OrphaCode,Name,DisorderType,DisorderGroup,ICD-11,MONDO,ICD-10,OMIM,UMLS,MeSH,MedDRA,GARD
166024,Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome,Disease,Disorder,LD24.61,0011778,Q77.3,607131,C4304500,,,
166032,Multiple epiphyseal dysplasia-miniepiphyses syndrome,Disease,Disorder,LD24.61,0012254,Q77.3,609325,C5924992,C563735,,
58,Alexander disease,Disease,Disorder,8A44.2,0008752,G93.8,203450,C0270726,D038261,10083059,5774
166029,Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome,Disease,Disorder,LD24.61,0012253,Q77.3,609324,C5924993,C563736,,
61,Alpha-mannosidosis,Disease,Disorder,5C56.21,0009561,E77.1,248500,C0024748,D008363,10083855,6968
166038,"Metaphyseal chondrodysplasia, Kaitila type",Disease,Disorder,LD24.7,0009594,Q78.5,250230,C1855217,C565400,,
166035,Brachydactyly-short stature-retinitis pigmentosa syndrome,Malformation syndrome,Disorder,,0009598,Q87.8,250410,C5190709,,,
93,Aspartylglucosaminuria,Disease,Disorder,5C56.21,0008830,E77.1,208400,C0268225,D054880,10068220,5854
585,Multiple sulfatase deficiency,Disease,Disorder,5C56.0Y,0010088,E75.2,272200,C0268263,D052517,,5061
118,Beta-mannosidosis,Disease,Disorder,5C56.21,0009562,E77.1,248510,C4048196,D044905,,869
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
166063,Pontocerebellar hypoplasia type 4,Malformation syndrome,Disorder,LD20.01,0009166,Q04.3,225753,C1856974,C536716,,343
166078,Von Willebrand disease type 1,Clinical subtype,Subtype of disorder,3B12,0008668,D68.0,193400,C1264039,D056725,,
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
213,Cystinosis,Disease,Disorder,5C60.1,0016239,E72.0,219900,C4316899,D003554,10011777,6236
166084,Von Willebrand disease type 2A,Clinical subtype,Subtype of disorder,3B12,0015628,D68.0,613554,C1282968,,,
333,Farber disease,Disease,Disorder,5C56.0Y,0009218,E75.2,228000,C0268255,D055577,10083960,6426
166081,Von Willebrand disease type 2,Clinical subtype,Subtype of disorder,3B12,0013304,D68.0,613554,C1264040,D056728,,
349,Fucosidosis,Disease,Disorder,5C56.21,0009254,E77.1,230000,C0016788,D005645,,6473
166090,Von Willebrand disease type 2M,Clinical subtype,Subtype of disorder,3B12,0015630,D68.0,613554,C1282974,,,
365,Glycogen storage disease due to acid maltase deficiency,Disease,Disorder,5C51.3,0009290,E74.0,232300,C0017921,D006009,10053185,5714
166087,Von Willebrand disease type 2B,Clinical subtype,Subtype of disorder,3B12,0015629,D68.0,613554,C1282971,,,
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,Disease,Disorder,5C51.3,0009291,E74.0,232400,C0017922,D006010,10053250,9442
166093,Von Willebrand disease type 2N,Clinical subtype,Subtype of disorder,3B12,0015631,D68.0,613554,C1282975,,,
368,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,Disease,Disorder,5C51.3,0009293,E74.0,232600,C0017924,D006012,10018462,6528
166096,Von Willebrand disease type 3,Clinical subtype,Subtype of disorder,3B12,0010191,D68.0,277480,C1264041,D056729,,
367,Glycogen storage disease due to glycogen branching enzyme deficiency,Disease,Disorder,5C51.3,0009292,E74.0,263570,C0017923,D006011,10053249,2520
166100,Autosomal dominant otospondylomegaepiphyseal dysplasia,Malformation syndrome,Disorder,LD2F.1Y,0008490,Q87.0,184840,C1861481,C537494,,
371,Glycogen storage disease due to muscle phosphofructokinase deficiency,Disease,Disorder,5C51.3,0009295,E74.0,232800,C0017926,D006014,10053241,5686
166105,FASTKD2-related infantile mitochondrial encephalomyopathy,Disease,Disorder,5C53.2Y,0015632,G71.3,618855,C4755278,,,
369,Glycogen storage disease due to liver glycogen phosphorylase deficiency,Disease,Disorder,5C51.3,0009294,E74.0,232700,C0017925,D006013,10053240,6529
447,Paroxysmal nocturnal hemoglobinuria,Disease,Disorder,3A21.0,0100244,D59.5,615399,C0024790,D006457,10034042,7337
166108,Birk-Barel syndrome,Disease,Disorder,,0012856,Q87.8,612292,C2676770,C567357,,10358
166113,Bazex syndrome,Disease,Disorder,EL10,,L44.8,,C0406355,,10065247,
535,Rare cutaneous lupus erythematosus,Clinical group,Group of disorders,,,,,C5680424,,10056509,6225
166119,Isolated osteopoikilosis,Disease,Disorder,LD24.11,0015634,Q78.8,166700,C1833699,C563484,,
487,Krabbe disease,Disease,Disorder,8A44.4,0009499,E75.2,611722,C0023521,D007965,10023492,6844
166260,Dentinogenesis imperfecta type 2,Clinical subtype,Subtype of disorder,LA30.8,0007441,K00.5,605594,C2973527,,,12796
166265,Dentinogenesis imperfecta type 3,Clinical subtype,Subtype of disorder,LA30.8,0007442,K00.5,125500,C0399378,C538216,,10144
583,Mucopolysaccharidosis type 6,Disease,Disorder,5C56.33,0009661,E76.2,253200,C0026709,D009087,10056892,7095
166272,Odontochondrodysplasia,Malformation syndrome,Disorder,,100325,Q78.8,184260,C2745953,C535792,,8717
576,Mucolipidosis type II,Disease,Disorder,5C56.20,0009650,E77.0,252500,C0020725,C538602,10072928,6749
166277,Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,Malformation syndrome,Disorder,LD24.KY,0011501,Q78.8,604922,C4518794,,,10290
812,Sialidosis type 1,Disease,Disorder,5C56.21,0019346,E77.1,256550,C0023806,,,7639
166282,Hereditary sick sinus syndrome,Disease,Disorder,BC65.Y,0012061,I49.5,619464,C0340491,D012804,10040639,13663
578,Mucolipidosis type IV,Disease,Disorder,5C56.0Y,0009653,E75.1,252650,C0238286,,10072930,94
166286,Porokeratotic eccrine ostial and dermal duct nevus,Disease,Disorder,LC02,0015635,Q82.5,,C0473579,,,
577,Mucolipidosis type III,Disease,Disorder,5C56.20,,E77.0,252605,C0033788,,10072929,3806
166291,Dirofilariasis,Disease,Disorder,1F66.Y,0015636,B74.8,,C0012602,D004184,10080290,11908
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,,,
166305,OBSOLETE: Benign infantile seizures associated with mild gastroenteritis,Disease,Disorder,,,,,,,,
2912,Poliomyelitis,Disease,Disorder,1C81,0017373,A80.1,,C0032371,D011051,10036012,7413
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
166409,Photosensitive occipital lobe epilepsy,Disease,Disorder,8A61.40,0015643,G40.5,609573,C0393720,,,5648
801,Scleroderma,Clinical group,Group of disorders,,0019340,,,C0011644,,10039710,
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
166421,Orgasm-induced epilepsy,Disease,Disorder,8A61.40,0015646,G40.5,,C4706598,,,
856,NON RARE IN EUROPE: Tourette syndrome,Disease,Disorder,,,F95.2,,,,,
166418,Eating reflex epilepsy,Disease,Disorder,8A61.40,0015645,G40.5,,C0393725,,,
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
825,NON RARE IN EUROPE: Ankylosing spondylitis,Disease,Disorder,,,M45,,,,,
166412,Hot water reflex epilepsy,Disease,Disorder,8A61.40,0013229,G40.5,613340,C4706506,,,
166433,Epilepsy with reading-induced seizures,Disease,Disorder,8A61.40,0007560,G40.5,132300,C0278193,,,
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
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
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
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
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
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,,,
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
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
269,Facioscapulohumeral dystrophy,Disease,Disorder,8C70.3,0001347,G71.0,600416,C0238288,D020391,10064087,9941
480,Kearns-Sayre syndrome,Disease,Disorder,9C82.0,0010787,H49.8,530000,C0022541,D007625,10048804,6817
593,Myofibrillar myopathy,Category,Group of disorders,8C76,0018943,,,C2678065,C580316,10087101,10529
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
597,Central core disease,Disease,Disorder,8C72.02,0007294,G71.2,117000,C0751951,D020512,10057620,6014
607,Nemaline myopathy,Clinical group,Group of disorders,8C72.00,0018958,,,C0206157,D017696,,12033
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,,
684,Paramyotonia congenita of Von Eulenburg,Disease,Disorder,8C74.0,0008195,G71.1,168300,C0221055,,10088318,7325
163931,Acrodermatitis continua of Hallopeau,Disease,Disorder,EA90.41,,L40.2,,C0392439,,,
273,Steinert myotonic dystrophy,Disease,Disorder,8C71.0,0008056,G71.1,160900,C3250443,C538008,,8310
163927,Pustulosis palmaris et plantaris,Disease,Disorder,EA90.42,0015597,L40.3,,C0030246,,10050185,12820
163937,"X-linked intellectual disability, Najm type",Disease,Disorder,LD90.Y,0010417,Q04.3,300749,C2677903,,,12669
163934,Atopic keratoconjunctivitis,Disease,Disorder,9A60.0Y,0015599,H16.2,,C1274788,,10069664,
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
163921,Posttransplant acute limbic encephalitis,Particular clinical situation in a disease or syndrome,Disorder,,0015595,G04.8,,C4750744,,,
163966,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",Disease,Disorder,LD24.A,0010463,Q87.8,300863,C4304401,,,
163971,"X-linked intellectual disability, Cilliers type",Disease,Disorder,LD90,0015600,Q87.8,,C4305024,,,
163976,"X-linked intellectual disability, Van Esch type",Malformation syndrome,Disorder,LD90,0015601,Q87.8,301030,C4305072,,,
163979,X-linked intellectual disability-craniofacioskeletal syndrome,Disease,Disorder,LD90,0010412,Q87.8,300712,C4750743,,,
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,,,
163961,X-linked cerebral-cerebellar-coloboma syndrome,Disease,Disorder,,0010464,Q87.8,300864,C3275487,,,
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,,,
324,Fabry disease,Disease,Disorder,5C56.01,0010526,E75.2,301500,C0002986,D000795,10016016,6400
163982,X-linked intellectual disability-spastic quadriparesis syndrome,Disease,Disorder,,,,309640,,,,
163985,Hyperekplexia-epilepsy syndrome,Disease,Disorder,,0010375,G25.8,300607,C5191643,,,
778,Rett syndrome,Disease,Disorder,LD90.4,0010726,F84.2,312750,C0035372,D015518,10077709,5696
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
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
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
892,Von Hippel-Lindau disease,Disease,Disorder,5A75,0008667,Q85.8,193300,C0019562,D006623,10047716,7855
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
164736,Familial advanced sleep-phase syndrome,Disease,Disorder,7A6Z,,G47.2,615224,C1858496,C565789,,9242
138,CHARGE syndrome,Malformation syndrome,Disorder,5A61.0,0008965,Q87.8,214800,C0265354,D058747,10064063,29
558,Marfan syndrome,Disease,Disorder,LD28.01,0007947,Q87.4,154700,C0024796,D008382,10026829,
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
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
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
165961,OBSOLETE: Subcutaneous myiasis,Category,Group of disorders,,,,,,,,
399,Huntington disease,Disease,Disorder,8A01.10,0007739,G10,143100,C0020179,D006816,10070668,6677
165955,Wound myiasis,Disease,Disorder,1G01.3,0015622,B87.1,,C0344061,,,
501,Lafora disease,Disease,Disorder,8A61.41,0009697,G40.3,620681,C0751783,D020192,10054030,8214
165958,Cavitary myiasis,Disease,Disorder,1G01.0,0015623,B87.8,,C4707154,,,
870,Down syndrome,Malformation syndrome,Disorder,LD40.0,0008608,Q90.9,190685,C0013080,D004314,10044688,10247
512,Metachromatic leukodystrophy,Disease,Disorder,5C56.02,0018868,E75.2,250100,C0023522,D007966,10067609,3230
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,,
567,22q11.2 deletion syndrome,Malformation syndrome,Disorder,LD44.N0,0018923,D82.1,188400,C0012236,D004062,10012979,10299
232,Sickle cell anemia,Disease,Disorder,3A51.2,0011382,D57.2,603903,C0002895,D000755,10040641,8614
165994,Pituitary resistance to thyroid hormone,Disease,Disorder,,,,,C1840364,,,
536,Systemic lupus erythematosus,Disease,Disorder,4A40.0,0007915,M32.9,614420,C0024141,D008180,10042945,
166002,Multiple epiphyseal dysplasia due to collagen 9 anomaly,Disease,Disorder,LD24.61,0015627,Q77.3,614135,C4707798,,,
534,Oculocerebrorenal syndrome of Lowe,Malformation syndrome,Disorder,5C60.0,,E72.0,309000,C0028860,D009800,10051707,3295
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
165991,Exercise-induced hyperinsulinism,Disease,Disorder,5A45,0012396,E16.1,610021,C1864902,C538376,,9932
652,Multiple endocrine neoplasia type 1,Disease,Disorder,2F7A.0,0007540,D44.8,131100,C0025267,D018761,10073150,3829
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
3099,Rheumatic fever,Disease,Disorder,1B41,0017767,I01.9,268240,C0035436,D012213,10039054,5699
739,Prader-Willi syndrome,Disease,Disorder,LD90.3,0008300,Q87.1,615547,C0032897,D011218,10036476,5575
47,X-linked agammaglobulinemia,Clinical subtype,Subtype of disorder,4A01.00,0010421,D80.0,300755,C0221026,C537409,10060360,1033
580,Mucopolysaccharidosis type 2,Disease,Disorder,5C56.31,0010674,E76.1,309900,C0026705,D016532,10056889,6675
579,Mucopolysaccharidosis type 1,Disease,Disorder,5C56.30,0001586,E76.0,607016,C0023786,D008059,10056886,10335
905,Wilson disease,Disease,Disorder,5C64.00,0010200,E83.0,277900,C0019202,D006527,10019819,7893
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
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,
827,Stargardt disease,Disease,Disorder,9B70,0019353,H35.5,603786,C0271093,D000080362,10062766,181
163582,Rare bacterial infectious disease,Category,Group of disorders,,,,,C5681850,,,
163531,Chronic cutaneous lupus erythematosus,Clinical group,Group of disorders,EB51,0015574,,,C0024138,,10057929,
906,Wiskott-Aldrich syndrome,Disease,Disorder,3B62.0Y,0010518,D82.0,600903,C0043194,D014923,10047992,7895
904,Williams syndrome,Malformation syndrome,Disorder,LD44.70,0008678,Q93.8,194050,C0175702,D018980,10049644,7891
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
162516,Isolated congenital nasal pyriform aperture stenosis,Malformation syndrome,Disorder,LA70.Y,0015568,Q30.8,,C3839990,,10089480,
15,Achondroplasia,Disease,Disorder,LD24.00,0007037,Q77.4,100800,C0001080,D000130,10000452,8173
96,Ataxia with vitamin E deficiency,Disease,Disorder,8A03.10,0010188,G11.1,277460,C1848533,C535393,10088735,8595
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
783,Rubinstein-Taybi syndrome,Malformation syndrome,Disorder,LD2F.1Y,0019188,Q87.2,613684,C0035934,D012415,10039281,7593
163649,Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,Disease,Disorder,LD24.3,0011261,Q77.7,,C4305147,,,
631,Non-acquired isolated growth hormone deficiency,Disease,Disorder,5A61.0,0000050,E23.0,612781,C5679572,,10035083,12556
276,T-B+ severe combined immunodeficiency due to gamma chain deficiency,Disease,Disorder,4A01.10,0010315,D81.2,300400,C4707334,,,5618
163654,Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,Disease,Disorder,LD24.3,0012716,Q77.7,611717,C2673649,C567128,,10629
481,Kennedy disease,Disease,Disorder,8B61.4,0010735,G12.2,313200,C1839259,,10068600,6818
664,Ornithine transcarbamylase deficiency,Disease,Disorder,5C50.AY,0010703,E72.4,311250,C0268542,D020163,10052450,8391
163668,"Spondyloepiphyseal dysplasia, MacDermot type",Malformation syndrome,Disorder,LD24.3,0008472,Q77.7,184000,C4305149,,,
163673,"Spondyloepiphyseal dysplasia, Byers type",Disease,Disorder,,,,183850,C1866727,,,
163662,"Spondyloepiphyseal dysplasia, Reardon type",Disease,Disorder,LD24.3,0010902,Q77.7,600561,C4305148,,,
394,Homocystinuria due to cystathionine beta-synthase deficiency,Disease,Disorder,5C50.B,0009352,E72.1,236200,C0751202,,10071093,6667
163665,"Spondyloepiphyseal dysplasia tarda, Kohn type",Disease,Disorder,LD24.3,0010073,Q77.7,271620,C4304888,,,
508,Donohue syndrome,Malformation syndrome,Disorder,5A44,0009517,E34.8,246200,C0265344,D056731,10081896,6885
163591,Rare mycosis,Category,Group of disorders,,,,,C5680444,,,
436,Hypophosphatasia,Disease,Disorder,5C64.3,0018570,E83.3,241510,C0020630,D007014,10049933,6734
163596,Hemoglobin Bart's fetalis syndrome,Disease,Disorder,3A50.03,0015579,D56.0,236750,C0272005,,,
163585,Rare viral disease,Category,Group of disorders,,,,,C5680445,,,
429,Hypochondroplasia,Disease,Disorder,LD24.01,0007793,Q77.4,146000,C0410529,C562937,10020967,6724
163588,Rare parasitic disease,Category,Group of disorders,,,,,C5680446,,,
437,Hypophosphatemic rickets,Clinical group,Group of disorders,5C63.22,0000044,,,C1704375,D063730,10060873,6735
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
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
163634,Maffucci syndrome,Disease,Disorder,LD2F.1Y,0013808,Q78.4,614569,C0024454,,10083007,6958
163717,Familial mesial temporal lobe epilepsy,Disease,Disorder,8A61.4Y,0015586,G40.0,615697,C4749273,,,
163708,Cryptogenic late-onset epileptic spasms,Disease,Disorder,8A61.2Y,0015585,G40.4,,C4755310,,,
636,Neurofibromatosis type 1,Disease,Disorder,LD2D.10,0018975,Q85.0,613675,C0027831,D009456,10029270,7866
163703,Febrile infection-related epilepsy syndrome,Disease,Disorder,8A63.Y,0015584,G40.5,,C4049262,,10079438,11005
649,Norrie disease,Malformation syndrome,Disorder,LD21.Y,0010691,H35.5,310600,C0266526,C537849,10069760,7224
163727,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,Disease,Disorder,8A61.2Y,0011970,G40.4,608105,C1842531,C535499,,
163721,Rolandic epilepsy-speech dyspraxia syndrome,Disease,Disorder,8A61.2Y,0015587,G40.8,300643,C4707308,,,
163684,Leukoencephalopathy-dystonia-motor neuropathy syndrome,Disease,Disorder,,0013391,E75.2,613724,C4518784,,,12471
163681,CNTNAP2-related developmental and epileptic encephalopathy,Disease,Disorder,,0012400,Q04.8,610042,C5575702,,,
379,Chronic granulomatous disease,Disease,Disorder,4A00.0Y,0018305,D71,618935,C0018203,D006105,10008906,6100
163678,OBSOLETE: Unclassified spondylometaphyseal dysplasia,Disease,Disorder,,,,,,,,
16,Blue cone monochromatism,Disease,Disorder,9B70,0010563,H53.5,303700,C0339537,C536238,,917
644,NARP syndrome,Disease,Disorder,8C73.1,0010794,E88.8,551500,C1328349,C537396,10062940,262
163699,Alveolar soft tissue sarcoma,Disease,Disorder,,0011655,C49.9,606243,C0206657,D018234,10001882,5654
637,Full NF2-related schwannomatosis,Disease,Disorder,LD2D.11,,Q85.0,101000,C0027832,D016518,,
163696,Action myoclonus-renal failure syndrome,Disease,Disorder,GB4Z,0009699,G40.4,254900,C0751779,,,
181,X-linked hypohidrotic ectodermal dysplasia,Etiological subtype,Subtype of disorder,LD27.02,0010585,Q82.4,305100,C0162359,D053358,,10427
163693,2p21 microdeletion syndrome,Disease,Disorder,LD44.21,0015583,Q93.5,606407,C4304537,,,
163690,Hypotonia-cystinuria syndrome,Disease,Disorder,5C60.Y,0011669,E72.0,606407,C1848030,C564710,10083099,
337,Fibrodysplasia ossificans progressiva,Disease,Disorder,FB31.1,0007606,M61.1,135100,C0016037,D009221,10068715,6445
3444,Watson syndrome,Malformation syndrome,Disorder,,,,193520,C0553586,,,
377,Gorlin syndrome,Malformation syndrome,Disorder,LD2D.4,0007187,C44.9,109400,C0004779,D001478,10062804,7166
648,Noonan syndrome,Malformation syndrome,Disorder,LD2F.15,0018997,Q87.1,616564,C0028326,D009634,10029748,10955
281,Monosomy 5p syndrome,Malformation syndrome,Disorder,LD44.51,0007404,Q93.4,123450,C0010314,D003410,10011385,6213
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
214,Cystinuria,Disease,Disorder,5C60.2,0009067,E72.0,220100,C0010691,D003555,10011778,6237
510,Lesch-Nyhan syndrome,Disease,Disorder,5C55.01,0010298,E79.1,308950,C0023374,D007926,10057589,7226
524,Li-Fraumeni syndrome,Disease,Disorder,2B51.Y,0018875,C97,151623,C0085390,D016864,10066795,6902
699,Pearson syndrome,Disease,Disorder,3A72.01,0010797,D64.0,557000,C0342784,,10062941,7343
640,Hereditary neuropathy with liability to pressure palsies,Malformation syndrome,Disorder,8C20.Y,0008087,G60.0,162500,C0393814,C536965,10069382,5221
60,Alpha-1-antitrypsin deficiency,Disease,Disorder,5C5A,0013282,E88.0,613490,C0221757,D019896,10001806,5784
895,Waardenburg syndrome type 2,Clinical subtype,Subtype of disorder,EC23.2Y,0019517,E70.3,611584,C2700265,C536463,,5520
896,Waardenburg syndrome type 3,Clinical subtype,Subtype of disorder,EC23.2Y,0007862,E70.3,148820,C0079661,,,5523
3140,NON RARE IN EUROPE: Schizophrenia,Disease,Disorder,,,,,,,,
857,Townes-Brocks syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007142,Q87.8,617466,C0265246,C536974,,7784
894,Waardenburg syndrome type 1,Clinical subtype,Subtype of disorder,EC23.2Y,0008670,E70.3,193500,C1847800,,,5519
682,Hyperkalemic periodic paralysis,Disease,Disorder,8C74.11,0008224,G72.3,170500,C0238357,D020513,,195
800,Schwartz-Jampel syndrome,Disease,Disorder,8C71.1,0009717,G71.1,255800,C0036391,,10082378,250
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
673,Malaria,Disease,Disorder,1F45,0005136,B51.0,611162,C0024530,D008288,10025487,6961
681,Hypokalemic periodic paralysis,Disease,Disorder,8C74.10,0008223,G72.3,613345,C0238358,D020514,,6729
126,Blepharophimosis-ptosis-epicanthus inversus syndrome,Malformation syndrome,Disorder,LD21.Y,0007201,Q10.3,110100,C0220663,C562419,10081258,
107,BOR syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007029,Q87.8,610896,C0265234,D019280,10071135,10147
774,Hereditary hemorrhagic telangiectasia,Disease,Disorder,LA90.00,0019180,I78.0,175050,C0039445,D013683,10019883,6626
794,Saethre-Chotzen syndrome,Malformation syndrome,Disorder,LD24.GY,0007042,Q87.0,101400,C0175699,,,7598
710,Pfeiffer syndrome,Malformation syndrome,Disorder,LD24.G0,0007043,Q87.0,101600,C0220658,C538582,10082289,7380
2869,Peutz-Jeghers syndrome,Disease,Disorder,LD2D.0,0008280,Q85.8,175200,C0031269,D010580,10034764,7378
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
912,Zellweger syndrome,Disease,Disorder,5C57.0,0019609,Q87.8,614887,C0043459,D015211,10053684,7917
50,Aicardi syndrome,Disease,Disorder,LD20.Y,0010568,Q04.0,304050,C0175713,D058540,10054935,5764
53,Albers-Schönberg osteopetrosis,Malformation syndrome,Disorder,LD24.10,0008156,Q78.2,166600,C3179239,,,383
14,Abetalipoproteinemia,Disease,Disorder,5C81.1,0008692,E78.6,605019,C0000744,D000012,10083851,5
52,Alagille syndrome,Malformation syndrome,Disorder,LB20.0Y,0007318,Q44.7,610205,C0085280,D016738,10053870,804
167,Chédiak-Higashi syndrome,Disease,Disorder,EC23.20,0008963,E70.3,214500,C0007965,D002609,10008415,6035
195,Cat-eye syndrome,Malformation syndrome,Disorder,LD41.P,0007276,Q92.8,115470,C0265493,C535918,,26
207,Crouzon syndrome,Malformation syndrome,Disorder,LD24.G1,0007405,Q75.1,123500,C0010273,,,6206
205,Crigler-Najjar syndrome,Disease,Disorder,5C58.00,0009044,E80.5,606785,C5551003,D003414,10011386,
160148,Cap polyposis,Disease,Disorder,2E92.40,0015565,D12.6,,C4303971,,,
201,Cowden syndrome,Clinical subtype,Subtype of disorder,LD2D.Y,0016063,Q85.8,616858,C0018553,D006223,10051906,6202
192,Coffin-Lowry syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010561,Q87.0,303600,C0265252,D038921,10081806,6123
2442,X-linked lymphoproliferative disease,Clinical group,Group of disorders,4A01.22,0010627,,308240,C0549463,D008232,10068348,10915
169808,Mild hemophilia A,Clinical subtype,Subtype of disorder,3B10.0,0015721,D66,306700,C0272324,,,
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,,,
169805,Moderate hemophilia A,Clinical subtype,Subtype of disorder,3B10.0,0015720,D66,306700,C0272323,,,
562,McCune-Albright syndrome,Disease,Disorder,FB80.0,0018919,Q78.1,174800,C0242292,,10052032,6995
565,Menkes disease,Disease,Disorder,5C64.0Y,0010651,E83.0,309400,C0022716,D007706,10027294,1521
2443,Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,Category,Group of disorders,,,,,C5679573,,,
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
540,Familial hemophagocytic lymphohistiocytosis,Disease,Disorder,4A01.23,0015541,D76.1,618998,C0272199,,10070904,6589
568,"Microphthalmia, Lenz type",Malformation syndrome,Disorder,LD21.0,0018924,Q11.2,309800,C0796016,C537464,,87
564,Meckel syndrome,Malformation syndrome,Disorder,LD2F.13,0018921,Q61.9,614175,C0265215,,,3436
289,Ellis Van Creveld syndrome,Malformation syndrome,Disorder,LD27.0Y,0009162,Q77.6,619142,C0013903,D004613,10008724,1301
258,Laminin subunit alpha 2-related congenital muscular dystrophy,Malformation syndrome,Disorder,,,G71.2,607855,C1263858,C537384,,3843
1247,Schistosomiasis,Disease,Disorder,1F86,0015254,B65.9,181460,C0036323,D012552,10039603,9687
112,Bartter syndrome,Disease,Disorder,GB90.43,0015231,E26.8,300971,C0004775,D001477,10050839,5893
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,,
169464,Primary CD59 deficiency,Disease,Disorder,4A00.1Y,0012858,D84.1,612300,C4755276,,,
99,Autosomal dominant cerebellar ataxia,Category,Group of disorders,8A03.1Y,0020380,,,C4087347,,,4346
116,Beckwith-Wiedemann syndrome,Malformation syndrome,Disorder,LD2C,0007534,Q87.3,130650,C0004903,D001506,10050344,3343
87,Apert syndrome,Malformation syndrome,Disorder,LD24.G2,0007041,Q87.0,101200,C0001193,,10002943,5833
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
169467,Recurrent Neisseria infections due to factor D deficiency,Disease,Disorder,4A00.1Y,0013487,D84.1,613912,C5190780,,,
313,Lamellar ichthyosis,Disease,Disorder,EC20.02,0017778,Q80.2,617571,C5848247,D017490,10023686,10803
169799,Mild hemophilia B,Clinical subtype,Subtype of disorder,3B11.0,0015717,D67,306900,C5679574,,,
169796,Moderate hemophilia B,Clinical subtype,Subtype of disorder,3B11.0,0015716,D67,306900,C5679575,,,
169793,Severe hemophilia B,Clinical subtype,Subtype of disorder,3B11.0,0015715,D67,306900,C5679576,,,
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
999,Ermine phenotype,Malformation syndrome,Disorder,LD2H.Y,0009196,E70.3,227010,C1856899,C535508,,407
171430,Severe congenital nemaline myopathy,Disease,Disorder,8C72.00,0015735,G71.2,616165,C5680451,,,12821
171433,Intermediate nemaline myopathy,Disease,Disorder,8C72.00,0015736,G71.2,161800,C5680452,,,12823
171436,Typical nemaline myopathy,Disease,Disorder,8C72.00,0015737,G71.2,616165,C5680453,,,12822
171439,Childhood-onset nemaline myopathy,Disease,Disorder,8C72.00,0015738,G71.2,617336,C0546125,,,7171
55,Oculocutaneous albinism,Clinical group,Group of disorders,EC23.20,0018910,,,C0078918,D016115,,10958
171442,Adult-onset nemaline myopathy,Disease,Disorder,8C72.00,0015739,G71.2,,C0546123,,,12824
171445,Muscle filaminopathy,Disease,Disorder,8C76,0012289,G71.8,609524,C4707258,,,
171607,X-linked spastic paraplegia type 34,Disease,Disorder,8B44.02,0010418,G11.4,300750,C2677897,C567465,,
2771,Bruck syndrome,Malformation syndrome,Disorder,LD24.KY,0017195,M21.8,609220,C0432253,,10063718,1029
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,,
171617,Autosomal dominant spastic paraplegia type 38,Disease,Disorder,8B44.00,0012867,G11.4,612335,C2676732,C567349,,
1349,Mitochondrial DNA-related cardiomyopathy and hearing loss,Malformation syndrome,Disorder,5D0Y,0015283,E88.8,,C4510409,,,
171622,Autosomal recessive spastic paraplegia type 32,Disease,Disorder,8B44.01,0012643,G11.4,611252,C1970009,C566983,,12749
171629,Autosomal recessive spastic paraplegia type 35,Disease,Disorder,8B44.01,0012866,G11.4,612319,C3496228,C567311,,10538
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
308,Progressive myoclonic epilepsy type 1,Disease,Disorder,8A61.41,0009698,G40.3,612437,C0751785,D020194,10054895,3876
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
171201,OBSOLETE: High isolated anorectal malformation,Morphological anomaly,Disorder,,,,,,,,
2162,Holoprosencephaly,Malformation syndrome,Disorder,LA05.2,0016296,Q04.2,609408,C0079541,D016142,10056304,6665
930,Idiopathic achalasia,Disease,Disorder,DA21.0,0019635,K22.0,200400,C0859976,C536011,10036669,5708
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
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
169079,Cernunnos-XLF deficiency,Disease,Disorder,4A01.1Y,0012650,D81.1,611291,C4303792,,,
1716,Distal duplication 18q syndrome,Malformation syndrome,Disorder,,0015741,Q92.3,,C5190516,,,
1715,Trisomy 18p syndrome,Malformation syndrome,Disorder,LD41.H1,0015740,Q92.2,,C2931811,C538307,,5323
3380,Trisomy 18 syndrome,Malformation syndrome,Disorder,LD40.2,0018071,Q91.3,,C4317091,D000073842,10053884,6321
168984,CLAPO syndrome,Malformation syndrome,Disorder,LD2C,0013125,Q87.3,613089,C2751313,C567763,,
1707,Distal duplication 15q syndrome,Etiological subtype,Subtype of disorder,LD2C,0015728,Q92.3,,C2931705,C538036,,
168999,Malignant melanoma of the mucosa,Disease,Disorder,,0015694,C43.9,,C5191057,,,
3378,Trisomy 13 syndrome,Malformation syndrome,Disorder,LD40.1,0018068,Q91.7,,C2936830,D000073839,10044686,7341
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,,,
169105,Thymoma-hypogammaglobulinemia syndrome,Disease,Disorder,4B40.2,0015696,D81.8,,C0221027,,10079838,8622
169090,Combined immunodeficiency due to CRAC channel dysfunction,Disease,Disorder,4A01.1Y,0015695,D81.8,612783,C4303571,,,
236,Trisomy 9p syndrome,Malformation syndrome,Disorder,LD41.81,0016526,Q92.2,,C0265428,,,
169095,Severe combined immunodeficiency due to FOXN1 deficiency,Disease,Disorder,4A01.1Y,0011132,D82.8,601705,C1866426,C536781,,4358
169082,Combined immunodeficiency due to CD3gamma deficiency,Disease,Disorder,4A01.1Y,0014276,D81.2,615607,C4510864,,,
169085,Susceptibility to respiratory infections associated with CD8alpha chain mutation,Disease,Disorder,4A01.1Y,0012161,D84.8,608957,C1837065,C563824,,
168829,Primary peritoneal carcinoma,Disease,Disorder,,0015686,C48.2,,C0334361,,,
168816,Peritoneal inclusion cyst,Disease,Disorder,,6363,C45.1,,C1334818,,,10777
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
868,Triose phosphate-isomerase deficiency,Disease,Disorder,3A10.Y,0014221,D55.2,615512,C0398562,,,5287
168811,Malignant peritoneal mesothelioma,Disease,Disorder,2C51.2,0005512,C45.1,,C0346109,,10056558,
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
168796,"Heart-hand syndrome, Slovenian type",Malformation syndrome,Disorder,LD2F.1Y,0012417,Q87.2,610140,C1857829,C535852,,9846
1465,Coffin-Siris syndrome,Malformation syndrome,Disorder,LD27.0Y,0015452,Q87.1,618362,C0265338,C536436,10083941,6124
168782,Childhood disintegrative disorder,Disease,Disorder,6A02.3,0015681,F84.3,,C0236791,,10008522,6040
1642,Distal deletion 9p syndrome,Malformation syndrome,Disorder,,0015605,Q93.5,,C0265425,C538025,,
168966,Composite lymphoma,Disease,Disorder,XH3BP6,0005710,C81.7,,C0545080,D058617,10073957,
168960,Refractory anemia with excess blasts in transformation,Disease,Disorder,2A34,0015692,D46.2,,C0280028,,10038271,
8,"47,XYY syndrome",Malformation syndrome,Disorder,LD52.1,0019339,Q98.5,,C3266843,C535317,10056894,5674
1636,Distal monosomy 7q36 syndrome,Malformation syndrome,Disorder,LD44.70,0015580,Q93.5,,C4706504,,,
168956,Hypereosinophilic syndrome,Clinical group,Group of disorders,,0015691,,,C1540912,D017681,10048643,2804
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
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
168940,Chronic eosinophilic leukemia,Disease,Disorder,2A20.3,0015687,D47.5,,C0346421,,10065854,
2773,Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,Malformation syndrome,Disorder,LD24.KY,0017196,Q87.8,,C4302824,,,587
2772,Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,Malformation syndrome,Disorder,LD24.KY,0009803,Q78.0,259410,C1850184,C537558,,
2609,Isolated complex I deficiency,Disease,Disorder,5C53.2Y,0100133,G71.3,618242,C1838979,C537475,,3908
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
773,Adult Refsum disease,Disease,Disorder,5C57.1,0009958,G60.1,614879,C0034960,D012035,10038275,5691
11,Pentasomy X syndrome,Malformation syndrome,Disorder,LD50.Y,0015228,Q97.1,,C2937419,C535319,,5678
169154,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,Disease,Disorder,4A01.10,0015701,D81.2,608971,C5679577,,,
370,Glycogen storage disease due to phosphorylase kinase deficiency,Clinical group,Group of disorders,5C51.3,,,,C5848056,C580130,10083034,
169150,Immunodeficiency due to a late component of complement deficiency,Disease,Disorder,4A00.11,0015700,D84.1,609536,C0398765,,,
169160,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,Disease,Disorder,4A01.10,0015703,D81.2,615617,C5679578,,,
385,Neurodegeneration with brain iron accumulation,Clinical group,Group of disorders,,0018307,,,C2931845,C538421,,11899
169157,T-B+ severe combined immunodeficiency due to CD45 deficiency,Disease,Disorder,4A01.10,0015702,D81.2,619924,C5679579,,,
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
169147,Immunodeficiency due to a classical component pathway complement deficiency,Disease,Disorder,4A00.10,0015699,D84.1,614380,C0398750,,,1452
169142,Recurrent infections due to specific granule deficiency,Disease,Disorder,4A00.0Y,9506,D71,245480,C5546032,,,10778
352,Galactosemia,Category,Group of disorders,5C51.4Y,0018116,,230400,C0016952,D005693,10017604,2424
596,X-linked centronuclear myopathy,Disease,Disorder,8C72.01,0010683,G71.2,310400,C0410203,,,11925
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
169186,Autosomal recessive centronuclear myopathy,Disease,Disorder,8C72.01,0015705,G71.2,615959,C0410204,C562934,,12718
464,Incontinentia pigmenti,Malformation syndrome,Disorder,LD27.00,0010631,Q82.3,308300,C0021171,D007184,10077624,6778
3307,Tetrasomy 18p syndrome,Malformation syndrome,Disorder,LD7Y,0013668,Q99.8,614290,C0795868,C538306,,35
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
3084,Mirhosseini-Holmes-Walton syndrome,Malformation syndrome,Disorder,,,,268050,C0796072,,,
44,Neonatal adrenoleukodystrophy,Disease,Disorder,5A74.Y,0018598,E71.3,617370,C0282525,,,559
56,Alkaptonuria,Disease,Disorder,5C50.10,0008753,E70.2,203500,C0002066,D000474,10001689,5775
963,Acromegaly,Disease,Disorder,5A60.0,0019933,E22.0,300943,C0001206,D000172,10000599,5725
1059,Blue rubber bleb nevus,Malformation syndrome,Disorder,LC51,0007203,Q27.8,112200,C0346072,C536240,,5940
1006,Alopecia antibody deficiency,Disease,Disorder,,0015082,D80.8,,C5190867,,,
1046,Lethal hemolytic anemia-genital anomalies syndrome,Malformation syndrome,Disorder,3A10.Y,0010891,D58.8,600461,C4304746,,,2642
22,Succinic semialdehyde dehydrogenase deficiency,Disease,Disorder,5C50.E1,0010083,E72.8,271980,C0268631,C535803,,7695
29,Mevalonic aciduria,Clinical subtype,Subtype of disorder,5C52.10,0012481,E88.8,610377,C1959626,,10072219,3588
245,Nager syndrome,Malformation syndrome,Disorder,LD25.2,0007943,Q75.4,154400,C0265245,C538184,10084410,498
30,Hereditary orotic aciduria,Disease,Disorder,3A03.0,0009797,E79.8,258900,C0220987,C537136,10052621,5429
36,Acrocallosal syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008708,Q04.0,200990,C0796147,D055673,10083865,5721
915,Aarskog-Scott syndrome,Malformation syndrome,Disorder,LD2F.1Y,0021005,Q87.1,305400,C0175701,C535331,10067148,4775
2614,Nail-patella syndrome,Malformation syndrome,Disorder,LD24.J0,0008061,Q87.2,161200,C0027341,D009261,10063431,7160
33,Isovaleric acidemia,Disease,Disorder,5C50.E0,0009475,E71.1,243500,C0268575,C538167,10083852,465
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
3085,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,Malformation syndrome,Disorder,LD2H.Y,0009983,Q87.8,268020,C4518330,,,4683
9,Tetrasomy X syndrome,Malformation syndrome,Disorder,LD50.Y,0019525,Q97.1,,C0265496,C536502,,7754
168615,Hereditary persistence of alpha-fetoprotein,Biological anomaly,Disorder,,0014425,R77.2,615970,C1863080,,,
168612,Congenital deficiency in alpha-fetoprotein,Biological anomaly,Disorder,,0014424,R77.2,615969,C4274336,,,
1442,Ring chromosome 18 syndrome,Malformation syndrome,Disorder,LD7Y,0015434,Q93.2,,C0265475,C538304,,6077
168621,"Dysplasia of head of femur, Meyer type",Disease,Disorder,LD24.6Y,0015678,Q78.8,,C4274970,,,
1452,Cleidocranial dysplasia,Malformation syndrome,Disorder,LD24.2Y,,Q74.0,119600,C0008928,D002973,10075994,6118
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,,,
193,Cohen syndrome,Malformation syndrome,Disorder,LD90.Y,0008999,Q87.8,216550,C0265223,C536438,10049066,6126
168624,"Familial scaphocephaly syndrome, McGillivray type",Malformation syndrome,Disorder,LD24.GY,0012307,Q87.0,609579,C4510730,,,3426
168778,Rare pervasive developmental disorder,Category,Group of disorders,,,,,C5679581,D002659,10061345,
1488,Cooper-Jabs syndrome,Malformation syndrome,Disorder,,0008850,Q87.8,209770,C4303864,,,
200,Isolated corpus callosum agenesis,Morphological anomaly,Disorder,LA05.3,0026419,Q04.0,,C0175754,D061085,,
168632,Generalized basaloid follicular hamartoma syndrome,Disease,Disorder,,0011605,Q82.5,605827,C4707879,,,
1334,Chronic mucocutaneous candidiasis,Disease,Disorder,1F23.14,0015279,B37.2,616445,C0006845,D002178,10009007,1077
168583,Hereditary North American Indian childhood cirrhosis,Clinical subtype,Subtype of disorder,DB93.20,0011497,K74.6,604901,C1858051,C565737,,
1369,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,Disease,Disorder,5C53.Y,0008922,Q87.8,615418,C1859317,C538280,,1142
168577,Hereditary cryohydrocytosis with reduced stomatin,Disease,Disorder,3A10.Y,0012143,D58.8,608885,C5190707,,,
168593,Sudden infant death-dysgenesis of the testes syndrome,Malformation syndrome,Disorder,MH11.Z,0012124,G90.8,608800,C1837371,C563856,,12382
1406,Charlie M syndrome,Malformation syndrome,Disorder,LD25.0Y,0015367,Q87.0,,C4518555,,,1261
168588,Hyperandrogenism due to cortisone reductase deficiency,Malformation syndrome,Disorder,5A71.Y,0000193,E25.8,614662,C4329210,,,9882
168601,Congenital enteropathy due to enteropeptidase deficiency,Disease,Disorder,DA90.Y,0009173,K90.8,226200,C0268416,C562649,,
1414,Cholestasis-lymphedema syndrome,Disease,Disorder,DB99.6Y,0008966,Q82.0,214900,C0268314,C535330,,370
168598,Methionine adenosyltransferase I/III deficiency,Disease,Disorder,5C50.B,0009607,E72.1,250850,C0268621,,,
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,,
1155,OBSOLETE: Arthrogryposis due to muscular dystrophy,Disease,Disorder,,,,,,,,
168549,Axial spondylometaphyseal dysplasia,Disease,Disorder,LD24.4,0011211,Q77.8,602271,C1865695,C535795,,8720
168552,Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,Disease,Disorder,LD24.4,0011856,Q77.8,607543,C5190708,C535791,,8719
1154,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,Malformation syndrome,Disorder,LD26.4Y,0007158,Q68.8,108145,C1862472,C537737,,4047
168555,"Spondylometaphyseal dysplasia, A4 type",Disease,Disorder,LD24.4,0012185,Q77.8,609052,C1836862,C563803,,458
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,,,
168563,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",Malformation syndrome,Disorder,LD2A.1,0011766,Q56.1,607080,C5190810,,,
124,Diamond-Blackfan anemia,Disease,Disorder,3A60.1,0015253,D61.0,620072,C0265265,D029503,10062989,6274
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,,,
1310,Caffey disease,Malformation syndrome,Disorder,LD24.1Y,0007244,M89.8,114000,C0020497,D006958,10073206,1051
168569,H syndrome,Malformation syndrome,Disorder,LD27.Y,0011273,D76.3,602782,C1864445,,,10239
168572,Native American myopathy,Malformation syndrome,Disorder,8C72.Y,0009722,G71.2,255995,C1850625,C538343,,8432
125,Bloom syndrome,Disease,Disorder,4A01.31,0008876,Q82.8,210900,C0005859,D001816,10073032,915
90,Argininemia,Disease,Disorder,5C50.A2,0008814,E72.2,207800,C0268548,D020162,10062695,5840
168443,Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,Disease,Disorder,LD24.3,0008469,Q77.7,183849,C1866728,C535783,,10101
1065,Aniridia-cerebellar ataxia-intellectual disability syndrome,Malformation syndrome,Disorder,,0008795,G11.0,206700,C0431401,C536370,10083858,13
168448,"Spondyloepimetaphyseal dysplasia, Bieganski type",Disease,Disorder,,,,,,,,
168451,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,Disease,Disorder,LD24.3,0011124,Q77.7,601668,C1866507,,,
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
1146,Distal arthrogryposis type 1,Malformation syndrome,Disorder,LD26.4Y,0015240,Q68.8,619110,C0220662,C535378,,787
1143,Neurogenic arthrogryposis multiplex congenita,Disease,Disorder,LD26.41,0008823,Q74.3,208100,C1859721,C536614,,790
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
1147,Sheldon-Hall syndrome,Malformation syndrome,Disorder,LD26.4Y,0011128,Q68.8,601680,C1834523,C538400,,
246,Postaxial acrofacial dysostosis,Malformation syndrome,Disorder,LD25.2,0009903,Q75.4,263750,C0265257,C537680,,8410
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
1775,Dyskeratosis congenita,Disease,Disorder,3A70.0,0015780,Q82.8,616353,C0265965,D019871,10062759,10905
1764,Familial dysautonomia,Disease,Disorder,8C21.1,0009131,G90.1,223900,C0013364,D004402,10039179,7581
235,Dubowitz syndrome,Malformation syndrome,Disorder,LD27.0Y,0009124,Q87.1,223370,C0175691,C535718,10059589,6290
239,Dyggve-Melchior-Clausen disease,Disease,Disorder,LD24.3,0009130,Q77.7,304950,C0265286,C535726,,6295
167762,Rare disease with dentinogenesis imperfecta,Category,Group of disorders,,,,,C5680464,,,
1672,Diencephalic syndrome,Disease,Disorder,5A61.Y,0015663,C72.8,,C0342436,,10087520,6276
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,,,
167714,Unclassified acute myeloid leukemia,Category,Group of disorders,,,,601626,C5679583,,,12760
167635,Scleromyxedema,Disease,Disorder,EB90.11,0015665,L98.5,,C0263390,D053718,,7615
765,Pyruvate dehydrogenase deficiency,Disease,Disorder,5C53.02,0019169,E74.4,614111,C0034345,D015325,10084109,7513
395,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,Disease,Disorder,5C63.1,0009353,E72.1,236250,C1856061,C537357,10070309,2734
408,Isolated glycerol kinase deficiency,Disease,Disorder,5C51.1,0018459,E74.8,307030,C0574108,C538138,,2807
148,Multiple carboxylase deficiency,Clinical group,Group of disorders,,0015454,,,C0026755,D009100,10028176,3824
147,Carbamoyl-phosphate synthetase 1 deficiency,Disease,Disorder,5C50.A1,0009376,E72.2,237300,C0751753,D020165,10058297,7269
23,Argininosuccinic aciduria,Disease,Disorder,5C50.A0,0008815,E72.2,207900,C0268547,D056807,10058299,5843
45,Adenosine monophosphate deaminase deficiency,Disease,Disorder,5C55.0Y,0013028,G71.3,615511,C2931781,C538234,,547
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
217,Isolated Dandy-Walker malformation,Morphological anomaly,Disorder,LA06.0,0009072,Q03.1,220200,C2931867,,,6242
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
1538,Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007401,Q03.1,123155,C4304196,,,998
1496,Corpus callosum agenesis-neuronopathy syndrome,Disease,Disorder,LD20.Y,0000902,G60.0,218000,C0795950,C536446,,1537
417,Neonatal severe primary hyperparathyroidism,Disease,Disorder,5A51.0,0009397,E21.0,239200,C1832615,C563375,,2838
2233,Hypogonadism-mitral valve prolapse-intellectual disability syndrome,Disease,Disorder,LD2F.1,0016385,Q87.8,,C2931685,C537981,,1078
2248,Hypoplastic left heart syndrome,Morphological anomaly,Disorder,LA89.3,0004933,Q23.4,614435,C0152101,D018636,10021076,6739
446,Neonatal hemochromatosis,Disease,Disorder,5C64.10,0009275,E83.1,231100,C0268059,C536394,10078355,7172
2135,Cutaneous mastocytosis-deafness-microtia syndrome,Malformation syndrome,Disorder,,0009569,Q82.2,248910,C4302582,,,3409
2140,Congenital diaphragmatic hernia,Morphological anomaly,Disorder,LB00.0,0005711,Q79.0,610187,C0235833,D065630,10010439,1481
2185,Congenital hydrocephalus,Malformation syndrome,Disorder,LA04,0016349,Q03.0,615219,C0020256,,10010506,6682
2113,Congenital hypothalamic hamartoma syndrome,Malformation syndrome,Disorder,,,,,,,,
2116,Hartnup disease,Disease,Disorder,5C60.Y,0009324,E72.0,234500,C0018609,D006250,10019165,6569
2118,Hawkinsinuria,Disease,Disorder,5C50.1Y,0007700,E70.2,140350,C2931042,C535845,,5668
167848,Rare cardiomyopathy,Category,Group of disorders,,,,,C5680467,D009202,10007636,
351,Galactosialidosis,Disease,Disorder,5C56.21,0009737,E77.1,256540,C0268233,C536411,10083306,3953
374,Goldenhar syndrome,Malformation syndrome,Disorder,,,,,,D006053,,
2020,Congenital fiber-type disproportion myopathy,Disease,Disorder,8C72.1,0009711,G71.2,619967,C0546264,,,6161
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
1931,Frontal encephalocele,Clinical subtype,Subtype of disorder,LA01,0016020,Q01.0,,C0431289,,,
295,Fetal parvovirus syndrome,Malformation syndrome,Disorder,KA62.7,0017453,P35.8,,C2931167,C536301,,4236
1933,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",Disease,Disorder,5C53.20,0012791,G71.3,612073,C2749864,,,3681
1880,Ebstein malformation of the tricuspid valve,Morphological anomaly,Disorder,LA87.03,0009144,Q22.5,224700,C0013481,D004437,10014075,6313
255,Dopa-responsive dystonia,Clinical group,Group of disorders,8A02.11,0016812,,,C1851920,C538007,10080034,12144
1915,Fetal alcohol syndrome,Malformation syndrome,Disorder,LD2F.00,0016011,Q86.0,,C0015923,D063647,10016845,
1885,Isolated ectopia lentis,Malformation syndrome,Disorder,LA12.Y,0015998,Q12.1,225200,C1851286,D004479,10014145,12251
1851,Multicystic dysplastic kidney,Morphological anomaly,Disorder,LB30.9,0015988,Q61.4,,C3714581,D021782,,
660,Omphalocele,Morphological anomaly,Disorder,LB01,0019015,Q79.2,310980,C0795690,D006554,10030308,
180312,Rare vulvovaginal tumor,Category,Group of disorders,,,,,C5680468,,,
635,Neuroblastoma,Disease,Disorder,2A00.11,0005072,C74.9,613015,C0027819,D009447,10029260,7185
2612,Linear nevus sebaceus syndrome,Disease,Disorder,LD2D.Y,0008097,Q85.8,163200,C4552097,D054000,,10291
2635,Metatropic dysplasia,Disease,Disorder,LD24.3,0007986,Q77.8,156530,C0265281,C537356,10082970,3571
2655,Thanatophoric dysplasia,Disease,Disorder,LD24.02,0017042,Q77.1,187601,C0039743,D013796,10089187,85
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
705,Pendred syndrome,Malformation syndrome,Disorder,5A00.02,0010134,E07.1,274600,C0271829,C536648,10080398,4271
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
884,Pallister-Killian syndrome,Malformation syndrome,Disorder,LD7Y,0011146,Q99.8,601803,C0265449,C538105,10080297,8421
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
2744,Horizontal gaze palsy with progressive scoliosis,Disease,Disorder,9C83.00,0011810,H49.4,607313,C1846496,,,12682
2746,Opsismodysplasia,Disease,Disorder,LD24.5Y,0009785,Q78.8,258480,C0432219,C537122,,4098
2971,Peroxisomal acyl-CoA oxidase deficiency,Disease,Disorder,5C57.1,0009919,E71.3,264470,C1849678,C536662,,4543
2970,Prune belly syndrome,Malformation syndrome,Disorder,LD2F.10,0007032,Q79.4,100100,C0033770,D011535,10051025,7479
744,Proteus syndrome,Malformation syndrome,Disorder,LD2C,0008318,Q87.3,176920,C0085261,D016715,10074067,7475
2903,Familial spontaneous pneumothorax,Disease,Disorder,CB21.1,0008259,J93.1,173600,C4275252,,,4997
2901,Neuralgic amyotrophy,Disease,Disorder,8B91.0,0017362,G54.5,162100,C1510479,D020968,10029229,4228
718,Isolated Pierre Robin sequence,Malformation syndrome,Disorder,LA56,0009869,Q87.0,261800,C0031900,D010855,,4347
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
3071,Costello syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009026,Q87.8,218040,C0587248,D056685,10067380,1550
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
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
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,,,
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
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
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
2253,Foveal hypoplasia-presenile cataract syndrome,Disease,Disorder,9C2Y,0016395,H26.0,136520,C2931644,C537858,,406
180188,Isolated congenital breast hypoplasia/aplasia,Morphological anomaly,Disorder,LB60,0015855,Q83.0,616001,C0432357,C562989,,9489
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
180226,Embryonal carcinoma,Disease,Disorder,,0005440,C71.9,,C0206659,D018236,,5140
502,Trichorhinophalangeal syndrome type 2,Malformation syndrome,Disorder,LD24.80,0007874,Q87.8,150230,C0023003,D015826,10050638,7801
180229,Polyembryoma,Disease,Disorder,,0015863,C80.9,,C0334518,,,9621
2370,Larsen-like osseous dysplasia-short stature syndrome,Malformation syndrome,Disorder,LD24.E,0012055,Q74.8,608545,C4707236,,,
477,KID syndrome,Disease,Disorder,LD27.2,0018781,Q80.8,602540,C0265336,C536168,10048786,3113
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
506,Leigh syndrome,Disease,Disorder,5C53.24,0009723,G31.8,256000,C0023264,D007888,10062950,6877
180250,Rare breast tumor,Category,Group of disorders,,,,,C5680484,,,
2430,Congenital macroglossia,Malformation syndrome,Disorder,LA31.0,0007927,Q38.2,153630,C0009677,C531735,,
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
2373,Congenital laryngomalacia,Malformation syndrome,Disorder,LA71.0,0007878,Q31.5,150280,C0345160,D055092,10060786,6865
180234,Mixed germ cell tumor,Disease,Disorder,2D4Y,0015864,C80.9,,C0334524,,,
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
2374,Isolated congenital laryngeal web,Malformation syndrome,Disorder,LA71.Y,0007880,Q31.0,150360,C5924995,,10023871,
180242,Malignant tumor of fallopian tubes,Disease,Disorder,2C74,0002158,C57.0,,C0153579,,10025915,
2466,MASA syndrome,Clinical subtype,Subtype of disorder,8B44.02,0010559,G11.4,303350,C0795953,C536029,,6986
180275,Paget disease of the nipple,Disease,Disorder,2E65.5,0015873,C50.0,,C1704323,D010144,10033364,7303
560,Marshall syndrome,Malformation syndrome,Disorder,LD27.0Y,0007949,Q87.0,154780,C0265235,C536025,,6984
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
1505,Short rib-polydactyly syndrome,Clinical group,Group of disorders,LD24.B0,0015461,,,C0036996,D012779,,
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
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,
612,Potassium-aggravated myotonia,Clinical group,Group of disorders,,0018959,,608390,C2931826,C538353,,4459
179494,Obesity due to leptin receptor gene deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0013992,E66.8,614963,C5191640,,,
716,Phenylketonuria,Disease,Disorder,5C50.0,0009861,E70.1,261600,C0031485,D010661,10034872,7383
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
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
180151,Rare vaginal malformation,Category,Group of disorders,,,,,C5680493,,,
63,Alport syndrome,Disease,Disorder,LD2H.Y,0018965,Q87.8,301050,C1567741,D009394,10001843,5785
54,X-linked recessive ocular albinism,Disease,Disorder,9E1Y,0021019,E70.3,300500,C0342684,C537863,,8471
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,,,
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
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
69,Amyloidosis,Category,Group of disorders,5D00,0019065,E85.0,,C0002726,D000686,10002022,
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,,,
191,Cockayne syndrome,Disease,Disorder,LD2B,0016006,Q87.1,616570,C0009207,D003057,10009835,6122
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,Category,Group of disorders,8C20,,,,C0007959,D002607,,6034
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
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
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,,,
178566,Mycosis fungoides and variants,Clinical group,Group of disorders,2B01,0015821,C84.0,,C1513782,,,
813,Silver-Russell syndrome,Disease,Disorder,LD2F.1Y,0008394,Q87.1,312780,C0175693,D056730,10062282,4870
3169,Sirenomelia,Malformation syndrome,Disorder,LD2F.12,0017850,Q87.2,600145,C0037205,,10072457,7652
816,Sjögren-Larsson syndrome,Disease,Disorder,5C52.03,0010031,Q87.1,270200,C0037231,D016111,10048676,7654
821,Sotos syndrome,Disease,Disorder,LD2C,0019349,Q87.3,117550,C0175695,D058495,10064387,10091
3173,Infantile spasms-broad thumbs syndrome,Disease,Disorder,,0017852,G40.4,,C4749287,,,3002
3204,Stormorken-Sjaastad-Langslet syndrome,Disease,Disorder,3B62.Y,0008497,D69.8,185070,C1861451,C566108,,5188
3205,Sturge-Weber syndrome,Malformation syndrome,Disorder,LD23,0008501,Q85.8,185300,C0038505,D013341,10042265,7706
3320,Thrombocytopenia-absent radius syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010121,Q87.2,274000,C0175703,C536940,10071719,5116
178996,Acquired neutropenia,Category,Group of disorders,4B00.01,,,,C4543729,,,
3346,Tracheal agenesis,Morphological anomaly,Disorder,LA73.Y,0018058,Q32.1,,C1261567,C536975,,5233
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,
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
291,Congenital varicella syndrome,Disease,Disorder,KA62.2,0017372,P35.8,,C4275251,,,45
909,Cerebrotendinous xanthomatosis,Disease,Disorder,5C52.11,0008948,E75.5,213700,C0238052,D019294,,5622
3447,Weaver syndrome,Malformation syndrome,Disorder,LD2C,0010193,Q87.3,277590,C0265210,C536687,10083271,7878
1422,Chondrodysplasia-difference of sex development syndrome,Malformation syndrome,Disorder,LD24.0Y,0010814,Q87.1,600092,C1838654,C536123,,
178478,Infant botulism,Clinical subtype,Subtype of disorder,1A11.1,0015804,A05.1,,C0238027,,,
178481,Intestinal botulism,Clinical subtype,Subtype of disorder,1A11.1,0015805,A05.1,,C1443901,,,
178469,Autosomal dominant non-syndromic intellectual disability,Etiological subtype,Subtype of disorder,LD90.Y,0015802,F70,620114,C5680502,,,12107
178475,Wound botulism,Etiological subtype,Subtype of disorder,1A11.1,0015803,A05.1,,C1306794,,,
178461,X-linked myopathy with postural muscle atrophy,Disease,Disorder,8C70.Y,0010401,G71.0,300696,C2678055,,,
178464,Hereditary myopathy with early respiratory failure,Disease,Disorder,8C70.Y,0011362,G71.0,603689,C1863599,C566343,,12591
178396,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,Disease,Disorder,5C5A,0015801,D68.8,613490,C5190706,,,
178400,Distal myopathy with anterior tibial onset,Disease,Disorder,8C75,0011721,G71.0,606768,C1847532,C564664,,
178382,Congenital vertical talus,Morphological anomaly,Disorder,LB98.4,0008652,Q66.8,192950,C0240912,,10066242,5488
178389,Osteopetrosis-hypogammaglobulinemia syndrome,Disease,Disorder,4A01.0Y,0012859,Q78.2,612301,C4751205,,,10106
62,Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,Disease,Disorder,8C70.41,0011968,G71.0,608099,C2936332,,,438
178364,Syndromic microphthalmia type 5,Malformation syndrome,Disorder,LD21.0,0012413,Q11.2,610125,C1864690,C566441,,3692
715,Glycogen storage disease due to muscle phosphorylase kinase deficiency,Disease,Disorder,5C51.3,0010362,E74.0,300559,C1845151,C564485,,3858
178377,Osteosclerosis-developmental delay-craniosynostosis syndrome,Malformation syndrome,Disorder,LD2F.1Y,0015800,Q75.8,,C4302818,,,
348,"Fructose-1,6-bisphosphatase deficiency",Disease,Disorder,5C51.5Y,0009251,E74.1,229700,C0016756,D015319,10081516,2400
178345,Aromatase excess syndrome,Disease,Disorder,5A92,0007690,E30.1,139300,C1970109,C000591739,,12494
178355,Smith-McCort dysplasia,Disease,Disorder,LD24.3,0015799,Q77.7,615222,C1846431,C564589,,10620
178338,UV-sensitive syndrome,Disease,Disorder,,0015797,L56.8,614640,C1833561,C563466,,10947
3137,Alpha-N-acetylgalactosaminidase deficiency,Disease,Disorder,5C56.21,0017779,E77.1,609242,C5848084,,,
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
732,Polymyositis,Disease,Disorder,4A41.1,0019127,M33.2,,C0085655,D017285,10036102,7425
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
598,Multiminicore myopathy,Disease,Disorder,8C72.0Y,0018948,G71.2,602771,C0270962,,,
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
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,,
178512,Folliculotropic mycosis fungoides,Disease,Disorder,2B01,0015808,C84.0,,C1627767,,,
178509,Perry syndrome,Disease,Disorder,8A00.1Y,0008201,G23.8,168605,C1868594,C566822,10079207,10453
178506,Interstitial lung disease-brain calcification syndrome,Disease,Disorder,LD20.4,,G93.8,613658,C3150910,,,
178503,Dursun syndrome,Malformation syndrome,Disorder,,,,,C2751630,,,
611,Inclusion body myositis,Disease,Disorder,4A41.20,0007827,M60.8,147421,C0238190,D018979,10066407,3896
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,,,
177926,Bleeding disorder in hemophilia A carriers,Clinical subtype,Subtype of disorder,3B10.0,,D66,306700,C5680504,,,
581,Mucopolysaccharidosis type 3,Disease,Disorder,5C56.3Y,0018937,E76.2,252940,C0026706,D009084,10056890,3807
177929,Bleeding disorder in hemophilia B carriers,Clinical subtype,Subtype of disorder,3B11.0,,D67,306900,C5680505,,,
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
666,Osteogenesis imperfecta,Disease,Disorder,LD24.K0,0019019,Q78.0,259440,C0029434,D010013,10031243,1017
178029,Arginine vasopressin deficiency,Disease,Disorder,5A61.5,0015790,E23.2,304900,C0687720,D020790,10068587,6015
177901,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,Etiological subtype,Subtype of disorder,LD90.3,0015783,Q87.1,615547,C5680507,,,
423,Malignant hyperthermia of anesthesia,Disease,Disorder,8C78,0018493,T88.3,601888,C0024591,D008305,10020844,6964
177904,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,Etiological subtype,Subtype of disorder,LD90.3,0015784,Q87.1,615547,C5680508,,,
418,Congenital adrenal hyperplasia,Clinical group,Group of disorders,5A71.01,0018479,E25.0,613571,C0001627,D000312,10010323,1467
177907,Prader-Willi syndrome due to translocation,Etiological subtype,Subtype of disorder,LD90.3,0015785,Q87.1,176270,C5680509,,,
177910,Prader-Willi syndrome due to imprinting mutation,Etiological subtype,Subtype of disorder,LD90.3,0015786,Q87.1,176270,C5680510,,,
216,Neuronal ceroid lipofuscinosis,Clinical group,Group of disorders,5C56.1,0016295,E75.4,,C0027877,D009472,10074607,10739
364,Glycogen storage disease due to glucose-6-phosphatase deficiency,Disease,Disorder,5C51.3,0002413,E74.0,232240,C0017920,D005953,10018464,
177101,Rare adult hypothyroidism,Category,Group of disorders,,,,,C5680511,,,
355,Gaucher disease,Disease,Disorder,5C56.0Y,0018150,E75.2,610539,C0017205,D005776,10018048,8233
388,Hirschsprung disease,Disease,Disorder,LB16.1,0018309,Q43.1,613870,C0019569,D006627,10010539,6660
177107,Syndromic hypothyroidism,Category,Group of disorders,,,,,C5680512,,,
448,Hemophilia,Clinical group,Group of disorders,,0018660,,,C0684275,,10061992,10418
304,Epidermolysis bullosa simplex,Clinical group,Group of disorders,EC30,0017610,Q81.0,,C0079298,D016110,,10752
174590,Congenital hypogonadotropic hypogonadism,Category,Group of disorders,,0015770,,,C3899503,,10083932,
354,GM1 gangliosidosis,Disease,Disorder,5C56.00,0018149,E75.1,230650,C0085131,D016537,,10891
178320,Acute lung injury,Particular clinical situation in a disease or syndrome,Disorder,NB32.3,0015796,S27.3,,C0242488,D055371,10069351,
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
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
178330,OBSOLETE: Heinz body anemia,Disease,Disorder,,,,,,,,
270,Oculopharyngeal muscular dystrophy,Disease,Disorder,9C82.1,0008116,G71.0,164300,C0270952,D039141,10052181,7245
178303,8q22.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.80,0011977,Q93.5,608156,C1842464,C536110,,4722
244,Primary ciliary dyskinesia,Disease,Disorder,LA75.Y,0016575,Q34.8,620642,C4551720,,10069713,4484
178148,Antenatal multiminicore disease with arthrogryposis multiplex congenita,Clinical subtype,Subtype of disorder,8C72.0Y,0015794,G71.2,,C1843691,C537474,,
178311,Isolated sternocostoclavicular hyperostosis,Disease,Disorder,,0044355,M85.8,,C4707796,,,
178307,Reticulate acropigmentation of Kitamura,Disease,Disorder,,0014234,L81.8,615537,C0406811,,,
589,Myasthenia gravis,Disease,Disorder,8C60,0009688,G70.0,254200,C0026896,D009157,10028417,7122
805,Tuberous sclerosis complex,Disease,Disorder,LD2D.2,0001734,Q85.1,613254,C0041341,D014402,10080584,7830
886,Usher syndrome,Disease,Disorder,LD2H.4,0019501,H35.5,611383,C0271097,D052245,10063396,7843
178145,Moderate multiminicore disease with hand involvement,Clinical subtype,Subtype of disorder,8C72.0Y,0015793,G71.2,117000,C1861753,C566147,,
3440,Waardenburg syndrome,Disease,Disorder,EC23.2Y,0018094,E70.3,611584,C3266898,D014849,10069203,5525
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
738,Porphyria,Clinical group,Group of disorders,5C58.1,,E80.2,,C5848305,D011164,10036181,10353
768,Congenital long QT syndrome,Clinical group,Group of disorders,BC65.0,0019171,,611819,C1141890,,10057926,
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
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
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
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
2406,Locked-in syndrome,Clinical syndrome,Disorder,8E45,0016567,G83.8,,C0023944,D000080422,10024792,6919
509,Leptospirosis,Disease,Disorder,1B91,0005825,A27.0,,C0023364,D007922,10024238,7881
761,Immunoglobulin A vasculitis,Disease,Disorder,4A44.92,0019167,D69.0,,C0034152,D011695,10082960,8204
2131,Alternating hemiplegia of childhood,Disease,Disorder,MB53.0,0016241,G98,614820,C0338488,C536589,10077948,11
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
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
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
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
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
171929,Trisomy 10p syndrome,Malformation syndrome,Disorder,LD41.91,0015761,Q92.2,,C4082793,,,5299
187,Citrullinemia,Category,Group of disorders,5C50.A3,0015991,,,C0175683,D020159,,
46,Adenylosuccinate lyase deficiency,Disease,Disorder,5C55.0Y,0007068,E79.8,103050,C0268126,C538235,10081681,550
442,Congenital hypothyroidism,Category,Group of disorders,5A00.0,0018612,,,C0010308,D003409,10010510,1487
43,X-linked adrenoleukodystrophy,Disease,Disorder,5C57.1,,E71.3,302700,C0162309,D000326,10051260,5758
3166,Sialuria,Disease,Disorder,5C56.4,0010028,E77.8,269921,C0342853,,,4865
2882,Sitosterolemia,Disease,Disorder,5C52.1Y,0008863,E78.0,618666,C0342907,C537345,10063985,7653
810,Shigellosis,Disease,Disorder,1A02,0019345,A03.3,,C0013371,,10054178,4818
3165,Eosinophilic fasciitis,Disease,Disorder,4A43.4,0009175,M35.4,226350,C0264005,C562487,10014954,6351
2420,Primary pulmonary lymphoma,Disease,Disorder,2C25.Y,0016570,C85.7,,C4273669,,10037418,
727,Microscopic polyangiitis,Disease,Disorder,4A44.A0,0019124,M31.7,,C2347126,D055953,10063344,3652
900,Granulomatosis with polyangiitis,Disease,Disorder,4A44.A1,0012105,M31.3,608710,C3495801,D014890,10072579,7880
3185,NON RARE IN EUROPE: Polycystic ovary syndrome,Disease,Disorder,,,E28.2,,,,,
863,Trichinellosis,Disease,Disorder,1F6E,0019444,B75,,C0040896,D014235,10044608,5250
171695,Parkinsonian-pyramidal syndrome,Disease,Disorder,8A00.1Y,0009830,G20,260300,C1850100,C538104,,9175
134,Beta-ketothiolase deficiency,Disease,Disorder,5C50.DY,0008760,E71.1,203750,C1536500,C535434,10067728,872
171700,Diffuse panbronchiolitis,Disease,Disorder,CA26.1,0011490,J44.8,604809,C0878555,C536174,10062952,8526
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,,,
171706,Short stature-delayed bone age due to thyroid hormone metabolism deficiency,Disease,Disorder,5A00.0Y,,E03.1,609698,C4706661,,,
171709,Male infertility due to globozoospermia,Clinical subtype,Subtype of disorder,,0015746,N46,613958,C5679591,,,12502
171714,Amish infantile epilepsy syndrome,Disease,Disorder,,,,,C1836824,,,
171719,Cutis laxa-Marfanoid syndrome,Malformation syndrome,Disorder,LD28.2,0013574,Q87.8,614100,C0432335,C563639,,
1163,Aspergillosis,Disease,Disorder,1F20.1,0005657,B44.9,614079,C0004030,D001228,10003488,5856
171723,White sponge nevus,Disease,Disorder,DA02.0,0015748,Q38.6,615785,C1721005,D053529,10072666,8501
3467,Hereditary xanthinuria,Disease,Disorder,5C55.00,0018106,E79.8,603592,C5779508,,,
171673,Limbal stem cell deficiency,Disease,Disorder,9A7Y,0025667,H18.7,,C1561989,D000092423,10072138,
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
171680,Lissencephaly due to TUBA1A mutation,Malformation syndrome,Disorder,LD20.1,0012703,Q04.3,611603,C4305153,,,
32,Glutathione synthetase deficiency,Disease,Disorder,3A10.0Y,0017909,D55.1,266130,C0398746,C536835,10079364,10047
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,,
26,Methylmalonic acidemia with homocystinuria,Disease,Disorder,5C50.E0,0016826,E71.1,614857,C5848324,C537359,,3579
171863,Autosomal dominant spastic paraplegia type 42,Disease,Disorder,8B44.00,0012928,G11.4,612539,C2675528,C567262,,
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
322,Exstrophy-epispadias complex,Malformation syndrome,Disorder,,0017919,Q64.1,600057,C1838703,C564009,,2207
171866,"Spondyloepimetaphyseal dysplasia, aggrecan type",Disease,Disorder,LD24.3,0013014,Q77.7,612813,C2748544,C567558,,10513
2368,Gastroschisis,Morphological anomaly,Disorder,LB02,0009264,Q79.3,230750,C0265706,D020139,10018046,8661
171881,Cap myopathy,Disease,Disorder,8C72.0Y,0015753,G71.2,609285,C3710589,C579969,,11915
2512,Autosomal recessive primary microcephaly,Etiological subtype,Subtype of disorder,LA05.0,0016660,Q02,617432,C3711387,C579935,,12117
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
795,Rare form of salmonellosis,Category,Group of disorders,,,,,C5680518,,10039447,
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
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,
171829,6q16 microdeletion syndrome,Disease,Disorder,LD29,0015749,Q93.5,,C5438727,,,
1201,Small bowel atresia,Morphological anomaly,Disorder,LB15.1,0009476,Q41.2,243600,C0266172,C538260,10010626,140
171844,Blindness-scoliosis-arachnodactyly syndrome,Malformation syndrome,Disorder,LD28.Y,0012907,Q87.5,612445,C4303548,,,
171839,Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,Malformation syndrome,Disorder,LD2F.1Y,0015751,Q87.8,,C3267187,,,
1202,Larynx atresia,Malformation syndrome,Disorder,LA71.Y,0007879,Q31.8,150300,C0265756,,,3194
1199,Esophageal atresia,Morphological anomaly,Disorder,LB12.1,,Q39.0,189960,C0014850,D004933,10030146,6381
171851,MEDNIK syndrome,Disease,Disorder,LD2H.Y,0012251,E83.0,609313,C1836330,,,
171848,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,Disease,Disorder,LD2H.Y,0012984,G60.1,612674,C4509920,,,
1304,Brucellosis,Disease,Disorder,1B95,0005683,A23.2,,C0006309,D002006,10006500,5966
173,Cholera,Disease,Disorder,1A00,0015766,A00.0,,C0008354,D002771,10008631,6043
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
200418,Immunodeficiency with factor I anomaly,Disease,Disorder,4A00.1Y,0012594,D84.1,610984,C5191010,,,
730,Autosomal dominant polycystic kidney disease,Disease,Disorder,GB81,0004691,Q61.2,620903,C0085413,D016891,10036046,10413
200421,Immunodeficiency with factor H anomaly,Disease,Disorder,4A00.1Y,0016061,D84.1,609814,C0398777,C562875,,
486,Autosomal dominant severe congenital neutropenia,Disease,Disorder,4B00.00,0008742,D70,613107,C4749612,,,9558
1209,Tricuspid atresia,Morphological anomaly,Disorder,LA89.1,0011514,Q22.4,605067,C0243002,D018785,10049767,5274
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
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,
330,Congenital factor XII deficiency,Disease,Disorder,3B15,0009315,D68.2,234000,C0015526,D005175,10051806,6558
1482,Gonococcal conjunctivitis,Disease,Disorder,1A72.4,0015455,H13.1*,,C5779547,D009878,,2546
1959,Evans syndrome,Disease,Disorder,3A20.5,0016030,D69.3,,C0272126,C536380,10053873,6389
284,Alveolar echinococcosis,Disease,Disorder,1F73.Y,0017282,B67.5,,C0152069,C536591,10053042,207
1177,Early-onset cerebellar ataxia with retained tendon reflexes,Disease,Disorder,8A03.1Y,0008938,G11.1,212895,C0393520,C535633,,2600
828,Stickler syndrome,Disease,Disorder,LD2F.1Y,0019354,Q87.0,614284,C0265253,,10063402,10782
1431,Paroxysmal dyskinesia,Clinical group,Group of disorders,,0015427,,,C0752210,D002819,,
199340,BAG3-related myofibrillar myopathy,Disease,Disorder,8C76,0013061,G71.8,612954,C4509880,,,
293,Congenital herpes simplex virus infection,Disease,Disorder,1F00.Y,0017381,P35.2,,C4275250,,,
199337,Pancreatic insufficiency-anemia-hyperostosis syndrome,Disease,Disorder,5C53.2Y,0012992,E88.8,612714,C2675184,,,
234,Dubin-Johnson syndrome,Disease,Disorder,5C58.02,0009380,E80.6,237500,C0022350,D007566,10013800,2793
199348,Thiamine-responsive encephalopathy,Disease,Disorder,,,E51.2,607483,C5848322,,,
3287,Takayasu arteritis,Disease,Disorder,4A44.1,0017991,M31.4,207600,C0039263,D013625,10043097,7730
199343,EAST syndrome,Disease,Disorder,LD2H.Y,0013005,G40.4,612780,C2748572,C557674,,10514
2800,Extramammary Paget disease,Disease,Disorder,2E64.1,0008177,C44.5,167300,C0030186,D010145,10068223,4192
199326,"Isolated autosomal dominant hypomagnesemia, Glaudemans type",Disease,Disorder,5C64.41,0016048,E83.4,,C4305155,,,
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
199332,Endocrine-cerebro-osteodysplasia syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012980,Q87.8,612651,C4509819,,,
199329,"Congenital myopathy, Paradas type",Disease,Disorder,8C70.6,0016049,G71.2,,C4511057,,,
2665,Congenital mesoblastic nephroma,Disease,Disorder,2C90.Y,0017043,D41.0,,C1332965,D018201,10070665,1493
3463,Wolfram syndrome,Disease,Disorder,5A61.5,0018105,E34.8,604928,C0043207,D014929,10078338,7898
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
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
704,Pemphigus vulgaris,Disease,Disorder,EB40.0,0008219,L10.0,169610,C0030809,,10052802,4270
199354,Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,Disease,Disorder,8B22.C1,0010829,I67.8,600142,C1838577,C563990,10081315,10424
199351,Adult-onset dystonia-parkinsonism,Disease,Disorder,8A00.1Y,0013060,G24.1,612953,C2751842,C567844,,12568
356,Gerstmann-Straussler-Scheinker syndrome,Disease,Disorder,8E02.1,0007656,A81.8,606688,C0017495,D016098,10072075,7690
466,Fatal familial insomnia,Disease,Disorder,8E02.2,0010808,A81.8,600072,C0206042,D034062,10072077,6429
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,,,
3452,Whipple disease,Disease,Disorder,DA96.0Y,0005116,K90.8+,,C0023788,D008061,10047931,7889
199282,Harlequin syndrome,Disease,Disorder,EE01.0,0016040,G90.8,,C2029348,C535634,10076575,8610
199285,Hereditary hypercarotenemia and vitamin A deficiency,Disease,Disorder,5C63.Y,0007272,E50.8,277350,C4511672,,,
2331,Kawasaki disease,Disease,Disorder,4A44.5,0012727,M30.3,611775,C0026691,D009080,10023320,6816
199276,Familial multiple lipomatosis,Disease,Disorder,2E80.0Z,0007909,E88.2,151900,C1275273,D000071070,10081235,12925
2102,GTP cyclohydrolase I deficiency,Clinical subtype,Subtype of disorder,5C59.01,0100186,E70.1,233910,C0268467,C562656,,2844
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
199267,Infantile digital fibromatosis,Disease,Disorder,EE6Y,0016039,M72.8,,C1318562,,,8487
199315,Familial clubfoot with or without associated lower limb anomalies,Malformation syndrome,Disorder,LB98.Y,0016046,Q66.8,613618,C5680522,,,
2040,Congenital respiratory-biliary fistula,Morphological anomaly,Disorder,LA74.Y,0016080,Q32.4,,C5231000,,,1475
199318,15q13.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.F,0012774,Q93.5,612001,C2677613,C567439,10090652,10296
199310,Tetragametic chimerism syndrome,Malformation syndrome,Disorder,LD56,0016045,Q99.0,,C0432480,,,
2357,Bronchogenic cyst,Morphological anomaly,Disorder,CB40.Y,0016523,J98.4,,C0006281,D001994,10064585,1025
274,Bernard-Soulier syndrome,Disease,Disorder,3B62.01,0009276,D69.1,231200,C0005129,D001606,10057473,2470
1195,Congenital atransferrinemia,Disease,Disorder,5D0Y,0008846,E88.0,209300,C0521802,C538259,10083911,9595
199302,Isolated cleft lip,Morphological anomaly,Disorder,LA40,0016043,Q36.9,612858,C1837217,,10009259,
199306,Cleft lip/palate,Morphological anomaly,Disorder,LA40,0016044,Q37.3,616788,C0158646,,10009260,
926,Acatalasemia,Disease,Disorder,5C57.1,0013571,E80.3,614097,C0268419,D020642,10086141,363
3020,Ramsay Hunt syndrome,Disease,Disorder,8B88.Y,0005769,G53.0*,,C0017409,,,7525
199296,Congenital isolated ACTH deficiency,Disease,Disorder,5A74.Y,0008720,E23.6,201400,C4055196,,,5727
1531,Craniosynostosis,Category,Group of disorders,LB70.0,0015469,Q75.0,,C0010278,D003398,10049889,6209
199299,Late-onset isolated ACTH deficiency,Disease,Disorder,5A61.0,0016042,E23.6,,C4751433,,,
1675,Dihydropyrimidine dehydrogenase deficiency,Disease,Disorder,5C55.1,0010130,E79.8,274270,C1959620,D054067,10052622,19
189427,Cushing syndrome due to bilateral macronodular adrenocortical disease,Disease,Disorder,5A70.Y,9049,E24.8,219080,C2062388,,,10824
976,Adenine phosphoribosyltransferase deficiency,Disease,Disorder,5C55.0Y,0013869,E79.8,614723,C0268120,C538228,10072609,546
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
415,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,Disease,Disorder,5C50.AY,0009393,E72.4,238970,C0268540,C538380,10084220,2830
13,6-pyruvoyl-tetrahydropterin synthase deficiency,Clinical subtype,Subtype of disorder,5C59.01,0009863,E70.1,261640,C0878676,C535325,,5682
199257,Superficial fibromatosis,Clinical group,Group of disorders,,0016037,,,C0406571,,,
2494,Ménétrier disease,Disease,Disorder,DA42.6,0007652,K29.6,137280,C0017155,,,2436
171,Primary sclerosing cholangitis,Disease,Disorder,DB96.2,0013433,K83.0,613806,C0566602,,10036732,1280
199251,Ledderhose disease,Disease,Disorder,FB51.Y,0004684,M72.2,,C0158360,D000071380,10035154,6873
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
199244,Nelson syndrome,Clinical syndrome,Disorder,5A70.3,0016035,E24.1,,C0027577,D009347,10028913,7170
199241,Pulmonary capillary hemangiomatosis,Disease,Disorder,BB01.0,9329,D18.0,234810,C0340548,C535861,10077389,
2134,Atypical hemolytic uremic syndrome,Disease,Disorder,3A10.Y,0016244,D59.3,612926,C2931788,D065766,10079840,8702
189466,Familial isolated hypoparathyroidism due to impaired PTH secretion,Clinical subtype,Subtype of disorder,5A50.0Y,0016000,E20.8,146200,C5680524,,,
17,Fatal infantile lactic acidosis with methylmalonic aciduria,Disease,Disorder,5C53.20,0009504,E71.1,245400,C4275183,,,3163
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
780,Rhabdomyosarcoma,Disease,Disorder,2B55.2,0005212,C49.9,180295,C0035412,D012208,10039022,
3111,Rotor syndrome,Disease,Disorder,5C58.0Y,0009379,E80.6,237450,C0220991,,10039234,218
2382,Lennox-Gastaut syndrome,Disease,Disorder,8A62.1,0016532,G40.4,617113,C0238111,D065768,10048816,9912
2806,Subacute sclerosing leukoencephalitis,Disease,Disorder,8A45.01,0009835,A81.1,260470,C0038522,D013344,10042297,7708
2467,Systemic mastocytosis,Clinical group,Group of disorders,2A21.0,0016586,C96.2,,C0221013,D034721,10042949,8616
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
845,Tay-Sachs disease,Disease,Disorder,5C56.00,0010100,E75.0,272800,C0039373,D013661,10043147,7737
1942,Epilepsy with myoclonic-atonic seizures,Disease,Disorder,8A61.22,0016025,G40.4,618587,C0393702,,10081179,2169
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
3451,West syndrome,Clinical syndrome,Disorder,8A62.0,0018097,,,C0037769,D013036,10021750,7887
3299,Tetanus,Disease,Disorder,1C13,0005526,A35,,C0039614,D013742,10043376,5144
2302,Asbestos intoxication,Disease,Disorder,CA60.2,0016466,J61,,C0003949,D001195,10003441,5852
770,Rabies,Disease,Disorder,1C82,0019173,A82.9,,C0034494,D011818,10037742,7516
3386,American trypanosomiasis,Disease,Disorder,1F53,0001444,B57.5,,C0041234,D014355,10001935,
267,Calpain-3-related limb-girdle muscular dystrophy R1,Disease,Disorder,8C70.41,0009675,G71.0,253600,C1869123,C535895,,1057
1329,Complete atrioventricular septal defect,Morphological anomaly,Disorder,LA87.43,0015273,Q21.2,,C0344787,,,1454
582,Mucopolysaccharidosis type 4,Disease,Disorder,5C56.32,0018938,E76.2,253010,C0026707,D009085,10028095,12562
2137,Autoimmune hepatitis,Disease,Disorder,DB96.0,0016264,K75.4,,C4721555,,10003827,5871
186,Primary biliary cholangitis,Disease,Disorder,DB96.1,0005388,K74.3,614221,C0008312,D008105,10080429,7459
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
2932,Chronic inflammatory demyelinating polyneuropathy,Disease,Disorder,8C01.3,0006702,G61.8,,C0393819,D020277,10057645,6102
2398,Multiple symmetric lipomatosis,Disease,Disorder,EF02.1,0007908,E88.8,151800,C0023804,D008069,,6957
1656,Dermatitis herpetiformis,Disease,Disorder,EB44,0015614,L13.0,601230,C0011608,D003874,10012468,1917
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
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
131,Budd-Chiari syndrome,Disease,Disorder,DB98.5,0010947,I82.0,600880,C0856761,D006502,10006537,5968
646,Niemann-Pick disease type C,Disease,Disorder,5C56.0Y,0018982,E75.2,607625,C0220756,D052556,,7207
654,Nephroblastoma,Disease,Disorder,2C90.Y,0019004,C64,616806,C0027708,D009396,10029145,7892
1489,Whooping cough,Disease,Disorder,1C12.0,0005077,A37.9,,C0043167,D014917,10047974,8692
2764,Osteochondritis dissecans,Disease,Disorder,FB82.1,0017178,M93.2,,C0029421,D010008,10031231,12703
2587,Myeloperoxidase deficiency,Disease,Disorder,4A00.0Y,0009694,E80.3,254600,C0398595,C562864,10074767,3868
3389,Tuberculosis,Clinical group,Group of disorders,,0018076,A15,607948,C0041296,D014376,10044755,
1679,Diphtheria,Disease,Disorder,1C17.Y,0005504,A36.9,,C0012546,D004165,10013023,1875
1267,Botulism,Disease,Disorder,1A11,0005498,A05.1,,C0006057,D001906,10006041,943
2897,Pityriasis rubra pilaris,Disease,Disorder,EA94,,L44.0,173200,C0032027,D010916,10035116,7401
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
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
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
183707,Infantile LAD-like disease due to RAC2 deficiency,Disease,Disorder,4A00.00,0011988,D71,608203,C5924996,C564275,,
2314,Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency,Disease,Disorder,4A01.34,0007818,D82.4,147060,C2936739,D007589,,6800
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,,,
449,Hepatoblastoma,Disease,Disorder,2C12.01,0018666,C22.2,114550,C0206624,D018197,10062001,2657
183675,Recurrent infections associated with rare immunoglobulin isotypes deficiency,Disease,Disorder,4A01.04,0013576,D80.8,614102,C3279824,C564131,,
2177,Hydranencephaly,Malformation syndrome,Disorder,LA05.62,0016344,Q04.3,605013,C0020225,D006832,10073472,6681
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
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
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
683,Progressive supranuclear palsy,Disease,Disorder,8A00.10,0019037,G23.1,609454,C0038868,D013494,10036813,7471
677,Pancreatoblastoma,Disease,Disorder,2C10.0,0019035,C25.1,,C0334489,C537162,10073367,4210
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
897,Waardenburg-Shah syndrome,Disease,Disorder,LD2H.3,0019518,Q87.8,613266,C1848519,C536467,,5524
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
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
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
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
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
140,Campomelic dysplasia,Malformation syndrome,Disorder,LD2A.Y,0007251,Q87.1,602196,C1861922,D055036,,10027
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,,,
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
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
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
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
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
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,
427,Familial hypoaldosteronism,Disease,Disorder,5A73,0018541,E27.4,610600,C4275180,,,
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
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
183536,Genetic congenital limb malformation,Category,Group of disorders,,,,,C5680557,,,
180,Choroideremia,Disease,Disorder,9B61,0010557,H31.2,303100,C0008525,D015794,10008791,6061
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
253,Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,Clinical group,Group of disorders,LD24.3,,Q77.7,,C5679593,,,7687
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
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
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
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
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
183494,Genetic immune deficiency with skin involvement,Category,Group of disorders,,,,,C5680569,,,
146,Differentiated thyroid carcinoma,Disease,Disorder,,0015447,C73,607464,C1337013,,,12027
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
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
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
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
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
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
392,Holt-Oram syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007732,Q87.2,142900,C0265264,C535326,10050469,6666
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
86,Familial abdominal aortic aneurysm,Disease,Disorder,BD50.4Z,0007031,I71.4,614375,C4275172,,,9181
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
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,,,
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
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
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
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
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
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
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,
182108,Thoracic malformation,Category,Group of disorders,,0015929,,,C5680597,,,
71,Chylomicron retention disease,Disease,Disorder,5C81.1,0009528,E78.6,246700,C0795956,C535460,,9683
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
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
1473,Uveal coloboma-cleft lip and palate-intellectual disability,Malformation syndrome,Disorder,LD2F.1Y,0007355,Q13.8,120433,C4305003,,,1440
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,
182050,MYH9-related syndromic thrombocytopenia,Disease,Disorder,3B64.01,0015912,D69.4,155100,C5200934,C535507,10079437,180
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
181425,OBSOLETE: Rare major hypertriglyceridemia,Category,Group of disorders,,,,,,,,
181428,Familial Hyperalphalipoproteinemia,Biological anomaly,Disorder,5C80.3,0015903,,614028,C0342883,,,
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
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
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
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
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
181408,Rare hyperparathyroidism,Category,Group of disorders,,,,,C5680614,,,
1597,Distal deletion 17q syndrome,Malformation syndrome,Disorder,LD44.H0,0015562,Q93.5,,C4275171,,,10972
1590,Distal deletion 13q syndrome,Malformation syndrome,Disorder,LD44.D,0011248,Q93.5,602553,C4706502,,,
1587,Monosomy 13q14 syndrome,Malformation syndrome,Disorder,LD44.D,0013481,Q93.5,613884,C4749304,,,
1625,OBSOLETE: Deletion 4q,Malformation syndrome,Disorder,,,,,,,,
1621,3q13 microdeletion syndrome,Malformation syndrome,Disorder,LD44.30,0014185,Q93.5,615433,C2931338,C536808,,
1620,Distal deletion 3p syndrome,Malformation syndrome,Disorder,,0013424,Q87.8,613792,C4706503,,,3750
1611,OBSOLETE: Deletion 20p,Malformation syndrome,Disorder,,,,,,,,
1643,Xp22.3 microdeletion syndrome,Malformation syndrome,Disorder,,0015606,Q99.8,,C4512072,,,
1627,Deletion 5q35 syndrome,Malformation syndrome,Disorder,LD44.50,0015571,Q93.5,,C2931574,C537647,,
1699,Trisomy 12p syndrome,Malformation syndrome,Disorder,LD41.B1,0015723,Q92.3,,C0795845,C538299,,5305
1695,Non-distal duplication 10q syndrome,Malformation syndrome,Disorder,,0015712,Q92.3,,C4749376,,,
500,Noonan syndrome with multiple lentigines,Malformation syndrome,Disorder,LD2F.1Y,0007893,Q87.1,613707,C0175704,D044542,10062901,1100
507,Leishmaniasis,Disease,Disorder,1F54.1,0011989,B55.9,608207,C0023281,D007896,10024198,6881
548,Leprosy,Disease,Disorder,1B20,0005124,A30.9,613407,C0023343,D007918,10024229,6886
233,Duane retraction syndrome,Malformation syndrome,Disorder,9C82.2,0007473,H50.8,616219,C0013261,D004370,10013799,6288
657,Congenital isolated hyperinsulinism,Clinical group,Group of disorders,,0019010,,,C3888018,D044903,,3947
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
569,Familial or sporadic hemiplegic migraine,Disease,Disorder,8A80.10,0018925,G43.1,609634,C0270862,,,10768
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
240,Léri-Weill dyschondrosteosis,Malformation syndrome,Disorder,LD24.A,0007481,Q77.8,127300,C0265309,C537119,,3224
2311,Autosomal recessive spondylocostal dysostosis,Malformation syndrome,Disorder,LD24.H,0010180,Q76.8,616566,C0265343,C537565,,6798
358,Gitelman syndrome,Disease,Disorder,5C64.41,0009904,N15.8,263800,C0268450,D053579,10062906,8547
242,"46,XY complete gonadal dysgenesis",Malformation syndrome,Disorder,LD2A.1,0010765,Q99.1,616425,C2936694,,10084327,5068
2052,Fraser syndrome,Malformation syndrome,Disorder,LD2H.0,0009046,Q87.0,219000,C0265233,D058497,10080219,6465
1354,Heart defects-limb shortening syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008917,,212135,C1859327,C535850,,2613
1358,Carey-Fineman-Ziter syndrome,Malformation syndrome,Disorder,LD2F.1Y,0031415,Q87.0,619941,C1850746,C536102,,3889
557,Non-syndromic anorectal malformation,Clinical group,Group of disorders,LB17.0,,,301800,C5680419,C537771,,
111,Barth syndrome,Disease,Disorder,5C50.E0,0010543,E71.1,302060,C0574083,D056889,10078537,5890
10,"48,XXYY syndrome",Malformation syndrome,Disorder,LD50.3Y,0015028,Q98.8,,C2936741,D007713,10048230,5677
1308,C syndrome,Malformation syndrome,Disorder,LD24.GY,0008893,Q87.8,211750,C0796095,C537418,10083975,5978
150,Nasopharyngeal carcinoma,Disease,Disorder,2E60.0,0015459,C11.3,617075,C2931822,D000077274,10028793,7163
133,Chronic beryllium disease,Disease,Disorder,CA60.6,0015274,J63.2,,C0221052,D001607,10004485,867
1552,Currarino syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008305,Q87.8,176450,C1531773,C536221,10079857,1626
1450,Ring chromosome 8 syndrome,Malformation syndrome,Disorder,LD7Y,0015443,Q93.2,,C4274902,C537824,,1347
1448,Ring chromosome 6 syndrome,Malformation syndrome,Disorder,LD7Y,0015440,Q93.2,,C0795814,C537763,,6095
1581,Non-distal deletion 10q syndrome,Malformation syndrome,Disorder,LD44.A0,0015546,Q93.5,,C4749375,,,
1580,Distal deletion 10p syndrome,Clinical group,Group of disorders,LD44.A1,0011055,Q93.5,,C4304502,,,1323
1437,Ring chromosome 1 syndrome,Malformation syndrome,Disorder,LD7Y,0015430,Q93.2,,C0265395,C535361,,1320
172,Progressive familial intrahepatic cholestasis,Disease,Disorder,5C58.03,0015762,K76.8,619484,,,10076033,
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
1444,Ring chromosome 20 syndrome,Malformation syndrome,Disorder,LD7Y,0015436,Q93.2,,C0265482,C580424,,1334
1439,Ring chromosome 12 syndrome,Malformation syndrome,Disorder,LD7Y,0015432,Q93.2,,C5201040,,,1325
1438,Ring chromosome 10 syndrome,Malformation syndrome,Disorder,LD7Y,0015431,Q93.2,,C0265438,C538086,,1322
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
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
3375,Trisomy X syndrome,Malformation syndrome,Disorder,LD50.1,0018066,Q97.0,,C0221033,C535318,10076910,5672
3310,Tetrasomy 9p syndrome,Malformation syndrome,Disorder,LD7Y,0018030,Q99.8,,C0795832,C538027,,42
3000,Familial peripheral male-limited precocious puberty,Disease,Disorder,5A81.0,,E30.1,176410,C0342549,C536961,10063654,4475
680,Normokalemic periodic paralysis,Disease,Disorder,,,,170600,C0268445,,,
3305,Tetraploidy syndrome,Malformation syndrome,Disorder,LD42.1,0018026,Q92.7,,C0333694,D057891,,5151
3176,Spina bifida-hypospadias syndrome,Malformation syndrome,Disorder,,0017857,Q05.9,,C4706660,,,4940
1708,Mosaic trisomy 16 syndrome,Malformation syndrome,Disorder,LD40.Y,0015729,Q92.1,,C4707009,,,
1711,Mosaic trisomy 17 syndrome,Malformation syndrome,Disorder,LD40.Y,0015730,Q92.1,,C1096168,,,5317
3376,Triploidy syndrome,Malformation syndrome,Disorder,LD42.0,0018067,Q92.7,,C0333693,D057885,,5295
1692,Mosaic trisomy 1 syndrome,Malformation syndrome,Disorder,LD40.Y,0015706,Q92.1,,C5394675,,,
1698,Mosaic trisomy 12 syndrome,Malformation syndrome,Disorder,LD40.Y,0015718,Q92.1,,C4706889,,,5304
1706,Mosaic trisomy 15 syndrome,Malformation syndrome,Disorder,LD40.Y,0015727,Q92.1,,C2931707,C538037,,5313
916,Aase-Smith syndrome type 1,Malformation syndrome,Disorder,,0007839,Q87.8,147800,C0220686,C535332,10063429,5642
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
1445,Ring chromosome 21 syndrome,Malformation syndrome,Disorder,LD7Y,0015437,Q93.2,,C0265487,C537109,,6083
7,3C syndrome,Malformation syndrome,Disorder,,0019078,Q87.8,619435,C0796137,C535313,,5666
931,Isolated acheiropodia,Morphological anomaly,Disorder,LB9B,0008700,Q74.8,200500,C5924998,C536014,,376
929,Achalasia-microcephaly syndrome,Malformation syndrome,Disorder,,0008699,Q39.5,200450,C1860212,C536010,,456
869,Triple A syndrome,Disease,Disorder,5A74.Y,0009279,E27.4,615510,C0271742,C536008,10073592,457
2297,Insulin-resistance syndrome type A,Disease,Disorder,5A44,0012520,E34.8,610549,C0342336,,,3008
922,Familial nasal acilia,Disease,Disorder,LA75.Y,0019634,Q30.8,,C4706505,,,2254
921,Abruzzo-Erickson syndrome,Malformation syndrome,Disorder,,0010554,Q87.8,302905,C1844862,C535559,,360
27,Vitamin B12-unresponsive methylmalonic acidemia,Disease,Disorder,5C50.E0,0009612,E71.1,251000,C2931536,C537573,,3586
939,3-hydroxyisobutyric aciduria,Disease,Disorder,5C50.E0,0009371,E71.1,236795,C0342737,C535312,,5662
31,Oxoglutaric aciduria,Disease,Disorder,5C53.1,0008759,E88.8,203740,C2752074,C536582,,617
935,Short-limb skeletal dysplasia with severe combined immunodeficiency,Disease,Disorder,4A01.10,0008704,D82.2,200900,C1860168,C565984,,2988
932,Achondrogenesis,Disease,Disorder,LD24.50,0019648,Q77.0,600972,C0001079,C579878,10066122,2882
1795,OBSOLETE: Peripheral dysostosis,Malformation syndrome,Disorder,,,,,,,,
37,Acrodermatitis enteropathica,Disease,Disorder,5C64.20,0008713,E83.2,201100,C0221036,C538178,10000596,5723
950,Acrodysostosis,Malformation syndrome,Disorder,LD2F.16,0019797,Q75.4,614613,C0220659,C538179,10079856,5724
949,Acrocraniofacial dysostosis,Malformation syndrome,Disorder,,0008712,Q87.0,201050,C1860145,C536892,,3075
945,Acalvaria,Malformation syndrome,Disorder,LA00.0Y,0019795,Q00.0,,C2930936,C535570,,361
946,OBSOLETE: Acrocephalosyndactyly,Clinical group,Group of disorders,,,,,,,,
957,Acropectorovertebral dysplasia,Malformation syndrome,Disorder,LD26.2,0007058,Q74.8,102510,C1863307,C566319,,512
958,Acro-renal-mandibular syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008707,Q87.8,200980,C1860166,C535665,,480
955,Hajdu-Cheney syndrome,Malformation syndrome,Disorder,FB86.2,0007057,M89.5,102500,C0917715,D031845,,508
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
1702,Non-distal duplication 13q syndrome,Malformation syndrome,Disorder,,0015724,Q92.3,,C4707260,,,
1703,Mosaic trisomy 14 syndrome,Malformation syndrome,Disorder,LD40.Y,0015725,Q92.1,,C2930917,C535489,,1327
1705,Distal duplication 14q syndrome,Malformation syndrome,Disorder,,0015726,Q92.3,,C2931702,C538034,,
1713,17p11.2 microduplication syndrome,Malformation syndrome,Disorder,LD41.G1,0012574,Q92.3,610883,C2931246,C538355,,10145
1738,Trisomy 4p syndrome,Malformation syndrome,Disorder,LD41.31,0015767,Q92.2,,C0265405,C537643,10080079,6091
1739,OBSOLETE: Duplication 4q,Malformation syndrome,Disorder,,,,,,,,
1742,Trisomy 5p syndrome,Malformation syndrome,Disorder,LD41.41,0015768,Q92.2,,C0812464,,,6093
1745,Distal duplication 6p syndrome,Malformation syndrome,Disorder,LD41.51,0015769,Q92.3,,C4302551,,,
1752,Trisomy 8q syndrome,Malformation syndrome,Disorder,LD41.70,0015772,Q92.2,,C0795829,C538020,,5362
1762,Proximal Xq28 duplication syndrome,Malformation syndrome,Disorder,LD51,0010283,Q99.8,300260,C1846058,C537723,,9781
1878,TRIM32-related limb-girdle muscular dystrophy R8,Disease,Disorder,8C70.41,0009683,G71.0,254110,C0270968,C535897,,3844
1877,Muscular dystrophy-white matter spongiosis syndrome,Disease,Disorder,,,,,,,,
1876,Oculogastrointestinal muscular dystrophy,Disease,Disorder,DA90.2,0010181,G71.0,277320,C1848586,C536350,,5496
1948,Epilepsy-microcephaly-skeletal dysplasia syndrome,Malformation syndrome,Disorder,,0011048,Q87.8,601352,C2931579,C537662,,836
1946,Amelocerebrohypohidrotic syndrome,Malformation syndrome,Disorder,LD27.0Y,0009185,G40.8,226750,C0406740,C537213,,3128
1981,Fanconi syndrome-ichthyosis-dysmorphism syndrome,Disease,Disorder,,,,,,,,
1951,Epilepsy-telangiectasia syndrome,Disease,Disorder,,0009188,G40.8,226850,C4518554,C535497,,2168
381,Griscelli syndrome,Disease,Disorder,,0018306,E70.3,609227,C0398794,,10081517,10913
2604,Familial visceral myopathy,Disease,Disorder,DA90.2,0016829,K56.0,155310,C0266833,C562574,,3443
156,Carnitine palmitoyl transferase 1A deficiency,Disease,Disorder,5C52.00,0009705,E71.3,255120,C1829703,C535588,,1120
2597,Mitochondrial myopathy-lactic acidosis-deafness syndrome,Disease,Disorder,,0016825,G71.3,251950,C4518539,C537476,,3682
2598,Mitochondrial myopathy and sideroblastic anemia,Disease,Disorder,3A72.0Y,0000863,G71.3,613561,C1838103,C536101,,3885
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
1077,Dental ankylosis,Malformation syndrome,Disorder,DA07.61,0008007,K03.5,,C0155930,D020254,10044019,701
1074,Ankyloblepharon filiforme adnatum-imperforate anus syndrome,Clinical subtype,Subtype of disorder,LD27.0Y,0015201,Q87.8,,C4751231,,,697
1072,Ankyloblepharon filiforme adnatum-cleft palate syndrome,Clinical subtype,Subtype of disorder,LD2F.1Y,0007123,Q87.0,106250,C1862866,,,696
1071,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,Malformation syndrome,Disorder,LD27.0Y,0007124,Q82.4,106260,C0406709,C535847,,6571
1069,Aniridia-absent patella syndrome,Malformation syndrome,Disorder,,0007120,Q87.8,106220,C1862868,C566281,,685
1068,Aniridia-intellectual disability syndrome,Malformation syndrome,Disorder,,0015199,Q13.1,,C2931243,C536568,,5530
1067,Aniridia-ptosis-intellectual disability-familial obesity syndrome,Malformation syndrome,Disorder,,0015198,Q13.1,,C4303736,,,689
1064,Aniridia-renal agenesis-psychomotor retardation syndrome,Malformation syndrome,Disorder,,0008796,Q87.8,206750,C4518585,C536371,,690
1062,Hereditary neurocutaneous malformation,Disease,Disorder,LD2D.Y,0007116,D18.0,106070,C1275084,C536364,,676
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
