
685004,Primary pericardial mesothelioma,Disease,Disorder,,,,,,,,,,,
100980,Autosomal dominant pure spastic paraplegia,Clinical group,Group of disorders,,,,,C5680378,,,19771,Autosomal dominant pure spastic paraplegia,,Autosomal dominant
685010,Mesothelioma of the tunica vaginalis,Disease,Disorder,,,,,,,,,Mesothelioma of the tunica vaginalis,Elderly,
100979,Autosomal dominant complex spastic paraplegia,Clinical group,Group of disorders,,0015087,,,C5680379,,,19770,Autosomal dominant complex spastic paraplegia,,Autosomal dominant
100978,Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,Malformation syndrome,Disorder,LD24.GY,0015086,Q87.5,,C5190852,,,853,Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,Neonatal,
684757,Malformation of the anal canal and the rectum,Category,Group of disorders,,,,,,,,,,,
686468,Post 5-alpha-reductase inhibitors treatment syndrome,Disease,Disorder,,,F52.8,,,,,,Post 5-alpha-reductase inhibitors treatment syndrome,,Not applicable
686475,Post-selective serotonin reuptake inhibitor sexual dysfunction,Disease,Disorder,,,F52.8,,,,,,Post-selective serotonin reuptake inhibitor sexual dysfunction,,Not applicable
100991,Autosomal dominant spastic paraplegia type 10,Disease,Disorder,8B44.00,0011408,G11.4,604187,C1858712,C537482,,9590,Autosomal dominant spastic paraplegia type 10,"Adolescent, Adult, Childhood",Autosomal dominant
100990,OBSOLETE: Autosomal dominant spastic paraplegia type 9,Disease,Disorder,,,,,,,,,,,
686462,Non-fibrotic hypersensitivity pneumonitis,Clinical subtype,Subtype of disorder,,,,,,,,,Non-fibrotic hypersensitivity pneumonitis,,Not applicable
686465,Fibrotic hypersensitivity pneumonitis,Clinical subtype,Subtype of disorder,,,,,,,,,Fibrotic hypersensitivity pneumonitis,,Not applicable
100989,Autosomal dominant spastic paraplegia type 8,Disease,Disorder,8B44.00,0011339,G11.4,603563,C1863704,C580458,,9591,Autosomal dominant spastic paraplegia type 8,"Adolescent, Adult",Autosomal dominant
100988,Autosomal dominant spastic paraplegia type 6,Disease,Disorder,8B44.00,0010878,G11.4,600363,C1838192,C536866,,4928,Autosomal dominant spastic paraplegia type 6,"Adolescent, Adult, Childhood",Autosomal dominant
686447,OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases,Disease,Disorder,,,,,,,,,,,
100986,Autosomal recessive spastic paraplegia type 5A,Disease,Disorder,8B44.01,0010047,G11.4,270800,C1849115,C564811,,4926,Autosomal recessive spastic paraplegia type 5A,"Adolescent, Childhood",Autosomal recessive
100985,Autosomal dominant spastic paraplegia type 4,Disease,Disorder,8B44.00,0008438,G11.4,182601,C1866855,C536865,,4925,Autosomal dominant spastic paraplegia type 4,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
687424,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion,Etiological subtype,Subtype of disorder,,,,616083,,,,,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion,,Autosomal dominant
100999,Autosomal dominant spastic paraplegia type 19,Disease,Disorder,8B44.00,0011785,G11.4,607152,C1846685,C536856,,9588,Autosomal dominant spastic paraplegia type 19,Adult,Autosomal dominant
101000,Autosomal recessive spastic paraplegia type 20,Disease,Disorder,8B44.01,0010156,G11.4,275900,C0393559,C536858,,5372,Autosomal recessive spastic paraplegia type 20,Infancy,Autosomal recessive
686999,Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome,Disease,Disorder,,,,620683,,,,,Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome,,Autosomal recessive
100997,X-linked spastic paraplegia type 16,Disease,Disorder,8B44.02,0010287,G11.4,300266,C1846046,C536643,,9585,X-linked spastic paraplegia type 16,Infancy,X-linked recessive
686556,Isolated congenital cholesteatoma of the middle ear,Morphological anomaly,Disorder,,,,,,,,,Isolated congenital cholesteatoma of the middle ear,,Unknown
100998,Autosomal dominant spastic paraplegia type 17,Disease,Disorder,8B44.00,0010043,G11.4,270685,C2931276,C536644,,4219,Autosomal dominant spastic paraplegia type 17,"Adolescent, Adult, Childhood",Autosomal dominant
100995,Autosomal recessive spastic paraplegia type 14,Disease,Disorder,8B44.01,0011522,G11.4,605229,C1854568,C537486,,9589,Autosomal recessive spastic paraplegia type 14,Adult,Autosomal recessive
686495,MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome,Disease,Disorder,,,,619004,,,,,MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome,Infancy,Autosomal recessive
100996,Kjellin syndrome,Disease,Disorder,8B44.01,0010044,G11.4,270700,C1849128,C536642,,9581,Kjellin syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
686488,RNU4-2-related autosomal dominant neurodevelopmental disorder,Malformation syndrome,Disorder,,,,620851,,,,,RNU4-2-related autosomal dominant neurodevelopmental disorder,"Antenatal, Neonatal",Autosomal dominant
100993,Autosomal dominant spastic paraplegia type 12,Disease,Disorder,8B44.00,0011489,G11.4,604805,C1858106,C537484,,9586,Autosomal dominant spastic paraplegia type 12,"Adolescent, Adult, Childhood",Autosomal dominant
686482,BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome,Malformation syndrome,Disorder,,,Q87.8,617755,,,,,BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome,,Autosomal dominant
100994,Autosomal dominant spastic paraplegia type 13,Disease,Disorder,8B44.00,0011532,G11.4,605280,C1854467,C537485,,9616,Autosomal dominant spastic paraplegia type 13,"Adolescent, Adult",Autosomal dominant
688563,Combined immunodeficiency with normal Ig and poor specific antibody response,Clinical group,Group of disorders,,,,,,,,,,,
101007,Autosomal recessive spastic paraplegia type 27,Disease,Disorder,8B44.01,0012181,G11.4,609041,C1836899,C563807,,16940,Autosomal recessive spastic paraplegia type 27,"Adolescent, Adult",Autosomal recessive
688543,Reticular dysgenesis-like severe combined immunodeficiency,Disease,Disorder,,,D81.0,,,,,,Reticular dysgenesis-like severe combined immunodeficiency,,Autosomal dominant
101008,Autosomal recessive spastic paraplegia type 28,Disease,Disorder,8B44.01,0012256,G11.4,609340,C1836295,C563732,,16941,Autosomal recessive spastic paraplegia type 28,"Adolescent, Childhood, Infancy",Autosomal recessive
688523,Splenic venous malformation,Disease,Disorder,,,D73.8,,,,,,Splenic venous malformation,,Not applicable
101005,Autosomal recessive spastic paraplegia type 25,Disease,Disorder,8B44.01,0011992,G11.4,608220,C2936860,C536861,,9582,Autosomal recessive spastic paraplegia type 25,Adult,Autosomal recessive
101006,Autosomal recessive spastic paraplegia type 26,Disease,Disorder,8B44.01,0012213,G11.4,609195,C1836632,C536862,,9587,Autosomal recessive spastic paraplegia type 26,"Adolescent, Childhood",Autosomal recessive
687741,Multisystem Langerhans cell histiocytosis,Clinical subtype,Subtype of disorder,,,C96.0,,,,,,Multisystem Langerhans cell histiocytosis,,Not applicable
687738,Single-system multifocal Langerhans cell histiocytosis,Clinical subtype,Subtype of disorder,,,C96.5,,,,,,Single-system multifocal Langerhans cell histiocytosis,,Not applicable
101003,Autosomal recessive spastic paraplegia type 23,Disease,Disorder,8B44.01,0010046,G11.4,270750,C0796019,C536859,,336,Autosomal recessive spastic paraplegia type 23,Childhood,Autosomal recessive
687733,Pulmonary Langerhans cell histiocytosis,Clinical subtype,Subtype of disorder,,,C96.5,,,,,,Pulmonary Langerhans cell histiocytosis,,Not applicable
101004,Autosomal recessive spastic paraplegia type 24,Disease,Disorder,8B44.01,0011862,G11.4,607584,C1843569,C564375,,9296,Autosomal recessive spastic paraplegia type 24,Infancy,Autosomal recessive
687730,Unifocal Langerhans cell histiocytosis,Clinical subtype,Subtype of disorder,,,,,,,,,Unifocal Langerhans cell histiocytosis,,Not applicable
101001,Autosomal recessive spastic paraplegia type 21,Disease,Disorder,8B44.01,0009568,G11.4,248900,C1855346,C565409,,16939,Autosomal recessive spastic paraplegia type 21,"Adolescent, Adult, Childhood",Autosomal recessive
687695,10p13-p14 deletion syndrome,Malformation syndrome,Disorder,,,Q93.5,601362,,,,,10p13-p14 deletion syndrome,,Not applicable
675822,Well-differentiated papillary mesothelial tumour of the pleura,Disease,Disorder,,0971140,,,C5925093,,,,,,
100088,Rare thyroid carcinoma,Category,Group of disorders,,,,,C5816697,,,,Rare thyroid carcinoma,Adult,
675833,Localized pleural mesothelioma,Clinical subtype,Subtype of disorder,,0971141,,,C5925094,,,,,,
675837,Diffused pleural mesothelioma,Clinical subtype,Subtype of disorder,,0971142,,,C5925095,,,,,,
100091,Adrenal/paraganglial tumor,Category,Group of disorders,,,,,C5681806,,,19765,,,
675841,Pleural mesothelioma in situ,Clinical subtype,Subtype of disorder,,0971143,,,C5668165,,,,,,
100090,Rare parathyroid tumor,Category,Group of disorders,,,,,C5681807,,,19764,,,
100085,Primary hepatic neuroendocrine carcinoma,Disease,Disorder,,0015072,C22.7,,C3273031,,,19760,Primary hepatic neuroendocrine carcinoma,Adult,Not applicable
675775,Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome,Disease,Disorder,,0971137,,620939,C5925096,,,,Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome,,Autosomal recessive
100084,Middle ear neuroendocrine tumor,Disease,Disorder,2F00.0,0015071,C30.1,,C4305468,,,19759,Middle ear neuroendocrine tumor,"Adolescent, Adult, Elderly",
675782,Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN,Disease,Disorder,,0971138,,620937,C5925097,,,,Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN,Infancy,Autosomal recessive
100087,Rare thyroid tumor,Category,Group of disorders,,,,,C5816813,,,,,,
675814,Adenomatoid tumour of the pleura,Disease,Disorder,,0024326,,,C5925098,,,,,,
100086,Gallbladder neuroendocrine tumor,Disease,Disorder,2C13.Y,,C23,,C3273115,,,19761,Gallbladder neuroendocrine tumor,Adult,
676039,Combined immunodeficiency due to FOXN1 haploinsufficiency,Disease,Disorder,,,D81.8,618806,C5925099,,,,Combined immunodeficiency due to FOXN1 haploinsufficiency,"Childhood, Infancy, Neonatal",Autosomal dominant
100101,Neuroendocrine tumor with other location,Category,Group of disorders,,,,,C5681808,,,19768,,,
100100,Thymic tumor,Category,Group of disorders,,0005197,,,C3714644,D013953,10056296,19767,,,
676125,X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency,Disease,Disorder,,0024770,,301074,C5575495,,,,X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency,Infancy,X-linked recessive
675976,Adenomatoid tumour of the peritoneum,Disease,Disorder,,,,,C5925148,,,,,,
100093,Carcinoid syndrome,Clinical syndrome,Disorder,5B10,0100347,E34.0,,C0024586,D008303,10007270,5994,Carcinoid syndrome,All ages,Not applicable
676030,Primary benign peritoneal tumor,Category,Group of disorders,,,,,C5925100,,,,,,
100092,Gastroenteropancreatic neuroendocrine neoplasm,Category,Group of disorders,,,,,C1333799,,,2437,,,
676033,Well-differentiated papillary mesothelial tumour of the peritoneum,Disease,Disorder,,,,,C5925101,,,,,,
676036,Peritoneal mesothelioma in situ,Disease,Disorder,,0971145,,,C5925102,,,,,,
100094,Multiple polyglandular tumor,Category,Group of disorders,2F7A.0,0015079,,,C5848154,,,19766,,,
100924,Porphyria due to ALA dehydratase deficiency,Disease,Disorder,5C58.1Y,0013000,E80.2,612740,C0268328,,,,Porphyria due to ALA dehydratase deficiency,"Adolescent, Childhood",Autosomal recessive
684216,Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome,Malformation syndrome,Disorder,,,,618798,,,,,Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome,,"Autosomal dominant, Autosomal recessive"
100932,OBSOLETE: Nuclear oculomotor paralysis,Category,Group of disorders,,,,,,,,,,,
100642,NON RARE IN EUROPE: Gonorrhea,Disease,Disorder,,,,,,,,,,,
684305,Neurooculocardiogenitourinary syndrome,Disease,Disorder,LD2F.1Y,,Q87.8,618652,,,,,Neurooculocardiogenitourinary syndrome,"Infancy, Neonatal",Autosomal dominant
100973,FRAXE intellectual disability,Disease,Disorder,LD90.Y,0010659,Q99.2,309548,C4274328,,,2378,FRAXE intellectual disability,"Antenatal, Infancy, Neonatal",X-linked recessive
