OrphaCode,DiseaseName,AgeOfOnset,TypeOfInheritance
166024,Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
166032,Multiple epiphyseal dysplasia-miniepiphyses syndrome,"Childhood, Infancy",
58,Alexander disease,All ages,Autosomal dominant
166029,Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome,Childhood,
61,Alpha-mannosidosis,"Childhood, Infancy, Neonatal",Autosomal recessive
166038,"Metaphyseal chondrodysplasia, Kaitila type",Neonatal,
166035,Brachydactyly-short stature-retinitis pigmentosa syndrome,"Childhood, Infancy",Autosomal recessive
93,Aspartylglucosaminuria,Childhood,Autosomal recessive
585,Multiple sulfatase deficiency,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
118,Beta-mannosidosis,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
141,Canavan disease,"Childhood, Infancy, Neonatal",Autosomal recessive
166063,Pontocerebellar hypoplasia type 4,Antenatal,Autosomal recessive
166078,Von Willebrand disease type 1,All ages,Autosomal dominant
166073,Pontocerebellar hypoplasia type 6,Neonatal,Autosomal recessive
213,Cystinosis,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
166084,Von Willebrand disease type 2A,,"Autosomal dominant, Autosomal recessive"
333,Farber disease,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
166081,Von Willebrand disease type 2,All ages,"Autosomal dominant, Autosomal recessive"
349,Fucosidosis,"Childhood, Infancy",Autosomal recessive
166090,Von Willebrand disease type 2M,,Autosomal dominant
365,Glycogen storage disease due to acid maltase deficiency,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
166087,Von Willebrand disease type 2B,,Autosomal dominant
366,Glycogen storage disease due to glycogen debranching enzyme deficiency,"Childhood, Infancy",Autosomal recessive
166093,Von Willebrand disease type 2N,,Autosomal recessive
368,Glycogen storage disease due to muscle glycogen phosphorylase deficiency,"Adolescent, Adult, Childhood",Autosomal recessive
166096,Von Willebrand disease type 3,"Infancy, Neonatal",Autosomal recessive
367,Glycogen storage disease due to glycogen branching enzyme deficiency,All ages,Autosomal recessive
166100,Autosomal dominant otospondylomegaepiphyseal dysplasia,"Infancy, Neonatal",Autosomal dominant
371,Glycogen storage disease due to muscle phosphofructokinase deficiency,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
166105,FASTKD2-related infantile mitochondrial encephalomyopathy,"Adolescent, Infancy, Neonatal",Autosomal recessive
369,Glycogen storage disease due to liver glycogen phosphorylase deficiency,Childhood,Autosomal recessive
447,Paroxysmal nocturnal hemoglobinuria,All ages,Not applicable
166108,Birk-Barel syndrome,Infancy,Autosomal dominant
166113,Bazex syndrome,Adult,Not applicable
535,Rare cutaneous lupus erythematosus,All ages,Multigenic/multifactorial
166119,Isolated osteopoikilosis,"Adolescent, Adult, Childhood",Autosomal dominant
487,Krabbe disease,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
166260,Dentinogenesis imperfecta type 2,Childhood,Autosomal dominant
166265,Dentinogenesis imperfecta type 3,Childhood,Autosomal dominant
583,Mucopolysaccharidosis type 6,Childhood,Autosomal recessive
166272,Odontochondrodysplasia,"Infancy, Neonatal",Autosomal recessive
576,Mucolipidosis type II,"Antenatal, Neonatal",Autosomal recessive
166277,Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,Childhood,Unknown
812,Sialidosis type 1,"Adolescent, Childhood",Autosomal recessive
166282,Hereditary sick sinus syndrome,"Adult, Elderly","Autosomal dominant, Autosomal recessive"
578,Mucolipidosis type IV,Infancy,Autosomal recessive
166286,Porokeratotic eccrine ostial and dermal duct nevus,"Infancy, Neonatal",Not applicable
577,Mucolipidosis type III,Childhood,Autosomal recessive
166291,Dirofilariasis,All ages,Not applicable
166308,Benign infantile focal epilepsy with midline spikes and waves during sleep,Infancy,
2912,Poliomyelitis,Childhood,Not applicable
796,Sandhoff disease,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
166409,Photosensitive occipital lobe epilepsy,"Adolescent, Adult, Childhood",
801,Scleroderma,All ages,Not applicable
461,Recessive X-linked ichthyosis,Neonatal,X-linked recessive
166421,Orgasm-induced epilepsy,Adult,
166418,Eating reflex epilepsy,All ages,
584,Mucopolysaccharidosis type 7,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
166412,Hot water reflex epilepsy,All ages,Autosomal dominant
166433,Epilepsy with reading-induced seizures,"Adolescent, Adult",
881,Turner syndrome,"Antenatal, Childhood, Infancy, Neonatal","Not applicable, Unknown"
95,Friedreich ataxia,"Adolescent, Childhood",Autosomal recessive
848,Beta-thalassemia,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
846,Alpha-thalassemia,All ages,Autosomal recessive
586,Cystic fibrosis,All ages,Autosomal recessive
262,Duchenne and Becker muscular dystrophy,"Adolescent, Adult, Childhood",X-linked recessive
261,Emery-Dreifuss muscular dystrophy,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
550,MELAS,"Adolescent, Adult, Childhood","Mitochondrial inheritance, Not applicable"
269,Facioscapulohumeral dystrophy,All ages,Autosomal dominant
480,Kearns-Sayre syndrome,"Adolescent, Adult, Childhood, Infancy","Autosomal recessive, Mitochondrial inheritance, Not applicable"
593,Myofibrillar myopathy,Adult,"Autosomal dominant, Autosomal recessive"
551,MERRF,"Adult, Childhood",Mitochondrial inheritance
597,Central core disease,Childhood,Autosomal dominant
607,Nemaline myopathy,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
163746,Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease,"Infancy, Neonatal",Autosomal dominant
684,Paramyotonia congenita of Von Eulenburg,"Adolescent, Childhood, Infancy, Neonatal",Autosomal dominant
163931,Acrodermatitis continua of Hallopeau,Adult,Autosomal recessive
273,Steinert myotonic dystrophy,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
163927,Pustulosis palmaris et plantaris,,"Autosomal dominant, Autosomal recessive"
163937,"X-linked intellectual disability, Najm type","Infancy, Neonatal",X-linked dominant
163934,Atopic keratoconjunctivitis,All ages,Not applicable
614,Thomsen and Becker disease,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
163921,Posttransplant acute limbic encephalitis,All ages,
163966,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type","Infancy, Neonatal",X-linked dominant
163971,"X-linked intellectual disability, Cilliers type","Infancy, Neonatal",X-linked recessive
163976,"X-linked intellectual disability, Van Esch type","Infancy, Neonatal",X-linked recessive
163979,X-linked intellectual disability-craniofacioskeletal syndrome,"Antenatal, Infancy, Neonatal",Unknown
163956,"X-linked intellectual disability, Nascimento type",Infancy,X-linked recessive
163961,X-linked cerebral-cerebellar-coloboma syndrome,"Infancy, Neonatal",X-linked recessive
164726,Acute myeloid leukemia and myelodysplastic syndromes related to radiation,"Adult, Elderly",
324,Fabry disease,"Adolescent, Adult, Childhood","X-linked dominant, X-linked recessive"
163985,Hyperekplexia-epilepsy syndrome,Neonatal,X-linked recessive
778,Rett syndrome,Infancy,X-linked dominant
72,Angelman syndrome,Infancy,Not applicable
307,Juvenile myoclonic epilepsy,"Adolescent, Childhood",Multigenic/multifactorial
1941,Juvenile absence epilepsy,Adolescent,"Multigenic/multifactorial, Unknown"
892,Von Hippel-Lindau disease,"Adolescent, Adult, Childhood",Autosomal dominant
731,Autosomal recessive polycystic kidney disease,All ages,Autosomal recessive
164736,Familial advanced sleep-phase syndrome,"Adolescent, Childhood",Autosomal dominant
138,CHARGE syndrome,"Antenatal, Neonatal","Autosomal dominant, Unknown"
558,Marfan syndrome,All ages,Autosomal dominant
803,Amyotrophic lateral sclerosis,Adult,"Autosomal dominant, Autosomal recessive, Not applicable"
100,Ataxia-telangiectasia,"Childhood, Infancy",Autosomal recessive
733,Familial adenomatous polyposis,Adult,"Autosomal dominant, Autosomal recessive"
399,Huntington disease,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
165955,Wound myiasis,"Adult, Elderly",Not applicable
501,Lafora disease,"Adolescent, Childhood",Autosomal recessive
165958,Cavitary myiasis,All ages,Not applicable
870,Down syndrome,"Antenatal, Neonatal",Not applicable
512,Metachromatic leukodystrophy,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
166016,"Multiple epiphyseal dysplasia, Lowry type",Neonatal,
567,22q11.2 deletion syndrome,All ages,Autosomal dominant
232,Sickle cell anemia,All ages,Autosomal recessive
536,Systemic lupus erythematosus,"Adolescent, Adult, Childhood, Infancy",Not applicable
166002,Multiple epiphyseal dysplasia due to collagen 9 anomaly,"Adolescent, Childhood",Autosomal dominant
534,Oculocerebrorenal syndrome of Lowe,"Antenatal, Neonatal",X-linked recessive
790,Retinoblastoma,"Antenatal, Childhood, Infancy","Autosomal dominant, Not applicable"
165991,Exercise-induced hyperinsulinism,"Adolescent, Adult",Autosomal dominant
652,Multiple endocrine neoplasia type 1,All ages,"Autosomal dominant, Not applicable"
908,Fragile X syndrome,"Childhood, Infancy, Neonatal",X-linked dominant
3099,Rheumatic fever,Childhood,Not applicable
739,Prader-Willi syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
47,X-linked agammaglobulinemia,Childhood,X-linked recessive
580,Mucopolysaccharidosis type 2,Childhood,X-linked recessive
579,Mucopolysaccharidosis type 1,All ages,Autosomal recessive
905,Wilson disease,"Adolescent, Adult, Childhood, Elderly",Autosomal recessive
792,X-linked retinoschisis,"Adolescent, Adult, Childhood, Infancy",X-linked recessive
163525,Subacute cutaneous lupus erythematosus,"Adult, Elderly",
827,Stargardt disease,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Autosomal recessive"
163531,Chronic cutaneous lupus erythematosus,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
906,Wiskott-Aldrich syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
904,Williams syndrome,"Antenatal, Neonatal",Autosomal dominant
280,Wolf-Hirschhorn syndrome,"Antenatal, Neonatal","Multigenic/multifactorial, Not applicable"
162516,Isolated congenital nasal pyriform aperture stenosis,Neonatal,
15,Achondroplasia,"Antenatal, Neonatal",Autosomal dominant
96,Ataxia with vitamin E deficiency,All ages,Autosomal recessive
101,Dentatorubral pallidoluysian atrophy,All ages,Autosomal dominant
783,Rubinstein-Taybi syndrome,"Antenatal, Neonatal","Autosomal dominant, Unknown"
163649,Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
631,Non-acquired isolated growth hormone deficiency,Neonatal,"Autosomal dominant, Autosomal recessive, X-linked recessive"
276,T-B+ severe combined immunodeficiency due to gamma chain deficiency,Neonatal,X-linked recessive
163654,Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome,"Infancy, Neonatal",Unknown
481,Kennedy disease,Adult,X-linked recessive
664,Ornithine transcarbamylase deficiency,All ages,X-linked recessive
163668,"Spondyloepiphyseal dysplasia, MacDermot type","Infancy, Neonatal",Autosomal dominant
163662,"Spondyloepiphyseal dysplasia, Reardon type","Infancy, Neonatal",Autosomal dominant
394,Homocystinuria due to cystathionine beta-synthase deficiency,"Adolescent, Adult, Childhood",Autosomal recessive
163665,"Spondyloepiphyseal dysplasia tarda, Kohn type",Childhood,Autosomal recessive
508,Donohue syndrome,"Antenatal, Neonatal",Autosomal recessive
436,Hypophosphatasia,All ages,"Autosomal dominant, Autosomal recessive"
163596,Hemoglobin Bart's fetalis syndrome,"Antenatal, Neonatal",Autosomal recessive
429,Hypochondroplasia,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
437,Hypophosphatemic rickets,All ages,"Autosomal dominant, Autosomal recessive, X-linked dominant"
104,Leber hereditary optic neuropathy,"Adolescent, Adult",Mitochondrial inheritance
2182,Hydrocephalus with stenosis of the aqueduct of Sylvius,"Antenatal, Neonatal",X-linked recessive
163634,Maffucci syndrome,Childhood,Not applicable
163717,Familial mesial temporal lobe epilepsy,"Adolescent, Adult",Autosomal dominant
163708,Cryptogenic late-onset epileptic spasms,Childhood,
636,Neurofibromatosis type 1,"Infancy, Neonatal",Autosomal dominant
163703,Febrile infection-related epilepsy syndrome,All ages,Not applicable
649,Norrie disease,"Antenatal, Neonatal",X-linked recessive
163727,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,Infancy,Autosomal recessive
163721,Rolandic epilepsy-speech dyspraxia syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, X-linked dominant"
163684,Leukoencephalopathy-dystonia-motor neuropathy syndrome,Childhood,Autosomal recessive
163681,CNTNAP2-related developmental and epileptic encephalopathy,Infancy,Autosomal recessive
379,Chronic granulomatous disease,"Adolescent, Adult, Childhood, Infancy","Autosomal recessive, X-linked recessive"
16,Blue cone monochromatism,Infancy,X-linked recessive
644,NARP syndrome,Childhood,Mitochondrial inheritance
163699,Alveolar soft tissue sarcoma,All ages,Not applicable
637,Full NF2-related schwannomatosis,All ages,Autosomal dominant
163696,Action myoclonus-renal failure syndrome,"Adolescent, Adult",Autosomal recessive
181,X-linked hypohidrotic ectodermal dysplasia,"Childhood, Infancy",X-linked recessive
163693,2p21 microdeletion syndrome,"Infancy, Neonatal",Autosomal recessive
163690,Hypotonia-cystinuria syndrome,"Infancy, Neonatal",Autosomal recessive
337,Fibrodysplasia ossificans progressiva,Childhood,"Autosomal dominant, Not applicable"
377,Gorlin syndrome,"Adolescent, Adult",Autosomal dominant
648,Noonan syndrome,"Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