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
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
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
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
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
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,,
1125,"Ocular motor apraxia, Cogan type",Disease,Disorder,9C82.4,0009764,H51.8,257550,C0543874,C537423,,16
1121,Radial deficiency-tibial hypoplasia syndrome,Malformation syndrome,Disorder,,0015232,Q73.8,,C5190823,,,
1120,Lung agenesis-heart defect-thumb anomalies syndrome,Malformation syndrome,Disorder,,0011116,Q87.8,601612,C4302918,,,3378
1122,Ulnar hypoplasia-split foot syndrome,Malformation syndrome,Disorder,,0010750,Q73.8,314360,C4518553,C536936,,5400
1116,Aplasia cutis congenita-intestinal lymphangiectasia syndrome,Disease,Disorder,LD27.Y,0008808,Q84.8,207731,C4304031,C537788,,753
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
1117,Aplasia cutis-myopia syndrome,Disease,Disorder,LD27.Y,0010988,Q84.8,601075,C4304032,,,756
1110,Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,,0007143,Q87.8,107500,C4706520,C537785,,739
1113,Aphalangy-syndactyly-microcephaly syndrome,Malformation syndrome,Disorder,,0010882,Q87.2,600384,C4304033,,,748
1112,Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,Malformation syndrome,Disorder,,0008806,Q87.8,207620,C1859754,C535881,,3051
1106,Microphthalmia with limb anomalies,Malformation syndrome,Disorder,LD21.0,0008800,Q87.2,206920,C0599973,C537769,,722
83,Antley-Bixler syndrome,Malformation syndrome,Disorder,LD24.GY,0008803,Q87.8,207410,C5234850,D054882,10083864,5826
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
1094,Anonychia-microcephaly syndrome,Malformation syndrome,Disorder,,0011795,Q87.8,607214,C2931373,C536948,,
1092,Renal-genital-middle ear anomalies,Malformation syndrome,Disorder,,,,267400,C1849432,,,
991,PAGOD syndrome,Malformation syndrome,Disorder,,0008741,Q87.8,202660,C1859967,,,3086
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
989,Hypoglossia-hypodactyly syndrome,Malformation syndrome,Disorder,LD25.0Y,0007073,Q87.2,103300,C0595985,C535629,,68
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
51,Aicardi-Goutières syndrome,Disease,Disorder,5C55.2,0018866,G31.8,619487,C0393591,C535607,10083189,575
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
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
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
988,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,Malformation syndrome,Disorder,,8572,Q87.2,190605,C4707180,C535564,,8309
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,,,
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
971,Acrorenal syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007059,Q87.2,201310,C3495490,C563159,,514
40,"Acromesomelic dysplasia, Maroteaux type",Malformation syndrome,Disorder,LD24.9,0011275,Q77.8,602875,C1864356,C535661,,507
969,Acromicric dysplasia,Malformation syndrome,Disorder,LD24.8Y,0007055,Q77.8,102370,C0265287,C535662,10083854,7
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
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
973,"Isolated absence/hypoplasia of fingers excluding thumb, unilateral",Morphological anomaly,Disorder,LB99.7,7062,Q71.3,102650,C5924999,C562417,,377
964,Acromegaly-cutis verticis gyrata-corneal leukoma syndrome,Malformation syndrome,Disorder,,,,102100,,,,
959,Acro-renal-ocular syndrome,Malformation syndrome,Disorder,,,Q87.8,607323,C5848304,,,
968,"Acromesomelic dysplasia, Hunter-Thompson type",Malformation syndrome,Disorder,LD24.9,0008717,Q78.8,201250,C2930970,,,506
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
139414,Congenital panfollicular nevus,Disease,Disorder,,0015341,I78.1,,C4476799,,,19912
1028,Amelo-onycho-hypohidrotic syndrome,Malformation syndrome,Disorder,LD27.0Y,0007095,Q82.4,104570,C1863006,C538245,,647
139417,Acute transverse myelitis,Disease,Disorder,8A41.0,0015342,G37.3,,C0270627,,,19913
1031,Enamel-renal syndrome,Malformation syndrome,Disorder,LA30.6,0008771,K00.5,204690,C2931783,C538241,,646
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,,,
139426,Perioral myoclonia with absences,Disease,Disorder,8A61.2Y,0015345,G40.4,,C4707846,,,
139431,Epilepsy with eyelid myoclonia,Disease,Disorder,8A61.2Y,0015346,G40.3,,C4274731,,10084303,19916
1035,Beta-mercaptolactate cysteine disulfiduria,Biological anomaly,Disorder,,0009585,E72.1,249650,C0796055,,,654
139436,Multicentric reticulohistiocytosis,Disease,Disorder,EE8Y,0015347,D76.3,,C0311284,,10070595,7103
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
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
1023,"Congenital generalized hypertrichosis, Ambras type",Clinical subtype,Subtype of disorder,LD27.0Y,0007787,Q84.2,145701,C1840362,C536605,,8206
139390,Non-syndromic craniosynostosis,Clinical group,Group of disorders,,0015337,,,C5848302,,,19910
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
139399,Adrenomyeloneuropathy,Clinical subtype,Subtype of disorder,5C57.1,0015339,E71.3,300100,C1527231,,,10614
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
139406,Encephalopathy due to prosaposin deficiency,Disease,Disorder,5C56.0Y,0012719,E75.2,611721,C4303785,,,
1008,Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,Disease,Disorder,LD90.Y,0007085,Q87.8,104130,C1863090,C537057,,607
701,Alopecia universalis,Disease,Disorder,ED70.2Y,,L63.1,610753,C0263505,C537055,10001767,614
1010,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Disease,Disorder,LD27.0Y,0007083,Q82.8,104100,C4304669,,,604
1011,Alopecia-hypogonadism-extrapyramidal syndrome,Disease,Disorder,,,,,C2931406,C537053,,
1014,Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,Disease,Disorder,,0011019,Q87.8,601217,C4303740,,,
1001,2q37 microdeletion syndrome,Malformation syndrome,Disorder,LD44.20,0010886,Q93.5,600430,C2931817,C538317,,10202
665,Albright hereditary osteodystrophy,Disease,Disorder,,,,,C2931404,,,
59,Allan-Herndon-Dudley syndrome,Disease,Disorder,5A00.0Y,0010354,G31.8,300523,C0795889,C537047,10078821,5617
1003,Scalp defects-postaxial polydactyly syndrome,Malformation syndrome,Disorder,,0008403,Q87.2,181250,C4511971,C536622,,241
1005,Alopecia-contractures-dwarfism-intellectual disability syndrome,Malformation syndrome,Disorder,LD27.0Y,0008754,Q87.8,203550,C4303742,C537051,,605
1253,Ascher syndrome,Malformation syndrome,Disorder,LD27.Y,0007198,Q87.0,109900,C0339085,C562742,,201
1251,Blepharofacioskeletal syndrome,Malformation syndrome,Disorder,,,,,,,,
1252,Blepharonasofacial malformation syndrome,Malformation syndrome,Disorder,,0007200,Q87.0,110050,C0796197,C536303,,4238
1248,Maxillonasal dysplasia,Malformation syndrome,Disorder,LD2H.Y,0007953,Q75.8,155050,C0220692,C536036,10075843,6992
1250,OBSOLETE: Blaichman syndrome,Malformation syndrome,Disorder,,,,,,,,
127,Borjeson-Forssman-Lehmann syndrome,Malformation syndrome,Disorder,LD29,0010537,Q87.8,301900,C0265339,C536575,,936
1264,Tricho-retino-dento-digital syndrome,Malformation syndrome,Disorder,LD27.0Y,0008622,Q82.4,191482,C1860605,C536576,,938
1262,Böök syndrome,Malformation syndrome,Disorder,LD27.0Y,0007207,Q82.8,112300,C0457014,C562993,,932
1263,Boomerang dysplasia,Disease,Disorder,LD24.E,0007208,Q87.1,112310,C0432201,C536573,,933
1259,Blepharoptosis-myopia-ectopia lentis syndrome,Disease,Disorder,LA14.0Y,0007202,Q15.8,110150,C4303549,C536236,,912
1261,Bonnemann-Meinecke-Reich syndrome,Malformation syndrome,Disorder,,0009167,Q04.8,225755,C4518560,,,2113
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
1231,Barber-Say syndrome,Malformation syndrome,Disorder,LD27.3,0008853,Q87.0,209885,C1319466,C537908,,819
1229,Pseudo-TORCH syndrome type 1,Malformation syndrome,Disorder,LD20.2,0009626,Q87.8,251290,C2931662,C537905,,12426
109,Bannayan-Riley-Ruvalcaba syndrome,Clinical subtype,Subtype of disorder,LD2D.Y,0007924,Q87.8,158350,C0265326,,10080314,5887
1228,Banki syndrome,Malformation syndrome,Disorder,,0007185,Q68.1,109300,C1862319,C566228,,813
1241,Bencze syndrome,Malformation syndrome,Disorder,,0007711,Q67.4,141350,C1841640,C564199,,2633
1240,Metaphyseal acroscyphodysplasia,Disease,Disorder,,0009592,,250215,C1855243,C537350,,3519
1239,Behr syndrome,Malformation syndrome,Disorder,,8858,H47.2,210000,C0221061,,,
1237,Beemer-Ertbruggen syndrome,Malformation syndrome,Disorder,,0008857,Q87.8,209970,C1859526,C537668,,846
114,Auriculoosteodysplasia,Malformation syndrome,Disorder,LD24.E,0007177,Q87.5,109000,C1862381,C538271,,8663
115,Congenital contractural arachnodactyly,Malformation syndrome,Disorder,LD28.00,0007363,Q68.8,121050,C0220668,C536211,,5899
1236,Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,Malformation syndrome,Disorder,,0015252,Q87.8,,C5190778,,,3482
137622,Intractable diarrhea-choanal atresia-eye anomalies syndrome,Malformation syndrome,Disorder,DA90.Y,0015295,Q87.8,,C4304307,,,19882
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
137628,Cardiac anomalies-heterotaxy syndrome,Malformation syndrome,Disorder,LA8Y,0015296,Q28.8,,C4303970,,,
1293,Brachyolmia,Clinical group,Group of disorders,,0015262,,,C0432228,C537098,10081832,10903
137625,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,Disease,Disorder,5C51.3,0012693,E74.0,611556,C4510752,,,10760
137608,Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,Clinical subtype,Subtype of disorder,LD2D.Y,0015293,Q87.3,,C4706610,,,
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
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,,,
137667,Capillary malformation-arteriovenous malformation,Clinical group,Group of disorders,LA90.3Y,0012016,Q27.3,618196,C1842180,C564254,,11904
1301,Bronchiectasis-oligospermia syndrome,Disease,Disorder,,,,,,,,
137634,Overgrowth-macrocephaly-facial dysmorphism syndrome,Malformation syndrome,Disorder,LD2C,,Q87.3,,C4302813,,,
1295,Brachytelephalangy-dysmorphism-Kallmann syndrome,Malformation syndrome,Disorder,,0007231,Q87.0,113480,C4303989,,,
137631,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",Disease,Disorder,4A00.2,0012757,D82.8,611926,C4302919,,,
1296,Lambert syndrome,Malformation syndrome,Disorder,,0009507,Q87.8,245550,C1855551,C538396,,3169
1297,Branchio-oculo-facial syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007235,Q18.8,113620,C0376524,,,3212
137639,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,Clinical subtype,Subtype of disorder,,0011897,E75.2,607694,C4706676,,,
137577,Neonatal hypoxic and ischemic brain injury,Particular clinical situation in a disease or syndrome,Disorder,KB04,,P91.6,,C5575064,,,19875
137583,Vulvar intraepithelial neoplasia,Disease,Disorder,2E67.12,0005198,D07.1,,C0346210,,,
1276,Brachydactyly-arterial hypertension syndrome,Malformation syndrome,Disorder,LD24.8Y,0007211,Q73.8,112410,C1862170,C537095,,967
1275,Brachydactyly-elbow wrist dysplasia syndrome,Malformation syndrome,Disorder,LD26.1,0008520,Q73.8,186550,C1861313,C566090,,966
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
137605,Legius syndrome,Malformation syndrome,Disorder,LD27.5,0012669,Q85.0,611431,C1969623,C548032,,10714
137593,Infectious epithelial keratitis,Disease,Disorder,1F00.10,0015289,H16.8,,C4749790,,,
137596,Neurotrophic keratopathy,Disease,Disorder,1F00.10,0015290,H16.2,,C0339296,,10069732,
1278,Brachydactyly-preaxial hallux varus syndrome,Malformation syndrome,Disorder,,0007214,Q73.8,112450,C4518542,,,972
137599,Herpes simplex virus stromal keratitis,Disease,Disorder,1F00.10,0015291,H16.3,,C1301533,,,19879
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,,
1168,Ataxia-oculomotor apraxia type 1,Disease,Disorder,5C53.22,0008842,G11.3,208920,C1859598,C538013,,9283
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
137817,Arachnoiditis,Disease,Disorder,8E40.3,0015304,G03.9,182950,C0003708,D001100,10003074,5839
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
137839,Lemierre syndrome,Disease,Disorder,1C4Y,0015306,I80.8,,C0343525,D057831,10065552,6882
137834,Frank-Ter Haar syndrome,Disease,Disorder,LD25.1,0009579,Q87.8,249420,C1855305,C537274,,5138
137831,X-linked intellectual disability-cerebellar hypoplasia syndrome,Disease,Disorder,LD90,0010337,Q04.3,300486,C4304937,,,
1170,Autosomal recessive cerebelloparenchymal disorder type 3,Disease,Disorder,,0008943,G11.0,213200,C1859298,C565865,,1199
137862,Martínez-Frías syndrome,Malformation syndrome,Disorder,,,,601346,C1832443,,,
1178,Ataxia-tapetoretinal degeneration syndrome,Disease,Disorder,,0010095,G11.1,272600,C5190865,,,
1175,X-linked progressive cerebellar ataxia,Disease,Disorder,8A03.1Y,0010547,G11.1,302800,C5231313,,,
1180,Ataxia-hypogonadism-choroidal dystrophy syndrome,Disease,Disorder,,0008980,G11.8,215470,C1859093,C565850,,944
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
1173,Cerebellar ataxia-hypogonadism syndrome,Disease,Disorder,,0008935,G11.8,605672,C1859305,C565870,,3314
137867,Madras motor neuron disease,Disease,Disorder,8B60.7,0015307,G12.2,,C0393551,,,
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,,,
1137,OBSOLETE: Pulmonary aortic stenosis obstructive uropathy,Disease,Disorder,,,,,,,,
1133,AREDYLD syndrome,Malformation syndrome,Disorder,LD27.0Y,0008812,Q87.8,207780,C0342280,C537427,,8509
137675,Histiocytoid cardiomyopathy,Disease,Disorder,BC43.00,0010771,I42.0,500000,C1708371,C535584,,9511
1131,X-linked mandibulofacial dysostosis,Malformation syndrome,Disorder,LD25.2,0010539,Q75.4,301950,C1844918,C537102,,1002
137678,Spondyloepiphyseal dysplasia with metatarsal shortening,Disease,Disorder,LD24.3,0012206,Q77.7,609162,C1836683,C535766,,10220
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,,,,,
137754,Aminoacylase 1 deficiency,Disease,Disorder,5C50.E1,0012368,E72.8,609924,C1835922,C538246,,9741
1145,Infantile-onset X-linked spinal muscular atrophy,Disease,Disorder,8B61.Y,0010532,G12.1,301830,C1844934,C535380,,8521
1144,Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,Malformation syndrome,Disorder,LD26.4Y,0007159,Q68.8,108200,C1862471,C535386,,784
137686,Asherman syndrome,Disease,Disorder,GA16.2,0015299,N85.6,,C0156372,,10053868,5853
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
1150,Arthrogryposis multiplex congenita-whistling face syndrome,Malformation syndrome,Disorder,LD26.41,0008825,Q87.8,208155,C1859711,C538401,,792
1149,Kuskokwim syndrome,Malformation syndrome,Disorder,,0015241,Q87.2,259450,C1859709,C538124,,3150
137807,Primary cutaneous amyloidosis,Clinical group,Group of disorders,5D00.0,0015301,,,C0268397,C562642,10011659,132
1159,Progressive pseudorheumatoid dysplasia,Disease,Disorder,LD24.3,0008827,Q77.7,208230,C0432215,C535387,,9184
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,,
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
1215,Autosomal dominant optic atrophy plus syndrome,Disease,Disorder,9C40.8,0014720,H47.2,616648,C3276549,,,5243
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
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
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
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
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
1184,Ataxia-photosensitivity-short stature syndrome,Malformation syndrome,Disorder,,0015248,Q87.8,,C4751230,,,2287
1182,Spastic ataxia with congenital miosis,Disease,Disorder,,0007165,G11.4,108650,C1862441,C566247,,
137888,Auriculocondylar syndrome,Malformation syndrome,Disorder,LD2F.16,0000107,Q75.8,615706,C1865295,C538270,,9798
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,Clinical subtype,Subtype of disorder,MF7Y,0009461,N46,619585,C0403812,C562903,,12385
1186,Infantile-onset spinocerebellar ataxia,Disease,Disorder,LD90.Y,0010060,G11.1,271245,C1849096,C535523,,4062
1185,Spinocerebellar ataxia-dysmorphism syndrome,Disease,Disorder,,0010062,G11.8,271270,C0796166,,,4958
137898,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,Disease,Disorder,5C53.23,0012622,E88.8,611105,C1970180,C567009,,12652
1188,Ataxia-deafness-intellectual disability syndrome,Malformation syndrome,Disorder,LD2H.Y,0008838,G11.1,208850,C4304023,,,4644
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
1190,Atelosteogenesis type I,Malformation syndrome,Disorder,LD24.E,0007167,Q78.8,108720,C0265283,C535396,,9287
137908,Hypotonia with lactic acidemia and hyperammonemia,Disease,Disorder,5C53.23,0012718,E88.8,611719,C2673642,C567126,,
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,
1193,Atkin-Flaitz syndrome,Malformation syndrome,Disorder,,0010323,Q87.8,300431,C0796206,C538195,,3537
137917,"Choanal atresia, unilateral",Clinical subtype,Subtype of disorder,LA70.2,0015312,Q30.0,,C5680630,,,19889
1200,Burn-McKeown syndrome,Malformation syndrome,Disorder,,0012064,Q87.8,616462,C1837822,C537411,,10041
137920,"Choanal atresia, bilateral",Clinical subtype,Subtype of disorder,LA70.2,0015313,Q30.0,,C4025317,,,19890
137923,OBSOLETE: Cervicofacial lymphatic malformation,Malformation syndrome,Disorder,,,,,,,,
1198,Colonic atresia,Morphological anomaly,Disorder,LB16.0,0010562,Q42.9,303650,C0266190,C562562,,1446
137926,Primary laryngeal lymphangioma,Malformation syndrome,Disorder,,0015314,D18.1,,C4706521,,,19891
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
1208,Pulmonary atresia-intact ventricular septum syndrome,Morphological anomaly,Disorder,LA8A.10,0009931,Q22.6,265150,C0344975,C562832,,4600
137932,Congenital laryngeal palsy,Malformation syndrome,Disorder,LA71.Y,0015316,J38.0,,C0396058,,10087175,12713
137935,Airway infantile hemangioma,Disease,Disorder,,0015317,D18.0,,C3274531,,,19893
1449,Ring chromosome 7 syndrome,Malformation syndrome,Disorder,LD7Y,0015441,Q93.2,,C0795818,C537813,,1345
141242,Paramedian nasal cleft,Morphological anomaly,Disorder,LA51,0015414,Q18.8,614687,C4759655,,,
1453,Cleidorhizomelic syndrome,Malformation syndrome,Disorder,LD24.A,0007341,Q77.8,119650,C1861515,C536428,,5532
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
141234,Median facial cleft,Clinical group,Group of disorders,,,,,C4022007,,,19965
1443,Ring chromosome 19 syndrome,Malformation syndrome,Disorder,LD7Y,0015435,Q93.2,,C0795869,,,1333
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,,,
141258,Tessier number 4 facial cleft,Morphological anomaly,Disorder,LA51,0010850,Q18.8,600251,C4703420,,,
1458,CODAS syndrome,Malformation syndrome,Disorder,,0010879,Q87.8,600373,C1838180,C536434,,1418
141253,Oblique facial cleft,Clinical group,Group of disorders,,,,,C5679604,,,
1454,Joubert syndrome with hepatic defect,Disease,Disorder,LD20.0Y,0100349,Q04.3,619111,C1857662,C536430,,1410
190,Coats disease,Disease,Disorder,LD21.Y,0010269,H35.0,300216,C0154832,D058456,10015901,6121
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
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
141184,Rapidly involuting congenital hemangioma,Disease,Disorder,2E81.2Y,0015404,D18.0,,C1275421,,,19958
1427,Autosomal recessive otospondylomegaepiphyseal dysplasia,Disease,Disorder,LD24.3,0008975,Q77.7,215150,C4520892,,10084407,4130
1435,Xq21 microdeletion syndrome,Malformation syndrome,Disorder,,0010558,Q93.5,303110,C1844836,C537793,,369
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
141214,Isolated congenital syngnathia,Malformation syndrome,Disorder,LA5Y,0015409,Q67.4,,C4706392,,,19962
141209,Diffuse lymphatic malformation,Malformation syndrome,Disorder,2E81.10,0015408,I89.8,,C3839921,,,19961
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
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
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
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
1487,Cooks syndrome,Malformation syndrome,Disorder,LD27.0Y,0007134,Q84.6,106995,C1862841,C537766,,4083
155838,Pinnae fistula or cyst,Morphological anomaly,Disorder,LA21.Y,0015477,Q18.1,,C5680633,,,
155867,Paramedian facial cleft,Clinical group,Group of disorders,,,,,C4703416,,,
1486,Lethal congenital contracture syndrome type 1,Malformation syndrome,Disorder,LD26.4Y,0009670,Q68.8,253310,C1854664,C537194,,3227
141276,Tessier number 7 facial cleft,Morphological anomaly,Disorder,LA51,0013300,Q18.4,613545,C4552111,,,
141265,Tessier number 6 facial cleft,Morphological anomaly,Disorder,LA51,0015417,Q18.8,,C0432120,,,
1466,COFS syndrome,Clinical subtype,Subtype of disorder,LD2B,0008926,Q87.1,616570,C5399761,,,6027
141269,Lateral facial cleft,Clinical group,Group of disorders,,,,,,,,
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
141288,Midline cervical cleft,Morphological anomaly,Disorder,LA51,0015419,Q18.8,,C4479645,C000719407,,
141291,Cleft lip and alveolus,Morphological anomaly,Disorder,LA41,0015420,Q36.9,608874,C1298692,,,
141091,Polyrrhinia,Malformation syndrome,Disorder,LA70,0015388,Q30.8,,C4274730,,,19945
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
1410,Uncombable hair syndrome,Disease,Disorder,EC21.0,0008621,Q84.1,617252,C0432347,C536939,,5404
141099,Proboscis lateralis,Malformation syndrome,Disorder,LA70.Y,0015390,Q30.8,,C4274985,,,19947
141096,Supernumerary nostril,Malformation syndrome,Disorder,LA70.Y,0015389,Q30.8,,C4021372,,,19946
1412,Tarsal-carpal coalition syndrome,Malformation syndrome,Disorder,LD26.3,0008521,Q74.8,186570,C1861305,C536943,,9225
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
1416,Familial calcium pyrophosphate deposition,Disease,Disorder,FA26.0,,M11.1,600668,C5700249,,,1292
141112,Nasal glial heterotopia,Disease,Disorder,LA70.Y,0015392,Q30.8,,C0266490,,,19949
1394,Cerebrofaciothoracic dysplasia,Malformation syndrome,Disorder,LD24.H,,Q87.5,213980,C1859252,C565862,,1210
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
141067,Cervicofacial fibrochondroma,Morphological anomaly,Disorder,LA6Y,0015383,Q18.8,,C5231314,,,19941
1398,Isolated cerebellar agenesis,Morphological anomaly,Disorder,,,Q04.3,,C0344488,,10008033,
1399,Richards-Rundle syndrome,Malformation syndrome,Disorder,LD2H.Y,0009493,G60.2,245100,C0796136,C535674,,8423
141077,Epignathus,Clinical subtype,Subtype of disorder,LA70.Y,0015386,D37.0,,C0266725,,,
1401,CHAND syndrome,Malformation syndrome,Disorder,LD27.0Y,0008959,Q82.4,214350,C0406733,C538074,,
141074,External auditory canal aplasia/hypoplasia,Morphological anomaly,Disorder,LA22.2,0015385,Q16.1,607842,C0266597,,,
141152,Isolated congenital hypoglossia/aglossia,Morphological anomaly,Disorder,LA31.1,0013003,Q38.3,612776,C5680636,,,
174,"Metaphyseal chondrodysplasia, Schmid type",Disease,Disorder,LD24.7,0007983,Q78.5,156500,C0265289,C537352,,7029
141163,Glossopalatine ankylosis,Malformation syndrome,Disorder,LD25.0Y,0015399,Q38.3,,C4303569,,,19954
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
141174,OBSOLETE: Mandibular arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,
141179,Non-involuting congenital hemangioma,Disease,Disorder,2E81.2Y,0015403,D18.0,,C1275417,,,10890
141118,Nasal encephalocele,Clinical subtype,Subtype of disorder,LA01,0015394,Q01.1,,C0014066,,,19951
1420,"OBSOLETE: Lethal chondrodysplasia, Moerman type",Malformation syndrome,Disorder,,,,,,,,
141121,Congenital subglottic stenosis,Malformation syndrome,Disorder,LA71.3,0015395,Q31.1,,C0396051,,10087149,19952
141124,Congenital laryngeal cyst,Morphological anomaly,Disorder,LA71.Y,0015396,Q31.8,,C1393619,,,19953
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
141132,Oculo-auriculo-vertebral spectrum,Malformation syndrome,Disorder,LD2F.16,,Q87.0,164210,C0265240,,10051934,12074
141136,Otomandibular syndrome,Malformation syndrome,Disorder,,,,,,,,
141145,Hemifacial hyperplasia,Malformation syndrome,Disorder,LA52,0007590,Q67.4,133900,C1399354,,,
141148,Hemifacial myohyperplasia,Malformation syndrome,Disorder,LA52,0011723,Q67.4,606773,C1847521,C535862,,10084
156728,"Spondyloepimetaphyseal dysplasia, matrilin-3 type",Disease,Disorder,LD24.3,0012108,Q77.7,608728,C1837481,C563869,,10611
1375,Cataract-hypertrichosis-intellectual disability syndrome,Malformation syndrome,Disorder,LD27.3,0008894,Q87.8,211770,C0796282,C537959,,
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
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
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
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
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
1393,Cerebrocostomandibular syndrome,Malformation syndrome,Disorder,LD24.H,0007301,Q87.8,117650,C0265342,C562538,10088264,6026
157823,Klüver-Bucy syndrome,Clinical syndrome,Disorder,,0005817,G04.8,,C0270707,D020232,10066431,6840
157826,Congenital epulis,Disease,Disorder,KC23,0015528,K06.8,,C0376319,,,
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
157820,Cold-induced sweating syndrome,Disease,Disorder,8C21.Y,0015526,G90.8,272430,,,,
1389,Cortical blindness-intellectual disability-polydactyly syndrome,Malformation syndrome,Disorder,,0009024,Q87.8,218010,C4517339,,,1548
157798,Serrated polyposis syndrome,Disease,Disorder,2E92.40,0015524,D12.6,617108,C4296896,,10085922,
1388,Catel-Manzke syndrome,Malformation syndrome,Disorder,LD2F.1Y,0014507,Q87.8,616145,C1844887,C535347,10083949,28
157801,Mesoaxial synostotic syndactyly with phalangeal reduction,Morphological anomaly,Disorder,LB79.Y,0012271,Q70.2,609432,C1836206,,,10590
1387,Cataract-intellectual disability-hypogonadism syndrome,Malformation syndrome,Disorder,5A61.0,,Q87.8,619420,C0796037,C536028,,3406
157791,Epithelioid hemangioendothelioma,Disease,Disorder,2B5Y,0015523,D48.1,,C0206732,D018323,,
157794,Hereditary mixed polyposis syndrome,Disease,Disorder,2E92.40,0011023,D12.6,610069,C5192681,,,
157769,Situs ambiguus,Morphological anomaly,Disorder,LA84,,Q89.3,,C0266642,,10059119,
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,,,
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,,,
1380,Cataract-nephropathy-encephalopathy syndrome,Malformation syndrome,Disorder,,0009045,Q87.8,218900,C0795914,C536216,,1614
157713,Congenital or early infantile CACH syndrome,Clinical subtype,Subtype of disorder,8A44.3,0015519,E75.2,603896,C5680650,,,
156731,"Dyssegmental dysplasia, Rolland-Desbuquois type",Disease,Disorder,LD24.3,0009139,Q77.7,224400,C0432209,C537999,,9810
1377,Cataract-microcornea syndrome,Malformation syndrome,Disorder,,0015300,Q13.8,604219,C1861829,C538287,,1155
157215,Hereditary hypophosphatemic rickets with hypercalciuria,Disease,Disorder,5C63.22,0009431,E83.3,241530,C1853271,C562793,,
1325,Camptodactyly-taurinuria syndrome,Malformation syndrome,Disorder,,0015272,Q68.1,,C4518792,C537972,,1069
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
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
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
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
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
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
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
1319,Camptobrachydactyly,Malformation syndrome,Disorder,,0007249,Q74.8,114150,C1861963,C537967,,1062
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
1307,Distal limb deficiencies-micrognathia syndrome,Malformation syndrome,Disorder,LD41.90,0009525,Q92.3,246560,C4302673,,,3252
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
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
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
1352,Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010825,Q87.8,600123,C4706259,,,
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
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
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
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
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
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,,
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
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,,,
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,,,
1756,Caudal duplication,Malformation syndrome,Disorder,LD2F.1Y,0011928,Q87.8,607864,C0266688,,,1164
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
1777,Temtamy syndrome,Malformation syndrome,Disorder,,0009033,Q87.8,218340,C1857512,C536959,,5688
1780,Thakker-Donnai syndrome,Malformation syndrome,Disorder,,0009202,Q87.8,227255,C2931219,C536503,,5158
1772,"45,X/46,XY mixed gonadal dysgenesis",Malformation syndrome,Disorder,LD2A.Y,0015779,Q98.7,,C0018055,D006060,,
1784,Acrofrontofacionasal dysostosis,Malformation syndrome,Disorder,LD25.3,0008715,Q75.1,201180,C1860118,C538186,,484
1782,Dysosteosclerosis,Malformation syndrome,Disorder,LD24.1Y,0009138,Q78.8,224300,C0432262,C562973,,2012
1790,Hypomandibular faciocranial dysostosis,Malformation syndrome,Disorder,,0009425,Q75.4,241310,C1855848,C537154,,2907
1792,Humerospinal dysostosis,Disease,Disorder,,,,,,,,
1786,"Acrofacial dysostosis, Catania type",Malformation syndrome,Disorder,LD25.2,0007045,Q75.4,101805,C2931762,C538182,,494
1788,"Acrofacial dysostosis, Rodríguez type",Malformation syndrome,Disorder,LD25.2,0008714,Q75.4,201170,C1860119,C538183,,496
859,Transcobalamin deficiency,Disease,Disorder,3A01.0,0010149,D51.2,275350,C0342701,,10084086,
139441,Hypomyelination with atrophy of basal ganglia and cerebellum,Disease,Disorder,8A44.3,,E75.2,612438,,,,10917
3196,Steroid dehydrogenase deficiency-dental anomalies syndrome,Disease,Disorder,,0017904,K76.8,,C2931508,C537490,,5015
139444,Leukoencephalopathy with bilateral anterior temporal lobe cysts,Disease,Disorder,8A44.3,0015348,E75.2,,C4304744,,,
139447,Progressive cavitating leukoencephalopathy,Disease,Disorder,8A44.3,0015349,E75.2,,C4304840,,,19918
1573,Hypotrichosis with juvenile macular degeneration,Malformation syndrome,Disorder,LD27.0Y,0011107,Q84.0,601553,C1832162,C537698,,3066
726,Alpers-Huttenlocher syndrome,Disease,Disorder,5C53.20,0008758,G31.8,203700,C0205710,,10062943,5783
139450,Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,Malformation syndrome,Disorder,,0012739,Q13.8,611863,C4518464,,,10300
1575,OBSOLETE: Infantile striatothalamic degeneration,Disease,Disorder,,,,,,,,
139455,Autosomal recessive bestrophinopathy,Disease,Disorder,9B71.Y,0012733,H35.5,611809,C3888198,,,10301
1574,Retinal degeneration-nanophthalmos-glaucoma syndrome,Malformation syndrome,Disorder,9E1Y,0009978,H35.5,267760,C2931831,C538364,,395
139466,SERKAL syndrome,Malformation syndrome,Disorder,,0012734,Q87.8,611812,C2678492,C567517,,10302
1577,OBSOLETE: Infantile thalamic degeneration,Disease,Disorder,,,,,,,,
1596,Distal deletion 15q syndrome,Malformation syndrome,Disorder,LD44.F,0012964,Q93.5,612626,C4707662,,,
139471,Microphthalmia with brain and digit anomalies,Malformation syndrome,Disorder,,0011936,Q11.2,607932,C1864689,C566440,,3645
139474,17q11.2 microduplication syndrome,Malformation syndrome,Disorder,LD41.G0,0015350,Q92.3,618874,C3495679,,,
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
1606,1p36 deletion syndrome,Malformation syndrome,Disorder,LD44.11,0011929,Q93.5,607872,C1842870,C535362,10082398,6082
139480,Autosomal recessive spastic paraplegia type 39,Disease,Disorder,8B44.01,0012787,G11.4,612020,C2677586,C567433,,4924
1647,Oculocerebrocutaneous syndrome,Malformation syndrome,Disorder,LD20.Y,0008108,Q87.8,164180,C0796092,C538088,10088432,106
139485,Autosomal recessive ataxia due to ubiquinone deficiency,Disease,Disorder,LD90.Y,0012784,G11.1,612016,C2677589,C567436,,10294
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,,
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
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,,
139512,Neuropathy with hearing impairment,Disease,Disorder,LD2H.1,0015351,G60.8,,C4509933,,,19919
1657,"Dermatoosteolysis, Kirghizian type",Malformation syndrome,Disorder,LD27.0Y,0009095,Q82.8,221810,C1857301,C535373,,1814
139525,Distal hereditary motor neuropathy type 2,Disease,Disorder,8B61.4,0015352,G12.2,615575,,,,
1658,Absence of fingerprints-congenital milia syndrome,Disease,Disorder,LD27.0Y,0007507,Q82.8,129200,C4304581,,,2336
139518,Distal hereditary motor neuropathy type 1,Disease,Disorder,8B61.4,0008451,G12.2,182960,C1866784,C566675,,
1659,Dermatoleukodystrophy,Disease,Disorder,,0009093,E75.2,221790,C1857314,C538220,,1813
139547,Distal spinal muscular atrophy type 3,Disease,Disorder,8B61.4,0011771,G12.2,607088,C1846823,C564626,,
139536,Distal hereditary motor neuropathy type 5,Disease,Disorder,8B61.4,0100350,G12.2,619112,C1833308,C563443,,
1660,Dermoodontodysplasia,Malformation syndrome,Disorder,LD27.0Y,0007449,Q82.4,125640,C1852144,C565103,,1816
139557,X-linked distal spinal muscular atrophy type 3,Disease,Disorder,,0010338,G12.2,300489,C1845359,C564506,,
1661,X-linked corneal dermoid,Disease,Disorder,2F36.Y,0010579,Q13.4,304730,C1844671,C535376,,2580
1662,Restrictive dermopathy,Disease,Disorder,EE6Y,0031213,Q82.8,619793,C0406585,C536920,,1516
139552,"Distal hereditary motor neuropathy, Jerash type",Disease,Disorder,8B61.4,0011585,G12.2,605726,C1854023,C535715,,10133
139573,Hereditary sensory and autonomic neuropathy with deafness and global delay,Disease,Disorder,8C21.Y,0015354,G60.8,,C4303566,,,19920
1665,Sporadic fetal brain disruption sequence,Malformation syndrome,Disorder,,0015660,Q02,,C4706553,,,
139564,Hereditary sensory and autonomic neuropathy type 1B,Disease,Disorder,8C21.0,0011961,G60.8,608088,C1842586,C564296,,
139583,X-linked hereditary sensory and autonomic neuropathy with deafness,Disease,Disorder,8C21.Y,0010378,G60.8,300614,C4304400,,,
1667,Wolcott-Rallison syndrome,Disease,Disorder,5A13.6,0009192,Q87.1,226980,C0432217,C536739,10090582,5589
139578,Mutilating hereditary sensory neuropathy with spastic paraplegia,Disease,Disorder,,9748,G60.8,256840,C5679610,,,
139589,Distal hereditary motor neuropathy type 7,Disease,Disorder,8B61.4,0015355,G12.2,607641,C4749653,,,
1671,Split cord malformation type I,Morphological anomaly,Disorder,LA07.1,0009106,Q06.2,222500,C5566552,,10012750,1851
1674,Digitorenocerebral syndrome,Malformation syndrome,Disorder,,,,,,,,
140917,Stapes ankylosis with broad thumbs and toes,Malformation syndrome,Disorder,LD2F.1Y,0008484,Q87.8,184460,C1866656,,,
1548,Cryptorchidism-arachnodactyly-intellectual disability syndrome,Malformation syndrome,Disorder,,0015473,Q87.8,,C4707233,,,860
1547,Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,Malformation syndrome,Disorder,,0007409,Q87.8,123560,C1852454,C536219,,8174
140922,Titin-related limb-girdle muscular dystrophy R10,Disease,Disorder,,0012127,G71.0,608807,C1837342,C563854,,
1545,Crisponi syndrome,Malformation syndrome,Disorder,LD26.41,0010091,G90.8,272430,C1832409,C536214,,
140905,Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,Disease,Disorder,5C80.2,0013533,E78.4,614025,C3151466,,,12864
1540,Jackson-Weiss syndrome,Malformation syndrome,Disorder,LD24.GY,0007400,Q87.8,123150,C0795998,C537559,,6796
1535,Craniosynostosis-dysmorphism-brachydactyly syndrome,Malformation syndrome,Disorder,,,,,,,,
140908,Brachydactyly type B2,Clinical subtype,Subtype of disorder,LD26.1,0012658,Q73.8,611377,C1969652,,,
1533,OBSOLETE: Craniosynostosis-fibular aplasia syndrome,Malformation syndrome,Disorder,,,,,,,,
140874,Joubert syndrome and related disorders,Category,Group of disorders,,0015369,,,C5679612,,,19931
140896,Severe acute respiratory syndrome,Disease,Disorder,1D65,0005091,U04,,C1175175,D045169,10061982,9237
1532,Gómez-López-Hernández syndrome,Malformation syndrome,Disorder,,0011157,Q07.8,601853,C0795959,C537285,,229
140952,Syndactyly-telecanthus-anogenital and renal malformations syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010408,Q87.8,300707,C2678045,C567475,,10295
140957,Autosomal dominant macrothrombocytopenia,Disease,Disorder,3B62.01,0015372,D69.1,615193,C4304021,,,
140944,CLOVES syndrome,Malformation syndrome,Disorder,LD2C,0013038,Q87.3,612918,C2752042,C567863,,10939
140949,Low-flow priapism,Particular clinical situation in a disease or syndrome,Disorder,GB06.1,4745,N48.3,,C2711256,,,19933
1555,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,Malformation syndrome,Disorder,LD27.0Y,0007412,Q87.8,123790,C1852406,C565129,,332
140936,Lelis syndrome,Malformation syndrome,Disorder,LD27.0Y,0012008,Q82.4,608290,C1842307,C564261,,10367
140941,Short stature due to primary acid-labile subunit deficiency,Disease,Disorder,5A61.0,0014420,E34.3,615961,C4303612,,,
1553,Curry-Jones syndrome,Malformation syndrome,Disorder,,0011134,Q87.0,601707,C0795915,,,5584
140927,Self-limited neonatal-infantile epilepsy,Disease,Disorder,,11904,G40.4,607745,C5671283,,,1518
140933,Linear atrophoderma of Moulin,Disease,Disorder,EB61.Y,0015371,L90.8,,C1274753,,,19932
140989,Primary angiitis of the central nervous system,Disease,Disorder,4A44.7,0015374,I67.7,,C2930862,C535276,,8703
1566,Dandy-Walker malformation-postaxial polydactyly syndrome,Malformation syndrome,Disorder,,0009075,Q87.8,220220,C1857351,C535771,,1669
140976,RHYNS syndrome,Disease,Disorder,LD2F.1Y,0011202,Q87.8,602152,C1865794,C537612,,9681
1563,Dahlberg-Borer-Newcomer syndrome,Malformation syndrome,Disorder,LD27.0Y,0009533,Q87.8,247410,C1855477,C535769,,237
140969,Saldino-Mainzer syndrome,Disease,Disorder,LD24.8Y,,Q87.5,615630,C1849437,C535463,10088468,8600
140966,"Palmoplantar keratoderma, Nagashima type",Disease,Disorder,EC20.30,0014272,Q82.8,615598,C3810072,,,
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,,,
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
742,Prolidase deficiency,Disease,Disorder,5C50.F0,0008221,E72.8,170100,C0268532,D056732,,7473
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,,,
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
141007,Orofaciodigital syndrome type 9,Malformation syndrome,Disorder,LD25.00,0009795,Q87.0,258865,C0796102,C557818,,10520
1551,Familial benign copper deficiency,Disease,Disorder,5C64.0Y,0007368,E83.0,121270,C1852576,C535468,,1522
1568,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,Malformation syndrome,Disorder,LD90,,Q04.8,304340,C0796254,C535773,,8520
141000,Orofaciodigital syndrome type 11,Malformation syndrome,Disorder,LD25.00,0013035,Q87.0,612913,C2752048,C557821,,4118
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,,,
140436,Familial intraosseous vascular malformation,Disease,Disorder,,0011744,D18.0,606893,C1847197,C564648,,
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
1493,Vici syndrome,Malformation syndrome,Disorder,4A01.1Y,0009452,Q87.8,242840,C1855772,C535566,,448
140286,Secondary hypoparathyroidism due to impaired parathormon secretion,Disease,Disorder,5A50.01,0015357,E20.8,,C4305428,,,19922
1495,Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,Malformation syndrome,Disorder,,0015458,Q87.8,,C4302530,,,12487
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
1509,Coxopodopatellar syndrome,Disease,Disorder,LD24.JY,0007841,Q74.1,147891,C1840061,C535540,10086423,3030
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
140474,Autosomal dominant hereditary sensory and autonomic neuropathy,Category,Group of disorders,,,,,C5680674,,,19928
140477,Autosomal recessive hereditary sensory and autonomic neuropathy,Category,Group of disorders,,,,,C5680675,,,19929
1506,Thin ribs-tubular bones-dysmorphism syndrome,Malformation syndrome,Disorder,LD24.D,0015462,Q87.5,,C2931543,C537595,,
140456,Autosomal dominant hereditary axonal motor and sensory neuropathy,Category,Group of disorders,,,,,C5680676,,,19924
140459,Autosomal recessive hereditary demyelinating motor and sensory neuropathy,Category,Group of disorders,,,,,C5680677,,,
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
140465,Autosomal dominant distal hereditary motor neuropathy,Category,Group of disorders,,0015362,,,C5548212,,,19926
1507,Autosomal recessive Robinow syndrome,Clinical subtype,Subtype of disorder,LD24.A,0009999,Q87.1,268310,C1849334,C535863,,
1517,Cantú syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009406,Q78.8,239850,C0795905,C535572,,8585
140503,OBSOLETE: Channelopathy,Category,Group of disorders,,,,,,,,
1519,SPECC1L-related hypertelorism syndrome,Malformation syndrome,Disorder,,0800025,Q87.0,145420,C0796179,,,957
1520,Craniofrontonasal dysplasia,Malformation syndrome,Disorder,LD25.3,0010570,Q87.1,304110,C0220767,C536456,,1578
1513,Craniodiaphyseal dysplasia,Malformation syndrome,Disorder,LD24.1Y,0009031,M85.2,218300,C0410539,C562940,,1567
1514,Craniodigital-intellectual disability syndrome,Malformation syndrome,Disorder,,0015463,Q87.0,312860,C1839311,C537528,,4776
140481,Autosomal dominant slowed nerve conduction velocity,Disease,Disorder,,0011998,G60.0,608236,C1842357,C564269,,
140500,OBSOLETE: Neurological channelopathy,Category,Group of disorders,,,,,,,,
1515,Cranioectodermal dysplasia,Malformation syndrome,Disorder,LD27.0Y,0009032,Q87.5,614378,C4551571,,,359
1516,Non-syndromic bilambdoid and sagittal craniosynostosis,Malformation syndrome,Disorder,,,Q87.0,218350,C1857511,C536455,,1575
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
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
1529,Craniofacial-deafness-hand syndrome,Malformation syndrome,Disorder,LD2H.Y,0007395,Q87.0,122880,C1852510,C536453,,1571
1521,Craniofrontonasal dysplasia-Poland anomaly syndrome,Malformation syndrome,Disorder,,0015464,Q87.8,,C4303859,,,
1522,Craniometaphyseal dysplasia,Malformation syndrome,Disorder,LD24.1Y,0015465,Q78.8,218400,C0265292,,,
1525,Cranio-osteoarthropathy,Malformation syndrome,Disorder,FB86.10,0015466,M89.4,259100,C2678439,,,1564
1969,Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,Malformation syndrome,Disorder,,0016031,Q87.0,,C2931183,C536384,,2221
1968,Flat face-microstomia-ear anomaly syndrome,Malformation syndrome,Disorder,,0008421,Q87.0,182150,C1866962,C537339,,4873
1970,Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,Malformation syndrome,Disorder,,0009074,Q87.8,220219,C4518773,,,
1973,Faciocardiorenal syndrome,Malformation syndrome,Disorder,,0009205,Q87.8,227280,C0795936,C536388,,2230
1972,Lethal faciocardiomelic dysplasia,Malformation syndrome,Disorder,,0009204,Q87.8,227270,C1856891,C565578,,2229
1974,Autosomal recessive faciodigitogenital syndrome,Malformation syndrome,Disorder,,0009209,Q87.8,227330,C1856871,,,
1962,Exostoses-anetodermia-brachydactyly type E syndrome,Malformation syndrome,Disorder,LD24.21,0007584,Q87.5,133690,C4518772,,,
1964,Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,Malformation syndrome,Disorder,,0007588,Q87.1,133750,C4749763,,,2213
1822,Dysplasia epiphysealis hemimelica,Malformation syndrome,Disorder,LD24.2Y,0007489,Q74.8,127800,C0432282,C537997,,2019
1824,Lowry-Wood syndrome,Disease,Disorder,LD24.6Y,0009191,Q87.5,226960,C0796021,C537038,10062600,264
1952,Epiphyseal stippling-osteoclastic hyperplasia syndrome,Malformation syndrome,Disorder,FB86.2,0008175,Q77.8,167220,C1833676,C538095,,4189
1954,Congenital lethal erythroderma,Disease,Disorder,,0009198,Q82.8,227090,C1856898,C535513,,
1955,Spinocerebellar ataxia type 34,Disease,Disorder,8A03.16,0007574,G11.1,133190,C1851481,C535738,,59
1956,OBSOLETE: Erythromelalgia,Disease,Disorder,,,,,,,,
1926,Diabetic embryopathy,Malformation syndrome,Disorder,KB60.1,0016018,P00.4,,C3830518,,,
2209,Maternal phenylketonuria syndrome,Malformation syndrome,Disorder,5C50.02,0016366,E70.1,261600,C0085547,D017042,,3413
1927,Emery-Nelson syndrome,Malformation syndrome,Disorder,,0007696,Q87.8,139750,C4751229,,,2593
1937,Eng-Strom syndrome,Malformation syndrome,Disorder,,0007618,Q87.1,135950,C4512073,,,
1940,Shoulder and thorax deformity-congenital heart disease syndrome,Malformation syndrome,Disorder,,,,,,,,
1920,Toluene embryopathy,Malformation syndrome,Disorder,LD2F.0Y,0016016,Q86.8,,C2931737,,,
1919,Phenobarbital embryopathy,Malformation syndrome,Disorder,LD2F.0Y,0016015,Q86.8,,C4275281,,,4315
1917,Fetal methylmercury syndrome,Malformation syndrome,Disorder,LD2F.0Y,0016013,T56.1,,C0265376,,,3575
1923,Methimazole embryofetopathy,Malformation syndrome,Disorder,LD2F.0Y,0016017,Q86.8,,C4510379,,,3573
1912,Fetal hydantoin syndrome,Malformation syndrome,Disorder,LA07.1,0016008,Q86.1,,C0265372,C537922,10016508,6435
1918,Fetal minoxidil syndrome,Malformation syndrome,Disorder,LD2F.0Y,0016014,Q86.8,,C0432373,,,2308
1911,Cocaine embryofetopathy,Malformation syndrome,Disorder,LD2F.0Y,0016007,Q86.8,,C0432371,,,1413
1910,Fetal iodine syndrome,Malformation syndrome,Disorder,5A00.03,0009224,P72.2,228355,C4273860,,,2304
1916,Diethylstilbestrol syndrome,Malformation syndrome,Disorder,LB44.6,0016012,Q86.8,,C0853695,,10012780,1859
294,Fetal cytomegalovirus syndrome,Disease,Disorder,KA62.3,0017409,P35.1,,C0349499,,,1480
1914,Vitamin K antagonist embryofetopathy,Malformation syndrome,Disorder,LD2F.02,0016010,Q86.2,,C0265374,C536683,10051445,8580
1913,Fetal trimethadione syndrome,Malformation syndrome,Disorder,LD2F.0Y,0016009,Q86.8,,C0265373,C537798,,
1896,EEC syndrome,Malformation syndrome,Disorder,LD27.0Y,0010004,Q82.4,604292,C0406704,C536189,,2076
1897,EEM syndrome,Malformation syndrome,Disorder,LD27.0Y,0009155,Q87.8,225280,C1857041,C536190,,2078
1908,Aminopterin/methotrexate embryofetopathy,Malformation syndrome,Disorder,LD2F.0Y,0016004,Q86.8,,C0432367,,10071183,2294
1909,Indomethacin embryofetopathy,Malformation syndrome,Disorder,LD2F.0Y,0016005,Q86.8,,C4275138,,,
1906,Fetal valproate spectrum disorder,Malformation syndrome,Disorder,LD2F.03,0012275,Q86.8,609442,C0236026,C536525,10016524,5447
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
1891,Intellectual disability-spasticity-ectrodactyly syndrome,Malformation syndrome,Disorder,,0009524,Q87.2,246555,C0796001,C537446,,3523
1892,Ectrodactyly-polydactyly syndrome,Malformation syndrome,Disorder,,0009156,Q73.8,225290,C4749762,,,2068
1816,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,Malformation syndrome,Disorder,LD27.0Y,0009522,Q82.4,246500,C0406729,,,2044
1807,Focal facial dermal dysplasia type III,Clinical subtype,Subtype of disorder,LD27.0Y,0009203,Q82.8,227260,C1744559,C536385,,121
1818,"Ectodermal dysplasia, trichoodontoonychial type",Malformation syndrome,Disorder,LD27.0Y,0007511,Q82.4,129510,C1851858,C565068,,2055
1883,Ectodermal dysplasia-sensorineural deafness syndrome,Malformation syndrome,Disorder,LD27.0Y,0009146,Q82.4,224800,C4518541,,,9723
1882,Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,Malformation syndrome,Disorder,LD27.02,0009150,Q82.4,225050,C1857052,C565604,,2049
1875,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,Disease,Disorder,8C70.6,0009680,G71.0,254000,C2931578,C537661,,835
1873,Jalili syndrome,Malformation syndrome,Disorder,LA30.6,0009007,H35.5,217080,C3495589,C000596385,,1463
1879,Melorheostosis with osteopoikilosis,Malformation syndrome,Disorder,LD24.1Y,0015995,M85.8,166700,C3149695,C563593,,3690
1867,"Hereditary bullous dystrophy, macular type",Disease,Disorder,,0010540,Q81.8,302000,C0795974,C563065,,1038
1872,Cone rod dystrophy,Disease,Disorder,9B70,0015993,H35.5,616502,C4085590,D000071700,10085521,10790
1871,Progressive cone dystrophy,Disease,Disorder,9B70,,H35.5,613093,C3665342,,10083940,11897
1860,Thanatophoric dysplasia type 1,Clinical subtype,Subtype of disorder,LD24.02,0008546,Q77.1,187600,C1868678,C566844,,9295
1861,Thoracic dysplasia-hydrocephalus syndrome,Malformation syndrome,Disorder,,0010115,Q87.8,273730,C1848864,C564774,,5180
1865,"Dyssegmental dysplasia, Silverman-Handmaker type",Disease,Disorder,LD24.3,0009140,Q77.7,224410,C1857100,C537998,,2026
1858,Skeletal dysplasia-epilepsy-short stature syndrome,Malformation syndrome,Disorder,LD24.8Y,0011011,Q87.5,601187,C0796046,C537625,,350
254,Spondylometaphyseal dysplasia,Clinical group,Group of disorders,LD24.4,0016763,,,C4759767,,,
1850,Renal dysplasia-megalocystis-sirenomelia syndrome,Malformation syndrome,Disorder,,,,,,,,
1852,OBSOLETE: X-linked retinal dysplasia,Disease,Disorder,,,,,,,,
1842,"Bone dysplasia, lethal Holmgren type",Malformation syndrome,Disorder,FB82.Y,0008878,Q77.8,211120,C1859407,C565896,,922
1839,Hereditary mucoepithelial dysplasia,Malformation syndrome,Disorder,DA02.0,0008017,K13.7,158310,C1274795,C536476,,5427
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
1836,"Mesomelic dysplasia, Kantaputra type",Malformation syndrome,Disorder,LD24.A,0007977,Q78.8,613681,C1835009,C535547,,3074
1834,Axial mesodermal dysplasia spectrum,Malformation syndrome,Disorder,,0015944,Q87.8,,C2931613,C537790,,213
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
1825,Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,Malformation syndrome,Disorder,,0015941,Q87.0,,C4707857,,,2178
251,Multiple epiphyseal dysplasia,Clinical group,Group of disorders,LD24.61,0016648,,,C0026760,,10028197,10756
1823,OBSOLETE: Localized epiphyseal dysplasia,Malformation syndrome,Disorder,,,,,,,,
1811,Odontomicronychial dysplasia,Malformation syndrome,Disorder,,0011034,Q84.8,601319,C1832473,C537741,,4053
1812,Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,Malformation syndrome,Disorder,LD27.0Y,0009149,Q87.8,225040,C4518334,,,
1808,"Hidrotic ectodermal dysplasia, Christianson-Fourie type",Malformation syndrome,Disorder,LD27.0Y,0011063,Q82.8,601375,C1832411,C536180,,2682
1809,"Hidrotic ectodermal dysplasia, Halal type",Malformation syndrome,Disorder,LD27.0Y,0015883,Q82.8,,C2930953,C535621,,280
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
1802,Ghosal hematodiaphyseal dysplasia,Malformation syndrome,Disorder,LD24.1Y,0009274,Q78.8,231095,C1856465,C565551,,10297
1803,Thoracomelic dysplasia,Disease,Disorder,LD24.BY,0010116,Q77.2,273740,C1848863,C564773,,
1800,OBSOLETE: Craniofaciocervical osteoglyphic dysplasia,Malformation syndrome,Disorder,,,,,,,,
1801,Kyphomelic dysplasia,Malformation syndrome,Disorder,LD24.C,0008881,Q79.8,211350,C0432239,C538128,,10149
1798,Craniofacial dysostosis-diaphyseal hyperplasia syndrome,Malformation syndrome,Disorder,LD24.1Y,0007396,Q78.8,122900,C0432263,C562974,,2016
1799,Familial developmental dysphasia,Clinical syndrome,Disorder,,0010821,F80.1,600117,C1838630,C563997,,1823
1794,Oculomaxillofacial dysostosis,Malformation syndrome,Disorder,LD25.3,0015824,Q75.1,,C1838348,C537736,,4046
2128,Isolated hemihyperplasia,Morphological anomaly,Disorder,LD2C,0009331,Q87.3,235000,C1856184,C565524,10019463,2630
2129,OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome,Malformation syndrome,Disorder,,,,,,,,
2130,Non-syndromic hemimelia,Clinical group,Group of disorders,,0016240,,,C5925000,,10019464,
2136,Hennekam syndrome,Malformation syndrome,Disorder,BD93.0,0016256,Q87.8,618154,C0340834,C537255,,3318
2138,"46,XX ovotesticular difference of sex development",Malformation syndrome,Disorder,LD2A.Y,0016281,Q56.0,618901,C5679613,D050090,,
2139,Hernández-Aguirre Negrete syndrome,Malformation syndrome,Disorder,,0016290,Q87.8,,C2931736,C538112,,
2141,Diaphragmatic defect-limb deficiency-skull defect syndrome,Malformation syndrome,Disorder,,0011007,Q87.8,601163,C4303589,,,2397
2143,Donnai-Barrow syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009104,Q87.8,222448,C1857277,C536390,,1899
2145,"Craniosynostosis, Herrmann-Opitz type",Malformation syndrome,Disorder,LD24.GY,0016291,Q75.0,,C4706536,,,
2149,Nodular neuronal heterotopia,Morphological anomaly,Disorder,LA05.5Y,0016292,Q04.8,617201,C5680679,,,
2148,Lissencephaly type 1 due to doublecortin gene mutation,Disease,Disorder,LD20.1,0010239,Q04.3,300067,C4275012,,,6914
158048,Hemophagocytic syndrome associated with an infection,Particular clinical situation in a disease or syndrome,Disorder,3B62.5,,D76.2,,C5207031,,,7857
158057,Acquired hemophagocytic lymphohistiocytosis associated with malignant disease,Particular clinical situation in a disease or syndrome,Disorder,3B62.Y,0015544,D76.1,,C5190710,,,
2108,Hallermann-Streiff syndrome,Malformation syndrome,Disorder,LD2B,0009318,Q87.0,234100,C0018522,D006210,,288
158061,Macrophage activation syndrome,Clinical syndrome,Disorder,4A01.2Y,0015545,D76.1,,C1096155,D055501,10053867,12124
2107,Hall-Riggs syndrome,Malformation syndrome,Disorder,,0009320,Q87.8,234250,C1856198,,,2586
2110,Hallux varus-preaxial polysyndactyly syndrome,Malformation syndrome,Disorder,,0009321,Q74.2,234280,C1856197,C536885,,3118
2109,Hallermann-Streiff-like syndrome,Malformation syndrome,Disorder,,0022851,Q87.0,,C2931775,C538210,,
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
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
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
2994,Short stature-craniofacial anomalies-genital hypoplasia syndrome,Malformation syndrome,Disorder,,0008335,Q87.8,177980,C1867443,C535844,,2605
2117,Hartsfield syndrome,Malformation syndrome,Disorder,,0014196,Q87.8,615465,C1845146,C564484,,2725
2120,OBSOLETE: Heckenlively syndrome,Malformation syndrome,Disorder,,,,,,,,
2119,HEC syndrome,Malformation syndrome,Disorder,BC43.3,0010901,Q87.8,600559,C1833607,C535855,,2620
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
157997,Benign cephalic histiocytosis,Disease,Disorder,EE81,0015533,D76.3,,C0347403,,,
2090,GMS syndrome,Malformation syndrome,Disorder,,0007679,Q87.8,138770,C1841854,C564214,,2523
2091,Multinodular goiter-cystic kidney-polydactyly syndrome,Malformation syndrome,Disorder,,0007680,Q87.8,138790,C1841853,C535986,,1671
157991,Generalized eruptive histiocytosis,Disease,Disorder,EE81,0015532,D76.3,,C0347404,,,
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
158008,Papular xanthoma,Disease,Disorder,EE81,0015536,D76.3,,C4707373,,,
376,Gordon syndrome,Malformation syndrome,Disorder,LD26.4Y,0007252,Q68.8,114300,C0220666,C537288,,2553
158003,Xanthoma disseminatum,Disease,Disorder,EE81,0015535,D76.3,,C0043322,,10052575,13186
2092,Focal dermal hypoplasia,Malformation syndrome,Disorder,LD27.0Y,0010592,Q82.8,305600,C0016395,D005489,,6457
158000,Juvenile xanthogranuloma,Disease,Disorder,2B31.0,0015534,D76.3,,C0043324,D014972,10089466,
2098,"Acromesomelic dysplasia, Grebe type",Malformation syndrome,Disorder,LD24.9,0008703,Q78.8,200700,C0265260,C537915,,1300
158025,Hereditary progressive mucinous histiocytosis,Disease,Disorder,EE8Y,0007725,D76.3,142630,C4749819,,,
158022,Progressive nodular histiocytosis,Disease,Disorder,EE81,0015539,D76.3,,C4707331,,,
380,Greig cephalopolysyndactyly syndrome,Malformation syndrome,Disorder,LD26.2,0008287,Q87.0,175700,C0265306,C537300,10053878,6550
2095,Gorlin-Chaudhry-Moss syndrome,Clinical subtype,Subtype of disorder,LD27.0Y,,Q87.0,612289,C5848089,,,66
158019,Indeterminate cell histiocytosis,Disease,Disorder,2B31.6,0015538,C96.4,,C2825741,,,
158014,Rosaï-Dorfman disease,Disease,Disorder,EK92,0006412,D76.3,,C5848165,D015618,10063397,7588
2097,Grant syndrome,Malformation syndrome,Disorder,LD24.KY,0007683,Q87.5,138930,C1841835,C537293,,2559
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
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,,,
2099,OBSOLETE: Grix-Blankenship-Peterson syndrome,Malformation syndrome,Disorder,,,,,,,,
158032,Hemophagocytic syndrome,Category,Group of disorders,4A01.23,0015540,,,C0024291,,10058125,
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
157846,Neuroferritinopathy,Disease,Disorder,8A01.1Y,0011638,G23.0,606159,C1853578,C548080,,10686
157832,Craniorhiny,Malformation syndrome,Disorder,LA70.Y,0007398,Q30.8,123050,C1852501,C565144,,
2067,GAPO syndrome,Malformation syndrome,Disorder,LD27.0Y,0009263,Q87.8,230740,C0406723,C535642,,400
157835,Paroxysmal hemicrania,Disease,Disorder,8A82,0015529,G44.0,,C1399352,D051302,10019461,10794
2065,Galloway-Mowat syndrome,Malformation syndrome,Disorder,GB41,0009627,Q04.3,618348,C0795949,C537548,10088355,65
2075,Genitopalatocardiac syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009270,Q87.8,231060,C1856466,C537683,,2460
157941,Huntington disease-like 1,Disease,Disorder,8A01.11,0011299,G10,603218,C1864112,C566398,,
2074,Gemignani syndrome,Malformation syndrome,Disorder,,0016159,G31.8,,C2931587,C537678,,2451
157850,Pantothenate kinase-associated neurodegeneration,Disease,Disorder,5C64.10,0009319,G23.0,234200,C0018523,D006211,,6564
2072,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Clinical subtype,Subtype of disorder,5C56.0Y,0009268,E75.2,231005,C2931585,,,
157855,HARP syndrome,Clinical subtype,Subtype of disorder,,,,,C1846582,,,
157954,ANE syndrome,Disease,Disorder,,0012794,E23.0,612079,C2677535,C567425,,
157962,"Oculoauricular syndrome, Schorderet type",Malformation syndrome,Disorder,LD21.0,0012802,Q87.8,612109,C4706592,,,
157946,Huntington disease-like 3,Disease,Disorder,8A01.11,0011487,G10,604802,C1858114,C565747,,
2078,Geroderma osteodysplastica,Malformation syndrome,Disorder,LD2B,0009271,Q82.8,231070,C0432255,C537799,,413
157949,Combined immunodeficiency with granulomatosis,Disease,Disorder,,0009306,D81.1,233650,C5191061,,,13587
2077,German syndrome,Malformation syndrome,Disorder,,0009272,Q87.8,231080,C3887495,C562543,,
157973,Congenital muscular dystrophy due to LMNA mutation,Disease,Disorder,,0013178,G71.2,613205,C2750785,C567708,,
2085,Glaucoma-sleep apnea syndrome,Disease,Disorder,9C6Y,0007666,H40.8,137763,C4304308,,,2483
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
157965,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,Clinical subtype,Subtype of disorder,LD28.1Y,0012873,Q79.6,612350,C2676510,C567340,,
2083,Prominent glabella-microcephaly-hypogenitalism syndrome,Malformation syndrome,Disorder,,0009543,Q87.8,247990,C0796024,C537714,,144
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
1826,Frontometaphyseal dysplasia,Disease,Disorder,LD25.1,0015942,Q78.5,617137,C0265293,C538064,,826
2047,Flynn-Aird syndrome,Disease,Disorder,,0007624,Q87.8,136300,C0343108,C537066,,2347
2048,Foix-Chavany-Marie syndrome,Malformation syndrome,Disorder,,0023171,G12.2,,C2931412,C537069,10083275,2351
2050,Cole-Carpenter syndrome,Malformation syndrome,Disorder,LD24.KY,0016085,Q78.0,616294,C1862178,C535963,,1425
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
2064,Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,Malformation syndrome,Disorder,,0008650,Q87.5,192800,C4510303,C536344,,
250,Frontonasal dysplasia,Clinical group,Group of disorders,,0016643,,,C1876203,C538065,10089384,2392
2057,Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,Malformation syndrome,Disorder,,0008875,Q87.8,210745,C4303550,,,905
2059,Fryns syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009253,Q87.8,229850,C0220730,C538070,10075223,3699
2026,Gingival fibromatosis-hypertrichosis syndrome,Malformation syndrome,Disorder,LD27.0Y,0007610,L68.8,135400,C4274889,,,2324
2025,Gingival fibromatosis-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0009228,Q87.0,228560,C4304501,,,10528
2028,Juvenile hyaline fibromatosis,Clinical subtype,Subtype of disorder,EE6Y,0016071,M72.8,228600,C2745948,D057770,,
2027,Gingival fibromatosis-progressive deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0007612,H90.3,135550,C1851112,C535886,,3056
158796,OBSOLETE: Classic mast cell leukemia,Disease,Disorder,,,,,,,,
2021,Fibrochondrogenesis,Disease,Disorder,LD24.3,0016068,Q77.7,614524,C0265282,C562524,,2321
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
2024,Hereditary gingival fibromatosis,Malformation syndrome,Disorder,DA0B.Y,0016070,K06.1,617626,C0399440,C562884,10088210,
2022,Endocardial fibroelastosis,Disease,Disorder,BC43.3,0009169,I42.4,226000,C0014117,D004695,10014663,6336
2824,Paraplegia-intellectual disability-hyperkeratosis syndrome,Malformation syndrome,Disorder,,0010662,G82.1,309560,C2745996,C537058,,2344
2045,FLOTCH syndrome,Disease,Disorder,,0016083,L60.8,,C2931411,C537065,,2346
2044,Floating-Harbor syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007621,Q87.8,136140,C0729582,C537062,10079943,6455
2031,Hepatic fibrosis-renal cysts-intellectual disability syndrome,Malformation syndrome,Disorder,LD90.Y,0008941,Q87.8,213010,C2931226,C536515,,
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
158769,Plaque-form urticaria pigmentosa,Clinical subtype,Subtype of disorder,2A21.10,0015555,Q82.2,,C5680682,,,
2006,Median cleft lip/mandible,Morphological anomaly,Disorder,LA51,0016062,Q36.1,,C4518460,,,
158766,Typical urticaria pigmentosa,Clinical subtype,Subtype of disorder,2A21.10,0015554,Q82.2,,C5680683,,,
2007,Alar cartilages hypoplasia-coloboma-telecanthus syndrome,Malformation syndrome,Disorder,,0008744,Q75.8,203000,C4302677,,,588
2003,Cleft lip/palate-deafness-sacral lipoma syndrome,Malformation syndrome,Disorder,LD2H.Y,0016059,Q87.8,,C4274888,,,
158687,Lethal acantholytic erosive disorder,Disease,Disorder,EC30,0012323,Q81.0,609638,C1864826,C535493,,9910
158684,Epidermolysis bullosa simplex with pyloric atresia,Disease,Disorder,EC30,0012807,Q81.0,612138,C2677349,C567408,,
2004,Laryngotracheoesophageal cleft,Morphological anomaly,Disorder,LA72,0016060,Q32.1,215800,C1840311,C537875,,3188
2001,Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,Malformation syndrome,Disorder,,0011008,Q87.8,601165,C2931750,C538160,,3430
158681,Epidermolysis bullosa simplex with circinate migratory erythema,Disease,Disorder,EC30,0012258,Q81.0,609352,C1836284,C563730,,
158676,"Localized dystrophic epidermolysis bullosa, nails only",Clinical subtype,Subtype of disorder,EC32,0015553,Q81.2,607523,C4302547,,,
158673,"Localized dystrophic epidermolysis bullosa, acral form",Clinical subtype,Subtype of disorder,EC32,0015552,Q81.2,,C4518087,,,
158668,Ectodermal dysplasia-skin fragility syndrome,Disease,Disorder,EC30,,Q81.0,604536,C1858302,C536183,,9705
2016,Cleft palate-lateral synechia syndrome,Malformation syndrome,Disorder,,0007337,Q87.8,119550,C0795898,C563047,,1391
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
2013,Cleft palate-large ears-small head syndrome,Malformation syndrome,Disorder,,0008402,Q87.8,181180,C1867023,C536621,,162
2010,Cleft palate-stapes fixation-oligodontia syndrome,Malformation syndrome,Disorder,,0008993,Q87.8,216300,C4304738,,,1393
158778,Isolated bone marrow mastocytosis,Disease,Disorder,2A21.0Y,0015558,D47.0,,C4509020,,,
158775,Smoldering systemic mastocytosis,Disease,Disorder,2A21.0Y,0015557,D47.0,,C3897042,,10089905,
158772,Nodular urticaria pigmentosa,Clinical subtype,Subtype of disorder,2A21.10,0015556,Q82.2,,C5680684,,,
2008,Acrocardiofacial syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010890,Q87.8,600460,C1838121,C563936,,1167
1987,Isolated femoral agenesis/hypoplasia,Morphological anomaly,Disorder,LB9A.8,0016032,Q72.4,,C5889736,,,1503
1986,Gollop-Wolfgang complex,Malformation syndrome,Disorder,LD26.0,0009222,Q74.8,228250,C1856789,C537917,10079731,2285
1984,Fechtner syndrome,Clinical subtype,Subtype of disorder,,,,,C0403445,C537078,,
1980,Bilateral striopallidodentate calcinosis,Disease,Disorder,LD20.4,0008947,G23.8,618317,,,10078822,6406
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
1995,OBSOLETE: Cleft lip-retinopathy syndrome,Malformation syndrome,Disorder,,,,,,,,
1993,Pai syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007956,Q87.8,155145,C1835087,C536135,,3439
1988,Femoral-facial syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007604,Q87.8,134780,C0265263,C537916,10083944,61
2348,"Familial partial lipodystrophy, Dunnigan type",Disease,Disorder,5A44,0007906,E88.1,151660,C1720860,,,3126
247775,Mayer-Rokitansky-Küster-Hauser syndrome type 1,Clinical subtype,Subtype of disorder,LB44.Y,0010173,Q51.8,277000,C5566555,,,4737
247768,Müllerian aplasia and hyperandrogenism,Malformation syndrome,Disorder,,0008019,Q51.8,158330,C2675014,C567186,10088125,
2351,Kousseff syndrome,Malformation syndrome,Disorder,,0016522,Q87.8,,C2931444,C537223,,4752
2353,Schilbach-Rott syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008113,Q87.8,164220,C1834038,C563509,,2930
247790,FTH1-related iron overload,Disease,Disorder,5C64.10,0014225,E83.1,615517,C1851316,,,13472
247798,MUTYH-related polyposis,Disease,Disorder,2B90.Y,0012041,D12.6,608456,C3272841,C563924,,10805
2355,Kumar-Levick syndrome,Malformation syndrome,Disorder,,,,106990,,,,
247794,Juvenile cataract-microcornea-renal glucosuria syndrome,Disease,Disorder,,0012786,E88.8,612018,C4302529,,,
247815,Autosomal recessive ataxia due to PEX10 deficiency,Disease,Disorder,,0016614,G11.8,,C5679614,,,
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
247691,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,Disease,Disorder,9B78.0,0008641,I77.8,192315,C1860518,C566007,,1217
2340,Keratosis follicularis spinulosa decalvans,Disease,Disorder,ED56,0000136,Q82.8,604093,C0343057,C536159,,6829
247685,Odontohypophosphatasia,Clinical subtype,Subtype of disorder,,0016607,E83.3,146300,C1840322,C564146,,
247709,Multiple endocrine neoplasia type 2B,Clinical subtype,Subtype of disorder,2F7A.0,0008082,D44.8,162300,C0025269,D018814,10056420,10225
2342,Haim-Munk syndrome,Disease,Disorder,,0009491,Q82.8,245010,C1855627,C537627,,44
247698,Multiple endocrine neoplasia type 2A,Clinical subtype,Subtype of disorder,2F7A.0,0008234,D44.8,171400,C0025268,D018813,10073148,4881
247724,Idiopathic eosinophilic myositis,Disease,Disorder,,0016610,M60.8,,C4755301,,,
247718,Inflammatory myopathy with abundant macrophages,Disease,Disorder,,0016609,G72.4,,C4707791,,,
247765,X-linked cerebellar ataxia,Category,Group of disorders,,0016612,,,,,,
485,Kniest dysplasia,Disease,Disorder,LD24.3,0007987,Q77.7,156550,C0265279,C537207,10081685,6841
247762,Lipoblastoma,Disease,Disorder,2E80.1,0016611,D17.9,,C1260965,D062689,10074547,12015
2347,Lethal Kniest-like dysplasia,Malformation syndrome,Disorder,LD24.3,0009498,Q77.8,245190,C1855605,C537208,,3124
247585,Citrullinemia type II,Disease,Disorder,5C50.A3,0016603,E72.2,603471,C1863844,C538053,,10215
2333,Kenny-Caffey syndrome,Malformation syndrome,Disorder,LD24.D,0016516,Q87.1,127000,C0265291,,10073228,
247598,Neonatal intrahepatic cholestasis due to citrin deficiency,Disease,Disorder,5C50.A3,0011601,E72.2,605814,C1853942,,,10214
2332,KBG syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007846,Q87.8,148050,C0220687,C537015,10084411,82
247604,Juvenile primary lateral sclerosis,Disease,Disorder,,0011663,G12.2,606353,C1853396,C536416,,4485
247623,Perinatal lethal hypophosphatasia,Clinical subtype,Subtype of disorder,5C64.3,0016605,E83.3,241500,C2673477,C567107,,
2335,NON RARE IN EUROPE: Isolated keratoconus,Disease,Disorder,,,,,,,,
247638,Prenatal benign hypophosphatasia,Clinical subtype,Subtype of disorder,5C64.3,,E83.3,,C5679616,,,
2338,Isolated punctate palmoplantar keratoderma,Clinical group,Group of disorders,,,,,C5679617,,,
2337,"Diffuse palmoplantar keratoderma, Bothnian type",Disease,Disorder,EC20.30,0010849,Q82.8,600231,C1838359,,,1862
247651,Infantile hypophosphatasia,Clinical subtype,Subtype of disorder,5C64.3,,E83.3,241500,C0268412,C562646,,
247667,Childhood-onset hypophosphatasia,Clinical subtype,Subtype of disorder,5C64.3,,E83.3,241510,C0220743,C562440,,8735
2339,Keratosis follicularis-dwarfism-cerebral atrophy syndrome,Malformation syndrome,Disorder,,0010638,Q87.1,308830,C4510086,C536158,,3099
247676,Adult hypophosphatasia,Clinical subtype,Subtype of disorder,5C64.3,,E83.3,146300,C0268413,C562647,,
494,Keratoderma hereditarium mutilans,Disease,Disorder,,0007422,Q82.8,124500,C0265964,C536457,,3092
2322,Kabuki syndrome,Malformation syndrome,Disorder,LD2F.1Y,0016512,Q87.0,300867,C0796004,C537705,10063935,6810
247378,Autosomal recessive secondary polycythemia not associated with VHL gene,Disease,Disorder,3A80.Y,0016598,D75.1,,C5191076,,,
2321,Jung syndrome,Malformation syndrome,Disorder,,0011078,Q87.8,601427,C1275130,C537694,,3062
2324,Osteopenia-intellectual disability-sparse hair syndrome,Malformation syndrome,Disorder,LD24.KY,0009814,Q87.5,259690,C1850140,C537706,,354
247511,Autosomal dominant secondary polycythemia,Disease,Disorder,3A80.Y,0016599,D75.1,611783,C5190864,,,
2323,Sanjad-Sakati syndrome,Malformation syndrome,Disorder,LD24.D,0009426,Q87.1,241410,C1855840,C537157,,411
247522,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,Disease,Disorder,LA75.Y,0010330,Q34.8,300455,C4304829,,,
247525,Citrullinemia type I,Disease,Disorder,5C50.A3,0008988,E72.2,215700,C4721769,,10058298,6114
247546,Acute neonatal citrullinemia type I,Clinical subtype,Subtype of disorder,5C50.A3,0016600,E72.2,215700,C5679618,,,
2325,Epidermolysis bullosa simplex with anodontia/hypodontia,Malformation syndrome,Disorder,,0016514,Q81.0,,C0432313,,,
247573,Late-onset citrullinemia type I,Clinical subtype,Subtype of disorder,,0016601,E72.2,215700,C0268546,,,
2329,Karsch-Neugebauer syndrome,Malformation syndrome,Disorder,,0008466,Q87.2,183800,C1866740,C537319,,4967
247582,Citrin deficiency,Category,Group of disorders,,0016602,,,C1997910,,,
2328,Kapur-Toriello syndrome,Malformation syndrome,Disorder,,0009483,Q87.8,244300,C0796005,C537008,,3078
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
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
2405,Thickened earlobes-conductive deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0007504,H90.0,128980,C4302507,,,
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,
250165,Genetic polycythemia,Category,Group of disorders,,,,,C5680689,,,
2412,Dislocation of the hip-dysmorphism syndrome,Malformation syndrome,Disorder,,0011081,Q87.2,601450,C4706570,,,1428
2575,Cystic fibrosis-gastritis-megaloblastic anemia syndrome,Disease,Disorder,CA25.1,0009062,E84.8,219721,C2931402,C537039,,3303
248408,Familial hypodysfibrinogenemia,Clinical subtype,Subtype of disorder,3B14.0,0016638,D68.2,616004,C0472803,,,
2410,Hypergonadotropic hypogonadism-cataract syndrome,Malformation syndrome,Disorder,,0009417,E29.1,240950,C1855859,C543092,,298
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
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,,
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
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,,,
2388,Choreoacanthocytosis,Disease,Disorder,3A10.Y,0008695,E78.6,200150,C5848062,,10081505,3956
248111,Juvenile Huntington disease,Disease,Disorder,,0016621,G10,143100,C0751208,,,10510
2387,Leukonychia totalis,Disease,Disorder,EC22.0,0016557,Q84.4,151600,C4551625,C535889,,9759
247871,OBSOLETE: Vitiligo-associated autoimmune disease,Disease,Disorder,,,,,,,,
2386,Leukoencephalopathy-palmoplantar keratoderma syndrome,Disease,Disorder,,0016545,Q82.8,,C4749769,,,3232
248095,Primary hypertrophic osteoarthropathy,Clinical group,Group of disorders,,0016620,,,C0029411,D010004,,
2379,Early-onset parkinsonism-intellectual disability syndrome,Disease,Disorder,LD90.1,0010709,G20,311510,C0796195,C537179,,3203
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
248293,Rare deficiency anemia,Category,Group of disorders,,,,,C5680694,,,
2390,Lichtenstein syndrome,Disease,Disorder,,0009523,D70,246550,C1855502,C535894,,3248
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,,,
2371,Lethal Larsen-like syndrome,Malformation syndrome,Disorder,LD24.E,0009512,Q74.8,245650,C4304741,C537872,,3181
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
247820,Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome,Malformation syndrome,Disorder,,,Q82.8,613573,C4749852,,,
247827,Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome,Malformation syndrome,Disorder,,,Q82.8,613576,C5816683,,,
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
247868,NLRP12-associated hereditary periodic fever syndrome,Disease,Disorder,4A60.Y,0012724,E85.0,611762,C2673198,C567090,,
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,,,
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
2457,Mandibuloacral dysplasia,Malformation syndrome,Disorder,LD27.6Z,0016584,Q87.5,248370,C0432291,,,11893
2451,Mucocutaneous venous malformations,Malformation syndrome,Disorder,LC51,0010842,Q27.8,600195,C1838437,C563977,,
2453,Malpuech syndrome,Malformation syndrome,Disorder,,,,248340,C0796032,,,
2439,Patterson-Stevenson-Fontaine syndrome,Malformation syndrome,Disorder,,0008465,Q87.0,183700,C5574964,,,4260
244305,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,Disease,Disorder,GB90.48,0016579,N25.8,612287,C5191009,,,
244283,Biliary atresia with splenic malformation syndrome,Malformation syndrome,Disorder,LB2Y,0016577,Q44.2,,C4274029,,,
2440,Isolated split hand-split foot malformation,Malformation syndrome,Disorder,LB9B,0016576,Q74.8,606708,C0265554,,10079827,6319
244310,RFT1-CDG,Disease,Disorder,5C54.0,0012783,E77.8,612015,C2677590,C567437,,12394
244242,HELLP syndrome,Disease,Disorder,JA24.2,0008585,O14.2,,C0162739,D017359,10049058,8528
296,Ollier disease,Disease,Disorder,2E83.Z,0008145,Q78.4,166000,C0014084,D004687,10014642,7251
2437,Czeizel-Losonci syndrome,Malformation syndrome,Disorder,,0008467,Q87.8,183802,C1866739,C566662,,4969
244275,De novo thrombotic microangiopathy after kidney transplantation,Particular clinical situation in a disease or syndrome,Disorder,NE8Y,,M31.1,,C5680696,,,
2438,Hand-foot-genital syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007698,Q51.2,140000,C1841679,C535627,10072361,2594
243343,Dimethylglycine dehydrogenase deficiency,Disease,Disorder,,0011610,E72.5,605850,C1853892,C565278,,
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
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
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,,
2432,Macrosomia-microphthalmia-cleft palate syndrome,Malformation syndrome,Disorder,,0009547,Q87.0,248110,C4721892,C537830,,177
2419,Lymphedema-ptosis syndrome,Malformation syndrome,Disorder,,,,,,,,
2489,Upper limb defect-eye and ear abnormalities syndrome,Malformation syndrome,Disorder,,0010125,Q87.8,274205,C4274838,,,
247353,Generalized pustular psoriasis,Disease,Disorder,EA90.40,100491,L40.1,616106,C0343055,,10090621,12819
247262,Hyperphosphatasia-intellectual disability syndrome,Disease,Disorder,,0016596,Q87.8,616809,C1855923,C565495,,
2487,Lower limb malformation-hypospadias syndrome,Malformation syndrome,Disorder,,0016639,Q87.2,,C2930962,C535640,,
247257,Inhalational anthrax,Disease,Disorder,1B97,0016595,A22.1,,C0155866,C571912,10035667,
247245,Superficial siderosis,Disease,Disorder,,0016594,I69.0,,C2938918,,10070564,9484
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
2486,Transverse limb deficiency-hemangioma syndrome,Malformation syndrome,Disorder,,,,,,,,
247239,Non-hereditary degenerative ataxia,Category,Group of disorders,8A03.2,,,,C5680697,,,
247234,Sporadic adult-onset ataxia of unknown etiology,Disease,Disorder,,0016591,G31.8,,C4518339,,,
2483,Melkersson-Rosenthal syndrome,Malformation syndrome,Disorder,8B88.Y,0007969,G51.2,155900,C0025235,D008556,10027166,7010
247203,Collecting duct carcinoma,Disease,Disorder,,0005220,C64,,C1266044,,,9573
2484,Melnick-Needles syndrome,Malformation syndrome,Disorder,LD25.1,0010650,Q77.8,309350,C0025237,,10060908,7011
247198,Progressive cerebello-cerebral atrophy,Disease,Disorder,,0016589,G31.8,615851,C3151140,,,
2481,Neurocutaneous melanocytosis,Disease,Disorder,2F20.20,0009578,D22.7,249400,C0544862,C537387,,7186
2482,Melhem-Fahl syndrome,Malformation syndrome,Disorder,LD24.H,0016622,Q76.4,,C2931453,C537238,,3462
247165,Infantile mercury poisoning,Disease,Disorder,NE61,0016588,T56.1,,C4553710,,,
2477,Isolated megalencephaly,Malformation syndrome,Disorder,LA05.1,0016608,Q04.5,248000,C2720434,,,
2479,Megalocornea-intellectual disability syndrome,Malformation syndrome,Disorder,,0009577,Q87.8,249310,C0796086,C536143,,3448
2475,White forelock with malformations,Malformation syndrome,Disorder,LD2F.1Y,0010199,Q87.8,277740,C1848463,C536700,,10081
2476,Dysraphism-cleft lip/palate-limb reduction defects syndrome,Malformation syndrome,Disorder,,0016604,Q00.0,,C5679624,,,3438
2474,OBSOLETE: McLain-Dekaban syndrome,Malformation syndrome,Disorder,,,,,,,,
2473,McKusick-Kaufman syndrome,Malformation syndrome,Disorder,9B70,0009367,Q87.8,236700,C0948368,C538159,10052312,3427
2471,McDonough syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009570,Q87.8,248950,C0796038,C538158,,3424
2470,Matthew-Wood syndrome,Malformation syndrome,Disorder,LD21.0,0011010,Q11.2,601186,C1832661,C537768,,713
561,Marshall-Smith syndrome,Malformation syndrome,Disorder,LD2C,0011244,Q87.3,602535,C0265211,C536026,,6985
2464,"Marfanoid syndrome, De Silva type",Malformation syndrome,Disorder,,0009120,Q87.4,223330,C4517371,,,3401
559,Marinesco-Sjögren syndrome,Disease,Disorder,8C70.6,0009567,G11.1,248800,C0024814,,,8341
2463,Marfanoid habitus-autosomal recessive intellectual disability syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009566,Q87.8,248770,C4518565,,,3388
2462,Shprintzen-Goldberg syndrome,Malformation syndrome,Disorder,LD28.0Y,0008426,Q87.8,182212,C1321551,C537328,10082234,4861
2461,Marden-Walker syndrome,Malformation syndrome,Disorder,LD26.41,0009564,Q87.0,248700,C0796033,C535910,,6973
251630,Anaplastic oligodendroglioma,Disease,Disorder,XH9QF3,0016696,C71.9,137800,C0334590,,10026659,9472
2172,Microcephaly-glomerulonephritis-marfanoid habitus syndrome,Malformation syndrome,Disorder,,0009565,Q87.8,248760,C1855348,C565411,,3615
251633,OBSOLETE: Low-grade ependymoma,Disease,Disorder,,,,,,,,
251636,Ependymoma,Disease,Disorder,,0016698,D43.2,,C0014474,D004806,10014967,6353
2174,Hunter-Carpenter-McDonald syndrome,Disease,Disorder,,,,,,,,
251639,Subependymoma,Disease,Disorder,XH8FZ9,0007667,D43.2,,C0206725,D018315,,10070
251643,Myxopapillary ependymoma,Disease,Disorder,XH15U1,0016699,D43.2,,C0205769,,,10633
2176,Infantile systemic hyalinosis,Clinical subtype,Subtype of disorder,EE6Y,0016331,E78.8,228600,C5574678,,,
251646,Anaplastic ependymoma,Disease,Disorder,XH6922,0016700,C71.9,,C0280788,,10014968,10634
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
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
251663,Anaplastic oligoastrocytoma,Disease,Disorder,2A00.0Y,0016703,C71.9,,C0431108,,,10637
2186,Hydrocephalus-blue sclerae-nephropathy syndrome,Malformation syndrome,Disorder,,0016350,Q87.8,,C4750751,,,236
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,
2189,Hydrolethalus,Malformation syndrome,Disorder,LD2F.1Y,0006037,Q87.8,614120,C2931104,C536079,,6683
251674,Chordoid glioma,Disease,Disorder,,,C71.9,,C1322252,,,
251679,Astroblastoma,Disease,Disorder,2A00.4,0016707,C71.9,,C0334587,,10079366,10635
2190,OBSOLETE: Congenital hydronephrosis,Morphological anomaly,Disorder,,,,,,,,
312,Autosomal dominant epidermolytic ichthyosis,Disease,Disorder,EC20.03,20702,Q80.3,620150,C0079153,D017488,,1039
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
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
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
251582,Gliomatosis cerebri,Disease,Disorder,2A00.0Y,0016683,C71.0,,C0334576,,10066254,6514
251579,Giant cell glioblastoma,Histopathological subtype,Subtype of disorder,XH8UC5,0016682,C71.9,,C0334588,,,
2152,Mowat-Wilson syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009341,Q43.1,235730,C1856113,C536990,,9673
2153,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,Malformation syndrome,Disorder,,0009344,Q43.1,235760,C1856110,C535615,,584
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
251598,Protoplasmic astrocytoma,Histopathological subtype,Subtype of disorder,XH6UV4,0016687,C71.9,,C0334580,,,
2155,Hirschsprung disease-deafness-polydactyly syndrome,Malformation syndrome,Disorder,LD2H.Y,0009342,Q43.1,235740,C2931452,C537235,,157
251595,Diffuse astrocytoma,Disease,Disorder,2A00.0Y,0016686,D33.2,,C0280785,,,5907
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
251612,Pilocytic astrocytoma,Disease,Disorder,XH12D2,0016691,C71.9,,C0334583,,,9808
2163,Holoprosencephaly-craniosynostosis syndrome,Malformation syndrome,Disorder,LD20.3,0011059,Q04.2,601370,C1832424,C537684,,2454
251607,Pleomorphic xanthoastrocytoma,Disease,Disorder,XH99U2,0016690,C71.9,,C0334586,,,10631
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,,,
251615,Pilomyxoid astrocytoma,Histopathological subtype,Subtype of disorder,2A00.0Y,0016692,C71.9,,C1519086,,,
2166,Holoprosencephaly-postaxial polydactyly syndrome,Malformation syndrome,Disorder,,0009921,Q87.8,264480,C1849649,C535829,,344
251627,Oligodendroglioma,Disease,Disorder,XH7K31,0016695,C71.9,137800,C0028945,D009837,10030286,9953
2167,Holzgreve syndrome,Malformation syndrome,Disorder,,0009350,Q87.8,236110,C1856095,C535327,,2728
251623,Pituicytoma,Disease,Disorder,2A00.0Y,0006372,D44.3,,C2986550,,10089140,
2169,Methylcobalamin deficiency type cblE,Clinical subtype,Subtype of disorder,5C50.B,0009354,E72.1,236270,C1856057,C565510,,
251927,Extraventricular neurocytoma,Disease,Disorder,,0016727,C72.9,,C2985175,,,
251931,Cerebellar liponeurocytoma,Disease,Disorder,,0006131,D33.1,,C1370507,,,10642
2222,Hypertrichosis lanuginosa congenita,Disease,Disorder,LD27.0Y,0016381,Q84.2,307150,C0235864,C538389,,2865
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
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
251940,Desmoplastic infantile astrocytoma/ganglioglioma,Disease,Disorder,2A00.21,0016731,D33.0,,C4757951,,,
251946,Dysembryoplastic neuroepithelial tumor,Disease,Disorder,XH0H76,0005505,D33.0,,C1266177,,,10640
2228,Hypodontia-dysplasia of nails syndrome,Malformation syndrome,Disorder,LD27.0Y,0008582,Q82.4,189500,C0406735,C536736,,5587
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
251937,Gangliocytoma,Disease,Disorder,2A00.21,0016730,D36.1,,C5779630,,,10638
2232,Primary hypergonadotropic hypogonadism-partial alopecia syndrome,Disease,Disorder,GA30.6,0009420,E29.1,241090,C2931374,C536949,,
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
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
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
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
2235,Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,Disease,Disorder,,0016386,E23.0,,C2931722,C538075,,
251992,Ganglioneuroma,Disease,Disorder,2A00.21,0005033,D36.1,,C0017075,D005729,10017709,
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
251867,Classic medulloblastoma,Histopathological subtype,Subtype of disorder,2A00.10,0016712,C71.6,155255,C1707400,,,
2199,Epidermolytic palmoplantar keratoderma,Disease,Disorder,EC20.30,0007758,Q82.8,144200,C1721006,D053546,,2826
251863,Desmoplastic/nodular medulloblastoma,Histopathological subtype,Subtype of disorder,2A00.10,0016711,C71.6,155255,C0751291,,,
2200,Focal palmoplantar and gingival keratoderma,Disease,Disorder,,0007860,Q82.8,148730,C1835650,C536157,,3098
2198,Palmoplantar keratoderma-esophageal carcinoma syndrome,Disease,Disorder,EC20.31,0007856,Q82.8,148500,C1835664,C536164,,3102
251858,Medulloblastoma with extensive nodularity,Histopathological subtype,Subtype of disorder,2A00.10,0016710,C71.6,155255,C1334970,,,
495,Transgrediens et progrediens palmoplantar keratoderma,Disease,Disorder,,0018853,Q82.8,133200,C1851480,,,3096
251855,Anaplastic/large cell medulloblastoma,Histopathological subtype,Subtype of disorder,2A00.10,0016709,C71.6,,C4330531,,,
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
251880,Ependymoblastoma,Disease,Disorder,,,,,C0700367,,10014966,
2201,Palmoplantar keratoderma-spastic paralysis syndrome,Disease,Disorder,,0016353,Q82.8,148360,C2931828,C538358,,3095
251877,Ganglioneuroblastoma,Disease,Disorder,2A00.11,0005035,C71.9,,C0206718,D018305,10017708,
2202,Palmoplantar keratoderma-deafness syndrome,Disease,Disorder,EC20.30,0007852,Q82.8,148350,C1835672,C536152,,3094
251870,Central nervous system embryonal tumor,Clinical group,Group of disorders,,,,,C1333378,,,
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
2213,Hypertelorism-microtia-facial clefting syndrome,Malformation syndrome,Disorder,,0009404,Q87.0,239800,C0220742,C537632,,897
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
251915,Papillary tumor of the pineal region,Disease,Disorder,XH3904,0016724,D44.5,,C2985219,,,
251912,Pineocytoma,Disease,Disorder,2A00.20,0016723,D44.5,,C0917890,,10035059,8207
2218,Cervical hypertrichosis-peripheral neuropathy syndrome,Disease,Disorder,LD27.3,0009405,G60.0,239840,C4303793,,,1226
251909,Pineoblastoma,Disease,Disorder,2A00.20,0016722,C75.3,,C0205898,,10050487,9369
2215,Multiple pterygium-malignant hyperthermia syndrome,Malformation syndrome,Disorder,,0009012,G71.8,217150,C4304748,,,3361
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
251019,2q32q33 deletion syndrome,Malformation syndrome,Disorder,LD44.20,0012864,Q93.5,612313,C4304531,,,
2266,"Hypotrichosis-intellectual disability, Lopes type",Disease,Disorder,,0016414,Q82.4,,C4509839,,,
251028,SATB2-associated syndrome due to a chromosomal rearrangement,Etiological subtype,Subtype of disorder,,0016653,Q93.5,612313,C4706258,,,
2269,Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,Disease,Disorder,LD27.0Y,0009444,Q82.4,242510,C1855788,C537364,,292
2267,OBSOLETE: Ichthyosis-cheek-eyebrow syndrome,Disease,Disorder,,,,,,,,
251038,3q29 microduplication syndrome,Malformation syndrome,Disorder,LD41.20,0012761,Q92.3,611936,C2749873,C567626,,10360
250999,1q41q42 microdeletion syndrome,Malformation syndrome,Disorder,LD44.10,0012927,Q93.5,612530,C4274528,,,3738
2261,"Hypospadias-intellectual disability, Goldblatt type syndrome",Malformation syndrome,Disorder,,0009435,Q87.8,241760,C4274844,,,2928
251004,Paternal uniparental disomy of chromosome 1 syndrome,Malformation syndrome,Disorder,LD45.1,0016650,Q99.8,,C4707800,,,
251009,Maternal uniparental disomy of chromosome 1 syndrome,Malformation syndrome,Disorder,LD45.0,0016651,Q99.8,,C4749302,,,
672,Pallister-Hall syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007804,Q87.8,146510,C0265220,D054975,10089178,7305
251014,2q31.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.20,0016652,Q93.5,,C4274647,,,
455,Superficial epidermolytic ichthyosis,Disease,Disorder,EC20.03,0007813,Q80.8,146800,C0432306,D053560,,2966
251061,7q31 microdeletion syndrome,Malformation syndrome,Disorder,LD44.70,0016656,Q93.5,,C4750783,,,
251066,8p11.2 deletion syndrome,Malformation syndrome,Disorder,LD44.81,0016657,Q93.5,,C4304505,,,
2272,Ichthyosis-oral and digital anomalies syndrome,Malformation syndrome,Disorder,LD27.2,0009792,Q87.8,258840,C4518538,,,2960
251071,8p23.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.81,0016658,Q93.5,,C2931638,C537827,,3769
2274,Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,Disease,Disorder,,0009445,Q87.8,242520,C1275088,C535727,,1993
251076,8p23.1 duplication syndrome,Malformation syndrome,Disorder,LD41.71,0016659,Q92.3,,C4707330,,,10304
2273,Ichthyosis follicularis-alopecia-photophobia syndrome,Disease,Disorder,LD27.2,0100213,Q80.8,619016,C1839988,C536085,,2952
251043,Ring chromosome 5 syndrome,Malformation syndrome,Disorder,LD7Y,0016654,Q93.2,,C4707450,,,10841
165,Neutral lipid storage disease,Clinical group,Group of disorders,5C52.2,0015611,,,C5848057,,,3262
139,CHILD syndrome,Disease,Disorder,LD24.04,0010621,Q87.8,308050,C0265267,C562515,10081963,6039
251046,6p22 microdeletion syndrome,Malformation syndrome,Disorder,LD44.61,0016655,Q93.5,,C4304528,,,
457,Harlequin ichthyosis,Disease,Disorder,EC20.02,0009443,Q80.4,242500,C0239849,C538424,10019163,6568
2271,Congenital ichthyosis-microcephalus-tetraplegia syndrome,Disease,Disorder,,0016417,Q87.8,,C5679626,,,
251056,6q25.2q25.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.60,0013025,Q93.5,612863,C4304527,,,3764
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
250831,Logopenic progressive aphasia,Disease,Disorder,6D83,0016644,G31.0,,C4274665,,,10791
2249,Ulna hypoplasia-intellectual disability syndrome,Malformation syndrome,Disorder,,0010165,Q87.2,276821,C4304398,C536934,,5398
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,,,
2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,Malformation syndrome,Disorder,LD2F.1Y,,Q43.8,249210,C1608393,C536138,10064596,3442
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,,,
2256,Fibulo-ulnar hypoplasia-renal anomalies syndrome,Malformation syndrome,Disorder,,0009233,Q87.8,228940,C1856727,C537226,,320
2257,Primary pulmonary hypoplasia,Morphological anomaly,Disorder,LA75.2,0009936,Q33.6,265430,C0456891,,,
250977,AICA-ribosiduria,Disease,Disorder,5C55.0Y,0012099,E79.8,608688,C1837530,C563876,,
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
250989,1q21.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.10,0012914,Q93.5,612474,C2675897,C567291,,10813
2250,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,Disease,Disorder,,0016393,Q87.0,603457,C4510568,,,
250923,Isolated aniridia,Morphological anomaly,Disorder,LA11.3,0007119,Q13.1,617141,C0003076,,,5816
2251,Thumb deformity-alopecia-pigmentation anomaly syndrome,Malformation syndrome,Disorder,LD27.0Y,0008562,Q87.1,188150,C1861168,C536904,,5199
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
250972,Polymicrogyria with optic nerve hypoplasia,Malformation syndrome,Disorder,,0013172,Q04.3,,C2750798,C567715,,
2255,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,Disease,Disorder,KB60.2Y,0010802,Q87.8,600001,C2931296,C536714,,347
250932,Autosomal dominant optic atrophy and peripheral neuropathy,Disease,Disorder,9C40.B1,0016646,H47.2,,C4273829,,,
251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,Disease,Disorder,3A51.3,0016672,D57.2,305435,C5190890,,,
2306,Isotretinoin-like syndrome,Malformation syndrome,Disorder,,0009473,Q87.8,243440,C0432364,C535542,,9675
251383,CK syndrome,Malformation syndrome,Disorder,,0010441,Q87.0,300831,C3151781,,,
2305,Isotretinoin syndrome,Malformation syndrome,Disorder,LD2F.0Y,0016467,Q86.8,,C2930972,C535670,,
251370,Sickle cell S-D Punjab disease,Clinical subtype,Subtype of disorder,3A51.3,0016670,D57.2,,C0272084,,10056724,12458
251375,Sickle cell S-E disease,Clinical subtype,Subtype of disorder,3A51.3,0016671,D57.2,,C1112747,,,
251359,Sickle cell-beta-thalassemia disease,Disease,Disorder,3A51.4,0016668,D57.2,,C0221019,,10040655,10333
251365,Sickle cell S-C disease,Disease,Disorder,3A51.3,0016669,D57.2,,C0019034,D006450,10057072,6584
2295,Familial articular hypermobility syndrome,Disease,Disorder,LD28.Y,0007842,Q79.6,147900,C0268349,C535884,,3054
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
251558,Rare tumor of neuroepithelial tissue,Category,Group of disorders,,,,,C5680709,,,
251523,Hyperzincemia and hypercalprotectinemia,Disease,Disorder,,,E83.2,601979,C4760957,C565988,10081947,
2316,Johnson neuroectodermal syndrome,Malformation syndrome,Disorder,LD27.0Y,0007837,Q87.8,147770,C0796002,C535882,,378
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
251510,"46,XY partial gonadal dysgenesis",Malformation syndrome,Disorder,LD2A.1,0016674,Q56.1,615542,C4510744,,,
251515,Distal arthrogryposis type 10,Malformation syndrome,Disorder,,0016675,Q68.8,187370,C1861238,C566069,,
2310,Absence deformity of leg-cataract syndrome,Malformation syndrome,Disorder,,0009516,Q87.2,246000,C4274843,,,
2309,Pachyonychia congenita,Disease,Disorder,LD27.Y,0016471,Q84.5,615728,C0265334,D053549,10080088,10753
251393,Localized junctional epidermolysis bullosa,Disease,Disorder,EC31,0016673,Q81.8,226650,C0474889,,,
2307,IVIC syndrome,Malformation syndrome,Disorder,,0007836,Q71.8,147750,C1327918,C535544,,269
251295,Pigmented paravenous retinochoroidal atrophy,Disease,Disorder,9B7Y,0008246,H35.5,172870,C1868310,C566801,,
251290,Parietal foramina with clavicular hypoplasia,Malformation syndrome,Disorder,LB70.Y,0008198,Q74.0,168550,C1868597,C566825,,
2282,Dysmorphism-short stature-deafness-difference of sex development syndrome,Malformation syndrome,Disorder,,0016433,Q87.8,,C4518561,,,
251287,Benign concentric annular macular dystrophy,Disease,Disorder,9B75.Y,0007934,H35.5,153870,C4304667,,,9887
251282,Autosomal dominant spastic ataxia type 1,Disease,Disorder,8A03.1Y,0007164,G11.4,108600,C1970107,C566993,,
251279,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,Disease,Disorder,LA10.Y,0012605,Q15.8,611040,C4755272,,,
251274,Familial hyperaldosteronism type III,Disease,Disorder,5A72.0,0013359,E26.0,613677,C3838758,,,12362
2278,Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,Malformation syndrome,Disorder,,0009446,Q87.1,242530,C4518580,C536274,,4641
251262,Familial osteochondritis dissecans,Disease,Disorder,FB82.1,0100462,M93.2,,C3665488,C580095,,4133
2291,Congenital velopharyngeal incompetence,Morphological anomaly,Disorder,LA50,0008180,J39.2,167500,C1997202,,,5470
251347,Ataxia-telangiectasia-like disorder,Disease,Disorder,4A01.31,0024557,G11.3,604391,C1858391,C565779,,
251332,Unexplained long-lasting fever/inflammatory syndrome,Disease,Disorder,MG26,0016666,R50.8,,C5679630,,,
251328,Unclassified vasculitis,Disease,Disorder,4A44.Y,0016665,I77.6,,C5680712,,,
2289,Neuronal intranuclear inclusion disease,Disease,Disorder,8A0Y,0011327,G31.0,603472,C1863843,C537395,10084235,3971
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
251316,OBSOLETE: Unclassified overlapping connective tissue disease,Disease,Disorder,,,,,,,,
2287,Fused mandibular incisors,Morphological anomaly,Disorder,LA30.4,0007820,K00.2,147251,C3494175,,,2419
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
251307,Idiopathic recurrent pericarditis,Disease,Disorder,BB2Y,0016662,I09.2,,C4707790,,,
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,,,
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
254846,Isolated oxidative phosphorylation complex disorder,Category,Group of disorders,,,,,C5679632,,,
254837,Unspecified mitochondrial disorder,Clinical group,Group of disorders,,,,,C5680715,,,
2673,Neurofaciodigitorenal syndrome,Malformation syndrome,Disorder,,0009740,Q87.8,256690,C0796088,C537388,,3964
2672,Neuhauser-Eichner-Opitz syndrome,Malformation syndrome,Disorder,,0007539,G93.4,130950,C1851708,C536407,,
2679,OBSOLETE: Infantile axonal neuropathy,Disease,Disorder,,,,,,,,