100974,FRAXF syndrome,Disease,Disorder,,0015084,Q99.2,,C4274329,,,,FRAXF syndrome,"Antenatal, Infancy, Neonatal",Unknown
684290,Hypertrophic olivary degeneration,Disease,Disorder,,,,,,,,,,,
684752,Isolated anal canal duplication,Morphological anomaly,Disorder,,,,,,,,,Isolated anal canal duplication,Childhood,
684742,2q13 microdeletion syndrome,Malformation syndrome,Disorder,LD44.20,,Q93.5,,,,,,2q13 microdeletion syndrome,,Autosomal dominant
100976,Bathing suit ichthyosis,Disease,Disorder,EC20.02,0015085,Q80.2,242300,C4511230,,,,Bathing suit ichthyosis,"Infancy, Neonatal",Autosomal recessive
684232,Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome,Malformation syndrome,Disorder,,,,619229,,,,,Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome,,Autosomal dominant
684226,Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome,Malformation syndrome,Disorder,,,,617788,,,,,Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome,"Infancy, Neonatal",Autosomal dominant
684247,Isolated growth hormone deficiency type IV,Clinical subtype,Subtype of disorder,,,,618157,,,,,Isolated growth hormone deficiency type IV,,Autosomal recessive
684240,Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome,Malformation syndrome,Disorder,,,,619125,,,,,Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome,,Autosomal recessive
100054,F12-related hereditary angioedema with normal C1Inh,Clinical subtype,Subtype of disorder,4A00.14,0012526,T78.3,610618,C1857728,D056828,,,F12-related hereditary angioedema with normal C1Inh,Adult,Autosomal dominant
100051,Hereditary angioedema type 2,Etiological subtype,Subtype of disorder,4A00.14,0015054,D84.1,106100,C0398776,,,,Hereditary angioedema type 2,All ages,Autosomal dominant
100057,Renin-angiotensin-aldosterone system-blocker-induced angioedema,Disease,Disorder,EH61.1,0015057,T78.3,300909,C1268945,,,,Renin-angiotensin-aldosterone system-blocker-induced angioedema,Adult,"Multigenic/multifactorial, Not applicable"
692173,Marbach-Schaaf neurodevelopmental syndrome,Disease,Disorder,,,,619680,,,,,Marbach-Schaaf neurodevelopmental syndrome,"Infancy, Neonatal",Autosomal dominant
100056,Acquired angioedema type 1,Clinical subtype,Subtype of disorder,4A00.15,0015056,T78.3,,C5680380,,,,Acquired angioedema type 1,Adult,Not applicable
100055,Acquired angioedema type 2,Clinical subtype,Subtype of disorder,4A00.15,0015055,T78.3,,C5680381,,,,Acquired angioedema type 2,Adult,Not applicable
692271,Cerebral proliferative angiopathy,Disease,Disorder,,,,,,,,,Cerebral proliferative angiopathy,"Adolescent, Adult, Childhood",
692296,Idiopathic triglyceride deposit cardiomyovasculopathy,Etiological subtype,Subtype of disorder,,,,,,,,,Idiopathic triglyceride deposit cardiomyovasculopathy,,Unknown
692193,CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome,Malformation syndrome,Disorder,,,,616579,,,,,CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome,"Childhood, Infancy",Autosomal dominant
692256,Isolated anogenital granulomatosis,Disease,Disorder,,,,,,,,,Isolated anogenital granulomatosis,"Adolescent, Adult, Childhood, Elderly",
692812,RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome,Disease,Disorder,,,,618987,,,,,RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome,Infancy,"Autosomal dominant, Autosomal recessive"
693549,Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome,Malformation syndrome,Disorder,,,,618774,,,,,Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome,,Autosomal dominant
692305,Triglyceride deposit cardiomyovasculopathy,Disease,Disorder,,,,,,,,,Triglyceride deposit cardiomyovasculopathy,,"Autosomal recessive, Unknown"
692790,ATP6AP1-CDG,Disease,Disorder,,,,300972,,,,,ATP6AP1-CDG,"Antenatal, Infancy, Neonatal",X-linked recessive
100069,Semantic dementia,Disease,Disorder,6D83,0010857,G31.0,600274,C0338462,,,10792,Semantic dementia,Adult,"Multigenic/multifactorial, Not applicable"
693627,Agammaglobulinemia-skin involvement-failure to thrive syndrome,Disease,Disorder,,,,619693,,,,,Agammaglobulinemia-skin involvement-failure to thrive syndrome,,Autosomal recessive
100070,Progressive non-fluent aphasia,Disease,Disorder,6D83,0015059,G31.0,600274,C0751706,D057178,10029542,10793,Progressive non-fluent aphasia,Adult,"Multigenic/multifactorial, Not applicable"
100067,Waterhouse-Friderichsen syndrome,Clinical subtype,Subtype of disorder,1C1C.1,0006015,E35.1*,,C1403891,D014884,10047847,9449,,,
693681,Activated PI3K-delta syndrome 2,Disease,Disorder,,,,616005,,,,,Activated PI3K-delta syndrome 2,,Autosomal dominant
100073,Neurogenic thoracic outlet syndrome,Clinical subtype,Subtype of disorder,8B91.Y,0015061,G54.0,,C0751549,,,,Neurogenic thoracic outlet syndrome,All ages,Not applicable
100075,Neuroendocrine tumor of stomach,Disease,Disorder,2B72.1,0003111,C16.9,,C1333783,,,,Neuroendocrine tumor of stomach,"Adult, Elderly",Not applicable
693661,Activated PI3K-delta syndrome 1,Disease,Disorder,,,,615513,,,,,Activated PI3K-delta syndrome 1,,Autosomal dominant
100071,Mosaic trisomy 3 syndrome,Malformation syndrome,Disorder,LD40.Y,0015060,Q92.1,,C4707012,,,5342,Mosaic trisomy 3 syndrome,"Antenatal, Neonatal",
693647,Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome,Disease,Disorder,,,,619705,,,,,Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome,,Autosomal recessive
100072,OBSOLETE: True vascular thoracic outlet syndrome,Disease,Disorder,,,,,,,,,,,
100078,Ileal neuroendocrine tumor,Disease,Disorder,2B80.11,0015065,C17.2,,C4081841,,,,Ileal neuroendocrine tumor,Adult,Not applicable
693832,Gastrointestinal tract arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,Gastrointestinal tract arteriovenous malformation,,Not applicable
693826,Pancreatic arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,Pancreatic arteriovenous malformation,,Not applicable
100079,Neuroendocrine neoplasm of appendix,Disease,Disorder,2B81.2,0015066,D37.3,,C1879718,,,,Neuroendocrine neoplasm of appendix,Adult,
693815,Uterine arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,,,
100076,Duodenal neuroendocrine tumor,Category,Group of disorders,,,,,C4525619,,,,,,
693802,Neonatal-infantile onset epilepsy syndrome,Clinical group,Group of disorders,,,,,,,,,,,
100077,Jejunal neuroendocrine tumor,Category,Group of disorders,,,,,,,,,Jejunal neuroendocrine tumor,Adult,
100082,Neuroendocrine tumor of anal canal,Disease,Disorder,2C00.2,0015069,C21.1,,C3272849,,,,Neuroendocrine tumor of anal canal,"Adult, Elderly",
693863,Splenic arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,Splenic arteriovenous malformation,,Not applicable
693855,Visceral arteriovenous malformation,Clinical group,Group of disorders,,,,,,,,,Visceral arteriovenous malformation,,Not applicable
100083,Laryngeal neuroendocrine tumor,Disease,Disorder,2F00.2,0015070,C32.1,,C5681809,,,,Laryngeal neuroendocrine tumor,Adult,
100080,Neuroendocrine tumor of the colon,Disease,Disorder,2B90.Y,0002882,C18.8,,C1333097,,,,Neuroendocrine tumor of the colon,"Adult, Elderly",
693846,Hepatic arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,Hepatic arteriovenous malformation,,Not applicable
693839,Renal arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,,Renal arteriovenous malformation,,Not applicable
100081,Neuroendocrine tumor of the rectum,Disease,Disorder,2B92.1,0003646,C20,,C5554035,,10085767,,Neuroendocrine tumor of the rectum,Adult,
688571,Combined immunodeficiency with low immunoglobulins and normal B cells,Clinical group,Group of disorders,,,,,,,,,,,
100020,Myelodysplastic neoplasm with increased blasts type 2,Clinical subtype,Subtype of disorder,2A35,0015041,D46.2,,C4704767,,,,Myelodysplastic neoplasm with increased blasts type 2,Adult,Not applicable
100019,Myelodysplastic neoplasm with increased blasts type 1,Clinical subtype,Subtype of disorder,2A35,0015040,D46.2,,C1318550,,,,Myelodysplastic neoplasm with increased blasts type 1,Adult,Not applicable
688581,Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome,Malformation syndrome,Disorder,,,H90.3,300990,,,,,Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome,,X-linked recessive
688594,Combined immunodeficiency due to RELB deficiency,Disease,Disorder,,,D81.8,617585,,,,,Combined immunodeficiency due to RELB deficiency,Infancy,Autosomal recessive
100022,Extramedullary soft tissue plasmacytoma,Clinical subtype,Subtype of disorder,2A83.2,0015043,C90.2,,C2211567,,,,,,
688642,Turnpenny-Fry syndrome,Malformation syndrome,Disorder,LD2F.1Y,,Q87.8,618371,,,,,Turnpenny-Fry syndrome,,Autosomal dominant
100021,Primary plasmacytoma of the bone,Clinical subtype,Subtype of disorder,2A83.2,0015042,C90.3,,,,,,,,
100024,Mu-heavy chain disease,Clinical subtype,Subtype of disorder,XH2JK2,0015044,C88.2,,C0242310,,,,Mu-heavy chain disease,Adult,
688649,Isolated adrenal medullary hyperplasia,Disease,Disorder,,,,,,,,,Isolated adrenal medullary hyperplasia,,Not applicable
100026,Gamma-heavy chain disease,Clinical subtype,Subtype of disorder,2A84.1,0015046,C88.2,,C0018854,,,10346,Gamma-heavy chain disease,Adult,
100025,Alpha-heavy chain disease,Clinical subtype,Subtype of disorder,XH1Y65,0015045,C88.3,,C0021071,D007161,,,Alpha-heavy chain disease,"Adolescent, Adult",
688995,Scarlet fever,Disease,Disorder,1B50,,A38,,,,,,Scarlet fever,,Not applicable
689001,Isolated spontaneous cervical artery dissection,Disease,Disorder,,,,,,,,,,,
689021,Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome,Disease,Disorder,,,G71.8,,,,,,Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome,,Autosomal recessive
100032,Hypocalcified amelogenesis imperfecta,Clinical subtype,Subtype of disorder,LA30.6,0968955,K00.5,617607,C0399376,C562880,,,Hypocalcified amelogenesis imperfecta,,"Autosomal dominant, Autosomal recessive"
100031,Hypoplastic amelogenesis imperfecta,Clinical subtype,Subtype of disorder,LA30.6,0015047,K00.5,617297,C0399367,C538240,,645,Hypoplastic amelogenesis imperfecta,,"Autosomal dominant, Autosomal recessive, X-linked dominant"
100034,Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,Clinical subtype,Subtype of disorder,LA30.6,0007093,K00.5,104510,C0399373,,,,Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,,Autosomal dominant
100033,Hypomaturation amelogenesis imperfecta,Clinical subtype,Subtype of disorder,LA30.6,0015048,K00.5,617217,C0399372,C536606,,8349,Hypomaturation amelogenesis imperfecta,,"Autosomal recessive, X-linked dominant"
689231,IFIH1-related hereditary spastic paraplegia,Disease,Disorder,,,,615846,,,,,IFIH1-related hereditary spastic paraplegia,,Autosomal dominant
100035,Solitary necrotic nodule of the liver,Disease,Disorder,DB99.Y,0015049,K76.8,,C2960192,,,,,,
689234,RNASEH2B-related hereditary spastic paraplegia,Disease,Disorder,,,,610181,,,,,RNASEH2B-related hereditary spastic paraplegia,"Infancy, Neonatal",Autosomal recessive
689401,Acquired hypothalamic obesity,Disease,Disorder,,,E22.8,,,,,,Acquired hypothalamic obesity,,Not applicable
689397,Poirier-Bienvenu neurodevelopmental syndrome,Malformation syndrome,Disorder,,,,618732,,,,,Poirier-Bienvenu neurodevelopmental syndrome,"Infancy, Neonatal",Autosomal recessive
100039,Familial pseudohyperkalemia type 1,Clinical subtype,Subtype of disorder,,,,,,,,,,,
689408,Shashi-Pena syndrome,Malformation syndrome,Disorder,,,Q87.8,617190,,,,,Shashi-Pena syndrome,,Autosomal dominant
100040,OBSOLETE: Familial pseudohyperkalemia type 2,Clinical subtype,Subtype of disorder,,,,,,,,,,,
689430,Adenoid ameloblastoma,Disease,Disorder,2E83.1,,D16.4,,,,,,Adenoid ameloblastoma,,Not applicable
100041,"OBSOLETE: Familial pseudohyperkalemia, Cardiff type",Clinical subtype,Subtype of disorder,,,,,,,,,,,
689422,Okur-Chung neurodevelopmental syndrome,Malformation syndrome,Disorder,,,Q87.8,617062,,,,,Okur-Chung neurodevelopmental syndrome,,Autosomal dominant