281,Monosomy 5p syndrome,Antenatal,"Not applicable, Unknown"
752,"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","Adolescent, Neonatal",Autosomal recessive
214,Cystinuria,All ages,"Autosomal recessive, Semi-dominant"
510,Lesch-Nyhan syndrome,Infancy,X-linked recessive
524,Li-Fraumeni syndrome,All ages,Autosomal dominant
699,Pearson syndrome,"Childhood, Infancy, Neonatal","Mitochondrial inheritance, Not applicable"
640,Hereditary neuropathy with liability to pressure palsies,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal dominant
60,Alpha-1-antitrypsin deficiency,All ages,Autosomal recessive
895,Waardenburg syndrome type 2,Neonatal,Autosomal dominant
896,Waardenburg syndrome type 3,Neonatal,"Autosomal dominant, Autosomal recessive"
857,Townes-Brocks syndrome,All ages,Autosomal dominant
894,Waardenburg syndrome type 1,Neonatal,Autosomal dominant
682,Hyperkalemic periodic paralysis,Childhood,Autosomal dominant
800,Schwartz-Jampel syndrome,"Infancy, Neonatal",Autosomal recessive
628,Diastrophic dysplasia,"Antenatal, Neonatal",Autosomal recessive
673,Malaria,All ages,Not applicable
681,Hypokalemic periodic paralysis,"Adolescent, Childhood",Autosomal dominant
126,Blepharophimosis-ptosis-epicanthus inversus syndrome,Antenatal,"Autosomal dominant, Not applicable"
107,BOR syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
774,Hereditary hemorrhagic telangiectasia,All ages,Autosomal dominant
794,Saethre-Chotzen syndrome,"Antenatal, Neonatal",Autosomal dominant
710,Pfeiffer syndrome,"Antenatal, Neonatal",Autosomal dominant
2869,Peutz-Jeghers syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
893,WAGR syndrome,"Antenatal, Neonatal",Autosomal dominant
912,Zellweger syndrome,Neonatal,Autosomal recessive
50,Aicardi syndrome,Neonatal,X-linked dominant
53,Albers-Schönberg osteopetrosis,Childhood,Autosomal dominant
14,Abetalipoproteinemia,"Childhood, Infancy",Autosomal recessive
52,Alagille syndrome,All ages,Autosomal dominant
167,Chédiak-Higashi syndrome,Childhood,Autosomal recessive
195,Cat-eye syndrome,"Antenatal, Neonatal",Not applicable
207,Crouzon syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
205,Crigler-Najjar syndrome,"Infancy, Neonatal",Autosomal recessive
160148,Cap polyposis,"Adolescent, Adult, Childhood, Elderly",Not applicable
201,Cowden syndrome,All ages,Autosomal dominant
192,Coffin-Lowry syndrome,"Childhood, Infancy, Neonatal",X-linked dominant
2442,X-linked lymphoproliferative disease,"Adolescent, Adult, Childhood, Infancy",X-linked recessive
169808,Mild hemophilia A,"Infancy, Neonatal",X-linked recessive
169802,Severe hemophilia A,"Infancy, Neonatal",X-linked recessive
169805,Moderate hemophilia A,"Infancy, Neonatal",X-linked recessive
562,McCune-Albright syndrome,Childhood,Not applicable
565,Menkes disease,Neonatal,X-linked recessive
2443,Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,All ages,Autosomal recessive
474,Jeune syndrome,"Antenatal, Neonatal",Autosomal recessive
540,Familial hemophagocytic lymphohistiocytosis,"Adolescent, Infancy",Autosomal recessive
568,"Microphthalmia, Lenz type",Neonatal,X-linked recessive
564,Meckel syndrome,Antenatal,Autosomal recessive
289,Ellis Van Creveld syndrome,"Antenatal, Neonatal",Autosomal recessive
258,Laminin subunit alpha 2-related congenital muscular dystrophy,"Antenatal, Infancy, Neonatal",Autosomal recessive
1247,Schistosomiasis,All ages,Not applicable
112,Bartter syndrome,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
1646,Chromosome Y microdeletion syndrome,Adult,"Not applicable, Y-linked"
169464,Primary CD59 deficiency,"Infancy, Neonatal",Autosomal recessive
99,Autosomal dominant cerebellar ataxia,All ages,Autosomal dominant
116,Beckwith-Wiedemann syndrome,"Antenatal, Neonatal","Autosomal dominant, Unknown"
87,Apert syndrome,"Antenatal, Neonatal",Autosomal dominant
97,Familial paroxysmal ataxia,Childhood,Autosomal dominant
169467,Recurrent Neisseria infections due to factor D deficiency,,Autosomal recessive
313,Lamellar ichthyosis,Neonatal,"Autosomal dominant, Autosomal recessive"
169799,Mild hemophilia B,"Infancy, Neonatal",X-linked recessive
169796,Moderate hemophilia B,"Infancy, Neonatal",X-linked recessive
169793,Severe hemophilia B,"Infancy, Neonatal",X-linked recessive
1000,Ocular albinism with late-onset sensorineural deafness,Adult,X-linked recessive
999,Ermine phenotype,Neonatal,Autosomal recessive
171430,Severe congenital nemaline myopathy,"Infancy, Neonatal",Autosomal recessive
171433,Intermediate nemaline myopathy,Neonatal,"Autosomal dominant, Autosomal recessive"
171436,Typical nemaline myopathy,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
171439,Childhood-onset nemaline myopathy,Childhood,Autosomal dominant
55,Oculocutaneous albinism,Neonatal,Autosomal recessive
171442,Adult-onset nemaline myopathy,Adult,Not applicable
171445,Muscle filaminopathy,Adult,Autosomal dominant
171607,X-linked spastic paraplegia type 34,"Adolescent, Adult, Childhood",X-linked recessive
2771,Bruck syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
171612,Autosomal dominant spastic paraplegia type 37,All ages,Autosomal dominant
171617,Autosomal dominant spastic paraplegia type 38,Childhood,Autosomal dominant
1349,Mitochondrial DNA-related cardiomyopathy and hearing loss,"Adult, Childhood",Mitochondrial inheritance
171622,Autosomal recessive spastic paraplegia type 32,Childhood,Autosomal recessive
171629,Autosomal recessive spastic paraplegia type 35,"Adolescent, Childhood",Autosomal recessive
861,Treacher-Collins syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
308,Progressive myoclonic epilepsy type 1,"Adolescent, Childhood",Autosomal recessive
199,Cornelia de Lange syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable, X-linked recessive"
2162,Holoprosencephaly,"Antenatal, Neonatal","Autosomal recessive, Multigenic/multifactorial, Not applicable, Oligogenic, X-linked dominant"
930,Idiopathic achalasia,All ages,"Autosomal recessive, Not applicable"
998,Albinism-deafness syndrome,Neonatal,X-linked recessive
1727,22q11.2 duplication syndrome,All ages,Autosomal dominant
169079,Cernunnos-XLF deficiency,"Infancy, Neonatal",Autosomal recessive
1716,Distal duplication 18q syndrome,"Antenatal, Neonatal",
1715,Trisomy 18p syndrome,"Adolescent, Adult, Childhood, Infancy",
3380,Trisomy 18 syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
168984,CLAPO syndrome,"Antenatal, Infancy, Neonatal",Unknown
1707,Distal duplication 15q syndrome,"Antenatal, Neonatal",
168999,Malignant melanoma of the mucosa,"Adult, Elderly",
3378,Trisomy 13 syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
169100,Immunodeficiency due to CD25 deficiency,Infancy,Autosomal recessive
169105,Thymoma-hypogammaglobulinemia syndrome,Adult,
169090,Combined immunodeficiency due to CRAC channel dysfunction,"Infancy, Neonatal",Autosomal recessive
236,Trisomy 9p syndrome,"Antenatal, Neonatal",
169095,Severe combined immunodeficiency due to FOXN1 deficiency,"Infancy, Neonatal",Autosomal recessive
169082,Combined immunodeficiency due to CD3gamma deficiency,Infancy,Autosomal recessive
169085,Susceptibility to respiratory infections associated with CD8alpha chain mutation,"Infancy, Neonatal",Autosomal recessive
168829,Primary peritoneal carcinoma,Adult,Unknown
168816,Peritoneal inclusion cyst,Adult,Unknown
753,"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency","Adolescent, Childhood, Infancy, Neonatal",Autosomal recessive
868,Triose phosphate-isomerase deficiency,Neonatal,Autosomal recessive
168811,Malignant peritoneal mesothelioma,Adult,"Multigenic/multifactorial, Not applicable"
218,Darier disease,"Adolescent, Adult, Childhood",Autosomal dominant
168796,"Heart-hand syndrome, Slovenian type",Adult,Autosomal dominant
1465,Coffin-Siris syndrome,"Antenatal, Neonatal",Autosomal dominant
168782,Childhood disintegrative disorder,Childhood,Not applicable
1642,Distal deletion 9p syndrome,"Infancy, Neonatal",
168966,Composite lymphoma,"Adult, Elderly",
168960,Refractory anemia with excess blasts in transformation,"Adolescent, Adult, Elderly",
8,"47,XYY syndrome",All ages,Not applicable
1636,Distal monosomy 7q36 syndrome,"Antenatal, Neonatal",
168956,Hypereosinophilic syndrome,All ages,"Not applicable, Unknown"
1600,Monosomy 18q syndrome,"Antenatal, Neonatal",Autosomal dominant
1598,Monosomy 18p syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
168940,Chronic eosinophilic leukemia,"Adolescent, Adult, Childhood",Not applicable
2773,Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,"Infancy, Neonatal",Unknown
2772,Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,"Antenatal, Neonatal",Autosomal recessive
2609,Isolated complex I deficiency,All ages,"Autosomal recessive, Mitochondrial inheritance, X-linked dominant"
626,Large/giant congenital melanocytic nevus,"Infancy, Neonatal",Multigenic/multifactorial
773,Adult Refsum disease,"Adolescent, Adult, Childhood",Autosomal recessive
11,Pentasomy X syndrome,Neonatal,
169154,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,Infancy,Autosomal recessive
370,Glycogen storage disease due to phosphorylase kinase deficiency,All ages,"Autosomal recessive, X-linked recessive"
169150,Immunodeficiency due to a late component of complement deficiency,,Autosomal recessive
169160,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,Infancy,Autosomal recessive
385,Neurodegeneration with brain iron accumulation,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive, X-linked dominant"
169157,T-B+ severe combined immunodeficiency due to CD45 deficiency,Infancy,Autosomal recessive
1947,Northern epilepsy,Childhood,Autosomal recessive
169147,Immunodeficiency due to a classical component pathway complement deficiency,,Autosomal recessive
169142,Recurrent infections due to specific granule deficiency,"Infancy, Neonatal",Autosomal recessive
352,Galactosemia,"Childhood, Infancy, Neonatal",Autosomal recessive
596,X-linked centronuclear myopathy,"Antenatal, Neonatal",X-linked recessive
610,Bethlem muscular dystrophy,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
169186,Autosomal recessive centronuclear myopathy,"Childhood, Infancy, Neonatal",Autosomal recessive
464,Incontinentia pigmenti,Neonatal,X-linked dominant
3307,Tetrasomy 18p syndrome,"Antenatal, Neonatal",Not applicable
169189,Autosomal dominant centronuclear myopathy,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
44,Neonatal adrenoleukodystrophy,"Childhood, Infancy, Neonatal",Autosomal recessive
56,Alkaptonuria,"Adult, Infancy",Autosomal recessive
963,Acromegaly,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
1059,Blue rubber bleb nevus,Childhood,"Autosomal dominant, Not applicable"
1006,Alopecia antibody deficiency,"Childhood, Infancy",Unknown
1046,Lethal hemolytic anemia-genital anomalies syndrome,Neonatal,Unknown
22,Succinic semialdehyde dehydrogenase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
29,Mevalonic aciduria,"Childhood, Infancy, Neonatal",Autosomal recessive
245,Nager syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
30,Hereditary orotic aciduria,"Infancy, Neonatal",Autosomal recessive
36,Acrocallosal syndrome,"Antenatal, Neonatal",Autosomal recessive
915,Aarskog-Scott syndrome,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
2614,Nail-patella syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
33,Isovaleric acidemia,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
819,Smith-Magenis syndrome,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
3085,Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome,Childhood,Autosomal recessive
9,Tetrasomy X syndrome,"Infancy, Neonatal",
168615,Hereditary persistence of alpha-fetoprotein,Adolescent,Autosomal dominant
168612,Congenital deficiency in alpha-fetoprotein,"Antenatal, Neonatal",Autosomal recessive
1442,Ring chromosome 18 syndrome,"Antenatal, Infancy, Neonatal",
168621,"Dysplasia of head of femur, Meyer type","Infancy, Neonatal",
1452,Cleidocranial dysplasia,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
168629,Autosomal thrombocytopenia with normal platelets,,"Autosomal dominant, Autosomal recessive"
193,Cohen syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
168624,"Familial scaphocephaly syndrome, McGillivray type","Infancy, Neonatal",Autosomal dominant
1488,Cooper-Jabs syndrome,Neonatal,Autosomal recessive
200,Isolated corpus callosum agenesis,Antenatal,Not applicable
168632,Generalized basaloid follicular hamartoma syndrome,,Autosomal dominant
1334,Chronic mucocutaneous candidiasis,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
168583,Hereditary North American Indian childhood cirrhosis,"Infancy, Neonatal",Autosomal recessive
1369,Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome,"Infancy, Neonatal",Autosomal recessive
168577,Hereditary cryohydrocytosis with reduced stomatin,"Infancy, Neonatal",Autosomal dominant
168593,Sudden infant death-dysgenesis of the testes syndrome,"Infancy, Neonatal",Autosomal recessive
1406,Charlie M syndrome,Neonatal,Not applicable
168588,Hyperandrogenism due to cortisone reductase deficiency,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
168601,Congenital enteropathy due to enteropeptidase deficiency,"Infancy, Neonatal",Autosomal recessive
1414,Cholestasis-lymphedema syndrome,"Infancy, Neonatal",Autosomal recessive
168598,Methionine adenosyltransferase I/III deficiency,Infancy,Autosomal recessive
168606,Seborrhea-like dermatitis with psoriasiform elements,Childhood,Autosomal dominant
168549,Axial spondylometaphyseal dysplasia,"Childhood, Infancy",Autosomal recessive