254857,Lethal infantile mitochondrial myopathy,Disease,Disorder,8C73.Y,0010792,G71.3,551000,C1838876,C564017,,
2678,Familial isolated café-au-lait macules,Malformation syndrome,Disorder,EC23.0,,L81.3,114030,C1861975,,,3967
254864,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,Disease,Disorder,8C73.Y,0010780,G71.3,500009,C5191317,,,
2676,Neuroectodermal-endocrine syndrome,Malformation syndrome,Disorder,,,,,,,,
254851,Mitochondrial DNA-related dystonia,Disease,Disorder,8C73.Y,0016806,E88.8,,C4274074,,,
254854,Pure mitochondrial myopathy,Disease,Disorder,8C73.Y,0016807,G71.3,,C4517289,,,
2668,Nephropathy-deafness-hyperparathyroidism syndrome,Malformation syndrome,Disorder,LD2H.Y,0009729,Q87.8,256120,C4518325,C536401,,3940
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
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
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,,,
2671,Neu-Laxova syndrome,Malformation syndrome,Disorder,LD20.1,0000179,Q87.8,616038,C0265218,C536405,,102
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
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
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
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,,,
254925,Combined oxidative phosphorylation defect type 4,Disease,Disorder,5C53.23,0012534,E88.8,610678,C1857682,C565690,,
2697,Arthrogryposis-renal dysfunction-cholestasis syndrome,Malformation syndrome,Disorder,5C58.0Y,0017123,Q89.7,208085,C4551984,C535382,,794
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,,
2695,Bifid nose,Malformation syndrome,Disorder,LA70.1,0000110,Q30.2,210400,C0221363,C535441,,884
254913,Isolated ATP synthase deficiency,Disease,Disorder,5C53.25,0014471,E88.8,614053,C4757950,,,
255182,Pyruvate dehydrogenase E3-binding protein deficiency,Clinical subtype,Subtype of disorder,5C53.02,0009503,E74.4,245349,C1855553,C565447,,
2701,Noonan syndrome-like disorder with loose anagen hair,Malformation syndrome,Disorder,LD2F.1Y,0011899,Q87.1,617506,C1843181,,,10719
255138,Pyruvate dehydrogenase E1-beta deficiency,Clinical subtype,Subtype of disorder,5C53.02,0013580,E74.4,614111,C3279841,C566729,,
255132,Adult-onset autosomal recessive sideroblastic anemia,Disease,Disorder,3A72.00,0014804,D64.0,616860,C4304054,,,
2698,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,Disease,Disorder,LD2H.Y,0007866,Q82.8,149200,C0266004,C537210,,3125
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
254886,Autosomal recessive progressive external ophthalmoplegia,Disease,Disorder,9C82.0,0016810,H49.4,617069,C1850303,C564926,,1191
254881,Spinocerebellar ataxia with epilepsy,Disease,Disorder,5C53.21,0016809,E88.8,607459,C1843852,C564395,,
254875,"Mitochondrial DNA depletion syndrome, myopathic form",Disease,Disorder,5C53.20,0012301,G71.3,609560,C3501891,C563698,,
254871,"Mitochondrial DNA depletion syndrome, hepatocerebral form",Clinical group,Group of disorders,,0100512,,,C3711385,C580039,,
254905,Isolated cytochrome C oxidase deficiency,Disease,Disorder,5C53.2Y,0009068,E88.8,619052,C5779825,D030401,,48
254902,Renal tubulopathy-encephalopathy-liver failure syndrome,Disease,Disorder,5C53.2Y,0016811,E88.8,124000,C4274075,,,
2690,Neutropenia-monocytopenia-deafness syndrome,Disease,Disorder,LD2H.Y,0017100,D82.8,,C4518430,,,
254898,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,Disease,Disorder,5C53.22,0013837,E88.8,614651,C4706538,,,
2691,Nevo syndrome,Malformation syndrome,Disorder,,,,,C2936777,C536113,,
254892,Autosomal dominant progressive external ophthalmoplegia,Disease,Disorder,9C82.0,0008003,H49.4,157640,C5231255,,,
2712,Oculofaciocardiodental syndrome,Malformation syndrome,Disorder,LD21.0,,Q87.8,300166,C1846265,,,4628
2714,Oculo-palato-cerebral syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009769,Q87.1,257910,C1850338,C564935,,
2713,Oculoosteocutaneous syndrome,Malformation syndrome,Disorder,LD27.0Y,0008884,Q87.5,211370,C1859385,C565893,,992
2716,OBSOLETE: Oculo-skeletal-renal syndrome,Malformation syndrome,Disorder,,,,,,,,
2715,Severe oculo-renal-cerebellar syndrome,Malformation syndrome,Disorder,,,Q04.8,257970,C1850331,C537739,,4050
2718,Oculotrichodysplasia,Malformation syndrome,Disorder,LD27.0Y,0009771,Q82.4,257960,C1850332,C564934,,
2717,Oculotrichoanal syndrome,Malformation syndrome,Disorder,,0009560,Q87.8,248450,C1855425,C536022,,3395
2704,Urofacial syndrome,Malformation syndrome,Disorder,LD2F.1Y,0000463,N31.8,615112,C0403555,C536480,10089227,104
255199,OBSOLETE: Sporadic Leigh syndrome,Disease,Disorder,,,,,,,,
2703,Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,Malformation syndrome,Disorder,,0100367,Q03.8,,C5191040,,,
255210,Mitochondrial DNA-associated Leigh syndrome,Disease,Disorder,8C73.Y,0016814,E88.8,500017,C2931092,C536035,,3671
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
2707,"Oculocerebrofacial syndrome, Kaufman type",Malformation syndrome,Disorder,,0009485,Q87.0,244450,C1855663,C537013,,3084
255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy",Disease,Disorder,5C53.20,0012792,G31.8,612075,C2749861,,,13200
2710,Oculodentodigital dysplasia,Malformation syndrome,Disorder,LD27.0Y,0008111,Q87.8,257850,C0812437,C563160,10063691,7239
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
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
2730,Postaxial tetramelic oligodactyly,Malformation syndrome,Disorder,,0008298,Q73.8,176240,C1867924,C566767,,4065
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
2733,Omodysplasia,Malformation syndrome,Disorder,LD24.A,0017136,Q78.8,258315,C4510897,,,
2719,"Oculocerebral hypopigmentation syndrome, Cross type",Malformation syndrome,Disorder,EC23.20,0009767,E70.3,257800,C2936910,,,105
2720,"Oculocerebral hypopigmentation syndrome, Preus type",Malformation syndrome,Disorder,,0009766,E70.3,257790,C2931646,C537866,,4034
2721,Odonto-onycho-dermal dysplasia,Disease,Disorder,LD27.0Y,0009773,Q82.4,257980,C0796093,C537742,,4054
2722,Odonto-onycho dysplasia-alopecia syndrome,Malformation syndrome,Disorder,LD27.0Y,0017134,Q82.4,,C4706599,,,4051
2723,Odontotrichomelic syndrome,Malformation syndrome,Disorder,LD27.0Y,0010111,Q82.4,273400,C2930960,C535637,,2381
2724,Odontomatosis-aortae esophagus stenosis syndrome,Malformation syndrome,Disorder,,0008118,D16.5,164330,C1834013,C537740,,238
260305,Autosomal recessive sideroblastic anemia,Disease,Disorder,3A72.00,0016828,D64.0,205950,C4274077,,,
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
2754,Orofaciodigital syndrome type 6,Malformation syndrome,Disorder,LD25.00,0010176,Q04.3,617127,C2745997,C536531,,4412
252164,Benign schwannoma,Disease,Disorder,2F3Y,,D36.1,,C0027809,D009442,10029235,4767
2753,Orofaciodigital syndrome type 4,Malformation syndrome,Disorder,LD25.00,0009794,Q87.0,258860,C0406727,C537133,,816
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
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
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
2743,Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,Malformation syndrome,Disorder,,0008130,H51.2,165150,C5190740,,,3236
2742,OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome,Disease,Disorder,,,,,,,,
252054,Hemangioblastoma,Disease,Disorder,,0016748,D33.7,,C0206734,D018325,10018813,8232
2741,Ophthalmomandibulomelic dysplasia,Malformation syndrome,Disorder,9A70.Y,0008127,Q87.8,164900,C1833872,C563501,,4365
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
2736,Lethal omphalocele-cleft palate syndrome,Malformation syndrome,Disorder,,0009780,Q87.8,258320,C1850317,C537747,,4079
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
2776,Autosomal recessive distal osteolysis syndrome,Malformation syndrome,Disorder,FB86.2,0009810,M89.5,259610,C1850143,C536052,,
2777,Osteomesopyknosis,Malformation syndrome,Disorder,LD24.10,0008155,Q78.2,166450,C0432264,C537792,,391
254361,Plectin-related limb-girdle muscular dystrophy R17,Disease,Disorder,,0013390,G71.0,613723,C3150989,,,
2774,Multicentric carpo-tarsal osteolysis with or without nephropathy,Malformation syndrome,Disorder,FB86.2,0008152,M89.5,166300,C2674705,C567171,,
254351,Distal 7q11.23 microdeletion syndrome,Malformation syndrome,Disorder,LD44.70,0013393,Q93.5,613729,C4749584,,,
2775,Autosomal recessive carpotarsal osteolysis,Disease,Disorder,,,,,,,,
2769,"Familial osteodysplasia, Anderson type",Malformation syndrome,Disorder,LD25.3,0009801,Q87.5,259250,C1850186,C564923,,4136
254346,19p13.12 microdeletion syndrome,Malformation syndrome,Disorder,LD44.K1,0016765,Q93.5,,C4304579,,,10991
2770,Nasu-Hakola disease,Malformation syndrome,Disorder,8A44.3,0009092,G31.8,221770,C1857316,C536329,,9921
254343,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,Disease,Disorder,,0013354,E88.8,613672,C3150925,,,10992
2767,Carpotarsal osteochondromatosis,Malformation syndrome,Disorder,LD24.2Y,0007490,D16.9,127820,C1851956,C565076,,1128
254334,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,Disease,Disorder,8C20.2,0013338,G60.0,613641,C4750786,,,
2768,Blount disease,Malformation syndrome,Disorder,FB82.1,0017194,M92.5,259200,C0220757,C536237,10072255,916
2765,OBSOLETE: Hypertrichotic osteochondrodysplasia,Malformation syndrome,Disorder,,,,,,,,
2762,Progressive osseous heteroplasia,Malformation syndrome,Disorder,FB31.0,0008153,M61.5,166350,C0334041,C562735,10048902,109
252212,Malignant triton tumor,Histopathological subtype,Subtype of disorder,XH2VV8,0016757,C47.9,,C0334616,,,
2763,Osteocraniostenosis,Malformation syndrome,Disorder,LD24.D,0011215,Q78.0,602361,C1865639,C537291,,3396
252206,Melanoma and neural system tumor syndrome,Disease,Disorder,,0007967,D43,155755,C1835042,C536149,,8468
252202,Constitutional mismatch repair deficiency syndrome,Disease,Disorder,,,D80.8,619097,C4321324,,,
2759,Imperforate oropharynx-costovertebral anomalies syndrome,Malformation syndrome,Disorder,,0017162,Q87.5,,C4749770,,,2989
2760,OSLAM syndrome,Malformation syndrome,Disorder,,0008139,C41.9,165660,C1833792,C537138,,4129
252190,Inherited nervous system cancer-predisposing syndrome,Category,Group of disorders,,,,,C5680719,,,
252183,Neurofibroma,Disease,Disorder,2F3Y,0016755,D36.1,,C0027830,D009455,10029267,7191
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
2793,Otoonychoperoneal syndrome,Malformation syndrome,Disorder,LD27.4,0009822,Q87.5,259780,C1850105,C564912,,4170
2792,Otofaciocervical syndrome,Malformation syndrome,Disorder,,0008163,Q87.0,615560,C1833691,C563481,,4169
254519,Kagami-Ogata syndrome,Malformation syndrome,Disorder,,16779,Q87.8,608149,C5779872,,,
254525,Temple syndrome due to paternal 14q32.2 microdeletion,Etiological subtype,Subtype of disorder,LD44.E,0016780,Q93.5,616222,C5679639,,,
2798,Pachygyria-intellectual disability-epilepsy syndrome,Malformation syndrome,Disorder,,0010840,G40.4,600176,C1838491,C538091,,409
2796,Pachydermoperiostosis,Malformation syndrome,Disorder,FB86.10,,M89.4,614441,,,10051686,7299
254528,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,Etiological subtype,Subtype of disorder,LD44.E,0016781,Q93.5,608149,C5679640,,,
254478,Lichen planus pemphigoides,Disease,Disorder,EB41.Y,0016775,L43.8,,C0406369,,10087934,12677
2789,Lateral meningocele syndrome,Malformation syndrome,Disorder,LA07.Y,0007537,Q87.5,130720,C1851710,C537878,,9873
2788,Osteoporosis-pseudoglioma syndrome,Disease,Disorder,LD24.KY,0009820,Q87.5,259770,C0432252,C536063,10052452,4160
254492,Frontal fibrosing alopecia,Disease,Disorder,EA91.2,0016776,L66.1,,C4255374,,,10886
2791,Otodental syndrome,Malformation syndrome,Disorder,LA30.4,0008161,K00.2,166750,C1833693,C563482,,4168
254504,Inhalational botulism,Clinical subtype,Subtype of disorder,1A11.1,0016777,A05.1,,C1443900,,,
2790,"Endosteal hyperostosis, Worth type",Malformation syndrome,Disorder,LD24.1Y,0007764,Q78.2,144750,C0432273,C536748,,390
254509,Iatrogenic botulism,Clinical subtype,Subtype of disorder,1A11.1,0016778,A05.1,,C4288922,,,
1306,NON RARE IN EUROPE: Buschke-Ollendorff syndrome,Malformation syndrome,Disorder,,,,,,,,
254411,Annular atrophic lichen planus,Disease,Disorder,,0016771,L43.8,,C4304037,,,12676
254424,Annular lichen planus,Disease,Disorder,EA91.Y,0016772,L43.8,,C0406363,,,12674
2783,Autosomal dominant osteopetrosis type 1,Malformation syndrome,Disorder,LD24.10,0011877,Q78.2,607634,C1843330,C536056,,4151
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
2786,Osteoporosis-oculocutaneous hypopigmentation syndrome,Malformation syndrome,Disorder,LD24.KY,0011020,Q87.5,601220,C1832592,C536062,,404
254463,Lichen planus pigmentosus,Disease,Disorder,EA91.Y,0016774,L43.8,,C0406366,,,10816
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
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
254379,Linear lichen planus,Disease,Disorder,EA91.Y,0016769,L43.8,,C0023650,,,11898
254395,Actinic lichen planus,Disease,Disorder,EA91.Y,0016770,L43.8,,C0406365,,,12673
667,Autosomal recessive malignant osteopetrosis,Malformation syndrome,Disorder,LD24.10,0019026,Q78.2,615085,C1318518,,,
2815,Spastic paraparesis-deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0010732,G11.4,312910,C2931291,C536692,,5555
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,,,
2818,Spastic paraplegia-glaucoma-intellectual disability syndrome,Disease,Disorder,,0010049,G11.4,270850,C4518786,,,4931
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
2809,Familial recurrent peripheral facial palsy,Disease,Disorder,8B88.0,0007592,G51.0,134200,C1851399,C565028,,
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
254746,Pyruvate metabolism disorder,Category,Group of disorders,,0016789,,,C0268192,,,
2805,Partial pancreatic agenesis,Morphological anomaly,Disorder,LB21.4,,Q45.0,615935,C4305001,,,4203
254698,Epithelioid trophoblastic tumor,Disease,Disorder,2C75.0,0016787,C58,,C1266159,,,
254693,Partial hydatidiform mole,Clinical subtype,Subtype of disorder,JA02.1,0016786,O01.1,,C0334529,,,
675,Annular pancreas,Morphological anomaly,Disorder,LB21.0,0008183,Q45.1,167750,C0149955,C536376,10071757,705
2807,Papilloma of choroid plexus,Disease,Disorder,2A00.22,0009837,D33.0,260500,C0205770,D020288,10008777,4214
254707,Faisalabad histiocytosis,Disease,Disorder,,,,,,,,
678,Papillon-Lefèvre syndrome,Disease,Disorder,EC20.30,0009490,Q82.8,245000,C0030360,D010214,10082856,3100
254704,Genetic hyperferritinemia without iron overload,Biological anomaly,Disorder,,0016788,R77.8,,C4707880,,,
254534,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,Etiological subtype,Subtype of disorder,LD2Y,0016783,Q99.8,608149,C5680720,,,
2802,X-linked sideroblastic anemia and spinocerebellar ataxia,Disease,Disorder,3A72.01,0010524,D64.0,301310,C1845028,C536358,,668
254531,Temple syndrome due to paternal 14q32.2 hypomethylation,Etiological subtype,Subtype of disorder,LD2Y,0016782,Q87.8,616222,C5680721,,,
254688,Complete hydatidiform mole,Clinical subtype,Subtype of disorder,JA02.0,0016785,O01.0,618432,C0678213,,,
2804,W syndrome,Malformation syndrome,Disorder,,0010708,Q87.8,311450,C0796110,C538106,10084236,358
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
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
2498,Syndactyly type 8,Morphological anomaly,Disorder,LB79.Y,0010669,Q70.0,309630,C1839728,C564100,,3559
261730,OBSOLETE: Anomaly of chromosome 11,Category,Group of disorders,,,,,,,,
2499,Metachondromatosis,Malformation syndrome,Disorder,LD24.2Y,0007979,Q78.4,156250,C0410530,C562938,,3560
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
2497,"Upper limb mesomelic dysplasia, type Fryns",Malformation syndrome,Disorder,LD24.A,0008620,Q78.8,191440,C5574958,C538069,,2408
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
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
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
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
2505,Multiple benign circumferential skin creases on limbs,Disease,Disorder,,0007990,Q82.8,616734,C0473586,C537575,,3589
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
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
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
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
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
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
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
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
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,,,
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
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
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
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
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
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
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
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,,,
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
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
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
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
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,,,
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
2561,Pyramidal molars-abnormal upper lip syndrome,Malformation syndrome,Disorder,,0008706,K00.2,200970,C1860167,C538170,,469
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
2564,Tetramelic monodactyly,Malformation syndrome,Disorder,,0008544,Q73.8,187510,C1861233,C566066,,3707
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
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
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
2572,Spastic ataxia-corneal dystrophy syndrome,Disease,Disorder,9A70.Y,0010064,G11.8,271320,C1849085,C536989,,3795
2573,Moyamoya disease,Disease,Disorder,8B22.B,0016820,I67.5,614042,C0026654,D009072,10028047,7064
2570,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,Malformation syndrome,Disorder,,0010610,Q04.2,306990,C4274798,,,3788
2571,X-linked immunoneurologic disorder,Disease,Disorder,4A01.0Y,0010243,D82.8,300076,C1848144,C536743,,274
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
2585,Ataxia-pancytopenia syndrome,Malformation syndrome,Disorder,,0008038,D61.0,159550,C1327919,C563233,,3865
261144,FOXG1 syndrome due to 14q12 microdeletion,Clinical subtype,Subtype of disorder,LD44.E,0016833,Q93.5,,C4305240,,,
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,,,
2578,Mayer-Rokitansky-Küster-Hauser syndrome type 2,Clinical subtype,Subtype of disorder,LD2F.14,0010989,Q87.8,601076,C4305568,,,5513
2579,Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,Disease,Disorder,,0008023,G11.1,158500,C2931765,C538193,,2417
261112,Monosomy 9p syndrome,Malformation syndrome,Disorder,LD44.91,0008013,Q93.5,158170,C0795830,C538024,,3773
261102,Distal 7q11.23 microduplication syndrome,Malformation syndrome,Disorder,LD41.60,0016832,Q92.3,,C4750782,,,
2576,Mulibrey nanism,Malformation syndrome,Disorder,LD2F.1Y,0009664,Q87.1,253250,C0524582,D050336,,95
261236,16p13.11 microdeletion syndrome,Malformation syndrome,Disorder,LD44.G1,0016836,Q93.5,,C4304596,,,
2608,N syndrome,Malformation syndrome,Disorder,LD2H.Y,0010686,Q87.8,310465,C2936859,C536108,,3902
261243,16p13.11 microduplication syndrome,Malformation syndrome,Disorder,LD41.F1,0016837,Q92.3,,C4304595,,,
261222,Distal 16p11.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.G1,0013267,Q93.5,613444,C4518824,,,
1359,Carney complex,Disease,Disorder,5A70.Y,0015285,D44.8,605244,C0406810,D056733,10076601,1119
2593,Tubular aggregate myopathy,Disease,Disorder,8C72.Y,0008051,G71.2,615883,C0410207,,,3884
261229,14q11.2 microduplication syndrome,Malformation syndrome,Disorder,LD41.D,0016835,Q92.3,,C4749855,,,
2590,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,Disease,Disorder,,0008045,G25.3,159950,C1834569,C537563,,3875
261204,16p11.2p12.2 microduplication syndrome,Malformation syndrome,Disorder,,0016834,Q92.3,,C4518821,,,
2589,Myoclonus-cerebellar ataxia-deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0008043,G11.1,159800,C4518566,,,3873
261211,16p11.2p12.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.G1,0013320,Q93.5,613604,C4304597,,,
2588,Myhre syndrome,Malformation syndrome,Disorder,,0007688,Q87.8,139210,C0796081,C537620,,2572
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,,,
261197,Proximal 16p11.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.G1,0012756,Q93.5,611913,C4273657,,,10740
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
261304,Paternal 20q13.2q13.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.L0,0016842,Q93.5,,C4510306,,,
261279,17q23.1q23.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.H0,0013238,Q93.5,613355,C4304591,,,10936
261290,Trisomy 17p syndrome,Malformation syndrome,Disorder,,0016840,Q92.2,,C0795865,C538048,,5318
2617,"Microcephalic primordial dwarfism, Montreal type",Malformation syndrome,Disorder,,0008870,Q87.1,210700,C1859468,C535448,,895
261265,17q12 microdeletion syndrome,Malformation syndrome,Disorder,LD44.H0,0013797,Q93.5,614527,C4518822,,,13297
261272,17q12 microduplication syndrome,Malformation syndrome,Disorder,LD41.G0,0013796,Q92.3,614526,C3281137,,,13296
2616,3M syndrome,Malformation syndrome,Disorder,LD24.D,0007477,Q87.1,614205,C1848862,C535314,10081775,5667
261250,16q24.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.G0,0016838,Q93.5,,C4304594,,,10935
2613,Nail-patella-like renal disease,Disease,Disorder,GB4Y,0009724,N07.8,256020,C0403548,C537228,,321
261257,Distal 17p13.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.H1,0016839,Q93.5,,C4707092,,,
261344,Trisomy 1q syndrome,Malformation syndrome,Disorder,,0016847,Q92.2,,C4708596,,,
261337,Distal 22q11.2 microduplication syndrome,Malformation syndrome,Disorder,LD41.M,0016846,Q92.3,,C4706942,,,
261476,Xp21 deletion syndrome,Disease,Disorder,LD51,0010399,Q99.8,300679,C4505291,,,
261349,2p15p16.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.21,0012916,Q93.5,612513,C4304538,,,13391
261318,Trisomy 20p syndrome,Malformation syndrome,Disorder,LD41.K1,0016844,Q92.2,,C2930888,C535371,,5333
261311,20q13.33 microdeletion syndrome,Malformation syndrome,Disorder,LD44.L0,0016843,Q93.5,,C4518823,,,
2623,Geleophysic dysplasia,Malformation syndrome,Disorder,LD24.8Y,0000127,Q87.1,617809,C3489726,,10063361,2449
261330,Distal 22q11.2 microdeletion syndrome,Malformation syndrome,Disorder,LD44.NY,0012740,Q93.5,611867,C4518343,,,
261323,21q22.11q22.12 microdeletion syndrome,Malformation syndrome,Disorder,LD44.M,0016845,Q93.5,619981,C5192593,,,
261524,Paternal uniparental disomy of chromosome X syndrome,Malformation syndrome,Disorder,LD45.1,0016852,Q99.8,,C5191049,,,
2639,Fibular aplasia-complex brachydactyly syndrome,Malformation syndrome,Disorder,LD26.0,0009231,Q73.8,228900,C1856738,C537931,,9879
261519,Maternal uniparental disomy of chromosome X syndrome,Malformation syndrome,Disorder,LD45.0,0016851,Q99.8,,C5191056,,,
261534,"49,XXXYY syndrome",Malformation syndrome,Disorder,,0016854,Q98.8,,C4749586,,,10922
2640,"Lethal short-limb dwarfism, McAlister-Crane type",Malformation syndrome,Disorder,,,,,,,,
261529,Ring chromosome Y syndrome,Malformation syndrome,Disorder,LD53,0016853,Q98.6,,C4706450,,,
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
261494,Kleefstra syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012455,Q87.8,610253,C4551771,,10079365,8672
261483,Xq27.3q28 duplication syndrome,Malformation syndrome,Disorder,LD51,0010467,Q99.8,300869,C4305103,,,
2632,Langer mesomelic dysplasia,Malformation syndrome,Disorder,LD24.A,0009588,Q87.1,249700,C0432230,C537267,,3553
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
261501,Atypical Norrie disease due to Xp11.3 microdeletion,Malformation syndrome,Disorder,,0016850,H35.5,,C4518083,,,
2634,"Mesomelic dwarfism, Reinhardt-Pfeiffer type",Malformation syndrome,Disorder,LD24.A,0008618,Q78.8,191400,C1860616,C537349,,3555
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
261584,5q22 microdeletion syndrome,Disease,Disorder,LD44.50,0016860,Q93.5,,C5548205,,,
261600,Alagille syndrome due to 20p12 microdeletion,Etiological subtype,Subtype of disorder,LB20.0Y,0016861,Q44.7,118450,C5679679,,,
261619,Alagille syndrome due to a JAG1 point mutation,Etiological subtype,Subtype of disorder,LB20.0Y,0016862,Q44.7,118450,C5679680,,,
261537,Mowat-Wilson syndrome due to monosomy 2q22,Etiological subtype,Subtype of disorder,LD2F.1Y,0016855,Q43.1,235730,C5437617,,,
2643,"Microcephalic primordial dwarfism, Toriello type",Malformation syndrome,Disorder,LD24.D,0009616,Q87.1,251190,C1855089,C537321,,3602
261552,Mowat-Wilson syndrome due to a ZEB2 point mutation,Etiological subtype,Subtype of disorder,LD2F.1Y,0016856,Q43.1,235730,C5679681,,,
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
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
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,,,
261638,Okihiro syndrome due to 20q13 microdeletion,Etiological subtype,Subtype of disorder,LD44.L0,0016863,Q87.8,607323,C5679682,,,
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,,,
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,,,
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
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
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
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
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,,
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
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
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
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
263665,NK-cell enteropathy,Disease,Disorder,DA94.Y,0016996,K52.8,,C4509932,,,
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
263662,Familial multiple meningioma,Disease,Disorder,2A01.00,0016995,D32.9,607174,C4707361,,,
3034,Delayed membranous cranial ossification,Malformation syndrome,Disorder,LB70.Y,0007971,Q75.8,155980,C1835030,C563592,,1727
263548,Peeling skin syndrome type A,Clinical subtype,Subtype of disorder,EC20.1,0014555,Q80.8,616265,C5679692,,,
3033,Renal tubular dysgenesis,Malformation syndrome,Disorder,LB30.3,0017609,Q63.8,267430,C0266313,,,379
263553,Peeling skin syndrome type B,Clinical subtype,Subtype of disorder,EC20.1,0024548,Q80.8,270300,C5679693,,,
3032,NPHP3-related Meckel-like syndrome,Malformation syndrome,Disorder,LD2F.13,0009966,Q61.9,267010,C2673885,,,4665
263534,Acral peeling skin syndrome,Disease,Disorder,EC20.1,0012345,Q80.8,609796,C1853354,C536316,10078538,12863
263543,Generalized peeling skin syndrome,Disease,Disorder,EC20.1,0010033,Q80.8,270300,C4305156,,,12862
263516,Progressive myoclonic epilepsy type 3,Disease,Disorder,8A61.41,0012721,G40.3,611726,C2673257,C567095,,2167
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,,,
263501,COG4-CDG,Disease,Disorder,5C54.2,0013281,E77.8,613489,C4303552,,,12412
3026,Radial ray hypoplasia-choanal atresia syndrome,Malformation syndrome,Disorder,,0008358,Q87.8,179270,C2931464,C537280,,4627
263508,COG1-CDG,Disease,Disorder,5C54.2,0012637,E77.8,611209,C2931011,C535756,,10226
263482,"Spondyloepimetaphyseal dysplasia, Maroteaux type",Disease,Disorder,LD24.3,0008473,Q77.7,184095,C3159322,,,994
3021,RAPADILINO syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009955,Q87.1,266280,C1849453,C535288,10088963,4637
3022,Rapp-Hodgkin syndrome,Disease,Disorder,,,,129400,C1785148,C535289,,
263479,Fuchs heterochromic iridocyclitis,Disease,Disorder,9A96.1,0016989,H20.8,,C0016782,,10017406,6791
263494,DPM3-CDG,Disease,Disorder,5C54.0,0013049,E77.8,612937,C2752007,C567857,,12395
3023,External auditory canal atresia-vertical talus-hypertelorism syndrome,Malformation syndrome,Disorder,,0007587,Q87.8,133705,C2930867,C535290,,4638
263487,COG5-CDG,Disease,Disorder,5C54.2,0013325,E77.8,613612,C3150876,,,12348
263458,Hyperinsulinism due to INSR deficiency,Disease,Disorder,5A4Y,0012381,E16.1,609968,C4303474,,,
263455,Congenital hyperinsulinism due to HNF4A deficiency,Disease,Disorder,,16988,E16.1,,C4274078,,,
1832,Osteosclerotic bone dysplasia,Malformation syndrome,Disorder,LD24.1Y,0009821,Q78.2,259775,C1850106,C535282,10087908,282
3018,Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,Malformation syndrome,Disorder,,0010177,E78.8,277175,C4510224,C535283,,4635
3019,Ramon syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009954,Q87.8,266270,C0796133,C535285,,7523
263463,CHST3-related skeletal dysplasia,Disease,Disorder,LD24.3,7738,Q74.8,143095,C1837657,,,13169
263432,Nevus of Ito,Disease,Disorder,LC10,0016985,D22.6,,C0022283,,,10830
263425,Nevus of Ota,Disease,Disorder,LC10,0016984,D22.3,,C0027961,D009507,10051713,
3015,Radio-renal syndrome,Malformation syndrome,Disorder,,0008359,Q87.8,179280,C2931146,C536267,,224
263440,Neuroacanthocytosis,Clinical group,Group of disorders,,0016987,,,C0393576,D054546,10081506,10902
263435,Congenital smooth muscle hamartoma,Disease,Disorder,,0016986,C44.8,,C0406819,,,
3016,Absent radius-anogenital anomalies syndrome,Malformation syndrome,Disorder,,0010718,Q87.8,312190,C4749807,C535281,,4633
263410,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,Disease,Disorder,,0016981,E88.8,607483,C5190692,,,
3010,Qazi-Markouizos syndrome,Disease,Disorder,,0010816,Q87.8,600096,C2931142,C536259,,371
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
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
263413,Angiosarcoma,Disease,Disorder,2B56,0016982,C49.9,,C0018923,,10002476,
3003,Pyknoachondrogenesis,Malformation syndrome,Disorder,FB82.Y,0009942,Q78.8,265880,C1849523,C536251,,4610
263335,Moderately-differentiated thymic neuroendocrine carcinoma,Histopathological subtype,Subtype of disorder,2C27.1,0016977,C37,,C5680730,,,
263339,Poorly differentiated thymic neuroendocrine carcinoma,Histopathological subtype,Subtype of disorder,2C27.1,0016978,C37,,C4305466,,,
3005,Pyle disease,Disease,Disorder,LD24.1Y,0009943,Q78.5,265900,C0265294,C536252,10066147,4612
263347,MRCS syndrome,Disease,Disorder,9E1Y,0016979,H35.5,619082,C4749856,,,
263352,Postcardiotomy right ventricular failure,Particular clinical situation in a disease or syndrome,Disorder,,,I97.8,,C5680731,,,20898
3004,Mirror polydactyly-vertebral segmentation-limbs defects syndrome,Malformation syndrome,Disorder,LD26.2,0017583,Q87.2,,C4275100,,,
263310,Thymoma type A,Histopathological subtype,Subtype of disorder,2C27.2,0002588,D15.0,,C1266091,,,
2997,Ptosis-vocal cord paralysis syndrome,Malformation syndrome,Disorder,CA0H.0,0008665,J38.0,193240,C1860403,C536923,,427
263317,Thymoma type B,Histopathological subtype,Subtype of disorder,2C27.2,0016974,D15.0,,C1328042,,,
263324,Thymoma type AB,Histopathological subtype,Subtype of disorder,2C27.2,0016975,D15.0,,C1266092,,,
2999,Ptosis-strabismus-ectopic pupils syndrome,Malformation syndrome,Disorder,LA10.Y,0008341,Q10.0,178330,C4511968,,,4577
263331,Well-differentiated thymic neuroendocrine carcinoma,Histopathological subtype,Subtype of disorder,2C27.1,0016976,C37,,C4305465,,,
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
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,,,
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
2985,Pseudoprogeria syndrome,Malformation syndrome,Disorder,,0008694,Q87.8,200130,C0796125,C563111,,415
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
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,,
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
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
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
3144,Schneckenbecken dysplasia,Malformation syndrome,Disorder,LD24.3,0010013,Q77.7,269250,C0432194,C536637,,169
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
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
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
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
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
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
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
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
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
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
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
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,,,
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,
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
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
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
3098,"Rhizomelic syndrome, Urbach type",Malformation syndrome,Disorder,LD24.A,0009996,Q87.1,268250,C4749613,C537611,,4705
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
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
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,,
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
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
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
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
268861,Primary tethered cord syndrome,Morphological anomaly,Disorder,LA07.0,0017086,Q06.8,,C4708602,,,4018
2885,Piebald trait-neurologic defects syndrome,Malformation syndrome,Disorder,,0008245,E70.3,172850,C1868311,C536955,,5133
268838,OBSOLETE: Leptomyelolipoma,Morphological anomaly,Disorder,,,,,,,,
2884,Piebaldism,Disease,Disorder,EC23.2Y,0008244,E70.3,172800,C0080024,D016116,10084262,4344
2881,Cutaneous photosensitivity-lethal colitis syndrome,Disease,Disorder,DB33.Y,0009051,L57.8,219095,C4303808,C536224,,1633
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
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
2892,Pilodental dysplasia-refractive errors syndrome,Malformation syndrome,Disorder,LD27.0Y,0009873,Q82.4,262020,C1849805,C535763,,277
2891,Pili torti-developmental delay-neurological abnormalities syndrome,Malformation syndrome,Disorder,,0009871,Q84.1,261990,C4274783,C537398,,4362
268871,OBSOLETE: Primary syringomyelia/hydromyelia,Morphological anomaly,Disorder,,,,,,,,
2889,Pili torti,Disease,Disorder,EC21.0,0009870,Q84.1,261900,C0263491,C562485,,4361
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
268865,Neurenteric cyst,Morphological anomaly,Disorder,LA07.Y,0017087,Q06.8,,C0027806,,,
2888,Pierre Robin syndrome-faciodigital anomaly syndrome,Malformation syndrome,Disorder,,0010710,Q87.8,311895,C2931064,C564078,,1274
268868,Isolated amyelia,Morphological anomaly,Disorder,LA07.2,0017088,Q06.0,,C0266510,,,
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
2866,Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,Malformation syndrome,Disorder,LD2H.Y,0017316,Q87.1,,C4274785,,,4841
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
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,
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
268823,Occipital encephalocele,Clinical subtype,Subtype of disorder,LA01,0017080,Q01.2,,C0014067,,,
2876,PHAVER syndrome,Malformation syndrome,Disorder,,0009859,Q87.8,261575,C1849928,C538357,,4465
268820,Cranial meningocele,Morphological anomaly,Disorder,LA01,0017079,Q01.0,,C0009694,,,
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
268813,Myelocystocele,Clinical group,Group of disorders,LA02.02,0017077,Q05.9,,C4551677,,,
268810,Isolated posterior meningocele,Morphological anomaly,Disorder,LA02.0Y,17076,Q05.2,,C5680741,,,
2871,Pfeiffer-Palm-Teller syndrome,Malformation syndrome,Disorder,,0009858,Q87.1,261560,C1849929,C537889,,4305
2872,"Cardiocranial syndrome, Pfeiffer type",Malformation syndrome,Disorder,LD2F.1Y,0009036,Q87.8,218450,C1857495,C535578,,8586
2867,"Short stature, Brussels type",Malformation syndrome,Disorder,LD24.2Y,0011046,Q87.1,601350,C1832439,C537121,,4838
2868,Short stature-valvular heart disease-characteristic facies syndrome,Malformation syndrome,Disorder,,0007461,Q87.1,126190,C4274784,,,
2846,Congenital pericardium anomaly,Category,Group of disorders,LA8D,0017300,,,C0685699,,,
2842,Penoscrotal transposition,Morphological anomaly,Disorder,LB5Y,0017285,Q55.8,,C1868854,C536650,10067287,4273
2848,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,Disease,Disorder,FA5Y,0008828,M12.8,208250,C1859690,C537560,10083494,306
2847,Pericardial and diaphragmatic defect,Malformation syndrome,Disorder,,0017301,Q79.1,,C4510305,,,
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
268322,Hereditary thrombocytopenia with normal platelets,Disease,Disorder,3B64.01,0017057,D69.4,612004,C5190888,,,
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
2839,Pelvis-shoulder dysplasia,Malformation syndrome,Disorder,,0008217,Q87.5,169550,C1868508,C566811,,
268337,Autosomal recessive intermediate Charcot-Marie-Tooth disease,Clinical group,Group of disorders,,0017058,,,C5679732,,,12452
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
2854,Fuhrmann syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009232,Q74.8,228930,C1856728,C538189,,2410
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
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,,,
268366,Closed iniencephaly,Clinical subtype,Subtype of disorder,LA00.1,0017061,Q00.2,,C0431286,,,
2850,Alopecia-intellectual disability syndrome,Disease,Disorder,,0008756,Q87.8,613930,C2931280,C536660,,612
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,,,
268377,OBSOLETE: Total spina bifida aperta,Clinical subtype,Subtype of disorder,,,,,,,,
268114,RAS-associated autoimmune leukoproliferative disease,Disease,Disorder,,0013767,D72.8,614470,C2674723,,,
2825,PARC syndrome,Malformation syndrome,Disorder,,0010867,Q87.8,600331,C1838256,C537174,,4223
2826,Spastic paraplegia-precocious puberty syndrome,Disease,Disorder,,0008443,G11.4,182820,C4518543,C536874,,4918
268139,Intraocular medulloepithelioma,Disease,Disorder,,0017050,D31.4,,C1883694,,,
268129,Spheroid body myopathy,Disease,Disorder,8C72.0Y,,G71.8,609200,C1866785,C000598645,,8711
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
2820,Spastic paraplegia-nephritis-deafness syndrome,Clinical syndrome,Disorder,LD2H.Y,0008440,G11.4,182690,C2931667,C537937,,2342
2821,Spastic paraplegia-neuropathy-poikiloderma syndrome,Disease,Disorder,,0008442,G11.4,182815,C4706448,C536870,,4921
2822,Autosomal recessive spastic paraplegia type 11,Disease,Disorder,8B44.01,0011445,G11.4,604360,C2931821,C538335,,4919
2835,Pectus excavatum-macrocephaly-dysplastic nails syndrome,Malformation syndrome,Disorder,,0010883,Q87.5,600399,C2931302,C536728,,374
268261,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,Etiological subtype,Subtype of disorder,LD44.M,0017056,Q93.5,614104,C5191008,,,
2836,PEHO syndrome,Disease,Disorder,LD90.Y,0009841,G31.8,260565,C1850055,C536317,10086607,4264
268249,Mycophenolate mofetil embryopathy,Malformation syndrome,Disorder,LD2F.0Y,0017055,Q86.8,,C4509879,,,
268316,Complication in hemodialysis,Particular clinical situation in a disease or syndrome,Disorder,PK81.6,,Y84.1,,C0274417,,10070476,
268162,Intermediate maple syrup urine disease,Clinical subtype,Subtype of disorder,5C50.D0,0017052,E71.0,620699,C1621920,,,
2832,Short tarsus-absence of lower eyelashes syndrome,Malformation syndrome,Disorder,,0010855,Q87.2,600269,C1838328,C537036,,296
268145,Classic maple syrup urine disease,Clinical subtype,Subtype of disorder,5C50.D0,0017051,E71.0,248600,C0268568,,,
268184,Thiamine-responsive maple syrup urine disease,Clinical subtype,Subtype of disorder,5C50.D0,0017054,E71.0,248600,C0751285,,,
2833,Stiff skin syndrome,Disease,Disorder,EE6Y,0008492,L98.8,228020,C1861456,C566112,10085085,5025
2834,Wrinkly skin syndrome,Clinical subtype,Subtype of disorder,LD2B,0010208,Q82.8,278250,C0406587,C536750,,273
268173,Intermittent maple syrup urine disease,Clinical subtype,Subtype of disorder,5C50.D0,0017053,E71.0,248600,C0268569,,,
2969,Proteus-like syndrome,Clinical subtype,Subtype of disorder,LD2C,0017571,Q87.3,158350,C1866398,,,12801
2964,Autosomal dominant prognathism,Malformation syndrome,Disorder,DA0E.1,0008312,K07.1,176700,C4755315,,,10319
2962,De Barsy syndrome,Disease,Disorder,LD28.2,0017569,Q87.8,614438,C0268354,C535990,10083947,49
2973,"46,XX difference of sex development-anorectal anomalies syndrome",Malformation syndrome,Disorder,LD2F.1Y,0017573,Q56.2,,C4518078,,,
2972,Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,Malformation syndrome,Disorder,,0010104,K07.0,273050,C2931509,C537496,,
750,Pseudoachondroplasia,Disease,Disorder,LD24.60,0008322,Q77.8,177170,C0410538,C535819,,4540
2976,"Pseudoleprechaunism syndrome, Patterson type",Malformation syndrome,Disorder,LD90,0008211,E34.8,169170,C1868546,C536310,,4259
2975,"46,XX difference of sex development-skeletal anomalies syndrome",Malformation syndrome,Disorder,,0009915,Q56.2,264270,C4518077,,,
2980,Acrootoocular syndrome,Malformation syndrome,Disorder,,0009920,Q87.0,264475,C1849661,C564866,,4559
2978,Chronic intestinal pseudoobstruction syndrome,Clinical syndrome,Disorder,DA90.2,0017574,K59.8,609629,C0238062,,,12744
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
1848,"Renal agenesis, bilateral",Clinical subtype,Subtype of disorder,LB30.00,0015986,Q60.1,615721,C1609433,C536482,,
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,,,
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
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,,,
2956,Acrodysplasia scoliosis,Malformation syndrome,Disorder,,0017568,Q87.5,,C2931761,C538180,,491
2952,"Adducted thumbs-arthrogryposis syndrome, Christian type",Malformation syndrome,Disorder,,0008724,Q74.8,201550,C4304055,,,10277
740,Hutchinson-Gilford progeria syndrome,Disease,Disorder,LD2B,0008310,E34.8,176670,C0033300,D011371,10036794,7467
2959,Progeria-short stature-pigmented nevi syndrome,Malformation syndrome,Disorder,LD2B,0008311,Q87.1,176690,C1261128,C536422,,4494
2957,Guttmacher syndrome,Malformation syndrome,Disorder,LD26.2,0008301,Q87.2,176305,C1867801,C538278,,4470
2958,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,Malformation syndrome,Disorder,LD90,0010667,Q87.8,309610,C4304934,,,4482
2924,Isolated polycystic liver disease,Malformation syndrome,Disorder,DB99.10,,Q44.6,617875,C4255088,C536330,10048834,9457
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
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
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
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
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
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
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
2896,Pitt-Hopkins syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012589,Q87.0,610954,C1970431,C537403,,4372
2899,Brachyolmia-amelogenesis imperfecta syndrome,Malformation syndrome,Disorder,LD24.5Y,0011018,Q76.3,601216,C1832594,C536538,,5478
2900,Leri pleonosteosis,Malformation syndrome,Disorder,,0007894,Q68.8,151200,C1835450,C537118,,88
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
264450,Trisomy 8p syndrome,Malformation syndrome,Disorder,,0017013,Q92.2,,C0795825,C538019,,
2907,Hereditary acrokeratotic poikiloderma,Disease,Disorder,LD2B,0017365,Q82.8,,C0406556,,,
2911,Poland syndrome,Malformation syndrome,Disorder,LB73.10,0008262,Q79.8,173800,C0032357,D011045,10036007,7412
264580,Glycogen storage disease due to liver phosphorylase kinase deficiency,Disease,Disorder,5C51.3,0020693,E74.0,613027,C3694529,,,
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,,,
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
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
264675,Hereditary pulmonary alveolar proteinosis,Disease,Disorder,CB04.31,0012580,J84.0,300770,C2931035,C535832,,4582
2920,Oliver syndrome,Malformation syndrome,Disorder,LD26.2,0009777,Q87.2,258200,C1850320,C564931,,4069
264691,Isolated pulmonary capillaritis,Disease,Disorder,CB04.4,0017018,J84.8,,C3873357,,,
2921,Preaxial polydactyly-colobomata-intellectual disability syndrome,Malformation syndrome,Disorder,,0017377,Q87.2,,C2931655,C537888,,4304
264688,Congenital chylothorax,Disease,Disorder,CB04.1,0011331,I89.8,603523,C0340014,C535461,10078770,10156
3374,Unilateral ocular duplication,Morphological anomaly,Disorder,LA10.Y,0031322,Q15.8,,C5816687,,,5286
275803,Pulmonary arterial hypertension associated with congenital heart disease,Clinical group,Group of disorders,,,,,C3697119,,,
275808,Pulmonary arterial hypertension associated with HIV infection,Clinical group,Group of disorders,,,,,C3697673,,,
275813,Pulmonary arterial hypertension associated with portal hypertension,Clinical group,Group of disorders,,,,,C1868851,,10067281,
1717,Distal duplication 19q syndrome,Malformation syndrome,Disorder,LD41.J0,0015744,Q92.3,,C4707664,,,
3377,Trismus-pseudocamptodactyly syndrome,Malformation syndrome,Disorder,LD26.4Y,0008016,Q68.8,158300,C0265226,C535857,,2621
275823,Pulmonary arterial hypertension associated with schistosomiasis,Clinical group,Group of disorders,,,,,C3697477,,,
3368,Trigonocephaly-bifid nose-acral anomalies syndrome,Malformation syndrome,Disorder,,0010154,Q87.0,275595,C4304969,,,5126
275777,Heritable pulmonary arterial hypertension,Etiological subtype,Subtype of disorder,BB01.0,0017148,I27.0,178600,C0340543,,10085244,
275786,Drug- or toxin-induced pulmonary arterial hypertension,Clinical group,Group of disorders,,0017149,,,C0340544,,,
275791,Pulmonary arterial hypertension associated with another disease,Category,Group of disorders,,,,,C5679756,,,
3369,Trigonocephaly-short stature-developmental delay syndrome,Malformation syndrome,Disorder,,0010749,Q87.0,314320,C1839125,C536620,,243
275798,Pulmonary arterial hypertension associated with connective tissue disease,Clinical group,Group of disorders,,,,,C3697982,,,
3363,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,Malformation syndrome,Disorder,LD27.0Y,0010152,Q87.1,275400,C1848745,C536554,,5266
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
3366,Non-syndromic metopic craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0018065,Q75.0,614485,C0265535,,,
3365,Trigonocephaly-broad thumbs syndrome,Malformation syndrome,Disorder,,0018064,Q87.0,,C4304968,,,
275766,Idiopathic pulmonary arterial hypertension,Etiological subtype,Subtype of disorder,BB01.0,0017147,I27.0,,C3203102,,10065151,
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
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
276148,Benign epithelial tumor of salivary glands,Disease,Disorder,2E91,0017168,D11.7,181030,C5190858,,,
3409,Urban-Rogers-Meyer syndrome,Malformation syndrome,Disorder,,0009905,Q87.8,264010,C0796189,C538276,,5426
276145,Malignant epithelial tumor of salivary glands,Disease,Disorder,2B67.Y,0017167,C08.8,,C5190832,,,
276161,Multiple endocrine neoplasia,Clinical group,Group of disorders,2F7A.Y,0017169,D44.8,,C0027662,D009377,10028196,
3412,VACTERL with hydrocephalus,Malformation syndrome,Disorder,LD2F.1Y,0010172,Q87.8,314390,C4305002,,,272
276152,Multiple endocrine neoplasia type 4,Disease,Disorder,2F7A.0,0012552,D44.8,610755,C1970712,C567059,,
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,
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
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,,,
275872,Frontotemporal dementia with motor neuron disease,Disease,Disorder,6D83,0017161,G31.0,616439,C3888102,C566288,,
3383,Humerus trochlea aplasia,Malformation syndrome,Disorder,,0008611,Q74.0,191000,C1860773,C566022,,2750
3384,Common arterial trunk,Morphological anomaly,Disorder,LA85.4,0018072,Q20.0,217095,C0041207,D014339,10044703,
275864,Behavioral variant of frontotemporal dementia,Disease,Disorder,6D83,0017160,G31.0,600274,C4011788,,,7392
275944,Hemolytic disease of the newborn with Kell alloimmunization,Disease,Disorder,KA84.1,0017164,P55.8,,C0472751,,,
3387,Isolated anterior cervical hypertrichosis,Disease,Disorder,,0010887,L68.2,600457,C1838123,C538390,,8438
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
275828,Pulmonary arterial hypertension associated with chronic hemolytic anemia,Clinical group,Group of disorders,,,,,C3698315,,,
1724,Mosaic trisomy 20 syndrome,Malformation syndrome,Disorder,LD40.Y,0015764,Q92.1,,C0265479,C535372,,
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
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
3328,Absent tibia-polydactyly-arachnoid cyst syndrome,Malformation syndrome,Disorder,,0010981,Q87.5,601027,C4518567,C536918,,5210
3327,Thyrocerebrorenal syndrome,Malformation syndrome,Disorder,GB90.Y,0010128,N15.8,274240,C4518579,,,1646
3326,Thymic-renal-anal-lung dysplasia,Malformation syndrome,Disorder,,0010129,Q87.8,274265,C1848812,C536907,,5202
3323,Braddock-Carey syndrome,Malformation syndrome,Disorder,,,,,,,,
3322,Hoyeraal-Hreidarsson syndrome,Disease,Disorder,3A70.0,0018045,Q82.8,616553,C1846142,C536068,,346
3317,Thoracolaryngopelvic dysplasia,Malformation syndrome,Disorder,LD24.BY,0008551,Q77.2,187770,C1861197,C536517,,
3316,Thomas syndrome,Malformation syndrome,Disorder,8A00.1Y,0018043,Q87.8,,C2931225,C536514,,5175
3314,"Thiemann disease, familial form",Disease,Disorder,FB82.1,0008142,M93.2,165700,C0264081,C537144,,4131
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
275555,Preeclampsia,Disease,Disorder,JA24,0005081,O14.1,614595,C0032914,D011225,10036485,
275543,L1 syndrome,Malformation syndrome,Disorder,LD90.Y,0017140,Q04.8,307000,C5779710,,,12524
3353,Trichodermodysplasia-dental alterations syndrome,Malformation syndrome,Disorder,LD27.0Y,0018061,Q82.4,,C2931485,C537402,,4369
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
3351,Trichodental syndrome,Malformation syndrome,Disorder,LD27.0Y,0011083,Q82.4,601453,C0406724,C536551,,265
275517,Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency,Disease,Disorder,4A01.22,0011804,D47.9,607271,C1846545,,,9796
3352,Tricho-dento-osseous syndrome,Malformation syndrome,Disorder,LD27.0Y,0008592,Q82.4,190320,C0265333,C536549,,7799
3349,Treft-Sanborn-Carey syndrome,Disease,Disorder,,,,,C2931235,C536544,,
3350,Tremor-nystagmus-duodenal ulcer syndrome,Disease,Disorder,,0008591,G25.0,190310,C1860860,C536406,,
3344,Weismann-Netter syndrome,Malformation syndrome,Disorder,LD24.C,0007209,Q77.8,112350,C1862172,C537082,,5232
3347,Mounier-Kühn syndrome,Clinical syndrome,Disorder,CA27.1,0010148,J98.0,275300,C0040587,D014137,10044316,3793
3341,Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,Malformation syndrome,Disorder,,0010748,Q87.8,314300,C4749808,C536970,,5230
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
3339,Oculoectodermal syndrome,Malformation syndrome,Disorder,LD27.0Y,0010854,Q82.4,600268,C1838329,C563969,,10366
271861,Hereditary ATTR amyloidosis,Disease,Disorder,5D00.20,7100,E85.1,105210,C5679761,,,
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
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
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
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
3319,Congenital amegakaryocytic thrombocytopenia,Disease,Disorder,3B64.01,0011469,D61.0,604498,C1327915,C535982,,640
3473,Zimmermann-Laband syndrome,Malformation syndrome,Disorder,LD2F.1Y,0000200,Q87.8,618729,C0796013,C536725,10081859,385
3459,Wilson-Turner syndrome,Malformation syndrome,Disorder,LD29,0010665,Q87.8,309585,C1839736,C536708,,5579
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
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
269560,Genetic cerebellar malformation,Category,Group of disorders,,,,,C5680769,,,
3465,Worster-Drought syndrome,Disease,Disorder,8D23,0008503,G80.8,185480,C0796204,C536747,,5598
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
2995,Baraitser-Winter cerebrofrontofacial syndrome,Malformation syndrome,Disorder,,0017579,Q87.0,614583,C5680770,,,5279
3013,Radiculomegaly of canine teeth- congenital cataract,Malformation syndrome,Disorder,,,,,,,,
3200,Arthrogryposis-ectodermal dysplasia syndrome,Malformation syndrome,Disorder,,0044406,Q68.8,601701,C5191837,,,5029
1570,Symbrachydactyly of hands and feet,Malformation syndrome,Disorder,LB75.2,0015516,Q73.8,,C2931719,C538062,,1680
3243,Sweet syndrome,Disease,Disorder,EB20,0011959,L98.2,608068,C0085077,D016463,10000748,521
1827,Acromelic frontonasal dysplasia,Malformation syndrome,Disorder,LD25.3,0011359,Q75.8,603671,C0796182,C535657,,5539
2352,Kozlowski-Brown-Hardwick syndrome,Disease,Disorder,,,,,C2931511,C537506,,
2076,X-linked intellectual disability-epilepsy syndrome,Clinical group,Group of disorders,,0016160,,300607,C5680771,,,
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
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,,,
269008,Isolated focal cortical dysplasia type IIb,Histopathological subtype,Subtype of disorder,LA05.51,0017102,Q04.8,607341,C5679768,,,
3433,Microcephaly-brachydactyly-kyphoscoliosis syndrome,Malformation syndrome,Disorder,,0018091,Q87.8,,C2931177,C536349,,5490
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
269001,Isolated focal cortical dysplasia type IIa,Histopathological subtype,Subtype of disorder,LA05.51,0017101,Q04.8,607341,C5679770,,,
2460,Van den Ende-Gupta syndrome,Malformation syndrome,Disorder,LD26.41,0010959,Q87.0,600920,C1833136,C535909,,3382
268940,Bilateral polymicrogyria,Morphological anomaly,Disorder,LA05.50,0017091,Q04.3,616531,C4707565,,,
268943,Unilateral polymicrogyria,Morphological anomaly,Disorder,LA05.50,0017092,Q04.3,,C4024960,,,
3416,Hyperostosis corticalis generalisata,Malformation syndrome,Disorder,LD24.1Y,0009395,M85.2,144750,C0432272,,,2833
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,,,
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,,,
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
3453,Autoimmune polyendocrinopathy type 1,Disease,Disorder,5B00,0009411,E31.0,240300,C0085859,C538275,10036072,8466
269224,Global cerebellar malformation,Category,Group of disorders,,,,,C5679773,,,
3448,Weaver-Williams syndrome,Malformation syndrome,Disorder,,0018095,Q87.8,,C0796198,,,5545
269221,Isolated bilateral hemispheric cerebellar hypoplasia,Morphological anomaly,Disorder,LA06.1,0017113,Q04.3,,C4749791,,,
3449,Weill-Marchesani syndrome,Malformation syndrome,Disorder,9C61.42,0018096,Q87.0,613195,C0265313,D056846,10064963,4936
269218,Isolated unilateral hemispheric cerebellar hypoplasia,Morphological anomaly,Disorder,LA06.1,0017112,Q04.3,,C4707885,,,
3456,Wildervanck syndrome,Malformation syndrome,Disorder,,0010759,Q87.8,314600,C0265239,,10069402,5569
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,,,
3454,Wieacker-Wolff syndrome,Malformation syndrome,Disorder,,0010758,Q87.8,301041,C0796200,C536703,,7890
3455,Wiedemann-Rautenstrauch syndrome,Malformation syndrome,Disorder,LD2B,0009910,E34.8,264090,C0406586,C536423,,330
269505,Congenital communicating hydrocephalus,Clinical subtype,Subtype of disorder,,0017116,Q03.8,615219,C5679774,,,
269203,Isolated cerebellar vermis agenesis,Morphological anomaly,Disorder,,0017107,Q04.3,,C5680776,,,
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,,,
3434,MMEP syndrome,Malformation syndrome,Disorder,LD21.0,0011045,Q87.8,601349,C1832440,C537686,,3693
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,,,
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
280315,Autoimmune pancreatitis type 2,Disease,Disorder,DC33,0017228,K86.1,,C5197785,,,
3181,Sprengel deformity,Morphological anomaly,Disorder,LB72.1,0008482,Q74.0,184400,C0152438,C535802,10010455,7693
280302,Autoimmune pancreatitis type 1,Clinical subtype,Subtype of disorder,DC33,0017227,K86.1,,C4302243,,,
280333,Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,Disease,Disorder,,0013440,G71.0,613818,C4511963,,,
280325,Distal deletion 12p syndrome,Malformation syndrome,Disorder,,0017229,Q93.5,,C4749581,,,
280293,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,Clinical subtype,Subtype of disorder,LD90.2,0009843,E75.2,260600,C5396702,,,4266
280288,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,Clinical subtype,Subtype of disorder,LD90.2,0012824,E75.2,612233,C2677109,C567390,,
280369,Rare pediatric vasculitis,Category,Group of disorders,,,,,C5680782,,,
3194,Corneodermatoosseous syndrome,Malformation syndrome,Disorder,LD27.0Y,0007383,H18.5,122440,C1852542,C536444,,1531
3195,Sternal malformation-vascular dysplasia syndrome,Malformation syndrome,Disorder,,,,,,,,
280365,Autosomal semi-dominant severe lipodystrophic laminopathy,Disease,Disorder,5A44,0017230,E88.1,,C5680783,,,
280379,Erythropoietic uroporphyria associated with myeloid malignancy,Disease,Disorder,,0017231,E80.2,,C5191004,,,10948
3197,Hereditary hyperekplexia,Disease,Disorder,LD90.Y,0021022,G25.8,614619,C1835614,C538136,,3129
3199,Stimmler syndrome,Malformation syndrome,Disorder,,0008743,Q87.1,202900,C1859965,C565968,,5026
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
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
3191,Subaortic stenosis-short stature syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010082,Q87.1,271960,C0795947,C537749,,405
3193,Supravalvular aortic stenosis,Morphological anomaly,Disorder,LA8A.3,0008504,Q25.3,185500,C0003499,D021921,10042598,743
280356,PLIN1-related familial partial lipodystrophy,Disease,Disorder,5A44,0013478,E88.1,613877,C5191005,,,
3214,"Deaf blind hypopigmentation syndrome, Yemenite type",Malformation syndrome,Disorder,LD2H.Y,0011133,Q13.8,601706,C1866425,C536771,,5535
280400,Inherited human prion disease,Category,Group of disorders,,,,,C5679775,,,
280403,Familial omphalocele syndrome with facial dysmorphism,Malformation syndrome,Disorder,,0017235,Q79.2,,C4749579,,,
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,,,
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
280384,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,Disease,Disorder,,0017232,Q68.8,,C4749580,,,
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,,,
280576,Nestor-Guillermo progeria syndrome,Malformation syndrome,Disorder,LD2B,0013523,E34.8,614008,C3151446,,,11008
3220,Deafness-enamel hypoplasia-nail defects syndrome,Malformation syndrome,Disorder,LD27.0Y,0100229,Q82.4,616617,C1856186,C535994,,1687
3219,Fountain syndrome,Malformation syndrome,Disorder,LD2H.Y,0009241,Q87.8,229120,C0795944,C537270,10083946,64
3222,Phosphoribosylpyrophosphate synthetase superactivity,Disease,Disorder,5C55.0Y,0010395,E79.8,300661,C1970827,C567064,,4337
280586,"Chondrodysplasia with joint dislocations, gPAPP type",Malformation syndrome,Disorder,LD24.E,0013561,M85.0,614078,C3279757,,,11009
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
280553,Fatal infantile hypertonic myofibrillar myopathy,Disease,Disorder,8C76,0013472,G71.2,613869,C5190691,,,
280558,Warsaw breakage syndrome,Malformation syndrome,Disorder,LD2F.1Y,0013252,Q87.8,613398,C3150658,,,13708
3216,Conductive deafness-malformed external ear syndrome,Malformation syndrome,Disorder,,0009083,Q17.8,221300,C2931454,C537239,,1460
3218,Deafness-epiphyseal dysplasia-short stature syndrome,Malformation syndrome,Disorder,LD2H.Y,0011047,Q87.5,601351,C1832438,C535928,,1688
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
280062,Calciphylaxis,Disease,Disorder,EB90.42,0017215,E83.5,,C0006666,D002115,10051714,5980
279947,Postorgasmic illness syndrome,Clinical syndrome,Disorder,HA02.Y,0017213,F52.3,,C4749582,,,10809
3153,NON RARE IN EUROPE: Adolescent idiopathic scoliosis,Disease,Disorder,,,,,,,,
279943,Hereditary neutrophilia,Disease,Disorder,,0008092,D72.8,162830,C0543669,C563010,,
279934,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency",Disease,Disorder,,0009636,E88.8,251880,C5191055,,,13644
3152,Sclerosteosis,Malformation syndrome,Disorder,LD24.1Y,0017838,M85.2,614305,C0265301,C537525,,4771
279928,Paraneoplastic uveitis,Disease,Disorder,9B65.0,0017212,H57.8,,C5680786,,,
279925,Infectious panuveitis,Disease,Disorder,9C20.1,0017211,H44.1,,C5230354,,,
279922,Infectious anterior uveitis,Disease,Disorder,9A96.2,0017210,H20.9,,C0154911,,,
280142,Combined immunodeficiency due to LCK deficiency,Disease,Disorder,4A01.10,0014334,D81.1,615758,C5191006,,,
3164,"Omphalocele syndrome, Shprintzen-Goldberg type",Malformation syndrome,Disorder,LD2F.1Y,0008425,Q79.2,182210,C1866958,C537329,,9850
3168,Sillence syndrome,Malformation syndrome,Disorder,,0007227,Q74.8,113450,C1862092,C537338,,4869
280133,Complement component 3 deficiency,Disease,Disorder,4A00.1Y,0013417,D84.1,613779,C1332655,,,
3163,SHORT syndrome,Malformation syndrome,Disorder,LD27.6Z,0010026,Q87.1,269880,C0878684,C537327,10090250,7633
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,,,
3156,Senior-Loken syndrome,Disease,Disorder,9B70,0017842,Q61.5,616629,C0403553,C537580,10084074,322
280071,ALG11-CDG,Disease,Disorder,5C54.0,0013349,E77.8,613661,C3150913,,,12396
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
3180,Spondylocamptodactyly syndrome,Malformation syndrome,Disorder,LD24.5Y,0010801,Q87.5,600000,C4274762,C535779,,4972
280210,"Pelizaeus-Merzbacher disease, connatal form",Clinical subtype,Subtype of disorder,8A44.0,0017221,E75.2,312080,C5679776,,,
280219,"Pelizaeus-Merzbacher disease, classic form",Clinical subtype,Subtype of disorder,8A44.0,0017222,E75.2,312080,C0751916,,,
280200,Microform holoprosencephaly,Malformation syndrome,Disorder,LA05.2,0017219,Q04.2,610829,C5393309,,,
3177,Spinocerebellar degeneration-corneal dystrophy syndrome,Malformation syndrome,Disorder,9A70.Y,0010063,G11.1,271310,C1849087,C535472,,1525
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,,,
280195,Septopreoptic holoprosencephaly,Clinical subtype,Subtype of disorder,LA05.2,,Q04.2,609637,C5679777,,,
3172,Eyebrow duplication-syndactyly syndrome,Malformation syndrome,Disorder,,0009200,Q87.8,227210,C4518569,,,2216
280183,Methylmalonic aciduria due to transcobalamin receptor defect,Biological anomaly,Disorder,,0013341,E71.1,613646,C4749905,,,
280282,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,Clinical subtype,Subtype of disorder,LD90.2,0012125,E75.2,608804,C1837355,C563855,,
280270,Pelizaeus-Merzbacher-like disease,Disease,Disorder,LD90.2,0017226,E75.2,612233,C4274084,,,12300
252,OBSOLETE: Spondyloepimetaphyseal dysplasia,Category,Group of disorders,,,,,,,,
280234,Null syndrome,Clinical subtype,Subtype of disorder,8A44.0,0017225,E75.2,312080,C5439441,,,
1855,Spondyloenchondrodysplasia,Malformation syndrome,Disorder,LD24.3,0011939,Q77.7,607944,C0432222,C535782,,4978
280224,"Pelizaeus-Merzbacher disease, transitional form",Clinical subtype,Subtype of disorder,8A44.0,0017223,E75.2,312080,C0751917,,,
1797,Autosomal dominant spondylocostal dysostosis,Malformation syndrome,Disorder,LD24.H,0015826,Q76.4,122600,C4274761,,,
280229,Pelizaeus-Merzbacher disease in female carriers,Clinical subtype,Subtype of disorder,8A44.0,0017224,E75.2,312080,C5438815,,,
276580,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,Disease,Disorder,,0017185,E16.1,601820,C4274081,,,
3258,Cenani-Lenz syndrome,Malformation syndrome,Disorder,LB79.Y,0008931,Q78.4,212780,C1859309,C538150,,5084
276575,Autosomal dominant hyperinsulinism due to SUR1 deficiency,Disease,Disorder,,0017184,E16.1,256450,C4274080,,,
276598,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,Disease,Disorder,5A45,0017187,E16.1,256450,C5191059,,,
3262,Dobrow syndrome,Malformation syndrome,Disorder,,0017980,Q87.8,,C5190737,,,5092
276585,Diazoxide-resistant hyperinsulinism,Clinical group,Group of disorders,,0017186,,,C5679778,,,
276608,Non-insulinoma pancreatogenous hypoglycemia syndrome,Disease,Disorder,5A4Y,0017189,E16.1,,C4274082,,,
3265,Isolated humero-radial synostosis,Morphological anomaly,Disorder,LB90.1,0007737,Q74.0,236400,C5925001,,,2748
276603,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,Disease,Disorder,5A45,0017188,E16.1,601820,C5191060,,,
3266,Isolated humero-radio-ulnar synostosis,Morphological anomaly,Disorder,LB90.0,0017983,Q74.0,,C5925002,,,2749
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,,,
3268,Radioulnar synostosis-microcephaly-scoliosis syndrome,Malformation syndrome,Disorder,,0011320,Q87.5,603438,C3150890,C566376,,394
276630,Symptomatic form of Coffin-Lowry syndrome in female carriers,Malformation syndrome,Disorder,,0017193,Q87.0,300844,C5680787,,,
3270,Radioulnar synostosis-developmental delay-hypotonia syndrome,Malformation syndrome,Disorder,,0009952,Q87.8,266255,C2931776,C538217,,1810
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
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
3289,NON RARE IN EUROPE: Taurodontism,Morphological anomaly,Disorder,,,,,,,,
3291,Teebi-Shaltout syndrome,Malformation syndrome,Disorder,,0010101,Q82.4,272950,C1848912,C536950,,5125
3293,Telecanthus-hypertelorism-strabismus-pes cavus syndrome,Malformation syndrome,Disorder,,0017997,Q87.8,,C2931549,,,
3292,Tel Hashomer camptodactyly syndrome,Malformation syndrome,Disorder,,0008901,Q74.0,211960,C1859356,C536953,,5128
279882,Spasmus nutans,Clinical syndrome,Disorder,8A04.Y,0017201,F98.4,,C1527306,,10059593,
3294,Extensor tendons of finger anomalies,Malformation syndrome,Disorder,,0008540,Q74.0,187390,C2931376,C536960,,2597
279888,Acute endophthalmitis,Clinical subtype,Subtype of disorder,9C20.2,0017202,H44.1,,C0154773,,10000730,
279891,Chronic endophthalmitis,Clinical subtype,Subtype of disorder,9C21,0017203,H44.1,,C0154774,,10008864,
279894,Toxic maculopathy due to antimalarial drugs,Disease,Disorder,9B78.3Y,0017204,T37.2,,C4706522,,,
3301,Tetraamelia-multiple malformations syndrome,Malformation syndrome,Disorder,LD2F.1Y,0010110,Q87.8,618021,C2931218,C536500,,386
279897,Primary oculocerebral lymphoma,Disease,Disorder,2B33.5,0017205,C85.7,,C5679779,,,
279904,OBSOLETE: Primary intraocular lymphoma,Disease,Disorder,2B33.5,0004351,C85.7,,C0281658,D064090,,
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
3312,Thalidomide embryopathy,Malformation syndrome,Disorder,LD2F.0Y,0018034,Q86.8,,C0432365,,10071249,2313
279914,Intermediate uveitis,Disease,Disorder,9B66,0006806,H30.2,,C0042166,D015867,10022557,
3311,OBSOLETE: Infantile symmetrical thalamic degeneration,Disease,Disorder,,,,,,,,
279919,Infectious posterior uveitis,Disease,Disorder,9B65.1,0017209,H32.0,,C5230265,,,
276198,Spinocerebellar ataxia type 36,Disease,Disorder,8A03.16,0013594,G11.8,614153,C3472711,,,
3225,Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,Malformation syndrome,Disorder,LD2H.Y,0017921,E34.8,,C4274756,,,
276193,Spinocerebellar ataxia type 35,Disease,Disorder,8A03.16,0013485,G11.8,613908,C3888031,,,
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,,,
3224,Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,Malformation syndrome,Disorder,LD2H.Y,0017920,Q87.8,,C2931654,C537887,,4303
276174,Idiopathic recurrent stupor,Disease,Disorder,8E2Y,0017170,G93.8,,C4706562,,,
276238,Machado-Joseph disease type 1,Clinical subtype,Subtype of disorder,8A03.16,0017174,G11.8,109150,C0751668,,,
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,,,
276223,"Mucopolysaccharidosis type 6, slowly progressing",Clinical subtype,Subtype of disorder,5C56.33,0017172,E76.2,253200,C5679780,,,
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,,,
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
276249,OBSOLETE: Xeroderma pigmentosum complementation group A,Clinical subtype,Subtype of disorder,,,,,,,,
3231,Deafness-onychodystrophy syndrome,Clinical group,Group of disorders,,,,220500,C4751208,,,
276244,Machado-Joseph disease type 3,Clinical subtype,Subtype of disorder,8A03.16,0017176,G11.8,109150,C0751670,,,
276241,Machado-Joseph disease type 2,Clinical subtype,Subtype of disorder,8A03.16,0017175,G11.8,109150,C0751669,,,
3235,Progressive deafness with stapes fixation,Malformation syndrome,Disorder,LD2H.2,0011080,H74.3,601449,C1832354,C563316,,5170
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
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
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
3241,Deafness-craniofacial syndrome,Malformation syndrome,Disorder,LD2H.Y,0007428,Q87.0,125230,C1852278,C565118,,1686
276280,Hemihyperplasia-multiple lipomatosis syndrome,Malformation syndrome,Disorder,,0017177,Q87.3,,C4749904,,,
276399,Familial multinodular goiter,Disease,Disorder,5A01.2,0007681,E04.2,138800,C5779622,,,
3239,Deafness-vitiligo-achalasia syndrome,Malformation syndrome,Disorder,LD2H.Y,0009085,Q87.8,221350,C4518568,,,1705
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
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,,,
3246,Symphalangism with multiple anomalies of hands and feet,Malformation syndrome,Disorder,,0008510,Q74.8,185750,C1861391,C566098,,5077
276413,10q22.3q23.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.A0,0012830,Q93.5,612242,C4749270,,,
276402,OBSOLETE: Limbic encephalitis with caspr2 antibodies,Disease,Disorder,,,,,,,,
3242,Renpenning syndrome,Malformation syndrome,Disorder,LD90.Y,0010653,Q87.5,309500,C0796135,,,9509
276405,Hyperbiliverdinemia,Disease,Disorder,5C90.1,0013595,K76.8,614156,C3279964,,,
3250,Proximal symphalangism,Malformation syndrome,Disorder,LB90.Y,0008511,Q70.9,615298,C1861385,C536223,,8182
3248,Isolated distal symphalangism,Morphological anomaly,Disorder,LB90.Y,0008509,Q70.9,185700,C5925003,,,5074
276422,10q22.3q23.3 microduplication syndrome,Malformation syndrome,Disorder,LD41.90,0017180,Q92.3,,C5190512,,,
276429,Hypnic headache,Disease,Disorder,8A83,0017181,G44.8,,C0752150,,10088606,10796
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
276556,Hyperinsulinism due to UCP2 deficiency,Disease,Disorder,,0017183,E16.1,,C4303082,,,
276432,Ogden syndrome,Malformation syndrome,Disorder,,0010457,E34.8,300855,C3275447,,10082376,
3253,Cleft lip/palate-ectodermal dysplasia syndrome,Malformation syndrome,Disorder,LD27.0Y,0009151,Q82.4,225060,C2931488,C536726,,375
276435,Lower motor neuron syndrome with late-adult onset,Disease,Disorder,8B60.Y,0014025,G12.1,615048,C5191007,,,
911,Combined immunodeficiency due to ZAP70 deficiency,Disease,Disorder,4A01.1Y,0010023,D81.8,269840,C2931299,C536722,,387
3325,Classic heparin-induced thrombocytopenia,Disease,Disorder,3B64.12,0018048,D69.5,,C0272285,,10062506,2650
746,Mitochondrial trifunctional protein deficiency,Disease,Disorder,5C52.01,0012172,G71.3,609015,C1969443,C566945,10077949,3684
943,Malonic aciduria,Disease,Disorder,5C50.E1,0009556,E72.8,248360,C0342793,C535702,,3371
621,Autosomal recessive methemoglobinemia,Disease,Disorder,,0018963,D74.0,250800,C0272087,C580280,10010543,2659
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
412,Dysbetalipoproteinemia,Disease,Disorder,5C80.2,0018473,E78.2,617347,C0020479,D006952,10060751,6703
743,Severe hereditary thrombophilia due to congenital protein S deficiency,Disease,Disorder,3B61.0Y,0019144,D68.5,614514,C2584611,,,
424,Familial hyperthyroidism due to mutations in TSH receptor,Disease,Disorder,5A02.Y,0012203,E05.8,609152,C4274306,,,2858
325,Congenital factor II deficiency,Disease,Disorder,3B14.Z,0013361,D68.2,613679,C0272317,,10016076,2926
343,Hyperimmunoglobulinemia D with periodic fever,Clinical subtype,Subtype of disorder,4A60.Y,0009849,E85.0,260920,C0398691,,10072010,2788
572,Immunodeficiency by defective expression of MHC class II,Disease,Disorder,4A01.12,0008855,D81.7,209920,C2931418,C537079,,824
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
158,Systemic primary carnitine deficiency,Disease,Disorder,5C52.00,0008919,E71.3,212140,C0342788,C536778,,5104
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,
206436,Infantile Krabbe disease,Clinical subtype,Subtype of disorder,8A44.4,0016089,E75.2,245200,C0751273,,,
820,Sneddon syndrome,Disease,Disorder,4A44.6,0008436,I77.8,182410,C0282492,D018860,10053841,7664
206428,Hypoxanthine-guanine phosphoribosyltransferase deficiency,Clinical group,Group of disorders,,0016088,,,C5848153,,10075774,2943
1945,Self-limited epilepsy with centrotemporal spikes,Disease,Disorder,8A61.20,0007295,G40.0,245570,C0376532,D019305,10070530,10287
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
6,3-methylcrotonyl-CoA carboxylase deficiency,Disease,Disorder,5C50.E0,0018950,E71.1,210210,C4551505,C535308,,10954
20,3-hydroxy-3-methylglutaric aciduria,Disease,Disorder,5C50.E0,0009520,E71.1,246450,C0268601,C538324,,8387
714,Hemolytic anemia due to diphosphoglycerate mutase deficiency,Disease,Disorder,3A10.Y,0009113,D55.2,222800,C0272069,,,1874
712,Hemolytic anemia due to glucophosphate isomerase deficiency,Disease,Disorder,3A10.Y,0013275,D55.2,613470,C0272064,,,
2831,"Rhizomelic dysplasia, Patterson-Lowry type",Malformation syndrome,Disorder,LD24.A,0011079,Q78.8,601438,C1832359,C537609,,4703
1129,Arachnodactyly-abnormal ossification-intellectual disability syndrome,Malformation syndrome,Disorder,,0015234,Q87.8,,C2931398,C537024,,381
206546,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,Disease,Disorder,8C70.1,0016097,G71.0,,C4707359,,,
1383,Cataract-deafness-hypogonadism syndrome,Malformation syndrome,Disorder,LD2H.Y,0015325,Q87.8,,C2931269,C536626,,248
206538,Malignant non-dysgerminomatous germ cell tumor of ovary,Disease,Disorder,2C73.Y,0016096,C56,,C5679783,,,
206554,Fukutin-related limb-girdle muscular dystrophy R13,Disease,Disorder,8C70.41,0012699,G71.0,611588,C1969040,C566912,,
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
206549,Anoctamin-5-related limb-girdle muscular dystrophy R12,Disease,Disorder,,0012652,G71.0,611307,C1969785,C566968,,
1123,Caudal appendage-deafness syndrome,Malformation syndrome,Disorder,LD2H.Y,0015233,Q87.8,,C2931593,C537713,,1163
206564,POMGNT1-related limb-girdle muscular dystrophy R15,Disease,Disorder,,0013161,G71.0,613157,C3150417,,,
206559,POMT2-related limb-girdle muscular dystrophy R14,Disease,Disorder,,0013162,G71.0,613158,C3150418,,,
206572,Overlap myositis,Disease,Disorder,,0016099,M33.2,,C5679784,,,
3263,Syngnathia-cleft palate syndrome,Malformation syndrome,Disorder,,0017981,Q18.8,,C5680792,,,5091
206569,Immune-mediated necrotizing myopathy,Disease,Disorder,,0016098,G72.4,,C3267047,,,
206580,Autosomal recessive lower motor neuron disease with childhood onset,Disease,Disorder,8B61.4,0012608,G12.2,611067,C1970211,C567023,,
206575,Rippling muscle disease with myasthenia gravis,Disease,Disorder,8C60.Y,0016100,G70.8,,C4749335,,,
206443,Late-infantile/juvenile Krabbe disease,Clinical subtype,Subtype of disorder,8A44.4,0016090,E75.2,245200,C0268252,,,
3439,Von Voss-Cherstvoy syndrome,Malformation syndrome,Disorder,,0009121,Q87.8,223340,C1857226,C565618,,1894
206448,Adult Krabbe disease,Clinical subtype,Subtype of disorder,8A44.4,0016091,E75.2,245200,C5680793,,,
206470,Cystadenoma of childhood,Disease,Disorder,,,D27,,C5679785,,,
1217,Spinal atrophy-ophthalmoplegia-pyramidal syndrome,Disease,Disorder,,0015250,G12.2,,C2930956,C535625,,4942
206473,OBSOLETE: Borderline epithelial tumor of ovary,Disease,Disorder,,,,,,,,
2680,Hypomyelination neuropathy-arthrogryposis syndrome,Malformation syndrome,Disorder,,0017049,Q68.8,617468,C4707882,,,
206484,Gonadoblastoma,Disease,Disorder,,0002697,D39.1,424500,C0206661,D018238,,
1681,Diprosopus,Morphological anomaly,Disorder,,0015672,Q89.4,,C0266731,,,1876
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
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
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
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
910,Xeroderma pigmentosum,Disease,Disorder,LD27.1,0019600,Q82.1,610651,C0043346,D014983,10048220,7910
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
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,,,
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
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
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,
206599,Isolated asymptomatic elevation of creatine phosphokinase,Biological anomaly,Disorder,,0016103,R74.8,123320,C4751434,,,
3206,Stüve-Wiedemann syndrome,Malformation syndrome,Disorder,LD24.C,0800043,Q78.8,601559,C0796176,C537502,,5045
206583,Adult polyglucosan body disease,Clinical subtype,Subtype of disorder,5C51.3,0009897,E74.0,263570,C1849722,C564878,10077946,108
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
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
206653,Autosomal recessive distal myopathy,Category,Group of disorders,,,,,C5680801,,,
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
206650,Autosomal dominant distal myopathy,Category,Group of disorders,,0016108,,,C5680803,,,
110,Bardet-Biedl syndrome,Disease,Disorder,5A61.0,0015229,Q87.8,617406,C0752166,D020788,10056715,6866
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
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,,,
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
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
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
2538,Microgastria-limb reduction defect syndrome,Malformation syndrome,Disorder,LD2F.1Y,0007993,Q87.8,156810,C4303067,C537554,,3640
1192,Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,Malformation syndrome,Disorder,LD2H.Y,0008843,I70.9,209010,C2931125,C536178,,2279
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,,,
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
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
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
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,,,
1789,OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome,Malformation syndrome,Disorder,,,,,,,,
206994,Bacterial myositis,Disease,Disorder,FB30,0016127,M60.0,,C0263979,,10085526,
207003,OBSOLETE: Endocrine myopathy,Category,Group of disorders,,,,,,,,
2349,Muscular pseudohypertrophy-hypothyroidism syndrome,Disease,Disorder,5A00.0Y,0016521,E03.1,,C0270958,C537211,10090560,8270
207000,Fungal myositis,Disease,Disorder,FB30,0016130,M60.0,,C0410251,,10086251,
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
206982,Muscular tumor,Category,Group of disorders,,,,,C0282606,D019042,10070956,
2183,Hydrocephalus-obesity-hypogonadism syndrome,Malformation syndrome,Disorder,,0016346,Q87.1,,C4303476,,,2775
206991,Viral myositis,Disease,Disorder,FB30,0016126,M60.0,,C0150005,,10051512,
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
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,,,
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
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
208650,NLRP3-associated autoinflammatory disease,Clinical group,Group of disorders,4A60.1,0016168,,,C2316212,D056587,10068850,10927
1779,Dysmorphism-cleft palate-loose skin syndrome,Malformation syndrome,Disorder,,0015782,Q87.0,,C4706366,,,2009
1272,Aymé-Gripp syndrome,Malformation syndrome,Disorder,,0011049,Q87.8,601088,C0795941,C537933,,958
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
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
208508,Autosomal dominant cerebellar ataxia type II,Clinical group,Group of disorders,,,,,C5848204,,,
208447,Bilateral generalized polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0013907,Q04.3,,C5139324,,,10786
3051,Nicolaides-Baraitser syndrome,Malformation syndrome,Disorder,,0011053,Q87.1,601358,C1303073,C536116,,270
208444,Bilateral frontal polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0016162,Q04.3,,C5437679,,,10783
208441,Bilateral parasagittal parieto-occipital polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0012986,Q04.3,612691,C5437680,,,10785
1134,Isolated arrhinia,Malformation syndrome,Disorder,LA70.0,0015237,Q30.1,,C0265740,C537438,,364
1664,OBSOLETE: Embryonary disorganization syndrome,Malformation syndrome,Disorder,,,,,,,,
1768,Familial caudal dysgenesis,Malformation syndrome,Disorder,,0010831,Q87.8,,C2931053,C535879,,215
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,,,
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
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
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
1415,Hardikar syndrome,Malformation syndrome,Disorder,,0012997,Q87.8,301068,C0795969,C535632,,9280
2151,Hirschsprung disease-ganglioneuroblastoma syndrome,Malformation syndrome,Disorder,,0013082,Q43.1,,C5191058,C538119,,2695
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,,
209341,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,Etiological subtype,Subtype of disorder,,0008026,G12.1,158600,C5780022,C563560,,13519
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
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
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
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
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
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
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
3405,Umbilical cord ulceration-intestinal atresia syndrome,Malformation syndrome,Disorder,LD2F.1Y,0018085,Q43.8,,C4304396,C536938,,5403
210115,Sterile multifocal osteomyelitis with periostitis and pustulosis,Disease,Disorder,4A00.Y,0013021,D84.8,612852,C2748507,C557815,10072224,10516
1884,Ectopia lentis-chorioretinal dystrophy-myopia syndrome,Disease,Disorder,LA12.Y,0015997,Q15.8,,C2931115,C536124,,3999
209981,IRIDA syndrome,Disease,Disorder,3A00.Y,0008788,D50.8,206200,C0085576,C562385,,10957
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
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,,,
210136,Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,Disease,Disorder,DB99.Y,0016214,J84.1,,C4510085,,,
2582,Myalgia-eosinophilia syndrome associated with tryptophan,Malformation syndrome,Disorder,4A43.Y,0016822,M35.8,,C1275050,D016603,10014952,
210122,Congenital alveolar capillary dysplasia,Disease,Disorder,CB04.0,0009934,Q33.6,265380,C2677362,C536590,10077023,8644
210128,Urocanic aciduria,Disease,Disorder,5C50.21,0010167,E70.8,276880,C0268514,C536479,,8539
2254,Pontocerebellar hypoplasia type 1,Malformation syndrome,Disorder,LD20.01,0016396,Q04.3,616081,C5442006,C548069,,10704
209959,Phacoanaphylactic uveitis,Disease,Disorder,9A96.Y,0016207,H20.2,,C1444621,,,
209964,Solitary rectal ulcer syndrome,Disease,Disorder,DB33.0,0016208,K62.6,,C4274343,,,
209951,Autosomal spastic paraplegia type 18,Disease,Disorder,,0012639,G11.4,611225,C2749936,C567628,,4922
209956,Idiopathic uveal effusion syndrome,Disease,Disorder,9B6Y,0016206,H31.8,,C4755300,,,
209973,Benign nocturnal alternating hemiplegia of childhood,Disease,Disorder,,0016209,G81.9,,C4749822,,,
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,,
209970,Episodic ataxia type 7,Disease,Disorder,8A03.14,0012755,G11.8,611907,C2677843,C567459,,
2795,Fowler urethral sphincter dysfunction syndrome,Disease,Disorder,GC01.4,,N39.8,,C2931462,C537271,10071718,2365
209908,Isolated childhood apraxia of speech,Disease,Disorder,,0011184,F80.0,602081,C0750927,,,12889
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
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,,,
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,,,
209943,IRVAN syndrome,Disease,Disorder,9B7Y,0016205,H35.0,,C3665812,,10073929,12868
209932,Cone dystrophy with supernormal rod response,Disease,Disorder,9B7Y,0012475,H35.5,610356,C1835897,,,10649
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,,,
1434,OBSOLETE: Choroideremia-hypopituitarism syndrome,Disease,Disorder,,,,,,,,
209916,Extraskeletal myxoid chondrosarcoma,Disease,Disorder,2B50.Y,0012825,C49.9,612237,C1275278,C563195,10073134,
2519,Microcephaly-seizures-intellectual disability-heart disease syndrome,Malformation syndrome,Disorder,LD2F.1Y,0016719,Q87.8,,C4509817,C537544,,
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,,,
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,,
210566,Myoclonic dystonia 15,Disease,Disorder,,,,607488,C1843786,C538002,,
210571,Dystonia 16,Disease,Disorder,8A02.12,0012789,G24.1,612067,C2677567,C567430,,10539
3286,Catecholaminergic polymorphic ventricular tachycardia,Disease,Disorder,BC65.5,0017990,I47.2,615441,C5574922,C536334,,4421
210272,Mal de débarquement,Clinical syndrome,Disorder,AB31.4,0016217,H81.8,,C1608983,C537840,10064924,6959
210548,Macrocephaly-intellectual disability-autism syndrome,Disease,Disorder,,,Q87.8,605309,C5190809,,,
210159,Adult hepatocellular carcinoma,Disease,Disorder,,0016216,C22.0,114550,C0279607,,,6608
3283,His bundle tachycardia,Disease,Disorder,BC81.1,0017989,I47.1,,C0039235,D013613,10074640,2706
210163,"Congenital lethal myopathy, Compton-North type",Disease,Disorder,,0012929,G71.2,612540,C4750773,,,
3240,Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome,Disease,Disorder,LD2H.Y,0017924,G93.8,619147,C5925004,,,
210141,Inherited congenital spastic tetraplegia,Disease,Disorder,MB50.1,,G82.4,612900,C5190693,,,
210144,"Lethal polymalformative syndrome, Boissel type",Malformation syndrome,Disorder,LD2F.1Y,0013050,Q87.8,612938,C4755275,,,
1546,Cryptococcosis,Disease,Disorder,1F27.2,0005724,B45.9,,C0010414,D003453,10011490,6218
67,Amoebiasis due to Entamoeba histolytica,Disease,Disorder,1A36.10,0019028,A06.9,,C2930799,C531613,,
210592,OBSOLETE: Giant infantile hemangioma,Disease,Disorder,,,,,,,,
210584,Spindle cell hemangioma,Disease,Disorder,XH6RP8,0016222,D18.0,,C1304508,,,
2023,Undifferentiated pleomorphic sarcoma,Disease,Disorder,,0002142,C49.9,,C0334463,D051677,,6963
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,
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,,
3392,Tularemia,Disease,Disorder,1B94.0,0018077,A21.9,,C0041351,D014406,10045146,396
211240,Genetic vascular anomaly,Category,Group of disorders,,,,,C5680854,,,
1063,Tufted angioma,Disease,Disorder,2F2Y,0011927,D18.0,607859,C0346073,C536924,,425
211237,Rare vascular tumor,Category,Group of disorders,,,,,C5680855,,,
2737,Onchocerciasis,Disease,Disorder,1F6A,0017137,B73,,C0029001,D009855,10030314,7252
211067,Episodic ataxia type 5,Disease,Disorder,8A03.14,0013464,G11.8,613855,C1866039,C566601,,
3343,Toxocariasis,Disease,Disorder,1F6D,0005988,B83.0,,C0040553,D014120,10044269,
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,
211047,Specific learning disability,Clinical group,Group of disorders,,0016225,,,C4025790,,,
2583,Mycetoma,Disease,Disorder,1G60.0,0016823,B47.9,,C0024449,D008271,10028427,3862
211037,Autosomal dominant proximal spinal muscular atrophy,Clinical group,Group of disorders,,,,,C5680856,,,
1685,Distomatosis,Clinical group,Group of disorders,1F85,0015675,B66.8,,C0040820,,,1891
211017,Spinocerebellar ataxia type 30,Disease,Disorder,8A03.16,0013241,G11.2,613371,C2936793,C575214,,4950
1902,Ehrlichiosis,Disease,Disorder,1C3Y,0016003,A48.8,,C0085399,D016873,,2092
656,Hereditary steroid-resistant nephrotic syndrome,Disease,Disorder,GB41,0019006,N04.8,607832,C4273714,,,3946
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
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
211247,Rare capillary malformation,Category,Group of disorders,,,,,C5680860,,,
2122,Kaposiform hemangioendothelioma,Disease,Disorder,2F72.Y,0016236,C49.9,,C1367420,C537007,10087551,3077
211243,Simple vascular malformation,Category,Group of disorders,,,,,C5680861,,,
2591,Infantile myofibromatosis,Disease,Disorder,2F7C,0016824,D48.1,615293,C0432284,C562978,,2998
35,Propionic acidemia,Disease,Disorder,5C50.E0,0011628,E71.1,606054,C0268579,D056693,,467
407,Glycine encephalopathy,Disease,Disorder,5C50.70,0011612,E72.5,605899,C0751748,D020158,,7219
2968,Leukocyte adhesion deficiency,Disease,Disorder,4A00.0Y,0017570,D84.8,266265,C5550999,D018370,,
663,Mitochondrial DNA-related progressive external ophthalmoplegia,Disease,Disorder,9C82.0,0019016,H49.4,,C0162674,,,
137,Congenital disorder of glycosylation,Category,Group of disorders,,0015286,E77.8,,C0282577,D018981,10075892,10307
220,Denys-Drash syndrome,Disease,Disorder,LD2A.Y,0008682,N04.1,194080,C0950121,D030321,10070179,5576
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0012173,E71.3,609016,C3711645,,10072653,6867
85,Congenital dyserythropoietic anemia,Clinical group,Group of disorders,3A73,0019403,D64.4,615631,C0002876,D000742,10081457,1999
25,Glutaryl-CoA dehydrogenase deficiency,Disease,Disorder,5C50.E1,0009281,E72.3,231670,C0268595,C536833,10088192,6522
177,Rhizomelic chondrodysplasia punctata,Disease,Disorder,LD24.04,0015776,Q77.3,600121,C0282529,D018902,,13160
1246,Brachydactyly-nystagmus-cerebellar ataxia syndrome,Malformation syndrome,Disorder,,0007226,Q87.8,113400,C0344467,,,971
618,Familial melanoma,Disease,Disorder,QC61.Y,0018961,C43.3,615848,C1512419,,,3460
359,Pediatric-onset glaucoma of genetic origin,Category,Group of disorders,,,,,C3711383,C580055,,2486
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
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
213512,Malignant mixed Müllerian tumor of the ovary,Disease,Disorder,,0003792,C56,,C0392998,,,7296
213504,Adenocarcinoma of ovary,Disease,Disorder,,0002752,C56,,C0948216,,10051938,
175,Cartilage-hair hypoplasia,Disease,Disorder,LD27.0Y,0009595,Q78.8,250250,C0220748,C535916,10069596,6996
209,Cutis laxa,Clinical group,Group of disorders,EE41.0,0016175,,,C0010495,D003483,10011692,6227
42,Medium chain acyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0008721,E71.3,201450,C0220710,C536038,10072654,540
213564,Rare uterine cancer,Category,Group of disorders,,,,,C5679800,,,
213557,Salivary gland type cancer of the breast,Disease,Disorder,2C60,0100508,C50.8,,C4274421,,,
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
300,Bifunctional enzyme deficiency,Disease,Disorder,5C57.1,0009855,E71.3,261515,C0342870,,,4539
213531,Metaplastic carcinoma of the breast,Disease,Disorder,2C6Y,0006043,C50.8,,C1334708,,10073100,10804
213528,Rare adenocarcinoma of the breast,Disease,Disorder,,0016250,C50.8,,C5680864,,,
3188,Congenital pulmonary veins atresia or stenosis,Clinical group,Group of disorders,LA86.3,0017864,Q26.8,,C5680865,,,4598
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
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
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,
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,
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,
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,,
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,,,
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,,,
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
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
213772,Adenocarcinoma of the cervix uteri,Disease,Disorder,2C77.1,0005153,C53.8,,C0279672,,10001197,
213767,Squamous cell carcinoma of the cervix uteri,Disease,Disorder,2C77.0,0006143,C53.8,,C0279671,,10041848,
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,,,
213792,Adenosarcoma of the cervix uteri,Disease,Disorder,2C77.Y,0002876,C53.8,,C1516426,,,
213787,Carcinosarcoma of the cervix uteri,Disease,Disorder,2C77.Y,0002877,C53,,C1332917,,,
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,,,
213812,Primitive neuroectodermal tumor of the cervix uteri,Disease,Disorder,2B52.3,0016284,C53.8,,C4707725,,,
747,Autoimmune pulmonary alveolar proteinosis,Disease,Disorder,CB04.31,0012579,J84.0,610910,C1970472,,,7499
213807,Leiomyosarcoma of the cervix uteri,Disease,Disorder,2B58.1,0016283,C53.8,,C4289817,,,
213802,Rhabdomyosarcoma of the cervix uteri,Disease,Disorder,2B55.Y,0016282,C53.1,,C4289809,,,
2953,Musculocontractural Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0011142,Q79.6,615539,C1866294,,,8486
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
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
3269,Isolated radio-ulnar synostosis,Morphological anomaly,Disorder,LB90.3,0017985,Q74.0,179300,C5925005,,,10876
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
216445,Prelingual non-syndromic genetic deafness,Clinical subtype,Subtype of disorder,,,,,,,,
3309,Tetrasomy 5p syndrome,Malformation syndrome,Disorder,,0018028,Q99.8,,C0795813,,,
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
3379,Distal duplication 17q syndrome,Malformation syndrome,Disorder,,0018069,Q92.3,,C4707663,C536579,,
216694,Congenitally corrected transposition of the great arteries,Morphological anomaly,Disorder,LA85.00,0016301,Q20.5,,C0344616,D000080041,10011120,1544
216718,Isolated congenitally uncorrected transposition of the great arteries,Clinical subtype,Subtype of disorder,,0016302,Q20.3,,C5679810,,,
216729,Congenitally uncorrected transposition of the great arteries with cardiac malformation,Clinical subtype,Subtype of disorder,,0016303,Q20.3,,C5679811,,,
3411,Double uterus-hemivagina-renal agenesis syndrome,Malformation syndrome,Disorder,LD2F.1Y,0008636,Q51.2,192050,C4302552,,10083351,1910
882,Tyrosinemia type 1,Disease,Disorder,5C50.11,0010161,E70.2,276700,C0268490,,10069462,2658
216796,Osteogenesis imperfecta type 1,Clinical subtype,Subtype of disorder,LD24.K0,0008146,Q78.0,166230,C0023931,,,8694
903,Von Willebrand disease,Disease,Disorder,3B12,0019565,D68.0,613554,C0042974,D014842,10047715,7867
216804,Osteogenesis imperfecta type 2,Clinical subtype,Subtype of disorder,LD24.K0,0008147,Q78.0,610915,C0268358,,,10142
216812,Osteogenesis imperfecta type 3,Clinical subtype,Subtype of disorder,LD24.K0,0009804,Q78.0,616229,C0268362,C536044,,8695
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
216828,Osteogenesis imperfecta type 5,Clinical subtype,Subtype of disorder,LD24.K0,0012591,Q78.0,610967,C2931093,C567042,,8699
3474,CHIME syndrome,Malformation syndrome,Disorder,LD27.0Y,0010221,Q87.8,280000,C1848392,C536729,,310
216866,Classic pantothenate kinase-associated neurodegeneration,Clinical subtype,Subtype of disorder,5C64.10,0016304,G23.0,234200,C5679812,,,