100043,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,Disease,Disorder,8C20.2,0011675,G60.0,606483,C1847896,C564702,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,Adult,Autosomal dominant
100044,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,Disease,Disorder,8C20.2,0011674,G60.0,606482,C1847902,C564703,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,"Adolescent, Adult, Childhood",Autosomal dominant
100045,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,Disease,Disorder,8C20.2,0012012,G60.0,608323,C1842237,C564257,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,"Adolescent, Adult, Childhood",Autosomal dominant
689829,Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome,Disease,Disorder,,,Q11.2,615524,,,,,Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
100046,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,Disease,Disorder,8C20.2,0011909,G60.0,607791,C1843075,C564333,,,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,Adult,Autosomal dominant
689822,Structural heart defects-renal anomalies syndrome,Malformation syndrome,Disorder,LA88.Y,,Q21.8,617478,,,,,Structural heart defects-renal anomalies syndrome,"Antenatal, Neonatal",Autosomal recessive
100047,Isolated esophageal duplication cyst,Morphological anomaly,Disorder,LB12.Y,0015050,Q39.8,,C4303524,,,,,,
100048,Isolated tubular duplication of the esophagus,Morphological anomaly,Disorder,LB12.Y,0015051,Q39.8,,C4274729,,,,,,
100049,Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies,Category,Group of disorders,,,,,C5680383,,,,,,
100050,Hereditary angioedema type 1,Etiological subtype,Subtype of disorder,4A00.14,0015053,D84.1,106100,,,,,Hereditary angioedema type 1,All ages,Autosomal dominant
100016,Lissencephaly with cerebellar hypoplasia type F,Malformation syndrome,Disorder,LD20.1,0015039,Q04.3,,C4274989,,,,Lissencephaly with cerebellar hypoplasia type F,"Antenatal, Neonatal",
100015,Lissencephaly with cerebellar hypoplasia type E,Malformation syndrome,Disorder,LD20.1,0015038,Q04.3,,C5191422,,,,Lissencephaly with cerebellar hypoplasia type E,"Antenatal, Neonatal",
647667,Mandibuloacral dysplasia associated to MTX2,Malformation syndrome,Disorder,,0030880,Q87.5,619127,C5436867,,,,Mandibuloacral dysplasia associated to MTX2,Childhood,Autosomal recessive
647676,Multiple epiphyseal dysplasia type 7,Disease,Disorder,,0054680,Q77.3,617719,C4540251,,,,Multiple epiphyseal dysplasia type 7,Childhood,
646113,Intermediate collagen VI-related muscular dystrophy,Disease,Disorder,8C70.6,0958353,G71.2,158810,C5816698,,,,Intermediate collagen VI-related muscular dystrophy,,"Autosomal dominant, Autosomal recessive"
100012,Lissencephaly with cerebellar hypoplasia type B,Malformation syndrome,Disorder,LD20.1,0015035,Q04.3,,C4274993,,,,Lissencephaly with cerebellar hypoplasia type B,"Antenatal, Infancy, Neonatal",
646136,"Dysplastic cortical hyperostosis, Al-Gazali type",Clinical subtype,Subtype of disorder,,0011051,,601356,C5816699,,,,,,
100011,Lissencephaly with cerebellar hypoplasia type A,Malformation syndrome,Disorder,LD20.1,0015034,Q04.3,,C5191423,,,,Lissencephaly with cerebellar hypoplasia type A,"Antenatal, Neonatal",
646139,Dysplastic cortical hyperostosis,Malformation syndrome,Disorder,LD24.1Y,0016357,M85.8,,C5190839,,,,,,
100014,Lissencephaly with cerebellar hypoplasia type D,Malformation syndrome,Disorder,LD20.1,0015037,Q04.3,,C4274991,,,,Lissencephaly with cerebellar hypoplasia type D,"Antenatal, Neonatal",
646278,CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome,Disease,Disorder,LD90.Y,0044302,Q87.8,617360,C5816700,,,,CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome,"Childhood, Infancy",Autosomal dominant
100013,Lissencephaly with cerebellar hypoplasia type C,Malformation syndrome,Disorder,LD20.1,0015036,Q04.3,,C4274992,,,,Lissencephaly with cerebellar hypoplasia type C,Neonatal,
645854,Multifocal tuberculosis,Disease,Disorder,1B12.Y,0957465,A18.8,,C5816701,,,,,,
100008,ACys amyloidosis,Clinical subtype,Subtype of disorder,8B22.3,0007098,I68.0*,105150,C1527338,,,,ACys amyloidosis,"Adolescent, Adult",Autosomal dominant
645859,Primary tuberculosis of the digestive system,Disease,Disorder,1B12.7,0957466,A18.3,,C5816702,,,,,,
645874,Primary genito-urinary tuberculosis,Disease,Disorder,1B12.5,0957467,A18.1,,C0041333,D014401,10044828,,,,
646098,Collagen VI-related congenital muscular dystrophy,Clinical group,Group of disorders,,,,254090,C5816703,,,,,,
645807,Primary tuberculous lymphadenitis,Disease,Disorder,1B12.6,0957461,A18.2,,C5816704,,,,,,
645814,Primary pulmonary tuberculosis,Disease,Disorder,1B10,0957462,A16.8,,C0041327,D014397,,,,,
100003,Intraneural perineurioma,Disease,Disorder,2F3Y,0015032,D36.1,,C1370658,,,10921,Intraneural perineurioma,"Adolescent, Adult, Childhood",
645822,Primary bone and joint tuberculosis,Disease,Disorder,1B12.4,0957463,"A18.0,",,C5816705,,,,,,
100006,"ABeta amyloidosis, Dutch type",Clinical subtype,Subtype of disorder,8B22.3,0015033,I68.0*,605714,C2931672,,,,"ABeta amyloidosis, Dutch type",Adult,Autosomal dominant
645849,Primary cutaneous tuberculosis,Disease,Disorder,1B12.8,0957464,A18.4,,C5816706,,,,,,
645749,Congenital esophageal stenosis,Morphological anomaly,Disorder,LB12.3,0957459,Q39.3,,C1963580,,10010564,,Congenital esophageal stenosis,"Adolescent, Childhood, Infancy, Neonatal",
100000,Reticular perineurioma,Clinical subtype,Subtype of disorder,2F3Y,0015029,D36.1,,C5681810,,,,,,
645793,Spontaneous intestinal perforation,Disease,Disorder,KB84,0957460,K63.1,,C3897004,,,,,,
100001,Sclerosing perineurioma,Clinical subtype,Subtype of disorder,2F3Y,0015030,D36.1,,C5681811,,,,,,
100002,Extraneural perineurioma,Disease,Disorder,2F3Y,0015031,D36.1,,C4708595,,,,Extraneural perineurioma,"Adolescent, Adult, Childhood, Elderly, Infancy",
645617,Amyopathic dermatomyositis,Clinical subtype,Subtype of disorder,,0043317,,,C0406645,C538250,,9907,,,
99995,Complex regional pain syndrome type 1,Clinical subtype,Subtype of disorder,MG30.04,0011441,G90.5,604335,C0034931,,10064334,,Complex regional pain syndrome type 1,All ages,
645613,Classical dermatomyositis,Clinical subtype,Subtype of disorder,4A41.0,0957456,M33.1,,C5816707,,,,,,
645626,Adermatopathic dermatomyositis,Clinical subtype,Subtype of disorder,4A41.0,0957458,M33.1,,C5816708,,,,,,
645393,Hemi-myeloschisis,Clinical subtype,Subtype of disorder,,0958351,,,C5816709,,,,,,
99991,Relapsing epidemic typhus,Clinical subtype,Subtype of disorder,1C30.Y,0020571,A75.0,,C5681812,,,,,,
645388,Hemi-myelomeningocele,Clinical subtype,Subtype of disorder,,0957454,,,C5816710,,,,,,
645401,True myeloschisis,Clinical subtype,Subtype of disorder,,0958352,,,C5816711,,,,,,
645398,Myeloschisis,Morphological anomaly,Disorder,LA02.Y,958076,Q06.8,,C0266507,,,,,,
99994,Complex regional pain syndrome type 2,Clinical subtype,Subtype of disorder,MG30.04,0020572,G90.6,,C0007462,,10064335,,Complex regional pain syndrome type 2,All ages,
645367,Conus spinal cord lipoma,Clinical group,Group of disorders,,,,,C5816712,,,,,,
99987,OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
645362,Dorsal spinal cord lipoma,Morphological anomaly,Disorder,,958349,Q76.0,,,,,,,,
645383,True myelomeningocele,Clinical subtype,Subtype of disorder,,0957453,,,C5816713,,,,,,
99989,Intermediate DEND syndrome,Disease,Disorder,KB60.2Y,0020569,P70.2,,C5680423,,,,Intermediate DEND syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
645378,Myelic limited dorsal malformation,Morphological anomaly,Disorder,,970964,Q06.8,,C5816714,,,,,,
99990,Brill-Zinsser disease,Clinical subtype,Subtype of disorder,1C30.1,0005680,A75.1,,C0006181,,10038017,,,,
645354,Saccular limited dorsal myeloschisis,Morphological anomaly,Disorder,,970963,Q76.0,,C5816715,,,,,,
99986,OBSOLETE: Familial restrictive cardiomyopathy type 2,Etiological subtype,Subtype of disorder,,,,,,,,,,,
645359,Intramedullary non-dysraphic spinal cord lipoma,Morphological anomaly,Disorder,,958075,Q06.8,,C5816716,,,,,,
99985,OBSOLETE: Familial restrictive cardiomyopathy type 1,Etiological subtype,Subtype of disorder,,,,,,,,,,,
645343,Non-saccular limited dorsal myeloschisis,Morphological anomaly,Disorder,,968989,Q76.0,,C5816717,,,,,,
645350,Segmental arterial mediolysis,Disease,Disorder,BD52.0,0957452,I77.8,,C4517096,,10086467,,,,
99983,Cutaneous myiasis,Category,Group of disorders,1G01.3,0020568,B87.0,,C0027031,,,,,,
645337,Terminal myelocystocele,Morphological anomaly,Disorder,,970962,Q05.9,,C5816718,,,,,,
645340,Non-terminal myelocystocele,Morphological anomaly,Disorder,,0957451,Q05.9,,C5816719,,,,,,
99981,Apnea of prematurity,Disease,Disorder,7A40.2,0020567,P28.4,,C0475715,,,,Apnea of prematurity,"Infancy, Neonatal",Not applicable
645325,Isolated filum lipoma,Morphological anomaly,Disorder,,958347,Q76.0,,C5816720,,,,,,
645334,Retained medullary cord,Morphological anomaly,Disorder,,958348,Q76.0,,C5816811,,,,,,
645319,Saccular spinal dysraphism with a stalk to the dome,Clinical group,Group of disorders,,,,,C5816721,,,,,,
99978,Perihilar cholangiocarcinoma,Disease,Disorder,2C18.0,0003345,C24.0,,C0206702,D018285,,10175,Perihilar cholangiocarcinoma,Adult,Not applicable
645322,Isolated transitional filum lipoma,Morphological anomaly,Disorder,,0958346,Q06.8,,C5816722,,,,,,
99977,Squamous cell carcinoma of the esophagus,Disease,Disorder,2B70.1,0005580,C15.0,133239,C0279626,,10061534,,Squamous cell carcinoma of the esophagus,"Adult, Elderly","Multigenic/multifactorial, Not applicable"
645300,Lipomatous non-saccular limited dorsal myeloschisis,Histopathological subtype,Subtype of disorder,,0970960,,,C5816723,,,,,,
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,Disease,Disorder,2B70.0,0005028,C15.5,614266,C0279628,C562730,10030137,,Adenocarcinoma of the oesophagus and oesophagogastric junction,"Adult, Elderly",Not applicable
645310,Fibroneural non-saccular limited dorsal myeloschisis,Histopathological subtype,Subtype of disorder,,0970961,,,C5816724,,,,,,
645294,Posterior extramedullary conus spinal cord lipoma,Clinical subtype,Subtype of disorder,,0970959,,,C5816725,,,,,,
99974,OBSOLETE: TACI-related selective deficiency of IgA,Clinical subtype,Subtype of disorder,,,,,,,,,,,
645297,Extramedullary conus spinal cord lipoma,Morphological anomaly,Disorder,,968987,Q06.8,,C5816726,,,,,,
99973,OBSOLETE: Immunoglobulin A2 deficiency,Disease,Disorder,,,,,,,,,,,
645288,Terminal extramedullary conus spinal cord lipoma,Clinical subtype,Subtype of disorder,,0970957,,,C5816727,,,,,,
99972,OBSOLETE: Immunoglobulin A1 deficiency,Disease,Disorder,,,,,,,,,,,
645291,Transitional extramedullary conus spinal cord lipoma,Clinical subtype,Subtype of disorder,,0970958,,,C5816728,,,,,,
99971,Well-differentiated liposarcoma,Histopathological subtype,Subtype of disorder,,0005103,C49.9,,C1370889,,,,Well-differentiated liposarcoma,Adult,Not applicable
645285,Chaotic conus spinal cord lipoma,Morphological anomaly,Disorder,,968986,Q76.0,,C5816729,,,,,,
99969,Pleomorphic liposarcoma,Histopathological subtype,Subtype of disorder,,0020562,C49.9,,C0205825,,10073138,,Pleomorphic liposarcoma,Adult,Not applicable
645282,Anomaly of the filum,Clinical group,Group of disorders,,,,,C5816730,,,,,,
99970,Dedifferentiated liposarcoma,Histopathological subtype,Subtype of disorder,,0020563,C49.9,,C0205824,,10073135,,Dedifferentiated liposarcoma,Adult,Not applicable
645279,Fibrolipomatous filum anomaly,Clinical group,Group of disorders,,,,,C5816812,,,,,,
99967,Myxoid/round cell liposarcoma,Histopathological subtype,Subtype of disorder,,0020561,C49.9,613488,C0206634,D018208,,,Myxoid/round cell liposarcoma,Adult,Not applicable
645276,Spinal cord lipoma,Clinical group,Group of disorders,,0001790,,,C0347446,,10064898,,,,
645273,Dysraphic spinal cord lipoma,Clinical group,Group of disorders,,,,,C5816731,,,,,,
99965,O'Sullivan-McLeod syndrome,Disease,Disorder,,0020559,G12.8,,C2721741,,10069682,,O'Sullivan-McLeod syndrome,Adult,
645270,Open spinal dysraphism with a posterior meningocele,Clinical group,Group of disorders,,,,,C5816732,,,,,,