168552,Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,Infancy,Autosomal recessive
1154,Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
168555,"Spondylometaphyseal dysplasia, A4 type",Infancy,Autosomal recessive
168558,"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency","Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
168563,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome","Infancy, Neonatal",Autosomal recessive
124,Diamond-Blackfan anemia,"Childhood, Infancy, Neonatal",Autosomal dominant
168566,Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,"Infancy, Neonatal",Autosomal recessive
1310,Caffey disease,"Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Unknown"
168569,H syndrome,Childhood,Autosomal recessive
168572,Native American myopathy,"Infancy, Neonatal",Autosomal recessive
125,Bloom syndrome,"Antenatal, Neonatal",Autosomal recessive
90,Argininemia,"Childhood, Infancy",Autosomal recessive
168443,Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,"Infancy, Neonatal",
1065,Aniridia-cerebellar ataxia-intellectual disability syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
168451,Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,Infancy,
168454,"Spondyloepimetaphyseal dysplasia, Geneviève type",Infancy,Autosomal recessive
1146,Distal arthrogryposis type 1,"Antenatal, Neonatal",Autosomal dominant
1143,Neurogenic arthrogryposis multiplex congenita,Neonatal,Autosomal recessive
168544,"Spondylometaphyseal dysplasia, Golden type",No data available,X-linked recessive
1147,Sheldon-Hall syndrome,Neonatal,"Autosomal dominant, Not applicable"
246,Postaxial acrofacial dysostosis,"Antenatal, Neonatal",Autosomal recessive
1770,XY type gonadal dysgenesis-associated anomalies syndrome,Neonatal,Autosomal recessive
1775,Dyskeratosis congenita,"Adolescent, Adult, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
1764,Familial dysautonomia,"Childhood, Infancy, Neonatal",Autosomal recessive
235,Dubowitz syndrome,"Antenatal, Neonatal",Autosomal recessive
239,Dyggve-Melchior-Clausen disease,Infancy,Autosomal recessive
1672,Diencephalic syndrome,"Adolescent, Adult, Childhood, Infancy",Not applicable
833,Encephalopathy due to sulfite oxidase deficiency,"Antenatal, Infancy, Neonatal",Autosomal recessive
167635,Scleromyxedema,Adult,
765,Pyruvate dehydrogenase deficiency,"Childhood, Infancy, Neonatal","Autosomal recessive, Not applicable, X-linked dominant"
395,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,"Infancy, Neonatal",Autosomal recessive
408,Isolated glycerol kinase deficiency,All ages,X-linked recessive
148,Multiple carboxylase deficiency,"Infancy, Neonatal",Autosomal recessive
147,Carbamoyl-phosphate synthetase 1 deficiency,All ages,Autosomal recessive
23,Argininosuccinic aciduria,All ages,Autosomal recessive
45,Adenosine monophosphate deaminase deficiency,All ages,Autosomal recessive
226,Dihydropteridine reductase deficiency,"Infancy, Neonatal",Autosomal recessive
217,Isolated Dandy-Walker malformation,"Antenatal, Neonatal",Multigenic/multifactorial
1556,Cutis marmorata telangiectatica congenita,Neonatal,Not applicable
1538,Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,Infancy,Autosomal dominant
1496,Corpus callosum agenesis-neuronopathy syndrome,"Antenatal, Neonatal",Autosomal recessive
417,Neonatal severe primary hyperparathyroidism,Neonatal,"Autosomal recessive, Not applicable"
2233,Hypogonadism-mitral valve prolapse-intellectual disability syndrome,Infancy,Unknown
2248,Hypoplastic left heart syndrome,"Antenatal, Neonatal",Unknown
446,Neonatal hemochromatosis,Neonatal,Autosomal recessive
2135,Cutaneous mastocytosis-deafness-microtia syndrome,"Infancy, Neonatal",Autosomal recessive
2140,Congenital diaphragmatic hernia,Neonatal,"Multigenic/multifactorial, Not applicable"
2185,Congenital hydrocephalus,Antenatal,Not applicable
2116,Hartnup disease,All ages,Autosomal recessive
2118,Hawkinsinuria,"Infancy, Neonatal",Autosomal dominant
351,Galactosialidosis,All ages,Autosomal recessive
2020,Congenital fiber-type disproportion myopathy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
2053,Freeman-Sheldon syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
1931,Frontal encephalocele,"Antenatal, Infancy, Neonatal",
295,Fetal parvovirus syndrome,"Antenatal, Neonatal",Not applicable
1933,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",Infancy,Mitochondrial inheritance
1880,Ebstein malformation of the tricuspid valve,All ages,"Autosomal dominant, Not applicable"
255,Dopa-responsive dystonia,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable"
1915,Fetal alcohol syndrome,"Antenatal, Neonatal",Not applicable
1885,Isolated ectopia lentis,All ages,"Autosomal dominant, Autosomal recessive"
1851,Multicystic dysplastic kidney,"Infancy, Neonatal",Not applicable
660,Omphalocele,Antenatal,Not applicable
635,Neuroblastoma,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Not applicable
2612,Linear nevus sebaceus syndrome,"Childhood, Infancy, Neonatal",Not applicable
2635,Metatropic dysplasia,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
2655,Thanatophoric dysplasia,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
606,Proximal myotonic myopathy,"Adolescent, Adult, Elderly",Autosomal dominant
705,Pendred syndrome,"Infancy, Neonatal",Autosomal recessive
2801,Juvenile Paget disease,Childhood,Autosomal recessive
884,Pallister-Killian syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
2785,Osteopetrosis with renal tubular acidosis,"Infancy, Neonatal",Autosomal recessive
2744,Horizontal gaze palsy with progressive scoliosis,"Adolescent, Childhood",Autosomal recessive
2746,Opsismodysplasia,Neonatal,Autosomal recessive
2971,Peroxisomal acyl-CoA oxidase deficiency,Neonatal,Autosomal recessive
2970,Prune belly syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable, X-linked recessive"
744,Proteus syndrome,Infancy,Not applicable
2903,Familial spontaneous pneumothorax,"Adolescent, Adult",Autosomal dominant
2901,Neuralgic amyotrophy,Adult,"Autosomal dominant, Not applicable"
718,Isolated Pierre Robin sequence,"Antenatal, Neonatal","Autosomal dominant, Multigenic/multifactorial, Not applicable, Unknown"
290,Congenital rubella syndrome,"Antenatal, Neonatal",Not applicable
3071,Costello syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
763,Pycnodysostosis,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
2983,Difference of sex development-intellectual disability syndrome,Neonatal,Unknown
2301,Congenital short bowel syndrome,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
469,Hereditary fructose intolerance,All ages,Autosomal recessive
2308,Jacobsen syndrome,Antenatal,"Not applicable, Unknown"
2318,Joubert syndrome with oculorenal defect,"Infancy, Neonatal",Autosomal recessive
2253,Foveal hypoplasia-presenile cataract syndrome,Adult,Autosomal dominant
180188,Isolated congenital breast hypoplasia/aplasia,,Autosomal recessive
2300,Isolated multiple intestinal atresia,"Antenatal, Neonatal",Autosomal recessive
180226,Embryonal carcinoma,"Adolescent, Childhood",Not applicable
502,Trichorhinophalangeal syndrome type 2,"Childhood, Infancy, Neonatal",Autosomal dominant
180229,Polyembryoma,"Adolescent, Adult",Not applicable
2370,Larsen-like osseous dysplasia-short stature syndrome,Neonatal,
477,KID syndrome,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable"
180247,Vaginal carcinoma,"Adult, Elderly",
506,Leigh syndrome,All ages,"Autosomal recessive, Mitochondrial inheritance, X-linked recessive"
2430,Congenital macroglossia,Neonatal,
2414,Congenital pulmonary lymphangiectasia,Neonatal,Autosomal recessive
2373,Congenital laryngomalacia,"Infancy, Neonatal",
180234,Mixed germ cell tumor,"Adolescent, Adult, Childhood",Not applicable
2377,Laurence-Moon syndrome,Neonatal,Autosomal recessive
2374,Isolated congenital laryngeal web,"Infancy, Neonatal",
180242,Malignant tumor of fallopian tubes,"Adult, Elderly",Not applicable
2466,MASA syndrome,Neonatal,X-linked recessive
180275,Paget disease of the nipple,Adult,
560,Marshall syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
570,Moebius syndrome,"Antenatal, Neonatal",Autosomal dominant
1505,Short rib-polydactyly syndrome,"Antenatal, Neonatal",Autosomal recessive
180261,Phyllodes tumor of the breast,Adult,
2444,Congenital pulmonary airway malformation,"Adolescent, Adult, Antenatal, Neonatal",Not applicable
612,Potassium-aggravated myotonia,Childhood,Autosomal dominant
179494,Obesity due to leptin receptor gene deficiency,"Childhood, Infancy",Autosomal recessive
716,Phenylketonuria,Infancy,Autosomal recessive
287,Classical Ehlers-Danlos syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
1020,Early-onset autosomal dominant Alzheimer disease,Adult,Autosomal dominant
63,Alport syndrome,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Autosomal recessive, X-linked dominant"
54,X-linked recessive ocular albinism,"Infancy, Neonatal",X-linked recessive
154,Familial isolated dilated cardiomyopathy,All ages,"Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive"
84,Fanconi anemia,Childhood,"Autosomal recessive, X-linked recessive"
70,Proximal spinal muscular atrophy,All ages,Autosomal recessive
69,Amyloidosis,All ages,
180176,Familial juvenile hypertrophy of the breast,,Not applicable
191,Cockayne syndrome,All ages,Autosomal recessive
166,Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy,All ages,"Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive"
834,Free sialic acid storage disease,"Antenatal, Infancy, Neonatal",Autosomal recessive
799,Schizencephaly,All ages,"Autosomal dominant, Autosomal recessive"
3151,Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,Childhood,Unknown
178566,Mycosis fungoides and variants,Adult,Not applicable
813,Silver-Russell syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
3169,Sirenomelia,"Antenatal, Neonatal",Not applicable
816,Sjögren-Larsson syndrome,"Infancy, Neonatal",Autosomal recessive
821,Sotos syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
3173,Infantile spasms-broad thumbs syndrome,Neonatal,
3204,Stormorken-Sjaastad-Langslet syndrome,All ages,Autosomal dominant
3205,Sturge-Weber syndrome,"Antenatal, Neonatal",Not applicable
3320,Thrombocytopenia-absent radius syndrome,"Antenatal, Neonatal",Autosomal recessive
3346,Tracheal agenesis,"Antenatal, Neonatal",Unknown
858,Congenital toxoplasmosis,"Antenatal, Infancy, Neonatal",Not applicable
887,VACTERL/VATER association,"Antenatal, Neonatal",Not applicable
291,Congenital varicella syndrome,"Antenatal, Neonatal",Not applicable
909,Cerebrotendinous xanthomatosis,"Infancy, Neonatal",Autosomal recessive
3447,Weaver syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
1422,Chondrodysplasia-difference of sex development syndrome,"Antenatal, Neonatal",Autosomal recessive
178478,Infant botulism,"Infancy, Neonatal",
178481,Intestinal botulism,All ages,
178469,Autosomal dominant non-syndromic intellectual disability,"Childhood, Infancy",Autosomal dominant
178475,Wound botulism,All ages,
178461,X-linked myopathy with postural muscle atrophy,Adult,X-linked recessive
178464,Hereditary myopathy with early respiratory failure,Adult,Autosomal dominant
178396,Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,Adolescent,"Autosomal dominant, Not applicable"
178400,Distal myopathy with anterior tibial onset,"Adolescent, Adult",Autosomal recessive
178382,Congenital vertical talus,"Infancy, Neonatal",Autosomal dominant
178389,Osteopetrosis-hypogammaglobulinemia syndrome,"Infancy, Neonatal",Autosomal recessive
62,Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3,"Adolescent, Childhood",Autosomal recessive
178364,Syndromic microphthalmia type 5,"Antenatal, Neonatal",Autosomal dominant
715,Glycogen storage disease due to muscle phosphorylase kinase deficiency,"Adolescent, Adult","Autosomal recessive, X-linked recessive"
178377,Osteosclerosis-developmental delay-craniosynostosis syndrome,"Infancy, Neonatal",Autosomal dominant
348,"Fructose-1,6-bisphosphatase deficiency",All ages,Autosomal recessive
178345,Aromatase excess syndrome,"Adolescent, Childhood",Autosomal dominant
178355,Smith-McCort dysplasia,Childhood,Autosomal recessive
178338,UV-sensitive syndrome,Infancy,Autosomal recessive
3137,Alpha-N-acetylgalactosaminidase deficiency,"Adult, Childhood, Infancy",Autosomal recessive
117,Behçet disease,"Adolescent, Adult, Childhood",Multigenic/multifactorial
732,Polymyositis,"Adult, Elderly",Not applicable
221,Dermatomyositis,"Adult, Elderly",Not applicable
598,Multiminicore myopathy,"Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
204,Sporadic Creutzfeldt-Jakob disease,"Adult, Elderly",Not applicable
178517,Localized pagetoid reticulosis,Adult,Not applicable
178512,Folliculotropic mycosis fungoides,Adult,Not applicable
178509,Perry syndrome,Adult,Autosomal dominant
178506,Interstitial lung disease-brain calcification syndrome,"Adolescent, Adult, Childhood, Elderly",Autosomal recessive
611,Inclusion body myositis,"Adult, Elderly",Not applicable
178487,Adult intestinal botulism,Adult,
177926,Bleeding disorder in hemophilia A carriers,All ages,X-linked recessive
581,Mucopolysaccharidosis type 3,Childhood,Autosomal recessive
177929,Bleeding disorder in hemophilia B carriers,,X-linked recessive
685,Hereditary spastic paraplegia,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
666,Osteogenesis imperfecta,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
178029,Arginine vasopressin deficiency,Childhood,"Autosomal dominant, Autosomal recessive, X-linked dominant"