216873,Atypical pantothenate kinase-associated neurodegeneration,Clinical subtype,Subtype of disorder,5C64.10,0016305,G23.0,234200,C5568621,,,
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,,,
1441,Ring chromosome 17 syndrome,Malformation syndrome,Disorder,LD7Y,0015433,Q93.2,,C0795863,C538046,,4724
216978,"Niemann-Pick disease type C, late infantile neurologic onset",Clinical subtype,Subtype of disorder,5C56.0Y,0016308,E75.2,,C5680867,,,
361,Familial glucocorticoid deficiency,Disease,Disorder,5A74.Y,0008733,E27.1,617825,C4054695,,10082603,2498
216975,"Niemann-Pick disease type C, severe early infantile neurologic onset",Clinical subtype,Subtype of disorder,5C56.0Y,0016307,E75.2,,C5680868,,,
216986,"Niemann-Pick disease type C, adult neurologic onset",Clinical subtype,Subtype of disorder,5C56.0Y,0016310,E75.2,,C5680869,,,
1787,"Acrofacial dysostosis, Palagonia type",Malformation syndrome,Disorder,LD25.2,0011154,Q75.4,601829,C1866168,C538185,,499
216981,"Niemann-Pick disease type C, juvenile neurologic onset",Clinical subtype,Subtype of disorder,5C56.0Y,0016309,E75.2,,C5679813,,,
1863,NON RARE IN EUROPE: Trochlear dysplasia,Morphological anomaly,Disorder,,,,,,,,
217008,Segmental venous malformation,Malformation syndrome,Disorder,LC51,0016311,Q27.4,,C5679814,,,13063
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
217012,Spinocerebellar ataxia type 31,Disease,Disorder,8A03.16,0007296,G11.8,117210,C1861736,C566146,,9975
2088,Fanconi-Bickel syndrome,Disease,Disorder,5C51.3,0009216,E74.0,227810,C3495427,,,2268
217026,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",Malformation syndrome,Disorder,LD2F.1Y,0013053,Q87.8,612946,C2751878,C567850,,
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
179,Birdshot chorioretinopathy,Disease,Disorder,9B65.0,0011599,H30.1,605808,C1853959,D000080365,10072959,5926
217260,Progressive multifocal leukoencephalopathy,Disease,Disorder,8A45.02,0016318,A81.2,,C0023524,D007968,10036807,7468
292,Congenital enterovirus infection,Disease,Disorder,KA62.5,0017375,P35.8,,C4274223,,,2130
217253,NMDA receptor encephalitis,Disease,Disorder,,0021081,G13.1,,C5700343,D060426,,
767,Polyarteritis nodosa,Disease,Disorder,4A44.4,0019170,M30.0,,C0031036,D010488,10036024,7360
2584,Classic mycosis fungoides,Disease,Disorder,,0009691,C84.0,254400,C4707404,,,3863
217093,"Mucopolysaccharidosis type 2, attenuated form",Clinical subtype,Subtype of disorder,5C56.31,0016316,E76.1,309900,C5679815,,,
3162,Sézary syndrome,Disease,Disorder,2B02,0017844,C84.1,,C0036920,D012751,10040493,7629
217085,"Mucopolysaccharidosis type 2, severe form",Clinical subtype,Subtype of disorder,5C56.31,0016315,E76.1,309900,C0342841,,,
217080,Pulmonary fungal infections in patients deemed at risk,Particular clinical situation in a disease or syndrome,Disorder,1F2Y,,B48.7,,C5680870,,,
217074,Rare carcinoma of pancreas,Category,Group of disorders,,,,,C5680420,D010190,,
2330,Kasabach-Merritt phenomenon,Particular clinical situation in a disease or syndrome,Disorder,KA8Y,0007708,D18.0,141000,C0221025,D059885,10058423,70
217071,Renal cell carcinoma,Clinical group,Group of disorders,2C90.0,0005086,,,C0007134,D002292,10067946,13215
217067,Pouchitis,Particular clinical situation in a disease or syndrome,Disorder,DE2Y,0005312,K91.8,,C0376620,D019449,10036463,
2700,Noma,Disease,Disorder,DA0C.31,0017124,A69.0,,C0028271,D009625,10029502,4001
217064,5-fluorouracil poisoning,Particular clinical situation in a disease or syndrome,Disorder,NE60,0016312,T45.1,,C0274576,,,
1451,CINCA syndrome,Disease,Disorder,4A60.1,0011776,E85.0,607115,C0409818,,10064568,1356
217059,Isolated nail clubbing,Morphological anomaly,Disorder,LB90.5,0007343,Q68.1,119900,C0345408,,,
217055,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,Disease,Disorder,8C20.2,0012014,G60.0,608340,C4750774,,,
556,Malakoplakia,Disease,Disorder,GC01.Y,0018913,N36.8,,C0024525,D008287,10080344,6960
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,,
2745,Opitz GBBB syndrome,Malformation syndrome,Disorder,,0017138,Q87.8,300000,C2936904,,,193
217340,17q21.31 microduplication syndrome,Malformation syndrome,Disorder,LD41.G0,0013298,Q92.3,613533,C4274345,,,
3260,Idiopathic hypereosinophilic syndrome,Disease,Disorder,4B03.Z,0011895,D47.5,607685,C0206141,,,
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
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
2566,Chronic Epstein-Barr virus infection syndrome,Disease,Disorder,1D81.0,0009194,B27.0,226990,C4751209,,,9534
3385,African trypanosomiasis,Disease,Disorder,1F51,0005459,B56.9,,C0041228,D014353,10001461,7826
1560,Cysticercosis,Disease,Disorder,1F70.1,0015484,B69.9,,C0010678,D003551,10011775,8194
566,Congenital microcoria,Malformation syndrome,Disorder,LA11.Y,0007989,Q13.8,156600,C1303009,C537550,,3635
344,OBSOLETE: Arbovirus fever,Category,Group of disorders,,,,,,,,
341,Viral hemorrhagic fever,Category,Group of disorders,,0018087,,,C0019104,D006482,,5494
340,Hemorrhagic fever-renal syndrome,Disease,Disorder,1D62.0,0018081,N08.0*,,C2930957,C535630,10023484,
2552,Microsporidiosis,Disease,Disorder,1F58,0005846,B60.8,,C0085407,D016881,10053982,3655
1171,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,Disease,Disorder,,0011038,G11.1,601338,C1832466,C535351,,1188
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,
217557,Pulmonary interstitial glycogenosis,Disease,Disorder,CB04.Y,0016321,P22.8,,C3161106,,,
1686,Cardiac diverticulum,Morphological anomaly,Disorder,LA88.Y,0015677,Q24.8,,C0546315,,,1094
217566,Chronic respiratory distress with surfactant metabolism deficiency,Disease,Disorder,CB04.2,0016323,J84.8,610913,C5190853,,,
217563,Neonatal acute respiratory distress syndrome,Disease,Disorder,CB04.2,0009929,P28.0,265120,C1968602,C566882,,
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,,
1456,Middle aortic syndrome,Morphological anomaly,Disorder,LA8B.21,0015446,Q25.1,,C3496579,,,
217467,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,Disease,Disorder,3B61.0Y,0013143,D68.5,613116,C5190887,,,
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
217390,Combined immunodeficiency due to DOCK8 deficiency,Disease,Disorder,4A01.1Y,0009478,D81.1,243700,C5679816,,,2816
1132,Aortic arch defects,Category,Group of disorders,,0015236,,,C5680872,,,741
217385,17p13.3 microduplication syndrome,Malformation syndrome,Disorder,LD41.G1,0013182,Q92.3,613215,C4304641,,,
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,,,
217396,Progressive polyneuropathy with bilateral striatal necrosis,Disease,Disorder,,13382,E88.8,613710,C3150973,,,
982,Pulmonary valve agenesis,Clinical group,Group of disorders,,0020064,,,C0265831,,,4597
217371,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,Disease,Disorder,5C53.23,0013111,E88.8,613070,C4304057,,,10593
217346,19q13.11 microdeletion syndrome,Malformation syndrome,Disorder,LD44.K0,0013090,Q93.5,613026,C4304577,,,10592
980,Absence of the pulmonary artery,Morphological anomaly,Disorder,LA8B.1,0020007,Q25.7,,C0265905,,,
217382,Neurodegenerative syndrome due to cerebral folate transport deficiency,Disease,Disorder,5C63.1,0013110,G31.8,613068,C2751584,C567791,10088217,10594
1054,Aneurysm of sinus of Valsalva,Morphological anomaly,Disorder,LA8A.4,0015197,Q25.4,,C2239253,,,670
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
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,
217622,Sensorineural deafness with dilated cardiomyopathy,Disease,Disorder,BC43.00,0011541,I42.0,605362,C4510220,,,
3092,Fixed subaortic stenosis,Morphological anomaly,Disorder,LA8A.5,0017727,Q24.4,271950,C0265853,,,
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
2299,Aortic arch interruption,Morphological anomaly,Disorder,LA8B.22,0009010,Q25.4,,C0152419,,10022599,740
3427,Double outlet left ventricle,Morphological anomaly,Disorder,LA85.3,0018090,Q20.2,,C0265809,,10080133,1907
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
439,Isolated right ventricular hypoplasia,Morphological anomaly,Disorder,LA88.Y,0010179,Q22.6,277200,C1848587,C535682,,4721
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,,,
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
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
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
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
159,Carnitine-acylcarnitine translocase deficiency,Disease,Disorder,5C52.00,0008918,E71.3,212138,C0342791,C562812,10078729,1123
542,Primary cutaneous lymphoma,Category,Group of disorders,,0018898,,,C1302772,,10051708,
707,Plague,Disease,Disorder,1B93,0019095,A20.9,,C0032064,D010930,10035148,
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
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
217656,Inherited isolated arrhythmogenic cardiomyopathy,Disease,Disorder,BC43.6,0016342,I42.8,604401,C4274968,,,
1070,Anisakiasis,Disease,Disorder,1F61,0015200,B81.0,,C0162576,D017129,10002533,693
1467,Cogan syndrome,Disease,Disorder,4A44.Y,0015453,H16.3,,C0271270,D055952,10056667,1421
2157,Histidinemia,Disease,Disorder,5C50.20,0009345,E70.8,235800,C0220992,C538320,,6661
220402,Limited cutaneous systemic sclerosis,Clinical subtype,Subtype of disorder,,0016358,M34.1,181750,C5574860,,,1053
3124,Saccharopinuria,Disease,Disorder,5C50.4,0010005,E72.3,268700,C0268556,C537218,,314
220407,Limited systemic sclerosis,Clinical subtype,Subtype of disorder,4A42.2,0016359,M34.0,,C0748540,,,9749
220386,Semilobar holoprosencephaly,Clinical subtype,Subtype of disorder,LA05.2,,Q04.2,610829,C0751617,,,
2203,Hyperlysinemia,Disease,Disorder,5C50.4,0009388,E72.3,238710,C0268553,D020167,10081311,2828
220393,Diffuse cutaneous systemic sclerosis,Clinical subtype,Subtype of disorder,4A42.1,0016356,M34.0,,C1258104,,,9751
332,Congenital intrinsic factor deficiency,Disease,Disorder,3A01.0,0009852,D51.0,261000,C1394891,C563242,10070440,3024
220448,Macrothrombocytopenia with mitral valve insufficiency,Disease,Disorder,3B62.01,0016360,D69.4,,C4749648,,,
2967,Transcobalamin I deficiency,Disease,Disorder,5C63.0,0008659,E53.8,193090,C0342700,C562798,,
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
2168,Homocarnosinosis,Disease,Disorder,,,,236130,C3495554,C535328,,2730
2195,Dicarboxylic aminoaciduria,Disease,Disorder,5C60.Y,0009110,E72.0,222730,C1857253,C536171,,1855
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
220295,Xeroderma pigmentosum-Cockayne syndrome complex,Disease,Disorder,LD2B,0016354,Q87.1,610651,C4304411,,,
414,Gyrate atrophy of choroid and retina,Disease,Disorder,5C50.9,0009796,E72.4,258870,C0018425,D015799,,6556
622,Homocystinuria without methylmalonic aciduria,Disease,Disorder,5C50.B,0018964,E72.1,236270,C4303479,,,
927,Hyperammonemia due to N-acetylglutamate synthase deficiency,Disease,Disorder,5C50.AY,0009377,E72.2,237310,C0268543,C536109,10071092,7158
3402,Transient tyrosinemia of the newborn,Disease,Disorder,5C50.1Y,0018083,P74.5,,C0268485,,,5388
34,Pipecolic acidemia,Disease,Disorder,,,,,C0282526,,,
2880,Phosphoenolpyruvate carboxykinase deficiency,Disease,Disorder,5C53.0Y,0017320,E74.4,261680,C0268194,C536654,,
941,D-glyceric aciduria,Disease,Disorder,5C50.7Y,0009070,E74.8,220120,C0342765,C535767,,234
220465,Laron syndrome with immunodeficiency,Disease,Disorder,5A61.0,,E34.3,245590,C4510411,,,
220460,Attenuated familial adenomatous polyposis,Disease,Disorder,2B90.Y,0016362,D12.6,175100,C2674616,C538265,,8532
220489,Rare hereditary hemochromatosis,Category,Group of disorders,,,,,,,,
19,2-hydroxyglutaric aciduria,Clinical group,Group of disorders,,0016001,,,C2746066,C535306,10078971,10761
2843,Pentosuria,Disease,Disorder,5C51.0,0009846,E74.8,260800,C0268162,C536652,10064170,418
220497,Joubert syndrome with renal defect,Malformation syndrome,Disorder,LD20.0Y,0012308,Q61.5,614424,C4274117,,,10169
212,Cystathioninuria,Disease,Disorder,5C50.B,0009058,E72.1,219500,C0220993,C535408,,2428
220493,Joubert syndrome with ocular defect,Malformation syndrome,Disorder,LD20.0Y,0016364,Q04.3,617121,C4274118,,,10168
470,Lysinuric protein intolerance,Disease,Disorder,5C60.Y,0009109,E72.0,222700,C0268647,C562687,10058300,3335
1032,OBSOLETE: Hyperdibasic aminoaciduria type 1,Disease,Disorder,,,,,,,,
221074,Marchiafava-Bignami disease,Disease,Disorder,8A46,0016370,G37.1,,C0238265,D054319,10026828,6971
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,,
2965,Prolactinoma,Disease,Disorder,XH1QS0,0010911,D35.2,,C0033375,D015175,10036832,4508
221083,Hemifacial spasm,Disease,Disorder,8B88.2,,G51.3,,C1841639,D019569,,
221091,Trigeminal neuralgia,Disease,Disorder,8B82.0,0008599,G50.0,190400,C0040997,D014277,10044652,7805
538,Lymphangioleiomyomatosis,Disease,Disorder,CB07,0006277,D48.7,606690,C0751674,D018192,10049459,3319
221098,Glossopharyngeal neuralgia,Disease,Disorder,8B87,0016372,G52.1,,C0154731,D020435,10018391,6519
2942,Postpoliomyelitis syndrome,Disease,Disorder,8B62,0017416,G14,,C0080040,D016262,10036239,4454
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
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
221008,Rothmund-Thomson syndrome type 1,Clinical subtype,Subtype of disorder,LD2B,0016368,Q82.8,618625,C5231433,,,
24,Fumaric aciduria,Disease,Disorder,5C53.1,0011730,E88.8,606812,C0342770,C538191,10088204,6476
221016,Rothmund-Thomson syndrome type 2,Clinical subtype,Subtype of disorder,LD2B,0016369,Q82.8,268400,C5203410,,,
1561,Fatal infantile cytochrome C oxidase deficiency,Disease,Disorder,8C73.Y,0015487,G71.3,604377,C4273730,,,
221039,"Hereditary sclerosing poikiloderma, Weary type",Disease,Disorder,EC10,0008261,Q82.8,173700,C1275083,,,
1460,Isolated complex III deficiency,Disease,Disorder,5C53.2Y,0015448,G71.3,616111,C1852372,C565128,,8295
851,Paris-Trousseau thrombocytopenia,Disease,Disorder,3B64.01,0008557,D69.4,188025,C1956093,,,4224
221043,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,Disease,Disorder,,0014310,Q82.8,615704,C4749823,,,13218
221046,Poikiloderma with neutropenia,Disease,Disorder,EC10,0011405,D82.8,604173,C1858723,C565820,,4085
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,,,
221054,Acrocephalopolydactyly,Malformation syndrome,Disorder,LD2F.1Y,0008709,Q87.0,200995,C3495588,C573722,,2096
221061,Familial cerebral cavernous malformation,Malformation syndrome,Disorder,LA90.0Y,0031037,Q28.3,619538,C2931263,C536610,,13641
849,Glanzmann thrombasthenia,Disease,Disorder,3B62.0Y,0100326,D69.1,273800,C0040015,,,2478
225154,Familial infantile bilateral striatal necrosis,Disease,Disorder,LD90.Y,0010080,G23.2,500003,C4087174,,10077450,
225123,TFR2-related hemochromatosis,Disease,Disorder,5C64.10,0011417,E83.1,604250,C1858664,C537248,,10093
225147,Sporadic infantile bilateral striatal necrosis,Disease,Disorder,LD90.Y,0016394,G23.2,,C4087175,,10077451,
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
221126,Fowler vasculopathy,Malformation syndrome,Disorder,,,Q04.8,225790,C1856972,,,
221139,Combined immunodeficiency with facio-oculo-skeletal anomalies,Disease,Disorder,4A01.1Y,0013226,Q87.8,613328,C2750068,C567641,,
221142,Confetti-like macular atrophy,Disease,Disorder,,0016376,L90.8,,C5687155,,,
221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",Malformation syndrome,Disorder,LD28.2,0013170,Q82.8,613177,C2750804,C567716,,
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,,,
3398,Thymic epithelial neoplasm,Category,Group of disorders,,0018079,,,C1266101,C536905,,5201
228000,Idiopathic CD4 lymphocytopenia,Biological anomaly,Disorder,4A00.2,0014226,D72.8,615518,C4706550,,10083934,12375
547,Non-Hodgkin lymphoma,Category,Group of disorders,,0018908,,605027,C0024305,D008228,10029547,
227990,Autoimmune polyendocrinopathy type 4,Disease,Disorder,5B00,0016423,E31.0,,C3266026,,,
842,Testicular seminomatous germ cell tumor,Disease,Disorder,2C80.2,0003669,C62.9,273300,C5551428,,10062124,4792
227982,Autoimmune polyendocrinopathy type 3,Disease,Disorder,5B00,0016422,E31.0,,C1535942,,10064115,10980
227976,"Autosomal recessive optic atrophy, OPA7 type",Disease,Disorder,9C40.B1,0013069,H47.2,612989,C5190807,,,
876,Yolk sac tumor,Disease,Disorder,2F34,0005744,C62.9,273300,C0014145,D018240,10048251,348
227972,Toxic oil syndrome,Disease,Disorder,NE61,0016421,X46,,C0409998,,10051222,
883,Extragonadal teratoma,Disease,Disorder,,0019500,D48.7,,C4708601,D013724,10043276,
227796,Fundus albipunctatus,Disease,Disorder,9B70,0007639,H35.5,136880,C0311338,C562733,,
228123,Coccidioidomycosis,Disease,Disorder,1F25.12,0005706,B38.9,,C0009186,D003047,10009825,9525
228119,Fusariosis,Disease,Disorder,1F2Z,0016426,B48.7,,C0276758,D060585,10051919,
228116,Hughes-Stovin syndrome,Disease,Disorder,4A44.Y,0016425,I28.8,,C4303478,,,
228113,Anal fistula,Particular clinical situation in a disease or syndrome,Disorder,DB50.1,0000754,K60.3,,C0205929,,10002156,
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
228012,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,Disease,Disorder,AB51.1,0016424,H90.3,606346,C4304831,,,
616,Medulloblastoma,Disease,Disorder,2A00.10,0007959,C71.6,155255,C0025149,D008527,10027107,7005
301,Ependymal tumor,Clinical group,Group of disorders,,0003266,,137800,C1333407,,,
541,Primary cutaneous CD30+ T-cell lymphoproliferative disease,Clinical group,Group of disorders,2B03,0018897,C86.6,,C5679826,,,
543,Burkitt lymphoma,Disease,Disorder,2A85.6,0007243,C83.7,113970,C0006413,D002051,10006595,5973
319,Skeletal Ewing sarcoma,Disease,Disorder,,0012817,C40.2,612219,C0585474,,10015560,6390
227535,Hereditary breast cancer,Disease,Disorder,2C6Y,0016419,C50.0,613399,C0346153,C562840,,
668,Osteosarcoma,Disease,Disorder,2B51.2,0002629,C41.9,259500,C0029463,D012516,10031291,7284
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,,,
94,Astrocytoma,Clinical group,Group of disorders,,0021636,,137800,C0004114,D001254,10003571,
360,Glioblastoma,Disease,Disorder,2A00.00,0018177,C71.9,613029,C1621958,D005909,10018336,2491
226292,Permanent congenital hypothyroidism,Category,Group of disorders,5A00.0Y,0016408,,,C5680893,,,
513,Acute lymphoblastic leukemia,Clinical group,Group of disorders,,0004967,C91.0,613067,C1961102,D054198,,522
1957,Esthesioneuroblastoma,Disease,Disorder,XH50L1,0016029,C30.0,,C0206717,D018304,,2197
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
2126,Solitary fibrous tumor,Disease,Disorder,,0016238,D21.9,234820,C0018922,D006393,10018825,
226295,Primary congenital hypothyroidism,Clinical group,Group of disorders,,,,,C3715197,,,
758,Pseudoxanthoma elasticum,Disease,Disorder,EC40,0009925,Q82.8,264800,C0033847,D011561,10037150,9643
419,Hyperprolinemia type 1,Disease,Disorder,5C50.8,0009400,E72.5,239500,C0268529,,10058513,2847
1501,Adrenocortical carcinoma,Disease,Disorder,2D11.Z,0006639,C74.0,202300,C0206686,D018268,10001388,558
226316,Genetic transient congenital hypothyroidism,Disease,Disorder,5A00.03,0044331,P72.2,607200,C4749351,,,
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,,,
3148,Malignant peripheral nerve sheath tumor,Disease,Disorder,2A02.10,0017827,C47.9,,C0751690,D018319,10029236,10872
3273,Synovial sarcoma,Disease,Disorder,,0010434,C49.9,300813,C0039101,D013584,10042863,7721
226313,Congenital hypothyroidism due to maternal intake of antithyroid drugs,Disease,Disorder,5A00.03,0016413,P72.2,,C5190849,,,
226310,OBSOLETE: Peripheral hypothyroidism,Clinical group,Group of disorders,,,,,,,,
391,Classic Hodgkin lymphoma,Disease,Disorder,2B30.1,0009348,C81.4,400021,C1333064,,,
2260,Oligomeganephronia,Morphological anomaly,Disorder,LB30.4,0016407,Q60.4,,C0431694,,,4066
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
1652,Dent disease,Disease,Disorder,GB90.42,0015612,N25.8,310468,C0878681,D057973,10069199,13105
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
3280,Syringomyelia,Clinical group,Group of disorders,8D66,0017987,,186700,C0039144,D013595,10042928,7725
2478,Megalencephalic leukoencephalopathy with subcortical cysts,Disease,Disorder,8A44.3,0011391,E75.2,613926,C1858854,C536141,,3445
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
223,Arginine vasopressin resistance,Disease,Disorder,GB90.4A,0016383,N25.1,304800,C0162283,D018500,10029147,7178
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
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
521,Chronic myeloid leukemia,Disease,Disorder,2B33.2,0011996,C92.1,608232,C0279543,,10009013,6105
228415,5q35 microduplication syndrome,Malformation syndrome,Disorder,LD41.40,0016461,Q92.3,,C4304526,,,
132,Hereditary butyrylcholinesterase deficiency,Disease,Disorder,5C59.Y,0015270,E88.0,617936,C5880943,C537417,10062674,7482
1172,Autosomal recessive cerebellar ataxia,Clinical group,Group of disorders,,0015244,,,C5575375,,,
229717,Non-syndromic agammaglobulinemia,Disease,Disorder,4A01.00,0016462,D80.0,616941,C4707181,,,
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
2345,Isolated Klippel-Feil syndrome,Malformation syndrome,Disorder,LB73.20,0016520,Q76.1,613702,C0022738,D007714,10023464,10280
1333,Familial pancreatic carcinoma,Disease,Disorder,2C10.Z,0015278,C25,613348,C2931038,C535837,,4206
228429,Congenital generalized  lipodystrophy type 4,Clinical subtype,Subtype of disorder,,,E88.1,613327,C2750069,,,
228396,Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,Malformation syndrome,Disorder,LA1Y,0016457,Q87.0,,C4510249,,,
2794,NON RARE IN EUROPE: Familial otosclerosis,Disease,Disorder,,,,,,,,
228387,Spondylo-megaepiphyseal-metaphyseal dysplasia,Disease,Disorder,LD24.3,0013228,Q77.7,613330,C2750066,C567639,,
228390,Frontonasal dysplasia-alopecia-genital anomalies syndrome,Malformation syndrome,Disorder,,0013268,Q87.0,613451,C4510728,,,
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,,,
228399,8q12 microduplication syndrome,Malformation syndrome,Disorder,LD41.70,0016458,Q92.3,,C4304504,,,12816
2781,Osteopetrosis and related disorders,Clinical group,Group of disorders,LD24.10,0017198,Q78.2,,C0029454,D010022,10031280,4155
228402,2q23.1 microdeletion syndrome,Malformation syndrome,Disorder,LD44.20,0016459,Q93.5,156200,C4304532,,,10998
228366,CLN7 disease,Disease,Disorder,5C56.1,,E75.4,610951,C1838571,,,
228363,CLN6 disease,Disease,Disorder,5C56.1,,E75.4,601780,C5680906,,,
228360,CLN5 disease,Disease,Disorder,5C56.1,,E75.4,256731,C1850442,,,
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
228379,Virus-associated trichodysplasia spinulosa,Disease,Disorder,ED5Y,0016455,L08.8,,C3267126,,10072358,
228374,Charcot-Marie-Tooth disease type 2B5,Disease,Disorder,8C20.1,0016454,G60.0,607734,C4749824,,,
228371,Foodborne botulism,Clinical subtype,Subtype of disorder,1A11.0,0016453,A05.1,,C1739094,,,
228340,OBSOLETE: CLN4A disease,Etiological subtype,Subtype of disorder,,,,,,,,
228337,CLN10 disease,Disease,Disorder,5C56.1,,E75.4,610127,C5888338,,,
228329,CLN1 disease,Disease,Disorder,5C56.1,,E75.4,256730,C0268281,,,
228318,OBSOLETE: Idiopathic hypersomnia without long sleep time,Clinical subtype,Subtype of disorder,,,,,,,,
228354,CLN8 disease,Disease,Disorder,5C56.1,,E75.4,600143,C1838570,,,
228349,CLN2 disease,Disease,Disorder,5C56.1,,E75.4,204500,C5679830,,,
228346,CLN3 disease,Disease,Disorder,5C56.1,,,607042,C0751383,,,
228343,CLN4 disease,Disease,Disorder,5C56.1,,E75.4,162350,C1834207,,,
228290,White fibrous papulosis of the neck,Disease,Disorder,EE41.Y,0016447,L98.8,,C4706484,,,
228293,Pseudoxanthoma elasticum-like papillary dermal elastolysis,Disease,Disorder,EE41.Y,0016448,L98.8,,C4049455,,,
228299,Mid-dermal elastolysis,Disease,Disorder,EE41.Y,0016449,L98.8,,C4728147,,10081688,
228302,"Carnitine palmitoyl transferase II deficiency, myopathic form",Clinical subtype,Subtype of disorder,5C52.00,0009704,E71.3,255110,C1833508,C563461,,
228305,"Carnitine palmitoyl transferase II deficiency, severe infantile form",Clinical subtype,Subtype of disorder,5C52.00,0010914,E71.3,600649,C1833511,C563462,,
228308,"Carnitine palmitoyl transferase II deficiency, neonatal form",Clinical subtype,Subtype of disorder,5C52.00,0012136,E71.3,608836,C1833518,C563463,,
228312,"Autoimmune hemolytic anemia, cold type",Clinical group,Group of disorders,3A20.1,0016450,,,C5848126,,10009868,
228315,OBSOLETE: Idiopathic hypersomnia with long sleep time,Clinical subtype,Subtype of disorder,,,,,,,,
228240,Elastoderma,Disease,Disorder,EE41.Y,0016439,L98.8,,C0406555,,,12716
135,CACH syndrome,Disease,Disorder,8A44.3,0800448,E75.2,615889,C1858991,,,231
228243,Elastofibroma dorsi,Disease,Disorder,,0016440,L98.8,,C0346042,,,
228247,Acquired pseudoxanthoma elasticum,Disease,Disorder,EE41.Y,0016441,L98.8,,C1274759,,,
228254,Elastoma,Disease,Disorder,LC2Y,0016442,Q82.8,,C0473583,,,
228264,Papular elastorrhexis,Disease,Disorder,EE41.Y,0016443,L98.8,,C5680907,,,
228272,Primary anetoderma,Disease,Disorder,EE41.1,0016444,L90.2,,C0406550,D057088,,
228277,Familial anetoderma,Disease,Disorder,EE41.1,0016445,L90.8,,C4518793,,,
228285,Acquired cutis laxa,Disease,Disorder,EE41.0,0016446,L98.8,,C0406549,,,
228190,Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,Malformation syndrome,Disorder,LA8Y,0011454,Q87.2,604381,C4302746,,,
3203,Overhydrated hereditary stomatocytosis,Disease,Disorder,3A10.Y,0008493,D58.8,185000,C1861455,,,4183
3202,Dehydrated hereditary stomatocytosis,Disease,Disorder,3A10.Y,0017910,D58.8,616689,C0272051,C536764,10089900,5623
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,,,
228227,Late-onset focal dermal elastosis,Disease,Disorder,,0016437,L98.8,,C4751167,,,
228145,Multiple sclerosis variant,Category,Group of disorders,,,,,C5680912,,,
228140,Idiopathic ventricular fibrillation,Disease,Disorder,BC65.4,,I49.0,612956,C4510132,,,4227
1018,X-linked Alport syndrome-diffuse leiomyomatosis,Clinical subtype,Subtype of disorder,LD2H.Y,0010641,Q87.8,308940,C4511693,,,2432
228165,Baló concentric sclerosis,Disease,Disorder,8A40.Y,0016430,G37.5,,C0004712,,10010252,5885
306,Self-limited infantile epilepsy,Disease,Disorder,8A61.10,0017615,G40.3,602066,C5575231,,,857
228157,Marburg acute multiple sclerosis,Disease,Disorder,8A4Y,0016429,G35,,C4707723,,,
328,Congenital factor X deficiency,Disease,Disorder,3B14.1,0009212,D68.2,227600,C0015519,D005171,10052474,6404
228174,Autosomal dominant Charcot-Marie-Tooth disease type 2N,Disease,Disorder,8C20.1,0013212,G60.0,613287,C2750090,C567653,,
228169,Autosomal dominant striatal neurodegeneration,Disease,Disorder,,0000211,G31.8,609161,C4511004,,,
2132,Hemoglobin C disease,Disease,Disorder,3A51.5,0016242,D58.2,,C0019021,D006445,10018883,2640
2133,Hemoglobin E disease,Disease,Disorder,3A51.A,0016243,D58.2,,C0238159,,10053215,2641
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,,,
288,Hereditary elliptocytosis,Disease,Disorder,3A10.2,0017319,D58.1,611804,C0013902,D004612,10014490,6621
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,,,
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,,,
1320,Idiopathic camptocormia,Morphological anomaly,Disorder,,0015271,M43.8,,C0264162,C537968,10069646,1063
256,Early-onset generalized limb-onset dystonia,Disease,Disorder,8A02.0Y,0007492,G24.1,602554,C3888090,,10076668,2027
231500,Hermansky-Pudlak syndrome due to BLOC-3 deficiency,Clinical subtype,Subtype of disorder,EC23.20,0016501,E70.3,614073,C5679834,,,
441,Pure autonomic failure,Disease,Disorder,8D84,0018608,G90.8,,C0393911,D054970,,10428
231457,Acute pandysautonomia,Disease,Disorder,8C01.0,0016499,G61.0,,C2315246,,,
231466,Acute sensory ataxic neuropathy,Disease,Disorder,8C01.0,0016500,G61.0,,C4707661,,,
1576,Infantile bilateral striatal necrosis,Clinical group,Group of disorders,,0015518,,500003,C0795996,C537500,,5040
231445,Paraparetic variant of Guillain-Barré syndrome,Disease,Disorder,8C01.0,0016497,G61.0,,C4707803,,,
231450,Acute pure sensory neuropathy,Disease,Disorder,,0016498,G61.0,,C5190881,,,
2073,Narcolepsy type 1,Disease,Disorder,7A20.0,0016158,G47.4,614250,C4543926,,,
231426,Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome,Disease,Disorder,8C01.0,0016496,G61.0,,C5190783,,,
231416,Regional variant of Guillain-Barré syndrome,Clinical group,Group of disorders,,,,,C5679835,,,
231419,Functional variant of Guillain-Barré syndrome,Clinical group,Group of disorders,,,,,C5679836,,,
231401,Alpha-thalassemia-myelodysplastic syndrome,Disease,Disorder,3A50.0Y,0010328,D56.0,300448,C0585216,C563023,,
231413,Variant of Guillain-Barré syndrome,Category,Group of disorders,,,,,C5679837,,,
1866,"Focal, segmental or multifocal dystonia",Category,Group of disorders,,0015990,,,C5680914,,,
2611,Linear verrucous nevus syndrome,Disease,Disorder,,0016831,Q82.5,,C5679838,,,3259
231393,Beta-thalassemia-X-linked thrombocytopenia syndrome,Disease,Disorder,3A50.2,0010745,D69.4,314050,C1839161,C564050,,
809,Mixed connective tissue disease,Disease,Disorder,4A43.3,0005854,M35.1,,C0026272,D008947,10027754,7051
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
231249,Hemoglobin E-beta-thalassemia syndrome,Disease,Disorder,3A50.2,0016491,D58.2,,C0472777,,,
231242,Hemoglobin C-beta-thalassemia syndrome,Disease,Disorder,3A50.Y,0016490,D58.2,,C0221020,,,
2197,Idiopathic hypercalciuria,Disease,Disorder,MF98.0,,E83.5,607258,C0543800,,,
231237,Delta-beta-thalassemia,Disease,Disorder,3A50.3,0016489,D56.2,141749,C0271985,C562716,10012236,
231230,Beta-thalassemia associated with another hemoglobin anomaly,Category,Group of disorders,,,,,C5679839,,,
231226,Unstable beta globin chain variant disease,Disease,Disorder,3A50.2,0011381,D56.1,603902,C1858990,C565834,,
18,Distal renal tubular acidosis,Disease,Disorder,GB90.44,0015827,N25.8,611590,C1704380,,10045224,4667
231222,Beta-thalassemia intermedia,Disease,Disorder,3A50.2,0016487,D56.1,613985,C0472767,,10062923,
160,Castleman disease,Disease,Disorder,4B2Y,0015564,D47.7,148000,C0017531,D005871,10050251,12656
231214,Beta-thalassemia major,Disease,Disorder,3A50.2,0016486,D56.1,613985,C0002875,,,
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
231183,Usher syndrome type 3,Clinical subtype,Subtype of disorder,LD2H.4,0016485,H35.5,614504,C1568248,,,5442
347,Frasier syndrome,Disease,Disorder,LD2A.Y,0007635,N04.1,136680,C0950122,D052159,10080313,2375
231178,Usher syndrome type 2,Clinical subtype,Subtype of disorder,LD2H.4,0016484,H35.5,611383,C0339534,,,5440
1670,Chronic diarrhea with villous atrophy,Disease,Disorder,DA90.Y,0010786,K63.8,520100,C1838912,C564019,,
2596,Myopathy and diabetes mellitus,Disease,Disorder,8C73.Y,0010773,G71.3,500002,C5191051,,,3881
231154,Combined immunodeficiency due to partial RAG1 deficiency,Disease,Disorder,4A01.1Y,0012359,D81.8,609889,C4510944,,,13712
2966,Properdin deficiency,Disease,Disorder,4A00.1Y,0010713,D84.1,312060,C0398762,C537241,,4513
231160,Familial cerebral saccular aneurysm,Disease,Disorder,8B22.6,,I67.1,614252,C3839866,,,
231169,Usher syndrome type 1,Clinical subtype,Subtype of disorder,LD2H.4,0010168,H35.5,614869,C1568247,,,5435
231137,Silver-Russell syndrome due to 7p11.2p13 microduplication,Etiological subtype,Subtype of disorder,LD2F.1Y,0016479,Q87.1,,C5679840,,,
231140,Silver-Russell syndrome due to an imprinting defect of 11p15,Etiological subtype,Subtype of disorder,LD2F.1Y,0016480,Q87.1,,C5680916,,,
231144,Silver-Russell syndrome due to 11p15 microduplication,Etiological subtype,Subtype of disorder,LD2F.1Y,0016481,Q87.1,,C5680917,,,
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,,,
231120,Beckwith-Wiedemann syndrome due to CDKN1C mutation,Etiological subtype,Subtype of disorder,LD2C,0016476,Q87.3,130650,C5680918,,,
231127,Beckwith-Wiedemann syndrome due to 11p15 microdeletion,Etiological subtype,Subtype of disorder,LD2C,0016477,Q87.3,,C5680919,,,
231130,Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion,Etiological subtype,Subtype of disorder,LD2C,0016478,Q87.3,,C5680920,,,
231080,High-grade dysplasia in patients with Barrett esophagus,Particular clinical situation in a disease or syndrome,Disorder,DA23.1,,K22.7,,C1334003,,,
405,Familial hypocalciuric hypercalcemia,Disease,Disorder,5A51.2,0018458,E83.5,600740,C1809471,,10068698,10828
231108,Rhabdoid tumor predisposition syndrome,Disease,Disorder,,,C49.9,613325,C2985524,,,
231111,Drug-induced lupus erythematosus,Disease,Disorder,4A40.1,0016474,M32.0,,C0263591,,10013706,
231117,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,Etiological subtype,Subtype of disorder,LD2C,0016475,Q87.3,,C5680922,,,
1223,Balantidiasis,Disease,Disorder,1A30,0005662,A07.0,,C0004692,D001447,10004080,809
231040,Familial generalized lentiginosis,Disease,Disorder,EC23.0,0007891,L81.4,151001,C4707357,,,
3318,Essential thrombocythemia,Disease,Disorder,3B63.1Z,0005029,D47.3,614521,C0040028,D013920,10015493,6594
230857,Ehlers-Danlos/osteogenesis imperfecta syndrome,Disease,Disorder,LD28.1Y,0016470,Q79.6,619120,C4518787,,,
230851,Cardiac-valvular Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0009159,Q79.6,225320,C4303789,,,12613
231031,Erythema palmare hereditarium,Disease,Disorder,,0007570,L59.8,133000,C1851502,C565041,,
913,Zollinger-Ellison syndrome,Disease,Disorder,5A43.1,0019610,E16.4,,C0043515,D015043,10017852,7918
231013,Congenital trigeminal anesthesia,Disease,Disorder,,0007384,G50.8,122450,C1852541,C536440,10088099,10034
230800,Toxin-mediated infectious botulism,Clinical subtype,Subtype of disorder,1A11.1,0016468,A05.1,,C5679843,,,
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
230839,Classical-like Ehlers-Danlos syndrome type 1,Disease,Disorder,LD28.1Y,0011670,Q79.6,606408,C1848029,C536193,,8507
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
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,,
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,,,
238446,15q11q13 microduplication syndrome,Malformation syndrome,Disorder,LD41.E,0012081,Q92.3,608636,C2675336,C557830,,
238329,Severe X-linked mitochondrial encephalomyopathy,Disease,Disorder,5C53.23,0010437,E88.8,300816,C4302745,,,
231573,Congenital erosive and vesicular dermatosis,Disease,Disorder,KC31,0016503,Q82.8,,C4751164,,,
231580,Primary unilateral adrenal hyperplasia,Disease,Disorder,5A72.0,0016504,E26.0,,C4274967,,,
231556,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,Disease,Disorder,,0009177,Q81.8,226440,C4751165,,,299
231568,Autosomal dominant generalized dystrophic epidermolysis bullosa,Disease,Disorder,,7549,Q81.2,131750,C5679846,,,2139
231632,Ectopic aldosterone-producing tumor,Disease,Disorder,5A72.0,0016506,E26.8,,C4755311,,,
231637,Rare surgically correctable form of primary aldosteronism,Category,Group of disorders,,,,,C5680925,,,
231625,Adrenocortical carcinoma with pure aldosterone hypersecretion,Disease,Disorder,5A72.0,16505,C74.0,,C3839852,,,
1900,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,Clinical subtype,Subtype of disorder,LD28.1Y,0016002,Q79.6,225400,C0268342,,,
231671,Isolated growth hormone deficiency type IB,Clinical subtype,Subtype of disorder,5A61.3,0013006,E23.0,612781,C2748571,C567564,,3919
286,Vascular Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0017314,Q79.6,130050,C0268338,D000094623,,2082
231679,Isolated growth hormone deficiency type II,Clinical subtype,Subtype of disorder,5A61.3,0008250,E23.0,173100,C0271567,C562704,,1696
231641,Rare non surgically correctable form of primary aldosteronism,Category,Group of disorders,,,,,C5680926,,,
285,Hypermobile Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0007523,Q79.6,130020,C0268337,C536196,,2081
231662,Isolated growth hormone deficiency type IA,Clinical subtype,Subtype of disorder,5A61.3,0009876,E23.0,618160,,,,7399
231736,Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,Malformation syndrome,Disorder,LA10.Y,0016509,Q15.8,,C4751163,,,10938
231742,Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,Malformation syndrome,Disorder,,0016510,Q83.3,,C5680927,,,
257,Epidermolysis bullosa simplex with muscular dystrophy,Disease,Disorder,EC30,0009181,Q81.0,226670,C2931072,,,2137
1901,Dermatosparaxis Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0009161,Q79.6,225410,C2700425,,,2089
231692,Isolated growth hormone deficiency type III,Clinical subtype,Subtype of disorder,5A61.3,0010615,E23.0,300123,,,,3921
231720,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,Malformation syndrome,Disorder,5A61.0,,E23.0,221750,C4749825,,,10603
1899,Arthrochalasia Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0007525,Q79.6,617821,C0268345,,,2084
839,"Congenital nephrotic syndrome, Finnish type",Disease,Disorder,GB4Z,0009732,N04.8,256300,C0403399,C535761,10060740,1500
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
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,,,
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,,,
452,X-linked lissencephaly with abnormal genitalia,Malformation syndrome,Disorder,LD20.1,0010268,Q04.3,300215,C1846171,C564563,,12491
238750,4q21 microdeletion syndrome,Malformation syndrome,Disorder,LD44.40,0013292,Q93.5,613509,C4304530,,,
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
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
238744,Mammary-digital-nail syndrome,Malformation syndrome,Disorder,,0013368,Q87.2,613689,C3150946,,,
238766,Ptosis-syndactyly-learning difficulties syndrome,Malformation syndrome,Disorder,,,,,,,,
238769,1q44 microdeletion syndrome,Malformation syndrome,Disorder,LD44.10,0016561,Q93.5,,C4304540,,,10943
238510,OBSOLETE: Lymphoproliferative syndrome,Clinical group,Group of disorders,,,,,,,,
238517,Hypotonia-cystinuria type 1 syndrome,Clinical group,Group of disorders,GB90.40,,,,C5680931,,,
238505,Combined immunodeficiency due to CD27 deficiency,Disease,Disorder,,,D47.9,615122,C3554540,,,
238468,Hypohidrotic ectodermal dysplasia,Disease,Disorder,LD27.02,0016535,Q82.4,614941,C5848103,,,76
238475,Familial hypercholanemia,Disease,Disorder,,,E88.8,607748,C1843139,,,
238455,Infantile dystonia-parkinsonism,Disease,Disorder,8A02.12,0013150,G24.8,619738,C2751067,C567730,,10484
238459,SLC35A1-CDG,Disease,Disorder,5C54.2,0011342,E77.8,603585,C1970344,C567040,,12409
238578,Familial clubfoot due to 17q23.1q23.2 microduplication,Etiological subtype,Subtype of disorder,LD41.G0,0013329,Q66.8,613618,C3150880,,,
238583,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,Disease,Disorder,,0016543,E70.1,261640,C0751436,,,7751
238557,Chuvash erythrocytosis,Disease,Disorder,3A80.0,0009892,D75.1,263400,C4749274,,,
238569,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,Disease,Disorder,4A6Y,0016542,K52.8,613148,C4749850,,,13016
238547,Acquired secondary polycythemia,Category,Group of disorders,,0016541,,,C1318533,,,
238523,Atypical hypotonia-cystinuria syndrome,Disease,Disorder,GB90.40,0016539,E72.0,606407,C4755274,,,
238536,Congenital secondary polycythemia,Category,Group of disorders,,0016540,,,C5679848,,,
238637,Megacystis-megaureter syndrome,Disease,Disorder,LB31.7,0016548,Q62.7,,C0431752,,,
238624,Idiopathic intracranial hypertension,Disease,Disorder,8D60.Y,0009468,G93.2,243200,C0033845,D011559,10078904,4561
238621,Ileal pouch anal anastomosis related faecal incontinence,Particular clinical situation in a disease or syndrome,Disorder,DE2Y,,K91.8,,C5680932,,,
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
238593,IgG4-related mesenteritis,Clinical subtype,Subtype of disorder,4A43.0,0016544,K65.8,,C0267770,,10063031,8169
238691,OBSOLETE: Congenital liver hemangioma,Disease,Disorder,,,,,,,,
238688,Neonatal iodine exposure,Disease,Disorder,5A00.03,0016554,P72.2,,C4751432,,,
238670,Isolated thyrotropin-releasing hormone deficiency,Disease,Disorder,5A00.01,0010140,E03.1,275120,C0271585,,,
238666,Isolated congenital hypogonadotropic hypogonadism,Disease,Disorder,5A61.0,0016553,E23.0,,C5679849,,,
238654,"Congenital primary megaureter, nonrefluxing and unobstructed form",Clinical subtype,Subtype of disorder,LB31.1,0016552,Q62.2,,C5680934,,,
238650,"Congenital primary megaureter, refluxing form",Clinical subtype,Subtype of disorder,LB31.1,0016551,Q62.2,,C5680935,,,
238646,"Congenital primary megaureter, obstructed form",Clinical subtype,Subtype of disorder,LB31.1,0016550,Q62.2,,C5680936,,,
238642,"Primary megaureter, adult-onset form",Clinical subtype,Subtype of disorder,LB31.1,0016549,Q62.2,,C5680937,,,
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,,,,
240112,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,Clinical subtype,Subtype of disorder,8A00.10,0016564,G23.1,260540,C5679850,,,
240103,Progressive supranuclear palsy-corticobasal syndrome,Clinical subtype,Subtype of disorder,8A00.10,0016563,G23.1,260540,C5548189,,,
240094,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,Clinical subtype,Subtype of disorder,8A00.10,0016562,G23.1,260540,C5679851,,,
240085,Progressive supranuclear palsy-predominant parkinsonism syndrome,Clinical subtype,Subtype of disorder,8A00.10,0009839,G23.1,260540,C5548370,,,
240760,Nijmegen breakage syndrome-like disorder,Malformation syndrome,Disorder,4A01.31,0013118,Q87.8,613078,C2751318,C567767,,
331226,Susceptibility to infection due to TYK2 deficiency,Disease,Disorder,,0012682,D82.4,611521,C1969086,C566928,,
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
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,,
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,,,
331190,Immunodeficiency due to ficolin3 deficiency,Disease,Disorder,4A00.1Y,0013467,D84.1,613860,C4707940,,,
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
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,,,
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,,,
329977,Classic neuroendocrine tumor of appendix,Clinical subtype,Subtype of disorder,,0018016,D37.3,,C5679854,,,
329984,Goblet cell carcinoma,Clinical subtype,Subtype of disorder,,0018017,C18.1,,C0205695,,,10414
330012,High altitude pulmonary edema,Particular clinical situation in a disease or syndrome,Disorder,CB01,0031257,J81,,C0340100,C535833,,
330015,Lead poisoning,Disease,Disorder,NE61,0018019,T56.0,,C0023176,D007855,,
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,,,
330041,Hemoglobin M disease,Disease,Disorder,3A92,0018023,D74.0,617973,C3665425,C581942,,13007
330021,Mercury poisoning,Disease,Disorder,NE61,0018020,T56.1,,C0025427,D008630,,7021
330029,Hypotrichosis-deafness syndrome,Disease,Disorder,,0018021,H90.5,,C5190988,,,
330058,Hydroa vacciniforme,Disease,Disorder,EJ30.Y,0018024,L56.4,,C0020241,D006837,10083442,9654
330061,Actinic prurigo,Disease,Disorder,EJ30.Y,0008273,L56.4,174770,C0406217,C566780,10000616,
330050,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,Etiological subtype,Subtype of disorder,5C5Y,0013726,E88.8,614388,C3280660,,,
330054,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,Disease,Disorder,,0013116,G71.3,613076,C4750835,,,10522
329813,Mosaic genome-wide paternal uniparental disomy syndrome,Malformation syndrome,Disorder,,0018007,Q95.8,,C5190828,,,
329802,5p13 microduplication syndrome,Malformation syndrome,Disorder,,0013169,Q92.3,613174,C4749507,,,
329883,Non-hypoproteinemic hypertrophic gastropathy,Disease,Disorder,DA42.76,0018009,K29.6,,C4750834,,,
329874,Idiopathic giant cell myocarditis,Disease,Disorder,BC42.0,0018008,I40.1,,C0264856,,,
329475,Spastic paraplegia-Paget disease of bone syndrome,Disease,Disorder,,0018005,G11.4,,C4511969,,,
329481,Lipoprotein glomerulopathy,Disease,Disorder,MF82,0012725,N07.8,611771,C2673196,C567089,,
329478,Adult-onset distal myopathy due to VCP mutation,Disease,Disorder,,0018006,G71.0,,C4749506,,,
329942,Transient neonatal multiple acyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0018014,E71.3,,C4509950,,,
329931,C3 glomerulonephritis,Histopathological subtype,Subtype of disorder,MF8Y,0013892,N03.5,614809,C4055342,,,
329971,Generalized juvenile polyposis/juvenile polyposis coli,Clinical subtype,Subtype of disorder,2B90.Y,0008276,D12.6,175050,C5680947,,,
329967,Intermittent hydrarthrosis,Disease,Disorder,FA27.4,0018015,M12.4,,C0149910,,,
329894,Juvenile overlap myositis,Disease,Disorder,,0018011,M33.0,,C4707728,,,
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,
329903,Immunoglobulin-mediated membranoproliferative glomerulonephritis,Clinical subtype,Subtype of disorder,,0014005,N03.5,615008,C5679858,,,
329308,Fatty acid hydroxylase-associated neurodegeneration,Disease,Disorder,,0017999,G23.0,612319,C3668943,C580102,,10810
329314,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,Disease,Disorder,,0014899,G71.3,617070,C4518838,,,
329319,Thrombocythemia with distal limb defects,Disease,Disorder,,0018000,Q87.2,,C4749944,,,
329324,Inverse Klippel-Trénaunay syndrome,Disease,Disorder,,0018001,,,C5679859,,,
329284,Beta-propeller protein-associated neurodegeneration,Disease,Disorder,,0010476,G23.0,300894,C3550973,,,12570
329303,PLA2G6-associated neurodegeneration,Clinical group,Group of disorders,,0017998,,,,,,
329457,Distal arthrogryposis type 5D,Disease,Disorder,,0014028,Q68.8,615065,C3554415,,,
329466,"Autosomal dominant focal dystonia, DYT25 type",Disease,Disorder,,0014033,G24.1,615073,C4304670,,,10667
329469,Acute megakaryoblastic leukemia in children without Down syndrome,Clinical subtype,Subtype of disorder,2A60.36,0018004,C94.2,,C5679860,,,
329329,Autosomal recessive frontotemporal pachygyria,Malformation syndrome,Disorder,,0012462,Q04.3,,C1853215,C538092,,
329332,Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,Malformation syndrome,Disorder,,0013735,Q87.8,614407,C3280692,,,
329336,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,Disease,Disorder,,0018002,G71.3,616479,C4511138,,,
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,,,
329224,Schuurs-Hoeijmakers syndrome,Malformation syndrome,Disorder,,0014006,Q87.0,615009,C3554343,,10089146,13043
329217,Cerebral sinovenous thrombosis,Disease,Disorder,8B22.1,0017993,G08,,C0338573,,10083037,
329211,Autosomal dominant neovascular inflammatory vitreoretinopathy,Disease,Disorder,9B72.Y,0100450,H35.2,193235,C4721549,,,
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,,,
329191,Tall stature-long halluces-multiple extra-epiphyses syndrome,Disease,Disorder,LD2C,0014401,Q87.3,615923,C4749503,,,
329178,Congenital muscular dystrophy with intellectual disability and severe epilepsy,Disease,Disorder,,0014023,E77.8,615042,C5190603,,,12416
329258,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,Disease,Disorder,,0014012,G60.0,615025,C3554366,,,
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,,,
329242,Congenital chronic diarrhea with protein-losing enteropathy,Disease,Disorder,DA96.Y,,P78.3,615863,C4751003,,,
329235,X-linked central congenital hypothyroidism with late-onset testicular enlargement,Disease,Disorder,5A61.41,0010475,E03.1,300888,C4749943,,,
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,,,
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
1243,Best vitelliform macular dystrophy,Disease,Disorder,9B70,0007931,H35.5,153700,C2745945,,,182
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,,,
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
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,,,
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
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,,,
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
324972,MAGIC syndrome,Disease,Disorder,,0017958,D89.8,,C0406568,,10078132,13371
324977,Proteasome-associated autoinflammatory syndrome,Disease,Disorder,4A60.Y,0009726,D89.8,256040,,,,
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,,,
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,,,
324713,"ABeta amyloidosis, Italian type",Clinical subtype,Subtype of disorder,8B22.3,0017947,E85.4+,605714,C5679879,,,
324737,SRD5A3-CDG,Disease,Disorder,5C54.0,0012885,E77.8,612379,C4317224,,,12397
324723,"ABeta amyloidosis, Arctic type",Clinical subtype,Subtype of disorder,8B22.3,0017949,I68.0*,605714,C5679880,,,
324648,Invasive non-typhoidal salmonellosis,Disease,Disorder,1A09.Y,0017944,A02.8,,C4706572,,,
324636,Autoerythrocyte sensitization syndrome,Disease,Disorder,ED02,0017943,D69.2,,C0301928,C535645,10078888,6481
324708,"ABeta amyloidosis, Iowa type",Clinical subtype,Subtype of disorder,8B22.3,0017946,I68.0*,605714,C5679881,,,
324703,ABetaL34V amyloidosis,Clinical subtype,Subtype of disorder,8B22.3,0017945,I68.0*,605714,C5679882,,,
324611,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,Disease,Disorder,,0017940,G60.0,,C4707173,,,
324604,Classic multiminicore myopathy,Clinical subtype,Subtype of disorder,8C72.0Y,0017939,G71.2,602771,C5679883,,,13661
324632,Hendra virus infection,Disease,Disorder,1D63,0017942,B33.8,,C4505487,,,
324625,Chikungunya,Disease,Disorder,1D40,0017941,A92.0,,C0008055,D065632,10067256,6038
324588,Familial dyskinesia and facial myokymia,Disease,Disorder,,0800028,G51.4,606703,C1847627,C564676,,12722
324601,X-linked cleft palate and ankyloglossia,Malformation syndrome,Disorder,,,Q38.6,303400,C4707825,,,1394
324581,Benign Samaritan congenital myopathy,Disease,Disorder,,0017936,G71.2,,C4749502,,,
324585,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,Disease,Disorder,8C20.2,0017937,G60.0,,C4755257,,,
324569,Pontocerebellar hypoplasia type 8,Malformation syndrome,Disorder,,0013990,Q04.3,614961,C3554209,,,
324575,Hyperinsulinism due to HNF1A deficiency,Disease,Disorder,,0017935,E16.1,,C4303475,,,
324540,Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,Malformation syndrome,Disorder,,0017934,Q87.0,,C4751006,,,
324561,Hypopigmentation-punctate palmoplantar keratoderma syndrome,Disease,Disorder,,0014227,Q82.8,615522,C3809781,,,12384
324530,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,Disease,Disorder,,0013944,D89.8,614878,C3553961,,,
324535,Combined oxidative phosphorylation defect type 11,Disease,Disorder,,0013969,E88.8,614922,C5190991,,,
324525,Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,Disease,Disorder,5C53.2Y,0017933,E88.8,,C4749942,,,
324442,Autosomal recessive axonal neuropathy with neuromyotonia,Disease,Disorder,,0007646,G60.0,137200,C5700127,,,12353
324416,Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,Malformation syndrome,Disorder,,0017932,Q87.8,,C4751007,,,
324422,ALG13-CDG,Disease,Disorder,5C54.0,0010472,E77.8,300884,C4317295,,,12401
324410,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,Disease,Disorder,LD90,0010473,Q87.8,300886,C4751008,,,
324381,Hereditary inclusion body myopathy type 4,Disease,Disorder,,0017931,G71.8,,C4749501,,,
324364,Mixed sclerosing bone dystrophy with extra-skeletal manifestations,Disease,Disorder,LD24.1Y,0017930,M85.8,,C5191052,,,
324353,Congenital achiasma,Morphological anomaly,Disorder,,0017929,H47.4,,C4518345,,,
324321,Sinoatrial node dysfunction and deafness,Disease,Disorder,BC80.2,0013960,H91.8,614896,C3554018,,,
324313,9p13 microdeletion syndrome,Malformation syndrome,Disorder,,0017928,Q93.5,,C4707097,,,
324307,Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome,Malformation syndrome,Disorder,LD24.C,,Q68.4,,C4707850,,,
324299,Multiple paragangliomas associated with polycythemia,Disease,Disorder,3A81.Y,0017926,D75.1,,C5679884,,,
324294,T-cell immunodeficiency with epidermodysplasia verruciformis,Disease,Disorder,,0017925,D84.8,618307,C4749500,,,
324290,PRDM8-related progressive myoclonus epilepsy,Disease,Disorder,8A61.41,0014717,G40.3,616640,C4518574,,,
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,,,
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,,,
320346,Pure or complex autosomal recessive spastic paraplegia,Clinical group,Group of disorders,,,,,C5679887,,,
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,,,
320355,Autosomal dominant spastic paraplegia type 41,Disease,Disorder,8B44.00,0013239,G11.4,613364,C3888208,,,
320370,Autosomal recessive spastic paraplegia type 43,Disease,Disorder,8B44.01,0014024,G11.4,615043,C2680446,,,17473
320365,Autosomal dominant spastic paraplegia type 36,Disease,Disorder,8B44.00,0013132,G11.4,613096,C2936879,C567930,,
320380,Autosomal recessive spastic paraplegia type 54,Disease,Disorder,8B44.01,0014018,G11.4,615033,C3539495,,,17475
320375,Autosomal recessive spastic paraplegia type 55,Disease,Disorder,8B44.01,0014020,G11.4,615035,C3539506,,,17474
320391,Autosomal recessive spastic paraplegia type 46,Disease,Disorder,8B44.01,0013737,G11.4,614409,C2828721,,,17476
320385,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,Disease,Disorder,8C21.Y,0014016,G11.4,615031,C5190860,,,13568
320401,Autosomal recessive spastic paraplegia type 44,Disease,Disorder,8B44.01,0013179,G11.4,613206,C2750784,C567707,,17478
320396,Autosomal recessive spastic paraplegia type 45,Disease,Disorder,8B44.01,0013165,G11.4,613162,C3888209,,,17477
320411,Autosomal recessive spastic paraplegia type 56,Disease,Disorder,8B44.01,0014015,G11.4,615030,C3539507,,,17480
320406,Spastic paraplegia-optic atrophy-neuropathy syndrome,Disease,Disorder,8B44.01,0012297,G11.4,609541,C1836010,C563702,,
319543,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,Category,Group of disorders,,,,,C5679889,,,
319547,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,Disease,Disorder,4A00.2,0017900,D84.8,614889,C4303071,,,
319535,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,Category,Group of disorders,,,,,C5679890,,,
319539,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,Category,Group of disorders,,,,,C5679891,,,
319519,Combined oxidative phosphorylation defect type 14,Disease,Disorder,5C53.23,0013986,E88.8,614946,C4755312,,,
319524,Combined oxidative phosphorylation defect type 15,Disease,Disorder,5C53.23,0013987,E88.8,614947,C4706313,,,
319509,Combined oxidative phosphorylation defect type 9,Disease,Disorder,5C53.23,0013811,E88.8,614582,C4706315,,,
319514,Combined oxidative phosphorylation defect type 13,Disease,Disorder,5C53.23,0013977,E88.8,614932,C4706283,,,
319589,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Disease,Disorder,4A00.2,0017903,D84.8,,C4510875,,,
319595,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,Disease,Disorder,4A00.2,0013956,D84.8,614892,C4509855,,,
319574,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Disease,Disorder,4A00.2,0017902,D84.8,614889,C4511098,,,
319581,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Disease,Disorder,4A00.2,0014429,D84.8,615978,C4511097,,,
319563,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,Disease,Disorder,4A00.2,0014502,D84.8,616126,C4509853,,,
319569,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Disease,Disorder,4A00.2,0017901,D84.8,209950,C4511091,,,
319552,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,Disease,Disorder,4A00.2,0013955,D84.8,614891,C4274793,,,10984
319558,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,Disease,Disorder,4A00.2,0013954,D84.8,614890,C4303665,,,
319651,Constitutional megaloblastic anemia with severe neurologic disease,Disease,Disorder,3A02.Y,0013456,D52.8,613839,C3151205,C565095,,11000
319646,PGM1-CDG,Disease,Disorder,5C54.0,0013968,E77.8,614921,C2752015,,,4329
319640,Retinal macular dystrophy type 2,Disease,Disorder,9B75.Y,0011957,H35.5,608051,C4749334,C562746,,
319635,Amyloidosis cutis dyschromia,Disease,Disorder,,0017906,L99.0*,617920,C4554601,,,
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,,,
319600,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,Disease,Disorder,4A00.2,0013957,D84.8,614893,C4509854,,,
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,,,
319675,"Microcephalic primordial dwarfism, Dauber type",Malformation syndrome,Disorder,LD24.D,0013922,Q87.1,614851,C4749303,,,
319671,Alazami syndrome,Malformation syndrome,Disorder,LD24.D,0014031,Q87.1,615071,C3554439,,,
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
319266,Omsk hemorrhagic fever,Disease,Disorder,1D4A,0017882,A98.1,,C0019103,D006481,10030310,8254
319276,Clear cell renal carcinoma,Disease,Disorder,,0005005,C64,,C0279702,,10073251,9574
319239,Brazilian hemorrhagic fever,Disease,Disorder,1D6Y,0017877,A96.8,,C0343633,,,
319244,Chapare hemorrhagic fever,Disease,Disorder,1D6Y,0017878,A96.8,,C4274434,C000723468,,
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,
319314,OBSOLETE: Renal cell carcinoma associated with neuroblastoma,Disease,Disorder,,,,,,,,
319319,Renal medullary carcinoma,Disease,Disorder,,0006260,C64,,C4049328,,10064886,13175
319322,Mucinous tubular and spindle cell renal carcinoma,Disease,Disorder,,0003011,C64,,C4707257,,,
319325,Tubulocystic renal cell carcinoma,Disease,Disorder,,0017890,C64,,C4288091,,,
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
319303,Chromophobe renal cell carcinoma,Disease,Disorder,,0017885,C64,,C1266042,,10080544,6064
319308,MiT family translocation renal cell carcinoma,Disease,Disorder,,0017886,C64,300854,C4518356,,,
319332,Autosomal recessive myogenic arthrogryposis multiplex congenita,Disease,Disorder,,0017892,Q74.3,618484,C4707155,,,
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,,,
319487,Familial papillary or follicular thyroid carcinoma,Disease,Disorder,,0017895,C73,616535,,,,8488
319480,Acute myeloid leukemia with CEBPA somatic mutations,Disease,Disorder,,0017894,C92.0,601626,C4707178,,,
319504,Combined oxidative phosphorylation defect type 8,Disease,Disorder,5C53.23,0013570,E88.8,614096,C4518839,,,
319494,Familial nonmedullary thyroid carcinoma,Clinical group,Group of disorders,,0017896,,,C5191836,,,
319465,Inherited acute myeloid leukemia,Disease,Disorder,,0017893,C92.0,601626,C4707228,,,
319462,Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations,Disease,Disorder,,11584,D61.0,605724,C4707792,,,
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,
319195,Chondroectodermal dysplasia with night blindness,Disease,Disorder,,0017869,Q77.6,,C4706300,,,
319199,Autosomal recessive spastic paraplegia type 53,Disease,Disorder,,0013962,G11.4,614898,C3539494,,,17445
319229,Bolivian hemorrhagic fever,Disease,Disorder,1D61.1,0017875,A96.1,,C0282192,,10005932,
319234,Venezuelan hemorrhagic fever,Disease,Disorder,1D61.3,0017876,A96.8,,C0042470,,,
319218,Ebola hemorrhagic fever,Disease,Disorder,1D60.01,0005737,A98.4,,C0282687,D019142,10014071,2035
319223,Argentine hemorrhagic fever,Disease,Disorder,1D61.0,0017874,A96.0,,C0019097,,10003090,
319160,Congenital myopathy with internal nuclei and atypical cores,Disease,Disorder,,0013890,G71.2,614807,C4707232,,,
319171,Distal 17p13.1 microdeletion syndrome,Malformation syndrome,Disorder,,0017867,Q93.5,,C4749349,,,10996
319189,Familial cortical myoclonus,Disease,Disorder,,0013981,G25.3,614937,C3539916,,,
319192,Diencephalic-mesencephalic junction dysplasia,Morphological anomaly,Disorder,,0017868,Q04.8,618646,C4707858,,,
319182,Wiedemann-Steiner syndrome,Malformation syndrome,Disorder,,0011518,Q87.1,605130,C1854630,,,5565
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
317425,Severe combined immunodeficiency due to DNA-PKcs deficiency,Disease,Disorder,4A01.10,0014423,D81.1,615966,C4274221,,,
317430,Combined immunodeficiency due to STIM1 deficiency,Clinical subtype,Subtype of disorder,4A01.1Y,0013008,D81.8,612783,C2748557,,,10523
317473,Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency,Disease,Disorder,4A01.1Y,0014810,D81.8,616873,C5190826,,,
317476,XMEN,Disease,Disorder,4A01.1Y,0010455,D81.8,300853,C3275445,,,10907
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,,,
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,,,
314993,Cataract-congenital heart disease-neural tube defect syndrome,Malformation syndrome,Disorder,,0011995,Q87.8,608227,C4512052,,,
314978,X-linked non progressive cerebellar ataxia,Disease,Disorder,,0010404,G11.0,302500,C4707849,,,
314970,Lymphocytic hypereosinophilic syndrome,Clinical subtype,Subtype of disorder,BC43.20,0017835,D47.5,,C5396402,,,
314962,Secondary hypereosinophilic syndrome,Disease,Disorder,,0017834,D47.5,,C5679897,,,
314950,Primary hypereosinophilic syndrome,Disease,Disorder,,0017833,D47.5,,C5679898,,,
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,,,
314911,Severe Canavan disease,Clinical subtype,Subtype of disorder,5C50.E1,0017830,E75.2,271900,C5575558,,,
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,,,
316240,Autosomal recessive spastic ataxia,Category,Group of disorders,,0017847,,,C5679900,,,
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,,,
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,,,
314679,Cerebrofacioarticular syndrome,Malformation syndrome,Disorder,,0017813,Q87.8,615546,C1832390,C536530,,5456
314667,TMEM165-CDG,Disease,Disorder,,0013870,E77.8,614727,C3553571,,,12413
314689,Combined immunodeficiency due to STK4 deficiency,Disease,Disorder,,0013934,D81.8,614868,C4749922,,,
314684,Primary bone lymphoma,Disease,Disorder,,0017814,C85.7,,C1332582,,,
314652,Variant ABeta2M amyloidosis,Disease,Disorder,5D00.3,0017810,E85.1,105200,C4302669,,,
314647,Non-progressive cerebellar ataxia with intellectual disability,Disease,Disorder,,0013886,G11.0,614756,C4509917,,,
314662,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,Disease,Disorder,,0017812,Q87.3,,C5192432,,,
314655,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,Etiological subtype,Subtype of disorder,,0017811,Q93.5,616158,C4708510,,,
314629,CLN11 disease,Disease,Disorder,5C56.1,,E75.4,614706,C3539123,,,
314621,Duplication of the pituitary gland,Morphological anomaly,Disorder,,0017808,Q89.2,,C4755258,,,
314637,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,Disease,Disorder,5C53.2Y,0013865,E88.8,614702,C4749921,,,
314632,CLN12 disease,Disease,Disorder,5C56.1,0017809,E75.4,606693,C5230619,,,
314802,Short stature due to partial GHR deficiency,Disease,Disorder,,0011420,E34.3,604271,C5190814,,,
314811,Short stature due to GHSR deficiency,Disease,Disorder,5A61.0,0014403,E34.3,615925,C4707848,,,
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,,,
314777,Familial isolated pituitary adenoma,Disease,Disorder,2F37.Y,0017824,D35.2,617540,C2676191,C566321,,10959
314786,Silent pituitary adenoma,Histopathological subtype,Subtype of disorder,,0017825,D35.2,,,,,
314790,Null pituitary adenoma,Histopathological subtype,Subtype of disorder,,0017826,D35.2,,C5680967,,,
314795,SHOX-related short stature,Disease,Disorder,LD24.A,0010367,Q87.1,300582,C4706613,,,
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,,,
314718,Lethal arteriopathy syndrome due to fibulin-4 deficiency,Disease,Disorder,LA8B.2Y,0017818,Q28.8,614437,C5190604,,,
314721,Atypical dentin dysplasia due to SMOC2 deficiency,Clinical subtype,Subtype of disorder,,0017819,K00.5,125400,C5190802,,,
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,,,
370114,Combined cervical dystonia,Disease,Disorder,,,,,,,,
370109,Ataxia-telangiectasia variant,Disease,Disorder,,0018266,G11.3,208900,C1876175,C566865,,
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,,,
370097,Oculocutaneous albinism type 6,Disease,Disorder,EC23.20,0018264,E70.3,113750,C3805375,,,
370091,Oculocutaneous albinism type 5,Disease,Disorder,EC23.20,0014127,E70.3,615312,C3888401,,,
370396,Small cell carcinoma of the ovary,Disease,Disorder,,0003795,C56,,C2212006,,,10411
370348,Peripheral primitive neuroectodermal tumor,Disease,Disorder,,0018271,C71.9,612219,C0684337,D018241,,
370334,Extraskeletal Ewing sarcoma,Disease,Disorder,2B52.Y,0018270,C49.9,612219,C0279980,,10015759,
370131,White platelet syndrome,Disease,Disorder,3B62.0Y,0018269,D69.1,,C2931293,C536702,,9282
370046,Didymosis aplasticosebacea,Disease,Disorder,,0018259,Q84.8,,C4751600,,,
370034,Familial syringomyelia,Clinical subtype,Subtype of disorder,8D66,0018257,Q06.4,,C5680970,,,
370039,Angora hair nevus,Disease,Disorder,,0018258,Q82.5,,C4751601,,,
370022,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,Disease,Disorder,,0014419,G11.1,615960,C4014821,,,
370026,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,Disease,Disorder,,0018256,C92.0,,C4511003,,,
370015,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type",Disease,Disorder,LD24.3,0018254,Q77.8,618728,C5231478,,,
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
370076,Fetal carbamazepine syndrome,Malformation syndrome,Disorder,LD2F.0Y,0018263,Q86.8,,C0432370,,,
370079,Proximal 16p11.2 microduplication syndrome,Malformation syndrome,Disorder,,0013847,Q92.3,614671,C4707332,,,12388
370068,Fetal anticonvulsant syndrome,Clinical group,Group of disorders,,,,,C1739111,,10066485,
370052,SCALP syndrome,Disease,Disorder,,0018260,Q84.8,,C4751599,,,
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,,,
370997,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,Disease,Disorder,,0018280,G71.0,616538,C5191414,,,
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,,,
370924,STT3B-CDG,Disease,Disorder,5C54.0,0014271,E77.8,615597,C2931007,C535751,,
370927,SSR4-CDG,Disease,Disorder,5C54.0,0010490,E77.8,300934,C4012395,,,12405
370930,XYLT1-CDG,Disease,Disorder,5C54.1,0018273,E77.8,,C4750849,,,
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,,,
370968,Congenital muscular dystrophy with intellectual disability,Disease,Disorder,,0018278,G71.2,615351,C5190846,,,
370980,Congenital muscular dystrophy without intellectual disability,Disease,Disorder,,0018279,G71.2,613152,C5190847,,,
370933,GM3 synthase deficiency,Disease,Disorder,5C54.Y,0018274,E77.8,609056,,,,12059
370938,Salt-and-pepper syndrome,Disease,Disorder,,,,,,,,
370943,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,Disease,Disorder,5C54.0,0014248,Q87.8,615553,C4518080,,,
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,,,
369920,Pontocerebellar hypoplasia type 9,Malformation syndrome,Disorder,,0014351,Q04.3,615809,C4014354,,,
369942,CADDS,Disease,Disorder,,0018247,Q87.8,300475,C3806634,C564508,,12472
369939,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,Malformation syndrome,Disorder,,0010334,Q87.8,300475,C4749456,,,
369955,"Methylmalonic acidemia with homocystinuria, type cblJ",Clinical subtype,Subtype of disorder,5C50.E0,0013925,E71.1,614857,C3553915,,,
369950,Intellectual disability-seizures-macrocephaly-obesity syndrome,Disease,Disorder,,0018248,Q87.8,,C4749455,,,
369970,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,Disease,Disorder,9B61,0014195,Q15.8,615458,C4751602,,,
369962,"Methylmalonic acidemia with homocystinuria, type cblX",Clinical subtype,Subtype of disorder,5C50.E0,0010657,E71.1,309541,C0796208,,,
369979,Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,Malformation syndrome,Disorder,,0018249,Q87.2,,C5190599,,,
369992,Severe dermatitis-multiple allergies-metabolic wasting syndrome,Disease,Disorder,LD27.2,0014218,Q80.8,615508,C3809719,,,
370002,Focal palmoplantar keratoderma with joint keratoses,Disease,Disorder,,0018252,Q82.8,148700,C4755302,,,
369999,Diffuse palmoplantar keratoderma with painful fissures,Disease,Disorder,,0018250,Q82.8,148700,C4755309,,,
370010,Intellectual disability-facial dysmorphism-hand anomalies syndrome,Malformation syndrome,Disorder,,0018253,Q87.0,,C4750848,,,
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,,,
369840,TRAPPC11-related limb-girdle muscular dystrophy R18,Disease,Disorder,,0014144,G71.0,615356,C4517996,,,
369847,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,Disease,Disorder,,0018243,G25.5,,C5192595,,,
369852,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,Disease,Disorder,,0014118,D70,615285,C4755251,,,
369861,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,Disease,Disorder,3A72.01,0014487,D64.0,616084,C4707403,,,
369867,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,Disease,Disorder,,0014154,G60.0,615376,C4750846,,,
369873,Obesity due to SIM1 deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0018244,E66.8,,C5191050,,,
369881,2p21 microdeletion syndrome without cystinuria,Malformation syndrome,Disorder,,0018245,Q93.5,,C4749458,,,
369886,Homozygous 2p21 microdeletion syndrome,Clinical group,Group of disorders,,,,,C5679912,,,
369891,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,Malformation syndrome,Disorder,LD90.Y,14773,Q87.0,616789,C5192431,,,
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
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,,,
364063,Infantile epileptic-dyskinetic encephalopathy,Disease,Disorder,,0018226,G40.4,308350,C4552072,C567924,,
364055,Severe early-childhood-onset retinal dystrophy,Disease,Disorder,9B70,0009549,H35.5,,C1858080,C565741,,
364039,Hydroa vacciniforme-like lymphoma,Disease,Disorder,2B0Y,0018224,C84.5,,C1708397,,,
364043,ALK-positive large B-cell lymphoma,Disease,Disorder,2A81.8,0018225,C83.3,,C1333294,,,
364028,X-linked intellectual disability due to GRIA3 mutations,Disease,Disorder,LD90,0018222,F72,300699,C5191041,,,
364033,Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,Disease,Disorder,,0018223,D47.9,,C2699747,,,
772,Infantile Refsum disease,Disease,Disorder,5C57.1,0019174,G60.1,617370,C0282527,D052919,,4648
1194,TMEM70-related mitochondrial encephalo-cardio-myopathy,Disease,Disorder,5C53.2Y,0013546,G71.3,614052,C4273660,,,
363999,Non-immune hydrops fetalis,Clinical subtype,Subtype of disorder,KC41.1,0009369,P83.2,619369,C0455988,,,
1048,Isolated anencephaly/exencephaly,Morphological anomaly,Disorder,LA00.0,,Q04.8,206500,C5680972,,,5808
364013,Immune hydrops fetalis,Clinical subtype,Subtype of disorder,KA85.0,0018221,P56.0,,C0455990,,,
363989,Familial benign flecked retina,Disease,Disorder,9B70,0009235,H35.5,228980,C1856718,C565564,,
823,Spina bifida and other spinal dysraphisms,Category,Group of disorders,LA02,0019351,,601634,C5680973,D016135,10041524,7673
363992,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,Disease,Disorder,,0013176,Q87.8,615023,C5190986,,,
363976,Giant cell tumor of bone,Disease,Disorder,2F9B,0005674,D48.0,,C0206638,D018212,10005969,13046
363981,Charcot-Marie-Tooth disease type 4B3,Disease,Disorder,,0014117,G60.0,615284,C3695063,,,
363969,Autosomal recessive cerebral atrophy,Disease,Disorder,,0018218,G31.8,,C4755252,,,
363972,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,Malformation syndrome,Disorder,2A42.Y,0013308,C93.3,613563,C4016301,,,
363965,Koolen-De Vries syndrome due to a point mutation,Etiological subtype,Subtype of disorder,LD24.GY,0018217,Q87.8,610443,C5680974,,,
363958,17q21.31 microdeletion syndrome,Etiological subtype,Subtype of disorder,LD44.H0,0018216,Q93.5,610443,C1864871,C566476,,
363746,Balint syndrome,Clinical syndrome,Disorder,9C82.4,0018211,H51.8,,C4707368,,10057375,
363741,Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,Disease,Disorder,,0011145,Q87.8,601794,C4755253,,,
363727,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,Disease,Disorder,3A73,0010444,D64.4,300835,C5190600,,,
363722,Alexander disease type II,Clinical subtype,Subtype of disorder,,0018210,G93.8,203450,C5679914,,,
363717,Alexander disease type I,Clinical subtype,Subtype of disorder,8A44.2,0018209,G93.8,203450,C5769581,,,
363710,Spinocerebellar ataxia type 37,Disease,Disorder,8A03.16,0014410,G11.8,615945,C3889636,,,12368
363705,Craniofaciofrontodigital syndrome,Disease,Disorder,,0007259,Q87.0,114620,C2676032,C567298,,
363700,Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,Etiological subtype,Subtype of disorder,,0018208,Q85.0,162200,C5779636,,,
363694,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,Disease,Disorder,,0013458,E88.8,613845,C3151209,,,
363686,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,Disease,Disorder,,0014034,Q87.8,615074,C4750954,,,12815
363680,2p13.2 microdeletion syndrome,Malformation syndrome,Disorder,,0018207,Q93.5,,C4749460,,,
363677,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,Disease,Disorder,,0018206,G71.2,605637,C5192594,,,
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,,,
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,,,
363417,Temtamy preaxial brachydactyly syndrome,Malformation syndrome,Disorder,,0011533,Q87.2,605282,C1854466,C536958,,9679
363409,Fetal akinesia-cerebral and retinal hemorrhage syndrome,Disease,Disorder,,0014149,G71.2,615368,C4706410,,,
363412,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,Disease,Disorder,,0014115,E75.2,615281,C4755254,,,
363429,Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,Disease,Disorder,,0018189,G11.1,616204,C4706388,,,
363432,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,Clinical subtype,Subtype of disorder,,0014530,G11.1,616204,C4015505,,,
363424,Multiple mitochondrial dysfunctions syndrome type 3,Disease,Disorder,,0014132,E88.8,615330,C3809165,,,
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
363400,Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome,Disease,Disorder,,0014402,G31.8,615924,C4750956,,,
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,,,
363623,GMPPB-related limb-girdle muscular dystrophy R19,Disease,Disorder,,0014142,G71.0,615352,C4518000,,,
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
363654,X-linked parkinsonism-spasticity syndrome,Disease,Disorder,,0010482,G20,300911,C3806722,,,
363659,20q11.2 microduplication syndrome,Malformation syndrome,Disorder,,0018204,Q92.3,,C4706257,,,
363665,Acroosteolysis-keloid-like lesions-premature aging syndrome,Disease,Disorder,,0011150,E34.8,601812,C1866182,,,4276
363540,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,Disease,Disorder,,0014292,E75.2,615651,C4554120,,,
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,,,
363558,New-onset refractory status epilepticus,Disease,Disorder,,0018199,G41.8,,C4749462,,10087465,12244
363567,Acute encephalopathy with inflammation-mediated status epilepticus,Clinical group,Group of disorders,,,,,C5680984,,,
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,,,
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,,,
363523,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,Disease,Disorder,,0014131,Q82.8,615328,C3809160,,,
363534,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form",Disease,Disorder,5C53.20,0018197,E88.8,271245,C5190602,,,
363528,Intellectual disability-strabismus syndrome,Disease,Disorder,,0014119,H50.8,615286,C4750838,,,
363444,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0013362,Q87.0,613680,C3150939,,,
363454,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,Etiological subtype,Subtype of disorder,,0014121,G12.1,615290,C4747715,,,13222
363447,Autosomal dominant childhood-onset proximal spinal muscular atrophy,Disease,Disorder,8B61.Y,0018190,G12.1,615290,C1834690,,,
363478,Paratesticular adenocarcinoma,Disease,Disorder,,0018192,C63.0,,C5190800,,,
363472,Tumor of testis and paratestis,Category,Group of disorders,,,,,C5679920,,,
363489,Sex cord-stromal tumor of testis,Disease,Disorder,,0003125,D40.1,,C3840076,,,
363483,Testicular teratoma,Disease,Disorder,2C80.2,0018193,C62.9,273300,C0238451,C562472,10073120,
357175,Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,Malformation syndrome,Disorder,,0014067,Q87.8,615162,C4750957,,,
357329,Combined immunodeficiency due to IL21R deficiency,Disease,Disorder,,,D81.8,615207,C5191307,,,
357332,Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,Malformation syndrome,Disorder,,0014069,Q87.2,615170,C3554611,,,
357220,Primary essential cutis verticis gyrata,Disease,Disorder,EE7Y,0018167,Q82.8,,C4707327,,,
357225,Primary non-essential cutis verticis gyrata,Disease,Disorder,EE7Y,0018168,Q82.8,219300,C4755295,,,
357237,Combined immunodeficiency due to CARD11 deficiency,Disease,Disorder,,0014081,D81.2,615206,C5925010,,,
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,,,
356978,"D,L-2-hydroxyglutaric aciduria",Disease,Disorder,5C50.E1,0014072,E72.8,615182,C5574940,,,
356947,3q26q27 microdeletion syndrome,Malformation syndrome,Disorder,,0018156,,,C4755255,,,
356961,SLC35A2-CDG,Disease,Disorder,5C54.2,0010478,E77.8,300896,C3806688,,,12403
357008,Hemolytic uremic syndrome with DGKE deficiency,Disease,Disorder,3A10,18159,D58.8,615008,C5679921,,,
357001,19p13.13 microdeletion syndrome,Malformation syndrome,Disorder,,0013336,Q93.5,613638,C3150894,,,
356996,ANK3-related intellectual disability-sleep disturbance syndrome,Disease,Disorder,,14210,G93.8,615493,C5192596,,,
357043,Amyotrophic lateral sclerosis type 4,Disease,Disorder,8B60.0,0011223,G12.2,602433,C1865409,C566550,,
357034,Non-hereditary retinoblastoma,Clinical subtype,Subtype of disorder,2D02.2,0018161,C69.2,180200,C5680987,,,
357027,Hereditary retinoblastoma,Clinical subtype,Subtype of disorder,2D02.2,0018160,C69.2,180200,C0751483,,,
357074,"Autosomal recessive cutis laxa type 2, classic type",Clinical subtype,Subtype of disorder,,0009054,Q82.8,617402,C5679922,,,
357064,Autosomal recessive cutis laxa type 2B,Disease,Disorder,LD28.2,0013051,Q82.8,612940,C2751987,C567855,,1641
357058,Autosomal recessive cutis laxa type 2A,Disease,Disorder,LD28.2,0018163,Q82.8,278250,C0268355,C562632,,1638
357158,Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,Disease,Disorder,,0011255,Q87.0,602562,C4750958,,,
357154,Oral submucous fibrosis,Disease,Disorder,DA02.2,0018166,K13.5,,C0029172,D009914,10031023,7264
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,,,
352662,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,Disease,Disorder,9B6Y,0014089,Q82.8,615225,C4751001,,,
352657,Hereditary benign intraepithelial dyskeratosis,Disease,Disorder,DA02.0,0007486,Q82.8,127600,C0265966,C562551,,
352641,Autosomal recessive cerebellar ataxia with late-onset spasticity,Disease,Disorder,,0018129,G11.8,,C4706412,,,
352636,Phalangeal microgeodic syndrome,Disease,Disorder,FB86.2,0018128,M89.5,,C4749465,,,
352649,Brain dopamine-serotonin vesicular transport disease,Disease,Disorder,,0018130,G25.8,618049,C4303546,,,13594
352596,Progressive myoclonic epilepsy with dystonia,Disease,Disorder,,0018126,G40.3,615338,C4706413,,,
352629,16q24.1 microdeletion syndrome,Disease,Disorder,,0018127,Q93.5,,C4749464,,,
352613,Male infertility due to NANOS1 mutation,Disease,Disorder,,,,,,,,
352577,Bainbridge-Ropers syndrome,Disease,Disorder,,0014205,Q87.0,615485,C4750837,C000726367,,13259
352587,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,Disease,Disorder,,0018125,Q04.8,605021,C4707306,,,
352582,Familial infantile myoclonic epilepsy,Disease,Disorder,,0011506,G40.3,618364,C0917800,,,
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
352734,Minimal pigment oculocutaneous albinism type 1,Clinical subtype,Subtype of disorder,EC23.20,0018136,E70.3,,C5679923,,,
352737,Temperature-sensitive oculocutaneous albinism type 1,Clinical subtype,Subtype of disorder,EC23.20,0018137,E70.3,606952,C1847132,C564645,,
352709,CLN13 disease,Disease,Disorder,5C56.1,0014147,E75.4,615362,C3715049,,,
352712,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,Disease,Disorder,,0014058,Q87.1,615139,C4749948,,,
352718,Progressive retinal dystrophy due to retinol transport defect,Disease,Disorder,9B70,0014060,H35.5,615147,C4751000,,,
352723,Attenuated Chédiak-Higashi syndrome,Disease,Disorder,,0018133,E70.3,,C4304022,,,
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,,,
352670,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,Disease,Disorder,8C20.2,0014074,G60.0,615185,C4749463,,,
352675,X-linked Charcot-Marie-Tooth disease type 6,Disease,Disorder,,0010479,G60.0,300905,C3806702,,,
352682,Cobblestone lissencephaly without muscular or ocular involvement,Disease,Disorder,,0014077,Q04.3,617255,C5191415,,,
353277,Rubinstein-Taybi syndrome due to CREBBP mutations,Etiological subtype,Subtype of disorder,,0008393,Q87.2,180849,C5681840,,,
353253,Burning mouth syndrome,Disease,Disorder,DA0F.0,0006687,K14.6,,C0006430,D002054,10068065,5974
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,,,
353217,Epileptic encephalopathy with global cerebral demyelination,Disease,Disorder,5C53.30,0013056,E88.8,612949,C4512050,,,
352763,Scleredema,Disease,Disorder,EE7Y,6606,M34.8,,C0036413,,10055953,5975
352745,Oculocutaneous albinism type 7,Disease,Disorder,EC23.20,0014070,E70.3,615179,C3808786,,,
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,,,
353351,Idiopathic macular telangiectasia type 3,Disease,Disorder,9B75.3,0018147,H35.0,,C4751436,,,
353334,Congenital retinal arteriovenous communication,Morphological anomaly,Disorder,,0018145,Q14.1,,C0521570,,10038824,
353320,"Pyruvate carboxylase deficiency, benign type",Clinical subtype,Subtype of disorder,5C53.03,0018143,E74.4,266150,C5679927,,,
353327,Congenital myasthenic syndrome with glycosylation defect,Etiological subtype,Subtype of disorder,8C61,,G70.2,616228,C5680989,,,
353308,"Pyruvate carboxylase deficiency, infantile type",Clinical subtype,Subtype of disorder,5C53.03,0018141,E74.4,266150,C5679928,,,
353314,"Pyruvate carboxylase deficiency, severe neonatal type",Clinical subtype,Subtype of disorder,5C53.03,0018142,E74.4,266150,C5679929,,,
353298,Roifman syndrome,Disease,Disorder,4A01.32,0014722,Q77.7,616651,C1846059,C535866,,9163
353281,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,Etiological subtype,Subtype of disorder,LD44.G1,0012519,Q87.2,610543,C1864648,,,10754
353284,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,Etiological subtype,Subtype of disorder,,0013364,Q87.2,613684,C3150941,,,
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,,,
352333,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,Disease,Disorder,,0013760,Q80.8,614457,C3280856,,,
352328,MEGDEL syndrome,Disease,Disorder,,0013875,E71.1,614739,C4040739,,,12963
352447,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,Disease,Disorder,,0014039,G71.3,615084,C4707098,,,
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,,,
352563,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,Disease,Disorder,5C53.2Y,0014162,E88.8,615395,C4749946,,,12892
352540,Oncogenic osteomalacia,Disease,Disorder,FB80.Y,0018124,M83.8,,C1274103,C537751,,9652
352479,ISPD-related limb-girdle muscular dystrophy R20,Disease,Disorder,,0014474,G71.0,616052,C5190987,,,
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,,,
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,,,
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,,
294422,Chronic intestinal failure,Clinical syndrome,Disorder,DA96.05,0017418,K63.8,,C4274352,,,
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
294016,Microcephaly-capillary malformation syndrome,Malformation syndrome,Disorder,LD2F.1Y,0013659,Q87.8,614261,C3280296,,,
294023,Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome,Disease,Disorder,4A6Y,0017411,D84.8,614328,C4751120,,,
294026,Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,Malformation syndrome,Disorder,,0013363,Q92.3,613681,C5190993,,,
293964,Hypoinsulinemic hypoglycemia and body hemihypertrophy,Disease,Disorder,5A4Y,0009416,Q87.3,240900,C4751124,,,
293967,Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,Malformation syndrome,Disorder,,0017406,Q87.8,,C4751123,,,
293978,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,Disease,Disorder,4A01.0Y,0017407,E23.0,615577,C4751122,,,
293958,Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,Malformation syndrome,Disorder,,0013614,Q87.8,614187,C4751125,,,
293955,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,Disease,Disorder,,0013761,G96.8,614458,C4751138,,,13571
293948,1p21.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.11,0017405,Q93.5,,C4304578,,,
293939,Distal Xq28 microduplication syndrome,Malformation syndrome,Disorder,,0017404,Q99.8,300815,C4751127,,,
293936,EDICT syndrome,Disease,Disorder,9B3Y,0013678,H18.6,614303,C3280392,,,
293925,Lethal occipital encephalocele-skeletal dysplasia syndrome,Malformation syndrome,Disorder,,0013740,Q87.5,614416,C4751129,,,
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",Clinical subtype,Subtype of disorder,BC43.6,0017403,I42.8,107970,C5925015,,,
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",Clinical subtype,Subtype of disorder,BC43.6,0017402,I42.8,610193,C5925016,,,
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",Clinical subtype,Subtype of disorder,BC43.6,0017401,I42.8,610193,C5925017,,,
293864,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,Malformation syndrome,Disorder,LB2Y,0017400,Q45.8,615710,C4751130,,,5237
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
293830,Constitutional dyserythropoietic anemia,Category,Group of disorders,,,,,C5680998,,,
293822,MITF-related melanoma and renal cell carcinoma predisposition syndrome,Disease,Disorder,,0013759,C43.9,614456,C4749577,,,
293825,Congenital dyserythropoietic anemia type IV,Disease,Disorder,3A73,0013355,D64.4,613673,C3150926,,,
293812,Fixed drug eruption,Disease,Disorder,EH66,0017395,L25.1,,C0221242,,10016740,
293815,Toxic dermatosis,Category,Group of disorders,,0017396,,,C5680999,,,
293807,Ketamine-induced biliary dilatation,Disease,Disorder,NE60,0017394,X44,,C4512018,,,
293725,"Blepharophimosis-intellectual disability syndrome, Verloes type",Malformation syndrome,Disorder,,0011432,Q87.8,604314,C4755262,,,
293642,Blepharophimosis-intellectual disability syndrome,Clinical group,Group of disorders,,0017393,,,C5229849,,,10892
293707,"Blepharophimosis-intellectual disability syndrome, MKB type",Malformation syndrome,Disorder,,0010477,Q87.8,300895,C3698541,,,
293633,PYCR1-related De Barsy syndrome,Etiological subtype,Subtype of disorder,,0013755,Q87.8,614438,C3280799,,,
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
295047,Macrodactyly of toes,Morphological anomaly,Disorder,LB97.1,0017475,Q74.2,155500,C0158768,,,6951
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
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
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
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,
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
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
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,,,
289877,Transient hyperammonemia of the newborn,Particular clinical situation in a disease or syndrome,Disorder,5C50.AY,0017357,P74.8,,C0268549,,,
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,,,
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,,,
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,,,
289860,Infantile glycine encephalopathy,Clinical subtype,Subtype of disorder,5C50.70,0017354,E72.5,605899,C5548209,,,
289846,Glutathione synthetase deficiency with 5-oxoprolinuria,Clinical subtype,Subtype of disorder,3A10.0Y,0009947,D55.1,266130,C5848078,,,
289849,Glutathione synthetase deficiency without 5-oxoprolinuria,Clinical subtype,Subtype of disorder,3A10.0Y,0009284,D55.1,231900,C1856399,,,
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
289560,Mitochondrial membrane protein-associated neurodegeneration,Disease,Disorder,5C64.10,0013674,G23.0,614298,C3280371,,,12569
289553,Dysmorphism-conductive hearing loss-heart defect syndrome,Malformation syndrome,Disorder,,0014044,Q87.8,615102,C3554774,,,
289548,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,Disease,Disorder,5A74.Y,0017337,E27.1,613743,C4707238,,,
289539,BAP1-related tumor predisposition syndrome,Disease,Disorder,,0013692,D23.9,614327,C4707290,,,13219
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
289596,Juvenile nasopharyngeal angiofibroma,Disease,Disorder,2E90.6,0017340,D10.6,,C1367536,,,
289586,Exfoliative ichthyosis,Disease,Disorder,EC20.02,0017339,Q80.8,617115,C1838440,C563978,,
293355,Methylmalonic acidemia without homocystinuria,Clinical group,Group of disorders,,,,,C5848400,,,
293375,Grayson-Wilbrandt corneal dystrophy,Disease,Disorder,9A70.Y,0017391,H18.5,,C4305579,,,
293381,Epithelial recurrent erosion dystrophy,Disease,Disorder,9A70.Y,0007381,H18.5,122400,C1852551,C565155,,
293462,Pre-Descemet corneal dystrophy,Disease,Disorder,9A70.Y,0017392,H18.5,,C0339282,,,
293603,Congenital hereditary endothelial dystrophy type II,Disease,Disorder,9A70.0,0009019,H18.5,217700,C1857569,C536439,,6196
293621,X-linked endothelial corneal dystrophy,Disease,Disorder,9A70.0,0010426,H18.5,300779,C2749049,C567587,,
811,Shwachman-Diamond syndrome,Disease,Disorder,3A70.0,0009833,D61.0,617941,C0272170,D000081003,10067940,4863
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,,,
741,Familial mitral valve prolapse,Morphological anomaly,Disorder,LA87.1Y,0008004,I34.1,610840,C0340364,,,3687
293144,Familial clubfoot due to 5q31 microdeletion,Etiological subtype,Subtype of disorder,LB98.Y,0017382,Q66.8,119800,C5679944,,,
293168,Infantile-onset ascending hereditary spastic paralysis,Disease,Disorder,,0011797,G12.2,607225,C2931441,C537217,,4914
293165,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,Disease,Disorder,,0011882,Q82.8,,C4755263,,,5231
428,Autosomal dominant hypocalcemia,Clinical subtype,Subtype of disorder,5A50.0Y,0018543,E20.8,615361,C4048195,,,2877
293181,Epilepsy of infancy with migrating focal seizures,Disease,Disorder,8A61.12,0017385,G40.0,616645,C3494976,,10086114,12919
2298,Insulin-resistance syndrome type B,Disease,Disorder,5A44,0016464,E34.8,,C0342337,,,3009
293173,Acute generalized exanthematous pustulosis,Disease,Disorder,,0017384,L27.0,,C0877055,D056150,10048799,
2207,Familial primary hyperparathyroidism,Clinical group,Group of disorders,,0016365,,,C0271846,,,
293199,Pleomorphic rhabdomyosarcoma,Clinical subtype,Subtype of disorder,,0017386,C49.9,,C0334480,,,
393,"46,XX testicular difference of sex development",Malformation syndrome,Disorder,LD2A.Y,0100249,Q99.1,400045,C2936419,D058531,10087158,399
293190,OBSOLETE: Pleomorphic undifferentiated sarcoma,Disease,Disorder,,,,,,,,
293202,Epithelioid sarcoma,Disease,Disorder,2B5F.2,0017387,C49.9,,C0205944,,10015099,10181
293284,Tetrahydrobiopterin-responsive phenylketonuria,Clinical subtype,Subtype of disorder,,0017389,E70.1,261600,C5679945,,,
293208,Celiac artery compression syndrome,Disease,Disorder,BD52.5,0017388,I77.4,,C1861783,,10009838,12308
2459,Mansonelliasis,Disease,Disorder,1F66.1,0005838,B74.4,,C0024759,D008368,10089224,8216
2404,Loiasis,Disease,Disorder,1F66.0,0016566,B74.3,,C0023968,D008118,10024797,3283
2394,Pyruvate dehydrogenase E3 deficiency,Clinical subtype,Subtype of disorder,5C53.02,0009529,E74.4,246900,,,,3263
2356,Arachnoid cyst,Morphological anomaly,Disorder,8D67,0008813,G93.0,207790,C0078981,D016080,10049005,17
829,Adult-onset Still disease,Disease,Disorder,FA23,0019355,M06.1,,C0085253,D016706,10064056,436
3096,Reye syndrome,Disease,Disorder,8E46,0005942,G93.7,,C0035400,D012202,10039012,7570
1929,Rasmussen subacute encephalitis,Disease,Disorder,8A62.Y,0016019,G04.8,,C2930868,C535291,10071141,
1183,Opsoclonus-myoclonus syndrome,Disease,Disorder,9C85.02,0015247,G25.3,,C0393626,D053578,10053854,10009
2688,Adult idiopathic neutropenia,Disease,Disorder,4B00.01,0011922,D70,607847,C5191335,,,
2686,Cyclic neutropenia,Disease,Disorder,4B00.00,0008090,D70,162800,C0221023,C536227,10053176,6229
890,Hepatic veno-occlusive disease,Disease,Disorder,DB98.6,0019514,K76.5,,C0019156,D006504,10047216,13004
176,Non-rhizomelic chondrodysplasia punctata,Clinical group,Group of disorders,,0015775,,,C5681009,,,
231,Dracunculiasis,Disease,Disorder,1F64,0016472,B72,,C0013100,D004320,10013618,6286
2035,Lymphatic filariasis,Disease,Disorder,1F66.30,,B74.2,,C0013884,,10016675,3321
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
284454,Acute zonal occult outer retinopathy,Disease,Disorder,9B65.0,0017298,H35.0,,C0730298,,,8640
284460,Acute annular outer retinopathy,Disease,Disorder,9B71.Y,0017299,H35.8,,C5191002,,,
284414,"Glycerol kinase deficiency, adult form",Clinical subtype,Subtype of disorder,5C51.1,0017296,E74.8,307030,C5681013,,,
284417,"Phosphoserine aminotransferase deficiency, infantile/juvenile form",Etiological subtype,Subtype of disorder,,,E72.8,610992,C1970253,,,13273
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
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
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,,,
284963,Marfan syndrome type 1,Clinical subtype,Subtype of disorder,LD28.01,,Q87.4,154700,C4721845,,,
284984,Aneurysm-osteoarthritis syndrome,Disease,Disorder,LD28.0Y,0013426,Q87.8,613795,C4760764,,,10997
284979,Neonatal Marfan syndrome,Disease,Disorder,LD28.0Y,0017309,Q87.4,,C4016054,,,
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,,,
289347,Infective dermatitis associated with HTLV-1,Disease,Disorder,EA88.00,0017326,L30.3,,C4274291,,,
289356,Primary non-gestational choriocarcinoma of ovary,Disease,Disorder,2C73.Y,0017327,C56,,C4274424,,,
289377,Early-onset myopathy with fatal cardiomyopathy,Disease,Disorder,8C7Y,0012714,G71.8,611705,C2673677,C567129,,
289380,Myosclerosis,Disease,Disorder,8C72.1,0009714,G71.8,255600,C1850671,C564968,10064584,
289290,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,Disease,Disorder,5C50.B,,E72.1,614300,C4706555,,,
289266,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,Disease,Disorder,8A61.2Y,0017325,E72.1,245570,C4749281,,,
289326,Tropical spastic paraparesis,Disease,Disorder,8A45.00,0008039,G04.1,159580,C0030481,D015493,10044696,8208
289307,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,Disease,Disorder,5C50.E0,0013579,E71.1,614105,C5190633,,,
289504,Combined malonic and methylmalonic acidemia,Disease,Disorder,,0013661,E71.1,614265,C3280314,C580002,,10818
289499,Congenital cataract microcornea with corneal opacity,Malformation syndrome,Disorder,9B3Y,0010015,Q12.0,269400,C5779991,,,
289494,4H leukodystrophy,Disease,Disorder,8A44.Z,,G37.8,,C5679947,,,
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,,,
289513,12q15q21 microdeletion syndrome,Etiological subtype,Subtype of disorder,,0017334,Q93.5,618608,C4518344,,,
289465,Isolated congenital adermatoglyphia,Disease,Disorder,,0007619,Q82.8,136000,C4706567,,,12550
289395,NON RARE IN EUROPE: Secondary Sjögren syndrome,Disease,Disorder,,,,,,,,
289390,Primary Sjögren disease,Disease,Disorder,4A43.20,0010030,M35.0,270150,C0151449,,,10252
289385,Malignancy diagnosed during pregnancy,Particular clinical situation in a disease or syndrome,Disorder,JB64.Y,0017330,O99.8,,C5679948,,,