99966,Atypical teratoid rhabdoid tumor,Disease,Disorder,2A00.1Y,0020560,C49.9,609322,C1266184,,,,Atypical teratoid rhabdoid tumor,"Antenatal, Childhood, Infancy, Neonatal",Not applicable
645202,Closed spinal dysraphism,Clinical group,Group of disorders,LB73.0,,Q76.0,,C0080174,D016136,10041525,,,,
645196,Limited dorsal myeloschisis,Clinical group,Group of disorders,,,,,C5781237,,,,,,
99961,Benign recurrent intrahepatic cholestasis type 2,Clinical subtype,Subtype of disorder,5C58.04,0011559,K83.1,605479,C2608083,,,10029,Benign recurrent intrahepatic cholestasis type 2,,Autosomal recessive
645193,Dysraphism with stalk,Clinical group,Group of disorders,,,,,C5816733,,,,,,
645188,Spinal dermal sinus,Morphological anomaly,Disorder,,958344,Q76.0,,C5706141,,,,,,
99960,Benign recurrent intrahepatic cholestasis type 1,Clinical subtype,Subtype of disorder,5C58.04,0009469,K83.1,243300,C4551899,,,10028,Benign recurrent intrahepatic cholestasis type 1,,Autosomal recessive
643549,Hao-Fountain syndrome,Disease,Disorder,,0014805,Q87.0,616863,C5393908,,,,Hao-Fountain syndrome,"Infancy, Neonatal",
643538,Hao-Fountain syndrome due to USP7 mutation,Etiological subtype,Subtype of disorder,,0958071,,616863,C5816734,,,,,,
643503,Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome,Disease,Disorder,,0060532,Q87.8,617602,C5816735,,,,Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome,Neonatal,
99955,Charcot-Marie-Tooth disease type 4B1,Disease,Disorder,8C20.0,0011066,G60.0,601382,C1832399,C535420,,,Charcot-Marie-Tooth disease type 4B1,"Infancy, Neonatal",Autosomal recessive
99956,Charcot-Marie-Tooth disease type 4B2,Disease,Disorder,8C20.0,0011475,G60.0,604563,C1858278,C535421,,9200,Charcot-Marie-Tooth disease type 4B2,Childhood,Autosomal recessive
99948,Charcot-Marie-Tooth disease type 4A,Disease,Disorder,8C20.0,0008961,G60.0,214400,C1859198,C535419,,,Charcot-Marie-Tooth disease type 4A,"Infancy, Neonatal",Autosomal recessive
99947,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,Disease,Disorder,8C20.1,0012231,G60.0,609260,C4721887,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,Childhood,Autosomal dominant
99950,Charcot-Marie-Tooth disease type 4D,Disease,Disorder,8C20.0,0011085,G60.0,601455,C1832334,C535716,,,Charcot-Marie-Tooth disease type 4D,"Adolescent, Childhood",Autosomal recessive
649929,Central precocious puberty in male,Clinical group,Group of disorders,,,,,C5816736,,,,,,
99949,Charcot-Marie-Tooth disease type 4C,Disease,Disorder,8C20.0,0011113,G60.0,601596,C1866636,C535423,,,Charcot-Marie-Tooth disease type 4C,Childhood,Autosomal recessive
99952,Charcot-Marie-Tooth disease type 4F,Disease,Disorder,8C20.0,0013959,G60.0,614895,C2608082,,,,Charcot-Marie-Tooth disease type 4F,Childhood,Autosomal recessive
99951,Charcot-Marie-Tooth disease type 4E,Disease,Disorder,8C20.0,0011527,G60.0,605253,C4721437,C535301,,,Charcot-Marie-Tooth disease type 4E,"Infancy, Neonatal",Autosomal recessive
99954,Charcot-Marie-Tooth disease type 4H,Disease,Disorder,8C20.0,0012250,G60.0,609311,C1836336,C563740,,,Charcot-Marie-Tooth disease type 4H,Infancy,Autosomal recessive
99953,Charcot-Marie-Tooth disease type 4G,Disease,Disorder,8C20.0,0011534,G60.0,605285,C1854449,C535813,,10132,Charcot-Marie-Tooth disease type 4G,"Adolescent, Childhood",Autosomal recessive
648992,Non-syndromic bridging bronchus,Morphological anomaly,Disorder,,0958267,Q32.4,,C5816737,,,,Non-syndromic bridging bronchus,"Antenatal, Infancy, Neonatal",
99940,Autosomal dominant Charcot-Marie-Tooth disease type 2F,Disease,Disorder,8C20.1,0011687,G60.0,606595,C1847823,C535413,,9194,Autosomal dominant Charcot-Marie-Tooth disease type 2F,"Adolescent, Adult, Elderly",Autosomal dominant
99939,Autosomal dominant Charcot-Marie-Tooth disease type 2E,Disease,Disorder,8C20.1,0011894,G60.0,607684,C1843225,C537994,,,Autosomal dominant Charcot-Marie-Tooth disease type 2E,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
649010,Non-syndromic congenital bronchial atresia,Morphological anomaly,Disorder,,0958268,Q32.4,,C5816738,,,,Non-syndromic congenital bronchial atresia,Adult,
99942,Autosomal dominant Charcot-Marie-Tooth disease type 2I,Disease,Disorder,8C20.1,0011889,G60.0,607677,C3888087,C535416,,,Autosomal dominant Charcot-Marie-Tooth disease type 2I,Adult,Autosomal dominant
649014,Bronchial malformation,Clinical group,Group of disorders,,,,,C5816739,,,,,,
99941,Autosomal dominant Charcot-Marie-Tooth disease type 2G,Disease,Disorder,,,,,C1837805,,,,,,
649017,Rare adrenocortical nodular disease,Clinical group,Group of disorders,,,,,C5816740,,,,,,
99944,Autosomal dominant Charcot-Marie-Tooth disease type 2K,Disease,Disorder,8C20.1,0020558,G60.0,607831,C1842984,C564325,,,Autosomal dominant Charcot-Marie-Tooth disease type 2K,"Adolescent, Adult, Childhood",Autosomal dominant
649029,Isolated left bronchial isomerism,Morphological anomaly,Disorder,,958269,Q32.4,,C5816741,,,,Isolated left bronchial isomerism,"Adult, Elderly",
99943,Autosomal dominant Charcot-Marie-Tooth disease type 2J,Disease,Disorder,8C20.1,0011903,G60.0,607736,C1843153,C535417,,,Autosomal dominant Charcot-Marie-Tooth disease type 2J,Adult,Autosomal dominant
99946,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,Disease,Disorder,8C20.1,0007308,G60.0,118210,C1861678,C566138,,1248,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,Childhood,Autosomal dominant
99945,Autosomal dominant Charcot-Marie-Tooth disease type 2L,Disease,Disorder,8C20.1,0012096,G60.0,608673,C4304673,,,,Autosomal dominant Charcot-Marie-Tooth disease type 2L,"Adolescent, Adult",Autosomal dominant
99931,Idiopathic pulmonary hemosiderosis,Disease,Disorder,CB04.30,,J99.8*,235500,C0020807,C536281,,6763,Idiopathic pulmonary hemosiderosis,Childhood,
648684,Central retinal artery occlusion,Disease,Disorder,9B74.0,0001633,H34.1,,C0007688,,,,Central retinal artery occlusion,All ages,
99932,Heiner syndrome,Disease,Disorder,CB05.5,0020554,J99.8*,,C3873343,,,,Heiner syndrome,Infancy,
648919,Idiopathic catatonia,Disease,Disorder,,0957487,F20.2,,C5816742,,,,,,
99933,Pleuropulmonary blastoma type 1,Clinical subtype,Subtype of disorder,2C25.Y,0020555,C34.9,,C5681813,,,,,,
99934,Pleuropulmonary blastoma type 2,Clinical subtype,Subtype of disorder,2C25.Y,0020556,C34.8,,C5681814,,,,,,
99935,Pleuropulmonary blastoma type 3,Clinical subtype,Subtype of disorder,2C25.Y,0020557,C34.1,,C5681815,,,,,,
99936,Autosomal dominant Charcot-Marie-Tooth disease type 2B,Disease,Disorder,8C20.1,0010949,G60.0,600882,C1833219,C537989,,9192,Autosomal dominant Charcot-Marie-Tooth disease type 2B,"Adolescent, Adult",Autosomal dominant
99937,Autosomal dominant Charcot-Marie-Tooth disease type 2C,Disease,Disorder,8C20.1,0011633,G60.0,606071,C1853710,C565261,,,Autosomal dominant Charcot-Marie-Tooth disease type 2C,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
99938,Autosomal dominant Charcot-Marie-Tooth disease type 2D,Disease,Disorder,8C20.1,0011091,G60.0,601472,C1832274,C537993,,,Autosomal dominant Charcot-Marie-Tooth disease type 2D,"Adolescent, Adult",Autosomal dominant
648562,Ferroportin disease,Disease,Disorder,5C64.10,,E83.1,606069,C1853733,,,,,,
648559,Rare scleritis,Clinical group,Group of disorders,,,,,C5816743,,,,,,
648581,Digenic hemochromatosis,Disease,Disorder,5C64.10,958085,E83.1,,C5816744,,,,,,
99925,Invasive mole,Disease,Disorder,2F76,0020549,D39.2,,C0008493,D002820,,,Invasive mole,Adult,Not applicable
648569,Non-HFE-related hemochromatosis,Clinical group,Group of disorders,,,,,C5816745,,,,,,
99926,Gestational choriocarcinoma,Disease,Disorder,2C75.0,0020550,C58,,C0349557,,,,Gestational choriocarcinoma,Adult,Not applicable
648665,Infectious scleritis,Disease,Disorder,9B51,958264,H15.0,,C5816746,,,,,,
99927,Hydatidiform mole,Disease,Disorder,JA02,0006248,O01.9,614293,C0020217,D006828,10020481,10263,Hydatidiform mole,"Adolescent, Adult","Autosomal recessive, Not applicable"
99928,Placental site trophoblastic tumor,Disease,Disorder,XH1RM5,0020552,D39.2,,C0206666,D018245,,7403,Placental site trophoblastic tumor,Adult,Not applicable
648681,Immune-mediated scleritis,Disease,Disorder,9B51,0958266,H15.0,,C5578029,,10087281,,Immune-mediated scleritis,All ages,
648675,Idiopathic scleritis,Disease,Disorder,9B51,0958265,H15.0,,C5816747,,,,,,
99930,Secondary pulmonary hemosiderosis,Disease,Disorder,CB05.5,0020553,J99.8*,,C4274326,,,,,,
99918,Streptococcal toxic-shock syndrome,Etiological subtype,Subtype of disorder,1C45.0,0020544,A48.3,,C0343532,,10044251,,Streptococcal toxic-shock syndrome,All ages,Not applicable
99917,"Theca steroid-producing cell malignant tumor of ovary, not further specified",Disease,Disorder,2C73.Y,0020543,C56,,C4274494,,,,"Theca steroid-producing cell malignant tumor of ovary, not further specified",Adult,
99916,Malignant Sertoli-Leydig cell tumor of the ovary,Disease,Disorder,2C73.Y,0020542,C56,,C5574973,,,5495,Malignant Sertoli-Leydig cell tumor of the ovary,"Adolescent, Adult, Childhood, Elderly",
99915,Malignant granulosa cell tumor of the ovary,Disease,Disorder,2C73.2,0020541,C56,,C0346175,D006106,,,Malignant granulosa cell tumor of the ovary,"Adolescent, Adult, Elderly",Multigenic/multifactorial
99922,Ocular cicatricial pemphigoid,Disease,Disorder,9A62,8109,H13.3*,,C1282359,,10067776,8759,,,
99921,Chronic graft versus host disease,Clinical subtype,Subtype of disorder,4B24.1,0020547,T86.0,,C0867389,,10066261,10964,Chronic graft versus host disease,All ages,
99920,Acute graft versus host disease,Clinical subtype,Subtype of disorder,4B24.0,0020546,T86.0,,C0856825,,10066260,6544,,,
99919,Staphylococcal toxic-shock syndrome,Etiological subtype,Subtype of disorder,1C45.1,0020545,A48.3,,C3714602,,10044250,,Staphylococcal toxic-shock syndrome,All ages,Not applicable
99909,OBSOLETE: Occupational allergic alveolitis,Clinical group,Group of disorders,,,,,,,,,,,
99908,OBSOLETE: Pigeon-breeder lung disease,Disease,Disorder,,,,,,,,,,,
99907,OBSOLETE: House allergic alveolitis,Disease,Disorder,,,,,,,,,,,
99914,Gynandroblastoma,Disease,Disorder,XH0Q64,20540,D40.1,,C0018413,,,9665,,,
99913,Extragonadal non-dysgerminomatous germ cell tumor,Category,Group of disorders,,0020539,,,C5681817,,,,,,
99912,Ovarian dysgerminoma,Disease,Disorder,2C73.1,0020538,C56,,C0346185,,,,Ovarian dysgerminoma,Adolescent,Unknown
647815,Keratitis fugax hereditaria,Disease,Disorder,9C61.25,0007849,H16.8,148200,C1835697,,,,Keratitis fugax hereditaria,,Autosomal dominant
99901,Acyl-CoA dehydrogenase 9 deficiency,Disease,Disorder,5C52.01,0012624,E71.3,611126,C1970173,C567006,10081518,,Acyl-CoA dehydrogenase 9 deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
647811,Cardiac-urogenital syndrome,Disease,Disorder,,0032653,Q87.8,618280,C4748946,,,,Cardiac-urogenital syndrome,,Autosomal dominant
647804,Combined immunodeficiency due to FCHO1 deficiency,Disease,Disorder,,0030898,D81.8,619164,C5816748,,,,Combined immunodeficiency due to FCHO1 deficiency,,Autosomal recessive
99900,Long chain acyl-CoA dehydrogenase deficiency,Disease,Disorder,,,,,C0220711,C535690,,,,,
647916,Conjoined twins,Malformation syndrome,Disorder,LD2G,958083,Q89.4,,C0041428,D014428,10010688,,,,
99905,Streptobacillary rat-bite fever,Etiological subtype,Subtype of disorder,1B90.1,0020533,A25.1,,C0152063,,,,Streptobacillary rat-bite fever,All ages,
99906,OBSOLETE: Farmer's lung disease,Disease,Disorder,,,,,,,,,,,
647834,SLC40A1-related hemochromatosis,Disease,Disorder,5C64.10,0011631,E83.1,606069,C5816749,,,,SLC40A1-related hemochromatosis,,Autosomal dominant
99903,Spirillary rat-bite fever,Etiological subtype,Subtype of disorder,1B90.0,0020532,A25.0,,C0152062,,,,Spirillary rat-bite fever,All ages,
647823,Idiopathic pregnancy-associated osteoporosis,Disease,Disorder,FB83.1Y,0957481,O26.8,,C5782297,,,,,,
647772,Isolated primary pigmented nodular adrenocortical disease,Disease,Disorder,5A70.Y,958262,E24.8,610475,C5816750,,,,,,