177901,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1,"Antenatal, Neonatal",Autosomal dominant
423,Malignant hyperthermia of anesthesia,All ages,Autosomal dominant
177904,Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2,"Antenatal, Neonatal",Autosomal dominant
418,Congenital adrenal hyperplasia,,Autosomal recessive
177907,Prader-Willi syndrome due to translocation,"Antenatal, Neonatal",Not applicable
177910,Prader-Willi syndrome due to imprinting mutation,"Antenatal, Neonatal",Not applicable
216,Neuronal ceroid lipofuscinosis,All ages,"Autosomal dominant, Autosomal recessive"
364,Glycogen storage disease due to glucose-6-phosphatase deficiency,"Infancy, Neonatal",Autosomal recessive
355,Gaucher disease,All ages,Autosomal recessive
388,Hirschsprung disease,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable"
448,Hemophilia,"Antenatal, Infancy, Neonatal",X-linked recessive
304,Epidermolysis bullosa simplex,"Adolescent, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
174590,Congenital hypogonadotropic hypogonadism,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
354,GM1 gangliosidosis,Childhood,Autosomal recessive
178320,Acute lung injury,All ages,Not applicable
178333,Åland Islands eye disease,"Infancy, Neonatal",X-linked recessive
760,Purine nucleoside phosphorylase deficiency,"Adolescent, Childhood, Infancy",Autosomal recessive
270,Oculopharyngeal muscular dystrophy,"Adult, Elderly","Autosomal dominant, Autosomal recessive"
178303,8q22.1 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
244,Primary ciliary dyskinesia,Neonatal,"Autosomal dominant, Autosomal recessive, X-linked recessive"
178148,Antenatal multiminicore disease with arthrogryposis multiplex congenita,Antenatal,
178307,Reticulate acropigmentation of Kitamura,"Adolescent, Adult, Childhood",Autosomal dominant
589,Myasthenia gravis,All ages,"Multigenic/multifactorial, Not applicable"
805,Tuberous sclerosis complex,All ages,Autosomal dominant
886,Usher syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
178145,Moderate multiminicore disease with hand involvement,"Childhood, Infancy, Neonatal",Autosomal dominant
3440,Waardenburg syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
702,Pelizaeus-Merzbacher disease,All ages,"X-linked dominant, X-linked recessive"
738,Porphyria,All ages,"Autosomal dominant, Autosomal recessive"
768,Congenital long QT syndrome,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive"
791,Retinitis pigmentosa,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive"
375,Anti-glomerular basement membrane disease,"Adolescent, Adult, Elderly",Not applicable
183,Eosinophilic granulomatosis with polyangiitis,"Adolescent, Adult, Elderly",Not applicable
1164,Allergic bronchopulmonary aspergillosis,Childhood,Not applicable
2406,Locked-in syndrome,All ages,Not applicable
509,Leptospirosis,All ages,Not applicable
761,Immunoglobulin A vasculitis,Childhood,Not applicable
2131,Alternating hemiplegia of childhood,"Infancy, Neonatal","Autosomal dominant, Not applicable"
713,Glycogen storage disease due to phosphoglycerate kinase 1 deficiency,"Adolescent, Adult, Childhood",X-linked recessive
57,Glycogen storage disease due to aldolase A deficiency,Neonatal,Autosomal recessive
249,Fibrous dysplasia of bone,"Adolescent, Adult, Childhood",Not applicable
2334,Autosomal dominant keratitis,Childhood,Autosomal dominant
755,Leydig cell hypoplasia,Neonatal,
171929,Trisomy 10p syndrome,"Infancy, Neonatal",
187,Citrullinemia,"Adult, Neonatal",Autosomal recessive
46,Adenylosuccinate lyase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
442,Congenital hypothyroidism,"Antenatal, Neonatal",Autosomal recessive
43,X-linked adrenoleukodystrophy,"Adolescent, Adult, Childhood, Elderly",X-linked dominant
3166,Sialuria,Infancy,Autosomal dominant
2882,Sitosterolemia,All ages,Autosomal recessive
810,Shigellosis,All ages,Not applicable
3165,Eosinophilic fasciitis,Adult,Unknown
2420,Primary pulmonary lymphoma,"Adult, Elderly",Not applicable
727,Microscopic polyangiitis,"Adult, Childhood",Not applicable
900,Granulomatosis with polyangiitis,"Adolescent, Adult, Childhood, Elderly",Not applicable
863,Trichinellosis,All ages,Not applicable
171695,Parkinsonian-pyramidal syndrome,"Adolescent, Adult",Autosomal recessive
134,Beta-ketothiolase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
171700,Diffuse panbronchiolitis,Adult,Multigenic/multifactorial
171703,Microcephaly-polymicrogyria-corpus callosum agenesis syndrome,"Antenatal, Neonatal",Autosomal recessive
171706,Short stature-delayed bone age due to thyroid hormone metabolism deficiency,"Childhood, Infancy",Autosomal recessive
171709,Male infertility due to globozoospermia,Adult,Autosomal recessive
171719,Cutis laxa-Marfanoid syndrome,"Infancy, Neonatal",
1163,Aspergillosis,All ages,Not applicable
171723,White sponge nevus,,Autosomal dominant
3467,Hereditary xanthinuria,All ages,Autosomal recessive
171673,Limbal stem cell deficiency,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
511,Maple syrup urine disease,"Childhood, Infancy, Neonatal",Autosomal recessive
171680,Lissencephaly due to TUBA1A mutation,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
32,Glutathione synthetase deficiency,Neonatal,Autosomal recessive
171690,Metabolic myopathy due to lactate transporter defect,,Autosomal dominant
26,Methylmalonic acidemia with homocystinuria,All ages,"Autosomal recessive, X-linked recessive"
171863,Autosomal dominant spastic paraplegia type 42,"Adolescent, Adult, Childhood",Autosomal dominant
171871,Renal pseudohypoaldosteronism type 1,"Infancy, Neonatal",Autosomal dominant
322,Exstrophy-epispadias complex,"Antenatal, Neonatal",Multigenic/multifactorial
171866,"Spondyloepimetaphyseal dysplasia, aggrecan type","Infancy, Neonatal",Autosomal recessive
2368,Gastroschisis,Antenatal,Not applicable
171881,Cap myopathy,"Childhood, Infancy, Neonatal",Autosomal dominant
2512,Autosomal recessive primary microcephaly,"Antenatal, Neonatal",Autosomal recessive
171876,Generalized pseudohypoaldosteronism type 1,"Infancy, Neonatal",Autosomal recessive
795,Rare form of salmonellosis,All ages,Not applicable
797,Sarcoidosis,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
92,Juvenile idiopathic arthritis,Childhood,
171829,6q16 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Unknown
1201,Small bowel atresia,Antenatal,"Autosomal recessive, Not applicable, Unknown"
171844,Blindness-scoliosis-arachnodactyly syndrome,"Adolescent, Childhood",Autosomal dominant
171839,Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,Neonatal,
1202,Larynx atresia,All ages,Autosomal dominant
1199,Esophageal atresia,Neonatal,Not applicable
171851,MEDNIK syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
171848,Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome,Childhood,Autosomal recessive
1304,Brucellosis,All ages,Not applicable
173,Cholera,All ages,Not applicable
3303,Tetralogy of Fallot,"Antenatal, Neonatal","Autosomal dominant, Multigenic/multifactorial"
200418,Immunodeficiency with factor I anomaly,"Adolescent, Adult, Childhood",Autosomal recessive
730,Autosomal dominant polycystic kidney disease,"Adolescent, Adult, Childhood",Autosomal dominant
200421,Immunodeficiency with factor H anomaly,,"Autosomal dominant, Autosomal recessive"
486,Autosomal dominant severe congenital neutropenia,"Infancy, Neonatal",Autosomal dominant
1209,Tricuspid atresia,"Antenatal, Neonatal",Not applicable
98,Autosomal recessive spastic ataxia of Charlevoix-Saguenay,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
1478,Interatrial communication,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Not applicable"
330,Congenital factor XII deficiency,All ages,Autosomal recessive
1482,Gonococcal conjunctivitis,All ages,
1959,Evans syndrome,"Adult, Childhood",Not applicable
284,Alveolar echinococcosis,"Adult, Elderly",Not applicable
1177,Early-onset cerebellar ataxia with retained tendon reflexes,"Adolescent, Adult, Childhood",Autosomal recessive
828,Stickler syndrome,"Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
1431,Paroxysmal dyskinesia,Childhood,"Autosomal dominant, Not applicable"
199340,BAG3-related myofibrillar myopathy,"Adolescent, Childhood",Autosomal dominant
293,Congenital herpes simplex virus infection,"Antenatal, Neonatal",Not applicable
199337,Pancreatic insufficiency-anemia-hyperostosis syndrome,"Infancy, Neonatal",Autosomal recessive
234,Dubin-Johnson syndrome,"Adolescent, Adult",Autosomal recessive
199348,Thiamine-responsive encephalopathy,Adolescent,Autosomal recessive
3287,Takayasu arteritis,"Adolescent, Adult",Not applicable
199343,EAST syndrome,"Infancy, Neonatal",Autosomal recessive
2800,Extramammary Paget disease,"Adult, Elderly",
199326,"Isolated autosomal dominant hypomagnesemia, Glaudemans type","Infancy, Neonatal",Autosomal dominant
1928,Congenital lobar emphysema,"Adult, Childhood, Infancy, Neonatal",Not applicable
199332,Endocrine-cerebro-osteodysplasia syndrome,"Infancy, Neonatal",Autosomal recessive
199329,"Congenital myopathy, Paradas type","Infancy, Neonatal",Autosomal recessive
2665,Congenital mesoblastic nephroma,"Infancy, Neonatal",
3463,Wolfram syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
199642,Isolated congenital microcephaly,"Antenatal, Neonatal",
549,Legionnaires disease,All ages,Not applicable
704,Pemphigus vulgaris,"Adult, Childhood, Elderly",Not applicable
199354,Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy,"Adolescent, Adult",Autosomal recessive
199351,Adult-onset dystonia-parkinsonism,"Adolescent, Adult",Autosomal recessive
356,Gerstmann-Straussler-Scheinker syndrome,Adult,"Autosomal dominant, Not applicable"
466,Fatal familial insomnia,Adult,Autosomal dominant
199293,Congenital microgastria,"Antenatal, Infancy, Neonatal",
3452,Whipple disease,No data available,Not applicable
199282,Harlequin syndrome,All ages,Not applicable
199285,Hereditary hypercarotenemia and vitamin A deficiency,"Childhood, Infancy",Autosomal dominant
2331,Kawasaki disease,"Adolescent, Adult, Childhood, Infancy",Multigenic/multifactorial
199276,Familial multiple lipomatosis,"Adolescent, Adult, Infancy",
2102,GTP cyclohydrolase I deficiency,"Infancy, Neonatal",Autosomal recessive
3002,Immune thrombocytopenia,All ages,Not applicable
199267,Infantile digital fibromatosis,"Childhood, Infancy, Neonatal",
199315,Familial clubfoot with or without associated lower limb anomalies,"Infancy, Neonatal",Autosomal dominant
2040,Congenital respiratory-biliary fistula,Childhood,Not applicable
199318,15q13.3 microdeletion syndrome,Childhood,"Autosomal dominant, Not applicable"
199310,Tetragametic chimerism syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2357,Bronchogenic cyst,All ages,Unknown
274,Bernard-Soulier syndrome,All ages,"Autosomal dominant, Autosomal recessive"
1195,Congenital atransferrinemia,"Childhood, Infancy",Autosomal recessive
199302,Isolated cleft lip,"Infancy, Neonatal",Multigenic/multifactorial
199306,Cleft lip/palate,"Infancy, Neonatal",Multigenic/multifactorial
926,Acatalasemia,All ages,Autosomal recessive
3020,Ramsay Hunt syndrome,All ages,Not applicable
199296,Congenital isolated ACTH deficiency,Neonatal,Autosomal recessive
1531,Craniosynostosis,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable, Unknown, X-linked recessive"
199299,Late-onset isolated ACTH deficiency,Adult,Not applicable
1675,Dihydropyrimidine dehydrogenase deficiency,All ages,Autosomal recessive
189427,Cushing syndrome due to bilateral macronodular adrenocortical disease,All ages,"Autosomal dominant, Not applicable"
976,Adenine phosphoribosyltransferase deficiency,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal recessive
3129,Sarcosinemia,All ages,Autosomal recessive
415,Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
13,6-pyruvoyl-tetrahydropterin synthase deficiency,"Infancy, Neonatal",Autosomal recessive
2494,Ménétrier disease,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable, Unknown"
171,Primary sclerosing cholangitis,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
199251,Ledderhose disease,Adult,
199247,Corticosteroid-binding globulin deficiency,Adult,Semi-dominant
199244,Nelson syndrome,"Adult, Elderly",
199241,Pulmonary capillary hemangiomatosis,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
2134,Atypical hemolytic uremic syndrome,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
189466,Familial isolated hypoparathyroidism due to impaired PTH secretion,,"Autosomal dominant, Autosomal recessive"
17,Fatal infantile lactic acidosis with methylmalonic aciduria,"Infancy, Neonatal",Autosomal recessive
3006,Pyridoxine-dependent-developmental and epileptic encephalopathy,"Antenatal, Infancy, Neonatal",Autosomal recessive
780,Rhabdomyosarcoma,Childhood,Multigenic/multifactorial
3111,Rotor syndrome,All ages,Autosomal recessive
2382,Lennox-Gastaut syndrome,"Childhood, Infancy","Autosomal dominant, Multigenic/multifactorial, Not applicable"
2806,Subacute sclerosing leukoencephalitis,All ages,Not applicable
2467,Systemic mastocytosis,All ages,Not applicable
1934,Early infantile developmental and epileptic encephalopathy,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
845,Tay-Sachs disease,All ages,Autosomal recessive
1942,Epilepsy with myoclonic-atonic seizures,Childhood,Unknown
1943,Early-onset progressive encephalopathy with migrant continuous myoclonus,Childhood,Unknown
3299,Tetanus,All ages,
2302,Asbestos intoxication,All ages,
770,Rabies,All ages,Not applicable
3386,American trypanosomiasis,All ages,Not applicable