289483,Intellectual disability-alacrima-achalasia syndrome,Disease,Disorder,,0010460,H04.8,300858,C4706563,,,
289478,PASH syndrome,Disease,Disorder,,0017332,D89.8,,C5191642,,10084535,
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,
289157,Hypocalcemic vitamin D-dependent rickets,Disease,Disorder,5C63.20,0009924,E55.0,600081,C0268689,,,
280926,Systemic diseases with anterior uveitis,Category,Group of disorders,,,,,C5681018,,,
280921,Idiopathic panuveitis,Disease,Disorder,9C20.0,0017258,H44.1,,C4707884,,,
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
280892,Posterior uveitis,Category,Group of disorders,,0001280,,,C0042167,D015866,10036370,4457
280886,Anterior uveitis,Category,Group of disorders,9A96,0006651,,,C0042165,D014606,10002709,10941
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,,,
281090,Syndromic recessive X-linked ichthyosis,Disease,Disorder,,0017264,Q80.1,308100,C4274085,,,
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,
281217,Autosomal ichthyosis syndrome,Category,Group of disorders,,,,,C5681023,,,
281190,Congenital reticular ichthyosiform erythroderma,Disease,Disorder,EC20.0Y,0012208,Q80.8,609165,C3665704,,,
281201,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,Disease,Disorder,EC20.0Y,0011169,Q82.8,601952,C1866029,C566600,,
281139,Annular epidermolytic ichthyosis,Disease,Disorder,EC20.03,0011870,Q80.3,607602,C1843463,,,
281122,Self-improving collodion baby,Disease,Disorder,EC20.02,0017267,Q80.2,606545,C1855789,C565473,,
281127,Acral self-healing collodion baby,Disease,Disorder,EC20.02,0017268,Q80.2,242300,C4305324,,,
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,,,
280633,Multiple congenital anomalies-hypotonia-seizures syndrome,Malformation syndrome,Disorder,,0013563,Q87.8,614080,C5191419,,,12781
280615,Low oxygen affinity gamma chain hemoglobin disease,Etiological subtype,Subtype of disorder,3A50.4,0017238,D58.2,613977,C5190689,,,
280598,Hereditary sensorimotor neuropathy with hyperelastic skin,Disease,Disorder,8C20.0,0017237,G60.0,608895,C5190690,,,11010
280620,Progressive myoclonic epilepsy type 6,Disease,Disorder,8A61.41,0013526,G40.3,614018,C5190805,,,3872
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
280640,Occipital pachygyria and polymicrogyria,Malformation syndrome,Disorder,,0013583,Q04.3,614115,C5190688,,,
280654,Autosomal recessive nail dysplasia,Disease,Disorder,,0029051,Q84.6,161050,C5190687,,,
280651,OBSOLETE: Acrodysostosis with multiple hormone resistance,Disease,Disorder,,,,,,,,
280779,Cutaneous collagenous vasculopathy,Disease,Disorder,EF20.Y,0017242,L98.8,,C4305323,,,12428
280785,Bullous diffuse cutaneous mastocytosis,Clinical subtype,Subtype of disorder,2A21.1Y,0017243,Q82.2,,C5546764,,,
280794,Pseudoxanthomatous diffuse cutaneous mastocytosis,Clinical subtype,Subtype of disorder,2A21.1Y,0017244,Q82.2,,C5679949,,,
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,,,
280763,Severe intellectual disability and progressive spastic paraplegia,Disease,Disorder,,,G11.4,614066,C4755264,,,10999
280774,Generalized essential telangiectasia,Disease,Disorder,EF20.4,0008534,L98.8,,C0473555,C562998,,
280840,Congenital pulmonary airway malformation type 2,Clinical subtype,Subtype of disorder,LA75.4,0017250,Q33.0,,C5437761,,,
280847,Congenital pulmonary airway malformation type 3,Clinical subtype,Subtype of disorder,LA75.4,0017251,Q33.0,,C5437762,,,
280854,Congenital pulmonary airway malformation type 4,Clinical subtype,Subtype of disorder,LA75.4,0017252,Q33.0,,C5437760,,,
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,,,
280832,Congenital pulmonary airway malformation type 1,Clinical subtype,Subtype of disorder,LA75.4,0017249,Q33.0,,C5437763,,,
284149,Craniosynostosis-dental anomalies,Malformation syndrome,Disorder,,0013615,Q87.0,614188,C3280073,,,
284139,"Larsen-like syndrome, B3GAT3 type",Malformation syndrome,Disorder,LD24.E,0009511,Q74.8,245600,C4706575,,,
284180,Xp22.13p22.2 duplication syndrome,Malformation syndrome,Disorder,LD51,0017284,Q99.8,,C5190686,,,
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,,,
284160,8q21.11 microdeletion syndrome,Malformation syndrome,Disorder,LD44.80,0013646,Q93.5,614230,C4305343,,,
284247,Familial retinal arterial macroaneurysm,Malformation syndrome,Disorder,9B7Y,0013640,H35.0,614224,C3280205,,,12779
284232,Autosomal dominant Charcot-Marie-Tooth disease type 2O,Disease,Disorder,8C20.1,0013644,G60.0,614228,C3280220,,,
284227,TEMPI syndrome,Clinical syndrome,Disorder,2A83.Y,0017286,D47.2,,C3854394,,10075076,10962
284271,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,Disease,Disorder,,0013645,G11.1,614229,C5190803,,,
284264,IgG4-related disease,Clinical group,Group of disorders,4A43.0,,,,C3203653,D000077733,10071569,12521
284324,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,Disease,Disorder,,0012235,G11.1,609270,C1836474,C563753,,12232
284282,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,Disease,Disorder,,0013687,G11.1,614322,C3280452,,,
284289,Adult-onset autosomal recessive cerebellar ataxia,Disease,Disorder,,0013392,G11.2,613728,C3150998,,,
284343,DICER1 tumor-predisposition syndrome,Disease,Disorder,,0100216,C34.8,601200,C3839822,,,10734
284332,Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,Disease,Disorder,,0011950,G11.0,608029,C1842676,C537312,,4954
284339,Pontocerebellar hypoplasia type 7,Malformation syndrome,Disorder,,0013993,Q04.3,614969,C3554226,,,
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
284362,Fetal lung interstitial tumor,Clinical subtype,Subtype of disorder,LA75.Y,0017289,D14.3,,C5679952,,,
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,,,
284395,Well-differentiated fetal adenocarcinoma of the lung,Disease,Disorder,2C25.0,0017292,C34.8,,C3873372,,,
284400,Small cell carcinoma of the bladder,Disease,Disorder,2C13.Y,4114,C67.0,,C1332564,,,11923
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,,,
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
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,,
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
309796,Rhizomelic chondrodysplasia punctata type 2,Etiological subtype,Subtype of disorder,LD24.04,0009112,Q77.3,222765,C1857242,C537607,,
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,,,
314022,Gastric adenocarcinoma and proximal polyposis of the stomach,Disease,Disorder,2B72.0,0017790,C16.9,619182,C1868001,,,
314017,Idiopathic linear interstitial keratitis,Disease,Disorder,9A7Y,0017789,H16.3,,C4751438,,,
314002,Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,Malformation syndrome,Disorder,,0017788,Q87.8,,C4751075,,,
313947,2q23.1 microduplication syndrome,Malformation syndrome,Disorder,,0017786,Q92.3,156200,C4707847,,,
313936,PENS syndrome,Disease,Disorder,,0017785,Q82.5,,C4749916,,,13447
313920,Epstein-Barr virus-associated gastric carcinoma,Disease,Disorder,2B72.Y,0017784,C16.0,,C4274414,,,
313906,Congenital pancreatic cyst,Morphological anomaly,Disorder,LB21.Y,0017783,Q45.2,,C0341480,,,
313892,Developmental and speech delay due to SOX5 deficiency,Clinical subtype,Subtype of disorder,,0017782,Q87.8,616803,C4749915,,,
313884,12p12.1 microdeletion syndrome,Clinical subtype,Subtype of disorder,,0017781,Q93.5,616803,C4755260,,,
313855,FGFR2-related bent bone dysplasia,Disease,Disorder,LD24.C,0013815,M85.8,614592,C4755261,,,10965
313850,Infantile cerebellar-retinal degeneration,Disease,Disorder,,0013802,E88.8,614559,C3281192,,,13264
313846,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,Disease,Disorder,,0013806,C10.9,614564,C5190630,,,
313838,Coats plus syndrome,Disease,Disorder,,0012815,H35.0,612199,C2677299,C567401,,
313800,Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,Disease,Disorder,9B70,0013999,H35.8,614979,C4749914,,,
313808,Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,Disease,Disorder,,0800027,G93.4,221820,C3711381,C580150,,10981
313781,20p13 microdeletion syndrome,Malformation syndrome,Disorder,,0017780,Q93.5,,C4750789,,,
313795,Jawad syndrome,Malformation syndrome,Disorder,,0009622,Q87.8,251255,C0796063,C567101,,
313772,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,Disease,Disorder,,0013776,G11.4,614487,C3280977,,,
314603,Autosomal recessive spastic ataxia with leukoencephalopathy,Disease,Disorder,,0012664,E88.8,611390,C1969645,C566956,,
314597,Chudley-McCullough syndrome,Malformation syndrome,Disorder,,0011411,Q04.8,604213,C1858695,C535459,,86
314613,Growing teratoma syndrome,Particular clinical situation in a disease or syndrome,Disorder,,0017807,D48.7,,C3891714,,10085759,
314575,Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,Malformation syndrome,Disorder,,0017805,Q87.8,,C4751073,,,
314572,Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,Disease,Disorder,,0017804,I67.8,,C4749919,,,
314588,Distal triplication 15q syndrome,Etiological subtype,Subtype of disorder,,0013918,Q99.8,614846,C3553858,,,
314585,15q overgrowth syndrome,Malformation syndrome,Disorder,LD2C,0017806,Q87.3,614846,C4749920,,,
314485,Young adult-onset distal hereditary motor neuropathy,Disease,Disorder,,,G12.2,614881,C4749918,,,
314566,Primary progressive apraxia of speech,Disease,Disorder,,0017803,G31.8,,C5848171,,,
314555,Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,Malformation syndrome,Disorder,,12634,Q87.5,611174,C1970027,C566988,,
314466,Atypical Meigs syndrome,Clinical syndrome,Disorder,,0017801,D27,,C5190605,,,
314459,Pseudo-Meigs syndrome,Clinical syndrome,Disorder,,0017800,D39.1,,C5190824,,,
314478,Ovarian fibrothecoma,Disease,Disorder,2F32.Y,0017802,D27,,C4707356,,,
314473,Ovarian fibroma,Disease,Disorder,2F32.1,0008168,D27,,C0149951,C562391,10064257,
314422,Ameloblastic carcinoma,Disease,Disorder,2B5J,0006079,C41.1,,C1314678,,10083863,11855
314425,Rare odontogenic tumor,Category,Group of disorders,,,,,C5681049,,,
314432,Spigelian hernia-cryptorchidism syndrome,Malformation syndrome,Disorder,,0017798,K43.6,,C4751074,,,
314451,Meigs syndrome,Clinical syndrome,Disorder,2F32.2,0017799,D27,,C0025184,D008539,10027139,
314394,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,Disease,Disorder,LD24.Y,0013894,Q87.1,614813,C3542022,,,
314399,Autosomal dominant aplasia and myelodysplasia,Disease,Disorder,3A70.0,0013851,D61.0,614675,C4755259,,,
314404,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,Disease,Disorder,,0011397,G11.2,604121,C4302668,,,12372
314419,Ameloblastoma,Disease,Disorder,2E83.1,0017795,D16.4,,C0002448,D000564,10066796,5747
314373,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,Disease,Disorder,DA90.Y,0013825,P78.3,614616,C5191644,,,
314376,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,Disease,Disorder,KB87.Y,0013843,P76.0,614665,C4518781,,,
314381,Hereditary sensory and autonomic neuropathy type 6,Disease,Disorder,,0013839,G60.8,614653,C3539003,,,
314389,Xq12-q13.3 duplication syndrome,Malformation syndrome,Disorder,,0017794,Q99.8,,C4707094,,,
314034,7p22.1 microduplication syndrome,Malformation syndrome,Disorder,,0017792,Q92.3,,C4707093,,,
314041,Marfanoid habitus-inguinal hernia-advanced bone age syndrome,Malformation syndrome,Disorder,,0017793,Q87.8,,C5190606,,,
314051,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,Disease,Disorder,,0013971,E88.8,614924,C4706421,,,12893
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,
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
306669,Hemiparkinsonism-hemiatrophy syndrome,Disease,Disorder,8A00.21,0017636,G20,,C4545231,,,
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,,,
306686,Delayed encephalopathy due to carbon monoxide poisoning,Disease,Disorder,8D43.0Y,,G21.2,,C0393565,,,
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,,,
306734,"Primary dystonia, DYT21 type",Disease,Disorder,,0013813,G24.1,614588,C3281236,,,
306731,Sydenham chorea,Particular clinical situation in a disease or syndrome,Disorder,1B42,0017648,I02.9,,C0152113,,10042732,7716
308166,Erythrokeratoderma variabilis progressiva,Clinical group,Group of disorders,,0017681,,,C5681068,,,10923
308380,Methylcobalamin deficiency type cblDv1,Clinical subtype,Subtype of disorder,5C50.B,0017683,E72.1,277410,C5679956,,,
308386,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,Etiological subtype,Subtype of disorder,5C50.B,0009643,E72.1,252150,C5679957,,,
308393,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,Etiological subtype,Subtype of disorder,5C50.B,0009644,E72.1,252160,C1854989,C565373,,
308400,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,Etiological subtype,Subtype of disorder,5C50.B,0014212,E72.1,615501,C1854990,C565374,,
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,,,
308425,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,Disease,Disorder,5C50.E0,0009615,E71.1,251120,C4707328,,,
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
307804,Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5679960,,,
307773,Autosomal dominant diffuse mutilating palmoplantar keratoderma,Clinical group,Group of disorders,,,,,C5679961,,,
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,,
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,,,
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,,,
308031,Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5679967,,,
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,,
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,,,
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,,
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,,,
309111,Combined pancreatic lipase-colipase deficiency,Disease,Disorder,5C62,0017712,K90.3,614338,C4706317,,,
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,,,
309108,Pancreatic colipase deficiency,Disease,Disorder,5C62,0017711,K90.3,614338,C0268241,,,
309025,Mevalonate kinase deficiency,Disease,Disorder,5C52.10,0017708,E88.8,260920,C0342731,D054078,10072221,
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
309020,Familial apolipoprotein C-II deficiency,Etiological subtype,Subtype of disorder,5C80.1,0008810,E78.3,207750,C0268199,,,759
308487,Generalized galactose epimerase deficiency,Clinical subtype,Subtype of disorder,5C51.4Y,0017692,E74.2,230350,C0574089,,,
178,Chordoma,Disease,Disorder,2B5J,0008978,C76.7,215400,C0008487,D002817,10008747,1303
308473,Erythrocyte galactose epimerase deficiency,Clinical subtype,Subtype of disorder,5C51.4Y,0017691,E74.2,230350,C0574090,,,
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
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
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,,,
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,,
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,,,
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,,,
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,,,
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,,,
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,,,,
309288,"Alpha-mannosidosis, adult form",Clinical subtype,Subtype of disorder,5C56.21,0017733,E77.1,248500,C5679974,,,
309246,"GM2 gangliosidosis, AB variant",Disease,Disorder,5C56.00,0010099,E75.0,272750,C0268275,,,
309252,Atypical Gaucher disease due to saposin C deficiency,Clinical subtype,Subtype of disorder,5C56.0Y,0012517,E75.2,610539,C1864651,C566435,,
309256,"Metachromatic leukodystrophy, late infantile form",Clinical subtype,Subtype of disorder,5C56.02,0017729,E75.2,250100,C0751278,,,
309263,"Metachromatic leukodystrophy, juvenile form",Clinical subtype,Subtype of disorder,5C56.02,0009591,E75.2,250100,C0751276,,,
309324,"Free sialic acid storage disease, infantile form",Clinical subtype,Subtype of disorder,5C56.4,0010027,E77.8,269920,C1096902,,10067532,175
309331,Intermediate severe Salla disease,Clinical subtype,Subtype of disorder,5C56.4,0017737,E77.8,604369,C5681076,,,
309334,Salla disease,Clinical subtype,Subtype of disorder,,0011449,E77.8,604369,C1096903,,10067531,
309337,Lysosomal glycogen storage disease,Category,Group of disorders,,0017738,,,C5681077,,,
309294,Sialidosis,Clinical group,Group of disorders,5C56.21,0017734,,,C0268226,,10058800,
309297,Mucopolysaccharidosis type 4A,Clinical subtype,Subtype of disorder,5C56.32,0009659,E76.2,253000,C0086651,,,3785
309310,Mucopolysaccharidosis type 4B,Clinical subtype,Subtype of disorder,5C56.32,0009660,E76.2,253010,C0086652,,,3786
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
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,,,
309178,"Tay-Sachs disease, infantile form",Clinical subtype,Subtype of disorder,5C56.00,0017724,E75.0,272800,C5925031,,,
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,,,
309155,"Sandhoff disease, infantile form",Clinical subtype,Subtype of disorder,5C56.00,0017721,E75.0,268800,C0751490,,,
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,,,
309162,"Sandhoff disease, juvenile form",Clinical subtype,Subtype of disorder,5C56.00,0017722,E75.0,268800,C0751491,,,
300547,Autosomal recessive infantile hypercalcemia,Disease,Disorder,5C64.5,0000212,E83.5,143880,C4329374,,,
300552,Follicular cholangitis and pancreatitis,Disease,Disorder,DC33,0017589,K86.1,,C4749906,,,
300557,Carcinoma of the ampulla of Vater,Disease,Disorder,2C16,0017590,C24.1,,C0262401,,10048853,
300564,Combined pulmonary fibrosis-emphysema syndrome,Disease,Disorder,CB03.1,0017591,J84.1,,C3872815,,10076515,
300570,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,Disease,Disorder,,0013541,Q04.3,614039,C5191309,,,13032
300573,Polymicrogyria due to TUBB2B mutation,Malformation syndrome,Disorder,,12399,Q04.3,610031,C5681081,,,
300576,Oligodontia-cancer predisposition syndrome,Disease,Disorder,,0012075,,,C4750788,,,
300579,Staphylococcal toxemia,Category,Group of disorders,,0017592,,,C0854511,,10041932,
300496,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,Malformation syndrome,Disorder,,0010466,Q87.8,300868,C4751110,,,12777
300501,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,Malformation syndrome,Disorder,,0017585,D36.1,,C4751109,,,11006
300504,Onychocytic matricoma,Disease,Disorder,,0017586,D23.9,,C4751108,,,11007
300512,Onychomatricoma,Disease,Disorder,,0017587,D23.9,,C4751078,,,
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,,,
300530,Pseudohypoaldosteronism type 2E,Etiological subtype,Subtype of disorder,BA04.Y,0013782,I15.1,614496,C3469606,,,
300536,DDOST-CDG,Disease,Disorder,,0013789,E77.8,614507,C3281084,,,12398
300849,Diffuse large B-cell lymphoma of the central nervous system,Disease,Disorder,2A81.5,0017596,C83.3,,C2026186,,,
300846,Aggressive B-cell non-Hodgkin lymphoma,Category,Group of disorders,,0017595,,,C5555120,,,
300865,Primary cutaneous anaplastic large cell lymphoma,Disease,Disorder,2B03.0,0017598,C86.6,,C1301362,D054446,10065863,
300857,T-cell/histiocyte rich large B cell lymphoma,Disease,Disorder,2A81.4,0017597,C83.3,,C1321547,,,12257
300878,Hairy cell leukemia variant,Disease,Disorder,2A82.3,0017600,C91.4,,C0349633,,10019054,
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,,,
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
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,,,
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,,,
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,,,
300912,Marginal zone lymphoma,Clinical group,Group of disorders,,0017604,,,C0242647,D018442,,13237
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
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,,,
306553,Myospherulosis,Disease,Disorder,,0017628,M79.8,,C0027123,,,
306542,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,Malformation syndrome,Disorder,,0013271,Q87.0,613456,C4751077,,,
306547,Porencephaly-microcephaly-bilateral congenital cataract syndrome,Malformation syndrome,Disorder,,0013394,Q07.8,613730,C4751076,,,
306530,Congenital hereditary facial paralysis-variable hearing loss syndrome,Morphological anomaly,Disorder,,0017627,Q87.0,614744,C4302592,,,
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
306516,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,Disease,Disorder,5C64.41,0017624,E83.4,,C5679977,,,
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
306498,PTEN hamartoma tumor syndrome,Disease,Disorder,LD2D.Y,0017623,Q85.8,,C1959582,,,12800
306504,Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,Disease,Disorder,,0013881,J84.8,614748,C4518785,,,
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
306658,Familial normophosphatemic tumoral calcinosis,Clinical subtype,Subtype of disorder,5C64.5,0012502,M11.2,610455,C1864861,C566473,,10878
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,,,
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,,,
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,,,
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,,,
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,,,
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,,,
295201,"Congenital vertical talus, unilateral",Clinical subtype,Subtype of disorder,LB98.4,0017546,Q66.8,192950,C5681089,,,
295203,"Congenital vertical talus, bilateral",Clinical subtype,Subtype of disorder,LB98.4,0017547,Q66.8,192950,C1860446,,,
295197,Synpolydactyly type 2,Clinical subtype,Subtype of disorder,LB79.Y,0011984,Q70.2,608180,C1842422,C564278,,
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,,,
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,,,
298644,Disorder of thiamine metabolism and transport,Category,Group of disorders,,0017578,,,C5681092,,,
300179,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,Clinical subtype,Subtype of disorder,LD28.1Y,0013800,Q79.6,614557,C4303788,,,
300319,Charcot-Marie-Tooth disease type 2P,Disease,Disorder,,,G60.0,614436,C3280797,,,12435
300324,Persistent polyclonal B-cell lymphocytosis,Disease,Disorder,,0011672,D72.8,606445,C1847973,C564707,,
300313,Congenital cataract-hearing loss-severe developmental delay syndrome,Disease,Disorder,,0013772,E88.8,614482,C4751114,,,
300298,Severe congenital hypochromic anemia with ringed sideroblasts,Disease,Disorder,3A72.00,0014094,D64.0,615234,C4511137,,,
300305,11p15.4 microduplication syndrome,Malformation syndrome,Disorder,LD41.A,0017580,Q92.3,,C4749508,,,
300284,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,Disease,Disorder,4A4Y,0012892,M35.8,612394,C4706393,,,
300293,Transient infantile hypertriglyceridemia and hepatosteatosis,Disease,Disorder,DB99.Y,0013771,K76.0,614480,C4751115,,,
300385,Pituitary carcinoma,Disease,Disorder,,0017582,C75.1,,C0346300,,,9371
300493,Sagliker syndrome,Particular clinical situation in a disease or syndrome,Disorder,GB90.4Y,0017584,M89.8,,C5681093,,,
300373,X-linked acrogigantism,Disease,Disorder,5A60.0,0017581,E22.0,300942,C4751112,,,
300382,Progeroid and marfanoid aspect-lipodystrophy syndrome,Disease,Disorder,LD27.6,0014831,E88.1,616914,C4751111,,,
300345,Autosomal systemic lupus erythematosus,Disease,Disorder,4A40.0Y,0013743,M32.8,614420,C4750787,,,
300359,PLCG2-associated antibody deficiency and immune dysregulation,Disease,Disorder,4A60.Y,0013766,L50.2,614468,C4722480,,,
300333,Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,Disease,Disorder,GB41,0012190,N04.8,609057,C4751113,,,
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,,,
464738,Basel-Vanagaite-Smirin-Yosef syndrome,Malformation syndrome,Disorder,,0014643,Q87.8,616449,C4225323,,,
464760,Familial cavitary optic disc anomaly,Morphological anomaly,Disorder,LA13.7Y,0012687,Q14.2,611543,C1969063,,,
464756,Familial gastric type 1 neuroendocrine tumor,Disease,Disorder,2B72.1,0018742,C16.9,,C5681095,,,
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
464282,Spastic paraplegia-severe developmental delay-epilepsy syndrome,Disease,Disorder,,0014764,Q87.8,616756,C5568869,,,
464288,Short stature-brachydactyly-obesity-global developmental delay syndrome,Malformation syndrome,Disorder,,0014944,Q87.8,617157,C5568868,,,
464306,DYRK1A-related intellectual disability syndrome,Malformation syndrome,Disorder,LD90.Y,0013578,Q87.8,614104,C5568143,,,13527
464293,NON RARE IN EUROPE: Infantile capillary hemangioma,Disease,Disorder,,,,,,,,
464329,Kaposiform lymphangiomatosis,Disease,Disorder,2E81.10,0018736,D18.1,,C5681097,,,13451
464321,Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,Disease,Disorder,,0018735,D18.1,,C5575322,,,10467
464318,Verrucous hemangioma,Disease,Disorder,LC52,0018734,D18.0,,C0334540,,,
464311,Intellectual disability syndrome due to a DYRK1A point mutation,Etiological subtype,Subtype of disorder,LD90.Y,0018733,Q87.8,614104,C5679991,,,
464366,NEK9-related lethal skeletal dysplasia,Malformation syndrome,Disorder,LD26.4Y,0014870,Q77.2,617022,C5568141,,,
464359,Benign metanephric tumor,Disease,Disorder,2F35,0018738,D30.0,,C5681098,,,
464343,Catastrophic antiphospholipid syndrome,Disease,Disorder,4A45,0018737,D68.6,,C3662487,,,9820
464336,BENTA disease,Disease,Disorder,,0014645,D81.8,616452,C4551967,,,13339
464453,Acquired methemoglobinemia,Disease,Disorder,3A93,0018740,D74.8,,C0271905,,,
464443,COG6-CGD,Disease,Disorder,,0013810,E77.8,614576,C3553230,,,10944
464440,"Primary dystonia, DYT27 type",Disease,Disorder,,0014627,G24.1,616411,C4225336,,,
464370,Neonatal alloimmune neutropenia,Disease,Disorder,KA8E,0018739,P61.5,,C0272176,,,
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,,,
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
537,Toxic epidermal necrolysis,Clinical subtype,Subtype of disorder,EB13.1,0018890,L51.2,,C0014518,,10044223,
793,SAPHO syndrome,Disease,Disorder,4A61,0019266,M86.3,,C0263859,D020083,10051316,7606
456298,1p35.2 microdeletion syndrome,Malformation syndrome,Disorder,,0018697,Q93.5,617930,C5679992,,,
456328,X-linked myotubular myopathy-abnormal genitalia syndrome,Disease,Disorder,,0010271,Q99.8,300219,C1846169,C564561,,
456333,Hereditary neuroendocrine tumor of small intestine,Disease,Disorder,2B80.21,0018698,C17.9,,C5679993,,,
456312,Infantile multisystem neurologic-endocrine-pancreatic disease,Disease,Disorder,LD90.Y,8000012,Q87.8,616263,C5779989,,,
456318,Hereditary sensory neuropathy-deafness-dementia syndrome,Disease,Disorder,,0013584,G60.8,614116,C3279885,C580162,,11927
454840,NTHL1-related polyposis,Disease,Disorder,,0014630,D12.6,616415,C4225157,,,
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,,
454836,Avian influenza,Disease,Disorder,1E31,0018695,J09,,C0016627,D005585,10064097,
454887,Corticobasal syndrome,Disease,Disorder,,0018696,G31.0,,C0393570,D000088282,,
454742,Variably protease-sensitive prionopathy,Disease,Disorder,8E03,0018692,A81.8,,C4303527,,,
454723,Endometrioid carcinoma of ovary,Disease,Disorder,2C73.Y,6335,C56,,C0346163,,10073269,
454718,Holmes-Adie syndrome,Disease,Disorder,9B01.1,0018690,H57.0,103100,C0001519,D000270,10020352,5749
454714,Plasma cell leukemia,Disease,Disorder,2A83.4,0018689,C90.1,,C0023484,D007952,10035222,9373
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
454745,Kuru,Disease,Disorder,8E01.1,0006825,A81.8,245300,C0022802,D007729,10023497,7617
453533,Polyendocrine-polyneuropathy syndrome,Disease,Disorder,,0014497,E34.8,616113,C4015261,,,
453521,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,Disease,Disorder,,0014503,G11.1,616127,C4015301,,,
454710,Anti-p200 pemphigoid,Disease,Disorder,EB41.Y,0018688,L12.8,,C5681099,,,
454706,Progressive muscular atrophy,Disease,Disorder,8B60.3,0018687,G12.2,,C0917981,,10036808,
454700,Acquired Creutzfeldt-Jakob disease,Clinical group,Group of disorders,,0018686,,123400,C5681100,,,
451602,Primary cutaneous plasmacytosis,Disease,Disorder,EK91.2,0018679,L98.6,,C4736227,,,
451607,Cutaneous pseudolymphoma,Disease,Disorder,4A43.0,0018680,L98.6,,C0311220,,,
451612,Familial congenital nasolacrimal duct obstruction,Morphological anomaly,Disorder,LA14.14,0007871,Q10.5,149700,C5681101,,,
453499,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,Malformation syndrome,Disorder,LD2F.1Y,,Q87.8,616580,C4225274,,,
453504,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,Etiological subtype,Subtype of disorder,,,Q87.8,616580,C5848390,,,
453510,Congenital insensitivity to pain with severe intellectual disability,Disease,Disorder,,0018682,G60.8,,C5679994,,,
450322,Polyclonal hyperviscosity syndrome,Clinical syndrome,Disorder,,0018678,D89.0,,C5681102,,,
449566,Eosinophilic angiocentric fibrosis,Disease,Disorder,4A43.0,0018676,J39.8,,C5578050,,10087310,
449563,IgG4-related ophthalmic disease,Clinical subtype,Subtype of disorder,4A43.0,0018675,H05.1,,C5569009,,,
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,,,
449395,IgG4-related kidney disease,Clinical subtype,Subtype of disorder,4A43.0,0018671,N11.8,,C5392056,,,
449432,IgG4-related submandibular gland disease,Clinical subtype,Subtype of disorder,4A43.0,0018674,K11.2,,C5679995,,,
449427,IgG4-related pachymeningitis,Clinical subtype,Subtype of disorder,4A43.0,0018673,G03.9,,C4545992,,,13256
449280,Scedosporiosis,Disease,Disorder,1F2H,0018668,B48.7,,C1142170,C000656924,10059045,
449285,Snakebite envenomation,Disease,Disorder,NE61,0018669,T63.0,,C0037379,D012909,,
449266,Pleural empyema,Particular clinical situation in a disease or syndrome,Disorder,CA44,0018667,J86.9,,C0014013,D016724,,
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,,,
448251,Progressive autosomal recessive ataxia-deafness syndrome,Disease,Disorder,,0014572,G11.1,616291,C4225383,,,
448270,Ectopia cordis,Morphological anomaly,Disorder,LA80.3,0018664,Q24.8,,C0013580,D054083,10014144,
448267,Regressive spondylometaphyseal dysplasia,Malformation syndrome,Disorder,LD24.4,0018663,Q77.8,618019,C4747922,,,
448010,CAD-CDG,Disease,Disorder,5C54.2,0014647,E77.8,616457,C4225320,,,13621
447997,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,Disease,Disorder,,0014725,Q02,616657,C4225254,,,13425
448242,Autosomal recessive brachyolmia,Malformation syndrome,Disorder,LD24.5Y,0018662,Q76.3,271630,C4760908,,,
448237,Zika virus disease,Disease,Disorder,1D48,0018661,A92.5,,C0276289,D000071243,10078205,12894
447977,Progressive scapulohumeroperoneal distal myopathy,Disease,Disorder,,0014800,G71.0,616852,C4225181,,,
447974,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0014689,Q76.1,616549,C4225285,,,
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,,,
447954,Combined oxidative phosphorylation defect type 25,Disease,Disorder,5C53.23,0014636,E88.8,616430,C5567742,,,
447964,Autosomal dominant Charcot-Marie-Tooth disease type 2V,Disease,Disorder,,0014665,G60.0,616491,C5569050,,,
447961,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,Disease,Disorder,,0018657,D04.8,618373,C5681108,,,
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
459051,"Spondyloepiphyseal dysplasia, Stanescu type",Disease,Disorder,LD24.3,0014701,Q77.7,616583,C4225273,,,
459061,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,Malformation syndrome,Disorder,,,Q87.8,616901,C4310801,,,
459056,Autosomal recessive spastic paraplegia type 75,Disease,Disorder,,0014729,G11.4,616680,C4225250,,,
459074,Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,Malformation syndrome,Disorder,,0018725,Q04.0,,C5679998,,,
459070,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,Malformation syndrome,Disorder,LD90,0018724,Q87.0,300998,C5687848,,,
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
458758,Composite hemangioendothelioma,Disease,Disorder,,0018712,D48.1,,C1304513,,,
458763,Retiform hemangioendothelioma,Disease,Disorder,,0018713,D48.1,,C1304512,,,
458768,Papillary intralymphatic angioendothelioma,Disease,Disorder,,0018714,D48.1,,C0346087,,,
458775,Congenital hemangioma,Clinical group,Group of disorders,,0018715,,,C0235753,,10018818,
458785,Partially involuting congenital hemangioma,Disease,Disorder,2E81.2Y,0018716,D18.0,,C4733501,,,
458792,Mixed cystic lymphatic malformation,Malformation syndrome,Disorder,,0018717,D18.1,,C5680000,,,
458798,Spinocerebellar ataxia type 41,Disease,Disorder,,0014626,G11.2,616410,C4225158,,,
458803,Spinocerebellar ataxia type 42,Disease,Disorder,,0014776,G11.8,616795,C4225205,,,
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
457265,Progressive myoclonic epilepsy type 9,Disease,Disorder,,0014685,G40.3,616540,C4225289,,,
457279,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,Malformation syndrome,Disorder,,0014602,Q87.8,616355,C4225354,,,
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
457240,X-linked intellectual disability-short stature-overweight syndrome,Malformation syndrome,Disorder,LD90,0010496,Q87.8,300957,C5681122,,,
457246,Clear cell sarcoma of kidney,Disease,Disorder,,0005006,C64,,C0334488,,10009253,
457395,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,Malformation syndrome,Disorder,LD24.3,0014748,Q87.8,616723,C5568882,,,
457406,Multiple mitochondrial dysfunctions syndrome type 4,Disease,Disorder,,0014611,E88.8,616370,C4225348,,,
457375,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,Disease,Disorder,,0014719,G40.4,616647,C4225256,,,
457378,Complex lethal osteochondrodysplasia,Malformation syndrome,Disorder,,0014821,Q78.8,616897,C4225162,,,
457359,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,Malformation syndrome,Disorder,LD2C,0018710,Q87.3,617011,C5681123,,,
457365,Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0018711,Q87.8,,C5681124,,,
457284,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0014605,Q87.0,616362,C4225352,,,
457351,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,Malformation syndrome,Disorder,,0014698,Q02,616577,C4225276,,,
457185,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,Disease,Disorder,5C53.2Y,0014562,E88.8,616276,C5568562,,,
457083,Isolated splenogonadal fusion,Morphological anomaly,Disorder,,0018703,Q89.0,,C0266636,,,
457077,TAFRO syndrome,Disease,Disorder,4A4Y,0018702,M35.8,,C4552543,,,
457095,Actinomycosis,Disease,Disorder,1C10.3,0005631,A42.2,,C0001261,D000196,10000620,5728
457088,Predisposition to invasive fungal disease due to CARD9 deficiency,Disease,Disorder,,0008905,D84.8,212050,C1859353,,10083959,
457223,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,Disease,Disorder,,0018706,E88.8,617872,C4693450,,,
457212,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,Disease,Disorder,,0014559,F78.1,616269,C4225395,,,
457193,KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome,Malformation syndrome,Disorder,LD90.Y,0014558,Q87.8,616268,C4225396,,,
457205,Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,Disease,Disorder,,0018705,G60.8,,C5680002,,,
456369,Polyglucosan body myopathy type 2,Disease,Disorder,,0014526,E74.0,616199,C4015452,,,
457059,Pseudohypoparathyroidism with Albright hereditary osteodystrophy,Clinical group,Group of disorders,,,,,C5681125,,,5770
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,,,
651,NON RARE IN EUROPE: Idiopathic infantile nystagmus,Disease,Disorder,,,,,,,,
317,Erythrokeratodermia variabilis,Disease,Disorder,EC20.0Y,0017851,Q82.8,617526,C0265961,D056266,10049048,
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
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,,,
248,Autosomal recessive hypohidrotic ectodermal dysplasia,Etiological subtype,Subtype of disorder,LD27.02,0016619,Q82.4,618535,C0406702,D053360,,2057
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,Etiological subtype,Subtype of disorder,LD27.02,0015884,Q82.4,614940,C0265331,,,2048
3437,Vogt-Koyanagi-Harada disease,Disease,Disorder,9A96.1,0018092,H30.8,,C0042170,D014607,10082001,7862
2032,Idiopathic pulmonary fibrosis,Disease,Disorder,CB03.4,,J84.1,619611,C1800706,D054990,10021240,8609
1303,Bronchiolitis obliterans,Clinical group,Group of disorders,CA26.0,,J44.8,,C0006272,,10029888,5961
3348,Tracheobronchopathia osteochondroplastica,Disease,Disorder,CA27.0,0008587,J98.0,189961,C0520538,C536977,,5235
2902,Idiopathic chronic eosinophilic pneumonia,Disease,Disorder,CB02.11,0017363,J82,,C2930941,,,1130
1302,Cryptogenic organizing pneumonia,Disease,Disorder,CB03.2,0015264,J84.1,,C0242770,D018549,10011496,1620
198,Occipital horn syndrome,Disease,Disorder,LD28.2,0010572,E83.0,304150,C0268353,C537860,,4017
891,Familial exudative vitreoretinopathy,Disease,Disorder,LA13.3,,H35.0,617572,C0339539,D000080345,,1613
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,,
466682,Euthyroid Graves orbitopathy,Disease,Disorder,9A20.00,0018756,H05.2,,C5680004,,,
466688,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,Malformation syndrome,Disorder,,0014787,Q87.0,616819,C4225193,,,
466695,Supratip dysplasia,Morphological anomaly,Disorder,,0018757,J34.8,,C5681127,,,
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,,,
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,,,
466962,SMARCA4-deficient sarcoma of thorax,Disease,Disorder,,0018761,C49.3,,C5554190,,,
466950,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,Clinical subtype,Subtype of disorder,,0014741,Q87.8,616708,C5681129,,,
466943,WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,Malformation syndrome,Disorder,,0018760,Q87.0,616708,C4225239,,,
466926,Seizures-scoliosis-macrocephaly syndrome,Disease,Disorder,,0014731,E77.8,616682,C4225248,,,
466934,VPS11-related autosomal recessive hypomyelinating leukodystrophy,Disease,Disorder,,0014732,G93.8,616683,C5568878,,,
466921,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,Disease,Disorder,,0018759,G71.0,,C5568863,,,
466806,Autosomal dominant thrombocytopenia with platelet secretion defect,Disease,Disorder,3B64.01,,D69.4,616913,C5568864,,,
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,,,
466791,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,Malformation syndrome,Disorder,,0010501,Q87.8,300967,C5569083,,,
466784,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,Disease,Disorder,,0014775,E88.8,616794,C5569081,,,
466775,Autosomal recessive Charcot-Marie-Tooth disease type 2X,Disease,Disorder,8C20.1,0014726,G60.0,616668,C5569024,,,
466768,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,Disease,Disorder,,0014736,G60.0,616688,C5569025,,,
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,,,
466722,Autosomal recessive spastic paraplegia type 77,Disease,Disorder,,0014882,G11.4,617046,C5569007,,,
466718,Martinique crinkled retinal pigment epitheliopathy,Disease,Disorder,9B70,0014920,H35.5,617111,C4310713,,,
466703,TMEM199-CDG,Disease,Disorder,,0014790,E77.8,616829,C4225190,,,
465824,Fetal encasement syndrome,Malformation syndrome,Disorder,,0013334,Q87.8,613630,C3150891,,,
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
468620,Intellectual disability-epilepsy-extrapyramidal syndrome,Disease,Disorder,,0014952,G93.8,617171,C5568848,,,13474
468631,Microcephalic cortical malformations-short stature due to RTTN deficiency,Malformation syndrome,Disorder,,0018764,Q02,614833,C3553831,,,
467166,Tubulinopathy-associated dysgyria,Disease,Disorder,,0018763,Q04.8,,C5568850,,,
467176,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,Disease,Disorder,8C72.Y,0014784,G71.2,616816,C5568849,,,
468635,Cryptogenic multifocal ulcerous stenosing enteritis,Disease,Disorder,DA94.02,0018765,K63.3,,C4302263,,,
468641,Chronic enteropathy associated with SLCO2A1 gene,Disease,Disorder,DA94.01,0018766,K63.8,,C5568838,,,
468661,Autosomal recessive spastic paraplegia type 74,Disease,Disorder,,0014644,G11.4,616451,C5568837,,,
468666,Isolated generalized anhidrosis with normal sweat glands,Disease,Disorder,,7118,L98.8,106190,C5568836,,,
468678,White-Sutton syndrome,Disease,Disorder,,0014606,Q87.0,616364,C4225351,,,
468684,CCDC115-CDG,Disease,Disorder,,0014789,E77.8,616828,C4225191,,,
468672,Colobomatous macrophthalmia-microcornea syndrome,Disease,Disorder,LA10.Y,0011239,Q15.8,602499,C1865286,C566533,,
468726,Severe primary trimethylaminuria,Disease,Disorder,,0018767,E88.8,602079,C5575503,,,6447
468699,SLC39A8-CDG,Disease,Disorder,,0014746,E77.8,616721,C4225234,,,
468717,Rhizomelic chondrodysplasia punctata type 5,Etiological subtype,Subtype of disorder,LD24.04,0014743,Q77.3,616716,C4225237,,,
401785,Autosomal recessive spastic paraplegia type 62,Disease,Disorder,8B44.01,0014302,G11.4,615681,C4284588,,,17657
401780,Autosomal recessive spastic paraplegia type 61,Disease,Disorder,8B44.01,0014304,G11.4,615685,C3810294,,,17656
401800,Autosomal recessive spastic paraplegia type 60,Disease,Disorder,8B44.01,0018417,G11.4,,C5190589,,,21696
401795,Autosomal recessive spastic paraplegia type 59,Disease,Disorder,8B44.01,0018416,G11.4,,C4750857,,,21695
401768,Proximal myopathy with extrapyramidal signs,Disease,Disorder,,0014300,G71.3,615673,C4749430,,,12978
401764,Pancytopenia-developmental delay syndrome,Disease,Disorder,3A70.0,0014317,D61.0,615715,C4751507,,,
401777,Optic atrophy-intellectual disability syndrome,Disease,Disorder,9C40.B0,0014320,H47.2,615722,C3810363,,10083269,
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
401835,Autosomal recessive spastic paraplegia type 70,Disease,Disorder,8B44.01,0018422,G11.4,620323,C4749431,,,21700
401840,Autosomal recessive spastic paraplegia type 71,Disease,Disorder,8B44.01,0018423,G11.4,,C5190578,,,
401805,Autosomal recessive spastic paraplegia type 63,Disease,Disorder,8B44.01,0014305,G11.4,615686,C3810295,,,17658
401810,Autosomal recessive spastic paraplegia type 64,Disease,Disorder,8B44.01,0014303,G11.4,615683,C3810289,,,17659
401815,Autosomal recessive spastic paraplegia type 66,Disease,Disorder,8B44.01,0018418,G11.4,,C5190590,,,21697
401820,Autosomal recessive spastic paraplegia type 67,Disease,Disorder,8B44.01,0018419,G11.4,615802,C4707829,,,21698
401866,Childhood-onset spasticity with hyperglycinemia,Disease,Disorder,,0014803,E88.8,616859,C4225178,,,
401869,Multiple mitochondrial dysfunctions syndrome type 1,Disease,Disorder,5C53.21,0011582,E88.8,605711,C3276432,,,
401874,Multiple mitochondrial dysfunctions syndrome type 2,Disease,Disorder,5C53.21,0013675,E88.8,614299,C3280378,,,
401849,Autosomal spastic paraplegia type 72,Disease,Disorder,8B44.01,0014282,G11.4,615625,C3810160,,,
401854,Lipoic acid biosynthesis defect,Category,Group of disorders,,0018424,,,C5680006,,,12679
401859,Lipoic acid synthetase deficiency,Disease,Disorder,,0013762,E88.8,614462,C5190587,,,12678
401862,Lipoyl transferase 1 deficiency,Disease,Disorder,,0014576,E88.8,616299,C5190588,,,
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,
401920,Fibrolamellar hepatocellular carcinoma,Disease,Disorder,2C12.02,0006210,C22.0,,C0334287,C537258,,
401911,AXIN2-related polyposis,Disease,Disorder,2B90.Y,0018426,D12.6,608615,C5680012,,,
401901,Huntington disease-like syndrome due to C9ORF72 expansions,Disease,Disorder,,0018425,G10,,C5190586,,,
401942,Familial median cleft of the upper and lower lips,Malformation syndrome,Disorder,,0014388,Q36.1,615892,C4305376,,,
401935,14q24.1q24.3 microdeletion syndrome,Malformation syndrome,Disorder,,0018429,Q93.5,,C4750911,,,
401923,9q31.1q31.3 microdeletion syndrome,Malformation syndrome,Disorder,,0018428,Q93.5,,C4750910,,,
401959,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,Malformation syndrome,Disorder,,0018430,Q04.3,,C4750913,,,
401953,Episodic ataxia with slurred speech,Disease,Disorder,,0014476,G11.8,616055,C4015108,,,
401948,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,Disease,Disorder,,0014332,E74.8,615751,C4706871,,,13201
401945,Moyamoya disease with early-onset achalasia,Disease,Disorder,DA21.0,0014331,K22.0,615750,C4305378,,,
401986,1p31p32 microdeletion syndrome,Malformation syndrome,Disorder,,0013396,Q93.5,613735,C4707828,,,
401979,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",Malformation syndrome,Disorder,LD24.4,0013223,Q77.8,613320,C5190608,,,
401973,MEND syndrome,Malformation syndrome,Disorder,,0010498,Q87.8,300960,C4085243,,,
401964,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,Disease,Disorder,,0012411,G60.0,610100,C5190585,,,12447
402003,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,Disease,Disorder,,0014327,Q82.8,615735,C5190822,,,
402007,Lichen myxedematosus,Clinical group,Group of disorders,EB90.1,0018432,,,C5848049,,10055046,
401993,Cold-induced sweating syndrome-hyperthermia spectrum,Clinical group,Group of disorders,,0018431,,,C5681139,,,
401996,Karyomegalic interstitial nephritis,Disease,Disorder,GB55.Y,0013898,N11.8,614817,C3553774,,,11003
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,
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,,,
402082,Progressive myoclonic epilepsy type 5,Disease,Disorder,,,G40.3,607459,C5190799,,,
402364,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,Malformation syndrome,Disorder,,0013351,Q04.3,613668,C4749432,,,10995
402041,Autosomal recessive distal renal tubular acidosis,Clinical subtype,Subtype of disorder,,0018440,N25.8,602722,C1864498,C537758,,4666
402075,Familial bicuspid aortic valve,Morphological anomaly,Disorder,LA8A.22,0007194,Q23.1,618496,C4749284,,,
806,Scott syndrome,Disease,Disorder,3B62.Y,0009885,D69.8,262890,C0796149,C563120,,4777
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
404463,Multisystemic smooth muscle dysfunction syndrome,Disease,Disorder,BD50.Z,0013452,I73.8,613834,C3151201,,,12811
404466,Female infertility due to zona pellucida defect,Disease,Disorder,GA31.0Y,0014342,N97.8,615774,C4749433,,,
404451,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,Malformation syndrome,Disorder,,0018443,Q87.8,,C4751506,,,
404454,Alacrimia-choreoathetosis-liver dysfunction syndrome,Disease,Disorder,,0800044,E77.8,615273,C3808991,C000626124,,12315
404443,Tatton-Brown-Rahman syndrome,Malformation syndrome,Disorder,LD2C,0014382,Q87.3,615879,C4014545,,,
404448,Helsmoortel-Van der Aa syndrome,Malformation syndrome,Disorder,,0014379,Q87.0,615873,C4014538,,10083856,12931
404437,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,Malformation syndrome,Disorder,,0014335,G98,615760,C5190583,,,
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
404553,Deficiency of adenosine deaminase 2,Disease,Disorder,4A60.Y,0014306,M30.8,615688,C4749403,,,12383
404546,DITRA,Disease,Disorder,4A00.Y,0013626,L40.1,614204,C4759670,,10079451,
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,,,
404514,Acquired cystic disease-associated renal cell carcinoma,Disease,Disorder,,0018449,C64,,C4707179,,,
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,,,
404499,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,Disease,Disorder,,0014311,G11.1,615705,C3810326,,,
404493,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,Disease,Disorder,,0014846,G11.1,616949,C4750914,,,
404481,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome,Clinical group,Group of disorders,,0018446,,,C5681145,,,
404476,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,Malformation syndrome,Disorder,LD2C,0018445,Q87.3,618272,C4748924,,,
411527,Central retinal vein occlusion,Particular clinical situation in a disease or syndrome,Disorder,9B74.1,0002303,H34.8,,C0154841,,10007972,
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,,,
411543,Severe phosphoribosylpyrophosphate synthetase superactivity,Clinical subtype,Subtype of disorder,5C55.0Y,0018464,E79.8,300661,C5680017,,,
411590,Wolfram-like syndrome,Disease,Disorder,,0013673,E34.8,614296,C4518338,,,
411593,Insulin autoimmune syndrome,Disease,Disorder,5A4Y,0018465,E16.1,,C0854359,,10022472,10808
411602,Hereditary late-onset Parkinson disease,Disease,Disorder,,0008199,G20,614203,C4274355,,,
411629,Infantile nephropathic cystinosis,Clinical subtype,Subtype of disorder,5C60.1,0018467,N16.3*,219800,C3537440,C565655,,
411493,Pontocerebellar hypoplasia type 10,Malformation syndrome,Disorder,,0014349,Q04.3,615803,C5190575,,,
411501,Williams-Campbell syndrome,Morphological anomaly,Disorder,LA74.Y,0008888,Q33.4,,C0340231,,,
411511,Angelman syndrome due to a point mutation,Etiological subtype,Subtype of disorder,LD90.0,0018461,Q93.5,105830,C5681146,,,
411515,Angelman syndrome due to imprinting defect in 15q11-q13,Etiological subtype,Subtype of disorder,LD90.0,0018462,Q93.5,,C5681834,,,
411777,Generalized eruptive keratoacanthoma,Disease,Disorder,2C31.1,0018471,L85.8,,C0345985,,,
411712,Maternal riboflavin deficiency,Disease,Disorder,,0014013,P00.4,615026,C4750953,,,
411788,Familial isolated trichomegaly,Disease,Disorder,LD27.0Y,0018472,Q84.2,190330,C4706941,,,
411986,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0014371,G40.4,615859,C4750952,,,
411969,NON RARE IN EUROPE: Metabolic syndrome,Clinical syndrome,Disorder,,,,,,,,
412035,13q12.3 microdeletion syndrome,Malformation syndrome,Disorder,,0018474,Q93.5,,C4750951,,,
412022,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,Malformation syndrome,Disorder,LD21.Y,0011106,Q87.0,601552,C1832167,,,
411641,Ocular cystinosis,Clinical subtype,Subtype of disorder,,0009064,E72.0,219750,C2931013,C535765,,
411634,Juvenile nephropathic cystinosis,Clinical subtype,Subtype of disorder,5C60.1,0009066,N16.3*,219900,C0268626,C562683,,
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
411703,Pulmonary non-tuberculous mycobacterial infection,Disease,Disorder,1B21.0,0018469,A31.0,,C3472679,,,12829
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,,,
371364,Hypotonia-speech impairment-severe cognitive delay syndrome,Disease,Disorder,,0014176,Q87.8,615419,C4706556,,,
391711,Persistent combined dystonia,Clinical group,Group of disorders,,,,,C5681153,,,
391673,Necrotizing enterocolitis,Disease,Disorder,KB88,0005313,P77,,C0520459,D020345,,9767
391677,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,Malformation syndrome,Disorder,,0013889,Q87.1,614800,C3541319,,,10945
391723,Mucinous adenocarcinoma of the appendix,Disease,Disorder,2B81.00,0018330,C18.1,,C1706832,,10073361,
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,,,
391504,Transient neonatal myasthenia gravis,Clinical subtype,Subtype of disorder,KB08.0,0018326,P94.0,,C0495465,,,
391497,Juvenile myasthenia gravis,Clinical subtype,Subtype of disorder,8C60,0018325,G70.0,,C5680023,,,
391490,Adult-onset myasthenia gravis,Clinical subtype,Subtype of disorder,8C60,0018324,G70.0,,C5680024,,,
391487,STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,Disease,Disorder,,0013599,K63.9,614162,C5925149,,,12314
391646,Feingold syndrome type 2,Clinical subtype,Subtype of disorder,LD2F.1Y,0013691,Q87.8,614326,C3280489,,,
391641,Feingold syndrome type 1,Clinical subtype,Subtype of disorder,LD2F.1Y,0008115,Q87.8,164280,C4551774,,,
391665,Homozygous familial hypercholesterolemia,Disease,Disorder,5C80.00,0018328,E78.0,144010,C0342881,D000090542,10057080,10416
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,,,
391651,Glomus tumor,Disease,Disorder,2E81.0Z,0018327,D18.0,,C0017653,D005918,10018381,
391343,Fatal post-viral neurodegenerative disorder,Disease,Disorder,,0018316,G04.8,,C4751597,,,
391348,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,Disease,Disorder,,0014261,E88.8,615578,C4751596,,,
391351,SURF1-related Charcot-Marie-Tooth disease type 4,Disease,Disorder,,0014733,G60.0,616684,C4225246,,,
391366,Growth retardation-mild developmental delay-chronic hepatitis syndrome,Disease,Disorder,DB97.Y,0018317,K73.8,,C4751595,,,
391372,FOXP1 Syndrome,Malformation syndrome,Disorder,,0013352,Q87.0,613670,C5925034,,,12501
391376,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,Disease,Disorder,,0014258,E72.8,615574,C3809971,,,
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
391389,Familial episodic pain syndrome with predominantly upper body involvement,Clinical subtype,Subtype of disorder,MG31.Y,0014021,M79.6,615040,C3808667,,,
391392,Familial episodic pain syndrome with predominantly lower limb involvement,Clinical subtype,Subtype of disorder,MG31.Y,0014247,M79.6,615552,C3809899,,,
391397,Hereditary sensory and autonomic neuropathy type 7,Disease,Disorder,,0014244,G60.8,615548,C3809882,,,12732
391408,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,Disease,Disorder,,0018320,Q87.8,616817,C5190597,,,
391411,Atypical juvenile parkinsonism,Disease,Disorder,,0018321,G20,615530,C4510873,,,
391417,HSD10 disease,Disease,Disorder,5C52.01,0010327,E72.8,300438,C3266731,C564560,,10716
391428,"HSD10 disease, infantile type",Clinical subtype,Subtype of disorder,5C52.01,0018322,E72.8,300438,C5680025,,,
391457,"HSD10 disease, neonatal type",Clinical subtype,Subtype of disorder,5C52.01,0018323,E72.8,300438,C5680026,,,
391307,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0014238,Q87.8,615541,C4750851,,,
391316,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,Disease,Disorder,,0018314,G40.2,,C4750853,,,
391311,Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,Disease,Disorder,,0013427,D84.8,613796,C4755296,,,
391327,X-linked calvarial hyperostosis,Disease,Disorder,FB80.3,0010541,M85.2,302030,C5190611,,,1058
391320,East Texas bleeding disorder,Etiological subtype,Subtype of disorder,3B14.Z,0011615,D68.2,605913,C4750854,,,
391330,X-linked osteoporosis with fractures,Disease,Disorder,LD24.KY,0018315,M80.5,300910,C5190610,,,
398063,Refractory celiac disease,Disease,Disorder,DA95,0018353,K90.0,,C4749333,,,
398058,Squamous cell carcinoma of the penis,Disease,Disorder,2C81.0,0018352,C60.1,,C0238348,,10059631,
398053,Adenocarcinoma of the penis,Disease,Disorder,,,C60.0,,C2212153,,,
398043,Malignant tumor of penis,Category,Group of disorders,,0001325,C60,,C0153601,D010412,10034299,9366
397973,Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,Disease,Disorder,,0011722,Q87.8,606772,C1847522,C564660,,
397968,Charcot-Marie-Tooth disease type 2R,Disease,Disorder,,0014208,G60.0,615490,C3809655,,,
397964,Combined immunodeficiency due to MALT1 deficiency,Disease,Disorder,,0014197,D81.8,615468,C4750906,,,
397959,TCR-alpha-beta-positive T-cell deficiency,Disease,Disorder,,0014160,D81.8,615387,C5190592,,,
397951,Microcephaly-thin corpus callosum-intellectual disability syndrome,Disease,Disorder,,0014273,Q87.8,615599,C4749429,,,
397946,Autosomal spastic paraplegia type 58,Disease,Disorder,,0012651,G11.4,611302,C1969796,,,
397941,MAN1B1-CDG,Disease,Disorder,,0018349,E77.8,,C4518783,,,12417
397937,Polyglucosan body myopathy type 1,Disease,Disorder,5C51.3,0014389,E74.0,615895,C4014605,,,
397933,Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,Disease,Disorder,,0018347,Q87.8,309530,C2931498,,,13221
397927,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,Malformation syndrome,Disorder,,0014314,Q87.5,615709,C4751569,,,
397922,Ferro-cerebro-cutaneous syndrome,Disease,Disorder,5C64.10,0018346,G31.8,301072,C4751570,,,
397787,Combined immunodeficiency due to IKBKB deficiency,Disease,Disorder,4A01.1Y,0014267,D81.8,615592,C5190593,,,
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,,,
397758,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,Disease,Disorder,9B70,0014483,H35.5,616079,C4751571,,,
397744,MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,Disease,Disorder,,0013711,G60.0,614369,C5190594,,,
397750,Periodic paralysis with later-onset distal motor neuropathy,Disease,Disorder,,0018343,G72.3,500010,C4751573,,,
397725,COASY protein-associated neurodegeneration,Disease,Disorder,,0014290,G23.0,615643,C4517377,,,12571
397735,Autosomal dominant Charcot-Marie-Tooth disease type 2U,Disease,Disorder,,0014566,G60.0,616280,C4084821,,,
397709,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,Malformation syndrome,Disorder,,0014601,Q87.8,616354,C5190595,,,
397715,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,Malformation syndrome,Disorder,,0018342,Q04.3,616546,C4518774,,,
397692,Hereditary isolated aplastic anemia,Disease,Disorder,3A70.0,0018340,D61.0,616553,C5190891,,,
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,,,
397685,Familial hyperprolactinemia,Disease,Disorder,5A60.1,0014250,E22.1,615555,C4706551,,,
397615,Obesity due to CEP19 deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0014309,E66.8,615703,C5190985,,,
397618,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,Disease,Disorder,9C2Y,0012216,Q15.8,609218,C5190596,,,
397596,Activated PI3K-delta syndrome,Clinical group,Group of disorders,,0018338,D81.8,616005,C3714976,C585640,10078281,11983
397593,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,Disease,Disorder,,0018337,E88.8,615595,C4750855,,,
397612,Macrocephaly-developmental delay syndrome,Malformation syndrome,Disorder,,0014289,Q75.3,615637,C4706573,,,
397606,PrP systemic amyloidosis,Disease,Disorder,,0018339,E85.8,,C4518776,,,
397590,Silver-Russell syndrome due to a point mutation,Etiological subtype,Subtype of disorder,LD2F.1Y,,Q87.1,616489,C5681157,,,
397587,Deep dermatophytosis,Disease,Disorder,1F28.Y,0021660,B35.8,,C1395264,,,
394532,"Multiple acyl-CoA dehydrogenase deficiency, mild type",Clinical subtype,Subtype of disorder,5C52.01,0018333,E71.3,255100,C5680028,,,
394529,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",Clinical subtype,Subtype of disorder,5C52.01,0018332,E71.3,255100,C5680029,,,
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,,,
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,Disease,Disorder,GB04.0,0018393,N46,618086,C5681165,,,8530
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,,
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,,,
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,,,
398987,Malignant teratoma of ovary,Disease,Disorder,2C73.3,0018369,C56,,C0346182,,,
399086,HNRNPA1-related adult-onset distal myopathy,Disease,Disorder,,0012410,G71.0,610099,C1864706,C566445,,
399081,KLHL9-related early-onset distal myopathy,Disease,Disorder,,0018370,G71.0,,C4706574,,,
399103,Autosomal recessive distal nebulin myopathy,Disease,Disorder,,0018371,G71.0,256030,C5190827,,,
399096,Distal anoctaminopathy,Disease,Disorder,,0013222,G71.0,613319,C2750076,C567645,,
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
398961,Mucinous adenocarcinoma of ovary,Disease,Disorder,2C73.04,0005601,C56,,C4518746,,,
398940,Malignant non-epithelial tumor of ovary,Category,Group of disorders,,0018365,,,C5680039,,,
398980,OBSOLETE: Primary peritoneal serous/papillary carcinoma,Disease,Disorder,,,,,,,,
398971,Clear cell adenocarcinoma of the ovary,Disease,Disorder,2C73.00,0006045,C56,,C1518693,,,
398124,Neonatal lupus erythematosus,Disease,Disorder,KA07.0,0018360,M32.8,,C0409979,C536397,10057887,
398127,Neonatal scleroderma,Disease,Disorder,KC22.2,0018361,P83.8,,C4509425,,,
398147,Persistent idiopathic facial pain,Disease,Disorder,8A85,0018362,G50.1,,C5191641,,,
398156,Oculoauriculofrontonasal syndrome,Malformation syndrome,Disorder,,0011082,Q87.0,601452,C1832352,C537865,,4031
398166,Focal facial dermal dysplasia,Malformation syndrome,Disorder,LD27.0Y,0018363,Q82.8,614974,C2936827,D000090303,,8416
398173,Focal facial dermal dysplasia type II,Clinical subtype,Subtype of disorder,LD27.0Y,0013996,Q82.8,614973,C3554245,,,
398189,Focal facial dermal dysplasia type IV,Clinical subtype,Subtype of disorder,LD27.0Y,0013997,Q82.8,614974,C3554246,,,
398069,Schaaf-Yang syndrome,Disease,Disorder,,0014243,Q87.1,615547,C5575066,C000726748,,13316
398073,Prader-Willi-like syndrome,Clinical group,Group of disorders,,0018354,,,C3809877,,,
398079,SIM1-related Prader-Willi-like syndrome,Disease,Disorder,,0018355,Q87.1,,C5680040,,,
398088,Hereditary cryohydrocytosis with normal stomatin,Disease,Disorder,3A10,0008494,D58.8,185020,C4750907,,,10184
398091,Secondary neonatal autoimmune disease,Category,Group of disorders,,0018356,,,C5680041,,,
398097,Neonatal antiphospholipid syndrome,Disease,Disorder,4A45.1,0018357,D68.6,,C4751518,,,
398109,Neonatal autoimmune hemolytic anemia,Disease,Disorder,3A20.Y,0018358,D59.1,,C4751517,,,
398117,Neonatal dermatomyositis,Disease,Disorder,4A41.0,0018359,M33.1,,C4751516,,,
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,,,
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,,,
435660,LIPE-related familial partial lipodystrophy,Disease,Disorder,5A44,0014431,E88.1,615980,C4014869,,,
435651,CIDEC-related familial partial lipodystrophy,Disease,Disorder,5A44,0014098,E88.1,615238,C3808940,,,
435638,3p25.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.31,0018564,Q93.5,,C5437630,,,
435804,Short stature-advanced bone age-early-onset osteoarthritis syndrome,Disease,Disorder,,0018566,M89.8,165800,C5681177,,,
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,,,
435930,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,Disease,Disorder,,0008927,Q14.8,212550,C4225424,,,
435819,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,Disease,Disorder,,0018567,G60.0,,C5569028,,,
435953,Progeroid features-hepatocellular carcinoma predisposition syndrome,Disease,Disorder,,0014527,C22.0,616200,C4015461,,,
435988,Chronic atrial and intestinal dysrhythmia syndrome,Disease,Disorder,BC80.20,0014528,K59.8,616201,C4015474,,10086078,12281
435934,COG2-CDG,Disease,Disorder,5C54.2,0054559,E77.8,617395,C4479353,,,
435938,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,Malformation syndrome,Disorder,,0018569,Q87.8,300998,C5681178,,,
436141,HIDEA syndrome,Malformation syndrome,Disorder,,0018572,Q87.8,618493,C5681179,,,
436144,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,Disease,Disorder,5A44,0018573,Q87.1,,C5681180,,,
435998,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,Disease,Disorder,,0014467,G60.0,616039,C5569027,,,
436003,Contractures-developmental delay-Pierre Robin syndrome,Malformation syndrome,Disorder,,0018571,Q87.0,,C5680042,,,
436159,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,Disease,Disorder,,0014493,D84.8,616100,C4015214,,,12316
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,,
436166,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,Disease,Disorder,4A60.Y,0014472,E85.0,616050,C4015067,,,
436182,Microcephalic primordial dwarfism-insulin resistance syndrome,Malformation syndrome,Disorder,LD20.2,0018575,Q87.1,616541,C5681181,,,
436174,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,Disease,Disorder,,0014455,E88.8,616007,C4014942,,,
436245,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,Disease,Disorder,LD21.Y,0014495,Q87.8,616108,C4015242,,,
436242,Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,Disease,Disorder,BC63.Y,,I45.8,616117,C5681182,,,
436271,Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,Disease,Disorder,,0018576,G93.4,619061,C5688227,,,
436252,Combined immunodeficiency-multiple intestinal atresia,Disease,Disorder,,0800030,Q82.8,619708,C5680044,,,
436274,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,Disease,Disorder,EE41.Y,0018577,Q82.8,,C5680045,,,
437552,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,Disease,Disorder,,0014313,D84.8,615707,C5680046,,,
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,,,
438159,STAT3-related early-onset multisystem autoimmune disease,Disease,Disorder,4A01.22,0014414,M35.8,615952,C4014795,,,
438134,PCNA-related progressive neurodegenerative photosensitivity syndrome,Disease,Disorder,,0014399,G11.3,615919,C4014676,,,
438117,Steel syndrome,Disease,Disorder,LD24.E,0014061,Q87.5,615155,C3554594,,,
438114,RARS-related autosomal recessive hypomyelinating leukodystrophy,Disease,Disorder,,0014506,E75.2,616140,C4015323,,,
438075,Ketoacidosis due to monocarboxylate transporter-1 deficiency,Disease,Disorder,,0014490,E88.8,616095,C4015186,,,
438072,Disorder of keton body transport,Category,Group of disorders,,,,,C5681184,,,
438279,Human infection by orthopoxvirus,Disease,Disorder,1E74,0018583,B08.0,,C1532229,,,
438274,GCGR-related hyperglucagonemia,Disease,Disorder,5A42,0018582,E16.3,619290,C4763635,,,10460
438266,Progressive encephalomyelitis with rigidity and myoclonus,Clinical subtype,Subtype of disorder,8D82,0018581,G04.8,184850,C1861457,C566113,,13110
438216,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,Etiological subtype,Subtype of disorder,,0014512,G40.4,616158,C4015357,,,
438213,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,Disease,Disorder,,0018580,G40.4,616158,C4708498,,10085882,
438207,Severe autosomal recessive macrothrombocytopenia,Disease,Disorder,3B62.01,0014518,D69.1,616176,C5569048,,,
439224,ALECT2 amyloidosis,Disease,Disorder,5D00.0,0018588,E85.8,,C5680047,,,
439232,AApoAIV amyloidosis,Disease,Disorder,5D00.2Y,0018589,E85.8,,C5568805,,,
439212,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,Disease,Disorder,,0013731,G71.2,614399,C3280679,,,12199
439218,KCNQ2-related developmental and epileptic encephalopathy,Disease,Disorder,,0013387,G40.4,613720,C4755256,,,13060
439196,Zinc-responsive necrolytic acral erythema,Particular clinical situation in a disease or syndrome,Disorder,,0018586,L53.8,,C4546437,,10084061,
439202,Non-recovering obstetric brachial plexus lesion,Disease,Disorder,,0018587,P14.3,,C5680048,,,
439167,Placental insufficiency,Clinical syndrome,Disorder,JA8A.Y,0005919,P02.2,,C0032051,D010927,10035138,
439175,Pediatric arterial ischemic stroke,Clinical syndrome,Disorder,,0018585,I63.5,,C5680049,,,
439762,Systemic polyarteritis nodosa,Clinical subtype,Subtype of disorder,4A44.4,0018596,M30.0,,C5848156,,,
439822,PDE4D haploinsufficiency syndrome,Malformation syndrome,Disorder,,0014298,Q87.8,615668,C5681186,,,
439746,Secondary polyarteritis nodosa,Clinical subtype,Subtype of disorder,4A44.4,0018594,M30.8,,C5680050,,,
439755,Single-organ polyarteritis nodosa,Clinical subtype,Subtype of disorder,4A44.4,0018595,M30.0,,C5680051,,,
439729,Cutaneous polyarteritis nodosa,Clinical subtype,Subtype of disorder,EF40.Z,0018592,M30.0,,C0343190,,,7415
439737,Primary polyarteritis nodosa,Clinical subtype,Subtype of disorder,4A44.4,0018593,M30.0,,C5680052,,,
439246,ABeta2M amyloidosis,Clinical group,Group of disorders,5D00.3,0018590,,,C5680053,,,
439254,ITM2B amyloidosis,Disease,Disorder,5D00.2Y,0018591,I68.0*,176500,C5568806,,,
440221,Congenital oculomotor nerve palsy,Disease,Disorder,9C81.0Y,0018599,Q07.8,,C5680054,,,
440233,Congenital abducens nerve palsy,Disease,Disorder,9C81.2,0018600,Q07.8,,C1302994,,,
439854,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,Disease,Disorder,5C51.3,0009867,E74.0,261740,C1849813,C564888,,10728
439849,Autosomal recessive severe congenital neutropenia,Category,Group of disorders,,0028226,,,C5447331,,,
439897,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,Malformation syndrome,Disorder,,0014552,Q87.8,616258,C4015701,,,
439881,Plastic bronchitis,Particular clinical situation in a disease or syndrome,Disorder,CA42.Z,0018597,J98.0,,C0264342,,10051011,
440402,Interstitial lung disease due to ABCA3 deficiency,Disease,Disorder,CB04.2,0012582,J84.8,610921,C1970456,C567046,,
440354,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,Malformation syndrome,Disorder,LD24.A,0018601,Q87.5,,C5680056,,,
440392,Interstitial lung disease due to SP-C deficiency,Disease,Disorder,CB04.2,0018603,J84.8,610913,C1970470,C567048,,
440368,Necrotizing soft tissue infection,Disease,Disorder,1B71,0018602,M72.6,,C2732890,,10076637,
440713,Isolated sedoheptulokinase deficiency,Disease,Disorder,,0014969,E88.8,617213,C1291373,,,
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,,,
440731,L-ferritin deficiency,Biological anomaly,Disorder,,0014274,E83.1,615604,C3810090,,,
440427,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,Disease,Disorder,CB04.31,0014206,J84.0,615486,C4225400,,,
440437,Familial colorectal cancer Type X,Disease,Disorder,2B90.Y,0018604,C18.7,,C3896578,,,
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,,
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,,,
441452,Early-onset lamellar cataract,Clinical subtype,Subtype of disorder,,0018611,H26.8,116100,C5681191,,,
440987,Isolated agenesis of gallbladder,Morphological anomaly,Disorder,LB20.10,0007642,Q44.0,,C0266251,C562564,10079018,
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,,
443062,Familial porphyria cutanea tarda,Clinical subtype,Subtype of disorder,5C58.10,0008296,E80.1,176100,C0268323,,,
443079,Central serous chorioretinopathy,Disease,Disorder,9B75.2,0018616,H35.7,,C0730328,D056833,10086644,200
443084,Baroreflex failure,Clinical syndrome,Disorder,8D89.3,0018617,G90.4,,C1959798,,,10664
443070,Hemicrania continua,Disease,Disorder,8A82,0018615,G44.0,,C2349425,,10090227,10795
443073,Charcot-Marie-Tooth disease type 2S,Disease,Disorder,,0014511,G60.0,616155,C4015349,,,
442835,Non-specific early-onset epileptic encephalopathy,Disease,Disorder,,0018614,G40.4,617830,C5680057,,,
442582,AH amyloidosis,Disease,Disorder,5D00.Y,0018613,E85.9,,C5204115,,,
3276,Disorder of plasmalogens biosynthesis,Category,Group of disorders,,0017986,,,C5681192,,,
443197,X-linked erythropoietic protoporphyria,Disease,Disorder,,0010420,E80.0,300752,C2677889,C567464,,
3008,Pyruvate carboxylase deficiency,Disease,Disorder,5C53.03,0009949,E74.4,266150,C0034341,D015324,10077944,7512
443192,Classic stiff person syndrome,Clinical subtype,Subtype of disorder,8E4A.0,0018625,G25.8,184850,C5680058,,,
595,Centronuclear myopathy,Clinical group,Group of disorders,8C72.01,0018947,,,C0175709,,,101
443180,Spontaneous intracranial hypotension,Disease,Disorder,8D61.0,0018624,G96.0,,C0751731,,,
413,NON RARE IN EUROPE: Hyperlipoproteinemia type 4,Disease,Disorder,,,E78.1,,,,,
443173,Postpartum psychosis,Disease,Disorder,6E21,0018623,F53.1,,C0520678,,10006362,
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,,,
298,Mitochondrial neurogastrointestinal encephalomyopathy,Disease,Disorder,5C53.20,0017575,G71.3,619780,C0872218,,10065271,9920
396,Chronic hiccup,Disease,Disorder,8A06.21,0018334,G25.8,,C0744898,,,6657
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
552,MODY,Disease,Disorder,5A13.6,0018911,E34.8,616511,C0342276,C562772,,
854,Non-malignant and non-cirrhotic portal vein thrombosis,Clinical syndrome,Disorder,DB98.3,0019431,I81,,C0155773,,10036206,
443227,Paratyphoid fever,Disease,Disorder,1A08,0018626,A01.4,,C0030528,D010284,10033971,
443098,Hyperostosis cranialis interna,Disease,Disorder,FB80.3,0007765,M85.2,144755,C1840404,C564168,,
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,,,
443167,NUT midline carcinoma,Disease,Disorder,,0005563,C80.9,,C1707291,,10078295,
130,Brugada syndrome,Disease,Disorder,BC65.1,0015263,I49.8,616399,C1142166,D053840,10059027,1030
277,Severe combined immunodeficiency due to adenosine deaminase deficiency,Disease,Disorder,4A01.10,0007064,D81.3,102700,C0392607,C531816,10066367,5748
443162,NDE1-related microhydranencephaly,Malformation syndrome,Disorder,,0011504,Q04.8,605013,C1857977,,,10216
443159,Lymphoplasmacytic lymphoma without IgM production,Disease,Disorder,,0018621,C83.0,,C5680061,,,
443101,Hypothalamic adipsic hypernatraemia syndrome,Disease,Disorder,5A61.Y,0018620,E23.3,,C5681196,,,
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,
443811,PGM3-CDG,Disease,Disorder,,0014353,E77.8,615816,C4014371,,,4331
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,,,
443988,Ventriculomegaly-cystic kidney disease,Disease,Disorder,,0009063,Q04.8,219730,C1857423,C565657,,
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,
444099,Autosomal dominant spastic paraplegia type 73,Disease,Disorder,8B44.00,0014568,G11.4,616282,C5568981,,,
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,,,
444002,11q22.2q22.3 microdeletion syndrome,Malformation syndrome,Disorder,,0018632,Q93.5,,C5680062,,,
443995,Mandibulofacial dysostosis with alopecia,Malformation syndrome,Disorder,,0014608,Q75.4,616367,C4225349,,,
444048,"46,XX ovarian dysgenesis-short stature syndrome",Disease,Disorder,,0014520,Q96.8,617690,C4015409,,,
444013,Combined oxidative phosphorylation defect type 23,Disease,Disorder,5C53.2Y,0014525,E88.8,616198,C5567743,,,
444069,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,Malformation syndrome,Disorder,,,Q87.8,243605,C5681197,,,
444051,20q11.2 microdeletion syndrome,Malformation syndrome,Disorder,,0018633,Q93.5,,C5680063,,,
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
444072,Cerebellar-facial-dental syndrome,Malformation syndrome,Disorder,,0014529,Q87.0,616202,C4015495,,,
444463,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency,Disease,Disorder,4A01.21,0018636,D89.8,619220,C5543159,,,
444490,Familial chylomicronemia syndrome,Disease,Disorder,5C80.1,0018637,E78.3,144650,C5442313,,,6414
444316,Idiopathic phalangeal acro-osteolysis,Disease,Disorder,FB86.2,0018635,M89.5,,C5680064,,,
444458,Combined oxidative phosphorylation defect type 24,Disease,Disorder,5C53.23,0014547,E88.8,616239,C4015643,,,
445110,Limb-girdle muscular dystrophy due to POMK deficiency,Disease,Disorder,8C70.41,0014489,G71.0,616094,C4015184,,,
445062,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,Disease,Disorder,5A13.0,0014523,G31.8,616192,C4015436,,,
445038,3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome,Disease,Disorder,5C50.E0,,E71.1,616271,C4225393,,,
445018,Syndromic autoimmune enteropathy due to LRBA deficiency,Disease,Disorder,4A01.21,0013863,D81.8,614700,C3553512,,,13565
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,,,
447737,Combined immunodeficiency due to DOCK2 deficiency,Disease,Disorder,4A01.1Y,0014637,D81.8,616433,C5925035,,,12653
447740,Aggressive periodontitis,Disease,Disorder,,0018643,D71,,C5681199,,,
445197,Secondary vasculitis,Category,Group of disorders,,0018640,,,C5681200,,,
447881,Idiopathic dropped head syndrome,Clinical syndrome,Disorder,,0018654,G72.8,,C3266164,,,
447877,Polymerase proofreading-related polyposis,Disease,Disorder,,0018653,D12.6,615083,C5202613,,,
447896,Tremor-ataxia-central hypomyelination syndrome,Clinical subtype,Subtype of disorder,,0018656,E75.2,607694,C5680067,,,
447893,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,Clinical subtype,Subtype of disorder,,0018655,E75.2,607694,C5681201,,,
447792,OBSOLETE: Hemochromatosis type 5,Disease,Disorder,,,,,,,,
447788,Cerebral visual impairment,Clinical syndrome,Disorder,9C43,0018649,H47.6,,C3810365,,,
447874,Biological anomaly without phenotypic characterization,Category,Group of disorders,,,,,C5681202,,,
447795,Lipoyl transferase 2 deficiency,Biological anomaly,Disorder,,0018651,E88.8,617668,C5681203,,,
447774,Secondary sclerosing cholangitis,Disease,Disorder,DC13,0018647,K83.0,,C0400978,,,
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,,,
447777,Keratocystic odontogenic tumor,Disease,Disorder,2E83.1,0018648,D16.4,,C1708604,,,
447757,Autosomal dominant spastic paraplegia type 9B,Disease,Disorder,8B44.00,18644,G11.4,,C5568979,,,
447753,Autosomal dominant spastic paraplegia type 9A,Disease,Disorder,8B44.00,0011006,G11.4,601162,C5568978,,,9583
447764,IgG4-related sclerosing cholangitis,Clinical subtype,Subtype of disorder,4A43.0,0018645,K83.0,,C4302109,,,
447760,Autosomal recessive spastic paraplegia type 9B,Disease,Disorder,8B44.00,0014702,G11.4,616586,C5568980,,,
412066,PRKAR1B-related neurodegenerative dementia with intermediate filaments,Disease,Disorder,,0018475,G31.8,,C4751505,,,
412057,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,Disease,Disorder,,0014339,G11.1,615768,C5190574,,,
412181,Epidermolysis bullosa simplex due to BP230 deficiency,Disease,Disorder,EC30,0014180,Q81.0,615425,C4750917,,,
412069,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,Malformation syndrome,Disorder,,0014358,Q87.8,615829,C4014419,,,13409
412189,Epidermolysis bullosa simplex due to exophilin 5 deficiency,Disease,Disorder,,0014014,Q81.0,615028,C4750918,,,
412217,Dystonia-aphonia syndrome,Disease,Disorder,,0018476,G24.8,,C5190573,,,
412206,Primary failure of tooth eruption,Disease,Disorder,DA07.6Y,0007434,K00.6,125350,C1852222,C565114,,
412220,OBSOLETE: Ramsay Hunt syndrome type II,Disease,Disorder,,,,,,,,
418959,Squamous cell carcinoma of the stomach,Disease,Disorder,2B72.Y,0006230,C16.8,,C1333789,,,
418945,"Carcinoma of esophagus, salivary gland type",Disease,Disorder,2B70.Y,0018480,C15.0,,C5190854,,,
418951,Undifferentiated carcinoma of esophagus,Disease,Disorder,2B70.Y,0018481,C15.8,,C2188058,,,
420259,Secondary pulmonary alveolar proteinosis,Disease,Disorder,CB04.31,0018483,J84.0,,C3873302,,,
420179,Malan overgrowth syndrome,Malformation syndrome,Disorder,LD2C,0013885,Q87.3,614753,C3553660,,,
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
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,,,
420794,Cono-spondylar dysplasia,Malformation syndrome,Disorder,LD24.3,0018490,Q77.7,,C4707860,,,
420702,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,Disease,Disorder,,0014865,D70,617014,C5190863,,,
420728,Combined oxidative phosphorylation defect type 20,Disease,Disorder,5C53.23,0014397,E88.8,615917,C4014660,,,
420733,Combined oxidative phosphorylation defect type 21,Disease,Disorder,5C53.23,0014398,E88.8,615918,C4706316,,,
420741,RIDDLE syndrome,Malformation syndrome,Disorder,,0012764,D82.8,611943,C2677792,C567453,,
420492,"Adult-onset cervical dystonia, DYT23 type",Disease,Disorder,,0013928,G24.8,614860,C3538999,,,
420485,Cranio-cervical dystonia with laryngeal and upper-limb involvement,Disease,Disorder,,0014019,G24.8,615034,C3554374,,,
420556,Visual snow syndrome,Disease,Disorder,9C4Y,0018486,H53.8,,C4324662,C000726567,10079450,12062
420402,Semicircular canal dehiscence syndrome,Clinical syndrome,Disorder,AB31.3,0018484,H83.8,,C4708600,D000084322,,
420429,"Glycogen storage disease due to acid maltase deficiency, late-onset",Clinical subtype,Subtype of disorder,5C51.3,0018485,E74.0,232300,C3888925,,,
420611,Transient myeloproliferative syndrome,Disease,Disorder,2A60.40,0008040,D47.1,159595,C1834582,C563551,,12765
420584,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0014369,Q87.8,615849,C4014479,,,13349
420699,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,Disease,Disorder,,0018487,D70,619407,C5190862,,,
420686,Woolly hair-palmoplantar keratoderma syndrome,Disease,Disorder,,0014492,Q82.8,616099,C4706686,,,
420561,Temple-Baraitser syndrome,Disease,Disorder,,0012735,Q87.2,611816,C2678486,C567516,,9441
420573,Severe combined immunodeficiency due to CTPS1 deficiency,Disease,Disorder,,0014391,D81.2,615897,C4706524,,,
420566,Bleeding disorder due to CalDAG-GEFI deficiency,Disease,Disorder,3B62.Y,0014386,D69.1,615888,C4510815,,,
423461,Mucolipidosis type III alpha/beta,Clinical subtype,Subtype of disorder,5C56.20,0018931,E77.0,252600,,,,
423470,Mucolipidosis type III gamma,Clinical subtype,Subtype of disorder,5C56.20,0009652,E77.0,252605,C1854896,,,
423454,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,Disease,Disorder,,0014460,Q82.8,616029,C4014987,,,
423384,Severe congenital neutropenia due to JAGN1 deficiency,Disease,Disorder,4B00.00,0014456,D70,616022,C5925036,,,
423296,Spinocerebellar ataxia type 38,Disease,Disorder,8A03.16,0014417,G11.8,615957,C4518337,,,
423306,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0018494,Q87.1,,C4749647,,,
423717,Cutaneous larva migrans,Disease,Disorder,1F68.2,0018500,B76.9,,C0546999,,10059547,1629
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,,,
423712,"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy",Clinical subtype,Subtype of disorder,,0018499,Q24.8,,C5680071,,,
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,,,
423655,ARX-related encephalopathy-brain malformation spectrum,Clinical group,Group of disorders,,,,,C5681206,,,
422526,Hereditary clear cell renal cell carcinoma,Disease,Disorder,,0018492,C64,144700,C1333985,,,9571
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
424065,Pancreatic solid pseudopapillary neoplasm,Disease,Disorder,2C10.0,0018525,C25.8,,C1336029,,,
424058,Intraductal papillary mucinous carcinoma of pancreas,Disease,Disorder,2C10.0,0004285,C25.3,,C1335304,,10073365,
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Disease,Disorder,2C10.0,0006479,C25.8,,C2007059,,,
424073,Serous cystadenocarcinoma of pancreas,Disease,Disorder,2C10.0,0003630,C25.7,,C1335315,,,
424107,Congenital myopathy with myasthenic-like onset,Disease,Disorder,,0018528,G71.2,,C4706390,,,
424099,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,Malformation syndrome,Disorder,LD24.A,0014380,Q87.5,615877,C4707229,,,
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,,,
424016,Adenocarcinoma of the anal canal,Disease,Disorder,2C00.0,0002735,C21.1,,C1332259,,,
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,,,
424019,Squamous cell carcinoma of the anal canal,Disease,Disorder,2C00.3,0004132,C21.1,,C4301960,,,
424039,Squamous cell carcinoma of pancreas,Disease,Disorder,2C10.Y,0018521,C25.8,,C2675993,,,
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,,,
424046,Acinar cell carcinoma of pancreas,Disease,Disorder,2C10.0,0006346,C25.2,,C0279661,,10073363,
423968,Squamous cell carcinoma of the small intestine,Disease,Disorder,2B80.Y,0018509,C17.8,,C4707899,,,
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,,,
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,,,
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,,,
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,,,
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,,,
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
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Disease,Disorder,,0018532,C22.0,,C5192429,,,
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Disease,Disorder,,0018533,C22.0,,C4749401,,,
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,,,
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Disease,Disorder,,0018537,C24.9,,C4707898,,,
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Disease,Disorder,,0018534,C22.0,,C4749400,,,
424982,Biliary cystadenocarcinoma,Disease,Disorder,2C12.1Y,0018535,C22.1,,C0334286,,,
431361,Progressive encephalopathy with leukodystrophy due to DECR deficiency,Disease,Disorder,,0014464,G31.8,616034,C1857252,C565624,,10327
431353,Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,Category,Group of disorders,,0018554,,,C3698354,,,
431341,Patent urachus,Morphological anomaly,Disorder,LB03.0,0018551,Q64.4,,C0266357,,,
431344,Urachal sinus,Morphological anomaly,Disorder,LB03.0,0018552,Q64.4,,C3472657,,,
431347,Urachal diverticulum,Morphological anomaly,Disorder,LB03.0,0018553,Q64.4,,C0431743,,,
431272,X-linked scapuloperoneal muscular dystrophy,Disease,Disorder,8C70.5,0010400,G71.0,300695,C5399872,,,7608
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
431255,Scapuloperoneal spinal muscular atrophy,Disease,Disorder,8B61.4,0008408,G12.1,181405,C0751335,,,10314
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,,,
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,,,
435438,Progressive myoclonic epilepsy type 7,Disease,Disorder,8A61.41,0014521,G40.3,616187,C4015420,,10089657,
435387,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,Disease,Disorder,8C20.1,0014735,G60.0,616687,C5569026,,,
435372,Anterior urethral valve,Morphological anomaly,Disorder,LB31.2,0018560,Q64.7,,C0431755,,,
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,
434809,Syndrome with woolly hair,Category,Group of disorders,,,,,C0345427,,,
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
504476,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,Disease,Disorder,,0044720,G11.2,614575,C3281223,C000726747,10078216,
504523,Severe combined immunodeficiency due to LAT deficiency,Disease,Disorder,4A01.10,0044721,D81.2,617514,C4479588,,,
504530,Combined immunodeficiency due to Moesin deficiency,Disease,Disorder,4A01.1Y,0010514,D81.8,300988,C5568123,,,
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
29072,Hereditary pheochromocytoma-paraganglioma,Disease,Disorder,5A75,0017366,D35.6,614165,C4274332,,,11984
28378,Tyrosinemia type 2,Disease,Disorder,5C50.12,0010160,E70.2,276600,C0268487,,10069463,3105
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
29073,Multiple myeloma,Disease,Disorder,2A83.1,0009693,C90.0,254500,C0026764,D009101,10028228,7108
29822,Spontaneous periodic hypothermia,Disease,Disorder,8D80,0017577,G90.8,,C2931542,C537594,,4815
30391,Isolated biliary atresia,Morphological anomaly,Disorder,LB20.21,0008867,Q44.2,210500,C0005411,D001656,10004654,12010
320,Apparent mineralocorticoid excess,Disease,Disorder,5A76.Y,0009025,E26.8,218030,C0342488,D043204,10080229,433
724,Idiopathic acute eosinophilic pneumonia,Disease,Disorder,CB02.10,0019122,J82,,C4518469,,,519
230,Dopamine beta-hydroxylase deficiency,Disease,Disorder,5C59.00,0009123,G90.8,223360,C0342687,C535600,,1903
725,Developmental and epileptic encephalopathy with spike-wave activation in sleep,Disease,Disorder,8A62.Y,0019123,G40.4,245570,C5552731,,10078827,1513
590,Congenital myasthenic syndrome,Disease,Disorder,8C61,0018940,G70.2,616324,C0751882,D020294,10083942,11902
404,Familial hyperaldosteronism type II,Disease,Disorder,5A72.0,0011576,E26.0,605635,C1854107,C565312,,2789
756,Pseudohypoaldosteronism type 1,Disease,Disorder,GB90.41,0019161,N25.8,264350,C0268436,,,
162,Congenital cataract-anterior segment dysgenesis syndrome,Malformation syndrome,Disorder,LA11.2,0015567,Q12.0,,C5925037,,,1160
544,Diffuse large B-cell lymphoma,Clinical group,Group of disorders,2A81,0018905,C83.3,,C0079744,D016403,10012818,3178
545,Follicular lymphoma,Disease,Disorder,2A80,0018906,C82.0,613024,C0024301,D008224,10085128,2356
88,Idiopathic aplastic anemia,Disease,Disorder,3A70.12,0012197,D61.3,614743,C0348890,C538494,10054580,
102,Multiple system atrophy,Disease,Disorder,8D87.0,0007803,G23.2,146500,C0393571,D019578,10064060,7079
824,Primary myelofibrosis,Disease,Disorder,2A20.2,0009692,D47.4,254450,C0001815,D055728,10077161,8618
748,Mendelian susceptibility to mycobacterial diseases,Clinical group,Group of disorders,,0019146,,,C3266863,,,12977
729,Polycythemia vera,Disease,Disorder,2A20.4,9891,D45,263300,C0032463,D011087,10036057,7422
25980,X-linked myopathy with excessive autophagy,Disease,Disorder,4A41.21,0010684,G71.8,310440,C1839615,C564093,,3892
26137,Juvenile temporal arteritis,Disease,Disorder,4A44.Y,0016848,L95.8,,C0751547,,,3068
26106,Hereditary diffuse gastric cancer,Disease,Disorder,2B72.Y,0007648,C16.9,137215,C4721859,,,10900
505395,Ventilator-induced diaphragmatic dysfunction,Particular clinical situation in a disease or syndrome,Disorder,NE8Y,,J95.8,,C5680083,,,
25968,Self-limited childhood occipital epilepsy,Disease,Disorder,8A61.2Y,0007558,G40.0,132090,C1851549,,,2170
807,Sebastian syndrome,Clinical subtype,Subtype of disorder,,,,,C1854520,C537531,,
26790,Pseudomyxoma peritonei,Disease,Disorder,2D91,0017048,C78.6,,C0033822,D011553,10037138,7488
26792,Short chain acyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0008722,E71.3,201470,C0342783,C537596,10072655,4822
26791,Multiple acyl-CoA dehydrogenase deficiency,Disease,Disorder,5C52.01,0009282,E71.3,231680,C0268596,D054069,10090590,6523
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,
620,NON RARE IN EUROPE: Common mesentery,Morphological anomaly,Disorder,,,,,,,,
831,Congenital cervical spinal stenosis,Disease,Disorder,,0019357,Q06.8,,C4749275,,,
49,Penile agenesis,Morphological anomaly,Disorder,LB50,0018846,Q55.5,,C4551491,C536649,10087156,4272
227,Diphallia,Morphological anomaly,Disorder,LB5Y,0016416,Q55.6,,C0345322,,,1872
674,Accessory pancreas,Morphological anomaly,Disorder,LB21.2,0019034,Q45.3,,C0266268,C536003,10056987,454
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
219,Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,Disease,Disorder,8C70.41,0011028,G71.0,601287,C1832525,C535896,,8573
641,Multifocal motor neuropathy,Disease,Disorder,8C01.3,0018979,G61.8,,C0393847,,10065579,11011
119,Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,Disease,Disorder,8C70.41,0011423,G71.0,604286,C1858593,C535902,,3851
603,"Distal myopathy, Welander type",Disease,Disorder,8C75,0011466,G71.0,604454,C0221054,,10078052,5552
505227,Combined immunodeficiency due to GINS1 deficiency,Disease,Disorder,4A01.1Y,0044725,D81.8,617827,C5568132,,,
588,Muscle-eye-brain disease,Malformation syndrome,Disorder,8C70.6,0018939,G71.0,615350,C0457133,,10089751,156
505237,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,Malformation syndrome,Disorder,,0044319,Q87.8,617452,C5568770,,,
899,Walker-Warburg syndrome,Disease,Disorder,8C70.6,0000171,G71.0,616538,C0265221,D058494,,2599
505216,3-methylglutaconic aciduria type 9,Disease,Disorder,5C50.E0,0044724,E71.1,617698,C4540171,,,
272,"Congenital muscular dystrophy, Fukuyama type",Malformation syndrome,Disorder,8C70.6,0009678,G71.0,253800,C0410174,,,6475
505208,3-methylglutaconic aciduria type 8,Disease,Disorder,5C50.E0,0044723,E71.1,617248,C5680084,,,
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
278,OBSOLETE: Corticobasal degeneration,Disease,Disorder,,,,,,,,
263,Limb-girdle muscular dystrophy,Clinical group,Group of disorders,8C70.4,0016971,,,C0686353,D049288,,6907
600,Vocal cord and pharyngeal distal myopathy,Disease,Disorder,8C75,0018951,G71.0,606070,C1853723,C565262,,1887
505248,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,Malformation syndrome,Disorder,,0015012,Q87.8,617303,C5568800,,,
609,Tibial muscular dystrophy,Disease,Disorder,8C75,0010870,G71.0,600334,C1450052,,,
602,GNE myopathy,Disease,Disorder,8C75,0011603,G71.8,617158,C1853926,C536816,10077945,9493
505242,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,Disease,Disorder,,0044726,E83.2,617595,C5568771,,,
508093,MEPAN syndrome,Malformation syndrome,Disorder,,0015003,E88.8,617282,C4310634,,,13488
508533,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,Disease,Disorder,,0033682,Q87.8,617425,C5567899,,,
508542,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,Disease,Disorder,,0033683,Q87.8,618116,C5567897,,,
508410,Familial intestinal malrotation,Morphological anomaly,Disorder,,0034819,Q43.3,,C0221210,,,
508512,Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,Disease,Disorder,,0034991,Q87.1,618097,C5567901,,,
508529,Intermediate epidermolysis bullosa simplex with cardiomyopathy,Disease,Disorder,,0015006,Q81.0,617294,C5555869,,,
508523,Hyperphenylalaninemia due to DNAJC12 deficiency,Disease,Disorder,,0044304,E70.1,617384,C5567900,,,
508488,8q24.3 microdeletion syndrome,Malformation syndrome,Disorder,LD44.80,0014263,Q93.5,615583,C3810023,,,12814
508476,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,Malformation syndrome,Disorder,LD25.Y,0034820,Q87.8,621063,C5568767,,,
508501,Orofaciodigital syndrome type 18,Malformation syndrome,Disorder,,0034823,Q87.0,617927,C5567903,,,
508498,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,Malformation syndrome,Disorder,LD2F.1Y,0034989,Q87.8,615583,C5568572,,,
505652,CDKL5-deficiency disorder,Disease,Disorder,,0010396,G40.4,300672,C4750718,C564064,10083005,12173
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
506307,Stromme syndrome,Malformation syndrome,Disorder,,9477,Q13.8,243605,C1855705,C565460,,
506358,Gabriele-de Vries syndrome,Malformation syndrome,Disorder,,0044738,Q87.8,617557,C4479652,,,
506353,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,Disease,Disorder,,0044737,G11.4,618768,C5568576,,,
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,,,
506075,Non-functioning neuroendocrine tumor of pancreas,Disease,Disorder,2C10.1,0004334,C25.4,,C1334977,C536126,,
495274,Charcot-Marie-Tooth disease type 2T,Disease,Disorder,,0044640,G60.0,617017,C4015635,,,
495844,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,Disease,Disorder,,0044642,G93.8,616881,C5567456,,,
495818,9q33.3q34.11 microdeletion syndrome,Malformation syndrome,Disorder,,0044641,Q93.5,,C5680085,,,
495879,Congenital agenesis of the scrotum,Morphological anomaly,Disorder,,0044644,Q55.2,,C1387020,,,
495875,Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0044643,Q87.8,618479,C5567455,,,
495930,Familial monosomy 7 syndrome,Disease,Disorder,,0044645,D46.7,252270,C5681220,,,3765
496641,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,Malformation syndrome,Disorder,,0044646,G93.4,617193,C5567454,,,
496686,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,Disease,Disorder,,0044647,G71.2,617114,C5567453,,,
496689,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,Disease,Disorder,,0044648,G11.4,,C5567452,,,
496693,Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,Malformation syndrome,Disorder,LD2F.1Y,0044649,Q87.8,609545,C1836007,C563701,,10354
496751,EVEN-plus syndrome,Malformation syndrome,Disorder,,0014801,Q87.8,616854,C4225180,,,
496756,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,Disease,Disorder,,0044651,G31.8,617207,C5567451,,,
496790,Ocular anomalies-axonal neuropathy-developmental delay syndrome,Disease,Disorder,5D0Y,0014958,E88.8,617183,C4310677,,,
494433,MIRAGE syndrome,Disease,Disorder,5A70.Y,0014888,D46.7,617053,C4284088,,,13108
494439,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,Malformation syndrome,Disorder,,0044634,Q87.8,617763,C5567466,,,
494424,Extracranial carotid artery aneurysm,Morphological anomaly,Disorder,BD51.0,0044632,I72.0,,C0340639,,,
494428,Idiopathic pleuroparenchymal fibroelastosis,Disease,Disorder,CB03.Y,0044633,J84.1,,C5567467,,,
494451,Vulvar basal cell carcinoma,Histopathological subtype,Subtype of disorder,2C70.0,0002955,C51.8,,C1336977,,10082639,
494454,Vulvar adenocarcinoma,Histopathological subtype,Subtype of disorder,,0024336,C51.8,,C1336975,,10063536,
494444,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,Disease,Disorder,LD2H.Y,0044635,H90.3,124900,C1852282,C565121,,
494448,Vulvar squamous cell carcinoma,Histopathological subtype,Subtype of disorder,2C70.2,0024609,C51.8,,C0280856,,10041875,
494344,RERE-related neurodevelopmental syndrome,Malformation syndrome,Disorder,,14857,Q87.8,616975,C5567477,,,
494418,Vulvar carcinoma,Disease,Disorder,2C70,0005215,C51.8,,C0677055,,,9349
494421,Sacrococcygeal teratoma,Clinical subtype,Subtype of disorder,,0042727,C41.4,,C0559459,,,319
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,