99893,OBSOLETE: ACTH-independent Cushing syndrome,Clinical group,Group of disorders,,,,,,,,,,,
647768,Rare adrenocortical nodular disease with Cushing syndrome as a major feature,Clinical group,Group of disorders,,,,,C5816751,,,,,,
647758,Adrenal Cushing syndrome,Clinical group,Group of disorders,,,,,C0342443,,,,,,
647681,Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome,Malformation syndrome,Disorder,,0957473,Q87.0,600775,C5816752,,,,,,
99892,ACTH-dependent Cushing syndrome,Clinical group,Group of disorders,,0020528,E24.0,,C0342442,,,,,,
647799,MYT1L-related developmental delay-intellectual disability-obesity syndrome,Disease,Disorder,,0957477,Q87.1,616521,C5816753,,,,MYT1L-related developmental delay-intellectual disability-obesity syndrome,,Autosomal dominant
647794,Isolated persistent urogenital sinus,Morphological anomaly,Disorder,,0957476,Q52.8,,C5816754,,,,,,
99898,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,Disease,Disorder,4A00.2,0020530,D84.8,209950,C4011949,C535530,,9185,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,"Infancy, Neonatal",Autosomal recessive
647788,Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome,Disease,Disorder,,0060622,G11.8,617804,C5816755,,,,,,
647782,Isolated micronodular adrenocortical disease,Disease,Disorder,5A70.Y,958263,E24.8,610489,C5816756,,,,,,
99879,Familial isolated hyperparathyroidism,Disease,Disorder,5A51.0,0015027,E21.0,617343,C4551961,C564166,10080773,,Familial isolated hyperparathyroidism,Adult,Autosomal dominant
656283,Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency,Disease,Disorder,,958115,D82.4,619751,C5925103,,,,Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency,,Autosomal recessive
656279,1p36.33 duplication syndrome,Disease,Disorder,LD41.01,0032933,Q92.3,618815,C5925104,,,,1p36.33 duplication syndrome,,Not applicable
99880,Hyperparathyroidism-jaw tumor syndrome,Disease,Disorder,5A51.0,0007768,E21.0,145001,C1704981,,,10829,Hyperparathyroidism-jaw tumor syndrome,"Adolescent, Adult",Autosomal dominant
656313,Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency,Disease,Disorder,,958117,D82.4,619752,C5925105,,,,Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency,,Autosomal dominant
656300,Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency,Disease,Disorder,,958116,D82.4,618523,C5925106,,,,Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency,,Autosomal recessive
99875,OBSOLETE: Ehlers-Danlos syndrome type 7A,Etiological subtype,Subtype of disorder,,,,,,,,,,,
656130,PBX1-related congenital anomalies of kidney-urinary tract syndrome,Disease,Disorder,,0060549,Q87.8,617641,C5925107,,,,PBX1-related congenital anomalies of kidney-urinary tract syndrome,,Autosomal dominant
99876,OBSOLETE: Ehlers-Danlos syndrome type 7B,Etiological subtype,Subtype of disorder,,,,,,,,,,,
656126,Segmental spinal dysgenesis,Disease,Disorder,,0958275,Q76.0,,C5891176,,,,,,
99877,OBSOLETE: Familial parathyroid adenoma,Disease,Disorder,,,,,,,,,,,
656273,OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome,Malformation syndrome,Disorder,,,,,,,,,,,
99878,OBSOLETE: Primary parathyroid hyperplasia,Disease,Disorder,,,,,,,,,,,
656135,Intellectual disability-cupped ears syndrome,Disease,Disorder,,0032830,Q87.0,618604,C5231424,,,,Intellectual disability-cupped ears syndrome,,Autosomal dominant
99887,Acute megakaryoblastic leukemia in children with Down syndrome,Clinical subtype,Subtype of disorder,2A60.41,0020526,C94.2,,C5925108,,,,Acute megakaryoblastic leukemia in children with Down syndrome,Childhood,Not applicable
658540,16q22 deletion syndrome,Malformation syndrome,Disorder,,0013798,Q93.5,614541,C5925109,,,,,,
99888,NON RARE IN EUROPE: Adrenocortical adenoma,Disease,Disorder,,,,,,,,,,,
656912,Autosomal dominant combined immunodeficiency due to ERBIN deficiency,Disease,Disorder,,958120,D82.4,,C5925110,,,,Autosomal dominant combined immunodeficiency due to ERBIN deficiency,,Autosomal dominant
99889,Cushing syndrome due to ectopic ACTH secretion,Disease,Disorder,5A70.1,0020527,E24.3,,C0001231,,,,Cushing syndrome due to ectopic ACTH secretion,"Adult, Elderly",Not applicable
658549,Idiopathic small fibers neuropathy,Disease,Disorder,,0958122,G90.0,,C5925111,,,,,,
656417,Embryonal tumor with multilayered rosettes,Disease,Disorder,XH0KZ2,0958119,C71.9,,C5575350,,,,,,
656326,Autosomal recessive combined immunodeficiency due to IL6R deficiency,Disease,Disorder,,0958118,D82.4,618944,C5925112,,,,Autosomal recessive combined immunodeficiency due to IL6R deficiency,,Autosomal recessive
99885,Isolated permanent neonatal diabetes mellitus,Disease,Disorder,KB60.2Y,0100164,P70.2,618857,C1833104,C563425,,10457,Isolated permanent neonatal diabetes mellitus,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
99886,Transient neonatal diabetes mellitus,Disease,Disorder,KB60.20,,P70.2,610582,C0342273,,,1839,Transient neonatal diabetes mellitus,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
99864,OBSOLETE: Classic seminoma,Clinical subtype,Subtype of disorder,,,,,,,,,,,
653712,CHD4-related neurodevelopmental disorder,Disease,Disorder,,0014946,Q87.8,617159,C4310688,,,,CHD4-related neurodevelopmental disorder,"Childhood, Infancy",Autosomal dominant
653722,Digenic Alport syndrome,Clinical subtype,Subtype of disorder,,0958104,,,C5925113,,,,Digenic Alport syndrome,,"Autosomal dominant, Autosomal recessive"
99866,OBSOLETE: Metastatic spermatocytic seminoma,Clinical subtype,Subtype of disorder,,,,,,,,,,,
653725,"Autosomal recessive limb-girdle muscular dystrophy, type 28",Disease,Disorder,,0957270,G71.0,620375,C5830518,,,,"Autosomal recessive limb-girdle muscular dystrophy, type 28","Adolescent, Adult, Childhood",Autosomal recessive
99865,Spermatocytic seminoma,Disease,Disorder,XH80D1,0020513,C62.9,273300,C0334517,,10073118,,Spermatocytic seminoma,"Adolescent, Adult",Unknown
653728,"Congenital insensitivity to pain syndrome, Marsili type",Disease,Disorder,,0958106,G90.8,147430,C4538468,,,,"Congenital insensitivity to pain syndrome, Marsili type","Childhood, Infancy, Neonatal",Autosomal dominant
99860,Precursor B-cell acute lymphoblastic leukemia,Disease,Disorder,2A70,0020511,C91.0,615545,C0349636,,10066109,,Precursor B-cell acute lymphoblastic leukemia,Childhood,Not applicable
99859,OBSOLETE: Posttraumatic syringomyelia,Clinical subtype,Subtype of disorder,,,,,,,,,,,
653434,Autoinflammatory syndrome with acne and/or hidradenitis suppurativa,Clinical group,Group of disorders,,,,,C5925114,,,,,,
653698,Lymphocytic mastitis,Disease,Disorder,GB21.Y,0958101,N61,,C2931521,,,,,,
99861,Precursor T-cell acute lymphoblastic leukemia,Disease,Disorder,2A71,0020512,C91.0,,C1961099,D054218,,,Precursor T-cell acute lymphoblastic leukemia,"Adolescent, Adult",Not applicable
653709,Cone rod dystrophy-short stature syndrome,Disease,Disorder,9B70,,H35.5,617547,C5925115,,,,Cone rod dystrophy-short stature syndrome,Childhood,Autosomal recessive
99872,OBSOLETE: Hashimoto-Pritzker syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
99871,OBSOLETE: Eosinophilic granuloma,Clinical subtype,Subtype of disorder,,,,,,,,,,,
99874,OBSOLETE: Adult pulmonary Langerhans cell histiocytosis,Clinical subtype,Subtype of disorder,,,,,,,,,,,
656071,Atrophic papulosis,Disease,Disorder,,0958110,I77.8,,,,,,Atrophic papulosis,Adult,
656085,Benign atrophic papulosis,Clinical subtype,Subtype of disorder,,0958274,,,C5891170,,,,,,
99873,OBSOLETE: Hand-Schüller-Christian disease,Clinical subtype,Subtype of disorder,,,,,,,,,,,
99868,Thymic carcinoma,Disease,Disorder,2C27.0,0006451,C37,,C0205969,,10061031,,Thymic carcinoma,Adult,Not applicable
653751,X-linked combined immunodeficiency due to SASH3 deficiency,Disease,Disorder,,0024781,D81.8,301082,C5925116,,,,X-linked combined immunodeficiency due to SASH3 deficiency,"Adolescent, Adult, Childhood",X-linked recessive
99867,Thymoma,Disease,Disorder,2C27.Y,0006456,D15.0,274230,C0040100,D013945,10043670,,Thymoma,Adult,Not applicable
653767,Jansen-de Vries syndrome,Disease,Disorder,,0044318,Q87.0,617450,C4479517,,,,Jansen-de Vries syndrome,Infancy,Autosomal dominant
653880,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,Disease,Disorder,,14563,E71.1,616277,C4225391,,,,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
99870,OBSOLETE: Letterer-Siwe disease,Clinical subtype,Subtype of disorder,,,,,,,,,,,
99869,Thymic neuroendocrine carcinoma,Disease,Disorder,2C27.1,0020516,C37,,C2210965,,,,Thymic neuroendocrine carcinoma,Adult,Not applicable
652519,Cleft palate-congenital heart defect-intellectual disability syndrome,Disease,Disorder,,0958091,Q87.8,,C5924219,,,,,,
99849,Glycogen storage disease due to muscle beta-enolase deficiency,Disease,Disorder,5C51.3,0013046,E74.0,612932,C5566614,,,2125,Glycogen storage disease due to muscle beta-enolase deficiency,Adult,Autosomal recessive
652514,Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation,Clinical subtype,Subtype of disorder,,0958273,,600987,C5925117,,,,Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation,,Autosomal dominant
652510,Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa,Clinical group,Group of disorders,,,,,C5925118,,,,,,
652487,Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome,Malformation syndrome,Disorder,,0957397,Q87.3,620439,C5924786,,,,Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome,,Autosomal dominant
99845,Genetic recurrent myoglobinuria,Disease,Disorder,5C5Y,0020504,R82.1,550500,C4274324,,,,Genetic recurrent myoglobinuria,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable"
650187,Rare peripheral precocious puberty in female,Clinical group,Group of disorders,,,,,C5816757,,,,,,
99846,Autosomal dominant myoglobinuria,Disease,Disorder,5C5Y,0008046,R82.1,160010,C1834567,C563546,,,Autosomal dominant myoglobinuria,No data available,Autosomal dominant
650182,Genetic central precocious puberty,Clinical group,Group of disorders,,,,,C5816758,,,,,,
99843,Leukocyte adhesion deficiency type II,Clinical subtype,Subtype of disorder,5C54.2,0009953,D84.8,266265,C0398739,C535755,,4634,Leukocyte adhesion deficiency type II,"Childhood, Infancy",Autosomal recessive
650102,Non-genetic central precocious puberty in male,Clinical subtype,Subtype of disorder,,0968991,,,C5816759,,,,,,
99844,Leukocyte adhesion deficiency type III,Clinical subtype,Subtype of disorder,4A00.0Y,0013016,D84.8,612840,C2748536,C567555,,,Leukocyte adhesion deficiency type III,"Childhood, Infancy",Autosomal recessive
99857,Secondary syringomyelia,Disease,Disorder,8D66.1,0020509,G95.0,,C4749399,,,,Secondary syringomyelia,Adult,
652681,Idiopathic subglottic stenosis,Disease,Disorder,CA0H.5,0958099,J38.6,,C5925119,,,,,,
652678,Primary inferior vena cava aneurysm,Morphological anomaly,Disorder,,0958098,Q26.8,,C5925120,,,,,,
99858,Idiopathic syringomyelia,Clinical subtype,Subtype of disorder,8D66.0,0020510,G95.0,,C4511700,,,,,,
652668,Primary superior vena cava aneurysm,Malformation syndrome,Disorder,,958097,Q26.8,,C5925121,,,,,,
99856,Primary syringomyelia,Morphological anomaly,Disorder,LA07.3,0020508,Q06.4,,C1299627,,,,,,
652658,Monomorphic epitheliotropic intestinal T-cell lymphoma,Disease,Disorder,2A90.7,0958096,C86.2,,C3272525,,,,,,
99853,Ovarioleukodystrophy,Clinical subtype,Subtype of disorder,8A44.3,,E75.2,615889,C1847967,,10089277,,Ovarioleukodystrophy,"Adolescent, Adult, Childhood",Autosomal recessive
652650,"Nodal T-follicular helper cell lymphoma, follicular type",Disease,Disorder,,0958095,C82.7,,C2700204,,,,,,
652532,Adult-onset progressive leukoencephalopathy-early-onset deafness,Disease,Disorder,,0958094,G37.8,619196,C5921954,,,,Adult-onset progressive leukoencephalopathy-early-onset deafness,Adult,Autosomal recessive
99854,Cree leukoencephalopathy,Clinical subtype,Subtype of disorder,8A44.3,,E75.2,603896,,,,,Cree leukoencephalopathy,,Autosomal recessive
652528,Supernumerary kidney,Morphological anomaly,Disorder,LB30.5,0958093,Q63.0,,C5925122,,,,Supernumerary kidney,Neonatal,