267,Calpain-3-related limb-girdle muscular dystrophy R1,"Adolescent, Adult, Childhood",Autosomal recessive
1329,Complete atrioventricular septal defect,"Infancy, Neonatal",Not applicable
582,Mucopolysaccharidosis type 4,"Childhood, Infancy",Autosomal recessive
2137,Autoimmune hepatitis,"Adolescent, Adult, Childhood, Elderly",Not applicable
186,Primary biliary cholangitis,"Adolescent, Adult, Elderly","Multigenic/multifactorial, Unknown"
397,Giant cell arteritis,Adult,Multigenic/multifactorial
2932,Chronic inflammatory demyelinating polyneuropathy,"Adolescent, Adult, Childhood, Elderly",Not applicable
2398,Multiple symmetric lipomatosis,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable"
1656,Dermatitis herpetiformis,All ages,Not applicable
3198,Stiff person spectrum disorder,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
2929,Juvenile polyposis syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
131,Budd-Chiari syndrome,All ages,Multigenic/multifactorial
646,Niemann-Pick disease type C,All ages,Autosomal recessive
654,Nephroblastoma,Childhood,"Autosomal dominant, Not applicable"
1489,Whooping cough,All ages,
2764,Osteochondritis dissecans,All ages,Not applicable
2587,Myeloperoxidase deficiency,All ages,Autosomal recessive
3389,Tuberculosis,All ages,Not applicable
1679,Diphtheria,All ages,
1267,Botulism,All ages,Not applicable
2897,Pityriasis rubra pilaris,All ages,"Autosomal dominant, Not applicable"
2103,Guillain-Barré syndrome,All ages,Multigenic/multifactorial
2070,Eosinophilic gastroenteritis,All ages,Not applicable
2312,Transient familial neonatal hyperbilirubinemia,Neonatal,
183707,Infantile LAD-like disease due to RAC2 deficiency,"Infancy, Neonatal",Autosomal dominant
2314,Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency,"Infancy, Neonatal",Autosomal dominant
183678,Hermansky-Pudlak syndrome due to AP-3 deficiency,Neonatal,Autosomal recessive
449,Hepatoblastoma,"Childhood, Infancy, Neonatal",Not applicable
183675,Recurrent infections associated with rare immunoglobulin isotypes deficiency,Childhood,Unknown
2177,Hydranencephaly,"Antenatal, Neonatal","Autosomal recessive, Unknown"
533,Listeriosis,All ages,Not applicable
2372,Laryngocele,All ages,
2380,Legg-Calvé-Perthes disease,Childhood,"Autosomal dominant, Multigenic/multifactorial"
683,Progressive supranuclear palsy,"Adult, Elderly",Not applicable
677,Pancreatoblastoma,"Adult, Childhood",Not applicable
183660,Severe combined immunodeficiency,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
897,Waardenburg-Shah syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
808,Seckel syndrome,Antenatal,Autosomal recessive
3027,Caudal regression syndrome,"Antenatal, Neonatal","Multigenic/multifactorial, Not applicable"
676,Autosomal dominant hereditary chronic pancreatitis,"Adolescent, Childhood",Autosomal dominant
643,Giant axonal neuropathy,"Childhood, Infancy",Autosomal recessive
634,Netherton syndrome,"Infancy, Neonatal",Autosomal recessive
140,Campomelic dysplasia,"Antenatal, Neonatal",Autosomal dominant
2828,Young-onset Parkinson disease,Adult,Autosomal recessive
642,Hereditary sensory and autonomic neuropathy type 4,"Childhood, Infancy, Neonatal",Autosomal recessive
627,Nance-Horan syndrome,Neonatal,X-linked dominant
638,Neurofibromatosis-Noonan syndrome,"Infancy, Neonatal",Autosomal dominant
326,Congenital factor V deficiency,All ages,Autosomal recessive
526,Liddle syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
650,LCAT deficiency,All ages,Autosomal recessive
427,Familial hypoaldosteronism,"Adolescent, Adult, Infancy, Neonatal",Autosomal recessive
215,Congenital stationary night blindness,Neonatal,"Autosomal dominant, Autosomal recessive, X-linked recessive"
342,Familial Mediterranean fever,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
180,Choroideremia,"Adolescent, Adult, Childhood",X-linked recessive
754,Androgen insensitivity syndrome,"Antenatal, Neonatal",X-linked recessive
253,Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia,All ages,
327,Congenital factor VII deficiency,All ages,"Autosomal dominant, Autosomal recessive"
373,Simpson-Golabi-Behmel syndrome,"Antenatal, Childhood, Infancy, Neonatal",X-linked recessive
403,Familial hyperaldosteronism type I,"Adolescent, Adult, Childhood",Autosomal dominant
574,21q deletion syndrome,"Antenatal, Neonatal",
653,Multiple endocrine neoplasia type 2,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
146,Differentiated thyroid carcinoma,"Adolescent, Adult, Childhood",Not applicable
1331,Familial prostate cancer,Adult,Not applicable
157,Carnitine palmitoyltransferase II deficiency,All ages,Autosomal recessive
847,X-linked alpha-thalassemia-intellectual disability syndrome,"Infancy, Neonatal",X-linked recessive
1446,Ring chromosome 22 syndrome,"Infancy, Neonatal",
2268,ICF syndrome,Childhood,Autosomal recessive
475,Isolated Joubert syndrome,Antenatal,Autosomal recessive
392,Holt-Oram syndrome,"Antenatal, Neonatal",Autosomal dominant
113,Bazex-Dupré-Christol syndrome,"Infancy, Neonatal",X-linked dominant
86,Familial abdominal aortic aneurysm,"Adult, Elderly",
243,"46,XX gonadal dysgenesis","Adolescent, Adult","Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
183422,Polymalformative genetic syndrome with increased risk of developing cancer,All ages,"Autosomal dominant, Autosomal recessive"
136,Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy,Adult,Autosomal dominant
48,Congenital bilateral absence of vas deferens,"Adolescent, Adult",Multigenic/multifactorial
528,Congenital generalized lipodystrophy,"Childhood, Infancy, Neonatal",Autosomal recessive
275,Severe combined immunodeficiency due to DCLRE1C deficiency,"Infancy, Neonatal",Autosomal recessive
182090,Pulmonary arterial hypertension,All ages,"Autosomal dominant, Not applicable"
184,Cherubism,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable"
1047,Sideroblastic anemia,All ages,"Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked dominant, X-linked recessive"
71,Chylomicron retention disease,"Childhood, Infancy",Autosomal recessive
1949,Self-limited neonatal epilepsy,Neonatal,Autosomal dominant
189,Hidrotic ectodermal dysplasia,Childhood,Autosomal dominant
1473,Uveal coloboma-cleft lip and palate-intellectual disability,Neonatal,Autosomal dominant
1344,Isolated atrial standstill,Adult,"Autosomal dominant, Not applicable"
182050,MYH9-related syndromic thrombocytopenia,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
3103,Roberts syndrome,"Antenatal, Neonatal",Autosomal recessive
181428,Familial Hyperalphalipoproteinemia,,Autosomal dominant
709,Peters plus syndrome,"Antenatal, Neonatal",Autosomal recessive
776,Lujan-Fryns syndrome,"Infancy, Neonatal",X-linked recessive
902,Werner syndrome,"Adolescent, Adult",Autosomal recessive
888,Van der Woude syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
871,Hereditary progressive cardiac conduction defect,Adult,Autosomal dominant
1597,Distal deletion 17q syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
1590,Distal deletion 13q syndrome,"Antenatal, Infancy, Neonatal",
1587,Monosomy 13q14 syndrome,"Infancy, Neonatal",Not applicable
1621,3q13 microdeletion syndrome,"Antenatal, Neonatal",Not applicable
1620,Distal deletion 3p syndrome,"Antenatal, Neonatal",
1643,Xp22.3 microdeletion syndrome,Neonatal,Not applicable
1627,Deletion 5q35 syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
1699,Trisomy 12p syndrome,Neonatal,"Not applicable, Unknown"
1695,Non-distal duplication 10q syndrome,Neonatal,
500,Noonan syndrome with multiple lentigines,Neonatal,Autosomal dominant
507,Leishmaniasis,All ages,Not applicable
548,Leprosy,All ages,Multigenic/multifactorial
233,Duane retraction syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
657,Congenital isolated hyperinsulinism,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
2495,Meningioma,All ages,Not applicable
569,Familial or sporadic hemiplegic migraine,Childhood,Autosomal dominant
2014,Cleft palate,"Antenatal, Neonatal","Multigenic/multifactorial, Not applicable"
240,Léri-Weill dyschondrosteosis,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
2311,Autosomal recessive spondylocostal dysostosis,"Antenatal, Neonatal",Autosomal recessive
358,Gitelman syndrome,Childhood,Autosomal recessive
242,"46,XY complete gonadal dysgenesis","Adolescent, Adult","Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked"
2052,Fraser syndrome,"Antenatal, Neonatal",Autosomal recessive
1354,Heart defects-limb shortening syndrome,Neonatal,Autosomal recessive
1358,Carey-Fineman-Ziter syndrome,Neonatal,Autosomal recessive
557,Non-syndromic anorectal malformation,"Antenatal, Neonatal",
111,Barth syndrome,Childhood,X-linked recessive
10,"48,XXYY syndrome","Adolescent, Childhood, Infancy, Neonatal","Not applicable, Unknown"
1308,C syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
150,Nasopharyngeal carcinoma,All ages,"Multigenic/multifactorial, Not applicable"
133,Chronic beryllium disease,Adult,Not applicable
1552,Currarino syndrome,All ages,"Autosomal dominant, Not applicable"
1450,Ring chromosome 8 syndrome,"Antenatal, Neonatal",
1448,Ring chromosome 6 syndrome,"Antenatal, Infancy, Neonatal",
1581,Non-distal deletion 10q syndrome,"Antenatal, Neonatal",
1580,Distal deletion 10p syndrome,Childhood,"Not applicable, Unknown"
1437,Ring chromosome 1 syndrome,Neonatal,
172,Progressive familial intrahepatic cholestasis,"Adolescent, Childhood, Infancy, Neonatal",Autosomal recessive
1447,Ring chromosome 4 syndrome,"Infancy, Neonatal",
1444,Ring chromosome 20 syndrome,"Adolescent, Adult, Childhood, Infancy",Unknown
1439,Ring chromosome 12 syndrome,"Infancy, Neonatal",
1438,Ring chromosome 10 syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
624,Familial multiple nevi flammei,Neonatal,Autosomal dominant
3306,Inverted duplicated chromosome 15 syndrome,Neonatal,"Not applicable, Unknown"
3375,Trisomy X syndrome,"Childhood, Infancy",Not applicable
3310,Tetrasomy 9p syndrome,"Antenatal, Neonatal",
3000,Familial peripheral male-limited precocious puberty,Childhood,Autosomal dominant
3305,Tetraploidy syndrome,"Antenatal, Neonatal",
3176,Spina bifida-hypospadias syndrome,"Antenatal, Infancy, Neonatal",
1708,Mosaic trisomy 16 syndrome,"Antenatal, Neonatal",
1711,Mosaic trisomy 17 syndrome,"Antenatal, Neonatal",
3376,Triploidy syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
1692,Mosaic trisomy 1 syndrome,Neonatal,
1698,Mosaic trisomy 12 syndrome,"Antenatal, Neonatal",
1706,Mosaic trisomy 15 syndrome,"Antenatal, Neonatal",
916,Aase-Smith syndrome type 1,"Antenatal, Neonatal",Autosomal dominant
920,Ablepharon macrostomia syndrome,"Antenatal, Neonatal",Autosomal dominant
1445,Ring chromosome 21 syndrome,"Antenatal, Neonatal",
7,3C syndrome,"Antenatal, Infancy, Neonatal","Autosomal recessive, X-linked recessive"
931,Isolated acheiropodia,"Antenatal, Neonatal",Autosomal recessive
929,Achalasia-microcephaly syndrome,Neonatal,Autosomal recessive
869,Triple A syndrome,All ages,Autosomal recessive
2297,Insulin-resistance syndrome type A,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive"
922,Familial nasal acilia,Neonatal,
921,Abruzzo-Erickson syndrome,Antenatal,X-linked recessive
27,Vitamin B12-unresponsive methylmalonic acidemia,"Childhood, Infancy, Neonatal",Autosomal recessive
939,3-hydroxyisobutyric aciduria,"Antenatal, Neonatal",
31,Oxoglutaric aciduria,Neonatal,Autosomal recessive
935,Short-limb skeletal dysplasia with severe combined immunodeficiency,"Infancy, Neonatal",Not applicable
932,Achondrogenesis,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
37,Acrodermatitis enteropathica,"Infancy, Neonatal",Autosomal recessive
950,Acrodysostosis,"Antenatal, Neonatal",Autosomal dominant
949,Acrocraniofacial dysostosis,"Antenatal, Neonatal",Autosomal recessive
945,Acalvaria,"Antenatal, Neonatal",Not applicable
957,Acropectorovertebral dysplasia,"Antenatal, Neonatal",Autosomal dominant
958,Acro-renal-mandibular syndrome,"Antenatal, Neonatal",Autosomal recessive
955,Hajdu-Cheney syndrome,"Childhood, Infancy",Autosomal dominant
952,"Acrofacial dysostosis, Weyers type",Neonatal,Autosomal dominant
1702,Non-distal duplication 13q syndrome,"Antenatal, Neonatal",
1703,Mosaic trisomy 14 syndrome,"Antenatal, Neonatal",
1705,Distal duplication 14q syndrome,"Antenatal, Neonatal",
1713,17p11.2 microduplication syndrome,"Childhood, Infancy, Neonatal",Not applicable
1738,Trisomy 4p syndrome,"Antenatal, Infancy, Neonatal",
1742,Trisomy 5p syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
1745,Distal duplication 6p syndrome,"Antenatal, Neonatal",
1752,Trisomy 8q syndrome,Neonatal,Unknown
1762,Proximal Xq28 duplication syndrome,"Antenatal, Neonatal",
1878,TRIM32-related limb-girdle muscular dystrophy R8,"Adolescent, Adult, Childhood",Autosomal recessive
1876,Oculogastrointestinal muscular dystrophy,Childhood,Autosomal recessive
1948,Epilepsy-microcephaly-skeletal dysplasia syndrome,Neonatal,Autosomal recessive
1946,Amelocerebrohypohidrotic syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
1951,Epilepsy-telangiectasia syndrome,Childhood,Autosomal recessive
381,Griscelli syndrome,"Childhood, Infancy",Autosomal recessive
2604,Familial visceral myopathy,All ages,Autosomal dominant
156,Carnitine palmitoyl transferase 1A deficiency,"Infancy, Neonatal",Autosomal recessive
2597,Mitochondrial myopathy-lactic acidosis-deafness syndrome,Childhood,No data available
2598,Mitochondrial myopathy and sideroblastic anemia,"Adolescent, Childhood, Infancy",Autosomal recessive