494541,Childhood-onset benign chorea with striatal involvement,Disease,Disorder,,0044332,G25.5,616922,C5567463,,,
494526,Infantile-onset generalized dyskinesia with orofacial involvement,Disease,Disorder,,0044637,G24.8,616921,C5567464,,,
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,
500180,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,Disease,Disorder,,0044701,G31.8,617672,C5567227,,,13658
500188,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,Malformation syndrome,Disorder,LD2H.Y,0044702,H91.8,301018,C5567226,,,
68,Amoebiasis due to free-living amoebae,Disease,Disorder,1A36.12,0019036,B60.2,,C0153326,,,12650
781,Q fever,Disease,Disorder,DB98.3,0019186,A78,,C0034362,D011778,10037688,7515
500150,ZTTK syndrome,Malformation syndrome,Disorder,,0014936,Q87.8,617140,C4310696,,10081208,13489
500159,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,Malformation syndrome,Disorder,,0030913,Q87.0,617751,C4540321,,,
500163,Witteveen-Kolk syndrome,Malformation syndrome,Disorder,,0044699,Q87.8,613406,C4310804,,,
302,Inherited epidermodysplasia verruciformis,Disease,Disorder,1E83,0009176,B07,618267,C0014522,D004819,10052339,6357
297,Tick-borne encephalitis,Disease,Disorder,1C80,0017572,A84.9,,C0014061,D004675,10043847,5216
500166,SIN3-related intellectual disability syndrome due to a point mutation,Etiological subtype,Subtype of disorder,,0044700,Q87.8,613406,C5925038,,,
182,Chromomycosis,Disease,Disorder,1F24,0015908,B43.8,,C0008582,D002862,10008803,1319
128,Diphyllobothriasis,Disease,Disorder,1F71,0015260,B70.0,,C0012561,D004169,10013029,942
283,Demodicidosis,Disease,Disorder,1G07.0,0017280,B88.0,,C0392666,,10075310,1802
210,Cyclosporiasis,Disease,Disorder,1A3Y,0005725,A07.3,,C4274225,,,9528
76,Strongyloidiasis,Disease,Disorder,1F6B,0005974,B78.7,,C0038463,D013322,10042254,8195
74,Angiostrongyliasis,Disease,Disorder,1F60.1,0019143,B83.2,,C0392662,C536369,10069517,683
108,Babesiosis,Disease,Disorder,1F52,0005661,B60.0,,C0004576,D001404,10003965,5878
78,Ankylostomiasis,Disease,Disorder,1F68.0,0005645,B76.0,,C0002831,D000724,10002255,9742
500135,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,Malformation syndrome,Disorder,,0009359,Q87.8,236500,C1856053,,,
500144,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,Malformation syndrome,Disorder,,0044696,Q07.8,617669,C5567229,,,
500055,Hao-Fountain syndrome due to 16p13.2 microdeletion,Etiological subtype,Subtype of disorder,,0100528,Q93.5,616863,C5680086,,,
500095,Tall stature-intellectual disability-renal anomalies syndrome,Malformation syndrome,Disorder,LD2C,0014918,Q87.3,617107,C4310715,,,
500062,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,Disease,Disorder,4A60.Y,0014912,D89.8,617099,C4310614,,,13198
129,Pseudopelade of Brocq,Disease,Disorder,ED70.5Y,0015261,L66.0,,C0086873,,,4536
123,Björnstad syndrome,Disease,Disorder,EC21.1,0009872,E88.8,262000,C0266006,C537633,,22
898,Wagner disease,Disease,Disorder,9B80,0007740,H35.5,143200,C1840452,C536075,10063383,7871
500478,Squamous cell carcinoma of the oropharynx,Disease,Disorder,2B6A.0,0044704,C10.8,275355,C0280313,,10031112,
518,Acute megakaryoblastic leukemia,Disease,Disorder,2A60.36,0018872,C94.2,,C0023462,D007947,10000860,524
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
514,Acute monoblastic/monocytic leukemia,Disease,Disorder,2A60.34,0007896,C93.0,,C3831784,D007948,,525
517,Acute myelomonocytic leukemia,Disease,Disorder,2A60.33,0018871,C92.5,,C0023479,D015479,10000890,529
505,Graham Little-Piccardi-Lassueur syndrome,Disease,Disorder,EA91.2,0018858,L66.1,,C4273658,,,3195
346,Quinquaud folliculitis decalvans,Disease,Disorder,ED70.50,0018103,L66.2,,C2608043,,10063921,373
222,Erosive pustular dermatosis of the scalp,Disease,Disorder,EG30.1,0016379,L98.8,,C0406464,,,2188
202,Crandall syndrome,Disease,Disorder,,0016067,,,C0432348,,,1561
170,Woolly hair,Disease,Disorder,EC21.0,0008686,Q84.1,616760,C0343073,C536745,10048017,5597
500548,Osteosclerotic metaphyseal dysplasia,Malformation syndrome,Disorder,,0014080,Q78.5,615198,C3554665,,,
169,Ringed hair disease,Disease,Disorder,EC21.0,0008388,Q84.1,180600,C0263489,C537187,,4359
500533,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,Disease,Disorder,,0012611,G40.4,611087,C1970203,C567020,,12913
168,Loose anagen syndrome,Disease,Disorder,EC21.0,0010908,L65.1,600628,C0406468,D058247,10085066,3287
500545,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,Disease,Disorder,,0044306,F84.8,617393,C5568106,,,
345,Dissecting cellulitis of the scalp,Disease,Disorder,ED70.51,0009848,L66.3,260910,C0263506,C562486,10056961,1883
591,Furuncular myiasis,Disease,Disorder,1G01.3,0018941,B87.0,,C2931766,C538194,,2418
723,Pneumocystosis,Disease,Disorder,1F2G,0019121,J17.2*,,C5779637,D011020,10035662,4386
472,Isosporiasis,Disease,Disorder,1A33,0018769,A07.3,,C0311386,D021865,10023076,3033
504,Creeping myiasis,Disease,Disorder,1G01.3,0018857,B87.0,,C1562462,D007815,,1609
401,Hymenolepiasis,Disease,Disorder,1F74,0005802,B71.0,,C0020413,D006925,10020546,2787
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
500464,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,Disease,Disorder,,,D02.3,275355,C0280332,,,
520,Acute promyelocytic leukemia,Disease,Disorder,2A60.0,0012883,C92.4,612376,C0023487,D015473,10001019,538
450,Visceral heterotaxy,Category,Group of disorders,,0018677,Q89.3,617205,C3178805,D059446,10067265,10875
529,Roch-Leri mesosomatous lipomatosis,Disease,Disorder,,0018884,E88.2,,C4274284,,,4733
224,Neonatal diabetes mellitus,Category,Group of disorders,KB60.2,0016391,P70.2,,C0158981,,10028933,
826,Sporotrichosis,Disease,Disorder,1F2J,0005968,B42.9,,C0038034,D013174,10041736,7692
879,Tungiasis,Disease,Disorder,1G05,0019498,B88.1,,C0277356,D058285,,393
502305,Cochleovestibular malformation,Morphological anomaly,Disorder,LA22.4,44709,Q16.5,,C5761642,,,
502318,Cochlear nerve deficiency,Morphological anomaly,Disorder,AB72.Y,0034733,H93.3,,C5568535,,,
502363,Squamous cell carcinoma of the oral cavity,Disease,Disorder,,0004958,C06.9,275355,C0585362,,10041857,
502366,Squamous cell carcinoma of the lip,Disease,Disorder,2B60.1,0021427,C00.1,275355,C0280302,,10064055,
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,,,
502430,Weiss-Kruszka Syndrome,Malformation syndrome,Disorder,,0044715,Q87.8,618619,C5568107,,,
502434,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,Malformation syndrome,Disorder,,0030912,Q87.0,617635,C5568769,,,
502437,4q25 proximal deletion syndrome,Malformation syndrome,Disorder,,0044717,Q93.5,,C5680087,,,
502499,Erythema multiforme major,Disease,Disorder,,0044719,L51.8,,C3241919,,,
502444,Alkaline ceramidase 3 deficiency,Disease,Disorder,,0044718,E75.2,617762,C4540358,,,
432,Normosmic congenital hypogonadotropic hypogonadism,Clinical subtype,Subtype of disorder,5A61.0,0018555,E23.0,615270,C5680088,,,
91,Aromatase deficiency,Disease,Disorder,5A9Y,0013301,E25.8,613546,C1960539,C537436,,365
785,Estrogen resistance syndrome,Disease,Disorder,5A90,0014148,E30.8,615363,C4510972,,,
625,NON RARE IN EUROPE: Atypical mole,Disease,Disorder,,,,,,,,
873,Desmoid tumor,Disease,Disorder,,0007608,D48.1,135290,C0079218,,10059352,1820
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
901,Wells syndrome,Disease,Disorder,EB30,0019547,L98.3,,C0343101,C536693,10053776,329
703,Bullous pemphigoid,Disease,Disorder,EB41.0,0019082,L12.0,,C0030805,D010391,10006567,5972
841,Sebocystomatosis,Disease,Disorder,2F22,0008485,L72.2,184500,C0259771,D062685,10048905,5003
817,Peeling skin syndrome,Clinical group,Group of disorders,EC20.1,0019347,,,C1849193,C564818,,7347
830,NON RARE IN EUROPE: Stuccokeratosis,Disease,Disorder,,,,,,,,
867,Familial multiple trichoepithelioma,Clinical subtype,Subtype of disorder,2F22,0011114,D23.5,612099,C1275122,,,
735,Porokeratosis of Mibelli,Disease,Disorder,ED52,0019141,Q82.8,175900,C0949506,,,4438
497906,Childhood-onset basal ganglia degeneration syndrome,Disease,Disorder,,0014889,G31.8,617054,C4310743,,,
659,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,Disease,Disorder,EC20.30,0031421,Q82.8,619208,C0406761,,10068842,4075
737,Porokeratosis plantaris palmaris et disseminata,Disease,Disorder,EC20.32,0008291,Q82.8,175850,C0162838,,,
736,Palmoplantar porokeratosis of Mantoux,Disease,Disorder,,,,,,,,
497623,C12ORF65-related combined oxidative phosphorylation defect,Clinical group,Group of disorders,,,,,C5680089,,,
523,Hereditary leiomyomatosis and renal cell cancer,Disease,Disorder,2C90.Y,0007888,C64,150800,C1708350,C535516,10077859,10096
497737,Epidermolytic nevus,Disease,Disorder,LC00.Y,0044656,Q82.5,,C1302848,,,
314,Erythroderma desquamativum,Disease,Disorder,EH40.2,0017787,L21.1,609536,C5551904,,,6878
623,NAME syndrome,Disease,Disorder,,,,,,,,
497757,MME-related autosomal dominant Charcot Marie Tooth disease type 2,Disease,Disorder,,0044657,G60.0,617017,C5567450,,,
497764,Spinocerebellar ataxia type 43,Disease,Disorder,8A03.16,0014867,G11.2,617018,C4310763,,,
530,Lipoid proteinosis,Malformation syndrome,Disorder,LD27.Y,0009530,E78.8,247100,C0023795,D008065,10051661,3268
493,Familial keratoacanthoma,Disease,Disorder,2C31.1,0018851,L85.8,,C5848325,C536150,,
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
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,
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,,,
488,Urachal cyst,Morphological anomaly,Disorder,LB03.0,0018844,Q64.4,,C0041915,D014496,10065375,5425
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,
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
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
721,Gray platelet syndrome,Disease,Disorder,3B62.00,0007686,D69.1,187900,C0272302,D055652,,2562
498445,Genetic inflammatory or rheumatoid-like osteoarthropathy,Category,Group of disorders,,,,,C5681235,,,
722,Hypoplasminogenemia,Disease,Disorder,DA0D.3,0009009,L90.5,217090,C1968804,,,4380
749,Congenital prekallikrein deficiency,Disease,Disorder,3B15,0012901,D68.8,612423,C0272339,C562725,,4477
853,Fetal and neonatal alloimmune thrombocytopenia,Disease,Disorder,3B64.00,0019415,P61.0,,C3854603,,,2295
483,Congenital high-molecular-weight kininogen deficiency,Disease,Disorder,3B15,0009234,D68.8,228960,C0272340,,,2684
498359,Aquagenic palmoplantar keratoderma,Disease,Disorder,EK5Y,0044663,L85.1,,C4087301,,,12991
852,X-linked thrombocytopenia with normal platelets,Etiological subtype,Subtype of disorder,3B62.0Y,0010743,D69.4,313900,C5548213,,,5176
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
498345,Biliary atresia and associated disorders,Category,Group of disorders,,,,,C5681238,,,
310,Reflex epilepsy,Clinical group,Group of disorders,8A61.40,0017768,,,C0270857,D020195,,
498251,Menstrual cycle-dependent periodic fever,Disease,Disorder,GA20.Y,0044660,N94.8,614674,C3553418,,,
1332,Medullary thyroid carcinoma,Disease,Disorder,2D10.4,0015277,C73,,C0238462,C536914,10027101,7004
877,Neuroendocrine neoplasm,Category,Group of disorders,,0019496,,,C0206754,D018358,10052399,9316
73,Gorham-Stout disease,Malformation syndrome,Disorder,FB86.2,0007414,M89.5,123880,C0029438,,10071283,6542
498228,Phyllodes tumor of the prostate,Disease,Disorder,,0021102,C61,,C1335409,,,9404
728,Relapsing polychondritis,Disease,Disorder,FB82.3,0019125,M94.1,,C0032453,D011081,10038304,7417
467,Non-acquired combined pituitary hormone deficiency,Category,Group of disorders,,0018762,,,C5680091,,,2252
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
143,Parathyroid carcinoma,Disease,Disorder,2D12.Y,0012004,C75.0,608266,C0687150,D010282,,7329
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
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
1461,Criss-cross heart,Morphological anomaly,Disorder,LA81,0015449,Q24.8,,C0010334,D003420,,
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,,,
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
615,Familial atrial myxoma,Disease,Disorder,2F01,0009719,D15.1,255960,C1850635,C538262,,139
498700,OBSOLETE: Limbic encephalitis with neurexin-3 antibodies,Disease,Disorder,,,,,,,,
874,Primary adult heart tumor,Disease,Disorder,2F01,0019493,D15.1,,C4275152,,,
499009,Congenital syphilis,Disease,Disorder,1A60,0005714,A50.1,,C0039131,D013590,10010641,
499004,OBSOLETE: Tuberculous meningitis,Disease,Disorder,,,,,,,,
1330,Partial atrioventricular septal defect,Morphological anomaly,Disorder,LA87.40,0015275,Q21.2,,C0344735,C536112,,4229
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,,,
498497,Short rib-polydactyly syndrome type 5,Malformation syndrome,Disorder,,0013569,Q77.2,614091,C5681240,,,
720,Pili bifurcati,Disease,Disorder,ED73.Y,0019120,L67.8,,C5574653,,,
671,Primary cutis verticis gyrata,Clinical group,Group of disorders,EE7Y,0019033,,,C0263417,,10080996,1643
864,Trichofolliculoma,Disease,Disorder,,0019445,D23.4,,C0334262,C536553,10044611,5263
498602,Sugarman brachydactyly,Morphological anomaly,Disorder,,0010087,Q71.8,272150,C5399870,,,5058
719,OBSOLETE: Pili canulati,Disease,Disorder,,,,,,,,
247,Inherited arrhythmogenic cardiomyopathy,Clinical group,Group of disorders,BC43.6,0016587,,,C0349788,D019571,10058093,
498693,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,Disease,Disorder,,0044682,Q74.3,,C5680092,,,
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
2221,Acquired hypertrichosis lanuginosa,Disease,Disorder,EL10,0016380,L68.1,,C0343072,,,2864
498474,Hyaline fibromatosis syndrome,Disease,Disorder,EE6Y,0009229,Q82.8,,C5574677,,,
492,Proliferating trichilemmal cyst,Disease,Disorder,,0018850,L72.1,,C2959585,,,4509
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,,,
499,Kerion celsi,Disease,Disorder,1F28.4,0010146,B35.0,,C0276742,,,3109
498485,Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,Malformation syndrome,Disorder,LD2C,0012131,Q87.3,608811,C1837316,C537355,,10066
573,Monilethrix,Disease,Disorder,EC21.0,0008009,Q84.1,621169,C0546966,D056734,,93
498488,Overgrowth syndrome with 2q37 translocation,Malformation syndrome,Disorder,LD2C,0034676,Q87.3,,C5567236,,,
525,Lichen planopilaris,Disease,Disorder,EA91.2,0018879,L66.1,,C0023645,C535892,10081142,3247
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
840,Syringocystadenoma papilliferum,Disease,Disorder,LC0Y,0019392,D23.9,,C0406803,,10042926,5100
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
315,Erythrokeratoderma ''en cocardes'',Disease,Disorder,,0017836,Q82.8,,C5848050,,,1722
338,Familial multiple fibrofolliculoma,Disease,Disorder,,,,,,,,
409,Hyperkeratosis lenticularis perstans,Disease,Disorder,ED5Y,0007756,L98.8,144150,C0263420,C538377,10071311,2824
496,Thost-Unna palmoplantar keratoderma,Disease,Disorder,,,,,,,,
41,Dyschromatosis symmetrica hereditaria,Disease,Disorder,EC23.Y,0007483,L81.8,127400,C0406775,C535729,,334
122,Birt-Hogg-Dubé syndrome,Malformation syndrome,Disorder,LD27.5,0800445,C64,135150,C0346010,D058249,10067736,2322
38,Acrokeratoelastoidosis of Costa,Disease,Disorder,EC20.32,0007047,Q82.8,101850,C0545044,C535653,,125
39,Acromelanosis,Disease,Disorder,,0018311,L81.4,,C0406779,,,4500
241,Dyschromatosis universalis hereditaria,Disease,Disorder,EC23.Y,0000736,L81.8,615402,C2930995,C535730,,1996
316,Progressive symmetric erythrokeratodermia,Disease,Disorder,EC20.0Y,,Q82.8,617756,,,,
211,Familial cylindromatosis,Clinical subtype,Subtype of disorder,2F22,0007565,D23.5,132700,C1851526,C536611,,
435,OBSOLETE: Ito hypomelanosis,Disease,Disorder,,,,,,,,
658,Non-histaminic angioedema,Clinical group,Group of disorders,,0019013,,,C0002994,,,
3282,Multifocal atrial tachycardia,Disease,Disorder,BC81.Y,0017988,I47.1,,C0221158,,,1235
188,Systemic capillary leak syndrome,Disease,Disorder,BD5Y,,I78.8,,C0343084,D019559,10007196,1084
303,Dystrophic epidermolysis bullosa,Clinical group,Group of disorders,EC32,0006543,Q81.2,,C0079294,D016108,,2150
305,Junctional epidermolysis bullosa,Clinical group,Group of disorders,EC31,0017612,,,C0079301,D016109,,2152
3406,Ulerythema ophryogenesis,Disease,Disorder,ED56,0018086,L66.4,604093,C5700076,C537412,,5395
499182,Pilomatrix carcinoma,Disease,Disorder,,0003414,C44.4,,C0585475,,10075614,
2908,Kindler epidermolysis bullosa,Disease,Disorder,LD2B,0008260,Q81.8,173650,C0406557,C536321,,4391
81,Antisynthetase syndrome,Disease,Disorder,4A43.Y,0019344,M35.8,,C2609059,C537778,10068801,735
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
764,Pyomyositis,Disease,Disorder,FB30,0019168,M60.0,,C0041188,D052880,10037652,4614
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
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
889,Cutaneous small vessel vasculitis,Disease,Disorder,EF40.1,0019509,M31.0,,C0151436,,,7851
482,Kimura disease,Disease,Disorder,4B2Y,0018830,D21.9,,C0033838,D000082242,10048640,6835
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,
486811,Prenatal-onset spinal muscular atrophy with congenital bone fractures,Disease,Disorder,,0000209,G12.8,616867,C5567518,,,
486815,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,Disease,Disorder,,0014896,G71.0,617066,C4310736,,,
485418,EMILIN-1-related connective tissue disease,Disease,Disorder,,0044622,G60.8,620080,C5681244,,,
485421,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,Etiological subtype,Subtype of disorder,5C5Y,0014905,E88.8,617086,C4310726,,,
485382,Rare genetic premature ovarian failure,Category,Group of disorders,,,,,C5925042,,,
485405,16p12.1p12.3 triplication syndrome,Malformation syndrome,Disorder,,0044621,Q93.7,,C5680097,,,
485350,CLCN4-related X-linked intellectual disability syndrome,Disease,Disorder,LD90,0010250,F78.1,300114,C0796221,,,
485358,Propylthiouracil embryofetopathy,Malformation syndrome,Disorder,LD2F.0Y,0044619,Q06.8,,C5567519,,,
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,,,
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,,,
31828,Digitalis poisoning,Particular clinical situation in a disease or syndrome,Disorder,NE60,0017863,T46.0,,C0274726,,,
480864,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,Disease,Disorder,8E4Y,0018820,G31.8,616878,C5567524,,,13423
31837,Pulmonary venoocclusive disease,Disease,Disorder,BB01.0,0009937,J98.4,265450,C0034091,D011668,10037458,10153
480907,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,Malformation syndrome,Disorder,LD90,0018823,Q87.0,300966,C4225418,,,
480898,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,Disease,Disorder,,0018822,Q87.8,616875,C5567522,,,
480880,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,Malformation syndrome,Disorder,,0018821,Q87.8,300968,C5567523,,,13638
31740,Hypersensitivity pneumonitis,Disease,Disorder,CA70,0017853,J67.8,145300,C0002390,D000542,10081988,12
480556,Isolated neonatal sclerosing cholangitis,Disease,Disorder,DB96.2Y,0018816,K83.0,617394,C5681248,,,
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,,,
480851,Hereditary thrombocytopenia with early-onset myelofibrosis,Disease,Disorder,3B64.01,0014837,D69.4,616937,C4310789,,,
31827,Paraquat poisoning,Disease,Disorder,NE61,0017862,T60.3,,C0413070,,,
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,,,
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,,,
31825,Methanol poisoning,Disease,Disorder,NE61,0017860,T51.1,,C0392621,,,
481665,Pseudo-TORCH syndrome type 2,Disease,Disorder,,0018828,Q04.8,617397,C4479376,,,
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,,,
481771,Genetic alopecia,Category,Group of disorders,,,,,C5681251,,,
481986,Familial schizencephaly,Etiological subtype,Subtype of disorder,LA05.61,0018829,Q04.6,269160,C2931870,C538514,,
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,,,
481469,OBSOLETE: Gastric neuroendocrine tumor type 1,Clinical subtype,Subtype of disorder,,,,,,,,
481662,Familial Chilblain lupus,Disease,Disorder,,0018827,L93.2,614415,C5688224,,10090201,
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,,,
480491,MYO5B-related progressive familial intrahepatic cholestasis,Clinical subtype,Subtype of disorder,5C58.03,0018804,K76.8,619868,C5680100,,,
480483,Progressive familial intrahepatic cholestasis type 4,Clinical subtype,Subtype of disorder,,0014381,K76.8,615878,C2931067,,,9803
480528,Lethal hydranencephaly-diaphragmatic hernia syndrome,Malformation syndrome,Disorder,,0018810,Q87.8,,C5567527,,,
480524,Idiopathic peliosis hepatis,Disease,Disorder,DB98.1,0018809,K76.4,,C5680101,,,
480536,MSH3-related polyposis,Disease,Disorder,2B90.Y,0018812,D12.6,617100,C4310719,,,
480531,Congenital portosystemic shunt,Morphological anomaly,Disorder,DB98.Y,0018811,Q26.5,,C1290495,,,
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,,
480520,Caroli syndrome,Malformation syndrome,Disorder,LB20.00,0018808,Q44.6,,C5848202,,,
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,,,
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,,,
477787,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,Disease,Disorder,3B62.00,0018794,D69.1,618372,C5567651,,,
478029,Combined oxidative phosphorylation defect type 29,Disease,Disorder,,0014781,E88.8,616811,C5567607,,,
478042,Combined oxidative phosphorylation defect type 30,Disease,Disorder,,0014856,E88.8,616974,C5567605,,,
477993,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,Malformation syndrome,Disorder,,0014751,Q87.8,616728,C5567644,,,
477857,Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,Disease,Disorder,,0014710,D84.8,616622,C5567647,,,
477817,PMP22-RAI1 contiguous gene duplication syndrome,Malformation syndrome,Disorder,,0014723,Q92.3,616652,C4225255,,,
477831,Kosaki overgrowth syndrome,Malformation syndrome,Disorder,LD2C,0014704,Q87.3,616592,C4225270,,10081313,
478049,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,Disease,Disorder,5D0Y,0014976,E88.8,617228,C5567603,,,
478664,Hereditary sensory and autonomic neuropathy type 8,Disease,Disorder,,14662,G60.8,616488,C4225308,,,
477647,Type 1 interferonopathy,Category,Group of disorders,,,,,C5394397,,,
477650,Fibroblastic rheumatism,Disease,Disorder,FB51.3,0018783,M06.4,,C1302753,,,
477668,OBSOLETE: AymÚ-Gripp syndrome,Malformation syndrome,Disorder,,,,,,,,
477661,IL21-related infantile inflammatory bowel disease,Disease,Disorder,DD7Y,0014338,D84.8,615767,C5567788,,,
477684,Combined oxidative phosphorylation defect type 26,Disease,Disorder,,0014684,E88.8,616539,C5567741,,,
477673,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,Disease,Disorder,,0014567,G11.4,616281,C5567787,,,
477738,Pediatric multiple sclerosis,Disease,Disorder,,0018784,G35,,C5568571,,,10443
477697,OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome,Disease,Disorder,,,,,,,,
477749,Pontine autosomal dominant microangiopathy with leukoencephalopathy,Disease,Disorder,,0032814,I67.8,618564,C5231411,,,
477742,Nodular fasciitis,Disease,Disorder,FB51.2,0004187,M79.8,,C0410005,,10065988,
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,,,
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,,,
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,,,
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,,,
476406,Congenital generalized hypercontractile muscle stiffness syndrome,Disease,Disorder,,0018780,G71.2,,C5567789,,,
476394,PMP2-related Charcot-Marie-Tooth disease type 1,Disease,Disorder,,0033135,G60.0,618279,C5567891,,,
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
493348,OBSOLETE: Vibratory angioedema,Disease,Disorder,,,,,,,,
488642,TELO2-related intellectual disability-neurodevelopmental disorder,Malformation syndrome,Disorder,,0014848,Q87.8,616954,C4310778,,,
488647,DDX41-related hematologic malignancy predisposition syndrome,Disease,Disorder,,0014809,C96.7,616871,C5567478,,,
488650,"Distal myopathy, Tateyama type",Disease,Disorder,,0013686,G71.0,614321,C3280443,,,
488618,Transketolase deficiency,Malformation syndrome,Disorder,5C51.0,0014881,E88.8,617044,C1291328,,,
488627,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,Malformation syndrome,Disorder,,0014886,Q87.8,617051,C5567481,,,
488632,TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome,Malformation syndrome,Disorder,LD90.Y,0014823,Q87.0,616900,C5567480,,,
488635,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,Disease,Disorder,,0014832,E77.8,616917,C5567479,,,
488265,Osteofibrous dysplasia,Disease,Disorder,,0011806,M85.0,607278,C1709353,C563276,,10887
488239,Acute macular neuroretinopathy,Disease,Disorder,9B65.0,0044627,H35.3,,C5200735,,10086444,
488232,Split-foot malformation-mesoaxial polydactyly syndrome,Malformation syndrome,Disorder,,0014816,Q74.8,616890,C5567487,,,
488333,Autosomal dominant Charcot-Marie-Tooth disease type 2W,Disease,Disorder,,0014711,G60.0,616625,C5567486,,,
488280,14q32 duplication syndrome,Disease,Disorder,,0014707,Q92.3,616604,C4225449,,,
488586,Congenital amyoplasia,Malformation syndrome,Disorder,LD26.41,0044629,Q68.8,,C0812412,,,
488437,SIX2-related frontonasal dysplasia,Malformation syndrome,Disorder,,0044628,Q75.8,,C5567484,,,
488434,"Camptodactyly syndrome, Guadalajara type 3",Malformation syndrome,Disorder,,0012759,Q87.8,611929,C2677809,C567455,,10573
488613,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,Malformation syndrome,Disorder,,0024252,F84.8,616973,C5567482,,,
488594,Autosomal recessive spastic paraplegia type 76,Disease,Disorder,,0014827,G11.4,616907,C5567483,,,
488197,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,Disease,Disorder,LA10.Y,0014747,Q13.8,616722,C5567488,,,
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,,,
488191,Female infertility due to oocyte meiotic arrest,Disease,Disorder,GA31.0Y,0044626,N97.8,619009,C5567489,,,
487796,Takenouchi-Kosaki syndrome,Malformation syndrome,Disorder,LD2F.1,0014757,Q87.8,616737,C4225222,,,
487814,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,Disease,Disorder,,0044625,G60.0,,C5567515,,,
487809,Pediatric collagenous gastritis,Disease,Disorder,DA42.Y,0044624,K29.6,,C5680109,,,
487825,Pierpont syndrome,Malformation syndrome,Disorder,,0011213,Q87.8,602342,C1865644,C566559,,
486955,Rare pediatric rheumatologic disease,Category,Group of disorders,,,,,C5681264,,,
31205,Rat-bite fever,Disease,Disorder,1B90,0006941,A25.9,,C0034686,D011906,10037904,9557
31204,Nocardiosis,Disease,Disorder,1C1B.1,0017776,A43.9,,C0028242,D009617,10029444,7210
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
31150,Tangier disease,Disease,Disorder,5C81.0,0008783,E78.6,205400,C0039292,D013631,10051875,7731
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
31112,Dermatofibrosarcoma protuberans,Disease,Disorder,2B53.Y,0011934,C49.9,607907,C0392784,C538219,10057070,9569
30924,Primary hypomagnesemia with secondary hypocalcemia,Disease,Disorder,5C64.41,0011176,E83.4,602014,C1865974,C566593,,13072
30925,Hereditary arginine vasopressin deficiency,Clinical subtype,Subtype of disorder,5A61.5,0007450,E23.2,304900,C5680110,,,
476084,BVES-related limb-girdle muscular dystrophy,Disease,Disorder,8C70.41,0014782,G71.0,616812,C5568138,,,
476096,Erythrokeratodermia-cardiomyopathy syndrome,Disease,Disorder,BC43.0,0018774,I42.0,615821,C5568136,,,
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,,,
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
71279,CANOMAD syndrome,Disease,Disorder,8C01.3,0019109,G61.8,,C2931684,C537980,10088816,9778
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,,
71272,Sandifer syndrome,Disease,Disorder,8A02.2,0019104,G24.8,,C0338465,C537234,10066142,9684
71273,Renal nutcracker syndrome,Disease,Disorder,LA90.Y,0019105,Q27.8,,C3178770,D059228,,11971
71274,Disseminated peritoneal leiomyomatosis,Disease,Disorder,,0006183,D20.1,,C0267785,,,12843
71275,Rh deficiency syndrome,Disease,Disorder,3A10.Y,0019107,D58.8,268150,C0272052,C562717,,12916
71276,Silent sinus syndrome,Disease,Disorder,CA0B,0019108,J34.8,,C3698095,,10075540,
71277,Classic glucose transporter type 1 deficiency syndrome,Disease,Disorder,5C61.5,0011724,E74.8,606777,C4551966,,,9265
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
71211,Neuromyelitis optica spectrum disorder,Disease,Disorder,8A43,0019100,G36.0,,C0027873,D009471,10077875,6267
71267,Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,Malformation syndrome,Disorder,LD2H.Y,0019102,Q87.8,,C4303592,,,
71213,Retinal capillary malformation,Disease,Disorder,LD23,0019101,D18.0,,C0730304,,,
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,,,
70591,Chronic thromboembolic pulmonary hypertension,Disease,Disorder,BB01.3,0013024,I26.0,612862,C2363973,,10068739,13124
70592,Transient predisposition to invasive pyogenic bacterial infection,Disease,Disorder,4A00.2,0011888,D84.8,607676,C1843256,C564352,,10311
70589,Bronchopulmonary dysplasia,Malformation syndrome,Disorder,KB29.0,0019091,P27.1,,C0006287,D001997,10006475,5962
70590,Infantile apnea,Disease,Disorder,7A4Y,0019092,P28.4,,C0745261,,10077321,6779
70595,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,Disease,Disorder,5C53.21,0011835,G71.3,607459,C1843851,C537583,,9998
70596,Congenital Epstein-Barr virus infection,Disease,Disorder,KA62.1,0019094,P35.8,,C4274357,,,
70593,Immunodeficiency due to selective anti-polysaccharide antibody deficiency,Disease,Disorder,4A01.02,0019093,D80.8,,C0398712,,,11903
70594,Dopa-responsive dystonia due to sepiapterin reductase deficiency,Disease,Disorder,5C59.01,0012994,G24.1,612716,C0268468,C562657,,10365
70578,Adult acute respiratory distress syndrome,Disease,Disorder,CB00,0100130,J80,,C5680115,,,
70573,Small cell lung cancer,Disease,Disorder,2C25.1,0008433,C34.9,182280,C0149925,,10041067,9344
70568,Post-transplant lymphoproliferative disease,Disease,Disorder,,0019088,D47.9,,C0432487,,10051358,9553
70588,Meconium aspiration syndrome,Disease,Disorder,KB26.0,0006851,P24.0,,C0025048,D008471,10076496,10494
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
70470,OBSOLETE: Hyperlipoproteinemia type 5,Disease,Disorder,,,,,,,,
70567,Cholangiocarcinoma,Disease,Disorder,2C12.10,0019087,C24.0,615619,C0206698,D018281,10008593,9304
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
70476,Vernal keratoconjunctivitis,Disease,Disorder,9A60.5,0019085,H16.2,,C0022577,,10081000,7854
70475,Radiation proctitis,Disease,Disorder,DB33.42,0019084,K62.7,,C0400827,,10037766,
69744,Circumscribed palmoplantar hypokeratosis,Disease,Disorder,,0019076,L98.8,,C0406762,,,
69745,Warty dyskeratoma,Disease,Disorder,2F21.Y,0019077,L85.8,,C0334063,,10068856,
69735,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,Disease,Disorder,,,Q82.0,607823,C4317151,,,2492
69736,Bilateral acute depigmentation of the iris,Disease,Disorder,9A90.1,0019074,Q13.8,,C4304058,,,
69737,Bosley-Salih-Alorainy syndrome,Malformation syndrome,Disorder,LD2H.Y,0019075,Q87.8,601536,C1832216,,,
69739,Athabaskan brainstem dysgenesis syndrome,Disease,Disorder,LD2H.Y,0011099,G96.8,601536,C1832215,C535397,,8333
69663,Low phospholipid-associated cholelithiasis,Disease,Disorder,DC11.Y,0010939,K80.8,600803,C2609268,,10068936,
69665,Intrahepatic cholestasis of pregnancy,Disease,Disorder,JA65.0,0100429,O26.6,614972,C0268318,C535932,,9804
69723,Tyrosinemia type 3,Disease,Disorder,5C50.1Y,0010162,E70.2,276710,C0268623,,10069461,10332
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
69087,Naegeli-Franceschetti-Jadassohn syndrome,Disease,Disorder,LD27.0Y,0008059,Q82.4,161000,C0343111,C538331,,3912
69125,Anonychia with flexural pigmentation,Malformation syndrome,Disorder,LD27.0Y,0007131,Q84.3,106750,C1862844,C566278,,
69088,Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,Disease,Disorder,LD27.0Y,0010295,Q78.2,300291,C4303737,,,
69083,"Ectodermal dysplasia with natal teeth, Turnpenny type",Malformation syndrome,Disorder,LD27.0Y,0011041,Q82.4,601345,C1832444,C563347,,10526
69082,Odonto-tricho-ungual-digito-palmar syndrome,Malformation syndrome,Disorder,LD27.0Y,0011171,Q82.4,601957,C1865998,C566598,,
69085,Limb-mammary syndrome,Malformation syndrome,Disorder,LD27.0Y,0011334,Q82.4,603543,C1863753,C535903,,10051
69084,Pure hair and nail ectodermal dysplasia,Malformation syndrome,Disorder,LD27.0Y,0019071,Q82.8,614927,C4024880,C566592,,
69077,Rhabdoid tumor,Disease,Disorder,,0002728,C49.9,613325,C0206743,D018335,10073334,7572
69076,Familial renal glucosuria,Disease,Disorder,5C61.5,0009297,E74.8,233100,C3245525,,10073689,7548
69078,Liposarcoma,Disease,Disorder,2B59.2,0005060,C49.9,613488,C0023827,D008080,10024627,6913
69061,Idiopathic steroid-sensitive nephrotic syndrome,Clinical syndrome,Disorder,GB41,0019067,N04.0,615861,C0403396,,,
69063,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,Disease,Disorder,GB41,0019068,P96.0,,C4511239,,,
67048,3-methylglutaconic aciduria type 4,Disease,Disorder,5C50.E0,0009611,E71.1,250951,C1855126,C565393,,10342
69028,Dysostosis with brachydactyly,Category,Group of disorders,,,,,C5681270,,,
67046,3-methylglutaconic aciduria type 1,Disease,Disorder,5C50.E0,0009610,E71.1,250950,C0342727,C562801,,10321
67047,3-methylglutaconic aciduria type 3,Disease,Disorder,5C50.E0,0009787,E71.1,258501,C0574084,C535311,,5663
67044,Thrombocytopenia with congenital dyserythropoietic anemia,Disease,Disorder,3A73,0019031,D69.4,300367,C4302508,,,
67045,X-linked intellectual disability with isolated growth hormone deficiency,Clinical subtype,Subtype of disorder,LD90.Y,0019032,E23.0,300123,C1848068,C564712,,
67042,Late-onset retinal degeneration,Disease,Disorder,9B70,0011579,H35.5,605670,C1854065,C565309,,4357
67043,Amoebic keratitis,Disease,Disorder,1F50,0005629,H19.2*,,C0000880,D015823,10069408,9285
67039,Segmental odontomaxillary dysplasia,Disease,Disorder,DA07.3,0019029,K00.4,,C3698531,,,
67041,Hyaluronidase deficiency,Disease,Disorder,5C56.3Y,0011093,E76.2,601492,C1291490,C563209,,
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
66662,Extracutaneous mastocytoma,Disease,Disorder,2A21.3,0019025,C96.2,,C0272202,,,
67036,Autosomal dominant optic atrophy and cataract,Disease,Disorder,9C40.8,0008133,H47.2,165300,C1833809,C537128,,10203
66661,Mast cell sarcoma,Disease,Disorder,2A21.2,0019024,C96.2,,C0036221,D012515,,
66646,Cutaneous mastocytosis,Clinical group,Group of disorders,2A21.1,0019023,,,C1136033,D034701,,7842
66637,Diaphanospondylodysostosis,Malformation syndrome,Disorder,LD24.5Y,0011946,Q78.8,608022,C1842691,C564305,,
66634,Dilated cardiomyopathy with ataxia,Disease,Disorder,5C50.E0,0012435,E71.1,610198,C1857776,C565706,,12964
66633,Sensorineural hearing loss-early graying-essential tremor syndrome,Disease,Disorder,LD2H.Y,0019022,H90.3,,C4510044,,,
66631,CEDNIK syndrome,Disease,Disorder,LD27.2,0012290,Q82.8,609528,C1836033,C537943,,9940
66630,Congenital pseudoarthrosis of the clavicle,Disease,Disorder,LB72.Y,0007330,Q74.0,118980,C0265565,C562548,,
66629,Goldberg-Shprintzen megacolon syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012280,Q87.8,609460,C1836123,C537279,,9849
66628,Obesity due to congenital leptin deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0013991,E66.8,614962,C3554224,,,13015
66627,Tenosynovial giant cell tumor,Disease,Disorder,,0024686,M12.2,,C1318543,D000070779,,7396
66625,Cerebrooculonasal syndrome,Malformation syndrome,Disorder,LD20.Y,0011575,Q87.0,605627,C1854108,C565313,,3480
66624,PANDAS,Disease,Disorder,8E4A.0,0019020,G96.8,,C2931429,C537163,,7312
66529,Tako-Tsubo cardiomyopathy,Disease,Disorder,BC43.5,0019018,I42.8,,C1739395,D054549,10066286,9400
66518,Short fifth metacarpals-insulin resistance syndrome,Disease,Disorder,5A44,0019017,E34.8,,C4303621,,,
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
65282,Carvajal syndrome,Disease,Disorder,BC43.6,0011581,I42.0,615821,C1854063,C535581,,5595
562639,Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,Disease,Disorder,DB96.Y,0034189,K75.4,,C5680117,,,
65285,Lhermitte-Duclos disease,Clinical subtype,Subtype of disorder,2A00.21,0019002,Q04.8,158350,C0391826,,,6901
65284,Biotin-thiamine-responsive basal ganglia disease,Disease,Disorder,5C63.Y,0011841,G93.8,607483,C1843807,C537658,,10237
65287,Beta-ureidopropionase deficiency,Disease,Disorder,5C55.1,0013164,E79.8,613161,C1291512,C563210,,
65286,3q29 microdeletion syndrome,Malformation syndrome,Disorder,LD44.30,0012269,Q93.5,609425,C2674949,C567184,,11974
65681,Vaginal atresia,Morphological anomaly,Disorder,LB42.5,0019007,Q52.0,,C1321884,,10046879,
65288,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,Malformation syndrome,Disorder,KB60.2Y,0012192,P70.2,609069,C1836780,C563796,,
65683,Isolated focal cortical dysplasia,Disease,Disorder,LA05.51,0019009,Q04.8,607341,C4707795,,,
65682,Benign recurrent intrahepatic cholestasis,Disease,Disorder,5C58.04,0019008,K83.1,605479,C0149841,,10087038,12185
65720,Arthrogryposis-severe scoliosis syndrome,Malformation syndrome,Disorder,LD26.4Y,0012195,Q68.8,609128,C1836756,C563791,,
65684,Monomelic amyotrophy,Disease,Disorder,8B60.6,0011224,G12.8,602440,C1865384,C538253,10069681,9697
65748,Multiple self-healing squamous epithelioma,Disease,Disorder,2C31.1,0007566,D48.5,132800,C0546476,,,3090
65743,Autosomal dominant multiple pterygium syndrome,Malformation syndrome,Disorder,LD26.40,0008338,Q79.8,178110,C1867440,C566739,,
65759,Carpenter syndrome,Malformation syndrome,Disorder,LD24.GY,0019012,Q87.0,201000,C1275078,C563187,10081310,6003
65753,Charcot-Marie-Tooth disease type 1,Clinical group,Group of disorders,8C20.0,0019011,,,C0751036,,,12433
64744,IgG4-related thyroid disease,Clinical subtype,Subtype of disorder,4A43.0,0018992,E06.5,,C0154162,,10039142,
64745,Pruritic urticarial papules and plaques of pregnancy,Disease,Disorder,JA65.12,0008353,O26.8,178995,C0269680,C535817,10066100,9635
64746,Autosomal dominant Charcot-Marie-Tooth disease type 2,Clinical group,Group of disorders,8C20.1,0018993,,,C5548211,,,12431
64747,X-linked Charcot-Marie-Tooth disease,Clinical group,Group of disorders,8C20.0,0018994,,,C4551551,,,12444
64748,Dejerine-Sottas syndrome,Disease,Disorder,8C20.Y,0007790,G60.0,145900,C0011195,,,9204
64749,Charcot-Marie-Tooth disease type 4,Clinical group,Group of disorders,8C20.0,0018995,,,C4082197,,,12440
64751,Hereditary motor and sensory neuropathy type 5,Disease,Disorder,8C20.Y,0010877,G60.0,600361,C4721916,,,9208
562509,Heme oxygenase-1 deficiency,Disease,Disorder,,0013536,E88.8,614034,C1841651,C564200,,
64752,Hereditary sensory and autonomic neuropathy type 5,Disease,Disorder,8C21.3,0012092,G60.8,608654,C0020075,,,12328
64753,Spinocerebellar ataxia with axonal neuropathy type 2,Disease,Disorder,9C82.4,18996,G60.2,615217,C1853761,,,12860
64754,Nevus comedonicus syndrome,Disease,Disorder,LD2D.Y,0014873,Q82.5,617025,C0265987,,,13073
562528,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,Malformation syndrome,Disorder,,0014556,Q87.8,616266,C4225398,,,
64755,Becker nevus syndrome,Disease,Disorder,LC02,0011500,D22.5,604919,C1858042,C565735,,3856
562559,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,Malformation syndrome,Disorder,,0013353,F72.8,613671,C3150924,,,
562538,Autosomal recessive extra-oral halitosis,Disease,Disorder,,0034186,E88.8,618148,C4748387,,,
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,,,
64686,Tolosa-Hunt syndrome,Disease,Disorder,8A85,0018983,H49.8,,C0040381,D020333,10051526,7777
64545,Benign idiopathic neonatal seizures,Disease,Disorder,,0018981,,,C0393693,,,
64542,"Acrofacial dysostosis, Kennedy-Teebi type",Malformation syndrome,Disorder,LD25.2,0018980,Q75.4,,C4304094,,,
64280,Childhood absence epilepsy,Disease,Disorder,8A61.21,0010826,G40.3,612269,C4281785,,,
64722,Granulomatous mastitis,Disease,Disorder,GB21.Y,0018987,N61,,C0405469,D058890,,
64720,Leiomyosarcoma,Disease,Disorder,,0005058,C49.9,,C0023269,D007890,10024189,6880
64694,Trench fever,Disease,Disorder,1C11.1,0005991,A79.0,,C0040830,D014205,10044582,
64692,Bartonella bacilliformis infection,Disease,Disorder,1C11.0,,A44.0,,C4552012,D001474,,
64739,Ovarian hyperstimulation syndrome,Disease,Disorder,GA32.0,0011972,N98.1,608115,C0085083,D016471,10033266,
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
64743,Hepatoportal sclerosis,Histopathological subtype,Subtype of disorder,,0018991,K74.1,,C4273756,,,
64742,Pleuropulmonary blastoma,Disease,Disorder,XH2FY9,0011014,C34.1,601200,C1266144,C537516,10080682,8757
64741,Pulmonary blastoma,Disease,Disorder,XH5VH1,0005933,C34.3,,C0206629,D018202,,
561854,FOXG1 syndrome,Disease,Disorder,,0035383,Q04.8,613454,C3150705,,,12825
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,,,
63259,Iniencephaly,Morphological anomaly,Disorder,LA00.1,0018968,Q00.2,,C0152234,,10022034,10506
63260,Craniorachischisis,Morphological anomaly,Disorder,LA00.00,0018969,Q00.1,,C0152426,,10011321,10504
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
63273,FLNC-related handgrip and calf weakness-distal myopathy,Disease,Disorder,8C75,0013550,G71.0,614065,C4518807,,,
63275,Pemphigoid gestationis,Disease,Disorder,JA65.10,0006558,L12.8,,C0019343,D006559,10019939,6497
63454,Pattern dystrophy,Category,Group of disorders,,,,,C1868569,C536309,,9821
63455,Paraneoplastic pemphigus,Disease,Disorder,EB40.2,0018974,L10.8,,C1112570,,10057056,
63443,Rare epithelial tumor of stomach,Category,Group of disorders,,,,,C5680118,,10017758,
63446,Acrocapitofemoral dysplasia,Malformation syndrome,Disorder,LD24.8Y,0011907,Q78.8,607778,C1843096,C564334,,10605
63999,IgG4-related mediastinitis,Clinical subtype,Subtype of disorder,CB22.0,0018978,J98.5,,C0264573,C536136,10027074,8337
63862,Schisis association,Malformation syndrome,Disorder,,0018976,Q87.8,,C2931271,C536633,,246
60040,Megalencephaly-capillary malformation-polymicrogyria syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011240,Q87.3,602501,C1865285,C536142,,6950
60039,Pudendal nerve entrapment syndrome,Disease,Disorder,GA34.0Y,0018957,G58.8,,C3178970,D060545,,10713
60041,Congenital heart block,Disease,Disorder,LA8Y,0009326,Q24.6,234700,C0149530,C535758,10019263,6164
60032,Recurrent respiratory papillomatosis,Disease,Disorder,2F00.1,0018955,J98.8,,C1168198,C535297,10059314,111
60033,Idiopathic bronchiectasis,Disease,Disorder,CA24,0018956,J47,613071,C0339985,,,
59303,Neonatal ichthyosis-sclerosing cholangitis syndrome,Disease,Disorder,DB96.2Y,0011874,Q80.8,607626,C1843355,C564365,,10583
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
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
59298,Schilder disease,Disease,Disorder,8A40.Y,0010085,G37.0,272100,C0007795,D002549,,
60015,Enlarged parietal foramina,Malformation syndrome,Disorder,LB70.Y,0018953,Q75.8,609597,C1868598,,,
564003,Osteochondrosis of the metatarsal bone,Disease,Disorder,FB82.1,0023188,M92.7,,C0264099,C535636,,2380
60025,Pulmonary alveolar microlithiasis,Disease,Disorder,CB06,0009928,J84.0,265100,C0155912,C562405,10037315,11894
563991,Osteochondrosis of the tarsal bone,Disease,Disorder,,16086,M92.6,,C0022765,,,6842
60026,Pulmonary nodular lymphoid hyperplasia,Disease,Disorder,CB40.Y,0008348,J98.4,178610,C1334969,,10077412,
564178,Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,Disease,Disorder,GB90.4Y,,E83.4,618314,C5681271,,,
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
59315,Rhombencephalosynapsis,Malformation syndrome,Disorder,LA06.Y,0018946,Q04.3,,C1866130,,10090354,
60014,Argyria,Disease,Disorder,ED6Y,0018952,T56.8,,C0003782,D001129,10003094,
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
57194,OBSOLETE: Aseptic osteitis,Disease,Disorder,,,,,,,,
563690,Furuncular myiasis due to Cordylobia rodhaini,Clinical subtype,Subtype of disorder,1G01.3,0035408,B87.0,,C5231033,,,
57146,Rare hepatic disease,Category,Group of disorders,,,,,C5681272,,,
563708,Syndromic congenital sodium diarrhea,Disease,Disorder,DA90.1,0034204,K90.8,270420,C5680120,,,
57145,SUNCT syndrome,Disease,Disorder,8A82,0018927,G44.8,,C1262087,D050798,10061981,9257
563684,Furuncular myiasis due to Dermatobia hominis,Clinical subtype,Subtype of disorder,1G01.3,0035406,B87.0,,C0277400,,,
563687,Furuncular myiasis due to Cordylobia anthropophaga,Clinical subtype,Subtype of disorder,1G01.3,0035407,B87.0,,C4511624,,,
56970,Human prion disease,Category,Group of disorders,,0018926,,,C0162534,D017096,10079301,
56965,Progressive bulbar paralysis of childhood,Disease,Disorder,,,,,,D010244,,
563671,Mucinous cystadenoma of childhood,Histopathological subtype,Subtype of disorder,,0035404,D27,,C4708594,,,
56425,Cold agglutinin disease,Disease,Disorder,3A20.1,0018922,D59.1,,C0175816,,,6130
563676,Seromucinous cystadenoma of childhood,Histopathological subtype,Subtype of disorder,,0035405,D27,,C5231009,,,
59181,Sorsby fundus dystrophy,Disease,Disorder,9B61,0007640,H35.5,136900,C1850938,C564992,,
59135,Laing distal myopathy,Disease,Disorder,,0008050,G71.0,160500,C4552004,,,10769
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
57782,Mazabraud syndrome,Malformation syndrome,Disorder,FB80.0,0018933,M85.0,,C3697137,,10081724,
55595,TNP03-related limb-girdle muscular dystrophy D2,Disease,Disorder,8C70.40,0012034,G71.0,608423,C1842062,C564242,,
55596,HNRNPDL-related limb-girdle muscular dystrophy D3,Disease,Disorder,,0012193,G71.0,609115,C1836765,C563794,,
54595,Craniopharyngioma,Disease,Disorder,2F9A,0018907,D44.4,,C0010276,D003397,10011318,10486
54368,Sarcocystosis,Disease,Disorder,1A34,0018903,A07.8,,C0036231,D012523,10039483,
54370,Primary membranoproliferative glomerulonephritis,Disease,Disorder,MF8Y,0018904,N03.5,615008,C0017662,D015432,10018370,11982
54272,Hepatocellular adenoma,Disease,Disorder,2E92.7,0018902,D13.4,,C0206669,D018248,10019827,
56304,Atelosteogenesis type II,Malformation syndrome,Disorder,LD24.03,0009727,Q77.5,256050,C1850554,C535395,,8329
563666,Serous cystadenoma of childhood,Histopathological subtype,Subtype of disorder,,0035403,D27,,C4708593,,,
56305,Atelosteogenesis type III,Malformation syndrome,Disorder,LD24.E,0007168,Q78.8,108721,C3668942,C579928,,10608
563612,Isolated exencephaly,Clinical subtype,Subtype of disorder,LA00.0Y,0035402,Q00.0,,C0266453,,,
563609,Isolated anencephaly,Clinical subtype,Subtype of disorder,LA00.0,0035401,Q00.0,,C0002902,,10002320,
56044,Carcinoma of gallbladder and extrahepatic biliary tract,Clinical group,Group of disorders,,0018918,,,C5566557,,10007426,
563589,Seronegative autoimmune hepatitis,Clinical subtype,Subtype of disorder,DB96.0,0035400,K75.4,,C5680121,,,
55880,Chondrosarcoma,Disease,Disorder,2B50,0008977,C49.9,215300,C0008479,D002813,10008734,6055
563581,Autoimmune hepatitis type 2,Clinical subtype,Subtype of disorder,DB96.0,0021176,K75.4,,C4303163,,,
55881,Adamantinoma,Disease,Disorder,2B5J,0002422,C40.2,102660,C0334556,D050398,,
563576,Autoimmune hepatitis type 1,Clinical subtype,Subtype of disorder,DB96.0,0005543,K75.4,,C4303164,,,
55654,Hypotrichosis simplex,Disease,Disorder,EC21.2,0018914,L65.8,614238,C1854310,C537160,,9170
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,,,
565858,Craniosynostosis-microretrognathia-severe intellectual disability syndrome,Malformation syndrome,Disorder,,0032642,Q87.8,618265,C5780021,,,
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,,,
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,,,
79211,OBSOLETE: Combined hyperlipidemia,Category,Group of disorders,,,,,,,,
565909,Calpain-3-related limb-girdle muscular dystrophy D4,Disease,Disorder,,0035433,G71.0,618129,C4748295,,,
79233,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,Disease,Disorder,5C55.0Y,0010299,E79.8,300323,C0268117,C562583,,
79230,HJV or HAMP-related hemochromatosis,Disease,Disorder,5C64.10,0019257,E83.1,602390,C0268060,C537247,,10092
79237,Galactokinase deficiency,Disease,Disorder,5C51.41,0009255,E74.2,230200,C0268155,,,2422
566067,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,Disease,Disorder,4A00.Y,0035437,D89.8,260570,C5568564,,,
79234,Crigler-Najjar syndrome type 1,Clinical subtype,Subtype of disorder,5C58.00,0021020,E80.5,218800,C0010324,,10057034,47
79235,Crigler-Najjar syndrome type 2,Clinical subtype,Subtype of disorder,5C58.00,0011725,E80.5,606785,C2931132,C536213,10011387,8683
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
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,,,
565612,Primary triglyceride deposit cardiomyovasculopathy,Etiological subtype,Subtype of disorder,,0035423,E75.5,,C5680124,,,
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,,,
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,,,
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
79156,Seizures-intellectual disability due to hydroxylysinuria syndrome,Disease,Disorder,5C50.4,0009373,E72.3,236900,C4510221,,,
79155,Hydroxykynureninuria,Disease,Disorder,5C50.3,,E70.8,236800,C0268474,C536081,,10039
79154,2-aminoadipic 2-oxoadipic aciduria,Disease,Disorder,,0008774,E72.3,204750,C1859817,,,
79153,Idiopathic trachyonychia,Disease,Disorder,EC22.0,0008060,L60.3,,C5681288,,,10363
79152,Disseminated superficial actinic porokeratosis,Disease,Disorder,ED52,0019212,Q82.8,616631,C0265970,,10085766,10983
79151,Acrokeratosis verruciformis of Hopf,Disease,Disorder,EC20.Y,0007048,Q82.8,101900,C0265971,,10069445,
79150,Linear and whorled nevoid hypermelanosis,Disease,Disorder,EC23.0,0013688,L81.4,614323,C1304501,,,11004
79149,Dermochondrocorneal dystrophy,Disease,Disorder,EC4Y,0009094,L98.8,221800,C0432288,C535375,,1815
79148,Elastosis perforans serpiginosa,Disease,Disorder,EE70.Y,0007529,L87.2,130100,C0221271,C536202,10014338,10103
79147,Familial reactive perforating collagenosis,Disease,Disorder,EE70.Y,0009000,L87.1,216700,C1857624,C565687,,13331
79146,Familial progressive hyperpigmentation,Disease,Disorder,EC23.0,0013648,L81.4,614233,C1840392,C564163,,
79145,Dowling-Degos disease,Disease,Disorder,EC23.0,0008371,L81.8,615696,C3714534,C562924,10068651,9775
79144,Isolated congenital onychodysplasia,Disease,Disorder,EC22.0,0011595,Q84.6,605779,C1274658,,,9761
79143,Isolated congenital anonychia,Disease,Disorder,EC22.0,0019211,Q84.3,614149,C0265998,C536377,,
79142,NON RARE IN EUROPE: Familial Dupuytren contracture,Disease,Disorder,,,,,,,,
79172,Creatine deficiency syndrome,Clinical group,Group of disorders,,0000456,,,C5244016,,10084104,
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,
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
79107,Developmental malformations-deafness-dystonia syndrome,Malformation syndrome,Disorder,LD2H.Y,0011823,Q87.8,607371,C4303590,,,9818
566231,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,Disease,Disorder,5A00.00,0034216,E07.8,190120,C5680127,,,
79106,Eiken syndrome,Malformation syndrome,Disorder,FB83.0Y,0010803,M85.8,600002,C1838779,C564010,,
566243,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,Disease,Disorder,5A00.00,0034217,E07.8,274300,C1840364,,,
79118,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,Disease,Disorder,GB8Y,0012436,P70.2,610199,C4510367,,,
566393,Acute mast cell leukemia,Clinical subtype,Subtype of disorder,2A21.00,0035444,C94.3,,C5680128,,,
79113,Mandibulofacial dysostosis-microcephaly syndrome,Malformation syndrome,Disorder,,0012516,Q87.0,610536,C1864652,C537405,,10056
79102,Thyrotoxic periodic paralysis,Disease,Disorder,5A02.Y,0019201,G72.3,614834,C0268446,,10043788,10814
79105,Myxofibrosarcoma,Disease,Disorder,2B53.0,0019202,C49.9,,C3714524,,10066948,
79099,Interstitial granulomatous dermatitis with arthritis,Disease,Disorder,LD27.0Y,0019199,L30.8,,C4751206,,,
79098,Sympathetic ophthalmia,Disease,Disorder,9B65.0,0019198,H44.1,,C0029077,D009879,10042742,
79101,Hyperprolinemia type 2,Disease,Disorder,5C50.8,0009401,E72.5,239510,C2931835,C538385,10058514,6710
566192,Congenital autosomal recessive small-platelet thrombocytopenia,Disease,Disorder,3B64.01,0035441,D69.1,273900,C5680129,,,
79100,Atrophoderma vermiculata,Disease,Disorder,ED56,0008849,L66.4,604093,C0263429,,,9744
79095,Congenital bile acid synthesis defect type 4,Disease,Disorder,5C52.11,0008967,K76.8,614307,C3280428,C535444,,10046
79094,Grange syndrome,Malformation syndrome,Disorder,LD28.Y,0011243,Q87.8,602531,C1865267,C566529,,
566175,Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,Disease,Disorder,DA96.Y,,D84.1,226300,C4538570,,10085728,
79097,Folinic acid-responsive seizures,Disease,Disorder,5C59.Y,0019197,G40.3,,C4273952,,,
79096,Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy,Disease,Disorder,5C63.Y,0012407,G40.8,610090,C1864723,C566449,,10730
79138,Bickerstaff brainstem encephalitis,Disease,Disorder,8C01.0,0019208,G61.0,,C1960543,,10076985,
79139,Japanese encephalitis,Disease,Disorder,1C85,0019209,A83.0,,C0014057,D004672,10014596,6797
79140,Cutaneous neuroendocrine carcinoma,Disease,Disorder,2C34,0019210,C44.3,,C0007129,,,9266
79141,Hereditary painful callosities,Disease,Disorder,EC20.31,0007248,Q82.8,114140,C1861964,C566180,,
79134,DEND syndrome,Disease,Disorder,KB60.2Y,0019207,P70.2,606176,C4303593,,,
79135,Episodic ataxia type 3,Disease,Disorder,8A03.14,0011682,G11.8,606554,C1847839,C564697,,
79136,Episodic ataxia type 4,Disease,Disorder,8A03.14,0011681,G11.8,606552,C1847843,C564698,,
79137,Generalized epilepsy-paroxysmal dyskinesia syndrome,Disease,Disorder,8A61.2Y,0012276,G40.3,609446,C1836173,C563719,,
79129,Trichodysplasia-amelogenesis imperfecta syndrome,Malformation syndrome,Disorder,LD27.0Y,0019205,Q82.4,,C4304344,,,
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,,,
79124,Hepatic veno-occlusive disease-immunodeficiency syndrome,Disease,Disorder,4A01.33,0009338,K76.5,235550,C4510630,,,10083
566396,Chronic mast cell leukemia,Clinical subtype,Subtype of disorder,2A21.00,0035445,C94.3,,C5680130,,,
79126,Acute interstitial pneumonia,Disease,Disorder,CB03.0,0019203,J84.1,178500,C0085786,,10066728,12835
79127,Respiratory bronchiolitis-interstitial lung disease syndrome,Disease,Disorder,CB03.6,0019204,J68.4,,C1735355,,10066393,
79128,Lymphoid interstitial pneumonia,Disease,Disorder,CB03.5,0009537,J84.1,247610,C0264511,C562489,10062997,
77293,Chronic visceral acid sphingomyelinase deficiency,Disease,Disorder,5C56.0Y,0011871,E75.2,607616,C0268243,D052537,,10729
77295,Odontoleukodystrophy,Clinical subtype,Subtype of disorder,8A44,0019177,E75.2,607694,C3502054,C564344,,9632
77261,Gaucher disease type 3,Clinical subtype,Subtype of disorder,5C56.0Y,0009267,E75.2,231000,C0268251,,10075699,2443
77292,Infantile neurovisceral acid sphingomyelinase deficiency,Disease,Disorder,5C56.0Y,0009756,E75.2,257200,C0268242,D052536,,7206
77298,Anophthalmia/microphthalmia-esophageal atresia syndrome,Malformation syndrome,Disorder,LD21.0,0008799,Q87.8,206900,C1859773,C565948,,1443
77299,Microphthalmia-brain atrophy syndrome,Malformation syndrome,Disorder,LD21.0,0012638,Q11.2,611222,C1970013,C566985,,9292
77296,Morgagni-Stewart-Morel syndrome,Malformation syndrome,Disorder,FB80.3,0007766,M85.2,144800,C0020494,D006957,10081545,8593
77297,Majeed syndrome,Disease,Disorder,4A00.Y,0012316,D84.8,609628,C1864997,C537839,10072223,10088
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,,
77300,Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,Malformation syndrome,Disorder,,0019178,Q87.0,,C4518478,,,
77301,Monosomy 9q22.3 syndrome,Malformation syndrome,Disorder,LD44.90,0019179,Q93.5,,C3711390,C579873,,
567550,Idiopathic multidrug-resistant nephrotic syndrome,Clinical subtype,Subtype of disorder,,0035459,N04.8,,C5681293,,,
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,,
567546,Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,Clinical syndrome,Disorder,GB41,0035764,N04.8,,C5680131,,,
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,,,
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,,,
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,,,
79083,PPARG-related familial partial lipodystrophy,Disease,Disorder,5A44,0011448,E88.1,604367,C1720861,,,12600
79078,IgG4-related dacryoadenitis and sialadenitis,Clinical subtype,Subtype of disorder,4A43.0,0019191,K11.8,,C0026103,D008882,10051457,7043
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,,,
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
79086,Acquired generalized lipodystrophy,Disease,Disorder,5A44,0019193,E88.1,,C0271693,,10087376,12603
79085,AKT2-related familial partial lipodystrophy,Disease,Disorder,5A44,0019192,E88.1,,C5680134,,,
79084,"Familial partial lipodystrophy, Köbberling type",Disease,Disorder,5A44,0012072,E88.1,608600,C1720859,,,12598
567983,Parenteral nutrition-associated cholestasis,Particular clinical situation in a disease or syndrome,Disorder,DB99.60,0035777,K76.8,,C3274301,,10074151,
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
79088,Localized lipodystrophy,Clinical group,Group of disorders,,0019194,,,C4329999,,10088837,5867
75327,North Carolina macular dystrophy,Disease,Disorder,9B75.Y,0007630,H35.5,608850,C0730294,C537835,,9179
75373,Progressive bifocal chorioretinal atrophy,Disease,Disorder,9B70,0010932,H35.5,600790,C1833321,C535356,,10123
75374,Bradyopsia,Disease,Disorder,9D7Y,0012033,H53.8,608415,C1842073,C564243,,12299
75376,Familial drusen,Disease,Disorder,9B70,0007471,H35.5,126700,C1832174,C535602,,1912
75377,Central areolar choroidal dystrophy,Disease,Disorder,9B61,0008982,H31.2,613144,C1536451,C535358,,10049
75378,Oligocone trichromacy,Disease,Disorder,9B70,0019151,H35.8,,C4302876,,,
75381,Cystoid macular dystrophy,Disease,Disorder,9B70,0007935,H35.5,153880,C0024440,,10058202,
75382,Oguchi disease,Malformation syndrome,Disorder,9B70,0019152,H53.6,613411,C1306122,C537743,,10118
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,,,
566841,Liver adenomatosis,Disease,Disorder,,0035447,D13.4,,C5680136,,,
75391,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,Disease,Disorder,,0012383,D84.8,609981,C4518328,,,
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
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,,
75497,X-linked Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0010586,Q79.6,314400,C0268341,C536197,,
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
566943,Mueller-Weiss syndrome,Disease,Disorder,,0035452,M87.8,,C4761149,,10082326,
75565,Tropical endomyocardial fibrosis,Disease,Disorder,BC43.20,0019158,I42.3,,C2882252,,,
75564,Acquired idiopathic sideroblastic anemia,Disease,Disorder,2A33,19157,D64.3,,C4016601,,,8249
75567,Primary progressive freezing gait,Clinical syndrome,Disorder,8A0Y,0019160,G31.8,,C4275078,,,
75566,Loeffler endocarditis,Disease,Disorder,BC43.20,0019159,I42.3,,C0206143,,10052841,
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,,,
75840,Ullrich congenital muscular dystrophy,Disease,Disorder,8C70.6,0000355,G71.2,254090,C4551860,,,4769
77240,Primary lymphedema,Category,Group of disorders,BD93.0,0019175,,,C0238261,,,
75858,MORM syndrome,Disease,Disorder,9B70,0012423,Q87.8,610156,C1857802,C536984,,10121
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,,,
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
77259,Gaucher disease type 1,Clinical subtype,Subtype of disorder,5C56.0Y,0009265,E75.2,230800,C1961835,,10075697,2441
73271,Bleeding diathesis due to a collagen receptor defect,Disease,Disorder,3B62.Y,0019138,D69.8,614201,C5190736,,,
73263,Zygomycosis,Disease,Disorder,1F2C,0019136,B46.9,,C0043541,D020096,10061418,10224
73267,Non-24-hour sleep-wake syndrome,Disease,Disorder,7A6Z,0019137,G47.2,,C5545668,,,10949
73256,Central neurocytoma,Disease,Disorder,2A00.3,0019134,D33.0,,C0206719,,,10641
73260,Paracoccidioidomycosis,Disease,Disorder,1F2E.1,0005894,B41.7,,C0030409,D010229,10061906,7323
73246,Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,Malformation syndrome,Disorder,,0019133,Q87.8,,C4304402,,,
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,,,
73423,Acute ackee fruit intoxication,Disease,Disorder,NE61,0019140,T62.2,,C0274888,,,9299
569816,CELSR1-related late-onset primary lymphedema,Disease,Disorder,,0035499,Q82.0,619319,C5681848,,,
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
73273,Growth delay due to insulin-like growth factor I resistance,Disease,Disorder,5A61.0,0010038,E34.3,270450,C1849157,C564816,,10609
75326,Familial isolated retinal arteriolar tortuosity,Disease,Disorder,,0008373,H35.0,180000,C5779553,,,
75325,Osteosclerosis-ichthyosis-premature ovarian failure syndrome,Disease,Disorder,LD2F.1Y,0012387,M85.8,609993,C4302815,C536064,,9904
75249,Familial isolated restrictive cardiomyopathy,Disease,Disorder,BC43.2Y,0019150,I42.5,619433,C5680139,,,
75234,Cholesteryl ester storage disease,Clinical subtype,Subtype of disorder,5C56.0Y,0019149,E75.5,278000,C0008384,D015217,,12099
75233,Wolman disease,Clinical subtype,Subtype of disorder,5C56.0Y,0019148,E75.5,278000,C0043208,D015223,10053687,7899
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,,,
71290,Familial platelet disorder with associated myeloid malignancy,Disease,Disorder,3B62.3,0011071,D69.1,601399,C1832388,C563324,,10352
568062,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,Disease,Disorder,,0035474,Q82.0,616843,C4225184,,,
71291,Hereditary vascular retinopathy,Disease,Disorder,,,,,,,,
71493,Familial thrombocytosis,Disease,Disorder,3B63.0,0019111,D68.8,614521,C4303761,,,
71505,Cancer-associated retinopathy,Disease,Disorder,9B71.4,0019112,H35.8,,C0730307,D059545,10065311,
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,,,
568051,GJC2-related late-onset primary lymphedema,Disease,Disorder,,0035472,Q82.0,613480,C5681305,,,
71289,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,Malformation syndrome,Disorder,3B64.01,0011555,Q87.2,616738,C4303670,,,
71526,Obesity due to pro-opiomelanocortin deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0012335,E66.8,609734,C1857854,C565726,10083937,10823
71528,Obesity due to prohormone convertase I deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0010961,E66.8,600955,C4302878,,,
71529,Obesity due to melanocortin 4 receptor deficiency,Etiological subtype,Subtype of disorder,5B81.Y,0019115,E66.8,618406,C4273958,,,
569164,Angiomatoid fibrous histiocytoma,Disease,Disorder,,0012809,D21.9,612160,C1266127,C563181,,
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
71518,Benign paroxysmal torticollis of infancy,Disease,Disorder,8A02.2,0019113,G24.3,,C3494934,,,
71519,Psychogenic movement disorders,Clinical syndrome,Disorder,8A0Y,0019114,F44.4,,C0752208,,10072376,
569274,Multiple mitochondrial dysfunctions syndrome type 5,Disease,Disorder,5C53.21,0033282,E88.8,617613,C4539919,,,
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,,,
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,,,
73229,HANAC syndrome,Disease,Disorder,GB4Y,0012726,I99,611773,C2673195,C567088,,10889
73224,Kidney tubulopathy-dilated cardiomyopathy syndrome,Disease,Disorder,GB5Y,0019130,N25.8,620152,C4304399,,,
73245,Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,Malformation syndrome,Disorder,,0019132,G12.8,,C4509964,,,
73230,Ossification anomalies-psychomotor developmental delay syndrome,Disease,Disorder,FB83.0Y,0019131,Q79.8,,C4302826,,,
73217,Müllerian aplasia,Clinical group,Group of disorders,,0019128,,,C0431637,C537371,,7100
73014,Intractable diarrhea of infancy,Category,Group of disorders,,,,,C5848079,,,
73223,Global developmental delay-osteopenia-ectodermal defect syndrome,Malformation syndrome,Disorder,,0019129,Q87.8,,C4303570,,,
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,,,
40923,Eales disease,Disease,Disorder,9B77,0018460,H35.0,,C0271073,C538011,10057429,6309
39812,Graft versus host disease,Disease,Disorder,4B24,0013730,T86.0,614395,C0018133,D006086,10018651,
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
39041,Omenn syndrome,Disease,Disorder,4A01.10,0011338,D81.8,603554,C2700553,,10069097,8198
530838,KRT1-related diffuse nonepidermolytic keratoderma,Disease,Disorder,,0010962,Q82.8,600962,C5680142,,,5186
39044,Uveal melanoma,Disease,Disorder,2D0Y,0006486,C69.3,606661,C0220633,C536494,10081431,8621
530792,RELA fusion-positive ependymoma,Disease,Disorder,,0033980,D43.0,,C4289581,,,
38874,Dihydropyrimidinuria,Disease,Disorder,5C55.1,0009111,E79.8,222748,C3495551,,,12347
37748,Schnitzler syndrome,Malformation syndrome,Disorder,EB03,0018304,L50.8,,C0524988,D019873,10062908,12390
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,,,
37629,Neonatal neutropenia,Disease,Disorder,,,,,C0543693,,10029358,
37612,Episodic ataxia type 1,Disease,Disorder,8A03.14,0008047,G11.8,160120,C1719788,C563278,,
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,,,
37553,Andersen-Tawil syndrome,Disease,Disorder,BC65.0,0008222,G72.3,170390,C1563715,D050030,10083859,9453
37202,Interstitial cystitis,Disease,Disorder,GC00.3,0018301,N30.1,,C0282488,D018856,10011796,
37042,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,Disease,Disorder,4A01.21,0010580,E31.0,304790,C0342288,C580192,10080631,1850
36913,Autoimmune hypoparathyroidism,Disease,Disorder,5A50.03,0018242,E20.8,,C0271865,,10090022,
36899,Myoclonus-dystonia syndrome,Disease,Disorder,8A02.11,0000903,G24.1,159900,C1834570,C536096,10084572,7139
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,,,
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,,,
530995,Mixed phenotype acute leukemia,Disease,Disorder,2A61,0020743,C95.0,601626,C2826025,,,
41842,NON RARE IN EUROPE: Fibromyalgia,Disease,Disorder,,,M79.7,,,,,
41751,Bietti crystalline dystrophy,Disease,Disorder,9B61,0008865,H35.5,210370,C1859486,C535440,,10050
42062,Iminoglycinuria,Disease,Disorder,5C60.Y,0009448,E72.0,242600,C0268654,C536285,,8424
35705,Neurometabolic disorder due to serine deficiency,Category,Group of disorders,,0018162,,,C5680148,,,
35706,Glutaric acidemia type 3,Disease,Disorder,5C50.E0,0009283,E72.3,231690,C0342873,C562818,,12469
35704,L-Arginine:glycine amidinotransferase deficiency,Disease,Disorder,5C53.4,0012996,E72.8,612718,C2675179,C567192,,10323
35710,Glucose-galactose malabsorption,Disease,Disorder,5C61.0,0011731,E74.3,606824,C0268186,C562602,10066388,6521
35737,Morning glory disc anomaly,Morphological anomaly,Disorder,LA13.7Y,0018169,Q14.2,120430,C3554721,,10027974,13354
35708,Aromatic L-amino acid decarboxylase deficiency,Disease,Disorder,5C59.00,0012084,G24.8,608643,C1291564,C537437,10084110,770
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
35701,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,Disease,Disorder,5C52.02,0011614,E71.3,605911,C4510940,,,2712
35698,Mitochondrial DNA depletion syndrome,Category,Group of disorders,5C53.20,0018158,,,C0342782,,10059396,13643
35612,Nanophthalmos,Malformation syndrome,Disorder,LA10.0,0005514,Q11.2,615972,C4274282,,,
35173,X-linked dominant chondrodysplasia punctata,Disease,Disorder,LD24.04,0020603,Q77.3,302960,C0282102,,,6189
35687,Erdheim-Chester disease,Disease,Disorder,2B31.Y,0018153,D76.3,,C0878675,D031249,10060801,6369
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,,,
35656,Coenzyme Q10 deficiency,Clinical group,Group of disorders,5C53.22,0018151,,,C1843920,C564403,,10423
35120,Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,Disease,Disorder,3A10.Y,0009946,D55.3,266120,C1849507,C564859,,
35107,Desmosterolosis,Disease,Disorder,5C52.10,0011217,Q87.8,602398,C1865596,C566555,,10283
35099,Non-syndromic bicoronal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0018114,Q75.0,616602,C0221356,,,
35098,OBSOLETE: Isolated plagiocephaly,Morphological anomaly,Disorder,,,,,,,,
35125,Epidermal nevus syndrome,Disease,Disorder,LC02,0018115,Q85.8,,C5848385,,10014985,
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
35121,Lysosomal acid phosphatase deficiency,Disease,Disorder,5C64.3,0008705,E83.3,200950,C0268410,,,
36387,Genetic epilepsy with febrile seizure plus,Disease,Disorder,8A61.2Y,0018214,G40.3,620755,C3502809,C565808,,
36388,Paraneoplastic neurologic syndrome,Category,Group of disorders,,0018215,,,C0751911,D020361,10072106,
36397,Adiposis dolorosa,Disease,Disorder,EF02.1,0007070,E88.2,103200,C0001529,D000274,10001294,5750
36412,Hypocomplementemic urticarial vasculitis,Disease,Disorder,4A44.91,0018227,M31.8,,C0343206,,,6725
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
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
36367,Distal deletion 1q syndrome,Malformation syndrome,Disorder,LD44.10,0018205,Q93.5,612337,C4273897,,,
36382,OBSOLETE: Familial cervical artery dissection,Disease,Disorder,,,,,,,,
36383,COL4A1/2-related familial vascular leukoencephalopathy,Disease,Disorder,,0008289,I67.8,175780,C4755307,,,
36386,Hereditary sensory and autonomic neuropathy type 1,Disease,Disorder,8C21.0,0018213,G60.8,615632,C0020071,,,6635
36234,Bacterial toxic-shock syndrome,Disease,Disorder,1C45,0001881,A48.3,,C0600327,,10044248,9560
36205,OBSOLETE: Collagenous colitis,Clinical subtype,Subtype of disorder,,,,,,,,
36236,Staphylococcal scalded skin syndrome,Disease,Disorder,EA50.2,0018181,L00,,C0038165,D013206,10041929,
36235,Staphylococcal scarlet fever,Disease,Disorder,EA50.3,0018180,A38,,C5848379,,10039587,
36238,Staphylococcal necrotizing pneumonia,Disease,Disorder,CA40.06,0018183,J15.2,,C4706659,,,
36237,Bullous impetigo,Disease,Disorder,1B72.0,0018182,L01.0,,C1542647,,10006563,
36273,Gastric linitis plastica,Disease,Disorder,2B72.0,0018184,C16.9,,C4303226,,,
36258,Buerger disease,Disease,Disorder,4A44.8,0008889,I73.1,211480,C0040021,D013919,10043540,5969
35808,Malignant sex cord stromal tumor of ovary,Category,Group of disorders,,0018172,,,C1334609,,,
35807,Malignant germ cell tumor of ovary,Category,Group of disorders,2C73.Y,0018171,,603737,C0346180,C562841,10061893,9330
35878,Hyperinsulinism-hyperammonemia syndrome,Disease,Disorder,5C50.AY,0011717,E72.8,606762,C1847555,C538375,,9931
35858,Imerslund-Gräsbeck syndrome,Disease,Disorder,3A01.Y,0009853,D51.1,618882,C4551825,C538556,,7006
35909,Combined deficiency of factor V and factor VIII,Disease,Disorder,3B14.Z,0018175,D68.8,613625,C1856883,C565577,,
35889,Acute opioid intoxication,Disease,Disorder,6C43.3,0018173,T40.2,,C5848046,,,
36204,Intestinal lymphangiectasia,Clinical group,Group of disorders,BD92.0,0018178,,,C0024215,D008201,10025213,12331
35981,Polymicrogyria,Clinical group,Group of disorders,LA05.50,0000087,,,C0266464,D065706,10073489,
33572,5-oxoprolinase deficiency,Disease,Disorder,5C50.5,0009825,E72.8,260005,C0268525,C535322,,5681
33543,Kleine-Levin syndrome,Disease,Disorder,7A22,0007863,G47.8,148840,C0206085,D017593,10053712,3117
33475,Meningococcal meningitis,Disease,Disorder,1C1C.0,0018059,A39.0+,,C0025294,D008585,10027249,
33445,Neuroectodermal melanolysosomal disease,Malformation syndrome,Disorder,LD27.Y,0009742,L81.4,256710,C1860157,C536203,,
33409,NON RARE IN EUROPE: Lichen sclerosus,Disease,Disorder,,,L90.0,,,,,
33408,Bullous lichen planus,Disease,Disorder,EA91.Y,0018056,L43.1,,C0023648,,10056960,
535458,Familial GPIHBP1 deficiency,Etiological subtype,Subtype of disorder,,0014412,E78.3,615947,,,,
33402,Pediatric hepatocellular carcinoma,Disease,Disorder,,0018055,C22.0,114550,C0279606,,,9331
34412,NON RARE IN EUROPE: HAIR-AN syndrome,Disease,Disorder,,,,,,,,
34217,Naxos disease,Disease,Disorder,BC43.6,0011017,Q87.8,601214,C1832600,C538346,,9795
34149,Autosomal dominant tubulointerstitial kidney disease,Disease,Disorder,GB82,0008264,Q61.5,174000,C4511620,,,10801
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
33574,Glutamate-cysteine ligase deficiency,Disease,Disorder,3A10.0Y,0009259,D55.1,230450,C0268523,,,
33573,Gamma-glutamyl transpeptidase deficiency,Disease,Disorder,5C50.5,0009285,E72.8,231950,C0268524,C536836,,10099
33110,Autosomal non-syndromic agammaglobulinemia,Clinical subtype,Subtype of disorder,4A01.00,0011096,D80.0,613502,C1832241,C538056,,9640
33111,Granulomatous slack skin,Disease,Disorder,XH0EH1,0018031,C84.0,,C0376407,,,10986
33108,Lethal multiple pterygium syndrome,Malformation syndrome,Disorder,LD26.40,0009668,Q79.8,253290,C1854678,,,3834
33067,"Metaphyseal chondrodysplasia, Jansen type",Disease,Disorder,LD24.7,0007982,Q78.5,156400,C0265295,C537564,,79
33069,Dravet syndrome,Disease,Disorder,8A61.11,0011794,G40.4,615744,C0751122,,10073677,10430
33001,Lymphedema-distichiasis syndrome,Malformation syndrome,Disorder,BD93.0,0007922,Q82.0,153400,C0265345,C537710,,333
33355,Reticular dysgenesis,Disease,Disorder,4A01.10,0009973,D81.0,267500,C0272167,C538361,,8625
535453,Familial lipase maturation factor 1 deficiency,Etiological subtype,Subtype of disorder,,0009527,E78.3,246650,C1855498,,,10244
33364,Trichothiodystrophy,Disease,Disorder,EC21.1,0018053,L67.8,618891,C1955934,D054463,10044628,12109
33276,Kaposi sarcoma,Disease,Disorder,2B57.1,0005055,C46.9,148000,C0036220,D012514,10023284,6814
33314,Jessner lymphocytic infiltration of the skin,Disease,Disorder,EE90,0018051,L98.6,,C0580181,,10063628,6940
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
33226,Waldenström macroglobulinemia,Disease,Disorder,2A85.4,0100280,C88.0,610430,C0024419,D008258,10047801,7872
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
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,,,
35078,T-B+ severe combined immunodeficiency due to JAK3 deficiency,Disease,Disorder,4A01.10,0010938,D81.2,600802,C1833275,,,
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,,,
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,,
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
34515,FKRP-related limb-girdle muscular dystrophy R9,Disease,Disorder,8C70.41,0011787,G71.0,607155,C1846672,C564612,,12533
34516,DNAJB6-related limb-girdle muscular dystrophy D1,Disease,Disorder,,0021018,G71.0,603511,C3501858,C566370,,
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
34592,Immunodeficiency by defective expression of MHC class I,Disease,Disorder,4A01.11,0011476,D81.6,241600,C1858266,C565759,,8427
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
34533,Corneal dystrophy,Category,Group of disorders,9A70,0018102,H18.5,,C0010036,D003317,10011005,
536391,RASopathy,Category,Group of disorders,,0021060,,,C5555857,,,
536516,Myopathic Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0034022,Q79.6,616471,C5680153,,,
536471,Spondylodysplastic Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0034021,Q79.6,612350,C5680154,,,
536467,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,Clinical subtype,Subtype of disorder,LD28.1Y,0014139,Q79.6,615349,C3809210,,,
536545,Kyphoscoliotic Ehlers-Danlos syndrome,Disease,Disorder,LD28.1Y,0034024,Q79.6,,C4551497,C536198,,2083
536532,Classical-like Ehlers-Danlos syndrome type 2,Disease,Disorder,,0054813,Q79.6,618000,C4693870,,,
537072,PLG-related hereditary angioedema with normal C1Inh,Clinical subtype,Subtype of disorder,4A00.14,0035220,T78.3,619360,C5680155,,,
32960,Tumor necrosis factor receptor 1 associated periodic syndrome,Disease,Disorder,4A60.2,0007727,E85.0,142680,C1275126,,10067774,8457
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
52688,Myelodysplastic syndrome,Clinical group,Group of disorders,,0018881,,614286,C3463824,D009190,10028532,7132
52429,Branchiootic syndrome,Malformation syndrome,Disorder,LD2F.1Y,0018878,Q87.0,608389,C4273131,C537104,,10148
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,,
52503,X-linked creatine transporter deficiency,Disease,Disorder,5C53.4,0010305,E72.8,300352,C1845862,C535598,,1608
538101,Congenital axonal neuropathy with encephalopathy,Disease,Disorder,,0034041,G60.0,,C5681314,,,
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
52416,Mantle cell lymphoma,Disease,Disorder,2A85.5,0018876,C83.1,,C4721414,D020522,10061275,6969
52427,Retinitis punctata albescens,Disease,Disorder,9B70,0018877,H35.5,136880,C1405854,,,
52417,MALT lymphoma,Disease,Disorder,,0007650,C88.4,137245,C1850900,,10060707,6485
52056,Ulnar/fibula ray defect-brachydactyly syndrome,Malformation syndrome,Disorder,,0012063,Q73.8,608571,C4304397,,,
52055,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,Malformation syndrome,Disorder,,0010333,Q87.8,300472,C4302679,,,12486
52368,Mohr-Tranebjaerg syndrome,Disease,Disorder,8A02.12,0010578,E88.8,304700,C0796074,C535808,,8331
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
53296,Familial cutaneous collagenoma,Disease,Disorder,LC2Y,0007271,L94.8,115250,C0406817,C562925,,9799
53347,Brody myopathy,Disease,Disorder,8C7Y,0010977,G71.8,601003,C1832918,C536607,,9158
52994,Orbital leiomyoma,Disease,Disorder,2F36.Y,0018885,D31.6,,C4305000,,,
53035,Caroli disease,Malformation syndrome,Disorder,LB20.00,0010913,Q44.6,600643,C0162510,D016767,10013003,6002
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
53690,Congenital lactase deficiency,Disease,Disorder,5C61.61,0009115,E73.0,223000,C0268179,C562600,10086148,
53689,Congenital chloride diarrhea,Disease,Disorder,DA90.1,0008964,P78.3,214700,C0267662,C536210,,10001
538863,Classic pyoderma gangrenosum,Clinical subtype,Subtype of disorder,EB21,0035235,L88,,C5680157,,,
538756,Familial multiple discoid fibromas,Disease,Disorder,,0008594,D23.9,190340,C1860850,C536847,,8479
538574,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,Disease,Disorder,,0007853,G60.0,148360,C1835671,,,
53583,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,Disease,Disorder,8A02.2,0010983,G24.8,601042,C1832855,C563401,,
53540,Goldmann-Favre syndrome,Disease,Disorder,9B70,0100289,H35.5,268100,C0339541,C564835,,10781
53372,Hereditary geniospasm,Disease,Disorder,,0008588,G25.3,190100,C2931589,C537682,,9501
53351,X-linked dystonia-parkinsonism,Disease,Disorder,8A00.20,0010747,G24.1,314250,C1839130,C564048,,10533
54260,Left ventricular noncompaction,Disease,Disorder,BC44,0018901,I42.8,615092,C1960469,,,10985
54247,Posterior cortical atrophy,Disease,Disorder,8A21.0,0018899,G31.1,,C4275079,,10078207,
538934,X-linked lymphoproliferative disease due to XIAP deficiency,Disease,Disorder,4A01.22,0010385,D82.3,300635,C1845076,C564469,,10916
54251,Aseptic abscess syndrome,Disease,Disorder,,0018900,D89.8,,C4303863,,,10946
538931,X-linked lymphoproliferative disease due to SAP deficiency,Disease,Disorder,4A01.22,0024551,D82.3,308240,C5399825,,,
54057,Thrombotic thrombocytopenic purpura,Disease,Disorder,3B64.14,0018896,M31.1,274150,C0034155,D011697,10043648,
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
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
53698,Myosin storage myopathy,Disease,Disorder,8C72.0Y,0018889,G71.2,608358,C1842160,C564253,,7148
53715,Familial tumoral calcinosis,Disease,Disorder,5C64.5,0018891,M11.2,610455,C0263628,,10059364,10877
53696,Arthrogryposis-anterior horn cell disease syndrome,Malformation syndrome,Disorder,LD2F.1Y,0012750,Q68.8,611890,C2678471,,,
538872,Vegetative pyoderma gangrenosum,Clinical subtype,Subtype of disorder,EB21,0035238,L88,,C5680158,,,
53697,Gnathodiaphyseal dysplasia,Malformation syndrome,Disorder,LD24.2Y,0008151,M85.8,166260,C1833736,,,8698
53691,Congenital cornea plana,Morphological anomaly,Disorder,LA11.1,0018888,Q13.4,217300,C0344529,,,
538869,Bullous pyoderma gangrenosum,Clinical subtype,Subtype of disorder,EB21,0035237,L88,,C0406687,,,
538866,Pustular pyoderma gangrenosum,Clinical subtype,Subtype of disorder,EB21,0035236,L88,,C5681317,,,
53693,GRACILE syndrome,Disease,Disorder,5C53.2Y,0011308,E88.8,603358,C1864002,C537934,10081684,1
48818,Aceruloplasminemia,Disease,Disorder,3A00.Y,0011426,E83.1,604290,C0878682,C536004,,9499
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
48918,Focal myositis,Disease,Disorder,4A41.Y,0018845,M60.8,,C0751357,,10081943,
49382,Achromatopsia,Disease,Disorder,9B70,0018852,H53.5,616517,C0152200,,10000454,
49042,Dentinogenesis imperfecta,Disease,Disorder,LA30.8,0018849,K00.5,,C0011436,D003811,10054013,6258
538958,EBV-induced lymphoproliferative disease due to CD70 deficiency,Disease,Disorder,,34054,D82.3,618261,C5568559,,,
48431,Congenital cataracts-facial dysmorphism-neuropathy syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011402,Q87.8,604168,C1858726,C565822,,
538963,Combined immunodeficiency due to ITK deficiency,Disease,Disorder,,0013081,D82.3,613011,C3552634,,,
48471,Lissencephaly,Category,Group of disorders,,0018838,,,C0266463,D054082,10048911,12291
48435,Postinfectious vasculitis,Disease,Disorder,4A44.Y,0018837,I77.6,,C4510302,,,
48686,Primary effusion lymphoma,Disease,Disorder,2A81.9,0018842,C83.8,,C1292753,D054685,10065857,9247
48652,Phelan-McDermid syndrome,Malformation syndrome,Disorder,LD44.NY,,Q93.5,606232,,C536801,10082417,10130
50809,Talo-patello-scaphoid osteolysis,Malformation syndrome,Disorder,FB86.2,0012330,M89.5,609655,C4509954,,,10061
50810,Microlissencephaly-micromelia syndrome,Malformation syndrome,Disorder,,0018860,Q04.3,,C4509878,,,
50811,Lipodystrophy-intellectual disability-deafness syndrome,Disease,Disorder,LD2H.Y,0011976,Q78.8,608154,C4302920,,,
50812,Zellweger-like syndrome without peroxisomal anomalies,Disease,Disorder,5C53.2Y,0018861,Q87.8,,C4305104,,,
50814,Craniolenticulosutural dysplasia,Malformation syndrome,Disorder,LB70.Y,0011911,Q75.8,607812,C1843042,C564332,,
50815,Branchiogenic deafness syndrome,Malformation syndrome,Disorder,,0012209,Q87.0,609166,C1836673,C563780,,
50816,Spondylometaphyseal dysplasia with combined immunodeficiency,Disease,Disorder,,,,,C1842763,,,
49566,Acquired purpura fulminans,Disease,Disorder,3B20,0018854,D65,,C4510896,,10037556,
49804,Lichen amyloidosis,Disease,Disorder,5D00.0,0018856,L99.0*,,C5779561,,,
49827,Thiamine-responsive megaloblastic anemia syndrome,Disease,Disorder,5C63.Y,0009575,D53.1,249270,C0342287,C536510,,9210
50251,Pleural mesothelioma,Disease,Disorder,2C26.0,0006292,C45.0,156240,C1377913,D008654,10035603,7026
50945,Blomstrand lethal chondrodysplasia,Malformation syndrome,Disorder,LD24.1Y,0008970,Q78.8,215045,C1859148,C537914,,914
50944,Schöpf-Schulz-Passarge syndrome,Disease,Disorder,LD27.0Y,0009145,Q82.8,224750,C1857069,C565607,,
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,,,
51013,OBSOLETE: Melanoma-pancreatic cancer syndrome,Disease,Disorder,,,,,,,,
50839,Cat-scratch disease,Disease,Disorder,1B98,0005692,A28.1,,C0007361,D002372,10007729,27
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
50942,Striate palmoplantar keratoderma,Disease,Disorder,EC20.31,0018865,Q82.8,612908,C4707237,,,
50920,OBSOLETE: Multiple fibroadenoma of the breast,Disease,Disorder,,,,,,,,
50918,Kikuchi-Fujimoto disease,Disease,Disorder,4B2Y,0018864,I88.1,,C0398367,D020042,10069070,6834
52054,Craniosynostosis-intracranial calcifications syndrome,Malformation syndrome,Disorder,,0012035,Q87.0,608432,C4303809,,,
52022,Potocki-Shaffer syndrome,Malformation syndrome,Disorder,LD44.B1,0011022,Q93.5,601224,C1832588,C538356,,9762
52047,Braddock syndrome,Malformation syndrome,Disorder,,0012032,Q87.8,608406,C4303988,,,
51577,Cobblestone lissencephaly,Clinical group,Group of disorders,LD20.1,0018869,,,C0431376,D054222,,3277
51608,Generalized arterial calcification of infancy,Disease,Disorder,BD52,0018870,Q28.8,614473,C1859727,C537440,,8380
51188,Ethylmalonic encephalopathy,Disease,Disorder,5C50.E1,0011229,E88.8,602473,C1865349,C535737,,2198
541423,Growth delay-intellectual disability-hepatopathy syndrome,Disease,Disorder,,0014911,K76.8,617093,C5568558,,,
51208,Formiminoglutamic aciduria,Disease,Disorder,3A02.Y,0009240,E70.8,229100,C0268609,C537425,,9279
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
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,,,
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,,,
542301,EBV-induced lymphoproliferative disease due to CARMIL2 deficiency,Disease,Disorder,,29134,D82.3,618131,C5568557,,,
542310,Leukoencephalopathy with calcifications and cysts,Disease,Disorder,,0013803,I67.8,614561,C3281200,C000598644,10084766,10732
68419,Rare vascular anomaly,Category,Group of disorders,,,,,C5925045,,,
42642,PFAPA syndrome,Disease,Disorder,DA01.10,0018540,E85.0,,C4082167,,10070594,5657
42665,Tietz syndrome,Malformation syndrome,Disorder,EC23.2Y,0007077,E70.3,103500,C0391816,C536919,,7772
542323,CAR T cell therapy-associated cytokine release syndrome,Particular clinical situation in a disease or syndrome,Disorder,4A4Y,,D89.8,,C5680162,,,
43117,Acute tricyclic antidepressant poisoning,Particular clinical situation in a disease or syndrome,Disorder,NE60,0018547,T43.0,,C5681319,,,
542585,Auditory neuropathy-optic atrophy syndrome,Disease,Disorder,,0060582,E88.8,617717,C4521678,,,
43116,Serotonin syndrome,Disease,Disorder,8D85,0018546,T43.1,,C0699828,D020230,10040108,
542592,Necrobiosis lipoidica,Disease,Disorder,EE80.1,0006583,L92.1,,C0027538,D009335,,13040
43393,Lambert-Eaton myasthenic syndrome,Disease,Disorder,8C62,0018556,G73.1,,C0022972,D015624,10067685,6851
43119,Acute poisoning by drugs with membrane-stabilizing effect,Particular clinical situation in a disease or syndrome,Disorder,NE60,0018548,X44,,C5681320,,,
542643,Livedoid vasculopathy,Clinical syndrome,Disorder,EF50,0025514,L95.0,,C0343081,D000090122,10067527,12784
42775,PHACE syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011676,Q28.8,606519,C3698479,,10068032,8338
42738,Severe congenital neutropenia,Clinical group,Group of disorders,,0018542,,,C1853118,,10052210,13592
43115,Hereditary myopathy with lactic acidosis due to ISCU deficiency,Disease,Disorder,5C53.1,0009706,G71.3,255125,C1850718,C564972,,
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
543470,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,Disease,Disorder,,0034092,E88.8,620887,C5681321,,,
45453,Incessant infant ventricular tachycardia,Disease,Disorder,BC71.0Y,0018685,I47.2,,C0340487,,,
45452,Idiopathic neonatal atrial flutter,Disease,Disorder,BC81.20,0018684,P29.1,,C4275090,,,
542657,Isolated hyperchlorhidrosis,Disease,Disorder,,0007747,L98.8,143860,C1840437,,,
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
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
46487,Epidermolysis bullosa acquisita,Disease,Disorder,EB43,0018747,L12.3,,C0079293,D016107,10056508,6360
544254,SYNGAP1-related developmental and epileptic encephalopathy,Disease,Disorder,LD90.Y,0034099,G40.4,612621,C5680163,,,
46488,Linear IgA dermatosis,Disease,Disorder,EB42,0018748,L10.8,,C0406650,D062027,10024515,
46485,Superficial pemphigus,Clinical group,Group of disorders,,,,,C5681323,,,
46486,Mucous membrane pemphigoid,Disease,Disorder,EB41.1,0018746,L12.1,164185,C0030804,,10057052,5913
46348,Paroxysmal extreme pain disorder,Disease,Disorder,8E43.Y,0008179,G90.8,167400,C1833661,C563475,10081856,12854
46484,Oligodendroglial tumor,Clinical group,Group of disorders,,0018744,,,C1335110,,,13156
46059,Lathosterolosis,Disease,Disorder,5C52.10,0011816,Q87.8,607330,C1846421,C537880,,9711
46135,Primary central nervous system lymphoma,Disease,Disorder,2A8Z,0002571,C83.3,,C0280803,,10036685,9318
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,
46724,Brain arteriovenous malformation,Morphological anomaly,Disorder,8B22.40,0007154,Q28.2,108010,C0917804,D002538,10056371,3020
46627,Char syndrome,Malformation syndrome,Disorder,,0008209,Q87.8,169100,C1868570,C566815,,1237
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,,,
48372,Nodular regenerative hyperplasia of the liver,Histopathological subtype,Subtype of disorder,DB98.2,0018835,K76.8,,C5779783,,,10929
48162,Lewis-Sumner syndrome,Clinical subtype,Subtype of disorder,8C01.3,0018826,G61.8,,C1695985,,10065580,13070
544493,Streptococcus pneumoniae-associated hemolytic uremic syndrome,Clinical subtype,Subtype of disorder,,0035293,D58.8,,C5680164,,,
48104,Pyoderma gangrenosum,Disease,Disorder,EB21,0018824,L88,,C0085652,D017511,10037635,7510
544503,RNF13-related severe early-onset epileptic encephalopathy,Disease,Disorder,,0034106,G40.4,618379,C5193065,,,
47612,Felty syndrome,Disease,Disorder,FA20.0,0007603,M05.0,134750,C0015773,D005258,10016386,8234
544482,Infection-related hemolytic uremic syndrome,Disease,Disorder,3A21.Y,0034103,D59.3,,C5680165,,,
47159,Proximal renal tubular acidosis,Disease,Disorder,GB90.44,0008369,N25.8,604278,C0268435,,10037080,
544488,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,Disease,Disorder,,0033642,E72.4,619075,C5436741,,,
544469,PRUNE1-related neurological syndrome,Malformation syndrome,Disorder,,0060490,Q07.8,617481,C4479566,,,
544472,Atypical hemolytic uremic syndrome with complement gene abnormality,Etiological subtype,Subtype of disorder,,0035290,D58.8,615008,C5680166,,,
47045,Familial cold urticaria,Disease,Disorder,4A60.1,0018768,L50.2,120100,C0343068,,10064570,9535
544628,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,Disease,Disorder,GB90.42,0034110,E34.8,616026,C5681324,,,
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,,,
48377,Subcorneal pustular dermatosis,Disease,Disorder,EB2Y,0006614,L13.1,,C0600336,,10042342,13606
544578,"Congenital primary megaureter, refluxing and obstructed form",Clinical subtype,Subtype of disorder,,0035295,Q62.2,,C5681326,,,
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,,,
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,,,
555407,NAD(P)HX epimerase deficiency,Disease,Disorder,,0020781,E88.8,617186,C4310675,,,
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,,,
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,,,
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
68381,Neuromuscular disease,Category,Group of disorders,,0019056,,,C0027868,D009468,10029323,
555905,IgA pemphigus,Disease,Disorder,EB40.Y,0034127,L10.8,,C1274167,,,
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,,,
68385,Neurometabolic disease,Category,Group of disorders,,,,,C5681332,,,
556037,Late-onset familial hypoaldosteronism,Clinical subtype,Subtype of disorder,5A73,0035321,E27.4,,C5680172,,,
68388,OBSOLETE: Neurofibromatosis,Category,Group of disorders,,,,,,,,
556985,Early-onset calcifying leukoencephalopathy-skeletal dysplasia,Disease,Disorder,,0034143,G93.4,618476,C5681333,,,
556955,Pancreatic agenesis-holoprosencephaly syndrome,Disease,Disorder,,0034142,Q87.8,618500,C5681334,,,
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,,,
557056,Spastic ataxia-dysarthria due to glutaminase deficiency,Disease,Disorder,,0034146,E88.8,618412,C5681336,,,
557003,Oculoskeletodental syndrome,Disease,Disorder,,0034145,Q87.8,618440,C5193101,,,
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,,,
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
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,,,
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
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,
519388,Autosomal recessive anterior segment dysgenesis,Malformation syndrome,Disorder,LA11.2,0015017,Q13.8,617319,C4310622,,,
90064,Acute peripheral arterial occlusion,Particular clinical situation in a disease or syndrome,Disorder,BD30,,I74.4,,C5681343,,,
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,,,
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,,,
90069,Systemic monochloroacetate poisoning,Disease,Disorder,NE61,0019545,T60.3,,C4707283,,,
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
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
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,,,
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,,,
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,
519327,OBSOLETE: Syndromic vitreoretinopathy,Category,Group of disorders,,,,,C5681351,,,
90039,Hemoglobin D disease,Disease,Disorder,3A51.6,0019537,D58.2,,C0272080,,10055019,
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,,,
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
90058,Spinal cord injury,Particular clinical situation in a disease or syndrome,Disorder,ND51.2,0043797,T09.3,,C0037929,D013119,10041552,
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,,,
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
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,,,
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,,,
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
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,,,
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,,,
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,
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,,,
90035,Paroxysmal cold hemoglobinuria,Disease,Disorder,3A20.3,0019533,D59.6,,C0086774,C538618,,7335
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,,,
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
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
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
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,,,
89936,X-linked hypophosphatemia,Disease,Disorder,5C63.22,0010619,E83.3,307800,C3540852,,,12943
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,,
519270,Rare disorder with entropion,Category,Group of disorders,,,,,C5681385,,,
89843,Dystrophic epidermolysis bullosa pruriginosa,Disease,Disorder,EC32,0011398,Q81.2,604129,C1275114,C563192,,
89842,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form",Disease,Disorder,EC32,,Q81.2,,C4511044,,,12794
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,,
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
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
89937,Autosomal dominant hypophosphatemic rickets,Disease,Disorder,5C63.22,0008660,E83.3,193100,C0342642,C562791,,
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
90341,Early-onset sarcoidosis,Disease,Disorder,,,,,C1836122,,,
90342,Xeroderma pigmentosum variant,Disease,Disorder,LD27.Y,0010214,Q82.1,278750,C1848410,C536766,,5630
90345,OBSOLETE: Unclassified metaphyseal chondrodysplasia,Disease,Disorder,,,,,,,,
90348,Autosomal dominant cutis laxa,Disease,Disorder,LD28.2,0019571,Q82.8,616603,C0268350,C562627,,1639
90349,Autosomal recessive cutis laxa type 1,Disease,Disorder,LD28.2,0019572,Q82.8,219100,C0268351,C562628,,8480
90350,Autosomal recessive cutis laxa type 2,Clinical group,Group of disorders,,0019573,,,C0432337,,,
90354,Brittle cornea syndrome,Disease,Disorder,LD28.1Y,0009242,Q79.6,614170,C0268344,,,1019
90362,Primary intestinal lymphangiectasia,Disease,Disorder,LB15.Y,0007916,I89.0,152800,C2931241,C536567,,7873