99852,Ravine syndrome,Disease,Disorder,8A44.3,0020505,E75.2,,C4275006,,,,Ravine syndrome,Infancy,Autosomal recessive
652522,Periodic fever-immunodeficiency-thrombocytopenia syndrome,Disease,Disorder,,0007883,D84.8,150550,,,,,Periodic fever-immunodeficiency-thrombocytopenia syndrome,,Autosomal recessive
99832,Resistance to thyrotropin-releasing hormone syndrome,Disease,Disorder,5A00.01,0032819,E03.1,618573,C1861106,,,,Resistance to thyrotropin-releasing hormone syndrome,Infancy,Autosomal recessive
99831,OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect,Etiological subtype,Subtype of disorder,,,,,,,,,,,
99829,Yellow fever,Disease,Disorder,1D47,0020502,A95.9,,C0043395,D015004,10048240,7914,Yellow fever,All ages,
99828,Dengue fever,Disease,Disorder,1D22,0005502,A97.1,614371,C0011311,D003715,10012310,6254,Dengue fever,All ages,Not applicable
99827,Crimean-Congo hemorrhagic fever,Disease,Disorder,1D49,0020501,A98.0,,C0019099,D006479,10010685,,Crimean-Congo hemorrhagic fever,All ages,
650092,Secondary central precocious puberty in male,Disease,Disorder,5A60.3,0958357,E22.8,,C5816760,,,,,,
99842,Leukocyte adhesion deficiency type I,Clinical subtype,Subtype of disorder,4A00.0Y,0007293,D84.8,116920,C0398738,C535887,10090483,6893,Leukocyte adhesion deficiency type I,"Childhood, Infancy",Autosomal recessive
650097,Genetic central precocious puberty in male,Clinical subtype,Subtype of disorder,,0968990,,176400,C5816761,,,,,,
650082,Secondary central precocious puberty in female,Disease,Disorder,5A60.3,0958355,E22.8,,C5816762,,,,,,
650087,Primary central precocious puberty in male,Disease,Disorder,5A60.3,0958356,E22.8,,C5816763,,,,,,
650070,Rare central precocious puberty in female,Clinical group,Group of disorders,,,,,C5816764,,,,,,
650077,Genetic central precocious puberty in female,Disease,Disorder,,0958354,E22.8,615346,C5816765,,,,,,
650063,Rare central precocious puberty,Clinical group,Group of disorders,,,,,C5816766,,,,,,
99811,Neuronal intestinal pseudoobstruction,Etiological subtype,Subtype of disorder,DA90.2,8000011,K59.8,243185,C1855733,C537394,,3928,Neuronal intestinal pseudoobstruction,All ages,X-linked recessive
660017,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome,Disease,Disorder,,0859257,G24.1,619911,C5925123,,,,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome,"Childhood, Infancy",Autosomal dominant
660012,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation,Etiological subtype,Subtype of disorder,,0971062,,619911,C5925124,,,,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation,,Autosomal dominant
99812,LIG4 syndrome,Disease,Disorder,4A01.1Y,0011686,D81.1,606593,C1847827,C564694,,,LIG4 syndrome,"Infancy, Neonatal",Autosomal recessive
660021,Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0971064,Q87.0,,C5925125,,,,,,
660053,Psittacosis,Disease,Disorder,1C22,0005888,A70,,C0029291,,10037151,,,,
661526,MBD4-related tumor predisposition syndrome,Disease,Disorder,,0859267,C18.8,619975,C5925126,,,,MBD4-related tumor predisposition syndrome,Adult,Autosomal recessive
99817,Non-polyposis Turcot syndrome,Clinical subtype,Subtype of disorder,,,,,,,,,,,
661412,Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency,Disease,Disorder,3A02.Y,0971066,D52.8,620603,C5925127,,,,Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency,"Infancy, Neonatal",
99818,Turcot syndrome with polyposis,Clinical subtype,Subtype of disorder,,0020497,,,C5681818,,,,,,
662172,Phelan-McDermid syndrome due to SHANK3 mutation,Etiological subtype,Subtype of disorder,LD44.NY,0971069,Q93.5,606232,C5925128,,,,Phelan-McDermid syndrome due to SHANK3 mutation,,Autosomal dominant
99819,Familial gestational hyperthyroidism,Disease,Disorder,5A02.Y,0011309,E05.8,603373,C1863959,C566384,,,Familial gestational hyperthyroidism,"Adolescent, Adult",Autosomal dominant
662169,Phelan-McDermid syndrome due to 22q13.3 deletion,Etiological subtype,Subtype of disorder,LD44.NY,0971068,Q93.5,606232,C1853490,,,,Phelan-McDermid syndrome due to 22q13.3 deletion,,Not applicable
662179,Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,,0032942,Q87.0,618828,C5394218,,,,Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome,Infancy,Autosomal dominant
662175,Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,,0032943,Q87.0,618829,C5394221,,,,Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome,Neonatal,Autosomal dominant
662189,Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome,Malformation syndrome,Disorder,,0859297,Q87.0,620073,C5925129,,,,Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome,"Infancy, Neonatal",Autosomal dominant
662184,Congenital muscular dystrophy-cataract-intellectual disability syndrome,Disease,Disorder,,0024607,G71.0,617404,C5925130,,,,Congenital muscular dystrophy-cataract-intellectual disability syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
99824,Lassa fever,Disease,Disorder,1D61.2,0005820,A96.2,,C0023092,D007835,10023927,,Lassa fever,All ages,
662198,Neurodevelopmental delay-intellectual disability-skeletal defects syndrome,Malformation syndrome,Disorder,,0010512,Q87.5,300986,C5925131,,,,Neurodevelopmental delay-intellectual disability-skeletal defects syndrome,"Infancy, Neonatal",X-linked dominant
99825,Nipah virus disease,Disease,Disorder,1D63,0020499,A98.8,,C1320202,,,,Nipah virus disease,All ages,
99826,Marburg hemorrhagic fever,Disease,Disorder,1D60.1,0020500,A98.3,,C0024788,D008379,10026822,9444,Marburg hemorrhagic fever,All ages,
659707,Yersinia pseudotuberculosis infection,Disease,Disorder,1B9A,,A28.2,,C0043410,,,,,,
99796,Subcortical band heterotopia,Morphological anomaly,Disorder,LD20.1,0020491,Q04.3,607432,C1848201,,,1904,Subcortical band heterotopia,,"Autosomal recessive, Unknown, X-linked recessive"
659712,Rare yersiniosis,Category,Group of disorders,,,,,C5925132,,,,,,
99798,Oligodontia,Morphological anomaly,Disorder,LA30.2,5486,K00.0,610926,C4082304,,10088239,,Oligodontia,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
99797,Anodontia,Morphological anomaly,Disorder,LA30.0,0008797,K00.0,206780,C0399352,D000848,10002583,5818,,,
659744,Ocular surface squamous neoplasia,Disease,Disorder,,0971056,D48.7,,C4761284,,10082449,,Ocular surface squamous neoplasia,"Adolescent, Adult, Childhood, Elderly",
659756,Oroya fever,Clinical subtype,Subtype of disorder,1C11.00,0018984,A44.0,,C0029307,,,,,,
659759,Verruga peruana,Clinical subtype,Subtype of disorder,1C11.01,0971058,A44.1,,C0042552,,10080438,,,,
99802,Hemimegalencephaly,Malformation syndrome,Disorder,LA05.1,0020492,Q04.5,,C0431391,D065705,10078100,2637,Hemimegalencephaly,Infancy,Not applicable
659873,Wormian bones-micrognathia-abnormal dentition-progeroid syndrome,Malformation syndrome,Disorder,,0859147,Q87.5,619322,C5543388,,,,Wormian bones-micrognathia-abnormal dentition-progeroid syndrome,"Infancy, Neonatal",Autosomal dominant
99803,Haddad syndrome,Malformation syndrome,Disorder,LD2F.1Y,0020493,G47.3,209880,C1859049,,,,Haddad syndrome,"Infancy, Neonatal","Autosomal dominant, Multigenic/multifactorial"
99806,Oculootodental syndrome,Malformation syndrome,Disorder,,0020494,K07.8,166750,C2750325,,,,Oculootodental syndrome,Infancy,
659904,Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome,Malformation syndrome,Disorder,,0971007,Q87.8,619539,C5925133,,,,Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome,,Autosomal dominant
99807,PEHO-like syndrome,Disease,Disorder,,0020495,G93.4,617507,C1850056,,,,PEHO-like syndrome,"Infancy, Neonatal",Autosomal recessive
659908,Glanders,Disease,Disorder,1B92,0005774,A24.0,,C0017589,,10069747,,,,
99810,Familial porencephaly,Etiological subtype,Subtype of disorder,LA05.60,0020496,Q04.6,614483,C1867983,C536850,,2258,Familial porencephaly,"Infancy, Neonatal",Autosomal dominant
659975,Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome,Malformation syndrome,Disorder,,0859206,H91.8,619616,C5925134,,,,Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome,,Autosomal recessive
659396,Cohen-Gibson syndrome,Malformation syndrome,Disorder,,60510,Q87.3,617561,C4479654,,,,Cohen-Gibson syndrome,"Antenatal, Neonatal",Autosomal dominant
99781,OBSOLETE: Familial articular chondrocalcinosis type 1,Clinical subtype,Subtype of disorder,,,,,,,,,,,
99782,OBSOLETE: Familial articular chondrocalcinosis type 2,Clinical subtype,Subtype of disorder,,,,,,,,,,,
659387,PRC-2 complex-related overgrowth spectrum,Clinical group,Group of disorders,,,,,C5925135,,,,,,
658951,Early-onset immune dysregulation due to DOCK11 complete deficiency,Disease,Disorder,,958138,D89.8,301109,C5925136,,,,Early-onset immune dysregulation due to DOCK11 complete deficiency,"Childhood, Infancy",X-linked recessive
659626,Single isolated optic neuritis,Clinical subtype,Subtype of disorder,,0971049,,,C5925137,,,,,,
659609,Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome,Malformation syndrome,Disorder,,0032820,Q04.8,618577,C5925138,,,,Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome,"Antenatal, Neonatal",Autosomal dominant
659463,Imagawa-Matsumoto syndrome,Malformation syndrome,Disorder,,32916,Q87.3,618786,C5394073,,,,Imagawa-Matsumoto syndrome,"Antenatal, Neonatal",Autosomal dominant
659672,Harderoporphyria,Disease,Disorder,5C58.1Y,30048,E80.2,618892,C0342859,,,,Harderoporphyria,Neonatal,Autosomal recessive
99789,Dentin dysplasia type I,Clinical subtype,Subtype of disorder,LA30.7,0007436,K00.5,,C0399379,C538215,,1807,Dentin dysplasia type I,Childhood,"Autosomal dominant, Autosomal recessive"
659642,Rauch-Steindl syndrome,Malformation syndrome,Disorder,,859219,,619695,C5562061,,,,Rauch-Steindl syndrome,Antenatal,
659634,Relapsing isolated optic neuritis,Clinical subtype,Subtype of disorder,,0971050,,,C5925139,,,,,,
659702,Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome,Malformation syndrome,Disorder,,0014948,Q87.1,617164,C5925140,,,,Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome,"Antenatal, Neonatal",
659698,Hepatic cutaneous porphyria,Clinical group,Group of disorders,,,,,,,,,,,
659694,Hepatic porphyria,Clinical group,Group of disorders,,,,,C0162533,,,,,,
99791,Dentin dysplasia type II,Clinical subtype,Subtype of disorder,LA30.7,0007437,K00.5,125420,C0399380,,,1806,Dentin dysplasia type II,,Autosomal dominant
659681,Erythropoietic porphyria,Clinical group,Group of disorders,,,,,C0162530,,,,,,
99792,Dentin dysplasia-sclerotic bones syndrome,Disease,Disorder,LA30.7,0007438,K00.5,125440,C4749611,C538213,,1808,Dentin dysplasia-sclerotic bones syndrome,Infancy,
658584,Rowell syndrome,Disease,Disorder,4A40.0Y,0041186,M32.8,,C0406637,,,,Rowell syndrome,Adult,
658590,Eyelid sebaceous carcinoma,Disease,Disorder,2C33,21588,D04.1,,C5925141,,,,Eyelid sebaceous carcinoma,Elderly,
99764,OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2,Etiological subtype,Subtype of disorder,,,,,,,,,,,
99763,OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1,Etiological subtype,Subtype of disorder,,,,,,,,,,,
658574,Isolated pulmonary artery sling,Morphological anomaly,Disorder,LA8B.Y,958123,Q25.7,,C1856123,,,,,,
658612,Non-transplant-related bronchiolitis obliterans,Disease,Disorder,CA26.0,958128,J44.8,,C5925142,,,,,,
658778,COQ7-related distal hereditary motor neuropathy,Disease,Disorder,,958129,G60.0,620402,C5925143,,,,COQ7-related distal hereditary motor neuropathy,,Autosomal recessive
658595,DNMT3A-related microcephalic dwarfism,Malformation syndrome,Disorder,,0032882,Q87.1,618724,C5231475,,,,DNMT3A-related microcephalic dwarfism,"Antenatal, Neonatal",Autosomal dominant
658602,Transplant-related bronchiolitis obliterans,Disease,Disorder,CA26.0,958127,Y83.0,,C5574736,,10083303,,,,
658813,Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency,Disease,Disorder,5C63.1,0060611,E88.8,617780,C4540434,,,,Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency,Infancy,Autosomal recessive