1078,Thumb stiffness-brachydactyly-intellectual disability syndrome,"Infancy, Neonatal",Autosomal dominant
1077,Dental ankylosis,"Adolescent, Adult, Childhood, Elderly",
1074,Ankyloblepharon filiforme adnatum-imperforate anus syndrome,Neonatal,Unknown
1072,Ankyloblepharon filiforme adnatum-cleft palate syndrome,Neonatal,Autosomal dominant
1071,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,Neonatal,Autosomal dominant
1069,Aniridia-absent patella syndrome,"Antenatal, Neonatal",Autosomal dominant
1068,Aniridia-intellectual disability syndrome,Childhood,Autosomal dominant
1067,Aniridia-ptosis-intellectual disability-familial obesity syndrome,Childhood,Autosomal dominant
1064,Aniridia-renal agenesis-psychomotor retardation syndrome,Neonatal,Autosomal recessive
1062,Hereditary neurocutaneous malformation,"Childhood, Infancy",Autosomal dominant
1053,Vein of Galen malformation,"Antenatal, Infancy, Neonatal",Not applicable
1055,Congenital left ventricular aneurysm,"Antenatal, Neonatal",
1052,Mosaic variegated aneuploidy syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
1040,Metaphyseal anadysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
1041,Hydrops fetalis,Antenatal,Not applicable
1037,Arthrogryposis multiplex congenita,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
1126,Aprosencephaly cerebellar dysgenesis,Antenatal,
1125,"Ocular motor apraxia, Cogan type",Childhood,Autosomal recessive
1121,Radial deficiency-tibial hypoplasia syndrome,Antenatal,
1120,Lung agenesis-heart defect-thumb anomalies syndrome,Antenatal,
1122,Ulnar hypoplasia-split foot syndrome,Neonatal,
1116,Aplasia cutis congenita-intestinal lymphangiectasia syndrome,Neonatal,Autosomal recessive
1118,Fibular aplasia-ectrodactyly syndrome,Neonatal,Autosomal dominant
1117,Aplasia cutis-myopia syndrome,Neonatal,Autosomal recessive
1110,Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,"Infancy, Neonatal",Autosomal dominant
1113,Aphalangy-syndactyly-microcephaly syndrome,"Antenatal, Neonatal",Autosomal dominant
1112,Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,Neonatal,Autosomal recessive
1106,Microphthalmia with limb anomalies,"Antenatal, Neonatal",Autosomal recessive
83,Antley-Bixler syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
1104,Anophthalmia plus syndrome,"Antenatal, Neonatal",Autosomal recessive
1094,Anonychia-microcephaly syndrome,Neonatal,Autosomal recessive
991,PAGOD syndrome,Neonatal,Not applicable
990,Agnathia-holoprosencephaly-situs inversus syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
989,Hypoglossia-hypodactyly syndrome,"Antenatal, Neonatal",Unknown
994,Fetal akinesia deformation sequence,"Antenatal, Neonatal",Autosomal recessive
51,Aicardi-Goutières syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
981,Internal carotid absence,All ages,Not applicable
978,ADULT syndrome,"Antenatal, Neonatal",Autosomal dominant
977,Adrenomyodystrophy,"Infancy, Neonatal",Unknown
988,Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
983,Testicular regression syndrome,Neonatal,Autosomal recessive
970,Hereditary sensory and autonomic neuropathy type 2,"Infancy, Neonatal",Autosomal recessive
971,Acrorenal syndrome,Neonatal,Autosomal recessive
40,"Acromesomelic dysplasia, Maroteaux type","Infancy, Neonatal",Autosomal recessive
969,Acromicric dysplasia,Neonatal,Autosomal dominant
974,Adams-Oliver syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
972,Hereditary continuous muscle fiber activity,"Childhood, Infancy",Autosomal dominant
973,"Isolated absence/hypoplasia of fingers excluding thumb, unilateral","Antenatal, Neonatal","Autosomal dominant, Not applicable"
959,Acro-renal-ocular syndrome,"Antenatal, Neonatal",Autosomal dominant
968,"Acromesomelic dysplasia, Hunter-Thompson type","Antenatal, Neonatal",Autosomal recessive
139411,Carney triad,"Adolescent, Adult",
139414,Congenital panfollicular nevus,"Infancy, Neonatal",
1028,Amelo-onycho-hypohidrotic syndrome,No data available,
139417,Acute transverse myelitis,"Adolescent, Adult, Childhood, Elderly, Infancy",
1031,Enamel-renal syndrome,Childhood,Autosomal recessive
139423,Idiopathic acute transverse myelitis,All ages,Not applicable
139426,Perioral myoclonia with absences,Childhood,
139431,Epilepsy with eyelid myoclonia,Childhood,Unknown
1035,Beta-mercaptolactate cysteine disulfiduria,No data available,
139436,Multicentric reticulohistiocytosis,Adult,Not applicable
1021,Amaurosis-hypertrichosis syndrome,Neonatal,Autosomal recessive
64,Alström syndrome,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
1023,"Congenital generalized hypertrichosis, Ambras type",Neonatal,Unknown
139390,Non-syndromic craniosynostosis,"Infancy, Neonatal",
139396,X-linked cerebral adrenoleukodystrophy,All ages,X-linked recessive
139399,Adrenomyeloneuropathy,Adult,X-linked recessive
139402,Drug reaction with eosinophilia and systemic symptoms,All ages,Not applicable
139406,Encephalopathy due to prosaposin deficiency,"Infancy, Neonatal",Autosomal recessive
1008,Alopecia-epilepsy-pyorrhea-intellectual disability syndrome,Neonatal,Autosomal dominant
701,Alopecia universalis,All ages,"Autosomal recessive, Multigenic/multifactorial"
1010,Autosomal dominant palmoplantar keratoderma and congenital alopecia,"Infancy, Neonatal",Autosomal dominant
1014,Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,Neonatal,Unknown
1001,2q37 microdeletion syndrome,Neonatal,"Autosomal dominant, Not applicable"
59,Allan-Herndon-Dudley syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
1003,Scalp defects-postaxial polydactyly syndrome,Neonatal,Autosomal dominant
1005,Alopecia-contractures-dwarfism-intellectual disability syndrome,"Antenatal, Neonatal",Autosomal recessive
1253,Ascher syndrome,Neonatal,Not applicable
1252,Blepharonasofacial malformation syndrome,Childhood,"Autosomal dominant, X-linked dominant"
1248,Maxillonasal dysplasia,Neonatal,"Autosomal dominant, Autosomal recessive, Multigenic/multifactorial"
127,Borjeson-Forssman-Lehmann syndrome,Neonatal,X-linked recessive
1264,Tricho-retino-dento-digital syndrome,Neonatal,Autosomal dominant
1262,Böök syndrome,Adult,Autosomal dominant
1263,Boomerang dysplasia,"Antenatal, Neonatal",Not applicable
1259,Blepharoptosis-myopia-ectopia lentis syndrome,Childhood,Autosomal dominant
1261,Bonnemann-Meinecke-Reich syndrome,"Infancy, Neonatal",Autosomal recessive
1234,Bartsocas-Papas syndrome,"Antenatal, Neonatal",Autosomal recessive
1231,Barber-Say syndrome,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable"
1229,Pseudo-TORCH syndrome type 1,"Antenatal, Neonatal",Autosomal recessive
109,Bannayan-Riley-Ruvalcaba syndrome,"Infancy, Neonatal",Autosomal dominant
1228,Banki syndrome,Neonatal,Autosomal dominant
1241,Bencze syndrome,Childhood,Autosomal dominant
1239,Behr syndrome,,Autosomal recessive
1237,Beemer-Ertbruggen syndrome,Neonatal,Autosomal recessive
114,Auriculoosteodysplasia,Neonatal,Autosomal dominant
115,Congenital contractural arachnodactyly,Neonatal,Autosomal dominant
1236,Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,Neonatal,No data available
137622,Intractable diarrhea-choanal atresia-eye anomalies syndrome,"Infancy, Neonatal",
1292,Brachymorphism-onychodysplasia-dysphalangism syndrome,Neonatal,Autosomal dominant
137628,Cardiac anomalies-heterotaxy syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
1293,Brachyolmia,Childhood,"Autosomal dominant, Autosomal recessive"
137625,Glycogen storage disease due to muscle and heart glycogen synthase deficiency,Childhood,Autosomal recessive
137608,Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,Neonatal,Not applicable
1299,Branchioskeletogenital syndrome,Neonatal,"Autosomal recessive, X-linked dominant"
1300,Autosomal dominant popliteal pterygium syndrome,"Antenatal, Neonatal",Autosomal dominant
137667,Capillary malformation-arteriovenous malformation,"Infancy, Neonatal","Autosomal dominant, Not applicable"
137634,Overgrowth-macrocephaly-facial dysmorphism syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
1295,Brachytelephalangy-dysmorphism-Kallmann syndrome,Neonatal,Autosomal dominant
137631,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",Infancy,
1296,Lambert syndrome,Neonatal,Unknown
1297,Branchio-oculo-facial syndrome,"Antenatal, Neonatal",Autosomal dominant
137639,Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome,"Infancy, Neonatal",Autosomal recessive
137577,Neonatal hypoxic and ischemic brain injury,"Infancy, Neonatal",Not applicable
137583,Vulvar intraepithelial neoplasia,"Adult, Elderly",Not applicable
1276,Brachydactyly-arterial hypertension syndrome,Neonatal,Autosomal dominant
1275,Brachydactyly-elbow wrist dysplasia syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
1270,Bowen-Conradi syndrome,"Antenatal, Neonatal",Autosomal recessive
137605,Legius syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
137596,Neurotrophic keratopathy,"Adult, Childhood",Not applicable
1278,Brachydactyly-preaxial hallux varus syndrome,Neonatal,Autosomal dominant
137599,Herpes simplex virus stromal keratitis,All ages,Not applicable
1166,Congenital unilateral hypoplasia of depressor anguli oris,Neonatal,Autosomal dominant
1168,Ataxia-oculomotor apraxia type 1,Childhood,Autosomal recessive
1160,Chylous ascites,All ages,
137817,Arachnoiditis,All ages,Not applicable
1174,Cerebellar ataxia-ectodermal dysplasia syndrome,Neonatal,Autosomal recessive
137839,Lemierre syndrome,Adolescent,
137834,Frank-Ter Haar syndrome,"Antenatal, Neonatal",Autosomal recessive
137831,X-linked intellectual disability-cerebellar hypoplasia syndrome,"Infancy, Neonatal",X-linked dominant
1170,Autosomal recessive cerebelloparenchymal disorder type 3,"Adolescent, Childhood, Infancy",Autosomal recessive
1178,Ataxia-tapetoretinal degeneration syndrome,"Adolescent, Childhood, Infancy",Unknown
1175,X-linked progressive cerebellar ataxia,Childhood,X-linked recessive
1180,Ataxia-hypogonadism-choroidal dystrophy syndrome,Childhood,Autosomal recessive
1179,Benign paroxysmal tonic upgaze of childhood with ataxia,"Infancy, Neonatal",
1173,Cerebellar ataxia-hypogonadism syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
137867,Madras motor neuron disease,"Adolescent, Adult, Childhood","Not applicable, X-linked recessive"
137681,Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,Neonatal,Autosomal recessive
1133,AREDYLD syndrome,Neonatal,Autosomal recessive
137675,Histiocytoid cardiomyopathy,"Infancy, Neonatal","Autosomal recessive, Unknown, X-linked dominant"
1131,X-linked mandibulofacial dysostosis,Neonatal,X-linked recessive
137678,Spondyloepiphyseal dysplasia with metatarsal shortening,"Adolescent, Childhood",Autosomal dominant
137698,Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk,All ages,Not applicable
137754,Aminoacylase 1 deficiency,Childhood,Autosomal recessive
1145,Infantile-onset X-linked spinal muscular atrophy,Neonatal,X-linked recessive
1144,Arthrogryposis-like hand anomaly-sensorineural deafness syndrome,Neonatal,Unknown
137686,Asherman syndrome,Adult,Not applicable
137776,Lethal congenital contracture syndrome type 2,"Antenatal, Neonatal",Autosomal recessive
1150,Arthrogryposis multiplex congenita-whistling face syndrome,"Antenatal, Neonatal",Autosomal recessive
1149,Kuskokwim syndrome,"Childhood, Neonatal",Autosomal recessive
137807,Primary cutaneous amyloidosis,All ages,"Autosomal dominant, Not applicable"
1159,Progressive pseudorheumatoid dysplasia,Childhood,Autosomal recessive
137783,Lethal congenital contracture syndrome type 3,"Antenatal, Neonatal",Autosomal recessive
1214,Progressive hemifacial atrophy,"Adolescent, Adult, Childhood",Not applicable
1215,Autosomal dominant optic atrophy plus syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
1216,Autosomal dominant congenital benign spinal muscular atrophy,"Antenatal, Neonatal",Autosomal dominant
1221,Cheilitis glandularis,"Adolescent, Adult, Childhood, Elderly",Not applicable
1225,Baller-Gerold syndrome,"Antenatal, Neonatal",Autosomal recessive
1226,Bamforth-Lazarus syndrome,"Antenatal, Neonatal",Autosomal recessive
1227,Bangstad syndrome,Neonatal,Autosomal recessive
1184,Ataxia-photosensitivity-short stature syndrome,"Childhood, Infancy",Unknown
1182,Spastic ataxia with congenital miosis,"Adolescent, Childhood, Infancy, Neonatal",Autosomal dominant
137888,Auriculocondylar syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
137893,Male infertility due to large-headed multiflagellar polyploid spermatozoa,,Autosomal recessive
1186,Infantile-onset spinocerebellar ataxia,Infancy,Autosomal recessive
1185,Spinocerebellar ataxia-dysmorphism syndrome,Infancy,Autosomal recessive
137898,Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
1188,Ataxia-deafness-intellectual disability syndrome,"Childhood, Infancy",Unknown
1187,Lethal ataxia with deafness and optic atrophy,"Infancy, Neonatal",X-linked recessive
1190,Atelosteogenesis type I,"Antenatal, Neonatal",Autosomal dominant
137908,Hypotonia with lactic acidemia and hyperammonemia,"Antenatal, Neonatal",Autosomal recessive
137914,Choanal atresia,"Childhood, Infancy, Neonatal",Not applicable
1193,Atkin-Flaitz syndrome,Neonatal,X-linked dominant
137917,"Choanal atresia, unilateral","Infancy, Neonatal",Not applicable
1200,Burn-McKeown syndrome,Neonatal,Autosomal recessive
137920,"Choanal atresia, bilateral","Infancy, Neonatal",Not applicable
1198,Colonic atresia,"Antenatal, Neonatal",Not applicable
137926,Primary laryngeal lymphangioma,"Infancy, Neonatal",
1203,Duodenal atresia,"Antenatal, Childhood, Infancy, Neonatal",Unknown