90363,Secondary intestinal lymphangiectasia,Disease,Disorder,BD92.0,0019574,I89.0,,C4273969,,,
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
90301,Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,Disease,Disorder,5A44,0008696,E34.8,200170,C4305258,,,453
90291,Systemic sclerosis,Disease,Disorder,4A42,0005100,M34.9,181750,C0036421,D012595,10042953,9748
90308,Capillary-lymphatic-venous malformation with segmental distribution,Disease,Disorder,LD26.60,,Q87.2,149000,C5848351,,10051452,
90307,Parkes Weber syndrome,Disease,Disorder,LD26.60,0020783,Q87.2,608354,C5574870,,10075554,9787
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
90321,Cockayne syndrome type 1,Clinical subtype,Subtype of disorder,LD2B,0019569,Q87.8,216400,C0751039,,,1415
90324,Cockayne syndrome type 3,Clinical subtype,Subtype of disorder,LD2B,0008998,Q87.8,216400,C0751037,,,1417
90156,Centrifugal lipodystrophy,Disease,Disorder,EF01.1,0019552,E88.1,,C0406605,,,
90157,Drug-induced localized lipodystrophy,Disease,Disorder,EF01.1,0019553,E88.1,,C1274983,,,
90153,Mandibuloacral dysplasia with type A lipodystrophy,Clinical subtype,Subtype of disorder,LD27.6Z,0009557,Q87.5,248370,C5399785,C535705,,3374
90154,Mandibuloacral dysplasia with type B lipodystrophy,Clinical subtype,Subtype of disorder,LD27.6Z,0012074,Q87.5,608612,C1837756,C535706,,9989
90160,Pressure-induced localized lipoatrophy,Disease,Disorder,EF01.1,0019556,E88.1,,C1260961,,,
90158,Idiopathic localized lipodystrophy,Disease,Disorder,EF01.1,0019554,E88.1,,C0473566,,,
90159,Panniculitis-induced localized lipodystrophy,Disease,Disorder,EF01.1,0019555,E88.1,,C5190785,,,
90280,Chilblain lupus,Disease,Disorder,EB51.Y,0019557,L93.2,,C4551515,C535924,,
90281,Discoid lupus erythematosus,Disease,Disorder,EB51.0,0019558,L93.0,,C5574816,D008179,10013072,
90185,Non-hereditary late-onset primary lymphedema,Disease,Disorder,,,,,,,,
90186,Meige disease,Disease,Disorder,BD93.0,0007920,Q82.0,153200,C1704424,,,3324
90285,Lupus erythematosus panniculitis,Disease,Disorder,EB51.Y,0019561,L93.2,,C0030327,D015435,,
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
90080,Scarring in glaucoma filtration surgical procedures,Particular clinical situation in a disease or syndrome,Disorder,9D22,,H59.8,,C5681395,,,
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,
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,,,
514980,ATP13A2-related parkinsonism,Clinical group,Group of disorders,,,,,C5681397,,,
90081,AIDS wasting syndrome,Particular clinical situation in a disease or syndrome,Disorder,1C62.3Y,0005797,B22.2,,C0343755,D019247,10050309,
90118,Severe early-onset axonal neuropathy due to MFN2 deficiency,Disease,Disorder,,0019549,G60.0,,C4707897,,,
90117,"Hereditary motor and sensory neuropathy, Okinawa type",Disease,Disorder,8C20.Y,0011468,G60.0,604484,C1858338,C535717,,10131
90114,Autosomal dominant intermediate Charcot-Marie-Tooth disease,Clinical group,Group of disorders,8C20.2,0019548,,,C5680178,,,12436
90120,Hereditary motor and sensory neuropathy type 6,Disease,Disorder,8C20.1,0019551,G60.0,616505,C0393807,C562851,,
90119,Hereditary motor and sensory neuropathy with acrodystrophy,Disease,Disorder,8C20.1,0019550,G60.0,,C4749729,,,
525677,Genetic congenital malformation of the eye with glaucoma as a major feature,Category,Group of disorders,,,,,C5681398,,,
525731,Pediatric-onset Graves disease,Disease,Disorder,5A02.0,0033925,E05.0,,C5680179,,,
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,,,
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,
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
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,,,
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
88637,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,Clinical subtype,Subtype of disorder,8A44.3,,G11.1,616494,C2676243,C567313,,
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
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
88643,Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,Disease,Disorder,5A00.0Y,0019506,E03.8,,C4302879,,,
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
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,,,
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
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
88629,Tritanopia,Disease,Disorder,9D44,0008610,H53.5,190900,C0155017,,,
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,,,
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
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
88618,S-adenosylhomocysteine hydrolase deficiency,Disease,Disorder,5C50.B,0013404,E72.1,613752,C3151058,,,13177
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,,,
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,,,
87876,Sialidosis type 2,Disease,Disorder,5C56.21,0009738,E77.1,256550,C3888317,,,7183
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
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
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,,,
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,,,
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
522077,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,Disease,Disorder,,0033864,F84.8,618218,C4748715,,,
522043,Syndromic autoimmune enteropathy,Clinical group,Group of disorders,,,,,C5681440,,,
86913,Myoclonic epilepsy in non-progressive encephalopathies,Malformation syndrome,Disorder,,0019488,G40.4,,C4755298,,,
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,,,
86909,Myoclonic epilepsy of infancy,Disease,Disorder,8A61.1Y,0019486,G40.3,,C0751120,,,
86911,Epilepsy with myoclonic absences,Disease,Disorder,8A61.23,0019487,G40.4,,C0393703,,,
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,,,
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,,,
521438,Congenital vertebral-cardiac-renal anomalies syndrome,Malformation syndrome,Disorder,LD2F.1Y,0020831,Q87.8,617661,C5680183,,,
86900,Interdigitating dendritic cell sarcoma,Disease,Disorder,2B31.4,0009975,C96.4,267730,C1260326,D054739,10038804,
521432,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,Disease,Disorder,DB99.Y,0033853,K83.1,,C5681444,,,
86902,Follicular dendritic cell sarcoma,Disease,Disorder,2B31.5,0005764,C96.4,,C1260325,D054740,10075332,
521426,PLAA-associated neurodevelopmental disorder,Malformation syndrome,Disorder,,0060502,Q87.8,617527,C4479631,,,
86896,Histiocytic sarcoma,Disease,Disorder,2B31.1,0019479,C96.8,,C0334663,D054747,10076876,
521414,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,Disease,Disorder,,0054833,G60.0,618036,C4747974,,,
86897,Langerhans cell sarcoma,Disease,Disorder,2B31.3,0019480,C96.4,,C1260327,D054752,10078782,10491
521258,Xq25 microduplication syndrome,Malformation syndrome,Disorder,,0010507,Q98.8,300979,C5447842,,,
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,,
89833,Palmoplantar keratoderma with tonotubular keratin,Disease,Disorder,,,,,,,,
521308,Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,Malformation syndrome,Disorder,,0035018,Q87.0,,C5567892,,,
521390,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,Malformation syndrome,Disorder,,0015007,G11.4,617296,C4284592,,,
521399,NON RARE IN EUROPE: Non rare obesity,Disease,Disorder,,,,,,,,
521406,Dystonia-parkinsonism-hypermanganesemia syndrome,Disease,Disorder,,0014864,E83.8,617013,C4310765,,,
89838,Autosomal recessive generalized epidermolysis bullosa simplex,Disease,Disorder,EC30,0010976,Q81.0,601001,C5680184,,,
521411,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,Disease,Disorder,,0033850,G60.0,,C5569051,,,
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
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
88950,UMOD-related autosomal dominant tubulointerstitial kidney disease,Clinical subtype,Subtype of disorder,GB82,0008073,Q61.5,162000,C1859040,C548033,,10679
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,,
88939,Pseudohypoaldosteronism type 2B,Etiological subtype,Subtype of disorder,BA04.Y,0013777,I15.1,614491,C1840390,C564161,,
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
88918,Autosomal dominant Alport syndrome,Clinical subtype,Subtype of disorder,LD2H.Y,0007086,Q87.8,104200,C1567743,C536586,,624
88919,Autosomal recessive Alport syndrome,Clinical subtype,Subtype of disorder,LD2H.Y,0008762,Q87.8,620536,C1567744,C536587,,625
88917,X-linked Alport syndrome,Clinical subtype,Subtype of disorder,LD2H.Y,0010520,Q87.8,301050,C1567742,,,
93256,Fragile X-associated tremor/ataxia syndrome,Malformation syndrome,Disorder,8A03.1Y,0010382,G11.2,300623,C1839780,C564105,,
528105,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,Disease,Disorder,GB90.4Y,0060564,N25.8,617671,C4522164,,,
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,,,
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,,,
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,,
93260,Pfeiffer syndrome type 3,Clinical subtype,Subtype of disorder,LD24.G0,0019661,Q87.0,101600,C5438850,,,
93259,Pfeiffer syndrome type 2,Clinical subtype,Subtype of disorder,LD24.G0,0019660,Q87.0,101600,C5438849,,,
93258,Pfeiffer syndrome type 1,Clinical subtype,Subtype of disorder,LD24.G0,0019659,Q87.0,101600,C5438812,,,
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type",Malformation syndrome,Disorder,LD24.B0,,Q77.2,615633,C0432197,C537602,,4835
93269,"Short rib-polydactyly syndrome, Majewski type",Malformation syndrome,Disorder,LD24.B0,0019662,Q77.2,613091,C0024507,,,4833
93270,"Short rib-polydactyly syndrome, Saldino-Noonan type",Malformation syndrome,Disorder,LD24.B0,,Q77.2,613091,C0036069,,,4834
93267,Cloverleaf skull-multiple congenital anomalies syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011788,Q87.8,607161,C1846671,C564611,,
93268,"Short rib-polydactyly syndrome, Beemer-Langer type",Malformation syndrome,Disorder,LD24.B0,0010024,Q77.2,269860,C0432198,C537599,,4832
93282,"Spondyloepimetaphyseal dysplasia, PAPSS2 type",Disease,Disorder,LD24.3,0019666,Q77.7,612847,C2748515,C567551,,
93283,"Spondyloepiphyseal dysplasia, Kimberley type",Disease,Disorder,LD24.3,0012019,Q77.7,608361,C1842149,C564252,,
93279,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,Disease,Disorder,LD24.3,0011496,Q77.7,604864,C4275063,,,
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
93277,Monostotic fibrous dysplasia,Clinical subtype,Subtype of disorder,FB80.0,0019665,M85.0,,C0016064,D005358,,
93274,Thanatophoric dysplasia type 2,Clinical subtype,Subtype of disorder,LD24.02,0008547,Q77.1,187601,C1300257,C536508,,1402
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,
527497,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,Disease,Disorder,,0033043,E75.2,617560,C4479653,,,
93101,Renal hypoplasia,Morphological anomaly,Disorder,LB30.0Y,0019637,Q60.4,,C0266295,,10049102,
93110,Posterior urethral valve,Morphological anomaly,Disorder,LB31.2,0019640,Q64.2,618612,C0238506,,10036369,7439
93109,Congenital megacalycosis,Morphological anomaly,Disorder,LB31.Y,0019639,Q63.8,,C5545379,,,
527450,Severe myopia-generalized joint laxity-short stature syndrome,Malformation syndrome,Disorder,,0060556,Q87.5,617662,C4540020,,,
91547,Relapsing fever,Disease,Disorder,1C1J,0019633,A68.9,,C0035021,D012061,10038300,
93100,"Renal agenesis, unilateral",Clinical subtype,Subtype of disorder,LB30.00,0019636,Q60.0,617805,C0266294,,10053624,
527468,Diaphragmatic hernia-short bowel-asplenia syndrome,Malformation syndrome,Disorder,,0035105,Q87.8,,C5681454,,,
92050,Congenital tufting enteropathy,Disease,Disorder,DA90.Y,0013184,P78.3,613217,C4275062,,,10630
93160,Hypocalcemic vitamin D-resistant rickets,Disease,Disorder,5C63.21,0019642,E83.3,277440,C3536983,,,
93164,Transient pseudohypoaldosteronism,Disease,Disorder,GB90.4Y,0019643,N15.8,,C4273962,,,
93114,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,Disease,Disorder,8C20.2,0013758,G60.0,614455,C4302667,,,
93111,HNF1B-related autosomal dominant tubulointerstitial kidney disease,Clinical subtype,Subtype of disorder,5A13.6,0007669,N11.8,137920,C0431693,C535520,,
93126,Pauci-immune glomerulonephritis,Disease,Disorder,MF84,0019641,N05.7,,C0343196,,,
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,,,
93173,"Renal dysplasia, bilateral",Clinical subtype,Subtype of disorder,LB30.1,0019645,Q61.4,,C0431698,,,
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
93321,Isolated radial hemimelia,Morphological anomaly,Disorder,LB99.2,0019671,Q71.4,,C5925047,,,225
93320,Isolated ulnar hemimelia,Morphological anomaly,Disorder,LB99.3,0019670,Q71.5,,C5925048,,,
93325,Autosomal dominant Kenny-Caffey syndrome,Etiological subtype,Subtype of disorder,LD24.D,0007478,Q87.1,127000,C5681457,,,83
93324,Autosomal recessive Kenny-Caffey syndrome,Etiological subtype,Subtype of disorder,LD24.D,0009486,Q87.1,244460,C1855648,C537021,,8367
93323,Isolated fibular hemimelia,Morphological anomaly,Disorder,LB9A.2,0019672,Q72.6,,C5925049,,,8659
93329,Autosomal recessive omodysplasia,Clinical subtype,Subtype of disorder,LD24.A,0009779,Q78.8,258315,C1850318,C537746,,4076
93328,Autosomal dominant omodysplasia,Clinical subtype,Subtype of disorder,LD24.A,0008123,Q78.8,164745,C2750355,C567664,,3643
93336,Polydactyly of a triphalangeal thumb,Morphological anomaly,Disorder,LD26.2,0008270,Q69.1,174500,C1868114,,,5289
93335,Postaxial polydactyly type B,Morphological anomaly,Disorder,LB78.2,0019674,Q69.0,174200,C1868120,,,
93334,Postaxial polydactyly type A,Morphological anomaly,Disorder,LB78.2,0019673,Q69.0,615226,C3887487,,,
93333,Pelviscapular dysplasia,Malformation syndrome,Disorder,,0009845,Q87.5,260660,C1850040,C535550,,1555
93339,Polydactyly of a biphalangeal thumb and/or hallux,Morphological anomaly,Disorder,LB78.0,,Q69.1,174400,C1395852,C536332,,
93337,Polydactyly of an index finger,Morphological anomaly,Disorder,LB78.Y,0008271,Q69.0,174600,C1868113,C566784,,2256
527276,Encephalopathy due to mitochondrial and peroxisomal fission defect,Disease,Disorder,5C5Y,0054865,E88.8,617086,C5681458,,,
93338,Polysyndactyly,Morphological anomaly,Disorder,LB78.1,,Q70.4,174700,C0265553,,10063143,9903
93349,X-linked spondyloepimetaphyseal dysplasia,Disease,Disorder,LD24.3,0010248,Q77.7,300106,C1848097,C564714,,4979
93346,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type",Disease,Disorder,LD24.3,0008476,Q77.7,184250,C0700635,C537501,,134
93347,Anauxetic dysplasia,Disease,Disorder,LD24.3,0011773,Q77.7,617396,C1846796,C538256,,9657
93356,"Spondyloepimetaphyseal dysplasia, Missouri type",Disease,Disorder,LD24.3,0011198,Q77.7,602111,C1865832,C566574,,10618
93351,"Spondyloepimetaphyseal dysplasia, Irapa type",Disease,Disorder,LD24.3,0010076,Q77.7,271650,C0432213,C562958,,
93352,"Spondyloepimetaphyseal dysplasia, Shohat type",Disease,Disorder,LD24.3,0011252,Q77.7,602557,C1865185,C566523,,4980
93284,Spondyloepiphyseal dysplasia tarda,Disease,Disorder,LD24.3,0019667,Q77.7,313400,,,,10624
93292,Adenoma of pancreas,Disease,Disorder,2E92.8,0019668,D13.6,,C1142432,C538110,10058902,4204
93293,Okihiro syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011812,Q87.8,607323,C1623209,,,9182
93296,Achondrogenesis type 2,Clinical subtype,Subtype of disorder,LD24.50,0008702,Q77.0,200610,C0220685,C536017,,
93298,Achondrogenesis type 1B,Clinical subtype,Subtype of disorder,LD24.50,0010966,Q77.0,600972,C0265274,C536016,,
93297,Hypochondrogenesis,Clinical subtype,Subtype of disorder,LD24.51,0019669,Q77.0,200610,C0542428,C563007,,
93299,Achondrogenesis type 1A,Clinical subtype,Subtype of disorder,LD24.50,0008701,Q77.0,200600,C0265273,C536015,,
93302,"Brachyolmia, Maroteaux type",Malformation syndrome,Disorder,LD24.5Y,0013360,Q76.3,613678,C5399913,C563218,,
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
93307,Multiple epiphyseal dysplasia type 4,Disease,Disorder,LD24.61,0009189,Q77.3,226900,C1847593,C535504,,9793
93308,Multiple epiphyseal dysplasia type 1,Disease,Disorder,LD24.61,0007561,Q77.3,132400,C1838280,C535501,,2180
93311,Multiple epiphyseal dysplasia type 5,Disease,Disorder,LD24.61,0011765,Q77.3,607078,C1846843,C535505,,9794
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
93315,"Spondylometaphyseal dysplasia, 'corner fracture' type",Disease,Disorder,LD24.4,0008479,Q77.8,184255,C0432221,C535793,,4991
93316,"Spondylometaphyseal dysplasia, Schmidt type",Disease,Disorder,LD24.4,0008478,Q77.8,184253,C1866688,C535794,,504
93317,"Spondylometaphyseal dysplasia, Sedaghatian type",Malformation syndrome,Disorder,LD24.5Y,0009593,Q77.8,250220,C1855229,C535798,,4993
90692,Rare endocrine growth disease,Category,Group of disorders,,,,,C5681460,,,
529962,17q24.2 microdeletion syndrome,Malformation syndrome,Disorder,,0035151,Q93.5,,C5680185,,,
529864,Secondary erythromelalgia,Disease,Disorder,EG00,0035149,I73.8,,C0543820,,,
529852,Combined hepatocellular carcinoma and cholangiocarcinoma,Disease,Disorder,2C12.00,0044791,C22.1,,C0221287,,,
90673,Hypothyroidism due to TSH receptor mutations,Disease,Disorder,5A00.01,0010142,E03.1,275200,C3493776,C576976,,
90674,Isolated thyroid-stimulating hormone deficiency,Disease,Disorder,5A00.01,0010139,E03.1,275100,C4082174,C000610012,,10129
529831,Letrozole toxicity,Particular clinical situation in a disease or syndrome,Disorder,NE60,0035350,T88.7,,C5681461,,,
529819,NON RARE IN EUROPE: Exfoliation syndrome,Disease,Disorder,,,,,,,,
529808,Chronic bilirubin encephalopathy,Clinical syndrome,Disorder,,0035345,P57.8,,C5575229,,,
90658,Charcot-Marie-Tooth disease type 1E,Disease,Disorder,8C20.0,0007311,G60.0,118300,C2931686,C537986,,9190
529799,Acute bilirubin encephalopathy,Clinical syndrome,Disorder,,0035344,P57.8,,C5671282,,,
90791,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,Disease,Disorder,5A71.01,0008727,E25.0,201810,C0342471,C538236,,9152
90790,Congenital lipoid adrenal hyperplasia due to STAR deficency,Disease,Disorder,5A71.01,0008725,E25.0,201710,C0342474,C537027,,1465
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,,,
530033,Dermoid or epidermoid cyst of the central nervous system,Morphological anomaly,Disorder,,0035159,Q07.8,,C5680190,,,
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,,,
90695,Non-acquired panhypopituitarism,Disease,Disorder,5A61.0,0019591,E23.0,312000,C5680191,,10033662,
529965,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,Malformation syndrome,Disorder,,0060568,Q87.0,617682,C4540131,,10090383,
529970,Male infertility due to acephalic spermatozoa,Clinical subtype,Subtype of disorder,,0035153,N46,617187,,,,
90400,Scleromyxedema without monoclonal gammopathy,Clinical subtype,Subtype of disorder,EB90.11,0019585,L98.5,,C5681463,,,
90625,Rare X-linked non-syndromic sensorineural deafness type DFN,Etiological subtype,Subtype of disorder,AB50,0019586,H90.3,304500,C5680192,,,
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Etiological subtype,Subtype of disorder,AB50,0019587,H90.3,618094,C5779548,,,
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,Etiological subtype,Subtype of disorder,AB50,0019588,H90.3,618410,C5779549,,,
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
90397,Self-healing papular mucinosis,Disease,Disorder,EB90.1Y,0019582,L98.5,,C0406657,,,
529574,Duane retraction syndrome with congenital deafness,Malformation syndrome,Disorder,9C82.2,0035337,H50.8,617041,C5680193,,,
90398,Localized lichen myxedematosus with mixed features of different subtypes,Clinical subtype,Subtype of disorder,EB90.11,0019583,L98.5,,C5681465,,,
90399,Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,Clinical subtype,Subtype of disorder,EB90.11,0019584,L98.5,,C5681466,,,
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,,
90389,Telangiectasia macularis eruptiva perstans,Clinical subtype,Subtype of disorder,2A21.1Y,0019576,Q82.2,,C0263402,C000715747,10043192,
90390,Anonychia-onychodystrophy syndrome,Clinical subtype,Subtype of disorder,,0019577,Q84.3,614149,C1862840,C536378,,710
90653,Stickler syndrome type 1,Clinical subtype,Subtype of disorder,LD2F.1Y,0007160,Q87.5,609508,C2020284,C537492,,
90652,Otopalatodigital syndrome type 2,Malformation syndrome,Disorder,LD25.1,0010571,Q87.0,304120,C1844696,C538089,,5802
90654,Stickler syndrome type 2,Clinical subtype,Subtype of disorder,LD2F.1Y,0011493,Q87.5,604841,C1858084,C537493,,
529665,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,Malformation syndrome,Disorder,,0060627,Q87.8,617810,C4540520,,,
90647,Jervell and Lange-Nielsen syndrome,Disease,Disorder,BC65.0,0002441,I45.8,612347,C0022387,D029593,10057936,3048
90650,Otopalatodigital syndrome type 1,Malformation syndrome,Disorder,LD25.1,0010704,Q87.0,311300,C0265251,C536065,,5121
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
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,,,
91387,Familial thoracic aortic aneurysm and aortic dissection,Disease,Disorder,LD28.0Y,0019625,I71.2,616166,C4707243,,,2249
91396,Isolated cryptophthalmia,Morphological anomaly,Disorder,LA14.01,0007410,Q11.2,123570,C4305274,,,
91378,Hereditary angioedema,Clinical group,Group of disorders,4A00.14,0019623,,610618,C0019243,D054179,10019860,5979
91385,Acquired angioedema,Clinical group,Group of disorders,4A00.15,0019624,,300909,C2931758,C538173,10081035,8605
91412,Marcus-Gunn syndrome,Disease,Disorder,9A03.00,0007946,Q07.8,154600,C0266521,C535908,10064583,6972
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,,
91411,Congenital ptosis,Disease,Disorder,LA14.04,,Q10.0,616219,C0266573,,10015996,
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,,,
91355,Sheehan syndrome,Malformation syndrome,Disorder,5A61.0,0019618,E23.0,,C0242342,,10036297,7630
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,,,
91496,Snowflake vitreoretinal degeneration,Disease,Disorder,9B70,0008663,H35.5,193230,C1860405,C536677,,9706
91495,Persistent hyperplastic primary vitreous,Disease,Disorder,LA13.Y,0019631,Q14.0,611308,C0266568,D054514,,
91494,Macular coloboma-cleft palate-hallux valgus syndrome,Malformation syndrome,Disorder,,0009001,Q87.8,216800,C4302525,,,
91492,Early onset non-syndromic cataract,Disease,Disorder,LA12.1,0011060,Q12.0,601885,C5925050,,,
91546,Lyme disease,Disease,Disorder,1C1G,0019632,A69.2,,C0024198,D008193,10025169,
91500,Tubulointerstitial nephritis and uveitis syndrome,Disease,Disorder,9A96.1,0011885,N10,607665,C1843273,C536922,10069034,9252
91498,Familial congenital palsy of trochlear nerve,Disease,Disorder,9C81.1,0007626,H49.1,136480,C1850996,C565007,,
91481,Ring dermoid of cornea,Disease,Disorder,2F36.Y,0008387,D31.1,180550,C1867155,C535684,,9696
91416,Isolated congenital alacrima,Disease,Disorder,,0019627,Q10.6,601549,C4273963,,,
91415,OBSOLETE: Familial capillary hemangioma,Disease,Disorder,,,,,,,,
91414,Pilomatrixoma,Disease,Disorder,2F22,0007564,D23.6,132600,C0206711,D018296,10035040,9452
91491,Congenital ectropion uveae,Malformation syndrome,Disorder,LA14.03,0019630,Q13.8,,C1303012,,,
91490,Isolated congenital sclerocornea,Morphological anomaly,Disorder,LA11.1,0019629,Q13.3,181700,C0344533,,,
91489,Isolated congenital megalocornea,Morphological anomaly,Disorder,LA11.1,0010649,Q15.8,309300,C4518341,,,12648
91483,Rieger anomaly,Morphological anomaly,Disorder,LA11.2,0019628,Q13.8,602482,C0265341,,10059198,
91127,Adenovirus infection in immunocompromised patients,Particular clinical situation in a disease or syndrome,Disorder,1D90,,B34.0,,C5681468,,,
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,,,
91131,DK1-CDG,Disease,Disorder,5C54.2,0012556,E77.8,610768,C1835849,C563666,,12393
91132,Ichthyosis-hypotrichosis syndrome,Disease,Disorder,LD27.2,0011218,Q80.8,602400,C4510566,,,10116
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
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Disease,Disorder,5A71.01,0008728,E25.0,201910,C4273964,,,12665
90795,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,Disease,Disorder,5A71.01,0008729,E25.0,202010,C0268292,C535978,10000002,5658
90796,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",Disease,Disorder,LD2A.3,0019597,E29.1,202110,C5681470,,,
90797,Partial androgen insensitivity syndrome,Disease,Disorder,LD2A.4,0010720,E34.5,312300,C0268301,,,5692
90970,Primary lipodystrophy,Category,Group of disorders,,,,,C5681471,,,
91024,Autosomal recessive axonal hereditary motor and sensory neuropathy,Clinical group,Group of disorders,8C20.1,,,,C5680194,,,
91088,Other metabolic disease,Category,Group of disorders,,,,,,,,
91347,TSH-secreting pituitary adenoma,Disease,Disorder,2F37.Y,0019611,D35.2,,C0346303,,,
91349,Non-functioning pituitary adenoma,Disease,Disorder,2F37.0,0019613,D35.2,,C0338078,,10029556,
91348,Functioning gonadotropic adenoma,Disease,Disorder,2F37.Y,0019612,D35.2,,C0346304,,,
91351,Pituitary dermoid and epidermoid cysts,Disease,Disorder,5A61.0,0019615,E23.0,,C5190781,,,
91350,Pituitary deficiency due to Rathke cleft cysts,Disease,Disorder,5A61.0,0019614,E23.0,,C5190782,,,
91353,OBSOLETE: Choristoma,Disease,Disorder,,,,,,,,
91352,Germinoma of the central nervous system,Clinical subtype,Subtype of disorder,2A00.1Y,,C72.9,,C1333813,,10065852,
91136,Acquired monoclonal Ig light chain-associated Fanconi syndrome,Disease,Disorder,GB90.42,0019604,E72.0,,C4510369,,,
91135,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,Disease,Disorder,,0012570,D68.4,610842,C4049241,,10076864,
91138,Cryoglobulinemic vasculitis,Disease,Disorder,4A44.90,0007407,D89.1,123550,C0340992,,10027756,6386
91137,Immunotactoid or fibrillary glomerulopathy,Clinical group,Group of disorders,,0019605,,,C5680195,,,12741
91140,Unspecified juvenile idiopathic arthritis,Disease,Disorder,FA24.Y,0019607,M08.8,,C5680196,,,
91139,Simple cryoglobulinemia,Disease,Disorder,4B22,0019606,D89.1,,C4510006,,,6217
528623,Hereditary angioedema with C1Inh deficiency,Disease,Disorder,4A00.14,0033946,D84.1,619360,C4552294,,10080955,
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,
528663,Acquired angioedema with C1Inh deficiency,Disease,Disorder,4A00.15,0033948,D84.1,,C5848086,,,
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
79397,Epidermolysis bullosa simplex with mottled pigmentation,Disease,Disorder,EC30,0007556,Q81.0,131960,C0432316,C535959,,9737
79394,Congenital ichthyosiform erythroderma,Disease,Disorder,EC20.02,0019306,Q80.2,617574,C0079154,,,
79395,Keratoderma hereditarium mutilans with ichthyosis,Disease,Disorder,EC20.30,0011396,Q82.8,604117,C1858805,,,
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
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
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
79401,PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,Disease,Disorder,EC30,0007555,Q81.0,131950,C0432317,C535962,,2148
79400,Localized epidermolysis bullosa simplex,Disease,Disorder,EC30,,Q81.0,619594,C0080333,,,2146
79403,Junctional epidermolysis bullosa with pyloric atresia,Disease,Disorder,EC31,0009183,Q81.8,226730,C1856934,C535377,,
79402,Intermediate generalized junctional epidermolysis bullosa,Disease,Disorder,,0019307,Q81.8,619816,C0432326,,,
79405,Junctional epidermolysis bullosa inversa,Disease,Disorder,EC31,0019308,Q81.8,226650,C2673609,,,
79404,Severe generalized junctional epidermolysis bullosa,Disease,Disorder,EC31,0009182,Q81.1,226700,C0079683,,,
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,,,
79409,Recessive dystrophic epidermolysis bullosa inversa,Disease,Disorder,EC32,0019310,Q81.2,226600,C1275113,,,
79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",Disease,Disorder,EC32,0009179,Q81.2,226600,C4510043,,,6308
79411,Self-improving dystrophic epidermolysis bullosa,Disease,Disorder,EC32,0007548,Q81.2,131705,C1851573,C536979,,10010
79410,"Localized dystrophic epidermolysis bullosa, pretibial form",Clinical subtype,Subtype of disorder,EC32,0007552,Q81.2,131850,C0432321,,,2155
79452,Milroy disease,Disease,Disorder,BD93.0,,Q82.0,611944,C1704423,,,7220
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
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
79457,Maculopapular cutaneous mastocytosis,Disease,Disorder,2A21.10,0019316,Q82.2,154800,C0042111,D014582,10046752,
79455,Cutaneous mastocytoma,Disease,Disorder,2A21.1Y,0019314,Q82.2,,C0343115,D054705,,12687
79435,Oculocutaneous albinism type 4,Disease,Disorder,EC23.20,0011683,E70.3,606574,C1847836,C564696,,
79434,Oculocutaneous albinism type 1B,Clinical subtype,Subtype of disorder,EC23.20,0011749,E70.3,606952,C1847024,C537729,,594
79433,Oculocutaneous albinism type 3,Disease,Disorder,EC23.20,0008747,E70.3,203290,C0342683,C537189,,4039
79432,Oculocutaneous albinism type 2,Disease,Disorder,EC23.20,0008746,E70.3,203200,C0268495,C537730,,4038
79431,Oculocutaneous albinism type 1A,Clinical subtype,Subtype of disorder,EC23.20,0008745,E70.3,203100,C4551504,,,
79430,Hermansky-Pudlak syndrome,Disease,Disorder,EC23.20,0019312,E70.3,614171,C0079504,D022861,10071775,6643
79445,Pseudopseudohypoparathyroidism,Disease,Disorder,5A50.1,0012912,E20.1,612463,C0033835,D011556,,7860
79444,Pseudohypoparathyroidism type 1C,Disease,Disorder,5A50.1,0012911,E20.1,612462,C2932716,C548076,,10681
79443,Pseudohypoparathyroidism type 1A,Disease,Disorder,5A50.1,0007078,E20.1,103580,C3494506,,,7486
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,,,
79484,Phakomatosis cesiomarmorata,Clinical subtype,Subtype of disorder,LD2D.Y,0019326,Q85.8,,C3839296,,,
79485,Phakomatosis spilorosea,Clinical subtype,Subtype of disorder,LD2D.Y,0019327,Q85.8,,C3839763,,,
79478,Griscelli syndrome type 3,Clinical subtype,Subtype of disorder,EC23.2Y,0012220,E70.3,609227,C1836573,C537303,,9715
79479,Pemphigus vegetans,Disease,Disorder,EB40.0Y,0019322,L10.1,,C0263316,,10057053,
79480,Pemphigus erythematosus,Disease,Disorder,EB40.1,0019323,L10.4,,C0263312,,10058917,
79481,Pemphigus foliaceus,Disease,Disorder,EB40.1,0019324,L10.2,,C0263313,,10057069,7354
79490,Microcystic lymphatic malformation,Malformation syndrome,Disorder,LA90.11,0019329,D18.1,,C4738056,,,13020
79492,Pili gemini,Disease,Disorder,ED73.Y,0019330,L67.8,,C0019571,C537188,,
79493,Brooke-Spiegler syndrome,Disease,Disorder,2F22,0011512,D23.5,132700,C1857941,,10087912,10179
79486,Cystic hygroma,Malformation syndrome,Disorder,,,,257350,,,,
79489,Macrocystic lymphatic malformation,Malformation syndrome,Disorder,LA90.10,0019328,D18.1,,C0205828,,,6010
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
79477,Griscelli syndrome type 2,Clinical subtype,Subtype of disorder,4A01.23,0011872,E70.3,607624,C1868679,C537302,,4483
79476,Griscelli syndrome type 1,Clinical subtype,Subtype of disorder,EC23.2Y,0008962,E70.3,214450,C1859194,C537301,,2566
79473,Variegate porphyria,Disease,Disorder,5C58.13,0008297,E80.2,176200,C0162532,D046350,,7848
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
79257,GM1 gangliosidosis type 3,Clinical subtype,Subtype of disorder,5C56.00,0009262,E75.1,230650,C0268273,,,2431
79256,GM1 gangliosidosis type 2,Clinical subtype,Subtype of disorder,5C56.00,0009261,E75.1,230600,C0268272,,,10126
79255,GM1 gangliosidosis type 1,Clinical subtype,Subtype of disorder,5C56.00,0009260,E75.1,230500,C0268271,,,6479
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
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
79246,Pyruvate dehydrogenase phosphatase deficiency,Clinical subtype,Subtype of disorder,5C53.02,0012120,E74.4,608782,C1837429,C536258,,9888
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,,
79241,Biotinidase deficiency,Disease,Disorder,5C50.E0,0009665,E53.8,253260,C0220754,D028921,10071434,894
79238,Galactose epimerase deficiency,Disease,Disorder,5C51.4Y,0009257,E74.2,230350,C0751161,,,5392
79239,Classic galactosemia,Disease,Disorder,5C51.40,0009258,E74.2,230400,C0268151,,,13639
79244,Pyruvate dehydrogenase E2 deficiency,Clinical subtype,Subtype of disorder,5C53.02,0009502,E74.4,245348,C1855565,C565448,,
79242,Holocarboxylase synthetase deficiency,Disease,Disorder,5C50.E0,0009666,E53.8,253270,C0268581,D028922,,2721
79243,Pyruvate dehydrogenase E1-alpha deficiency,Clinical subtype,Subtype of disorder,5C53.02,0010717,E74.4,312170,C1839413,C564071,,4620
79299,Congenital glucokinase-related hyperinsulinism,Disease,Disorder,,0011236,E16.1,602485,C4274019,,,2818
79298,Diazoxide-resistant focal hyperinsulinism,Clinical group,Group of disorders,,0019265,,,C5680204,,,
79301,Congenital bile acid synthesis defect type 1,Disease,Disorder,5C52.11,0011906,K76.8,607765,C1843116,C535442,,9813
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
79292,Fish-eye disease,Clinical subtype,Subtype of disorder,5C81.0,0007620,E78.6,136120,C0342895,,,6450
79278,Autosomal erythropoietic protoporphyria,Disease,Disorder,5C58.12,0019263,E80.0,177000,C0162568,D046351,10015289,4527
79279,Alpha-N-acetylgalactosaminidase deficiency type 1,Clinical subtype,Subtype of disorder,5C56.21,0012221,E77.1,609241,C1836544,C536631,,116
79280,Alpha-N-acetylgalactosaminidase deficiency type 2,Clinical subtype,Subtype of disorder,5C56.21,0012222,E77.1,609242,C1836522,,,9161
79281,Alpha-N-acetylgalactosaminidase deficiency type 3,Clinical subtype,Subtype of disorder,5C56.21,0019264,E77.1,609241,C5437471,,,3903
79282,"Methylmalonic acidemia with homocystinuria, type cblC",Clinical subtype,Subtype of disorder,5C50.E0,0010184,D58.8,277400,C1848561,,,
79283,"Methylmalonic acidemia with homocystinuria, type cblD",Clinical subtype,Subtype of disorder,5C50.E0,0010185,E72.1,277410,C1848552,C564743,,
79284,Methylmalonic acidemia with homocystinuria type cblF,Clinical subtype,Subtype of disorder,5C50.E0,0010183,E72.1,277380,C1848578,C564747,,
79270,Sanfilippo syndrome type B,Etiological subtype,Subtype of disorder,5C56.3Y,0009656,E76.2,252920,C0086648,,,7072
79271,Sanfilippo syndrome type C,Etiological subtype,Subtype of disorder,5C56.3Y,0009657,E76.2,252930,C0086649,,,7073
79272,Sanfilippo syndrome type D,Etiological subtype,Subtype of disorder,5C56.3Y,0009658,E76.2,252940,C0086650,,,7074
79273,Hereditary coproporphyria,Disease,Disorder,5C58.1Y,0007369,E80.2,121300,C0162531,D046349,10019866,6619
79276,Acute intermittent porphyria,Disease,Disorder,5C58.1Y,0008294,E80.2,176000,C0162565,D017118,,5732
79277,Congenital erythropoietic porphyria,Disease,Disorder,5C58.12,,E80.0,263700,C5886774,D017092,,4446
79333,COG7-CDG,Disease,Disorder,5C54.2,0012118,E77.8,608779,C2931010,C535754,,9842
79332,B4GALT1-CDG,Disease,Disorder,5C54.2,0011772,E77.8,607091,C2931009,C535753,,9841
79330,MOGS-CDG,Disease,Disorder,5C54.0,0011629,E77.8,606056,C1853736,C565264,,10767
79329,MGAT2-CDG,Disease,Disorder,5C54.0,0008908,E77.8,212066,C2931008,C535752,,9828
79328,ALG9-CDG,Disease,Disorder,5C54.0,0012117,E77.8,263210,C2931006,C535750,,9839
79327,ALG1-CDG,Disease,Disorder,5C54.0,0012052,E77.8,608540,C2931005,C535749,,9838
79326,ALG2-CDG,Disease,Disorder,5C54.0,0011933,E77.8,607906,C1842836,C000623088,,9836
79325,ALG8-CDG,Disease,Disorder,5C54.0,0011969,E77.8,608104,C2931002,C535746,,9834
79324,ALG12-CDG,Disease,Disorder,5C54.0,0011783,E77.8,607143,C2931001,C535745,,9833
79323,MPDU1-CDG,Disease,Disorder,5C54.2,0012211,E77.8,609180,C1836669,C535744,,9832
79322,DPM1-CDG,Disease,Disorder,5C54.2,0012123,E77.8,608799,C1837396,C535743,,9831
79321,ALG3-CDG,Disease,Disorder,5C54.0,0010998,E77.8,601110,C1832736,C535742,,9827
79320,ALG6-CDG,Disease,Disorder,5C54.0,0011291,E77.8,603147,C2930997,C535741,,9829
79319,MPI-CDG,Disease,Disorder,5C54.0,0011257,E77.8,602579,C1865145,C535740,,9830
79318,PMM2-CDG,Disease,Disorder,5C54.0,0008907,E77.8,212065,C0349653,C535739,,9826
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
79315,D-2-hydroxyglutaric aciduria,Disease,Disorder,5C50.E1,0010924,E72.8,613657,C1833429,,,5661
79312,Vitamin B12-unresponsive methylmalonic acidemia type mut-,Clinical subtype,Subtype of disorder,5C50.E0,0019267,E71.1,251000,C0342719,,,
79310,Vitamin B12-responsive methylmalonic acidemia type cblA,Clinical subtype,Subtype of disorder,5C50.E0,0009613,E71.1,251100,C1855109,C537360,,
79311,Vitamin B12-responsive methylmalonic acidemia type cblB,Clinical subtype,Subtype of disorder,5C50.E0,0009614,E71.1,251110,C1855102,C537361,,
79306,Progressive familial intrahepatic cholestasis type 1,Clinical subtype,Subtype of disorder,5C58.03,0008892,K76.8,211600,C4551898,C535933,,9802
79304,Progressive familial intrahepatic cholestasis type 2,Clinical subtype,Subtype of disorder,5C58.03,0011156,K76.8,601847,C3489789,C535934,,1288
79305,Progressive familial intrahepatic cholestasis type 3,Clinical subtype,Subtype of disorder,5C58.03,0011214,K76.8,602347,C1865643,C535935,,1289
79302,Congenital bile acid synthesis defect type 3,Disease,Disorder,5C52.11,0013439,K76.8,613812,C4304715,C566340,,
79303,Congenital bile acid synthesis defect type 2,Disease,Disorder,5C52.11,0009339,K76.8,235555,C1856127,C535443,,10045
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,,,
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,,,
79350,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",Etiological subtype,Subtype of disorder,5C50.6,0013531,E72.8,614023,C1291463,,,
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,,
79347,"Chondrodysplasia punctata, Toriello type",Malformation syndrome,Disorder,LD24.04,0008973,Q77.3,215105,C4275076,,,
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
85191,Singleton-Merten dysplasia,Malformation syndrome,Disorder,LD24.KY,0008429,Q78.8,616298,C0432254,C537343,,122
85188,"Metaphyseal dysplasia, Braun-Tinschert type",Malformation syndrome,Disorder,LD24.1Y,0011620,Q78.5,605946,C1853825,C565271,,
85193,Idiopathic juvenile osteoporosis,Malformation syndrome,Disorder,FB83.1Y,0019409,M81.5,615221,C0264080,C537700,10088561,6760
85192,Calvarial doughnut lesions-bone fragility syndrome,Malformation syndrome,Disorder,LD24.KY,0007470,M85.8,126550,C1852022,C565089,,
85195,Familial expansile osteolysis,Disease,Disorder,FB86.2,0008275,M89.5,174810,C0432292,C536335,,9168
85194,Spondylo-ocular syndrome,Malformation syndrome,Disorder,LD24.KY,0011604,Q87.5,605822,C4225412,,,
85197,Genochondromatosis type 1,Disease,Disorder,LD24.2Y,0019411,Q78.4,137360,C5438970,,,
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
85198,Dysspondyloenchondromatosis,Malformation syndrome,Disorder,LD24.2Y,0019412,Q78.4,,C4302548,,,
85201,Genitopatellar syndrome,Malformation syndrome,Disorder,LD2F.1Y,0011640,Q87.8,606170,C1853566,C565255,,10994
85200,Ischio-vertebral syndrome,Malformation syndrome,Disorder,,0019413,,,C4274732,,,
85203,Acropectoral syndrome,Malformation syndrome,Disorder,LB73.13,0011621,Q74.0,605967,C1853812,C535664,,8485
85202,Keutel syndrome,Malformation syndrome,Disorder,LD2F.1Y,0009495,Q87.8,245150,C1855607,C536167,,8449
85273,"X-linked intellectual disability, Abidi type",Malformation syndrome,Disorder,LD90,0010285,Q87.8,300262,C4305021,C535556,,9157
85212,Fetal Gaucher disease,Clinical subtype,Subtype of disorder,5C56.0Y,0011945,E75.2,608013,C1842704,C564306,,10675
85274,Syndromic X-linked intellectual disability 7,Malformation syndrome,Disorder,LD90,0010270,Q87.8,300218,C1846170,C537449,,9156
85275,Microphthalmia-ankyloblepharon-intellectual disability syndrome,Malformation syndrome,Disorder,LD21.0,,Q11.2,,C1844948,,,5066
85276,"X-linked intellectual disability, Armfield type",Malformation syndrome,Disorder,LD90,0010284,Q87.8,300261,C4305022,,,
85277,"X-linked intellectual disability, Cantagrel type",Malformation syndrome,Disorder,LD90,0010483,Q87.8,300912,C4305023,,,
85278,Christianson syndrome,Malformation syndrome,Disorder,8A03.1Y,0010278,Q87.8,300243,C2678194,C567484,,10572
85279,KDM5C-related syndromic X-linked intellectual disability,Malformation syndrome,Disorder,LD90,0010355,Q87.8,300534,C5681493,,,
85280,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,Malformation syndrome,Disorder,LD90,0010332,Q87.8,300471,C4304935,,,
85281,OBSOLETE: MECP2 duplication syndrome,Malformation syndrome,Disorder,,,,,,,,
85282,MEHMO syndrome,Malformation syndrome,Disorder,LD29,0010258,Q87.8,300148,C1846278,C537451,,9178
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,,
85285,"X-linked intellectual disability, Schimke type",Malformation syndrome,Disorder,LD90,0010729,Q87.8,312840,C4305027,C536630,,9288
85286,"X-linked intellectual disability, Shashi type",Malformation syndrome,Disorder,LD90,0010277,Q87.8,300238,C4305085,,,4119
85287,"X-linked intellectual disability, Siderius type",Malformation syndrome,Disorder,LD90,0010286,Q87.8,300263,C4305078,C537333,10082377,9704
85288,"X-linked intellectual disability, Stocco Dos Santos type",Malformation syndrome,Disorder,LD90,0010325,Q87.8,300434,C4305076,,,1133
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
85292,X-linked spinocerebellar ataxia type 4,Disease,Disorder,8A03.1Y,0010534,G11.1,301840,C1844933,C537316,,9980
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,,,
85317,X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,Malformation syndrome,Disorder,LD90,0019416,Q87.8,,C4304919,,,
85297,X-linked spinocerebellar ataxia type 3,Malformation syndrome,Disorder,8A03.1Y,0010529,G11.1,301790,C1844936,C537315,,9981
85295,"HSD10 disease, atypical type",Clinical subtype,Subtype of disorder,5C52.01,0037149,G25.5,300438,C5680206,,,
85294,X-linked epilepsy-learning disabilities-behavior disorders syndrome,Disease,Disorder,,0010339,Q87.8,300491,C4273990,,,
85321,"Deafness-intellectual disability syndrome, Martin-Probst type",Malformation syndrome,Disorder,LD2H.Y,0010353,Q87.8,300519,C1845285,C564495,,
85320,X-linked intellectual disability-macrocephaly-macroorchidism syndrome,Malformation syndrome,Disorder,LD90,0019419,Q87.8,,C4304406,,,
85319,X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,Malformation syndrome,Disorder,LD90,0019418,Q87.8,,C4304917,,,
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,,,
85324,"X-linked intellectual disability, Shrimpton type",Malformation syndrome,Disorder,LD90,0010409,Q87.8,300709,C2678039,C567474,,
85323,"X-linked intellectual disability, Seemanova type",Disease,Disorder,LD20.2,0019421,Q87.8,,C4305088,,,
85322,"X-linked intellectual disability, Pai type",Malformation syndrome,Disorder,LD90,0019420,Q87.8,,C4305026,,,
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,,,
85326,"X-linked intellectual disability, Stoll type",Malformation syndrome,Disorder,LD90,0019423,Q87.8,,C4305075,,,
85327,X-linked intellectual disability-acromegaly-hyperactivity syndrome,Disease,Disorder,LD90,0019424,Q87.8,,C4304407,,,
85332,X-linked intellectual disability-retinitis pigmentosa syndrome,Disease,Disorder,LD90,0010364,H35.5,300578,C0795873,C537046,,8360
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,,,
85337,"X-linked intellectual disability, Zorick type",Disease,Disorder,,,,,,,,
85334,"X-linked neurodegenerative syndrome, Bertini type",Disease,Disorder,LD90,0019427,G31.8,,C4305133,,,
85335,Fried syndrome,Malformation syndrome,Disorder,,0019428,Q87.8,304340,C4305134,,,
85410,Oligoarticular juvenile idiopathic arthritis,Disease,Disorder,FA24.0,0019433,M08.4,,C2931171,C536312,,4261
85414,Systemic-onset juvenile idiopathic arthritis,Disease,Disorder,FA24.4,0019434,M08.2,604302,C0087031,,10042061,10966
85338,X-linked intellectual disability-ataxia-apraxia syndrome,Disease,Disorder,8A03.1Y,0019430,G31.8,,C4305139,,,
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,Disease,Disorder,FA24.1,,M08.3,,C3890205,,,3931
85443,AL amyloidosis,Disease,Disorder,5D00.0,0019438,E85.9,254500,C0268381,D000075363,10036673,5797
85442,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,Disease,Disorder,5A61.0,0009880,E23.0,262700,C4303613,,,10604
85446,Wild type ABeta2M amyloidosis,Disease,Disorder,5D00.3,0019440,E85.3,,C0268405,,,
85445,AA amyloidosis,Disease,Disorder,5D00.1,0019439,E85.3,,C3536715,C000718787,10039811,10560
85436,Psoriasis-related juvenile idiopathic arthritis,Disease,Disorder,FA24.2,0019436,M09.0*,,C3714758,,10076674,10970
85435,Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,Disease,Disorder,FA24.1,0019435,M08.0,,C4048747,,,
85438,Enthesitis-related juvenile idiopathic arthritis,Disease,Disorder,FA24.3,0019437,M08.8,,C3495919,,,10969
85458,Hereditary cerebral amyloid angiopathy,Disease,Disorder,8B22.3,,I68.0*,605714,C1510489,,,10266
85453,X-linked reticulate pigmentary disorder,Disease,Disorder,5D00.Y,0010523,L99.0*,301220,C1845050,C564461,,
86788,X-linked severe congenital neutropenia,Disease,Disorder,4B00.00,0010294,D70,300299,C1845987,C564539,,3981
86309,DPAGT1-CDG,Disease,Disorder,5C54.0,0011964,E77.8,608093,C2931004,C535748,,9837
85448,AGel amyloidosis,Disease,Disorder,5D00.2Y,0007097,E85.1,105120,C0936273,,,2339
85447,ATTRV30M amyloidosis,Clinical subtype,Subtype of disorder,5D00.20,0100552,E85.1,115430,C0268384,,,
85451,ATTRV122I amyloidosis,Clinical subtype,Subtype of disorder,5D00.20,0019441,E85.4,105210,C4275067,,,
85450,Hereditary amyloidosis with primary renal involvement,Disease,Disorder,5D00.2Y,0007099,E85.0,105200,C0268389,,,8282
86812,POMT1-related limb-girdle muscular dystrophy R11,Disease,Disorder,8C70.41,0012248,G71.0,609308,C1836373,,,
86813,Helicoid peripapillary chorioretinal degeneration,Disease,Disorder,9B70,0007176,H31.2,108985,C1862382,C566236,,
86814,Familial adult myoclonic epilepsy,Disease,Disorder,8A61.32,0019448,G40.3,618074,C4273988,,,
86815,Aplasia of lacrimal and salivary glands,Disease,Disorder,LA14.10,0008397,Q38.4,180920,C0158667,C562407,,
86789,Isolated patella aplasia/hypoplasia,Morphological anomaly,Disorder,LB95,0008205,Q74.1,168860,C1868577,C535568,,8709
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,,,
86820,Familial avascular necrosis of femoral head,Disease,Disorder,FB82.1,0012126,M87.8,617383,C4275066,,,10914
86821,Lissencephaly type 3-familial fetal akinesia sequence syndrome,Malformation syndrome,Disorder,LD20.1,0019449,Q04.3,601160,C4305255,,,
86822,Lissencephaly type 3-metacarpal bone dysplasia syndrome,Malformation syndrome,Disorder,LD20.1,0011004,Q04.3,601160,C4305254,,,
86823,Lissencephaly with cerebellar hypoplasia,Clinical group,Group of disorders,,0019450,,,C4274995,,,
86816,Congenital analbuminemia,Disease,Disorder,5D0Y,0014449,E88.0,616000,C4305253,,,13056
512017,Chronic lymphoproliferative disorder of natural killer cells,Disease,Disorder,2A90.2,0004234,C91.7,,C1512709,,,
86817,Hemolytic anemia due to adenylate kinase deficiency,Disease,Disorder,3A10.Y,0012967,D55.3,612631,C2675459,C567228,,
86818,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,Disease,Disorder,LD2H.Y,0010263,Q87.8,300990,C1846242,C564570,,
86819,Atrichia with papular lesions,Disease,Disorder,EC21.2,0008847,L65.8,209500,C1859592,C565924,,
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
86841,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,Disease,Disorder,2A36,0007925,D46.6,153550,C1292779,,10067096,8723
86839,Myelodysplastic neoplasm with increased blasts,Disease,Disorder,2A35,0019454,D46.2,,C0002894,D000754,10038270,
86836,Refractory cytopenia with multilineage dysplasia,Clinical group,Group of disorders,2A34,,,,C0796466,,10067959,
512103,Autosomal recessive epidermolytic ichthyosis,Disease,Disorder,EC20.03,0044742,Q80.8,620707,C5437635,,,
86834,Juvenile myelomonocytic leukemia,Disease,Disorder,2A42,0011908,C93.3,607785,C0349639,D054429,10023249,9884
86830,"Chronic myeloproliferative disease, unclassifiable",Disease,Disorder,2A22,0019452,D47.1,131440,C4757947,,,
86829,Chronic neutrophilic leukemia,Disease,Disorder,2A20.1,0019451,D47.1,,C0023481,D015467,,10585
86855,Plasmacytoma,Disease,Disorder,2A83.2,0005615,C90.3,,C0032131,D010954,10035484,13446
512260,Congenital cerebellar ataxia due to RNU12 mutation,Disease,Disorder,,0033717,G11.0,620208,C5567894,,,
86854,Splenic marginal zone lymphoma,Disease,Disorder,XH0MV1,0019462,C83.0,,C0349632,,10062113,
86852,B-cell prolymphocytic leukemia,Disease,Disorder,2A82.1,0019461,C91.3,,C0475801,D054403,10073480,8223
86851,Acute leukemia of ambiguous lineage,Category,Group of disorders,2A61,0019460,C95.0,601626,C1301357,,,8638
86850,Myeloid sarcoma,Disease,Disorder,2A60.39,0006861,C92.3,,C4721505,D023981,10008583,12763
86849,Acute basophilic leukemia,Disease,Disorder,2A60.37,0019458,C94.7,,C0023437,D015471,,
86846,Therapy related acute myeloid leukemia and myelodysplastic syndrome,Category,Group of disorders,2A60.20,0019457,,601626,C1292776,,,
86845,Acute myeloid leukaemia with myelodysplasia-related features,Disease,Disorder,2A60.1,0019456,C92.8,601626,C1292773,,,12761
86872,T-cell large granular lymphocyte leukemia,Disease,Disorder,2A90.1,0019469,C91.7,,C1955861,,10065862,9812
86873,Aggressive NK-cell leukemia,Disease,Disorder,2A90.3,0019470,C94.7,,C1292777,,10028811,10493
86870,Blastic plasmacytoid dendritic cell neoplasm,Disease,Disorder,2A60.5,0019467,C86.4,,C1301363,,,10556
86871,T-cell prolymphocytic leukemia,Disease,Disorder,2A90.0,0019468,C91.6,,C2363142,D015461,10042985,13731
86867,Nodal marginal zone B-cell lymphoma,Disease,Disorder,2A85.0,0019465,C83.0,,C0855139,,10029460,
86869,Lymphomatoid granulomatosis,Disease,Disorder,2A81.3,0019466,C83.8,,C0024307,D008230,10025325,6943
86861,Non-amyloid monoclonal immunoglobulin deposition disease,Disease,Disorder,,0019463,D89.8,,C5394673,,,
86864,Heavy chain disease,Disease,Disorder,2A84,0019464,C88.3,,C0018852,D006362,10019350,
86886,Angioimmunoblastic T-cell lymphoma,Disease,Disorder,2A90.9,0004977,C86.5,,C0020981,,10002449,11973
86893,Nodular lymphocyte predominant Hodgkin lymphoma,Disease,Disorder,2B30.0,0044778,C81.0,,C1334968,,10080201,
86884,Subcutaneous panniculitis-like T-cell lymphoma,Disease,Disorder,2B00,0019475,C86.3,618398,C0522624,C537503,,10193
86885,Primary cutaneous peripheral T-cell lymphoma not otherwise specified,Disease,Disorder,2A90.C,0019476,C84.4,,C0079774,D016411,10034623,
86880,Enteropathy-associated T-cell lymphoma,Disease,Disorder,2A90.7,0019473,C86.2,,C0456889,D058527,10073481,9809
86882,Hepatosplenic T-cell lymphoma,Disease,Disorder,2A90.8,0019474,C86.1,,C1333984,,10066957,
86875,Adult T-cell leukemia/lymphoma,Disease,Disorder,2A90.5,0019471,C91.5,,C0023493,D015459,10001413,
86879,Extranodal nasal NK/T cell lymphoma,Disease,Disorder,2A90.6,0019472,C86.0,,C0392788,D054391,10065855,7041
79502,Punctate palmoplantar keratoderma type 2,Disease,Disorder,EC20.32,0008292,Q82.8,175860,C1867982,C536338,,4439
79503,Ichthyosis hystrix of Curth-Macklin,Disease,Disorder,EC20.03,0007808,Q80.8,146590,C1840296,C536088,,2954
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,,
79495,X-linked congenital generalized hypertrichosis,Clinical subtype,Subtype of disorder,LD27.0Y,0010614,Q84.2,307150,C1855900,C538388,,2863
79499,Autosomal dominant deafness-onychodystrophy syndrome,Malformation syndrome,Disorder,LD27.0Y,0007420,Q87.8,124480,C2675730,C567274,,4732
79500,DOORS syndrome,Malformation syndrome,Disorder,LD27.0Y,0009079,Q87.8,220500,C0795934,C563052,10080835,1685
79501,Punctate palmoplantar keratoderma type 1,Disease,Disorder,EC20.32,0019332,Q82.8,614936,C1835662,C536161,,3103
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,,,
79651,Mild hyperphenylalaninemia,Clinical subtype,Subtype of disorder,5C50.0Y,0019335,E70.1,261600,C5680207,,,
79644,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,Disease,Disorder,,0019334,E16.1,601820,C5191078,,,
83317,Scrub typhus,Disease,Disorder,1C30.3,0019365,A75.3,,C0036472,D012612,10039766,
83330,Proximal spinal muscular atrophy type 1,Clinical subtype,Subtype of disorder,8B61.0,0009669,G12.0,253300,C5848259,,,7883
83315,Murine typhus,Disease,Disorder,1C30.2,0000330,A75.2,,C0041472,D014437,10028282,
83316,Pseudotyphus of California,Disease,Disorder,1C30.Y,0019364,A79.8,,C4706680,,,
83419,Proximal spinal muscular atrophy type 3,Clinical subtype,Subtype of disorder,8B61.2,0009672,G12.1,253400,C0152109,,,198
83420,Proximal spinal muscular atrophy type 4,Clinical subtype,Subtype of disorder,8B61.3,0010056,G12.1,271150,C1838230,C563948,,
83418,Proximal spinal muscular atrophy type 2,Clinical subtype,Subtype of disorder,8B61.1,0009673,G12.1,253550,C0393538,,,4945
83313,Boutonneuse fever,Disease,Disorder,1C31.1,0024472,A77.1,,C0006060,D001907,10006045,
83314,Epidemic typhus,Disease,Disorder,1C30.0,19362,A75.0,,C0041473,D014438,10014979,
83311,Rocky Mountain spotted fever,Disease,Disorder,1C31.0,0019359,A77.0,,C0035793,D012373,10039207,7585
83312,Rickettsialpox,Disease,Disorder,1C32,0019360,A79.1,,C0035597,D000073605,10039137,
83469,Desmoplastic small round cell tumor,Disease,Disorder,,0019373,C48.2,,C0281508,D058405,10064581,6265
83468,Solitary bone cyst,Disease,Disorder,FB80.5,0019372,M85.4,,C0005937,,,
83467,Morvan syndrome,Disease,Disorder,8E4A.3,0008718,G60.8,,C3854373,,10075006,9766
83465,Narcolepsy type 2,Disease,Disorder,7A20.1,0019371,G47.4,,C1456240,,,
83476,West-Nile encephalitis,Disease,Disorder,1C80,0019376,A92.3,610379,C0751583,D014901,,9959
83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,Malformation syndrome,Disorder,,0019375,Q04.8,615937,C4302893,,,10341
83472,CAMOS syndrome,Malformation syndrome,Disorder,,0019374,G11.1,606937,C4511633,,,9977
83471,T-cell immunodeficiency with thymic aplasia,Disease,Disorder,,0009451,D81.4,242700,C0152094,C536288,,
83452,Complex regional pain syndrome,Disease,Disorder,MG30.04,0019369,G90.5,604335,C0458219,D020918,10064332,4647
83451,Florid cemento-osseous dysplasia,Disease,Disorder,DA07.3,0019368,D16.5,,C0555197,C537063,,10173
83450,Regional odontodysplasia,Disease,Disorder,DA07.3,0019367,K00.4,,C0206554,,,
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,
83461,Congenital primary aphakia,Malformation syndrome,Disorder,LA12.2,0012456,Q12.3,610256,C1853230,C537786,10002947,9952
83454,Glomuvenous malformation,Malformation syndrome,Disorder,LC51,0007672,Q27.8,138000,C1841984,C536827,,
83453,Vulvovaginal gingival syndrome,Disease,Disorder,EA91.3,0019370,L43.8,,C3873472,,,
514352,Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,Malformation syndrome,Disorder,,0034895,Q87.8,,C5680208,,,
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,,,
83620,Enteric anendocrinosis,Disease,Disorder,DA90.Y,0012479,P78.3,610370,C1835888,C563673,,
83628,LUMBAR syndrome,Malformation syndrome,Disorder,LD2F.1Y,0019388,Q87.8,,C4510867,,10082949,
83601,Steroid-responsive encephalopathy associated with autoimmune thyroiditis,Disease,Disorder,8E4A.0,0019385,G04.8,,C0393639,C535841,10069432,8570
83616,Rubella panencephalitis,Disease,Disorder,1F02.0,,G05.1*,,C0238099,,,
83617,Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,Malformation syndrome,Disorder,4A01.00,0012508,Q87.0,610483,C4302680,,,10011
83594,Eastern equine encephalitis,Disease,Disorder,1C84,0005736,A83.2,,C0153065,D020242,10014587,10821
83595,Colorado tick fever,Disease,Disorder,1D41,0005708,A93.2,,C0009400,D003121,10010022,
83597,Acute disseminated encephalomyelitis,Disease,Disorder,8A42,0019383,G04.0,,C0014059,D004673,10000709,8639
83600,Encephalitis lethargica,Disease,Disorder,1C80,0019384,A85.8,,C0014040,,10052369,6332
83482,Mycoplasma encephalitis,Disease,Disorder,1D00.0,0019377,B96.0,,C4707240,,,
83483,La Crosse encephalitis,Disease,Disorder,1C8D,0019378,A83.5,,C0276379,D004670,10014584,10925
83484,St. Louis encephalitis,Disease,Disorder,1C86,0005969,A83.3,,C0014060,D004674,10041896,
83593,Western equine encephalitis,Disease,Disorder,1C83,0019380,A83.1,,C0153064,D020241,10014614,7888
84085,Hinman syndrome,Disease,Disorder,GC01.Y,0019395,N32.8,,C1997362,,,
84081,Senior-Boichis syndrome,Disease,Disorder,GB8Y,0019394,Q61.8,613550,C4274018,,,
84090,Fibronectin glomerulopathy,Disease,Disorder,MF81,0007671,N07.6,601894,C3888104,C536826,,
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
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,,,
83639,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,Disease,Disorder,3B61.0Y,0012465,E88.8,610293,C4510605,,,9965
83629,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,Disease,Disorder,,0010275,G37.8,300232,C4304743,,,4891
513456,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,Disease,Disorder,,0054636,Q87.0,617616,C4539927,,,
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
85163,Hypomyelination-congenital cataract syndrome,Malformation syndrome,Disorder,,0012514,G37.8,610532,C1864663,C567166,,11980
85164,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,Disease,Disorder,LD2F.1Y,0012504,Q87.2,610474,C1864852,C537975,,10012
85146,"Neurogenic scapuloperoneal syndrome, Kaeser type",Disease,Disorder,,0008407,G12.1,181400,C1867005,C566695,,10312
85162,Facial onset sensory and motor neuronopathy,Disease,Disorder,,0019405,G60.0,,C4509818,,,12036
85138,Addison disease,Disease,Disorder,5A74.0,0100480,E27.1,240200,C0001403,D000224,10001130,5740
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,,
85136,Cystic leukoencephalopathy without megalencephaly,Disease,Disorder,5C55.2,0013058,E75.2,612951,C2751843,C567845,,13199
85110,Familial encephalopathy with neuroserpin inclusion bodies,Disease,Disorder,8A61.41,0011412,G31.8,604218,C1858680,C536841,,10037
85112,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,Disease,Disorder,,0012530,Q56.0,610644,C4302748,,,
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,,,
84142,Isaacs syndrome,Disease,Disorder,8C71.4,0019399,G71.1,,C0242287,D020386,,6793
84093,Hereditary thermosensitive neuropathy,Disease,Disorder,8C20.Y,0011197,G60.0,602107,C1865856,C566575,,
84096,OBSOLETE: Unknown leukodystrophy,Disease,Disorder,,,,,,,,
85186,Endosteal sclerosis-cerebellar hypoplasia syndrome,Malformation syndrome,Disorder,LD2F.1Y,0013722,Q87.8,614381,C3280644,C535353,,1195
85184,"Craniometadiaphyseal dysplasia, wormian bone type",Malformation syndrome,Disorder,LD24.1Y,0010014,Q78.8,269300,C4510809,,,
85182,Diaphyseal medullary stenosis-bone malignancy syndrome,Disease,Disorder,LD24.1Y,0007205,M89.8,112250,C1862177,C536169,,10072
85179,Infantile osteopetrosis with neuroaxonal dysplasia,Malformation syndrome,Disorder,LD24.10,0010866,Q78.2,600329,C4510764,,,10082
85175,Astley-Kendall dysplasia,Malformation syndrome,Disorder,LD24.04,0019408,Q77.3,,C1300228,C535392,,
85174,Pseudodiastrophic dysplasia,Malformation syndrome,Disorder,LD24.E,0009914,Q78.8,264180,C0432206,C535826,,9463
85173,IMAGe syndrome,Malformation syndrome,Disorder,5A74.Y,0013873,Q87.1,618336,C1846009,C564543,,12312
85172,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",Disease,Disorder,LD24.D,0019407,Q78.8,618150,C4509877,,,
85170,"Mesomelic dysplasia, Savarirayan type",Malformation syndrome,Disorder,LD24.A,0011530,Q78.8,605274,C1854470,C565349,,10584
85169,Familial digital arthropathy-brachydactyly,Malformation syndrome,Disorder,LD24.8Y,0011732,M06.8,606835,C1847406,C564656,,
85168,Craniofacial conodysplasia,Malformation syndrome,Disorder,LD24.8Y,0019406,Q87.5,,C4303862,,,
85167,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,Disease,Disorder,LD24.4,0012160,Q77.8,608940,C4304887,,,10647
85166,"Platyspondylic dysplasia, Torrance type",Malformation syndrome,Disorder,LD24.5Y,0007895,Q77.8,151210,C1835437,C563627,,4382
85165,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Disease,Disorder,LD24.0Y,0014658,Q77.4,616482,C2674173,,10082381,9443
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,,,
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,,,
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,,,
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,,,
603684,KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome,Malformation syndrome,Disorder,,0014890,Q87.8,617055,C4310742,,,
98127,Autosomal anomaly syndrome,Category,Group of disorders,,0020049,,,C5681496,,,
603699,Recessive KLHL7-related disorder,Clinical group,Group of disorders,,,,,C5816693,,,
603694,KLHL7-related Crisponi/cold-induced sweating-like syndrome,Disease,Disorder,,35824,Q87.8,,C5680211,,,
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,,,
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,,,
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,,,
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,,,
98099,Autosomal recessive syndromic cerebellar ataxia,Category,Group of disorders,,0020047,,,C5681516,,,
98096,Autosomal recessive metabolic cerebellar ataxia,Category,Group of disorders,,0020044,,,C5681517,,,
98097,Autosomal recessive cerebellar ataxia due to a DNA repair defect,Category,Group of disorders,,,G11.3,,C5681518,,,
98095,Autosomal recessive congenital cerebellar ataxia,Category,Group of disorders,,0020043,,,C5681519,,,
611256,Pontocerebellar hypoplasia type 12,Malformation syndrome,Disorder,LD20.01,0032643,Q04.3,618266,C4748873,,,
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,,,
611247,Pontocerebellar hypoplasia type 11,Malformation syndrome,Disorder,LD20.01,0054669,Q04.3,617695,C4540164,,,
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,,,
98073,OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia,Category,Group of disorders,,,,,,,,
611223,EN1-related dorsoventral syndrome,Malformation syndrome,Disorder,,0036192,Q87.2,619218,C5680225,,,
611201,Oculogastrointestinal-neurodevelopmental syndrome,Malformation syndrome,Disorder,,0036189,Q87.8,619318,C5543355,,,
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,,,
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,,,
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
98249,Ehlers-Danlos syndrome,Clinical group,Group of disorders,LD28.1,0020066,Q79.6,,C0013720,D004535,10014316,6322
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,,,
600663,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,Malformation syndrome,Disorder,,0035774,G96.8,614325,C5681528,,,
600691,Combined deficiency of factor VII and factor X,Disease,Disorder,3B14.2,0035776,D68.2,,C5681529,,,
600731,Clark-Baraitser syndrome,Malformation syndrome,Disorder,,0030914,Q87.8,617752,C2931130,C536208,,9994
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
98292,Mastocytosis,Category,Group of disorders,2A21,0007950,,154800,C0024899,D008415,10026891,6987
98291,Lymphoproliferative disease associated with primary immune disease,Category,Group of disorders,,,,,C5681532,,,
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
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,,,
98196,Malformation syndrome with hamartosis,Category,Group of disorders,,,,,C5680230,,,
601028,Non-syndromic rectovaginal fistula,Morphological anomaly,Disorder,LB17.0,0035792,Q42.2,,C5680231,,,
601033,Non-syndromic H-type fistula,Morphological anomaly,Disorder,LB17.0,0035793,Q42.2,,C5680232,,,
601008,Non-syndromic anal stenosis,Morphological anomaly,Disorder,LB17.0,0035788,Q42.3,,C5680233,,,
601013,Non-syndromic pouch colon,Morphological anomaly,Disorder,LB17.0,0035789,Q42.1,,C5680234,,,
601018,Non-syndromic rectal atresia,Morphological anomaly,Disorder,LB17.0,0035790,Q42.0,,C5680235,,,
601023,Non-syndromic rectal stenosis,Morphological anomaly,Disorder,LB17.0,0035791,Q42.0,,C5680236,,,
600984,Non-syndromic rectovesical fistula,Morphological anomaly,Disorder,LB17.0,0035784,Q42.2,,C5680237,,,
600993,Non-syndromic vestibular fistula,Morphological anomaly,Disorder,LB17.0,0035785,Q42.2,,C5680238,,,
600998,Non-syndromic cloacal malformation,Morphological anomaly,Disorder,,0035786,Q43.7,,C5681533,,,
601002,Non-syndromic anorectal malformation without fistula,Morphological anomaly,Disorder,LB17.0,0035787,Q42.3,,C5680239,,,
600961,Non-syndromic rectourethral fistula,Morphological anomaly,Disorder,LB17.0,0035781,Q42.2,,C5680240,,,
600952,Non-syndromic perineal fistula,Morphological anomaly,Disorder,LB17.0,0035780,Q42.2,,C5680241,,,
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
97242,Congenital muscular dystrophy,Category,Group of disorders,8C70.6,0019950,,,C0699743,,,9138
97261,GRFoma,Disease,Disorder,2C10.1,0019955,C25.9,,C0346406,,,
97253,Neuroendocrine tumor of pancreas,Category,Group of disorders,,0019954,,,C4305467,,10067517,13034
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
97279,Insulinoma,Disease,Disorder,2C10.1,5048,D13.7,,C0021670,D007340,10022498,3010
97278,PPoma,Disease,Disorder,2C10.1,0019957,E16.8,,C0346407,,,
97275,Encephalitis,Category,Group of disorders,,0019956,,,C0014038,D004660,10014581,
97285,Thyroid lymphoma,Disease,Disorder,2B33.5,0019962,C85.7,,C1336753,,,
97283,Somatostatinoma,Disease,Disorder,2C10.1,0006976,E16.8,,C0037661,D013005,10041329,4900
97282,VIPoma,Disease,Disorder,2C10.1,0019960,E16.8,,C0011993,D003969,10047430,3787
97280,Glucagonoma,Disease,Disorder,2C10.1,0019959,E16.8,,C0017689,D005935,10018404,2496
97289,Thymic neuroendocrine tumor,Disease,Disorder,2C27.1,0019964,C37,,C1336746,,,
97290,Familial papillary thyroid carcinoma with renal papillary neoplasia,Disease,Disorder,2C90.Y,0011578,C73,605642,C4274358,,,
97286,Carney-Stratakis syndrome,Disease,Disorder,2F7A.0,0011740,D44.8,606864,C1847319,C564650,,10643
97287,Bronchial neuroendocrine tumor,Disease,Disorder,2C25.Y,19963,D38.1,,C1334452,,,
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,
97332,Kienbock disease,Disease,Disorder,FB81.0,0019967,M93.1,,C0022682,,10064242,9690
97335,Osgood-Schlatter disease,Disease,Disorder,FB82.1,0004241,M93.2,,C0029376,,10031130,
97297,Bohring-Opitz syndrome,Malformation syndrome,Disorder,,0011510,Q87.8,605039,C0796232,C537419,,10140
97330,Thoracic outlet syndrome,Disease,Disorder,8B91.Y,0005979,G54.0,,C0039984,D013901,10048627,7759
97338,Melanoma of soft tissue,Disease,Disorder,,0019971,C43.7,,C0206651,,,
97339,Dural sinus malformation with arteriovenous shunt,Morphological anomaly,Disorder,LA90.2Y,0019972,Q28.3,,C3839148,,,
97336,Panner disease,Disease,Disorder,FB82.1,0019969,M92.0,,C4759831,,,
97337,Sinding-Larsen-Johansson disease,Disease,Disorder,FB82.1,0019970,M92.4,,C1504517,,10063585,
97341,Persistent placoid maculopathy,Disease,Disorder,9B78.3Y,0019973,H35.3,,C4304823,,,
97340,Hunter-McAlpine syndrome,Malformation syndrome,Disorder,LD24.GY,0011065,Q87.0,601379,C1832408,C536072,,2754
97342,OBSOLETE: Argyrophilic grain disease,Disease,Disorder,,,,,,,,
97346,ADan amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0007297,I68.0*,117300,C1861735,C538209,,9169
97345,ABri amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0008306,I68.0*,176500,C5190835,C538208,,8344
97349,Postencephalitic parkinsonism,Disease,Disorder,8A00.22,0001945,G21.3,,C0030568,D010301,,19370
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,
97360,Robinow syndrome,Malformation syndrome,Disorder,LD24.A,0019978,Q87.1,616331,C0265205,C562492,10084325,312
97355,Caribbean parkinsonism,Disease,Disorder,8A00.1Y,0019977,G20+,,C4275027,,,
97361,"Renal hypoplasia, unilateral",Clinical subtype,Subtype of disorder,LB30.0Y,0019979,Q60.3,,C0431691,,,
97362,"Renal hypoplasia, bilateral",Clinical subtype,Subtype of disorder,LB30.0Y,0019980,Q60.4,,C0431692,,,
97363,Unilateral multicystic dysplastic kidney,Clinical subtype,Subtype of disorder,LB30.9,0019981,Q61.4,,C1567426,,,
97364,Bilateral multicystic dysplastic kidney,Clinical subtype,Subtype of disorder,LB30.9,0019982,Q61.4,,C1840451,C537373,,9517
97365,NON RARE IN EUROPE: Solitary renal cyst,Malformation syndrome,Disorder,,,,,,,,
97366,Multiloculated renal cyst,Morphological anomaly,Disorder,,0019983,D30.0,,C0431719,,,
97367,Renal tubular dysgenesis due to twin-twin transfusion,Etiological subtype,Subtype of disorder,LB30.3,0019984,Q63.8,,C5438872,,,
97368,Drug-related renal tubular dysgenesis,Etiological subtype,Subtype of disorder,LB30.3,0019985,Q63.8,,C5438798,,,
97369,Renal tubular dysgenesis of genetic origin,Etiological subtype,Subtype of disorder,LB30.3,0009970,Q63.8,267430,C5681536,,,
97548,Right isomerism,Malformation syndrome,Disorder,LA8Y,0008832,Q20.6,208530,C3178806,,10068335,6795
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
96183,Maternal uniparental disomy of chromosome 9 syndrome,Malformation syndrome,Disorder,LD45.0,0019914,Q99.8,,C4707721,,,
96182,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,Etiological subtype,Subtype of disorder,LD2F.1Y,0019913,Q87.1,,C5680247,,,
96181,Maternal uniparental disomy of chromosome 6 syndrome,Malformation syndrome,Disorder,LD45.0,0019912,Q99.8,,C4707720,,,
96180,Maternal uniparental disomy of chromosome 4 syndrome,Malformation syndrome,Disorder,LD45.0,0019911,Q99.8,,C4707719,,,
96179,Maternal uniparental disomy of chromosome 2 syndrome,Malformation syndrome,Disorder,LD45.0,0019910,Q99.8,,C4707718,,,
96178,Ring chromosome 16 syndrome,Malformation syndrome,Disorder,LD7Y,0019909,Q93.2,,C4706449,,,10855
96177,Ring chromosome 15 syndrome,Malformation syndrome,Disorder,LD7Y,0019908,Q93.2,,C0795855,C538035,,1328
96176,Ring chromosome 13 syndrome,Malformation syndrome,Disorder,LD7Y,0019907,Q93.2,,C0795847,C538303,,6069
96191,Paternal uniparental disomy of chromosome 6 syndrome,Malformation syndrome,Disorder,LD45.1,0019921,Q99.8,,C4749378,,,
96190,Paternal uniparental disomy of chromosome 5 syndrome,Malformation syndrome,Disorder,LD45.1,0019920,Q99.8,,C4749377,,,
96188,Maternal uniparental disomy of chromosome 22 syndrome,Malformation syndrome,Disorder,LD45.0,0019919,Q99.8,,C5190524,,,
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,,,
96185,Maternal uniparental disomy of chromosome 16 syndrome,Malformation syndrome,Disorder,LD45.0,0019916,Q99.8,,C4750769,,,
96184,Temple syndrome due to maternal uniparental disomy of chromosome 14,Etiological subtype,Subtype of disorder,LD2Y,0019915,Q99.8,616222,C5680248,,,
96194,Paternal uniparental disomy of chromosome 20 syndrome,Malformation syndrome,Disorder,LD45.1,0019924,Q99.8,,C4275028,,,
96195,Paternal uniparental disomy of chromosome 21 syndrome,Malformation syndrome,Disorder,LD45.1,0019925,Q99.8,,C4707801,,,
96192,Paternal uniparental disomy of chromosome 7 syndrome,Malformation syndrome,Disorder,LD45.1,0019922,Q99.8,,C4707802,,,
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
96201,X small rings syndrome,Malformation syndrome,Disorder,LD51,0019926,Q99.8,,C4707824,,,
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
96263,"48,XXXY syndrome",Malformation syndrome,Disorder,,0019928,Q98.1,,C0265498,,10048228,5676
96266,Leydig cell hypoplasia due to partial LH resistance,Clinical subtype,Subtype of disorder,LD2A.3,0019931,Q56.1,238320,C5438975,,,
96265,Leydig cell hypoplasia due to complete LH resistance,Clinical subtype,Subtype of disorder,LD2A.3,0019930,Q56.1,238320,C5438974,,,
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
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
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
97238,Rippling muscle disease,Disease,Disorder,8C71.Y,,G71.8,606072,C1853698,,10069417,9164
97239,Reducing body myopathy,Disease,Disorder,8C72.Y,0019948,G71.2,300718,C0270970,,,12162
97240,Zebra body myopathy,Disease,Disorder,8C72.0Y,0019949,G71.2,,C0270969,,,
97229,Riboflavin transporter deficiency,Malformation syndrome,Disorder,LD2H.Y,0008891,G12.2,614707,C4551777,C537111,10084089,9993
97230,Solar urticaria,Disease,Disorder,EB01.Y,0019945,L56.3,,C0263610,D000092130,10041307,
97231,Ligneous conjunctivitis,Disease,Disorder,,,,,C1274789,,10071570,6187
97232,Fingerprint body myopathy,Disease,Disorder,8C72.Y,0010591,G71.2,305550,C1844560,C564425,,12720
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,,,
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,,,
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,,,
97593,Pseudohypoparathyroidism,Category,Group of disorders,5A50.1,0019992,E20.1,,C0033806,D011547,10037126,10758
97567,Immunotactoid glomerulopathy,Disease,Disorder,5D00.Y,0019991,N03.6,,C2242534,,10067871,12048
97569,OBSOLETE: Unclassified glomerulonephritis,Category,Group of disorders,,,,,,,,
97564,Pauci-immune glomerulonephritis without ANCA,Clinical subtype,Subtype of disorder,MF84,0019989,N05.7,,C5680253,,,
97566,Non-amyloid fibrillary glomerulopathy,Disease,Disorder,GB4Y,0019990,N03.6,,C4273674,,,12740
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,,,
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
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,,,
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,,,
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
95715,Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies,Disease,Disorder,KB62.0,0019857,P72.2,,C4273914,,,
95716,Familial thyroid dyshormonogenesis,Disease,Disorder,5A00.00,0010132,E03.1,607200,C4273748,,,
95713,Athyreosis,Morphological anomaly,Disorder,5A00.01,0019855,E03.1,225250,C4305275,,,
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,,,
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,,,
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,
95700,Familial adrenal hypoplasia with absent pituitary luteinizing hormone,Disease,Disorder,5A74.Y,0008731,E27.1,202150,C5190711,,,
95699,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,Disease,Disorder,5A71.01,0013310,E25.0,613571,C1860042,,,12664
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,,,
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,,
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,,,
95513,Panhypophysitis,Disease,Disorder,5A61.0,0019839,E23.6,,C5190786,,,
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
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
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
95434,Autosomal recessive cerebellar ataxia-movement disorder syndrome,Disease,Disorder,8A03.1Y,0011811,G11.1,607317,C1846492,C537310,,4952
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,,,
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,
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,,
95232,Lissencephaly due to LIS1 mutation,Disease,Disorder,LD20.1,0011830,Q04.3,607432,C4749301,,,
95161,OBSOLETE: Chronic hepatic porphyria,Clinical group,Group of disorders,,,,,,,,
95159,Hepatoerythropoietic porphyria,Disease,Disorder,5C58.1Y,0019799,E80.2,176100,C0162569,D017121,,6169
95428,COG8-CDG,Disease,Disorder,5C54.2,0012635,E77.8,611182,C1970021,C566987,,12411
95427,Secondary short bowel syndrome,Disease,Disorder,DA96.04,0019802,K91.2,,C5681579,,,
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,
95432,Primary progressive aphasia,Clinical group,Group of disorders,6D83,0019806,,,C0282513,D018888,10081268,8541
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
95429,Angioma serpiginosum,Disease,Disorder,LC50.Y,0019803,L81.7,300652,C0263637,,10086217,
94091,Mills syndrome,Disease,Disorder,8B60.Y,0035892,G12.2,,C5191669,,,
94093,Neuroleptic malignant syndrome,Disease,Disorder,8A0Y,0019790,G21.0,,C0027849,D009459,10029282,7195
94095,OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome,Malformation syndrome,Disorder,,,,,,,,
94122,"Cerebellar ataxia, Cayman type",Disease,Disorder,,0011025,G11.0,601238,C1832585,,,
94124,Spinocerebellar ataxia with axonal neuropathy type 1,Disease,Disorder,,0011801,G60.2,607250,C4759870,,,10000
94125,Recessive mitochondrial ataxia syndrome,Disease,Disorder,5C53.21,0019791,G11.8,,C4760799,,,
94145,Autosomal dominant cerebellar ataxia type I,Clinical group,Group of disorders,,0019792,,,C5680259,,,
94147,Spinocerebellar ataxia type 7,Disease,Disorder,8A03.16,0016163,G11.8,164500,C0752125,,,4955
94148,Autosomal dominant cerebellar ataxia type III,Clinical group,Group of disorders,,0019793,,,C5680260,,,
94149,Autosomal dominant cerebellar ataxia type IV,Clinical group,Group of disorders,,0019794,,,C5680261,,,
94150,Anonychia congenita totalis,Clinical subtype,Subtype of disorder,EC22.0,0008798,Q84.3,206800,C3277900,,,
94064,Deafness-infertility syndrome,Malformation syndrome,Disorder,LD2H.Y,0012621,Q93.5,611102,C1970187,C567010,,11911
94063,12q14 microdeletion syndrome,Malformation syndrome,Disorder,LD2F.1Y,0019784,Q93.5,166700,C4305140,,,13390
94066,Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,Malformation syndrome,Disorder,,0019786,Q87.8,,C4510007,,,
94065,15q24 microdeletion syndrome,Etiological subtype,Subtype of disorder,LD44.F,0013256,Q93.5,613406,C3697269,C579849,,12219
94068,Spondyloepiphyseal dysplasia congenita,Disease,Disorder,LD24.3,0008471,Q77.7,183900,C2745959,C535788,10062920,4987
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
94080,Non-functioning paraganglioma,Disease,Disorder,2F9A,0019788,D44.7,,C4707263,,,
94086,Blue diaper syndrome,Disease,Disorder,5C60.Y,0008877,E70.8,211000,C0268478,C536239,,5939
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
94087,Cytophagic histiocytic panniculitis,Disease,Disorder,EE8Y,0019789,M35.8,,C0406594,,10081137,
94090,Pseudohypoparathyroidism type 2,Disease,Disorder,5A50.1,0008749,E20.1,203330,C2932717,C548077,,10682
94089,Pseudohypoparathyroidism type 1B,Disease,Disorder,5A50.1,0011301,E20.1,603233,C1864100,C548075,,10680
96175,Ring chromosome 11 syndrome,Malformation syndrome,Disorder,LD7Y,0019906,Q93.2,,C0265444,,,10846
96173,Ring chromosome 9 syndrome,Malformation syndrome,Disorder,LD7Y,0019905,Q93.2,,C0265430,C538022,,1348
96172,Ring chromosome 3 syndrome,Malformation syndrome,Disorder,LD7Y,0019904,Q93.2,,C4707449,,,10839
96171,Ring chromosome 2 syndrome,Malformation syndrome,Disorder,LD7Y,0019903,Q93.2,,C4707448,,,10837
96170,Emanuel syndrome,Malformation syndrome,Disorder,LD41.Q,0012176,Q92.6,609029,C1836929,C535733,10079203,9835
96169,Koolen-De Vries syndrome,Malformation syndrome,Disorder,LD24.GY,0012496,Q87.8,610443,,,,10727
96168,Monosomy 13q34 syndrome,Malformation syndrome,Disorder,LD44.D,0019902,Q93.5,619148,C4707797,,,
96167,Recombinant 8 syndrome,Malformation syndrome,Disorder,LD41.P,0008365,Q99.8,179613,C0795822,C535296,,9698
96164,OBSOLETE: Non-distal monosomy 20q,Malformation syndrome,Disorder,,,,,,,,
96160,Non-distal deletion 12q syndrome,Malformation syndrome,Disorder,,0019900,Q93.5,,C5190525,,,
96152,OBSOLETE: Distal monosomy 20q,Malformation syndrome,Disorder,,,,,,,,
96150,Distal deletion 14q syndrome,Malformation syndrome,Disorder,,0019898,Q93.5,,C4749276,,,
96148,Distal deletion 10q syndrome,Malformation syndrome,Disorder,LD44.A0,0012315,Q93.5,609625,C4305277,,,3711
96149,Distal deletion 12q syndrome,Malformation syndrome,Disorder,LD44.C0,0019897,Q93.5,,C5438460,,,
96147,Kleefstra syndrome due to 9q34 microdeletion,Etiological subtype,Subtype of disorder,LD2F.1Y,0019896,Q87.8,610253,C0795833,,,
96145,Distal deletion 4q syndrome,Malformation syndrome,Disorder,LD44.40,0019895,Q93.5,,C5190514,,,
96136,OBSOLETE: Non-distal monosomy 7p,Malformation syndrome,Disorder,,,,,,,,
96129,Distal deletion 19p syndrome,Malformation syndrome,Disorder,LD44.K1,0019893,Q93.5,,C4749277,,,
96125,Distal deletion 6p syndrome,Malformation syndrome,Disorder,LD44.61,0012948,Q93.5,612582,C4305276,,,
96126,Distal deletion 7p syndrome,Malformation syndrome,Disorder,LD44.71,0019892,Q93.5,,C5190515,,,
96121,7q11.23 microduplication syndrome,Malformation syndrome,Disorder,LD41.60,0012342,Q92.3,609757,C4512054,,,12076
96123,Monosomy 22 syndrome,Malformation syndrome,Disorder,,0019891,Q93.0,,C0795878,,,
96112,Non-distal duplication 9q syndrome,Malformation syndrome,Disorder,LD41.80,0019890,Q92.3,,C4707261,,,
96107,Distal duplication 20q syndrome,Malformation syndrome,Disorder,LD41.K0,0019888,Q92.3,,C4706935,,,
96106,Distal duplication 16q syndrome,Malformation syndrome,Disorder,LD41.F0,0019887,Q92.3,,C4706934,,,
96105,Distal duplication 13q syndrome,Malformation syndrome,Disorder,LD41.C,0019886,Q92.3,,C4706933,,,
96109,Distal duplication 22q syndrome,Malformation syndrome,Disorder,LD41.M,0019889,Q92.3,,C4706936,,,
96098,Distal duplication 6q syndrome,Malformation syndrome,Disorder,LD41.50,0019881,Q92.3,,C0795817,C537810,,
96097,Distal duplication 5q syndrome,Malformation syndrome,Disorder,LD41.40,0019880,Q92.3,,C4706363,,,
96096,Distal duplication 4q syndrome,Malformation syndrome,Disorder,LD41.30,0019879,Q92.3,,C4706362,,,
96103,Distal duplication 11q syndrome,Malformation syndrome,Disorder,,0019885,Q92.3,,C2931797,C538294,,
96102,Distal duplication 10q syndrome,Malformation syndrome,Disorder,LD41.90,0019884,Q92.3,,C2931728,C538087,,
96101,Distal duplication 9q syndrome,Malformation syndrome,Disorder,LD41.80,0019883,Q92.3,,C4706939,,,
96100,Distal duplication 8q syndrome,Malformation syndrome,Disorder,LD41.70,0019882,Q92.3,,C4706365,,,
96094,Distal duplication 2q syndrome,Malformation syndrome,Disorder,,0019877,Q92.3,,C4706361,,,
96095,3q26 microduplication syndrome,Malformation syndrome,Disorder,LD41.20,0019878,Q92.3,,C4755319,,,
96092,8p inverted duplication/deletion syndrome,Malformation syndrome,Disorder,LD41.P,0019876,Q99.8,,C4273676,,,
96072,4p16.3 microduplication syndrome,Malformation syndrome,Disorder,LD41.31,0019873,Q92.3,,C4512053,,,
96074,Distal duplication 7p syndrome,Malformation syndrome,Disorder,LD41.61,0019874,Q92.3,,C4706364,,,
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
96069,Distal duplication 1p36 syndrome,Malformation syndrome,Disorder,LD41.01,0019870,Q92.3,,C4707665,,,
96068,Mosaic trisomy 22 syndrome,Malformation syndrome,Disorder,LD40.Y,0019869,Q92.1,,C2931327,C536796,,6085
96071,Distal duplication 3p syndrome,Malformation syndrome,Disorder,LD41.21,0019872,Q92.3,,C4706938,,,
96070,Distal duplication 2p syndrome,Malformation syndrome,Disorder,LD41.11,0019871,Q92.3,,C4706937,,,
96059,Mosaic trisomy 4 syndrome,Malformation syndrome,Disorder,LD40.Y,0019865,Q92.1,,C4272018,,,
96060,Mosaic trisomy 5 syndrome,Malformation syndrome,Disorder,LD40.Y,0019866,Q92.1,,C2931603,,,
96061,Mosaic trisomy 8 syndrome,Malformation syndrome,Disorder,LD40.Y,0019867,Q92.1,,C1096527,C537940,10053916,5359
96063,Mosaic trisomy 10 syndrome,Malformation syndrome,Disorder,LD40.Y,0019868,Q92.1,,C2931794,,,
95717,Idiopathic congenital hypothyroidism,Disease,Disorder,5A00.0Y,0019858,E03.1,,C4273913,,,
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,
95720,Thyroid hypoplasia,Morphological anomaly,Disorder,5A00.01,0019861,E03.1,225250,C0151516,,10065938,8426
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
597623,IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,Disease,Disorder,,0060759,G93.8,618088,C5681583,,,
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,,,
597738,Luscan-Lumish syndrome,Malformation syndrome,Disorder,LD2C,0014791,Q87.3,616831,C4085873,,,
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,,,
93555,Mixed cryoglobulinemia type III,Etiological subtype,Subtype of disorder,4A44.90,0019727,D89.1,,C5680263,,,
93554,Mixed cryoglobulinemia type II,Etiological subtype,Subtype of disorder,4A44.90,0019726,D89.1,,C5680264,,,
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,,,
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,,,
93551,OBSOLETE: Secondary glomerular disease,Category,Group of disorders,,,,,,,,
597746,Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,Malformation syndrome,Disorder,,0035707,Q87.8,,C5681588,,,
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,,,
597874,MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,Disease,Disorder,,0032705,E88.8,618367,C5193057,,,
93562,AFib amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0019733,E85.0,105200,C5680267,,,
598216,Upper tract urothelial carcinoma,Disease,Disorder,,0020659,C66,,C0220648,,10044407,9376
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,,,
598363,Multisystem inflammatory syndrome in children and adults,Disease,Disorder,RA03,0035375,U10.9,,C5680268,,,
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,,,
93560,AApoAI amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0019731,E85.0,105200,C5680269,,,
93561,ALys amyloidosis,Clinical subtype,Subtype of disorder,5D00.2Y,0019732,E85.0,105200,C5680270,,,
93571,Dense deposit disease,Histopathological subtype,Subtype of disorder,GB40,0019736,N03.6,609814,C0268743,,,8555
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
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,,,
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
93476,Hurler-Scheie syndrome,Clinical subtype,Subtype of disorder,5C56.30,0011759,E76.0,607015,C0086431,,10056916,12560
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
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,,,
93398,Genochondromatosis type 2,Disease,Disorder,LD24.2Y,0019680,Q78.4,137360,C4511481,,,
93400,Congenital sialidosis type 2,Clinical subtype,Subtype of disorder,5C56.21,0019682,E77.1,256550,C5681599,,,
599373,STXBP1-related encephalopathy,Disease,Disorder,,0012812,G93.8,612164,C5681600,,,
93403,Syndactyly type 2,Morphological anomaly,Disorder,LB79.Y,0021651,Q70.2,610234,C2699746,C538153,,5087
599376,Hypomyelination of early myelinating structures,Disease,Disorder,,0035398,G37.8,,C5680278,,,
93402,Syndactyly type 1,Morphological anomaly,Disorder,LB79.Y,0008512,Q70.1,185900,C1861380,C566096,,5081
93405,Syndactyly type 4,Morphological anomaly,Disorder,LB79.Y,0008515,Q70.4,186200,C1861355,C566092,,4434
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,,,
93404,Syndactyly type 3,Morphological anomaly,Disorder,LB79.Y,0008514,Q70.1,186100,C1861366,C538154,,5088
599480,Acquired hemophilia A,Disease,Disorder,3B22,0035735,D68.4,,C0272325,C536392,10082745,6405
599485,Acquired hemophilia B,Disease,Disorder,3B22,0035736,D68.4,,C0398609,,10082747,
93406,Syndactyly type 5,Morphological anomaly,Disorder,LB79.Y,0008516,Q70.2,186300,C1861348,C538155,,5089
599490,Acquired factor V deficiency,Disease,Disorder,3B2Y,0035737,D68.4,,C4329256,,10086006,
93409,"Brachydactyly-syndactyly, Zhao type",Malformation syndrome,Disorder,LD26.2,,Q73.8,610713,C4303990,,,
599495,Acquired factor VII deficiency,Disease,Disorder,3B2Y,0035738,D68.4,,C4331989,,,
599501,Acquired factor X deficiency,Disease,Disorder,3B2Y,0021134,D68.4,,C0272328,,,
93419,Rare bone disease,Category,Group of disorders,,,,,C5681602,,,
599507,Acquired factor XI deficiency,Disease,Disorder,3B2Y,0035740,D68.4,,C4329257,,10082746,
599513,Acquired factor XIII deficiency,Disease,Disorder,3B22,0021133,D68.4,,C0238120,,,
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,,,
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,,,
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
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
93357,SPONASTRIME dysplasia,Disease,Disorder,LD24.3,0010068,Q77.7,271510,C1300260,C535786,,4970
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,,,
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
93382,Brachydactyly type A6,Malformation syndrome,Disorder,LD26.1,0007219,Q73.8,112910,C1862130,C537092,,983
93383,Brachydactyly type B,Malformation syndrome,Disorder,LD26.1,0019676,Q73.8,113000,C1300267,,,985
93387,Brachydactyly type E,Malformation syndrome,Disorder,LD26.1,0019677,Q73.8,613382,C4315392,C566194,,987
93388,Brachydactyly type A1,Malformation syndrome,Disorder,LD26.1,0007215,Q73.8,616849,C1862151,C537088,,978
93384,Brachydactyly type C,Malformation syndrome,Disorder,LD26.1,0007221,Q73.8,113100,C1862103,C537093,,986
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
93397,Brachydactyly type A7,Malformation syndrome,Disorder,LD26.1,0019679,Q73.8,,C4303991,,,984
93394,Brachydactyly type A4,Malformation syndrome,Disorder,LD26.1,0007218,Q73.8,112800,C1862139,C537097,,990
93395,Ballard syndrome,Malformation syndrome,Disorder,,,,112440,C1862163,,,
595356,Localized dystrophic epidermolysis bullosa,Disease,Disorder,,0035349,Q81.2,131850,C0474885,,,
93968,Meningocele,Disease,Disorder,,,,,,D008588,10027266,3471
93969,Open spinal dysraphism with a myelomeningocele,Morphological anomaly,Disorder,LA02.1,0019773,Q05.6,,C5781264,,,3475
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
595346,Epidermolysis bullosa simplex without extracutaneous involvement,Category,Group of disorders,,,,,C5680282,,,
93958,Oromandibular dystonia,Disease,Disorder,8A02.0Y,0019771,G24.4,,C2242577,,10067954,
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,
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,
94056,Isolated humero-ulnar synostosis,Morphological anomaly,Disorder,LB90.2,0019782,Q74.0,,C5925053,,,
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,
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
93930,Classic bladder exstrophy,Clinical subtype,Subtype of disorder,LB31.3,0010805,Q64.1,600057,C0005689,D001746,,6398
93928,Isolated epispadias,Clinical subtype,Subtype of disorder,LB55,0019759,Q64.0,,C0014588,D004842,10015088,
93929,Cloacal exstrophy,Clinical subtype,Subtype of disorder,LB17.3,0009774,Q64.1,258040,C1850321,C537748,10067424,4080
93926,Midline interhemispheric variant of holoprosencephaly,Clinical subtype,Subtype of disorder,LA05.2,,Q04.2,609637,C5396362,,,
93924,Lobar holoprosencephaly,Clinical subtype,Subtype of disorder,LA05.2,0019756,Q04.2,609637,C0431362,,,
93925,Alobar holoprosencephaly,Clinical subtype,Subtype of disorder,LA05.2,0019757,Q04.2,301043,C0431363,,,
93921,Full schwannomatosis,Disease,Disorder,LD2D.1Y,0008075,Q85.0,615670,C5779880,C536641,,
93953,Familial thyroglossal duct cyst,Morphological anomaly,Disorder,DA05.Y,0008565,Q89.2,188455,C3495590,C536909,,5204
93952,"X-linked intellectual disability, Hedera type",Disease,Disorder,LD90,0010319,G25.8,300423,C1845543,C564516,,
595109,Atypical Timothy syndrome,Clinical subtype,Subtype of disorder,BC65.0,0021172,I49.8,,C5575746,,,
93951,OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome,Disease,Disorder,,,,,,,,
595133,Perivascular epithelioid cell neoplasm,Disease,Disorder,,0006359,D21.9,,C1300127,D054973,10085067,
93950,"X-linked intellectual disability, Sutherland-Haan type",Clinical subtype,Subtype of disorder,LD90.Y,0019769,Q87.5,309500,C5681613,,,
595098,Timothy syndrome type 1,Clinical subtype,Subtype of disorder,BC65.0,0035678,I49.8,,C5574939,,,
93947,"X-linked intellectual disability, Golabi-Ito-Hall type",Clinical subtype,Subtype of disorder,LD90.Y,0019768,Q87.8,309500,C5681614,,,
595105,Timothy syndrome type 2,Clinical subtype,Subtype of disorder,BC65.0,0035679,I49.8,,C4304347,,,
93946,Hamel cerebro-palato-cardiac syndrome,Clinical subtype,Subtype of disorder,LD90.Y,0019767,Q87.8,309500,C5681615,,,
93945,"X-linked intellectual disability, Porteous type",Clinical subtype,Subtype of disorder,LD90.Y,0019766,Q87.8,309500,C5681616,,,
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,,,
93940,Laryngotracheoesophageal cleft type 3,Clinical subtype,Subtype of disorder,LA72,0019763,Q32.1,215800,C0584825,,,
93939,Laryngotracheoesophageal cleft type 2,Clinical subtype,Subtype of disorder,LA72,0019762,Q32.1,,C0584824,,,
93938,Laryngotracheoesophageal cleft type 1,Clinical subtype,Subtype of disorder,LA72,0019761,Q32.1,,C0584823,,,
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,
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,,
93623,Dent disease type 2,Clinical subtype,Subtype of disorder,GB90.42,0010359,N25.8,300555,C1845167,C564487,,
93682,OBSOLETE: Pediatric Castleman disease,Clinical subtype,Subtype of disorder,,,,,,,,
93672,Juvenile dermatomyositis,Disease,Disorder,4A41.01,0008054,M33.0,,C0263666,,10008521,6805
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
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,,,
93592,Juvenile nephronophthisis,Clinical subtype,Subtype of disorder,GB83,0009728,Q61.5,256100,C1855681,C537699,,
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,,,
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
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,,,
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
93585,Immune-mediated thrombotic thrombocytopenic purpura,Clinical subtype,Subtype of disorder,3B64.14,0019740,M31.1,,C2584778,C536901,,4607
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
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,,,
93608,Autosomal dominant distal renal tubular acidosis,Clinical subtype,Subtype of disorder,GB90.44,0008368,N25.8,179800,,,,4668
93607,Autosomal recessive proximal renal tubular acidosis,Clinical subtype,Subtype of disorder,GB90.44,0011422,N25.8,604278,C1970309,C567038,,
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,,,
596937,Portosinusoidal vascular disease,Disease,Disorder,DB98.Y,0035357,K76.8,,C5680289,,,
93612,Cystinuria type A,Etiological subtype,Subtype of disorder,5C60.2,0019745,E72.0,220100,C1857388,C565652,,
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
93601,Xanthinuria type I,Etiological subtype,Subtype of disorder,5C55.00,0010209,E79.8,278300,C0268118,C562584,,5621
596448,IgG4-related systemic disease,Disease,Disorder,4A43.0,17287,M35.8,,C4087124,,10077271,
93600,Primary hyperoxaluria type 3,Clinical subtype,Subtype of disorder,5C51.2Y,0013327,E74.8,613616,C3150878,,,10738
93599,Primary hyperoxaluria type 2,Clinical subtype,Subtype of disorder,5C51.2Y,0009824,E74.8,260000,C0268165,C536415,,2836
93606,Nephrogenic syndrome of inappropriate antidiuresis,Disease,Disorder,5A60.20,0010356,E22.2,300539,C1845202,C564491,,10306
596753,VEXAS syndrome,Disease,Disorder,4A60.Y,0026777,M35.8,301054,C5435753,C000721467,10085860,
93605,Bartter syndrome type 3,Clinical subtype,Subtype of disorder,GB90.43,0011822,E26.8,607364,C1846343,C537653,,9659
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,,,
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,
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,,,
99067,Complete atrioventricular septal defect with ventricular hypoplasia,Clinical subtype,Subtype of disorder,,0020407,Q21.2,615779,C5680290,,,
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,
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,,,
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,,,
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
99105,"Atrial septal defect, sinus venosus type",Clinical subtype,Subtype of disorder,LA8E.2,0020436,Q21.1,,C0344730,C548009,,10696