658843,Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome,Malformation syndrome,Disorder,,,Q87.0,617330,C5925144,,,,Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
99772,Cleft velum,Morphological anomaly,Disorder,LA42.1,0007338,Q35.3,119570,C0432098,C562950,,,Cleft velum,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
658805,Greig cephalopolysyndactyly-contiguous gene syndrome,Malformation syndrome,Disorder,,958130,Q87.0,175700,C5925145,,,,Greig cephalopolysyndactyly-contiguous gene syndrome,Antenatal,
658810,Atrophoderma of Pasini and Pierini,Disease,Disorder,EE7Y,0022513,L90.3,,C3887897,,10066406,,Atrophoderma of Pasini and Pierini,Adult,
99771,Bifid uvula,Morphological anomaly,Disorder,LA42.2,0008637,Q35.7,,C4551488,,,,Bifid uvula,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
658917,Clonorchiasis,Disease,Disorder,1F80,0005705,B66.1,,C0009021,,10009344,,,,
99777,Achalasia-alacrimia syndrome,Disease,Disorder,,,,,,C536009,,,,,
658946,Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency,Disease,Disorder,,958137,D89.8,301109,C5925146,,,,Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency,,X-linked recessive
658909,Fasciolopsiasis,Disease,Disorder,1F83,4672,B66.5,,C0015656,,10016235,,,,
99776,Mosaic trisomy 9 syndrome,Malformation syndrome,Disorder,LD40.Y,0020490,Q92.1,,C2930908,C535454,,43,Mosaic trisomy 9 syndrome,"Infancy, Neonatal",
658913,Paragonimiasis,Disease,Disorder,1F85,5895,B66.4,,C0030424,,10033794,,,,
631073,Autosomal recessive spastic paraplegia type 82,Disease,Disorder,8B44.01,0032906,G11.4,618770,C5816767,,,,Autosomal recessive spastic paraplegia type 82,"Childhood, Infancy",Autosomal recessive
631076,Autosomal recessive spastic paraplegia type 83,Disease,Disorder,8B44.01,0033614,G11.4,619027,C5816768,,,,Autosomal recessive spastic paraplegia type 83,"Adolescent, Childhood",Autosomal recessive
631079,Autosomal recessive spastic paraplegia type 84,Disease,Disorder,8B44.01,0858989,G11.4,619621,C5816769,,,,Autosomal recessive spastic paraplegia type 84,"Childhood, Infancy",Autosomal recessive
631082,Autosomal recessive spastic paraplegia type 85,Disease,Disorder,8B44.01,0858990,G11.4,619686,C5816770,,,,Autosomal recessive spastic paraplegia type 85,"Childhood, Infancy",Autosomal recessive
631068,Autosomal dominant spastic paraplegia type 80,Disease,Disorder,8B44.00,0032737,G11.4,618418,C5816771,,,,Autosomal dominant spastic paraplegia type 80,"Adolescent, Childhood",Autosomal dominant
631106,Spinocerebellar ataxia type 49,Disease,Disorder,8A03.16,0030805,G11.4,619806,C5816772,,,,Spinocerebellar ataxia type 49,"Adolescent, Adult, Childhood",Autosomal dominant
631103,Spinocerebellar ataxia type 48,Disease,Disorder,8A03.16,0032526,G11.4,618093,C5816773,,,,Spinocerebellar ataxia type 48,Adult,Autosomal dominant
631095,Spinocerebellar ataxia type 44,Disease,Disorder,8A03.16,0033479,G11.4,617691,C5816774,,,,Spinocerebellar ataxia type 44,Adult,Autosomal dominant
631088,Autosomal recessive spastic paraplegia type 87,Disease,Disorder,8B44.01,0858992,G11.4,,C5816775,,,,Autosomal recessive spastic paraplegia type 87,"Childhood, Infancy",Autosomal recessive
631085,Autosomal recessive spastic paraplegia type 86,Disease,Disorder,8B44.01,0858991,G11.4,619735,C5816776,,,,Autosomal recessive spastic paraplegia type 86,"Childhood, Infancy",Autosomal recessive
631251,Cancer of unknown primary site,Disease,Disorder,,0858997,C80.0,,C0220647,,,,,,
631248,Mitchell Syndrome,Disease,Disorder,,0030073,G60.8,618960,C5394554,,,,Mitchell Syndrome,,Autosomal dominant
626609,Rare andrological tumor,Category,Group of disorders,,,,,C5816777,,,,,,
634475,Mosaic NF2-related schwannomatosis,Disease,Disorder,LD2D.11,0859764,Q85.0,101000,C5816778,,,,Mosaic NF2-related schwannomatosis,"Infancy, Neonatal",
634492,Mosaic schwannomatosis,Disease,Disorder,,0859765,Q85.0,,C5816779,,,,Mosaic schwannomatosis,"Infancy, Neonatal",
634511,Mosaic Legius syndrome,Disease,Disorder,LD27.Y,0859007,Q85.0,,C5816780,,,,,,
634518,Neurofibromatosis/schwannomatosis,Category,Group of disorders,,0859008,,,C5816781,,,,,,
634461,Mosaic neurofibromatosis type 1,Disease,Disorder,LD2D.1Y,0859763,Q85.0,,C5782097,,,,Mosaic neurofibromatosis type 1,"Infancy, Neonatal",
633228,Isolated proximal femoral focal deficiency,Morphological anomaly,Disorder,,0859006,Q74.8,,C0431996,,,,Isolated proximal femoral focal deficiency,Neonatal,
637064,Isolated optic nerve aplasia,Morphological anomaly,Disorder,LA13.71,958342,Q07.8,,C5816782,,,,Isolated optic nerve aplasia,"Infancy, Neonatal",
637061,Isolated optic nerve hypoplasia,Morphological anomaly,Disorder,LA13.70,8136,Q07.8,,C4510723,C563492,,,,,
636970,Autosomal recessive myosin storage myopathy,Clinical subtype,Subtype of disorder,8C72.0Y,0009708,G72.8,255160,C1850709,,,,Autosomal recessive myosin storage myopathy,,Autosomal recessive
636965,Autosomal dominant myosin storage myopathy,Clinical subtype,Subtype of disorder,8C72.0Y,0008409,G72.8,608358,C5848107,,,,Autosomal dominant myosin storage myopathy,,Autosomal dominant
637051,Borna virus encephalitis,Disease,Disorder,1C80,0957421,A85.8,,C5816783,,,,Borna virus encephalitis,"Adolescent, Adult, Elderly",
637013,SMARCA2-related blepharophimosis-intellectual disability syndrome,Malformation syndrome,Disorder,,0859139,Q87.0,619293,C5816784,,,,SMARCA2-related blepharophimosis-intellectual disability syndrome,"Adolescent, Childhood, Infancy",Autosomal dominant
636945,Invasive candidiasis,Disease,Disorder,1F23.3,0044067,B37.8,,C0153252,C536777,,,Invasive candidiasis,"Adult, Elderly, Infancy",
636941,Vascular Ehlers-Danlos-polymicrogyria syndrome,Disease,Disorder,LD28.1Y,0032688,Q79.6,618343,C5816785,,,,Vascular Ehlers-Danlos-polymicrogyria syndrome,"Infancy, Neonatal",
636955,Endemic pemphigus foliaceus,Disease,Disorder,EB40.1,43257,L10.3,,C0263314,C535551,,,Endemic pemphigus foliaceus,All ages,
636950,Glaucomatocyclitic crisis disease,Disease,Disorder,9C61.24,0004772,H40.4,,C0152138,,,,Glaucomatocyclitic crisis disease,"Adolescent, Adult",
641613,Endogenous Cushing syndrome,Category,Group of disorders,,0957431,,,C5419158,,,,,,
641829,Neonatal compartment syndrome,Clinical syndrome,Disorder,NF0A.6,0957432,P01.8,,C5782100,,,,Neonatal compartment syndrome,Neonatal,
641496,Childhood-onset schizophrenia,Disease,Disorder,,0957430,F20.5,,C0036346,D012561,,,Childhood-onset schizophrenia,"Adolescent, Childhood",
641390,PsAPASH syndrome,Disease,Disorder,EB21,0958257,L88,,C5816786,,,,PsAPASH syndrome,Adult,
641396,Central nervous system tuberculosis,Disease,Disorder,1B11,0005696,G63.0*,,C0275904,D020306,10061391,,,,
641380,PAPASH syndrome,Disease,Disorder,EB21,0958343,L88,,C5816787,,,,PAPASH syndrome,"Adolescent, Adult",
641385,PASS syndrome,Disease,Disorder,EB21,0958256,L88,,C5816788,,,,PASS syndrome,Adult,
641375,B-lymphoblastic leukemia/lymphoma with t(17;19),Etiological subtype,Subtype of disorder,2A70.Y,0957428,,,C5816789,,,,,,
641368,Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency,Disease,Disorder,4A01.34,0957426,D82.4,618282,C5924853,,,,Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency,Infancy,Autosomal recessive
641372,B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2),Etiological subtype,Subtype of disorder,2A70.Y,0957427,,,C5816790,,,,,,
641353,Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome,Disease,Disorder,,0033613,G93.4,619026,C5816791,,,,Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome,"Infancy, Neonatal",
641361,Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome,Disease,Disorder,,0859200,G11.1,619576,C5816792,,,,Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome,Infancy,Autosomal recessive
641343,Imprinting disorders,Clinical group,Group of disorders,,,,,C5816793,D000096803,,,,,
641350,Immunotherapy induced hypophysitis,Disease,Disorder,5A61.0,0957423,E23.1,,C5816794,,,,Immunotherapy induced hypophysitis,All ages,
642976,Perrault syndrome type 2,Clinical subtype,Subtype of disorder,,0013972,,,C5816795,,,,,,
642965,Autosomal recessive ataxia due to PEX2 deficiency,Disease,Disorder,8A03.1Y,0957443,G11.8,,C5816796,,,,Autosomal recessive ataxia due to PEX2 deficiency,"Adolescent, Childhood",Autosomal recessive
642954,Autosomal recessive ataxia due to PEX16 deficiency,Disease,Disorder,8A03.1Y,0957442,G11.8,,C5816797,,,,Autosomal recessive ataxia due to PEX16 deficiency,,Autosomal recessive
642945,Perrault syndrome type 1,Clinical subtype,Subtype of disorder,,0009300,,,C5816798,,,,,,
642788,Cushing syndrome due to cortisol-producing adrenocortical adenoma,Disease,Disorder,5A70.Y,958258,E24.8,,C5816799,,,,,,
642763,Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation,Malformation syndrome,Disorder,,0044323,Q87.8,617537,C4479637,,,,Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation,"Childhood, Infancy",Autosomal dominant
642747,PUM1-related cerebellar ataxia,Disease,Disorder,8A03.1Y,0033482,G11.2,617931,C5816800,,,,PUM1-related cerebellar ataxia,Adult,Autosomal dominant
642737,OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature,Malformation syndrome,Disorder,,,,,,,,,,,
642691,Fragile X-associated primary ovarian insufficiency,Disease,Disorder,,0010706,E28.3,311360,C4552079,,,,,,
642675,CHD8 overgrowth syndrome,Disease,Disorder,,0014017,Q87.3,615032,C5816801,,,,CHD8 overgrowth syndrome,No data available,Autosomal dominant
642671,Familial hyperaldosteronism type IV,Disease,Disorder,5A72.0,0014875,E26.0,617027,C4310756,,,,Familial hyperaldosteronism type IV,"Adult, Childhood",
642099,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",Disease,Disorder,LD24.3,0010075,Q77.7,271640,C4017377,,,,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type","Infancy, Neonatal",
642085,EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity,Disease,Disorder,LD24.3,0032724,Q77.7,618395,C5193073,,,,EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity,"Infancy, Neonatal",
642071,Primary pulmonary vein stenosis,Disease,Disorder,LA86.3,0957433,Q26.8,,C0265915,,,,,,
642013,OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor,Clinical group,Group of disorders,,,,,,,,,,,
632603,Mesomelic dysplasia-digital anomalies-intellectual disability syndrome,Malformation syndrome,Disorder,,0858998,Q87.8,619297,C5816803,,,,Mesomelic dysplasia-digital anomalies-intellectual disability syndrome,"Infancy, Neonatal",
633021,SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome,Clinical subtype,Subtype of disorder,LD90.Y,0859761,Q87.8,619080,C5436756,,,,SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome,,Autosomal recessive
633024,SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome,Clinical subtype,Subtype of disorder,LD90.Y,0859762,Q87.8,619083,C5436771,,,,SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome,,Autosomal dominant
633004,KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome,Disease,Disorder,,0858999,Q87.8,618846,C5394263,,,,KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome,"Infancy, Neonatal",Autosomal dominant
633014,SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome,Disease,Disorder,LD90.Y,0859000,Q87.8,619083,C5816806,,,,SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome,"Adolescent, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
633211,Preaxial digit brachydactyly-webbed fingers,Malformation syndrome,Disorder,,0859005,Q73.8,,C5816807,,,,,,
633124,Invasive scopulariopsis infection,Disease,Disorder,1F2Y,0859004,B48.7,,C5816808,,,,Invasive scopulariopsis infection,"Adolescent, Adult, Childhood, Elderly",
633035,Intellectual disability-early-onset cataract-microcephaly syndrome,Malformation syndrome,Disorder,,0859002,Q87.8,619255,C5543241,,,,Intellectual disability-early-onset cataract-microcephaly syndrome,Infancy,
633028,CPE-related Prader-Willi-like syndrome,Disease,Disorder,,0859001,Q87.8,,C5543403,,,,CPE-related Prader-Willi-like syndrome,"Childhood, Infancy",
633099,PAICS deficiency,Malformation syndrome,Disorder,,0859003,E79.8,619859,C1291561,,,,,,