1208,Pulmonary atresia-intact ventricular septum syndrome,"Antenatal, Infancy, Neonatal",
137932,Congenital laryngeal palsy,Neonatal,
137935,Airway infantile hemangioma,Infancy,Not applicable
1449,Ring chromosome 7 syndrome,"Antenatal, Neonatal",
141242,Paramedian nasal cleft,"Antenatal, Neonatal",
1453,Cleidorhizomelic syndrome,Neonatal,Autosomal dominant
1440,Ring chromosome 14 syndrome,Childhood,"Not applicable, Unknown"
141234,Median facial cleft,"Antenatal, Neonatal",
1443,Ring chromosome 19 syndrome,Antenatal,
141261,Tessier number 5 facial cleft,"Antenatal, Neonatal",
141258,Tessier number 4 facial cleft,"Antenatal, Neonatal",Unknown
1458,CODAS syndrome,"Infancy, Neonatal",Autosomal recessive
141253,Oblique facial cleft,"Infancy, Neonatal",
1454,Joubert syndrome with hepatic defect,Neonatal,Autosomal recessive
190,Coats disease,Childhood,Not applicable
1429,Benign hereditary chorea,"Childhood, Infancy",Autosomal dominant
1426,Greenberg dysplasia,"Antenatal, Neonatal",Autosomal recessive
141184,Rapidly involuting congenital hemangioma,Antenatal,Not applicable
1427,Autosomal recessive otospondylomegaepiphyseal dysplasia,"Antenatal, Neonatal",Autosomal recessive
1435,Xq21 microdeletion syndrome,"Infancy, Neonatal",X-linked recessive
1436,X-linked skeletal dysplasia-intellectual disability syndrome,Neonatal,X-linked recessive
141214,Isolated congenital syngnathia,Neonatal,
141209,Diffuse lymphatic malformation,"Infancy, Neonatal",Not applicable
1433,Choroidal atrophy-alopecia syndrome,Neonatal,Unknown
1484,Contractures-ectodermal dysplasia-cleft lip/palate syndrome,Neonatal,"Autosomal recessive, X-linked recessive"
141333,Biemond syndrome type 2,"Antenatal, Neonatal",Unknown
1490,Corneal dystrophy-perceptive deafness syndrome,Neonatal,Autosomal recessive
1487,Cooks syndrome,Neonatal,Autosomal dominant
155867,Paramedian facial cleft,"Antenatal, Neonatal",
1486,Lethal congenital contracture syndrome type 1,"Antenatal, Neonatal",Autosomal recessive
141276,Tessier number 7 facial cleft,"Antenatal, Neonatal",Autosomal dominant
141265,Tessier number 6 facial cleft,"Antenatal, Neonatal",
1466,COFS syndrome,"Antenatal, Neonatal",Autosomal recessive
141269,Lateral facial cleft,"Antenatal, Neonatal",
1471,Coloboma of macula-brachydactyly type B syndrome,"Antenatal, Neonatal",Autosomal dominant
141288,Midline cervical cleft,,Not applicable
141291,Cleft lip and alveolus,"Infancy, Neonatal",Multigenic/multifactorial
141091,Polyrrhinia,"Antenatal, Neonatal",Not applicable
141083,Nasolacrimal duct cyst,"Adult, Infancy, Neonatal",Not applicable
1410,Uncombable hair syndrome,Childhood,Autosomal recessive
141099,Proboscis lateralis,"Antenatal, Infancy, Neonatal",Not applicable
141096,Supernumerary nostril,"Antenatal, Neonatal",Not applicable
1412,Tarsal-carpal coalition syndrome,Neonatal,Autosomal dominant
141115,Nasal ganglioglioma,"Antenatal, Neonatal",
1416,Familial calcium pyrophosphate deposition,Adult,"Autosomal dominant, Not applicable"
141112,Nasal glial heterotopia,,Not applicable
1394,Cerebrofaciothoracic dysplasia,"Antenatal, Neonatal",Autosomal recessive
1397,Hydrocephaly-cerebellar agenesis syndrome,Neonatal,X-linked recessive
1398,Isolated cerebellar agenesis,Childhood,
1399,Richards-Rundle syndrome,Infancy,Autosomal recessive
141077,Epignathus,"Antenatal, Neonatal",Not applicable
1401,CHAND syndrome,Neonatal,Autosomal recessive
141074,External auditory canal aplasia/hypoplasia,Neonatal,Autosomal dominant
141152,Isolated congenital hypoglossia/aglossia,"Infancy, Neonatal",
174,"Metaphyseal chondrodysplasia, Schmid type","Childhood, Infancy, Neonatal",Autosomal dominant
141163,Glossopalatine ankylosis,"Infancy, Neonatal",Not applicable
1425,Desbuquois syndrome,"Antenatal, Neonatal",Autosomal recessive
141179,Non-involuting congenital hemangioma,Antenatal,Not applicable
141118,Nasal encephalocele,,Unknown
141121,Congenital subglottic stenosis,Neonatal,
141124,Congenital laryngeal cyst,"Infancy, Neonatal",
141127,Congenital tracheal stenosis,"Infancy, Neonatal",Not applicable
141132,Oculo-auriculo-vertebral spectrum,"Antenatal, Neonatal",Not applicable
141145,Hemifacial hyperplasia,"Antenatal, Infancy, Neonatal",Not applicable
141148,Hemifacial myohyperplasia,Neonatal,
156728,"Spondyloepimetaphyseal dysplasia, matrilin-3 type","Antenatal, Neonatal",Autosomal recessive
1375,Cataract-hypertrichosis-intellectual disability syndrome,Neonatal,Autosomal recessive
163,Hereditary hyperferritinemia-cataract syndrome,All ages,Autosomal dominant
1373,Cataract-aberrant oral frenula-growth delay syndrome,Childhood,
1368,Cataract-ataxia-deafness syndrome,Neonatal,Autosomal recessive
1366,Autosomal recessive palmoplantar keratoderma and congenital alopecia,Neonatal,Autosomal recessive
1361,Carnosinase deficiency,Infancy,Autosomal recessive
1393,Cerebrocostomandibular syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
157826,Congenital epulis,"Infancy, Neonatal",
1390,Night blindness-skeletal anomalies-dysmorphism syndrome,Childhood,
157820,Cold-induced sweating syndrome,"Adult, Childhood",Autosomal recessive
1389,Cortical blindness-intellectual disability-polydactyly syndrome,"Antenatal, Neonatal",Autosomal recessive
157798,Serrated polyposis syndrome,"Adult, Elderly","Autosomal dominant, Multigenic/multifactorial, Unknown"
1388,Catel-Manzke syndrome,"Antenatal, Neonatal",Autosomal recessive
157801,Mesoaxial synostotic syndactyly with phalangeal reduction,"Infancy, Neonatal",Autosomal recessive
1387,Cataract-intellectual disability-hypogonadism syndrome,Neonatal,Autosomal recessive
157791,Epithelioid hemangioendothelioma,"Adolescent, Adult, Childhood, Elderly",Not applicable
157794,Hereditary mixed polyposis syndrome,Childhood,Autosomal dominant
157769,Situs ambiguus,Antenatal,Multigenic/multifactorial
157716,Late infantile CACH syndrome,Childhood,Autosomal recessive
157719,Juvenile or adult CACH syndrome,"Adolescent, Adult",Autosomal recessive
1380,Cataract-nephropathy-encephalopathy syndrome,Neonatal,Autosomal recessive
157713,Congenital or early infantile CACH syndrome,"Infancy, Neonatal",Autosomal recessive
156731,"Dyssegmental dysplasia, Rolland-Desbuquois type","Antenatal, Neonatal",
1377,Cataract-microcornea syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
157215,Hereditary hypophosphatemic rickets with hypercalciuria,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
1325,Camptodactyly-taurinuria syndrome,Infancy,Autosomal dominant
1326,"Camptodactyly syndrome, Guadalajara type 2",Neonatal,Autosomal recessive
1327,"Camptodactyly syndrome, Guadalajara type 1",Neonatal,Autosomal recessive
1328,Camurati-Engelmann disease,"Adolescent, Adult, Childhood",Autosomal dominant
1321,Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome,Neonatal,
1323,Camptodactyly-joint contractures-facial skeletal defects syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
1314,Symmetrical thalamic calcifications,Neonatal,Not applicable
1318,"Campomelia, Cumming type","Antenatal, Neonatal",Autosomal recessive
1319,Camptobrachydactyly,Neonatal,Autosomal dominant
1305,Feingold syndrome,"Antenatal, Neonatal",Autosomal dominant
1307,Distal limb deficiencies-micrognathia syndrome,Neonatal,Autosomal recessive
1313,Infantile choroidocerebral calcification syndrome,"Infancy, Neonatal",Autosomal recessive
1350,Heart-hand syndrome type 2,"Infancy, Neonatal",
1355,Congenital heart defect-round face-developmental delay syndrome,"Infancy, Neonatal",
1352,Atrioventricular defect-blepharophimosis-radial and anal defect syndrome,Neonatal,
1342,Heart-hand syndrome type 3,Neonatal,
1345,Cardiomyopathy-cataract-hip spine disease syndrome,"Adolescent, Adult",Autosomal recessive
1338,Heart defect-tongue hamartoma-polysyndactyly syndrome,Neonatal,Autosomal recessive
1340,Cardiofaciocutaneous syndrome,"Antenatal, Neonatal",Autosomal dominant
2856,Persistent Müllerian duct syndrome,Infancy,Autosomal recessive
1336,Hyperkeratosis-hyperpigmentation syndrome,"Adolescent, Childhood, Infancy",Autosomal dominant
1335,Pentalogy of Cantrell,"Antenatal, Neonatal",Not applicable
1682,Arterial dissection-lentiginosis syndrome,Childhood,Unknown
1757,Fibular dimelia-diplopodia syndrome,Neonatal,Not applicable
1756,Caudal duplication,"Antenatal, Neonatal",Not applicable
1766,Dysequilibrium syndrome,Neonatal,Autosomal recessive
1777,Temtamy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
1780,Thakker-Donnai syndrome,"Antenatal, Neonatal",Autosomal recessive
1772,"45,X/46,XY mixed gonadal dysgenesis",All ages,"Not applicable, Unknown"
1784,Acrofrontofacionasal dysostosis,Neonatal,Autosomal recessive
1782,Dysosteosclerosis,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
1790,Hypomandibular faciocranial dysostosis,"Antenatal, Neonatal",Unknown
1786,"Acrofacial dysostosis, Catania type","Antenatal, Neonatal","Autosomal dominant, X-linked dominant"
1788,"Acrofacial dysostosis, Rodríguez type","Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
859,Transcobalamin deficiency,"Infancy, Neonatal",Autosomal recessive
139441,Hypomyelination with atrophy of basal ganglia and cerebellum,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
3196,Steroid dehydrogenase deficiency-dental anomalies syndrome,Childhood,Autosomal recessive
139444,Leukoencephalopathy with bilateral anterior temporal lobe cysts,"Infancy, Neonatal",Unknown
139447,Progressive cavitating leukoencephalopathy,"Childhood, Infancy",Autosomal recessive
1573,Hypotrichosis with juvenile macular degeneration,"Infancy, Neonatal",Autosomal recessive
726,Alpers-Huttenlocher syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
139450,Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,No data available,Autosomal dominant
139455,Autosomal recessive bestrophinopathy,All ages,Autosomal recessive
1574,Retinal degeneration-nanophthalmos-glaucoma syndrome,Adult,Autosomal recessive
139466,SERKAL syndrome,Antenatal,Autosomal recessive
1596,Distal deletion 15q syndrome,"Antenatal, Neonatal",
139471,Microphthalmia with brain and digit anomalies,Antenatal,Autosomal dominant
139474,17q11.2 microduplication syndrome,"Infancy, Neonatal",Autosomal dominant
1617,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion,"Antenatal, Neonatal",Not applicable
1606,1p36 deletion syndrome,"Antenatal, Neonatal","Multigenic/multifactorial, Not applicable"
139480,Autosomal recessive spastic paraplegia type 39,Childhood,Autosomal recessive
1647,Oculocerebrocutaneous syndrome,Neonatal,Not applicable
139485,Autosomal recessive ataxia due to ubiquinone deficiency,Childhood,Autosomal recessive
1653,Dentin dysplasia,All ages,Autosomal dominant
139507,Dietary iron overload disease,"Adult, Elderly",Not applicable
139515,Charcot-Marie-Tooth disease type 4J,"Adult, Childhood, Infancy",Autosomal recessive
139512,Neuropathy with hearing impairment,Adult,Autosomal dominant
1657,"Dermatoosteolysis, Kirghizian type",Infancy,Autosomal recessive
139525,Distal hereditary motor neuropathy type 2,"Adolescent, Adult",Autosomal dominant
1658,Absence of fingerprints-congenital milia syndrome,Childhood,Autosomal dominant
139518,Distal hereditary motor neuropathy type 1,"Adolescent, Adult, Childhood",Autosomal dominant
1659,Dermatoleukodystrophy,Neonatal,Autosomal recessive
139547,Distal spinal muscular atrophy type 3,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
139536,Distal hereditary motor neuropathy type 5,"Adolescent, Adult, Childhood",Autosomal dominant
1660,Dermoodontodysplasia,Childhood,Autosomal dominant
139557,X-linked distal spinal muscular atrophy type 3,"Adolescent, Adult, Childhood, Infancy",X-linked recessive
1661,X-linked corneal dermoid,Neonatal,X-linked recessive
1662,Restrictive dermopathy,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
139552,"Distal hereditary motor neuropathy, Jerash type",Childhood,Autosomal recessive
139573,Hereditary sensory and autonomic neuropathy with deafness and global delay,"Childhood, Infancy",Autosomal recessive
1665,Sporadic fetal brain disruption sequence,Antenatal,Not applicable
139564,Hereditary sensory and autonomic neuropathy type 1B,Adult,Autosomal dominant
139583,X-linked hereditary sensory and autonomic neuropathy with deafness,Childhood,X-linked recessive
1667,Wolcott-Rallison syndrome,"Infancy, Neonatal",Autosomal recessive
139578,Mutilating hereditary sensory neuropathy with spastic paraplegia,"Childhood, Infancy",Autosomal recessive
139589,Distal hereditary motor neuropathy type 7,"Adolescent, Adult, Childhood",Autosomal dominant
1671,Split cord malformation type I,"Adolescent, Adult, Childhood, Infancy",
140917,Stapes ankylosis with broad thumbs and toes,"Infancy, Neonatal",Autosomal dominant
1548,Cryptorchidism-arachnodactyly-intellectual disability syndrome,"Infancy, Neonatal",
1547,Cryptomicrotia-brachydactyly-excess fingertip arch syndrome,Neonatal,Autosomal dominant
140922,Titin-related limb-girdle muscular dystrophy R10,"Adolescent, Adult, Childhood",Autosomal recessive
1545,Crisponi syndrome,Neonatal,Autosomal recessive
140905,Hyperlipidemia due to hepatic triacylglycerol lipase deficiency,No data available,Autosomal recessive
1540,Jackson-Weiss syndrome,Neonatal,Autosomal dominant
140908,Brachydactyly type B2,Neonatal,Autosomal dominant
140874,Joubert syndrome and related disorders,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
140896,Severe acute respiratory syndrome,All ages,Not applicable
1532,Gómez-López-Hernández syndrome,Neonatal,Not applicable
140952,Syndactyly-telecanthus-anogenital and renal malformations syndrome,"Infancy, Neonatal",X-linked dominant