99104,"Atrial septal defect, coronary sinus type",Clinical subtype,Subtype of disorder,LA8E.3,0020435,Q21.1,,C0344733,,,10697
99103,"Atrial septal defect, ostium secundum type",Clinical subtype,Subtype of disorder,LA8E.1,0020434,Q21.1,611363,C0344724,,10031303,5865
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,,,
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
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,,,
592873,Acute transverse myelitis with anti-MOG antibodies,Clinical subtype,Subtype of disorder,,0035666,G37.3,,C5680298,,,
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,,,
99130,Congenital partial agenesis of pericardium,Morphological anomaly,Disorder,LA8D,0020455,Q24.8,,C0345139,,,
99129,Congenital complete agenesis of pericardium,Morphological anomaly,Disorder,LA8D,0020454,Q24.8,,C0345140,,,
99131,Pleuro-pericardial cyst,Morphological anomaly,Disorder,LA8D,0020456,Q24.8,,C0345141,,,
99134,OBSOLETE: Intermediate stomatocytosis syndrome,Disease,Disorder,,,,,,,,
99329,"48,XYYY syndrome",Malformation syndrome,Disorder,,0020469,Q98.8,,C4518082,,,11985
99330,"49,XYYYY syndrome",Malformation syndrome,Disorder,,0020470,Q98.8,,C4518342,,,
99228,Mosaic monosomy X syndrome,Etiological subtype,Subtype of disorder,LD50.04,0020467,Q96.4,,C5681628,,,
99324,Paternal uniparental disomy of chromosome 13 syndrome,Malformation syndrome,Disorder,LD45.1,0020468,Q99.8,,C4722326,,,
99361,Isolated familial medullary thyroid carcinoma,Disease,Disorder,2D10.4,0007958,C73,155240,C1833921,C536911,10073153,
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,,,,,
99179,Kandori fleck retina,Malformation syndrome,Disorder,9B70,0009236,H35.5,228990,C0271257,C562701,,
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,,,
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
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
99642,"Spondyloepimetaphyseal dysplasia, Handigodu type",Disease,Disorder,LD24.3,0013233,Q77.7,613343,C3150545,,,10741
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,,,
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,,,
99688,Dermotrichic syndrome,Malformation syndrome,Disorder,,0020475,Q82.4,,C0795919,,,
592574,Menke-Hennekam syndrome,Malformation syndrome,Disorder,,0020774,Q87.8,618333,C5681632,,,
592564,GNAO1-related developmental delay-seizures-movement disorder spectrum,Disease,Disorder,,0035660,G93.4,617493,C5680303,,,
592570,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,Malformation syndrome,Disorder,LD2F.1Y,0035661,Q87.8,618164,C5681633,,,
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,,,
99715,MASS syndrome,Clinical subtype,Subtype of disorder,,,,604308,,C536030,,
99718,Leber plus disease,Disease,Disorder,8C73.Y,0020478,H47.2,500001,C4304725,,,8476
590539,Isolated melanotic schwannoma,Disease,Disorder,2A02.1Y,0035136,D36.1,,C1306247,,,
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
589821,Congenital-onset Steinert myotonic dystrophy,Clinical subtype,Subtype of disorder,8C71.0,0035646,G71.1,160900,C5680305,,,
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,,,
99701,Mesial temporal lobe epilepsy with hippocampal sclerosis,Disease,Disorder,,0020476,G40.0,,C4749367,,,
589824,Childhood-onset Steinert myotonic dystrophy,Clinical subtype,Subtype of disorder,8C71.0,0035647,G71.1,160900,C5680307,,,
589833,Late-onset Steinert myotonic dystrophy,Clinical subtype,Subtype of disorder,8C71.0,0035650,G71.1,160900,C5680308,,,
589830,Adult-onset Steinert myotonic dystrophy,Clinical subtype,Subtype of disorder,8C71.0,0035649,G71.1,160900,C5680309,,,
99704,Early-onset obesity-hyperphagia-severe developmental delay syndrome,Disease,Disorder,,0850115,E66.8,613886,C3151303,,,
589905,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,Disease,Disorder,,0035133,Q87.8,617991,C4693860,,10090066,
589856,Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,Malformation syndrome,Disorder,,0035651,Q87.8,620186,C5680310,,,
99706,OBSOLETE: Progeria-associated arthropathy,Disease,Disorder,,,,,,,,
99710,Punctate acrokeratoderma freckle-like pigmentation,Disease,Disorder,,0036918,L85.8,,C5681635,,,
99750,Atypical progressive supranuclear palsy syndrome,Clinical subtype,Subtype of disorder,8A00.10,0020488,G23.1,260540,C5548371,C537240,,4507
99749,Kostmann syndrome,Disease,Disorder,4B00.00,0012548,D70,610738,C5235141,C537592,,302
99748,Pontiac fever,Disease,Disorder,1C19.0,0020487,A48.2,,C0343528,,10054161,
99757,Embryonal rhabdomyosarcoma,Clinical subtype,Subtype of disorder,,0009993,C49.9,180295,C0206656,D018233,10065868,4702
99756,Alveolar rhabdomyosarcoma,Clinical subtype,Subtype of disorder,XH7099,0009994,C49.9,268220,C0206655,D018232,10065867,4701
99734,Myotonia fluctuans,Disease,Disorder,8C71.2,0020481,G71.1,608390,C0752355,,,
99731,Isolated sulfite oxidase deficiency,Clinical subtype,Subtype of disorder,5C50.B,0010089,E72.1,272300,,C538141,,5062
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,,,
99736,Acetazolamide-responsive myotonia,Disease,Disorder,8C71.2,0020483,G71.1,608390,C4275008,,,
99741,King-Denborough syndrome,Malformation syndrome,Disorder,8C72.Y,0020485,G71.2,619542,C1840365,C536883,,8433
99742,Amish lethal microcephaly,Malformation syndrome,Disorder,LA05.0,0011790,Q02,607196,C1846648,C538247,,8606
99739,Rare familial disorder with hypertrophic cardiomyopathy,Category,Group of disorders,,,,,C5680311,D024741,,
99745,Typhoid,Disease,Disorder,1A07,0005619,A01.0,,C0041466,D014435,10045275,9564
98820,Familial focal epilepsy with variable foci,Disease,Disorder,8A61.4Y,0020310,G40.0,617935,C1858477,,,13295
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
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
98812,Paroxysmal hypnogenic dyskinesia,Disease,Disorder,,,,,C0393777,,,
98811,Paroxysmal exertion-induced dyskinesia,Disease,Disorder,8A02.2,,G24.8,612126,C1842534,C564288,,10541
98810,Paroxysmal non-kinesigenic dyskinesia,Disease,Disorder,,0700088,G24.8,611147,C1869117,C537181,,8722
98809,Paroxysmal kinesigenic dyskinesia,Disease,Disorder,8A02.2,0044202,G24.8,611031,C1868682,,,8721
98808,Autosomal dominant dopa-responsive dystonia,Disease,Disorder,8A02.11,971063,G24.1,619911,,,,
98807,"Primary dystonia, DYT13 type",Disease,Disorder,8A02.0Y,0011886,G24.1,607671,C1843264,C564354,,
98837,Acute biphenotypic leukemia,Disease,Disorder,,,,,,,,
98838,Primary mediastinal large B-cell lymphoma,Disease,Disorder,2A81.0,0020323,C85.2,,C1292754,,10036710,
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
98834,Acute myeloblastic leukemia with maturation,Disease,Disorder,2A60.32,0020320,C92.0,,C1879321,,,527
98831,Acute myeloid leukemia with 11q23 abnormalities,Disease,Disorder,2A60.0,0020317,C92.6,,C1292775,,,
98832,Acute myeloid leukemia with minimal differentiation,Disease,Disorder,2A60.30,0005223,C92.0,,C0522631,,,
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
98827,Unclassified myelodysplastic syndrome,Disease,Disorder,2A37,0020315,D46.7,,C5681636,,,
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,
98823,Chronic myelomonocytic leukemia,Disease,Disorder,2A40,0020311,C93.1,,C0023480,D015477,10009018,8225
98824,Atypical chronic myeloid leukemia,Disease,Disorder,2A41,0004653,C92.2,,C1292772,D054438,10054651,
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,
98853,Autosomal dominant Emery-Dreifuss muscular dystrophy,Etiological subtype,Subtype of disorder,8C70.2,0020336,G71.0,614302,C0410190,,,
98848,Indolent systemic mastocytosis,Disease,Disorder,XH2Y59,0020331,D47.0,,C0272203,,10056452,
98850,Aggressive systemic mastocytosis,Disease,Disorder,XH10N1,0020333,C96.2,,C1112486,,10056453,
98849,Systemic mastocytosis with associated hematologic neoplasm,Disease,Disorder,2A21.0Y,20332,D47.0,,C1301365,,,
98844,"Classic Hodgkin lymphoma, mixed cellularity type",Histopathological subtype,Subtype of disorder,2B30.12,0004633,C81.2,,C0152266,,10020242,
98843,"Classic Hodgkin lymphoma, nodular sclerosis type",Histopathological subtype,Subtype of disorder,2B30.10,0020327,C81.1,,C0152268,,10020244,
98846,"Classic Hodgkin lymphoma, lymphocyte-depleted type",Histopathological subtype,Subtype of disorder,2B30.13,0004620,C81.3,,C0152267,,10020219,
98845,"Classic Hodgkin lymphoma, lymphocyte-rich type",Histopathological subtype,Subtype of disorder,2B30.11,0004604,C81.4,,C1266194,,10020231,
98839,Intravascular large B-cell lymphoma,Disease,Disorder,2A81.1,0020324,C83.3,,C0334660,,10069643,
98842,Lymphomatoid papulosis,Disease,Disorder,2B03.1,0020326,C86.6,,C0206182,D017731,10056670,6944
98841,Anaplastic large cell lymphoma,Disease,Disorder,2A90.A,0020325,C84.7,,C0206180,D017728,,3112
589608,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",Disease,Disorder,,0035124,Q82.4,618727,C5680313,,,
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,,,
98868,Southeast Asian ovalocytosis,Disease,Disorder,3A10.Y,0008165,D58.1,166900,C1862322,,,
98869,Congenital dyserythropoietic anemia type I,Disease,Disorder,3A73,0020337,D64.4,615631,C0271933,,,2000
589618,Dystonia 28,Disease,Disorder,,0015004,G24.8,617284,C4310633,,,
98870,Congenital dyserythropoietic anemia type III,Disease,Disorder,3A73,0007109,D64.4,105600,C0271934,,,2002
589534,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),Etiological subtype,Subtype of disorder,2A61,0035639,C92.7,,C2826037,,,
98863,X-linked Emery-Dreifuss muscular dystrophy,Etiological subtype,Subtype of disorder,8C70.2,0010680,G71.0,310300,C0751337,D000083143,,
589527,Spinocerebellar ataxia type 45,Disease,Disorder,8A03.16,0033480,G11.8,617769,C4540400,,,
98864,Common hereditary elliptocytosis,Disease,Disorder,,,,,,,,
589547,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",Disease,Disorder,,0035122,G93.4,613970,C5681638,,,
98865,Homozygous hereditary elliptocytosis,Disease,Disorder,,,,,,,,
589542,Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,Disease,Disorder,2A22,0035121,D47.1,,C5229383,,,
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,,,
589435,Spondylometaphyseal dysplasia-corneal dystrophy syndrome,Malformation syndrome,Disorder,LD24.5Y,0030074,Q87.8,618961,C5394555,,,
589522,Spinocerebellar ataxia type 46,Disease,Disorder,8A03.16,0033481,G11.8,617770,C4540404,,,
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,,,
98855,Autosomal recessive Emery-Dreifuss muscular dystrophy,Etiological subtype,Subtype of disorder,8C70.2,,G71.0,616516,C1450051,,,
98856,Charcot-Marie-Tooth disease type 2B1,Disease,Disorder,8C20.1,0011569,G60.0,605588,C1854154,C537990,,
98881,Familial dysfibrinogenemia,Clinical subtype,Subtype of disorder,3B14.0,0014452,D68.2,616004,C5681639,,,2004
98880,Familial afibrinogenemia,Clinical subtype,Subtype of disorder,3B14.0,0008737,D68.2,202400,C2584774,,,5761
98879,Hemophilia B,Disease,Disorder,3B11.0,0010604,D67,300807,C0008533,D002836,10010467,8732
98886,Bleeding diathesis due to integrin alpha2-beta1 deficiency,Etiological subtype,Subtype of disorder,3B62.Y,0013622,D69.8,614200,C3280114,,,
98885,Bleeding diathesis due to glycoprotein VI deficiency,Etiological subtype,Subtype of disorder,3B62.Y,0013623,D69.8,614201,C3280120,,,13293
98873,Congenital dyserythropoietic anemia type II,Disease,Disorder,3A73,0009134,D64.4,224100,C1306589,,,2001
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
98878,Hemophilia A,Disease,Disorder,3B10.0,0010602,D66,306700,C0019069,D006467,10010468,6591
98897,Oculopharyngodistal myopathy,Disease,Disorder,9C82.1,0025193,G71.0,618940,C1834014,C563508,,12592
98895,Becker muscular dystrophy,Disease,Disorder,8C70.0,0010311,G71.0,300376,C0917713,,10059117,5900
98896,Duchenne muscular dystrophy,Disease,Disorder,8C70.1,0010679,G71.0,310200,C0013264,D020388,10013801,6291
98902,Amish nemaline myopathy,Disease,Disorder,8C72.00,0011539,G71.2,605355,C1854380,,,8334
98889,Bilateral perisylvian polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0020340,Q04.3,616531,C1845668,,,6011
98890,Early-onset X-linked optic atrophy,Disease,Disorder,,0010698,H47.2,311050,C1839576,,,10199
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,,
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
98912,"Late-onset distal myopathy, Markesbery-Griggs type",Disease,Disorder,,0012277,G71.8,609452,C1836155,C563718,,1886
98911,Distal myotilinopathy,Disease,Disorder,8C76,0012215,G71.8,609200,C4707358,,,
98914,Presynaptic congenital myasthenic syndromes,Etiological subtype,Subtype of disorder,8C61,,G70.2,617239,C0751884,,,
98913,Postsynaptic congenital myasthenic syndrome,Etiological subtype,Subtype of disorder,8C61,0020344,G70.2,615120,C0751883,,,
98916,Acute inflammatory demyelinating polyradiculoneuropathy,Disease,Disorder,8C01.0,0020347,G61.0,139393,C4551910,,,
98915,Synaptic congenital myasthenic syndrome,Etiological subtype,Subtype of disorder,8C61,,G70.2,603034,C5681640,,,
98918,Acute motor axonal neuropathy,Disease,Disorder,8C01.0,0020349,G61.0,,C3890941,,10076658,
98917,Acute motor and sensory axonal neuropathy,Disease,Disorder,8C01.0,0020348,G61.0,,C3900111,,10076657,
98904,Congenital myopathy with excess of thin filaments,Disease,Disorder,8C72.0Y,,G71.2,161800,C3711389,,,
98905,Congenital multicore myopathy with external ophthalmoplegia,Clinical subtype,Subtype of disorder,8C72.0Y,0009712,G71.2,255320,C1850674,C564969,,10316
98908,Neutral lipid storage disease with myopathy,Disease,Disorder,5C52.2,0012545,E75.5,610717,C1853136,C565192,,10288
98907,Neutral lipid storage disease with ichthyosis,Disease,Disorder,5C52.2,0010155,E75.5,275630,C0268238,C536560,,3979
98910,Alpha-crystallinopathy,Clinical group,Group of disorders,,,,,C5680317,,,
98909,Desminopathy,Disease,Disorder,8C76,0011076,G71.8,601419,C1832370,C563319,,
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,,,
98934,Huntington disease-like 2,Disease,Disorder,8A01.11,0011671,G10,606438,C1847987,C564708,,
98919,Miller Fisher syndrome,Disease,Disorder,8C01.0,0005851,G61.0,,C0393799,D019846,10049567,3668
98920,Spinal muscular atrophy with respiratory distress type 1,Disease,Disorder,8B61.0,0011436,G12.2,604320,C1858517,C536880,,8592
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,,,
98938,Colobomatous microphthalmia,Malformation syndrome,Disorder,LA10.0,0000170,Q11.2,601186,C4255043,,,3644
98949,Complete cryptophthalmia,Clinical subtype,Subtype of disorder,LA14.01,0020360,Q11.2,,C5437887,,,
98950,Partial cryptophthalmia,Clinical subtype,Subtype of disorder,LA14.01,0020361,Q11.2,,C5681641,,,
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,,,
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
98956,Epithelial basement membrane dystrophy,Disease,Disorder,9A70.Y,0007375,H18.5,121820,C0521723,C535477,,9732
98955,Lisch epithelial corneal dystrophy,Disease,Disorder,9A70.Y,0010425,H18.5,620763,C2749050,C567588,,
98954,Meesmann corneal dystrophy,Disease,Disorder,9A70.Y,0007379,H18.5,122100,C0339277,D053559,,9688
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
98963,Granular corneal dystrophy type II,Disease,Disorder,9A70.Y,0011855,H18.5,607541,C1275685,C535474,,9278
98962,Granular corneal dystrophy type I,Disease,Disorder,9A70.Y,0007377,H18.5,121900,C1641846,C537304,,9677
98961,Reis-Bücklers corneal dystrophy,Disease,Disorder,9A70.Y,0012043,H18.5,608470,C0339278,C535476,,9276
98960,Thiel-Behnke corneal dystrophy,Disease,Disorder,9A70.Y,0011185,H18.5,602082,C1562894,C535942,,9275
98959,Subepithelial mucinous corneal dystrophy,Disease,Disorder,9A70.Y,0013026,H18.5,612867,C2748503,C567547,,
98971,Posterior amorphous corneal dystrophy,Disease,Disorder,9A70.Y,0013027,H18.5,612868,C2748502,C567546,,
98972,Central cloudy dystrophy of François,Disease,Disorder,9A70.Y,0009018,H18.5,217600,C1622427,C563262,,
98973,Posterior polymorphous corneal dystrophy,Disease,Disorder,LA11.5,0020364,H18.5,122000,C0339284,,,
98974,Fuchs endothelial corneal dystrophy,Disease,Disorder,9A70.0,0005321,H18.5,615523,C0016781,D005642,,10018
98967,Schnyder corneal dystrophy,Disease,Disorder,9A70.Y,0007374,H18.5,121800,C0271287,C535475,,9277
98968,Central discoid corneal dystrophy,Disease,Disorder,,,,,,,,
98969,Macular corneal dystrophy,Disease,Disorder,9A70.Y,0009020,H18.5,217800,C0024439,,10025406,6953
98970,Fleck corneal dystrophy,Disease,Disorder,9A70.Y,0007376,H18.5,121850,C1562113,C563256,,
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
98977,Juvenile glaucoma,Disease,Disorder,9C61.41,0020367,H40.1,611274,C2981140,,10064032,
98978,Axenfeld anomaly,Morphological anomaly,Disorder,LA11.2,0020368,Q15.0,602482,C0266548,,10058653,
98988,Early-onset anterior polar cataract,Clinical subtype,Subtype of disorder,LA12.1,0020373,Q12.0,601202,C1855179,C538282,,1140
98987,"OBSOLETE: Cataract, Hutterite type",Clinical subtype,Subtype of disorder,,,,,,,,
98990,Coralliform cataract,Clinical subtype,Subtype of disorder,LA12.1,,Q12.0,115800,C1392104,,,
98989,Cerulean cataract,Clinical subtype,Subtype of disorder,LA12.1,0020374,Q12.0,614422,C0344523,C537955,10090531,9508
98984,Pulverulent cataract,Clinical subtype,Subtype of disorder,LA12.1,0011430,Q12.0,116300,C1833118,C563426,,
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,,
98995,Early-onset zonular cataract,Clinical subtype,Subtype of disorder,LA12.1,0020379,Q12.0,613763,C5681642,C535342,,1898
98992,Early-onset partial cataract,Clinical subtype,Subtype of disorder,LA12.1,0020377,Q12.0,115800,C5681643,,,
98991,Early-onset nuclear cataract,Clinical subtype,Subtype of disorder,LA12.1,0020376,Q12.0,611391,C5681644,,,
98994,Total early-onset cataract,Clinical subtype,Subtype of disorder,LA12.1,0021548,Q12.0,618415,C0266539,C535341,,1159
98993,Early-onset posterior polar cataract,Clinical subtype,Subtype of disorder,LA12.1,0020378,Q12.0,619593,C0858617,,,
99001,Butterfly-shaped pigment dystrophy,Disease,Disorder,9B70,0100466,H35.5,610125,C4511237,,,
99002,Reticular dystrophy of the retinal pigment epithelium,Disease,Disorder,9B70,0009979,H35.5,179840,C1867332,C566721,,
99000,Adult-onset foveomacular vitelliform dystrophy,Disease,Disorder,9B70,0011979,H35.5,616152,C1842914,,,10909
99003,Multifocal pattern dystrophy simulating fundus flavimaculatus,Disease,Disorder,9B70,0020382,H35.5,,C4509881,,,
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
99014,X-linked Charcot-Marie-Tooth disease type 5,Disease,Disorder,LD90.Y,0010699,G60.0,311070,C1839566,,,114
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
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,,,
585877,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,Etiological subtype,Subtype of disorder,,0035605,C91.0,,C2698313,,,
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),Etiological subtype,Subtype of disorder,2A70.1,0035940,C91.0,,C5680319,,,
585936,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,Etiological subtype,Subtype of disorder,2A70.Y,0035943,C91.0,,C2698311,,,
585942,B-lymphoblastic leukemia/lymphoma with hypodiploidy,Etiological subtype,Subtype of disorder,2A70.Y,0035944,C91.0,,C2698312,,,
585918,B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),Etiological subtype,Subtype of disorder,2A70.Y,0035941,C91.0,,C2698309,,,
585929,B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),Etiological subtype,Subtype of disorder,2A70.Y,0035942,C91.0,,C2698314,,,
99027,Adult-onset autosomal dominant leukodystrophy,Disease,Disorder,8A44.1,0008215,E75.2,169500,C1868512,C566813,,10587
585956,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),Etiological subtype,Subtype of disorder,2A70.Y,0600030,C91.0,,C2698315,,,
585948,B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),Etiological subtype,Subtype of disorder,2A70.Y,0035945,C91.0,,C2698316,,,
586130,Sporadic fatal insomnia,Disease,Disorder,6D85.5,0035614,A81.9,,C5567889,,,
99042,Congenitally uncorrected transposition of the great arteries with coarctation,Clinical subtype,Subtype of disorder,,0020385,Q20.3,,C5680321,,,
99043,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,Clinical subtype,Subtype of disorder,,0020386,Q21.3,,,,,
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,,,
99046,Double outlet right ventricle with non-committed subpulmonary ventricular septal defect,Clinical subtype,Subtype of disorder,LA85.21,0020388,Q20.1,,C1956410,,,
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
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,,,
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,,,
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,,,
98673,"Autosomal dominant optic atrophy, classic form",Disease,Disorder,9C40.8,0008134,H47.2,610708,C0338508,,,
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
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,,,
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,,,
98625,Superficial corneal dystrophy,Category,Group of disorders,,0020212,,,C2315777,,,
98620,OBSOLETE: Syndromic myopia,Category,Group of disorders,,,,,,,,
98619,Rare isolated myopia,Disease,Disorder,9D00.0,0020207,H52.1,615431,C4751232,,,
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,,,
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,,,
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,,,
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,,,
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,
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,,,
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
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,,,
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,,,
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,,,
98797,Isochromosomy Yp syndrome,Malformation syndrome,Disorder,,0020304,Q98.6,,C4707793,,,
98795,Angelman syndrome due to paternal uniparental disomy of chromosome 15,Etiological subtype,Subtype of disorder,LD90.0,0020303,Q93.5,105830,C5680342,,,
98794,Angelman syndrome due to maternal 15q11q13 deletion,Etiological subtype,Subtype of disorder,LD90.0,0020302,Q93.5,,C5566334,,,
98793,Prader-Willi syndrome due to paternal 15q11q13 deletion,Etiological subtype,Subtype of disorder,LD90.3,0020301,Q87.1,,C5681699,,,
98791,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,Malformation syndrome,Disorder,3A50.1,,D56.0,141750,C0795917,C563050,,
98806,"Primary dystonia, DYT6 type",Disease,Disorder,8A02.0Y,0011264,G24.1,602629,C1414216,C538003,,9630
98805,"Primary dystonia, DYT4 type",Disease,Disorder,8A02.0Y,0007493,G24.1,128101,C1860315,C536698,,10138
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
98764,Spinocerebellar ataxia type 27A,Disease,Disorder,8A03.16,0012247,G11.8,193003,C1836383,C537204,,9963
98763,Spinocerebellar ataxia type 14,Disease,Disorder,8A03.16,0011540,G11.2,605361,C1854369,C537196,,9867
98766,Spinocerebellar ataxia type 5,Disease,Disorder,8A03.16,0010848,G11.2,600224,C0752123,,,4953
98765,Spinocerebellar ataxia type 4,Disease,Disorder,8A03.16,0010847,G11.2,600223,C0752122,,,9970
98760,Spinocerebellar ataxia type 8,Disease,Disorder,8A03.16,0012116,G11.2,608768,C1837454,C537307,,4956
98759,Spinocerebellar ataxia type 17,Disease,Disorder,8A03.16,0011781,G11.8,607136,C1846707,C564616,,10469
98762,Spinocerebellar ataxia type 12,Disease,Disorder,8A03.16,0011439,G11.2,604326,C1858501,C565790,,10476
98761,Spinocerebellar ataxia type 10,Disease,Disorder,8A03.16,0011330,G11.2,603516,C1963674,C566874,,10474
98772,Spinocerebellar ataxia type 19/22,Disease,Disorder,8A03.16,0011819,G11.2,607346,C5235656,C537198,,12365
98771,Spinocerebellar ataxia type 18,Disease,Disorder,8A03.16,0011834,G11.8,607458,C1843884,C537197,,9976
98773,Spinocerebellar ataxia type 21,Disease,Disorder,8A03.16,0011833,G11.1,607454,C1843891,C537200,,9999
98768,Spinocerebellar ataxia type 13,Disease,Disorder,8A03.16,0011529,G11.2,605259,C1854488,C537195,,9611
98767,Spinocerebellar ataxia type 11,Disease,Disorder,8A03.16,0011464,G11.8,604432,C1858351,C565772,,10475
98770,Spinocerebellar ataxia type 16,Disease,Disorder,,,,,,,,
98769,Spinocerebellar ataxia type 15/16,Disease,Disorder,8A03.16,0011694,G11.2,606658,C1847725,,,10477
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,,,
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
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,,,
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
98756,Spinocerebellar ataxia type 2,Disease,Disorder,8A03.16,0008458,G11.2,183090,C0752121,,,4072
98757,Spinocerebellar ataxia type 3,Disease,Disorder,8A03.16,0007182,G11.8,109150,C0024408,D017827,,6801
98758,Spinocerebellar ataxia type 6,Disease,Disorder,8A03.16,0008457,G11.2,183086,C0752124,,,10351
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
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,,,
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,,,
98353,Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5680345,,,
98356,Autosomal recessive isolated diffuse palmoplantar keratoderma,Category,Group of disorders,,,,,C5680346,,,
98357,Autosomal recessive disease with focal palmoplantar keratoderma as a major feature,Category,Group of disorders,,,,,C5680347,,,
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,,,
98349,Autosomal dominant isolated diffuse palmoplantar keratoderma,Category,Group of disorders,,,,,C5680349,,,
98306,Familial partial lipodystrophy,Clinical group,Group of disorders,,0020088,,,C0271694,D052496,10087377,11962
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,,,
576235,Partial atrioventricular septal defect without ventricular hypoplasia,Clinical subtype,Subtype of disorder,,,Q21.2,,C5680352,,,
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,
575553,Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,Disease,Disorder,,0035551,I67.8,621394,C5680354,,,
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,,,
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,,,
576370,Variant Creutzfeldt-Jakob disease,Disease,Disorder,8E01.2,0007012,A81.0,,C0376329,,10064199,9550
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,,,
576278,SATB2-associated syndrome,Malformation syndrome,Disorder,,0100147,Q87.8,612313,C5243581,,10083270,
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,,,
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,,,
574918,Predisposition to severe viral infection due to IRF7 deficiency,Disease,Disorder,,0035547,D84.8,616345,C4225358,,,
98375,Autoimmune hemolytic anemia,Clinical group,Group of disorders,3A20,0020108,,,C0002880,D000744,10002046,5870
573278,Split cord malformation,Clinical group,Group of disorders,,,Q06.2,,,,,
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,,
572361,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,Clinical subtype,Subtype of disorder,LD21.Y,0035525,Q10.3,110100,C5680363,,,
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,
572428,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,Disease,Disorder,CB04.31,0035529,J84.0,618042,C5680364,,,
98434,Hereditary combined deficiency of vitamin K-dependent clotting factors,Disease,Disorder,3B14.2,0015722,D68.2,607473,C4510617,,,
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,,,
572550,RFVT3-related riboflavin transporter deficiency,Clinical subtype,Subtype of disorder,LD2H.Y,0013867,G12.1,211530,C3553538,,,
572773,Microcephaly-short stature-limb abnormalities syndrome,Clinical subtype,Subtype of disorder,,0060533,Q87.1,617604,C3811554,,,
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,,,
572761,DONSON-related microcephaly-short stature-limb abnormalities spectrum,Malformation syndrome,Disorder,,0035534,Q87.1,617604,C5681722,,,
572768,Microcephaly-micromelia syndrome,Clinical subtype,Subtype of disorder,,0009619,Q87.1,251230,C1855079,C565382,,
98523,Non-syndromic pontocerebellar hypoplasia,Clinical group,Group of disorders,LD20.01,0020135,,,C1261175,,,10977
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,,,
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,,,
572354,Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,Clinical subtype,Subtype of disorder,LD21.Y,0035524,Q10.3,110100,C5680365,,,
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
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,,,
98491,Neuromuscular junction disease,Category,Group of disorders,,0020124,,,C0751950,D020511,,
570470,Ricin poisoning,Disease,Disorder,NE61,0035511,T62.2,,C1443942,,,
570438,HHV-8-associated multicentric Castleman disease,Clinical subtype,Subtype of disorder,2A81.Y,0019754,D47.7,,C5197664,,,22310
570431,Idiopathic multicentric Castleman disease,Clinical subtype,Subtype of disorder,4B2Y,0035838,D47.7,,C5197665,,,
570422,Galactose mutarotase deficiency,Disease,Disorder,5C51.4Y,30105,E88.8,618881,C5394377,,,
570371,Bartter syndrome type 5,Clinical subtype,Subtype of disorder,GB90.43,0010503,E26.8,300971,C5680366,,,
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,,,,,,,,
708881,Phenylalanine hydroxylase deficiency,Clinical group,Group of disorders,,,,261600,,,,
708895,Tetrahydrobiopterin-unresponsive phenylketonuria,Clinical subtype,Subtype of disorder,,,,261600,,,,
708203,Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome,Malformation syndrome,Disorder,,,,301044,,,,
708651,Phosphoribosylformylglycinamidine synthase deficiency,Disease,Disorder,,,,,,,,
708208,Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome,Malformation syndrome,Disorder,,,,618603,,,,
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,,,,
714164,Acute posterior multifocal placoid pigment epitheliopathy,Disease,Disorder,,,,,,,,
714160,Presumed ocular histoplasmosis syndrome,Disease,Disorder,,,,,,,,
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,,,,
714046,Primary choroidal lymphoma,Disease,Disorder,,,,,,,,
714041,Straatsma syndrome,Disease,Disorder,,,,,,,,
714109,Ocular siderosis,Disease,Disorder,,,,,,,,
714101,Acute idiopathic maculopathy,Disease,Disorder,,,,,,,,
714096,"Congenital stationary night blindness, Riggs type",Disease,Disorder,,,,610444,,,,
714090,"Congenital stationary night blindness, Schubert-Bornschein type",Disease,Disorder,,,,300071,,,,
714484,AGR2-related infantile-onset inflammatory bowel disease,Disease,Disorder,,,,620233,,,,
714487,Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome,Disease,Disorder,,,,618168,,,,
714477,Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome,Disease,Disorder,,,,,,,,
714481,SCGN-related severe early-onset hereditary ulcerative colitis,Disease,Disorder,,,,,,,,
714496,Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome,Disease,Disorder,,,,617718,,,,
714652,PCDH19 clustering epilepsy,Disease,Disorder,,,,300088,,,,
714490,PERCC1-related congenital intractable malabsorptive diarrhea,Disease,Disorder,,,,618662,,,,
714493,Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency,Disease,Disorder,,,,614493,,,,
714407,Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation,Etiological subtype,Subtype of disorder,,,,618286,,,,
714410,CARD8-related inflammatory bowel disease,Disease,Disorder,,,,619079,,,,
714399,Global developmental delay-dental enamel defects-ataxia syndrome,Malformation syndrome,Disorder,,,,617915,,,,
714404,Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome,Malformation syndrome,Disorder,,,,618286,,,,
714429,Pseudo-TORCH syndrome type 3,Disease,Disorder,,,,,,,,
714472,Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome,Disease,Disorder,,,,618394,,,,
714413,9p23p22.2 microdeletion syndrome,Etiological subtype,Subtype of disorder,,,,,,,,
714423,Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome,Disease,Disorder,,,,,,,,
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,,,,,,,,
715125,Hemoglobin E-beta-thalassemia intermedia,Clinical subtype,Subtype of disorder,,,,,,,,
714785,Unifocal sporadic venous malformation,Morphological anomaly,Disorder,,,,,,,,
714829,Immune checkpoint inhibitor-induced myositis,Disease,Disorder,,,,,,,,
714806,Multifocal sporadic venous malformation,Morphological anomaly,Disorder,,,,,,,,
714726,Retroperitoneal arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,
714715,Pelvic arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,
714737,Diffuse capillary malformation with overgrowth,Morphological anomaly,Disorder,,,,,,,,
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,,,,,,,,
714702,Abdominal arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,
715326,Spinal epidural arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,
715331,Paraspinal arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,
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,,,,,,,,
715307,Acquired spinal dural arteriovenous fistula,Morphological anomaly,Disorder,,,,,,,,
715318,Acquired intracranial dural arteriovenous fistula,Disease,Disorder,,,,,,,,
715154,Low oxygen affinity alpha chain hemoglobin disease,Etiological subtype,Subtype of disorder,,,,,,,,
715157,Low oxygen affinity beta chain hemoglobin disease,Etiological subtype,Subtype of disorder,,,,,,,,
715284,Spinal cord arteriovenous malformation,Morphological anomaly,Disorder,,,,,,,,
715135,Hemoglobin Lepore-beta-thalassemia intermedia,Clinical subtype,Subtype of disorder,,,,,,,,
715140,Hemoglobin Lepore-beta-thalassemia major,Clinical subtype,Subtype of disorder,,,,,,,,
715143,Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene,Disease,Disorder,,,,,,,,
715147,Low oxygen affinity hemoglobin disease,Disease,Disorder,,,,,,,,
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,,,,
715635,Rothmund-Thomson syndrome type 4,Clinical subtype,Subtype of disorder,,,,620819,,,,
715623,Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome,Disease,Disorder,,,,621010,,,,
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,,,,,,,,
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,,,,,,,,
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,,,,,,,,
716758,Fast-channel congenital myasthenic syndrome,Etiological subtype,Subtype of disorder,,,,,,,,
716765,Slow-channel congenital myasthenic syndrome,Etiological subtype,Subtype of disorder,,,,,,,,
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,,,,,,,,
716893,Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine,Etiological subtype,Subtype of disorder,,,,,,,,
716889,Congenital myasthenic syndromes due to defective axonal transport,Etiological subtype,Subtype of disorder,,,,,,,,
716881,Congenital myasthenic syndrome due to a sodium channel 1.4 defect,Etiological subtype,Subtype of disorder,,,,,,,,
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,,,,,,,,
716903,Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis,Etiological subtype,Subtype of disorder,,,,,,,,
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,,,,
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,,,,
694956,Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome,Malformation syndrome,Disorder,,,,619769,,,,
695020,Urachal carcinoma,Disease,Disorder,,,,,,,,
694356,ADAR-related hereditary spastic paraplegia,Disease,Disorder,,,,,,,,
694937,Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency,Malformation syndrome,Disorder,,,,619844,,,,
694922,Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome,Disease,Disorder,,,,618170,,,,
693912,EPHB4-related capillary malformation-arteriovenous malformation,Malformation syndrome,Disorder,,,,618196,,,,
693907,RASA1-related capillary malformation-arteriovenous malformation,Malformation syndrome,Disorder,,,,608354,,,,
694308,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation,Etiological subtype,Subtype of disorder,,,,616083,,,,
694304,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome,Disease,Disorder,,,,616083,,,,
694228,Congenital intrahepatic arterioportal fistula,Malformation syndrome,Disorder,,,,,,,,
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,,,,
696206,Congenital generalized lipodystrophy type 3,Clinical subtype,Subtype of disorder,,,,612526,,,,
696242,PPARG-associated congenital generalized lipodystrophy,Clinical subtype,Subtype of disorder,,,,,,,,
696289,Congenital generalized lipodystrophy type 2,Clinical subtype,Subtype of disorder,,,,269700,,,,
695783,EDEM3-CDG,Disease,Disorder,,,,619493,,,,
695807,Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome,Disease,Disorder,,,,619381,,,,
696063,PLIN4-related distal myopathy,Disease,Disorder,,,,601846,,,,
696078,Central giant cell granuloma,Disease,Disorder,,,,,,,,
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,,,,,
695183,Late-onset combined immunodeficiency due to ICOS deficiency,Disease,Disorder,,,,607594,,,,
695172,Combined immunodeficiency due to dimerization defective IKAROS mutation,Disease,Disorder,,,,,,,,
695611,3q26q28 deletion syndrome,Malformation syndrome,Disorder,,,,,,,,
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,,,,,,,,
695038,Small omphalocele,Clinical subtype,Subtype of disorder,,,,,,,,
695131,Acinar cystic transformation of the pancreas,Disease,Disorder,2E92.8,,D13.6,,,,,
695110,MAN2B2-CDG,Disease,Disorder,,,,,,,,
695140,Sickle cell-beta zero-thalassemia,Etiological subtype,Subtype of disorder,3A51.3,,D57.2,,,,,
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
697091,Emergomycosis,Disease,Disorder,1F2L,,B48.7,,,,,
697096,Cryptosporidiosis,Disease,Disorder,1A32,,A07.2,,,,,
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
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,,,,,
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,,,,
696942,Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency,Disease,Disorder,,,,618459,,,,
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,,,,
104007,Congenital enteropathy involving intestinal mucosa development,Category,Group of disorders,,,,,C5681743,,,
696931,Common variable immunodeficiency phenotype due to TWEAK deficiency,Disease,Disorder,,,,,,,,
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,,,,
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
103917,OBSOLETE: Autoimmune enteropathy type 3,Disease,Disorder,,,,,,,,
696907,Common variable immunodeficiency phenotype due to homozygous TACI deficiency,Disease,Disorder,,,,609529,,,,
103918,Tropical pancreatitis,Disease,Disorder,DC32.5,0011986,K86.1,608189,C1842402,C564276,,
696904,Common variable immunodeficiency phenotype due to IRF2BP2 deficiency,Disease,Disorder,,,,617765,,,,
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,,,,
103910,Congenital enterocyte heparan sulfate deficiency,Disease,Disorder,DA90.Y,0015171,P78.3,,C4511238,,,
103912,OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome,Disease,Disorder,,,,,,,,
103908,Congenital sodium diarrhea,Disease,Disorder,DA90.1,0015170,K90.8,616868,C0267663,,,
696881,Common variable immunodeficiency phenotype due to CD19/CD81 deficiency,Disease,Disorder,,,,613493,,,,
103909,Trehalase deficiency,Disease,Disorder,5C61.3,12803,E74.3,612119,C0268187,C562603,,10372
696874,NFKB1-related immune dysregulation,Disease,Disorder,4A01.2Y,,D81.8,616576,,,,
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
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,,,
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,,,,,
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,,,,,
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,,,,,
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,,,,,
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,,,,,
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,,,,
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,,,,
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,,,,,,,,
108979,Syndromic diaphragmatic or abdominal wall malformation,Category,Group of disorders,,,,,C5681759,,,19864
697734,ST3GAL3-CDG,Disease,Disorder,,,,611090,,,,
697417,Common variable immunodeficiency phenotype due to SEC61A1 deficiency,Disease,Disorder,4A01.0Y,,D80.8,620670,,,,
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,,,,
697403,Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency,Disease,Disorder,,,,,,,,
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,,,,
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,,,,
697385,Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency,Disease,Disorder,,,,619437,,,,
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,,,,
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,,,,,
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,,,,,
101998,Rare epilepsy,Category,Group of disorders,,,,,C5681770,,,19814
699605,NEMO deleted exon 5 autoinflammatory syndrome,Disease,Disorder,,,,301081,,,,
699599,ICHAD syndrome,Disease,Disorder,,,,621234,,,,
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,,,,
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,,,,
102006,Neurovascular malformation,Category,Group of disorders,,,,,C5681774,,,19819
699683,Fibro-adipose vascular anomaly,Disease,Disorder,,,,,,,,
699678,Necrotizing cellulitis,Clinical subtype,Subtype of disorder,,,,,,,,
102005,Brain inflammatory disease,Category,Group of disorders,,,,,C5681775,,,
698260,Carotid web,Disease,Disorder,BD41.0,,I77.3,,,,,
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,,,,
698090,Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,,,,617333,,,,
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,,,,,,,,
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,,,,
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,,,,,
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,,,,,
700124,Autosomal recessive hereditary chronic pancreatitis,Disease,Disorder,DC32.2,,K86.1,167800,,,,
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,,,,,,,,
700136,Early-onset idiopathic chronic pancreatitis,Clinical subtype,Subtype of disorder,,,,,,,,
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,,,,,,,
699702,Necrotizing myositis,Clinical subtype,Subtype of disorder,,,,,,,,
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,,,,
102012,Pure hereditary spastic paraplegia,Clinical group,Group of disorders,,0015149,,,C0393555,,,
699734,Late infantile CLN1 disease,Clinical subtype,Subtype of disorder,,,,256730,,,,
102015,Autosomal recessive limb-girdle muscular dystrophy,Category,Group of disorders,8C70.41,0015152,,,C2931907,C538640,,
699739,Juvenile CLN1 disease,Clinical subtype,Subtype of disorder,,,,256730,,,,
699745,Adult CLN1 disease,Clinical subtype,Subtype of disorder,,,,256730,,,,
102014,Autosomal dominant limb-girdle muscular dystrophy,Category,Group of disorders,8C70.40,0015151,,,C5675009,,,
699751,Infantile CLN2 disease,Clinical subtype,Subtype of disorder,,,,204500,,,,
699761,Late infantile CLN2 disease,Clinical subtype,Subtype of disorder,,,,204500,,,,
699769,Juvenile CLN2 disease,Clinical subtype,Subtype of disorder,,,,204500,,,,
699780,Juvenile CLN3 disease,Clinical subtype,Subtype of disorder,,,,204200,,,,
699796,Protracted juvenile CLN3 disease,Clinical subtype,Subtype of disorder,,,,204200,,,,
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,,,,
699812,Adult CLN5 disease,Clinical subtype,Subtype of disorder,,,,256731,,,,
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,,,,
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,,,,
700492,Late infantile CLN10 disease,Clinical subtype,Subtype of disorder,,,,610127,,,,
700487,Congenital CLN10 disease,Clinical subtype,Subtype of disorder,,,,610127,,,,
700484,Late infantile CLN8 disease,Clinical subtype,Subtype of disorder,,,,,,,,
700477,Adult CLN6 disease,Clinical subtype,Subtype of disorder,,,,204300,,,,
101685,Rare non-syndromic intellectual disability,Disease,Disorder,,0015108,F70,,C4751233,,,19783
700472,Juvenile CLN6 disease,Clinical subtype,Subtype of disorder,,,,601780,,,,
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,,,,,
101351,Familial isolated congenital asplenia,Morphological anomaly,Disorder,LB22.0,0010066,Q89.0,271400,C4512055,,,
700170,DNAJB4-related distal myopathy,Disease,Disorder,8C75,,G71.0,,,,,
700160,ADNP-related blepharophimosis-intellectual disability syndrome,Disease,Disorder,,,,,,,,
700163,SMPX-related distal myopathy,Disease,Disorder,8C75,,G71.0,301075,,,,
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,,,,,,,,
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,,,,
700333,Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency,Clinical subtype,Subtype of disorder,LD90.Y,,Q87.8,616801,,,,
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,,,,
101356,OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome,Disease,Disorder,,,,,,,,
700325,NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome,Malformation syndrome,Disorder,,,,301039,,,,
700205,Combined immunodeficiency due to IKBKB gain-of-function mutation,Disease,Disorder,,,,618204,,,,
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,,,,
708036,Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth,Malformation syndrome,Disorder,,,,617392,,,,
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,,,,
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,,,,
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,,,,,,,,
708178,Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome,Malformation syndrome,Disorder,,,,617260,,,,
708126,DNAJB6-related distal myopathy,Disease,Disorder,,,,,,,,
708123,Autosomal dominant distal nebulin myopathy,Disease,Disorder,,,,,,,,
708133,Autosomal dominant ACTN2-related distal myopathy,Disease,Disorder,,,,618655,,,,
708129,Autosomal recessive ACTN2-related distal myopathy,Disease,Disorder,,,,,,,,
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,,,,,,,,
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,,,,
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
707983,Early-onset autosomal recessive TTN-related distal myopathy,Disease,Disorder,,,,,,,,
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,,,,,,,,
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,,,
101150,Autosomal recessive dopa-responsive dystonia,Disease,Disorder,8A02.11,0011551,G24.1,605407,C5700309,C537537,,1902
664500,Hermansky-Pudlak syndrome due to AP3B1 deficiency,Clinical subtype,Subtype of disorder,,0011997,,,C5889871,,,
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
101112,Spinocerebellar ataxia type 26,Disease,Disorder,8A03.16,0012246,G11.2,609306,C1836395,C537203,,9995
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
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,,,
101110,Spinocerebellar ataxia type 20,Disease,Disorder,8A03.16,0012098,G11.2,608687,C1837541,C537199,,9997
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
664430,Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome,Malformation syndrome,Disorder,,0958278,Q04.8,620746,C5925058,,,
664416,Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation,Etiological subtype,Subtype of disorder,,0975751,,613443,C5925059,,,
664410,Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,,,Q87.0,613443,C3150700,,,
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
664912,Neonatal renal venous thrombosis,Disease,Disorder,GB90.3,0971105,I82.8,,C5925061,,,
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
664901,Trigeminal trophic syndrome,Disease,Disorder,,0800478,G50.8,,C1274928,,,
664729,EBV-induced lymphoproliferative disease due to TET2 deficiency,Disease,Disorder,,,D82.3,619126,C5925062,,,
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,,,
101206,Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome,Malformation syndrome,Disorder,LA88.20,0015103,Q22.2,,C4707896,,,19780
664711,EBV-induced lymphoproliferative disease due to PRKCD deficiency,Disease,Disorder,,,D82.3,615559,C5925065,,,
664699,EBV-induced lymphoproliferative disease due to RASGRP1 deficiency,Disease,Disorder,,,D82.3,,C5925066,,,
662473,Isolated duodenal duplication,Clinical subtype,Subtype of disorder,LB14,,Q43.4,,C5925067,,,
101085,Charcot-Marie-Tooth disease type 1F,Disease,Disorder,8C20.0,0011902,G60.0,607734,C1843164,C537987,,
662456,Isolated small intestine duplication,Morphological anomaly,Disorder,LB15.Y,,Q43.4,,,,,
662721,Placenta accreta spectrum disorder,Disease,Disorder,JA8A.2,0005916,O43.2,,,,,
662480,Isolated jejuno-ileal duplication,Clinical subtype,Subtype of disorder,,,,,C5925068,,,
101088,X-linked hyper-IgM syndrome,Clinical subtype,Subtype of disorder,4A01.1Y,0010626,D80.5,308230,C0398689,D053307,,73
662388,Isolated gallbladder duplication,Morphological anomaly,Disorder,LB20.1Y,,Q44.1,,C0266250,,,
101081,Charcot-Marie-Tooth disease type 1A,Disease,Disorder,LD41.G1,0007309,G60.0,118220,C0270911,,,1245
662376,Isolated gastric duplication,Morphological anomaly,Disorder,,,Q40.2,,C0266148,,,
101082,Charcot-Marie-Tooth disease type 1B,Disease,Disorder,8C20.0,0007307,G60.0,118200,C0270912,,,
662405,Isolated pyloric duplication,Morphological anomaly,Disorder,,,Q40.2,,C5925069,,,
101083,Charcot-Marie-Tooth disease type 1C,Disease,Disorder,8C20.0,0010995,G60.0,601098,C0270913,C537984,,
662392,Isolated colonic duplication,Morphological anomaly,Disorder,,,Q43.4,,C0266202,,,
101084,Charcot-Marie-Tooth disease type 1D,Disease,Disorder,8C20.0,0011890,G60.0,607678,C1843247,C537985,,
662240,Frey syndrome,Clinical syndrome,Disorder,8B82.Z,7753,G50.8,,C0162473,D013547,,
101077,X-linked Charcot-Marie-Tooth disease type 3,Disease,Disorder,LD90.Y,0010551,G60.0,302802,C1844865,C535303,,
101078,X-linked Charcot-Marie-Tooth disease type 4,Disease,Disorder,LD90.Y,0010689,G60.0,310490,C0795910,C536450,,
662234,Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome,Malformation syndrome,Disorder,,0859143,Q87.8,619312,C5543339,,,
662367,NESCAV syndrome,Disease,Disorder,,,G93.8,614255,C5393830,,,
662255,Grisel syndrome,Clinical syndrome,Disorder,LB73.22,0971080,M43.8,,C0263885,,,
662216,Mucopolysaccharidosis type 10,Disease,Disorder,5C56.3Y,30524,E76.2,619698,C5925070,,,
662207,Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome,Malformation syndrome,Disorder,,0859301,Q87.8,620083,C5774235,,,
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,,
101076,X-linked Charcot-Marie-Tooth disease type 2,Disease,Disorder,LD90.Y,0010550,G60.0,302801,C1844873,C535302,,
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,,
664401,Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation,Etiological subtype,Subtype of disorder,,0971094,,614980,C5925073,,,
101101,Charcot-Marie-Tooth disease type 2B2,Disease,Disorder,8C20.1,0011570,G60.0,605589,C1854150,C537991,,
664404,6q25.1 microdeletion syndrome,Etiological subtype,Subtype of disorder,,0971095,,614980,C5925074,,,
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
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,,,
101090,Hyper-IgM syndrome type 3,Clinical subtype,Subtype of disorder,4A01.1Y,0011735,D80.5,606843,C1720957,,,10579
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
662829,Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome,Disease,Disorder,,0060763,Q87.0,618092,C5925076,,,
101092,Hyper-IgM syndrome type 5,Clinical subtype,Subtype of disorder,4A01.05,0011971,D80.5,608106,C1720958,,,10581
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,,,
675359,Anastomosing haemangioma,Disease,Disorder,,0975757,,,C4329301,,,
101052,OBSOLETE: Microlissencephaly type B,Disease,Disorder,,,,,,,,
675216,Spinocerebellar ataxia type 27B,Disease,Disorder,,859340,,620174,C5925077,,,
101049,Familial hypocalciuric hypercalcemia type 2,Etiological subtype,Subtype of disorder,5A51.2,0007792,E83.5,145981,C1840347,C537146,,9758
101050,Familial hypocalciuric hypercalcemia type 3,Etiological subtype,Subtype of disorder,5A51.2,0010926,E83.5,600740,C1833372,C537147,,2878
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,,,
101043,Congenital aortic valve dysplasia,Clinical subtype,Subtype of disorder,,,Q23.0,,C5397239,,,19776
674943,Isolated angioid streaks,Disease,Disorder,9B78.3Y,0971126,,,C5925080,,,
674935,Torpedo Maculopathy,Disease,Disorder,9B6Y,0971125,,,C5891237,,,
674930,Perifoveal exudative vascular anomalous complex,Disease,Disorder,9B7Y,0971124,,,C5925081,,,
101041,Familial hypofibrinogenemia,Clinical subtype,Subtype of disorder,3B14.0,0015096,D68.2,202400,C5681803,,,2887
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,
674958,Stellate multiform amelanotic choroidopathy,Disease,Disorder,9B6Y,0971129,,,C5925082,,,
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
101068,Congenital stromal corneal dystrophy,Disease,Disorder,9A70.Y,0012401,H18.5,610048,C1864738,C566452,,
675767,Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency,Disease,Disorder,,0032899,,618752,C5925083,,,
101071,Unilateral hemispheric polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0015099,Q04.3,,C5681804,,,19777
101070,Bilateral frontoparietal polymicrogyria,Clinical subtype,Subtype of disorder,LA05.50,0011738,Q04.3,606854,C1847352,C564652,,10784
675597,Acquired elastotic haemangioma,Disease,Disorder,2F2Y,0975759,,,C5925084,,,
675396,Epithelioid hemangioma,Disease,Disorder,,0021169,,,,,,
675404,May-Thurner syndrome,Disease,Disorder,BD73.2Y,0043361,,,C3165062,,10069727,
675628,TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome,Disease,Disorder,,0024777,,301078,C5676883,,,
101063,Situs inversus totalis,Morphological anomaly,Disorder,LA82,10029,Q89.3,,C0037221,,,4883
667678,Intraoral basal cell carcinoma,Disease,Disorder,2E60.0,0971111,D00.0,,C5925085,,,
667662,Breast implant-associated anaplastic large cell lymphoma,Disease,Disorder,2A90.B,850112,C84.7,,C4528210,,10082495,
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
101010,Autosomal spastic paraplegia type 30,Disease,Disorder,8B44.0Y,0012476,G11.4,610357,C5235139,,,
101011,Autosomal dominant spastic paraplegia type 31,Disease,Disorder,8B44.00,0012453,G11.4,610250,C1853247,C565210,,10817
101016,Romano-Ward syndrome,Disease,Disorder,BC65.0,,I45.8,613693,C4551647,D029597,10039211,3284
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,,,
674762,Early-onset autoinflammatory syndrome due to A20 haploinsufficiency,Disease,Disorder,4A60.Y,0800045,,616744,C5925090,,,
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
673543,Papillary hemangioma,Disease,Disorder,,0975753,,,C5925092,,,
101030,Subependymal nodular heterotopia,Clinical subtype,Subtype of disorder,LA05.5Y,0015094,Q04.8,,C3160906,,10071150,5050
101029,Sub-cortical nodular heterotopia,Clinical subtype,Subtype of disorder,LA05.5Y,0015093,Q04.8,,C5681805,,,19775
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
685067,Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome,Disease,Disorder,LD27.0Y,,Q82.4,618180,,,,
685082,Pediatric acute respiratory distress syndrome,Disease,Disorder,CB00,,,,,,,
685017,Combined immunodeficiency due to TBX1 deficiency,Disease,Disorder,,,D81.8,188400,,,,
100982,Autosomal recessive pure spastic paraplegia,Clinical group,Group of disorders,,,,,C5680376,,,19773
100981,Autosomal recessive complex spastic paraplegia,Clinical group,Group of disorders,,,,,C5680377,,,19772
685004,Primary pericardial mesothelioma,Disease,Disorder,,,,,,,,
100980,Autosomal dominant pure spastic paraplegia,Clinical group,Group of disorders,,,,,C5680378,,,19771
685010,Mesothelioma of the tunica vaginalis,Disease,Disorder,,,,,,,,
100979,Autosomal dominant complex spastic paraplegia,Clinical group,Group of disorders,,0015087,,,C5680379,,,19770
100978,Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,Malformation syndrome,Disorder,LD24.GY,0015086,Q87.5,,C5190852,,,853
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,,,,,
686475,Post-selective serotonin reuptake inhibitor sexual dysfunction,Disease,Disorder,,,F52.8,,,,,
100991,Autosomal dominant spastic paraplegia type 10,Disease,Disorder,8B44.00,0011408,G11.4,604187,C1858712,C537482,,9590
100990,OBSOLETE: Autosomal dominant spastic paraplegia type 9,Disease,Disorder,,,,,,,,
686462,Non-fibrotic hypersensitivity pneumonitis,Clinical subtype,Subtype of disorder,,,,,,,,
686465,Fibrotic hypersensitivity pneumonitis,Clinical subtype,Subtype of disorder,,,,,,,,
100989,Autosomal dominant spastic paraplegia type 8,Disease,Disorder,8B44.00,0011339,G11.4,603563,C1863704,C580458,,9591
100988,Autosomal dominant spastic paraplegia type 6,Disease,Disorder,8B44.00,0010878,G11.4,600363,C1838192,C536866,,4928
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
100985,Autosomal dominant spastic paraplegia type 4,Disease,Disorder,8B44.00,0008438,G11.4,182601,C1866855,C536865,,4925
687424,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion,Etiological subtype,Subtype of disorder,,,,616083,,,,
100999,Autosomal dominant spastic paraplegia type 19,Disease,Disorder,8B44.00,0011785,G11.4,607152,C1846685,C536856,,9588
101000,Autosomal recessive spastic paraplegia type 20,Disease,Disorder,8B44.01,0010156,G11.4,275900,C0393559,C536858,,5372
686999,Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome,Disease,Disorder,,,,620683,,,,
100997,X-linked spastic paraplegia type 16,Disease,Disorder,8B44.02,0010287,G11.4,300266,C1846046,C536643,,9585
686556,Isolated congenital cholesteatoma of the middle ear,Morphological anomaly,Disorder,,,,,,,,
100998,Autosomal dominant spastic paraplegia type 17,Disease,Disorder,8B44.00,0010043,G11.4,270685,C2931276,C536644,,4219
100995,Autosomal recessive spastic paraplegia type 14,Disease,Disorder,8B44.01,0011522,G11.4,605229,C1854568,C537486,,9589
686495,MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome,Disease,Disorder,,,,619004,,,,
100996,Kjellin syndrome,Disease,Disorder,8B44.01,0010044,G11.4,270700,C1849128,C536642,,9581
686488,RNU4-2-related autosomal dominant neurodevelopmental disorder,Malformation syndrome,Disorder,,,,620851,,,,
100993,Autosomal dominant spastic paraplegia type 12,Disease,Disorder,8B44.00,0011489,G11.4,604805,C1858106,C537484,,9586
686482,BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome,Malformation syndrome,Disorder,,,Q87.8,617755,,,,
100994,Autosomal dominant spastic paraplegia type 13,Disease,Disorder,8B44.00,0011532,G11.4,605280,C1854467,C537485,,9616
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
688543,Reticular dysgenesis-like severe combined immunodeficiency,Disease,Disorder,,,D81.0,,,,,
101008,Autosomal recessive spastic paraplegia type 28,Disease,Disorder,8B44.01,0012256,G11.4,609340,C1836295,C563732,,16941
688523,Splenic venous malformation,Disease,Disorder,,,D73.8,,,,,
101005,Autosomal recessive spastic paraplegia type 25,Disease,Disorder,8B44.01,0011992,G11.4,608220,C2936860,C536861,,9582
101006,Autosomal recessive spastic paraplegia type 26,Disease,Disorder,8B44.01,0012213,G11.4,609195,C1836632,C536862,,9587
687741,Multisystem Langerhans cell histiocytosis,Clinical subtype,Subtype of disorder,,,C96.0,,,,,
687738,Single-system multifocal Langerhans cell histiocytosis,Clinical subtype,Subtype of disorder,,,C96.5,,,,,
101003,Autosomal recessive spastic paraplegia type 23,Disease,Disorder,8B44.01,0010046,G11.4,270750,C0796019,C536859,,336
687733,Pulmonary Langerhans cell histiocytosis,Clinical subtype,Subtype of disorder,,,C96.5,,,,,
101004,Autosomal recessive spastic paraplegia type 24,Disease,Disorder,8B44.01,0011862,G11.4,607584,C1843569,C564375,,9296
687730,Unifocal Langerhans cell histiocytosis,Clinical subtype,Subtype of disorder,,,,,,,,
101001,Autosomal recessive spastic paraplegia type 21,Disease,Disorder,8B44.01,0009568,G11.4,248900,C1855346,C565409,,16939
687695,10p13-p14 deletion syndrome,Malformation syndrome,Disorder,,,Q93.5,601362,,,,
675822,Well-differentiated papillary mesothelial tumour of the pleura,Disease,Disorder,,0971140,,,C5925093,,,
100088,Rare thyroid carcinoma,Category,Group of disorders,,,,,C5816697,,,
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
675775,Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome,Disease,Disorder,,0971137,,620939,C5925096,,,
100084,Middle ear neuroendocrine tumor,Disease,Disorder,2F00.0,0015071,C30.1,,C4305468,,,19759
675782,Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN,Disease,Disorder,,0971138,,620937,C5925097,,,
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
676039,Combined immunodeficiency due to FOXN1 haploinsufficiency,Disease,Disorder,,,D81.8,618806,C5925099,,,
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,,,
675976,Adenomatoid tumour of the peritoneum,Disease,Disorder,,,,,C5925148,,,
100093,Carcinoid syndrome,Clinical syndrome,Disorder,5B10,0100347,E34.0,,C0024586,D008303,10007270,5994
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,,,
684216,Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome,Malformation syndrome,Disorder,,,,618798,,,,
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,,,,
100973,FRAXE intellectual disability,Disease,Disorder,LD90.Y,0010659,Q99.2,309548,C4274328,,,2378
100974,FRAXF syndrome,Disease,Disorder,,0015084,Q99.2,,C4274329,,,
684290,Hypertrophic olivary degeneration,Disease,Disorder,,,,,,,,
684752,Isolated anal canal duplication,Morphological anomaly,Disorder,,,,,,,,
684742,2q13 microdeletion syndrome,Malformation syndrome,Disorder,LD44.20,,Q93.5,,,,,
100976,Bathing suit ichthyosis,Disease,Disorder,EC20.02,0015085,Q80.2,242300,C4511230,,,
684232,Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome,Malformation syndrome,Disorder,,,,619229,,,,
684226,Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome,Malformation syndrome,Disorder,,,,617788,,,,
684247,Isolated growth hormone deficiency type IV,Clinical subtype,Subtype of disorder,,,,618157,,,,
684240,Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome,Malformation syndrome,Disorder,,,,619125,,,,
100054,F12-related hereditary angioedema with normal C1Inh,Clinical subtype,Subtype of disorder,4A00.14,0012526,T78.3,610618,C1857728,D056828,,
100051,Hereditary angioedema type 2,Etiological subtype,Subtype of disorder,4A00.14,0015054,D84.1,106100,C0398776,,,
100057,Renin-angiotensin-aldosterone system-blocker-induced angioedema,Disease,Disorder,EH61.1,0015057,T78.3,300909,C1268945,,,
692173,Marbach-Schaaf neurodevelopmental syndrome,Disease,Disorder,,,,619680,,,,
100056,Acquired angioedema type 1,Clinical subtype,Subtype of disorder,4A00.15,0015056,T78.3,,C5680380,,,
100055,Acquired angioedema type 2,Clinical subtype,Subtype of disorder,4A00.15,0015055,T78.3,,C5680381,,,
692271,Cerebral proliferative angiopathy,Disease,Disorder,,,,,,,,
692296,Idiopathic triglyceride deposit cardiomyovasculopathy,Etiological subtype,Subtype of disorder,,,,,,,,
692193,CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome,Malformation syndrome,Disorder,,,,616579,,,,
692256,Isolated anogenital granulomatosis,Disease,Disorder,,,,,,,,
692812,RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome,Disease,Disorder,,,,618987,,,,
693549,Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome,Malformation syndrome,Disorder,,,,618774,,,,
692305,Triglyceride deposit cardiomyovasculopathy,Disease,Disorder,,,,,,,,
692790,ATP6AP1-CDG,Disease,Disorder,,,,300972,,,,
100069,Semantic dementia,Disease,Disorder,6D83,0010857,G31.0,600274,C0338462,,,10792
693627,Agammaglobulinemia-skin involvement-failure to thrive syndrome,Disease,Disorder,,,,619693,,,,
100070,Progressive non-fluent aphasia,Disease,Disorder,6D83,0015059,G31.0,600274,C0751706,D057178,10029542,10793
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,,,,
100073,Neurogenic thoracic outlet syndrome,Clinical subtype,Subtype of disorder,8B91.Y,0015061,G54.0,,C0751549,,,
100075,Neuroendocrine tumor of stomach,Disease,Disorder,2B72.1,0003111,C16.9,,C1333783,,,
693661,Activated PI3K-delta syndrome 1,Disease,Disorder,,,,615513,,,,
100071,Mosaic trisomy 3 syndrome,Malformation syndrome,Disorder,LD40.Y,0015060,Q92.1,,C4707012,,,5342
693647,Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome,Disease,Disorder,,,,619705,,,,
100072,OBSOLETE: True vascular thoracic outlet syndrome,Disease,Disorder,,,,,,,,
100078,Ileal neuroendocrine tumor,Disease,Disorder,2B80.11,0015065,C17.2,,C4081841,,,
693832,Gastrointestinal tract arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,
693826,Pancreatic arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,
100079,Neuroendocrine neoplasm of appendix,Disease,Disorder,2B81.2,0015066,D37.3,,C1879718,,,
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,,,,,,,,
100082,Neuroendocrine tumor of anal canal,Disease,Disorder,2C00.2,0015069,C21.1,,C3272849,,,
693863,Splenic arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,
693855,Visceral arteriovenous malformation,Clinical group,Group of disorders,,,,,,,,
100083,Laryngeal neuroendocrine tumor,Disease,Disorder,2F00.2,0015070,C32.1,,C5681809,,,
100080,Neuroendocrine tumor of the colon,Disease,Disorder,2B90.Y,0002882,C18.8,,C1333097,,,
693846,Hepatic arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,
693839,Renal arteriovenous malformation,Malformation syndrome,Disorder,,,,,,,,
100081,Neuroendocrine tumor of the rectum,Disease,Disorder,2B92.1,0003646,C20,,C5554035,,10085767,
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,,,
100019,Myelodysplastic neoplasm with increased blasts type 1,Clinical subtype,Subtype of disorder,2A35,0015040,D46.2,,C1318550,,,
688581,Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome,Malformation syndrome,Disorder,,,H90.3,300990,,,,
688594,Combined immunodeficiency due to RELB deficiency,Disease,Disorder,,,D81.8,617585,,,,
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,,,,
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,,,
688649,Isolated adrenal medullary hyperplasia,Disease,Disorder,,,,,,,,
100026,Gamma-heavy chain disease,Clinical subtype,Subtype of disorder,2A84.1,0015046,C88.2,,C0018854,,,10346
100025,Alpha-heavy chain disease,Clinical subtype,Subtype of disorder,XH1Y65,0015045,C88.3,,C0021071,D007161,,
688995,Scarlet fever,Disease,Disorder,1B50,,A38,,,,,
689001,Isolated spontaneous cervical artery dissection,Disease,Disorder,,,,,,,,
689021,Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome,Disease,Disorder,,,G71.8,,,,,
100032,Hypocalcified amelogenesis imperfecta,Clinical subtype,Subtype of disorder,LA30.6,0968955,K00.5,617607,C0399376,C562880,,
100031,Hypoplastic amelogenesis imperfecta,Clinical subtype,Subtype of disorder,LA30.6,0015047,K00.5,617297,C0399367,C538240,,645
100034,Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,Clinical subtype,Subtype of disorder,LA30.6,0007093,K00.5,104510,C0399373,,,
100033,Hypomaturation amelogenesis imperfecta,Clinical subtype,Subtype of disorder,LA30.6,0015048,K00.5,617217,C0399372,C536606,,8349
689231,IFIH1-related hereditary spastic paraplegia,Disease,Disorder,,,,615846,,,,
100035,Solitary necrotic nodule of the liver,Disease,Disorder,DB99.Y,0015049,K76.8,,C2960192,,,
689234,RNASEH2B-related hereditary spastic paraplegia,Disease,Disorder,,,,610181,,,,
689401,Acquired hypothalamic obesity,Disease,Disorder,,,E22.8,,,,,
689397,Poirier-Bienvenu neurodevelopmental syndrome,Malformation syndrome,Disorder,,,,618732,,,,
100039,Familial pseudohyperkalemia type 1,Clinical subtype,Subtype of disorder,,,,,,,,
689408,Shashi-Pena syndrome,Malformation syndrome,Disorder,,,Q87.8,617190,,,,
100040,OBSOLETE: Familial pseudohyperkalemia type 2,Clinical subtype,Subtype of disorder,,,,,,,,
689430,Adenoid ameloblastoma,Disease,Disorder,2E83.1,,D16.4,,,,,
100041,"OBSOLETE: Familial pseudohyperkalemia, Cardiff type",Clinical subtype,Subtype of disorder,,,,,,,,
689422,Okur-Chung neurodevelopmental syndrome,Malformation syndrome,Disorder,,,Q87.8,617062,,,,
100043,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,Disease,Disorder,8C20.2,0011675,G60.0,606483,C1847896,C564702,,
100044,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,Disease,Disorder,8C20.2,0011674,G60.0,606482,C1847902,C564703,,
100045,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,Disease,Disorder,8C20.2,0012012,G60.0,608323,C1842237,C564257,,
689829,Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome,Disease,Disorder,,,Q11.2,615524,,,,
100046,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,Disease,Disorder,8C20.2,0011909,G60.0,607791,C1843075,C564333,,
689822,Structural heart defects-renal anomalies syndrome,Malformation syndrome,Disorder,LA88.Y,,Q21.8,617478,,,,
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,,,,
100016,Lissencephaly with cerebellar hypoplasia type F,Malformation syndrome,Disorder,LD20.1,0015039,Q04.3,,C4274989,,,
100015,Lissencephaly with cerebellar hypoplasia type E,Malformation syndrome,Disorder,LD20.1,0015038,Q04.3,,C5191422,,,
647667,Mandibuloacral dysplasia associated to MTX2,Malformation syndrome,Disorder,,0030880,Q87.5,619127,C5436867,,,
647676,Multiple epiphyseal dysplasia type 7,Disease,Disorder,,0054680,Q77.3,617719,C4540251,,,
646113,Intermediate collagen VI-related muscular dystrophy,Disease,Disorder,8C70.6,0958353,G71.2,158810,C5816698,,,
100012,Lissencephaly with cerebellar hypoplasia type B,Malformation syndrome,Disorder,LD20.1,0015035,Q04.3,,C4274993,,,
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,,,
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,,,
646278,CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome,Disease,Disorder,LD90.Y,0044302,Q87.8,617360,C5816700,,,
100013,Lissencephaly with cerebellar hypoplasia type C,Malformation syndrome,Disorder,LD20.1,0015036,Q04.3,,C4274992,,,
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,,,
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
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,,,
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,
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,,,
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,
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,
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,,,
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,,,
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
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,
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,
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,,,
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,
645282,Anomaly of the filum,Clinical group,Group of disorders,,,,,C5816730,,,
99970,Dedifferentiated liposarcoma,Histopathological subtype,Subtype of disorder,,0020563,C49.9,,C0205824,,10073135,
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,,
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,
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,,,
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
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
643549,Hao-Fountain syndrome,Disease,Disorder,,0014805,Q87.0,616863,C5393908,,,
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,,,
99955,Charcot-Marie-Tooth disease type 4B1,Disease,Disorder,8C20.0,0011066,G60.0,601382,C1832399,C535420,,
99956,Charcot-Marie-Tooth disease type 4B2,Disease,Disorder,8C20.0,0011475,G60.0,604563,C1858278,C535421,,9200
99948,Charcot-Marie-Tooth disease type 4A,Disease,Disorder,8C20.0,0008961,G60.0,214400,C1859198,C535419,,
99947,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,Disease,Disorder,8C20.1,0012231,G60.0,609260,C4721887,,,
99950,Charcot-Marie-Tooth disease type 4D,Disease,Disorder,8C20.0,0011085,G60.0,601455,C1832334,C535716,,
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,,
99952,Charcot-Marie-Tooth disease type 4F,Disease,Disorder,8C20.0,0013959,G60.0,614895,C2608082,,,
99951,Charcot-Marie-Tooth disease type 4E,Disease,Disorder,8C20.0,0011527,G60.0,605253,C4721437,C535301,,
99954,Charcot-Marie-Tooth disease type 4H,Disease,Disorder,8C20.0,0012250,G60.0,609311,C1836336,C563740,,
99953,Charcot-Marie-Tooth disease type 4G,Disease,Disorder,8C20.0,0011534,G60.0,605285,C1854449,C535813,,10132
648992,Non-syndromic bridging bronchus,Morphological anomaly,Disorder,,0958267,Q32.4,,C5816737,,,
99940,Autosomal dominant Charcot-Marie-Tooth disease type 2F,Disease,Disorder,8C20.1,0011687,G60.0,606595,C1847823,C535413,,9194
99939,Autosomal dominant Charcot-Marie-Tooth disease type 2E,Disease,Disorder,8C20.1,0011894,G60.0,607684,C1843225,C537994,,
649010,Non-syndromic congenital bronchial atresia,Morphological anomaly,Disorder,,0958268,Q32.4,,C5816738,,,
99942,Autosomal dominant Charcot-Marie-Tooth disease type 2I,Disease,Disorder,8C20.1,0011889,G60.0,607677,C3888087,C535416,,
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,,
649029,Isolated left bronchial isomerism,Morphological anomaly,Disorder,,958269,Q32.4,,C5816741,,,
99943,Autosomal dominant Charcot-Marie-Tooth disease type 2J,Disease,Disorder,8C20.1,0011903,G60.0,607736,C1843153,C535417,,
99946,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,Disease,Disorder,8C20.1,0007308,G60.0,118210,C1861678,C566138,,1248
99945,Autosomal dominant Charcot-Marie-Tooth disease type 2L,Disease,Disorder,8C20.1,0012096,G60.0,608673,C4304673,,,
99931,Idiopathic pulmonary hemosiderosis,Disease,Disorder,CB04.30,,J99.8*,235500,C0020807,C536281,,6763
648684,Central retinal artery occlusion,Disease,Disorder,9B74.0,0001633,H34.1,,C0007688,,,
99932,Heiner syndrome,Disease,Disorder,CB05.5,0020554,J99.8*,,C3873343,,,
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
99937,Autosomal dominant Charcot-Marie-Tooth disease type 2C,Disease,Disorder,8C20.1,0011633,G60.0,606071,C1853710,C565261,,
99938,Autosomal dominant Charcot-Marie-Tooth disease type 2D,Disease,Disorder,8C20.1,0011091,G60.0,601472,C1832274,C537993,,
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,,
648569,Non-HFE-related hemochromatosis,Clinical group,Group of disorders,,,,,C5816745,,,
99926,Gestational choriocarcinoma,Disease,Disorder,2C75.0,0020550,C58,,C0349557,,,
648665,Infectious scleritis,Disease,Disorder,9B51,958264,H15.0,,C5816746,,,
99927,Hydatidiform mole,Disease,Disorder,JA02,0006248,O01.9,614293,C0020217,D006828,10020481,10263
99928,Placental site trophoblastic tumor,Disease,Disorder,XH1RM5,0020552,D39.2,,C0206666,D018245,,7403
648681,Immune-mediated scleritis,Disease,Disorder,9B51,0958266,H15.0,,C5578029,,10087281,
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,
99917,"Theca steroid-producing cell malignant tumor of ovary, not further specified",Disease,Disorder,2C73.Y,0020543,C56,,C4274494,,,
99916,Malignant Sertoli-Leydig cell tumor of the ovary,Disease,Disorder,2C73.Y,0020542,C56,,C5574973,,,5495
99915,Malignant granulosa cell tumor of the ovary,Disease,Disorder,2C73.2,0020541,C56,,C0346175,D006106,,
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
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,
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,,,
647815,Keratitis fugax hereditaria,Disease,Disorder,9C61.25,0007849,H16.8,148200,C1835697,,,
99901,Acyl-CoA dehydrogenase 9 deficiency,Disease,Disorder,5C52.01,0012624,E71.3,611126,C1970173,C567006,10081518,
647811,Cardiac-urogenital syndrome,Disease,Disorder,,0032653,Q87.8,618280,C4748946,,,
647804,Combined immunodeficiency due to FCHO1 deficiency,Disease,Disorder,,0030898,D81.8,619164,C5816748,,,
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,,,
99906,OBSOLETE: Farmer's lung disease,Disease,Disorder,,,,,,,,
647834,SLC40A1-related hemochromatosis,Disease,Disorder,5C64.10,0011631,E83.1,606069,C5816749,,,
99903,Spirillary rat-bite fever,Etiological subtype,Subtype of disorder,1B90.0,0020532,A25.0,,C0152062,,,
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,,,
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
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,
656283,Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency,Disease,Disorder,,958115,D82.4,619751,C5925103,,,
656279,1p36.33 duplication syndrome,Disease,Disorder,LD41.01,0032933,Q92.3,618815,C5925104,,,
99880,Hyperparathyroidism-jaw tumor syndrome,Disease,Disorder,5A51.0,0007768,E21.0,145001,C1704981,,,10829
656313,Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency,Disease,Disorder,,958117,D82.4,619752,C5925105,,,
656300,Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency,Disease,Disorder,,958116,D82.4,618523,C5925106,,,
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,,,
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,,,
99887,Acute megakaryoblastic leukemia in children with Down syndrome,Clinical subtype,Subtype of disorder,2A60.41,0020526,C94.2,,C5925108,,,
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,,,
99889,Cushing syndrome due to ectopic ACTH secretion,Disease,Disorder,5A70.1,0020527,E24.3,,C0001231,,,
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,,,
99885,Isolated permanent neonatal diabetes mellitus,Disease,Disorder,KB60.2Y,0100164,P70.2,618857,C1833104,C563425,,10457
99886,Transient neonatal diabetes mellitus,Disease,Disorder,KB60.20,,P70.2,610582,C0342273,,,1839
99864,OBSOLETE: Classic seminoma,Clinical subtype,Subtype of disorder,,,,,,,,
653712,CHD4-related neurodevelopmental disorder,Disease,Disorder,,0014946,Q87.8,617159,C4310688,,,
653722,Digenic Alport syndrome,Clinical subtype,Subtype of disorder,,0958104,,,C5925113,,,
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,,,
99865,Spermatocytic seminoma,Disease,Disorder,XH80D1,0020513,C62.9,273300,C0334517,,10073118,
653728,"Congenital insensitivity to pain syndrome, Marsili type",Disease,Disorder,,0958106,G90.8,147430,C4538468,,,
99860,Precursor B-cell acute lymphoblastic leukemia,Disease,Disorder,2A70,0020511,C91.0,615545,C0349636,,10066109,
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,,
653709,Cone rod dystrophy-short stature syndrome,Disease,Disorder,9B70,,H35.5,617547,C5925115,,,
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,,,,,
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,
653751,X-linked combined immunodeficiency due to SASH3 deficiency,Disease,Disorder,,0024781,D81.8,301082,C5925116,,,
99867,Thymoma,Disease,Disorder,2C27.Y,0006456,D15.0,274230,C0040100,D013945,10043670,
653767,Jansen-de Vries syndrome,Disease,Disorder,,0044318,Q87.0,617450,C4479517,,,
653880,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,Disease,Disorder,,14563,E71.1,616277,C4225391,,,
99870,OBSOLETE: Letterer-Siwe disease,Clinical subtype,Subtype of disorder,,,,,,,,
99869,Thymic neuroendocrine carcinoma,Disease,Disorder,2C27.1,0020516,C37,,C2210965,,,
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
652514,Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation,Clinical subtype,Subtype of disorder,,0958273,,600987,C5925117,,,
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,,,
99845,Genetic recurrent myoglobinuria,Disease,Disorder,5C5Y,0020504,R82.1,550500,C4274324,,,
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,,
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
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,,
99857,Secondary syringomyelia,Disease,Disorder,8D66.1,0020509,G95.0,,C4749399,,,
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,
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,,,
99854,Cree leukoencephalopathy,Clinical subtype,Subtype of disorder,8A44.3,,E75.2,603896,,,,
652528,Supernumerary kidney,Morphological anomaly,Disorder,LB30.5,0958093,Q63.0,,C5925122,,,
99852,Ravine syndrome,Disease,Disorder,8A44.3,0020505,E75.2,,C4275006,,,
652522,Periodic fever-immunodeficiency-thrombocytopenia syndrome,Disease,Disorder,,0007883,D84.8,150550,,,,
99832,Resistance to thyrotropin-releasing hormone syndrome,Disease,Disorder,5A00.01,0032819,E03.1,618573,C1861106,,,
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
99828,Dengue fever,Disease,Disorder,1D22,0005502,A97.1,614371,C0011311,D003715,10012310,6254
99827,Crimean-Congo hemorrhagic fever,Disease,Disorder,1D49,0020501,A98.0,,C0019099,D006479,10010685,
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
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
660017,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome,Disease,Disorder,,0859257,G24.1,619911,C5925123,,,
660012,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation,Etiological subtype,Subtype of disorder,,0971062,,619911,C5925124,,,
99812,LIG4 syndrome,Disease,Disorder,4A01.1Y,0011686,D81.1,606593,C1847827,C564694,,
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,,,
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,,,
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,,,
99819,Familial gestational hyperthyroidism,Disease,Disorder,5A02.Y,0011309,E05.8,603373,C1863959,C566384,,
662169,Phelan-McDermid syndrome due to 22q13.3 deletion,Etiological subtype,Subtype of disorder,LD44.NY,0971068,Q93.5,606232,C1853490,,,
662179,Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,,0032942,Q87.0,618828,C5394218,,,
662175,Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome,Malformation syndrome,Disorder,,0032943,Q87.0,618829,C5394221,,,
662189,Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome,Malformation syndrome,Disorder,,0859297,Q87.0,620073,C5925129,,,
662184,Congenital muscular dystrophy-cataract-intellectual disability syndrome,Disease,Disorder,,0024607,G71.0,617404,C5925130,,,
99824,Lassa fever,Disease,Disorder,1D61.2,0005820,A96.2,,C0023092,D007835,10023927,
662198,Neurodevelopmental delay-intellectual disability-skeletal defects syndrome,Malformation syndrome,Disorder,,0010512,Q87.5,300986,C5925131,,,
99825,Nipah virus disease,Disease,Disorder,1D63,0020499,A98.8,,C1320202,,,
99826,Marburg hemorrhagic fever,Disease,Disorder,1D60.1,0020500,A98.3,,C0024788,D008379,10026822,9444
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
659712,Rare yersiniosis,Category,Group of disorders,,,,,C5925132,,,
99798,Oligodontia,Morphological anomaly,Disorder,LA30.2,5486,K00.0,610926,C4082304,,10088239,
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,
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
659873,Wormian bones-micrognathia-abnormal dentition-progeroid syndrome,Malformation syndrome,Disorder,,0859147,Q87.5,619322,C5543388,,,
99803,Haddad syndrome,Malformation syndrome,Disorder,LD2F.1Y,0020493,G47.3,209880,C1859049,,,
99806,Oculootodental syndrome,Malformation syndrome,Disorder,,0020494,K07.8,166750,C2750325,,,
659904,Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome,Malformation syndrome,Disorder,,0971007,Q87.8,619539,C5925133,,,
99807,PEHO-like syndrome,Disease,Disorder,,0020495,G93.4,617507,C1850056,,,
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
659975,Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome,Malformation syndrome,Disorder,,0859206,H91.8,619616,C5925134,,,
659396,Cohen-Gibson syndrome,Malformation syndrome,Disorder,,60510,Q87.3,617561,C4479654,,,
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,,,
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,,,
659463,Imagawa-Matsumoto syndrome,Malformation syndrome,Disorder,,32916,Q87.3,618786,C5394073,,,
659672,Harderoporphyria,Disease,Disorder,5C58.1Y,30048,E80.2,618892,C0342859,,,
99789,Dentin dysplasia type I,Clinical subtype,Subtype of disorder,LA30.7,0007436,K00.5,,C0399379,C538215,,1807
659642,Rauch-Steindl syndrome,Malformation syndrome,Disorder,,859219,,619695,C5562061,,,
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,,,
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
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
658584,Rowell syndrome,Disease,Disorder,4A40.0Y,0041186,M32.8,,C0406637,,,
658590,Eyelid sebaceous carcinoma,Disease,Disorder,2C33,21588,D04.1,,C5925141,,,
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,,,
658595,DNMT3A-related microcephalic dwarfism,Malformation syndrome,Disorder,,0032882,Q87.1,618724,C5231475,,,
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,,,
658843,Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome,Malformation syndrome,Disorder,,,Q87.0,617330,C5925144,,,
99772,Cleft velum,Morphological anomaly,Disorder,LA42.1,0007338,Q35.3,119570,C0432098,C562950,,
658805,Greig cephalopolysyndactyly-contiguous gene syndrome,Malformation syndrome,Disorder,,958130,Q87.0,175700,C5925145,,,
658810,Atrophoderma of Pasini and Pierini,Disease,Disorder,EE7Y,0022513,L90.3,,C3887897,,10066406,
99771,Bifid uvula,Morphological anomaly,Disorder,LA42.2,0008637,Q35.7,,C4551488,,,
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,,,
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
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,,,
631076,Autosomal recessive spastic paraplegia type 83,Disease,Disorder,8B44.01,0033614,G11.4,619027,C5816768,,,
631079,Autosomal recessive spastic paraplegia type 84,Disease,Disorder,8B44.01,0858989,G11.4,619621,C5816769,,,
631082,Autosomal recessive spastic paraplegia type 85,Disease,Disorder,8B44.01,0858990,G11.4,619686,C5816770,,,
631068,Autosomal dominant spastic paraplegia type 80,Disease,Disorder,8B44.00,0032737,G11.4,618418,C5816771,,,
631106,Spinocerebellar ataxia type 49,Disease,Disorder,8A03.16,0030805,G11.4,619806,C5816772,,,
631103,Spinocerebellar ataxia type 48,Disease,Disorder,8A03.16,0032526,G11.4,618093,C5816773,,,
631095,Spinocerebellar ataxia type 44,Disease,Disorder,8A03.16,0033479,G11.4,617691,C5816774,,,
631088,Autosomal recessive spastic paraplegia type 87,Disease,Disorder,8B44.01,0858992,G11.4,,C5816775,,,
631085,Autosomal recessive spastic paraplegia type 86,Disease,Disorder,8B44.01,0858991,G11.4,619735,C5816776,,,
631251,Cancer of unknown primary site,Disease,Disorder,,0858997,C80.0,,C0220647,,,
631248,Mitchell Syndrome,Disease,Disorder,,0030073,G60.8,618960,C5394554,,,
626609,Rare andrological tumor,Category,Group of disorders,,,,,C5816777,,,
634475,Mosaic NF2-related schwannomatosis,Disease,Disorder,LD2D.11,0859764,Q85.0,101000,C5816778,,,
634492,Mosaic schwannomatosis,Disease,Disorder,,0859765,Q85.0,,C5816779,,,
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,,,
633228,Isolated proximal femoral focal deficiency,Morphological anomaly,Disorder,,0859006,Q74.8,,C0431996,,,
637064,Isolated optic nerve aplasia,Morphological anomaly,Disorder,LA13.71,958342,Q07.8,,C5816782,,,
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,,,
636965,Autosomal dominant myosin storage myopathy,Clinical subtype,Subtype of disorder,8C72.0Y,0008409,G72.8,608358,C5848107,,,
637051,Borna virus encephalitis,Disease,Disorder,1C80,0957421,A85.8,,C5816783,,,
637013,SMARCA2-related blepharophimosis-intellectual disability syndrome,Malformation syndrome,Disorder,,0859139,Q87.0,619293,C5816784,,,
636945,Invasive candidiasis,Disease,Disorder,1F23.3,0044067,B37.8,,C0153252,C536777,,
636941,Vascular Ehlers-Danlos-polymicrogyria syndrome,Disease,Disorder,LD28.1Y,0032688,Q79.6,618343,C5816785,,,
636955,Endemic pemphigus foliaceus,Disease,Disorder,EB40.1,43257,L10.3,,C0263314,C535551,,
636950,Glaucomatocyclitic crisis disease,Disease,Disorder,9C61.24,0004772,H40.4,,C0152138,,,
641613,Endogenous Cushing syndrome,Category,Group of disorders,,0957431,,,C5419158,,,
641829,Neonatal compartment syndrome,Clinical syndrome,Disorder,NF0A.6,0957432,P01.8,,C5782100,,,
641496,Childhood-onset schizophrenia,Disease,Disorder,,0957430,F20.5,,C0036346,D012561,,
641390,PsAPASH syndrome,Disease,Disorder,EB21,0958257,L88,,C5816786,,,
641396,Central nervous system tuberculosis,Disease,Disorder,1B11,0005696,G63.0*,,C0275904,D020306,10061391,
641380,PAPASH syndrome,Disease,Disorder,EB21,0958343,L88,,C5816787,,,
641385,PASS syndrome,Disease,Disorder,EB21,0958256,L88,,C5816788,,,
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,,,
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,,,
641361,Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome,Disease,Disorder,,0859200,G11.1,619576,C5816792,,,
641343,Imprinting disorders,Clinical group,Group of disorders,,,,,C5816793,D000096803,,
641350,Immunotherapy induced hypophysitis,Disease,Disorder,5A61.0,0957423,E23.1,,C5816794,,,
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,,,
642954,Autosomal recessive ataxia due to PEX16 deficiency,Disease,Disorder,8A03.1Y,0957442,G11.8,,C5816797,,,
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,,,
642747,PUM1-related cerebellar ataxia,Disease,Disorder,8A03.1Y,0033482,G11.2,617931,C5816800,,,
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,,,
642671,Familial hyperaldosteronism type IV,Disease,Disorder,5A72.0,0014875,E26.0,617027,C4310756,,,
642099,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",Disease,Disorder,LD24.3,0010075,Q77.7,271640,C4017377,,,
642085,EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity,Disease,Disorder,LD24.3,0032724,Q77.7,618395,C5193073,,,
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,,,
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,,,
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,,,
633004,KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome,Disease,Disorder,,0858999,Q87.8,618846,C5394263,,,
633014,SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome,Disease,Disorder,LD90.Y,0859000,Q87.8,619083,C5816806,,,
633211,Preaxial digit brachydactyly-webbed fingers,Malformation syndrome,Disorder,,0859005,Q73.8,,C5816807,,,
633124,Invasive scopulariopsis infection,Disease,Disorder,1F2Y,0859004,B48.7,,C5816808,,,
633035,Intellectual disability-early-onset cataract-microcephaly syndrome,Malformation syndrome,Disorder,,0859002,Q87.8,619255,C5543241,,,
633028,CPE-related Prader-Willi-like syndrome,Disease,Disorder,,0859001,Q87.8,,C5543403,,,
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,,,
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,,,
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,,,
615954,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,Clinical syndrome,Disorder,LD20.0Y,0032931,Q04.8,618810,C5680387,,,
615964,Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,Disease,Disorder,,0032716,G93.4,618384,C5193068,,,
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,
617440,Painful legs and moving toes syndrome,Clinical syndrome,Disorder,,0850049,G25.8,,C5680388,,10089938,12706
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,,
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,,,
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,,,
617297,Twin-reversed arterial perfusion sequence,Disease,Disorder,KA02.4,0850014,O43.0,,C5575500,,,
621758,Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,Disease,Disorder,CB0Y,0850090,G31.8,618278,C4748939,,,
620371,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,Disease,Disorder,GB90.4Y,0850089,E88.8,,C5680390,,,
620368,EGF-related primary hypomagnesemia with intellectual disability,Disease,Disorder,GB90.4Y,0850088,E83.4,,C5681825,,,
620363,Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,Disease,Disorder,GB90.4Y,0850087,E83.4,616418,C5681826,,,
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,,,
620212,Non-syndromic pansynostosis,Morphological anomaly,Disorder,LB70.0Y,0850084,Q75.0,,C5680392,,,
620192,Non-syndromic metopic and sagittal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850081,Q75.0,,C5680393,,,
620198,Non-syndromic bicoronal and metopic craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850082,Q75.0,,C5680394,,,
620178,Non-syndromic bilambdoid craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850079,Q75.0,,C5680395,,,
620186,Non-syndromic unicoronal and sagittal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850080,Q75.0,,C5680396,,,
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,,,
620139,Non-syndromic unifrontosphenoidal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850075,Q75.0,,C5680399,,,
620146,Non-syndromic unisquamosal craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850076,Q75.0,,C5680400,,,
620102,Non-syndromic unicoronal craniosynostosis,Morphological anomaly,Disorder,LB70.00,0850073,Q75.0,,C5680401,,,
620113,Non-syndromic unilambdoid craniosynostosis,Morphological anomaly,Disorder,LB70.0Y,0850074,Q75.0,,C5680402,,,
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,,,
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,,,
624190,Paraneoplastic isolated brainstem encephalitis,Disease,Disorder,8E4A.0,0850104,G04.8,,C5680406,,,
624244,Postinfectious cerebellitis,Disease,Disorder,,0850107,G04.8,,C5575321,,,
624216,Non-specific autoimmune brainstem encephalitis without characteristic antibodies,Disease,Disorder,,0850106,G04.8,,C5680407,,,
623789,Body integrity dysphoria,Disease,Disorder,6C21,0850100,F45.2,,C4546282,,,
623801,Acute flaccid myelitis,Disease,Disorder,,0100115,G04.8,,C4290000,C000629404,10082097,13142
624166,Non-specific autoimmune supratentorial encephalitis with characteristic antibodies,Disease,Disorder,,0850102,G04.8,,C5680408,,,
624178,Non-specific autoimmune supratentorial encephalitis without characteristic antibodies,Disease,Disorder,,0850103,G04.8,,C5680409,,,
623615,Autoimmune limbic encephalitis,Disease,Disorder,8E4A.0,0850097,G04.8,,C2930824,C531729,,
623626,Paraneoplastic cerebellar degeneration,Disease,Disorder,8E4A.0,0044877,G31.8,,C0393534,D020362,,
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,,,
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,,,
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
617919,F12-associated cold autoinflammatory syndrome,Disease,Disorder,EB01.1,0850053,L50.2,,C5681829,,,
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,,,
619367,SAMD9L-associated autoinflammatory syndrome,Disease,Disorder,4A60.Y,0850066,D89.8,,C5680414,,,
619953,Familial hyperinflammatory lymphoproliferative immunodeficiency,Disease,Disorder,,0850069,D89.8,618982,C5680415,,,
619948,Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency,Disease,Disorder,,0850068,D84.8,619375,C5680416,,,
619979,Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,Disease,Disorder,,0850071,E72.1,617744,C5681830,,,
619972,CADINS disease,Disease,Disorder,,0850070,D81.8,617638,C5680417,,,
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,,,
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,
619238,Rare hereditary autoinflammatory disease,Category,Group of disorders,,,,,C5816810,,,