633076,"Split cord malformation, composite type",Morphological anomaly,Disorder,LA07.1,,Q06.2,,C5816809,,,,,,
615938,Spastic paraparesis-cataracts-speech delay syndrome,Clinical syndrome,Disorder,,0036212,E71.3,619338,C5543440,,,,Spastic paraparesis-cataracts-speech delay syndrome,,Autosomal dominant
615943,Granuloma faciale,Disease,Disorder,EF40.20,0035879,L92.2,,C0239495,,10063944,,,,
615986,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster,Etiological subtype,Subtype of disorder,LD20.0Y,0036218,Q04.8,618810,C5680385,,,,,,
615970,Chronic intervillositis of unknown etiology,Disease,Disorder,JA86.4,0035882,O43.8,,C5680386,,,,Chronic intervillositis of unknown etiology,"Adolescent, Adult",
615983,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation,Etiological subtype,Subtype of disorder,LD20.0Y,0036217,Q04.8,618810,C5681819,,,,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation,,Autosomal recessive
615954,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,Clinical syndrome,Disorder,LD20.0Y,0032931,Q04.8,618810,C5680387,,,,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,"Antenatal, Neonatal",
615964,Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,Disease,Disorder,,0032716,G93.4,618384,C5193068,,,,Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,"Adult, Childhood",
617449,Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome,Disease,Disorder,LA11.Y,0850050,Q13.8,,C5681820,,,,,,
617408,Classic eosinophilic pustular folliculitis,Disease,Disorder,,0850048,L73.8,,C0406305,,10052834,,Classic eosinophilic pustular folliculitis,"Adolescent, Adult",
617440,Painful legs and moving toes syndrome,Clinical syndrome,Disorder,,0850049,G25.8,,C5680388,,10089938,12706,Painful legs and moving toes syndrome,Adult,
617307,Rare disorder related to monochorionic twin pregnancy,Category,Group of disorders,,,,,C5681821,,,,,,
617304,Amniotic fluid embolism,Disease,Disorder,JB42.1,0850046,O88.1,,C0013927,D004619,,,Amniotic fluid embolism,Adult,
617313,Rare disorder due to inadequate sharing of the placenta,Category,Group of disorders,,,,,C5681822,,,,,,
617310,Rare disorder due to unbalanced inter-twin blood transfusion,Category,Group of disorders,,,,,C5681823,,,,,,
617294,Twin anemia-polycythemia sequence,Disease,Disorder,KA02.4,0850013,O43.0,,C5576360,,,,Twin anemia-polycythemia sequence,Antenatal,
616874,Rare disorder without a determined diagnosis after full investigation,Disease,Disorder,,,,,,,,,,,
617301,Selective intrauterine growth restriction,Disease,Disorder,KA20.1Y,0850015,P02.2,,C5681824,,,,Selective intrauterine growth restriction,Antenatal,
617297,Twin-reversed arterial perfusion sequence,Disease,Disorder,KA02.4,0850014,O43.0,,C5575500,,,,Twin-reversed arterial perfusion sequence,Antenatal,
621758,Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,Disease,Disorder,CB0Y,0850090,G31.8,618278,C4748939,,,,Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,"Infancy, Neonatal",
620371,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,Disease,Disorder,GB90.4Y,0850089,E88.8,,C5680390,,,,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,All ages,
620368,EGF-related primary hypomagnesemia with intellectual disability,Disease,Disorder,GB90.4Y,0850088,E83.4,,C5681825,,,,EGF-related primary hypomagnesemia with intellectual disability,"Childhood, Infancy",
620363,Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,Disease,Disorder,GB90.4Y,0850087,E83.4,616418,C5681826,,,,Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
620217,Bartter syndrome type 1,Clinical subtype,Subtype of disorder,GB90.43,0100344,E26.8,601678,C1866495,C537652,,,,,
620220,Bartter syndrome type 2,Clinical subtype,Subtype of disorder,GB90.43,0009424,E26.8,241200,C1855849,C537651,,,,,
620205,Non-syndromic bicoronal and sagittal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850083,Q75.0,,C5680391,,,,Non-syndromic bicoronal and sagittal craniosynostosis,Neonatal,
620212,Non-syndromic pansynostosis,Morphological anomaly,Disorder,LB70.0Y,0850084,Q75.0,,C5680392,,,,Non-syndromic pansynostosis,Neonatal,
620192,Non-syndromic metopic and sagittal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850081,Q75.0,,C5680393,,,,Non-syndromic metopic and sagittal craniosynostosis,Neonatal,
620198,Non-syndromic bicoronal and metopic craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850082,Q75.0,,C5680394,,,,Non-syndromic bicoronal and metopic craniosynostosis,Neonatal,
620178,Non-syndromic bilambdoid craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850079,Q75.0,,C5680395,,,,Non-syndromic bilambdoid craniosynostosis,Neonatal,
620186,Non-syndromic unicoronal and sagittal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850080,Q75.0,,C5680396,,,,Non-syndromic unicoronal and sagittal craniosynostosis,Neonatal,
620152,Non-syndromic multisutural craniosynostosis,Clinical group,Group of disorders,,0850077,,,C5680397,,,,,,
620158,Non-syndromic non-specific multisutural craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850078,Q75.0,,C5680398,,,,Non-syndromic non-specific multisutural craniosynostosis,Neonatal,
620139,Non-syndromic unifrontosphenoidal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850075,Q75.0,,C5680399,,,,Non-syndromic unifrontosphenoidal craniosynostosis,Neonatal,
620146,Non-syndromic unisquamosal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850076,Q75.0,,C5680400,,,,Non-syndromic unisquamosal craniosynostosis,Neonatal,
620102,Non-syndromic unicoronal craniosynostosis,Morphological anomaly,Disorder,LB70.00,0850073,Q75.0,,C5680401,,,,Non-syndromic unicoronal craniosynostosis,Neonatal,
620113,Non-syndromic unilambdoid craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850074,Q75.0,,C5680402,,,,Non-syndromic unilambdoid craniosynostosis,Neonatal,
620096,Non-syndromic unisutural craniosynostosis,Clinical group,Group of disorders,,0850072,,,C5680403,,,,,,
624268,Non-specific autoimmune cerebellar ataxia without characteristic antibodies,Disease,Disorder,,0850109,G31.8,,C5576703,,,,Non-specific autoimmune cerebellar ataxia without characteristic antibodies,All ages,
624259,Non-specific autoimmune cerebellar ataxia with characteristic antibodies,Disease,Disorder,,0850108,G31.8,,C5680404,,,,,,
624199,Non-specific autoimmune brainstem encephalitis with characteristic antibodies,Disease,Disorder,,0850105,G04.8,,C5680405,,,,Non-specific autoimmune brainstem encephalitis with characteristic antibodies,All ages,
624190,Paraneoplastic isolated brainstem encephalitis,Disease,Disorder,8E4A.0,0850104,G04.8,,C5680406,,,,Paraneoplastic isolated brainstem encephalitis,All ages,
624244,Postinfectious cerebellitis,Disease,Disorder,,0850107,G04.8,,C5575321,,,,Postinfectious cerebellitis,All ages,
624216,Non-specific autoimmune brainstem encephalitis without characteristic antibodies,Disease,Disorder,,0850106,G04.8,,C5680407,,,,Non-specific autoimmune brainstem encephalitis without characteristic antibodies,All ages,
623789,Body integrity dysphoria,Disease,Disorder,6C21,0850100,F45.2,,C4546282,,,,Body integrity dysphoria,"Adolescent, Childhood",
623801,Acute flaccid myelitis,Disease,Disorder,,0100115,G04.8,,C4290000,C000629404,10082097,13142,Acute flaccid myelitis,"Adolescent, Adult, Childhood, Infancy",
624166,Non-specific autoimmune supratentorial encephalitis with characteristic antibodies,Disease,Disorder,,0850102,G04.8,,C5680408,,,,Non-specific autoimmune supratentorial encephalitis with characteristic antibodies,All ages,
624178,Non-specific autoimmune supratentorial encephalitis without characteristic antibodies,Disease,Disorder,,0850103,G04.8,,C5680409,,,,Non-specific autoimmune supratentorial encephalitis without characteristic antibodies,All ages,
623615,Autoimmune limbic encephalitis,Disease,Disorder,8E4A.0,0850097,G04.8,,C2930824,C531729,,,Autoimmune limbic encephalitis,All ages,
623626,Paraneoplastic cerebellar degeneration,Disease,Disorder,8E4A.0,0044877,G31.8,,C0393534,D020362,,,Paraneoplastic cerebellar degeneration,All ages,
623638,Immune-mediated cerebellar ataxia,Clinical group,Group of disorders,,0859692,,,C5680410,,,,,,
623695,MIR140-related spondyloepiphyseal dysplasia,Malformation syndrome,Disorder,LD24.3,0850099,Q77.7,618618,C5680411,,,,,,
622925,X-linked severe syndromic thoracic aortic aneurysm and dissection,Malformation syndrome,Disorder,,0850095,I71.1,300989,C4310811,,,,X-linked severe syndromic thoracic aortic aneurysm and dissection,"Adolescent, Childhood, Infancy",
622934,SBDS-related severe neonatal spondylometaphyseal dysplasia,Malformation syndrome,Disorder,LD24.4,0850096,Q77.7,,C5680412,,,,,,
622014,Autoimmune encephalitis,Clinical group,Group of disorders,,0020640,,,C5671289,,10072378,11979,,,
622099,Superior mesenteric artery syndrome,Disease,Disorder,DA52.Y,0002687,K31.5,,C0038828,D013478,10054156,7712,,,
622720,Genetic autoinflammatory syndrome with skin involvement,Category,Group of disorders,,,,,C5681827,,,,,,
622914,Rare genetic nevus,Category,Group of disorders,,,,,C5681828,,,,,,
618899,Acid sphingomyelinase deficiency,Clinical group,Group of disorders,,,,,C5243927,,,,,,
618891,Chronic neurovisceral acid sphingomyelinase deficiency,Disease,Disorder,,0850058,E75.2,,C5539139,,,,Chronic neurovisceral acid sphingomyelinase deficiency,"Infancy, Neonatal",
617910,Conjunctival malignant melanoma,Disease,Disorder,2D00.0,0002096,C69.0,,C0346360,,10066384,10744,,,
617916,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,Disease,Disorder,2F00.Y,0022986,J84.8,,C1333291,,10082591,10780,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,"Adult, Elderly",
617919,F12-associated cold autoinflammatory syndrome,Disease,Disorder,EB01.1,0850053,L50.2,,C5681829,,,,F12-associated cold autoinflammatory syndrome,Neonatal,Autosomal dominant
617930,Hemophilia B Leyden,Clinical subtype,Subtype of disorder,3B11.Y,0850054,D67,,C5848256,,10016077,,,,
619941,Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency,Disease,Disorder,,0850067,D71,618847,C5680413,,,,Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency,"Infancy, Neonatal",Autosomal recessive
619367,SAMD9L-associated autoinflammatory syndrome,Disease,Disorder,4A60.Y,0850066,D89.8,,C5680414,,,,SAMD9L-associated autoinflammatory syndrome,Neonatal,Not applicable
619953,Familial hyperinflammatory lymphoproliferative immunodeficiency,Disease,Disorder,,0850069,D89.8,618982,C5680415,,,,Familial hyperinflammatory lymphoproliferative immunodeficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
619948,Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency,Disease,Disorder,,0850068,D84.8,619375,C5680416,,,,Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency,"Adolescent, Childhood, Infancy",Autosomal dominant
619979,Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,Disease,Disorder,,0850071,E72.1,617744,C5681830,,,,Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,"Infancy, Neonatal",Autosomal dominant
619972,CADINS disease,Disease,Disorder,,0850070,D81.8,617638,C5680417,,,,CADINS disease,,Autosomal dominant
619249,Rare hereditary connective tissue disease,Category,Group of disorders,,,,,C5681831,,,,,,
619284,Narcolepsy,Clinical group,Group of disorders,,0021107,,,C0027404,D009290,10028713,,,,
619340,Inherited hematologic cancer-predisposing syndrome,Category,Group of disorders,,0850064,,,C5681832,,,,,,
619363,NOCARH syndrome,Disease,Disorder,4A01.23,0850065,D76.1,,C5925147,,,,NOCARH syndrome,"Infancy, Neonatal",Autosomal dominant
619360,NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin,Biological anomaly,Disorder,,,D56.4,,,,,,,,
619233,Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,Disease,Disorder,3A50.4,0850059,Q87.8,617101,C4310833,,10090512,,Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,"Infancy, Neonatal",Autosomal dominant
619238,Rare hereditary autoinflammatory disease,Category,Group of disorders,,,,,C5816810,,,,,,