140957,Autosomal dominant macrothrombocytopenia,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal dominant
140944,CLOVES syndrome,"Infancy, Neonatal",Not applicable
140949,Low-flow priapism,All ages,Not applicable
1555,Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome,"Antenatal, Neonatal",Autosomal dominant
140936,Lelis syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
140941,Short stature due to primary acid-labile subunit deficiency,"Infancy, Neonatal",Autosomal recessive
1553,Curry-Jones syndrome,Neonatal,Not applicable
140927,Self-limited neonatal-infantile epilepsy,"Infancy, Neonatal",Autosomal dominant
140933,Linear atrophoderma of Moulin,Childhood,
140989,Primary angiitis of the central nervous system,All ages,Not applicable
1566,Dandy-Walker malformation-postaxial polydactyly syndrome,"Antenatal, Neonatal",Autosomal recessive
140976,RHYNS syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
1563,Dahlberg-Borer-Newcomer syndrome,Childhood,"Autosomal recessive, X-linked recessive"
140969,Saldino-Mainzer syndrome,Infancy,Autosomal recessive
140966,"Palmoplantar keratoderma, Nagashima type","Childhood, Infancy",Autosomal recessive
140963,Bilateral microtia-deafness-cleft palate syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
382,Guanidinoacetate methyltransferase deficiency,"Childhood, Infancy",Autosomal recessive
742,Prolidase deficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
1979,Lipodystrophy due to peptidic growth factors deficiency,Neonatal,Unknown
1571,Knobloch syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
141007,Orofaciodigital syndrome type 9,"Antenatal, Infancy, Neonatal",Autosomal recessive
1551,Familial benign copper deficiency,Infancy,
1568,X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome,"Antenatal, Neonatal",X-linked recessive
141000,Orofaciodigital syndrome type 11,Neonatal,Not applicable
1497,X-linked complicated corpus callosum dysgenesis,"Antenatal, Neonatal",X-linked recessive
140436,Familial intraosseous vascular malformation,,Autosomal recessive
140453,Autosomal dominant hereditary demyelinating motor and sensory neuropathy,,Autosomal dominant
1493,Vici syndrome,"Antenatal, Neonatal",Autosomal recessive
140286,Secondary hypoparathyroidism due to impaired parathormon secretion,"Adolescent, Adult, Childhood, Elderly",Not applicable
1495,Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,Neonatal,Autosomal recessive
140468,Autosomal recessive distal hereditary motor neuropathy,,Autosomal recessive
1509,Coxopodopatellar syndrome,"Infancy, Neonatal",Autosomal dominant
1512,Crane-Heise syndrome,"Antenatal, Neonatal",Autosomal recessive
140474,Autosomal dominant hereditary sensory and autonomic neuropathy,,Autosomal dominant
140477,Autosomal recessive hereditary sensory and autonomic neuropathy,,Autosomal recessive
1506,Thin ribs-tubular bones-dysmorphism syndrome,Neonatal,
140456,Autosomal dominant hereditary axonal motor and sensory neuropathy,,Autosomal dominant
140459,Autosomal recessive hereditary demyelinating motor and sensory neuropathy,,Autosomal recessive
1508,Coxoauricular syndrome,Neonatal,Unknown
140465,Autosomal dominant distal hereditary motor neuropathy,,Autosomal dominant
1507,Autosomal recessive Robinow syndrome,"Infancy, Neonatal",Autosomal recessive
1517,Cantú syndrome,Neonatal,"Autosomal dominant, Not applicable"
1519,SPECC1L-related hypertelorism syndrome,Neonatal,Autosomal dominant
1520,Craniofrontonasal dysplasia,"Antenatal, Neonatal",X-linked dominant
1513,Craniodiaphyseal dysplasia,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable"
1514,Craniodigital-intellectual disability syndrome,Neonatal,"Autosomal recessive, X-linked recessive"
140481,Autosomal dominant slowed nerve conduction velocity,Adult,Autosomal dominant
1515,Cranioectodermal dysplasia,"Antenatal, Neonatal",Autosomal recessive
1516,Non-syndromic bilambdoid and sagittal craniosynostosis,Neonatal,Autosomal recessive
1527,"Craniosynostosis, Philadelphia type",Neonatal,Autosomal dominant
1528,Craniotelencephalic dysplasia,Neonatal,
1529,Craniofacial-deafness-hand syndrome,Neonatal,Autosomal dominant
1521,Craniofrontonasal dysplasia-Poland anomaly syndrome,Neonatal,Unknown
1522,Craniometaphyseal dysplasia,Childhood,"Autosomal dominant, Autosomal recessive"
1525,Cranio-osteoarthropathy,Childhood,Autosomal recessive
1969,Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,No data available,Unknown
1968,Flat face-microstomia-ear anomaly syndrome,Neonatal,Unknown
1970,Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,Neonatal,Autosomal recessive
1973,Faciocardiorenal syndrome,Neonatal,Autosomal recessive
1972,Lethal faciocardiomelic dysplasia,Neonatal,Autosomal recessive
1974,Autosomal recessive faciodigitogenital syndrome,Neonatal,Autosomal recessive
1962,Exostoses-anetodermia-brachydactyly type E syndrome,Neonatal,Unknown
1964,Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,Neonatal,Autosomal dominant
1822,Dysplasia epiphysealis hemimelica,"Adolescent, Childhood",Autosomal dominant
1824,Lowry-Wood syndrome,Neonatal,Autosomal recessive
1952,Epiphyseal stippling-osteoclastic hyperplasia syndrome,"Antenatal, Neonatal",Autosomal recessive
1954,Congenital lethal erythroderma,Neonatal,Autosomal recessive
1955,Spinocerebellar ataxia type 34,"Adolescent, Adult, Neonatal",Autosomal dominant
1926,Diabetic embryopathy,"Antenatal, Neonatal",Not applicable
2209,Maternal phenylketonuria syndrome,"Antenatal, Neonatal",Autosomal recessive
1927,Emery-Nelson syndrome,"Infancy, Neonatal",
1937,Eng-Strom syndrome,Antenatal,Autosomal dominant
1920,Toluene embryopathy,"Antenatal, Neonatal",Not applicable
1919,Phenobarbital embryopathy,"Antenatal, Neonatal",Not applicable
1917,Fetal methylmercury syndrome,"Antenatal, Neonatal",Not applicable
1923,Methimazole embryofetopathy,"Antenatal, Neonatal",Not applicable
1912,Fetal hydantoin syndrome,"Antenatal, Neonatal",Not applicable
1918,Fetal minoxidil syndrome,"Antenatal, Neonatal",Not applicable
1911,Cocaine embryofetopathy,"Antenatal, Neonatal",Not applicable
1910,Fetal iodine syndrome,"Antenatal, Neonatal",Not applicable
1916,Diethylstilbestrol syndrome,All ages,Not applicable
294,Fetal cytomegalovirus syndrome,"Antenatal, Neonatal",Not applicable
1914,Vitamin K antagonist embryofetopathy,"Antenatal, Neonatal",Not applicable
1913,Fetal trimethadione syndrome,"Antenatal, Neonatal",Not applicable
1896,EEC syndrome,"Antenatal, Neonatal",Autosomal dominant
1897,EEM syndrome,Neonatal,Autosomal recessive
1908,Aminopterin/methotrexate embryofetopathy,"Antenatal, Neonatal",Not applicable
1909,Indomethacin embryofetopathy,"Antenatal, Neonatal",Not applicable
1906,Fetal valproate spectrum disorder,"Antenatal, Childhood, Infancy, Neonatal",Not applicable
1895,Edinburgh malformation syndrome,Neonatal,Unknown
1891,Intellectual disability-spasticity-ectrodactyly syndrome,"Infancy, Neonatal",
1892,Ectrodactyly-polydactyly syndrome,Antenatal,
1816,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,Neonatal,Autosomal recessive
1807,Focal facial dermal dysplasia type III,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
1818,"Ectodermal dysplasia, trichoodontoonychial type","Antenatal, Infancy, Neonatal",
1883,Ectodermal dysplasia-sensorineural deafness syndrome,"Childhood, Infancy",Autosomal recessive
1882,Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,Childhood,Autosomal recessive
1875,Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,Neonatal,Autosomal recessive
1873,Jalili syndrome,Childhood,Autosomal recessive
1879,Melorheostosis with osteopoikilosis,All ages,Autosomal dominant
1867,"Hereditary bullous dystrophy, macular type",Neonatal,X-linked recessive
1872,Cone rod dystrophy,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive, X-linked recessive"
1871,Progressive cone dystrophy,Adult,"Autosomal dominant, Autosomal recessive"
1860,Thanatophoric dysplasia type 1,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
1861,Thoracic dysplasia-hydrocephalus syndrome,Antenatal,
1865,"Dyssegmental dysplasia, Silverman-Handmaker type","Antenatal, Neonatal",Autosomal recessive
1858,Skeletal dysplasia-epilepsy-short stature syndrome,Neonatal,
254,Spondylometaphyseal dysplasia,Infancy,"Autosomal dominant, Autosomal recessive, X-linked recessive"
1852,OBSOLETE: X-linked retinal dysplasia,Childhood,
1842,"Bone dysplasia, lethal Holmgren type","Antenatal, Neonatal",Autosomal recessive
1839,Hereditary mucoepithelial dysplasia,Childhood,Autosomal dominant
1837,"Metaphyseal chondrodysplasia, Rosenberg type",Adolescent,
1836,"Mesomelic dysplasia, Kantaputra type",Neonatal,Autosomal dominant
1834,Axial mesodermal dysplasia spectrum,Antenatal,
1830,Schimke immuno-osseous dysplasia,"Antenatal, Infancy, Neonatal",Autosomal recessive
1825,Epiphyseal dysplasia-hearing loss-dysmorphism syndrome,Neonatal,
251,Multiple epiphyseal dysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
1811,Odontomicronychial dysplasia,Childhood,Autosomal recessive
1812,Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,"Antenatal, Neonatal",X-linked recessive
1808,"Hidrotic ectodermal dysplasia, Christianson-Fourie type","Infancy, Neonatal",Autosomal dominant
1809,"Hidrotic ectodermal dysplasia, Halal type","Infancy, Neonatal",Autosomal recessive
1806,Ectodermal dysplasia-blindness syndrome,Neonatal,Autosomal recessive
1802,Ghosal hematodiaphyseal dysplasia,"Infancy, Neonatal",Autosomal recessive
1803,Thoracomelic dysplasia,Infancy,
1801,Kyphomelic dysplasia,"Antenatal, Neonatal",
1798,Craniofacial dysostosis-diaphyseal hyperplasia syndrome,Neonatal,Autosomal dominant
1799,Familial developmental dysphasia,Childhood,Autosomal dominant
1794,Oculomaxillofacial dysostosis,Neonatal,
2128,Isolated hemihyperplasia,"Adolescent, Childhood, Infancy",Autosomal dominant
2130,Non-syndromic hemimelia,Neonatal,Not applicable
2136,Hennekam syndrome,Childhood,Autosomal recessive
2138,"46,XX ovotesticular difference of sex development","Adolescent, Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
2139,Hernández-Aguirre Negrete syndrome,Childhood,Autosomal recessive
2141,Diaphragmatic defect-limb deficiency-skull defect syndrome,Antenatal,Unknown
2143,Donnai-Barrow syndrome,"Antenatal, Neonatal",Autosomal recessive
2145,"Craniosynostosis, Herrmann-Opitz type",Antenatal,
2149,Nodular neuronal heterotopia,All ages,"Autosomal dominant, Autosomal recessive, X-linked dominant"
2148,Lissencephaly type 1 due to doublecortin gene mutation,"Adolescent, Childhood, Infancy, Neonatal",X-linked recessive
158048,Hemophagocytic syndrome associated with an infection,All ages,
158057,Acquired hemophagocytic lymphohistiocytosis associated with malignant disease,All ages,
2108,Hallermann-Streiff syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
158061,Macrophage activation syndrome,"Adolescent, Adult, Childhood",
2107,Hall-Riggs syndrome,Neonatal,Autosomal recessive
2110,Hallux varus-preaxial polysyndactyly syndrome,Neonatal,
2109,Hallermann-Streiff-like syndrome,"Antenatal, Neonatal",
2111,Cystic hamartoma of lung and kidney,Infancy,Unknown
2115,Harrod syndrome,"Infancy, Neonatal",
2114,"Hip dysplasia, Beukes type",Childhood,Autosomal dominant
2994,Short stature-craniofacial anomalies-genital hypoplasia syndrome,"Infancy, Neonatal",
2117,Hartsfield syndrome,Antenatal,"Autosomal dominant, Autosomal recessive"
2119,HEC syndrome,Neonatal,Unknown
2123,Multifocal infantile hemangioma with extracutenous involvement,Neonatal,Not applicable
157997,Benign cephalic histiocytosis,Infancy,Not applicable
2090,GMS syndrome,Neonatal,
2091,Multinodular goiter-cystic kidney-polydactyly syndrome,"Antenatal, Neonatal",Autosomal dominant
157991,Generalized eruptive histiocytosis,"Adolescent, Adult, Childhood, Elderly",Not applicable
158011,Necrobiotic xanthogranuloma,,Not applicable
158008,Papular xanthoma,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
376,Gordon syndrome,"Antenatal, Neonatal",Autosomal dominant
158003,Xanthoma disseminatum,"Adolescent, Adult, Childhood",Not applicable
2092,Focal dermal hypoplasia,"Antenatal, Neonatal",X-linked dominant
158000,Juvenile xanthogranuloma,"Adolescent, Childhood, Infancy, Neonatal",Not applicable
2098,"Acromesomelic dysplasia, Grebe type","Antenatal, Neonatal",Autosomal recessive
158025,Hereditary progressive mucinous histiocytosis,Childhood,Autosomal dominant
158022,Progressive nodular histiocytosis,"Adolescent, Adult, Childhood",Not applicable
380,Greig cephalopolysyndactyly syndrome,Antenatal,Autosomal dominant
2095,Gorlin-Chaudhry-Moss syndrome,Neonatal,Autosomal recessive
158019,Indeterminate cell histiocytosis,,Not applicable
158014,Rosaï-Dorfman disease,"Adolescent, Adult",
2097,Grant syndrome,Neonatal,Unknown
2101,Grubben-de Cock-Borghgraef syndrome,"Antenatal, Neonatal",
2104,Dysmorphism-pectus carinatum-joint laxity syndrome,"Infancy, Neonatal",Unknown
158032,Hemophagocytic syndrome,"Adolescent, Childhood, Infancy",
2069,Gastrocutaneous syndrome,"Adolescent, Adult",
157846,Neuroferritinopathy,Adult,Autosomal dominant
157832,Craniorhiny,Neonatal,
2067,GAPO syndrome,Neonatal,Autosomal recessive
157835,Paroxysmal hemicrania,"Adolescent, Adult, Childhood, Elderly",Not applicable
2065,Galloway-Mowat syndrome,"Childhood, Infancy, Neonatal","Autosomal recessive, X-linked recessive"
2075,Genitopalatocardiac syndrome,"Antenatal, Neonatal",
157941,Huntington disease-like 1,Adult,Autosomal dominant
2074,Gemignani syndrome,Adult,Autosomal recessive
157850,Pantothenate kinase-associated neurodegeneration,All ages,Autosomal recessive
2072,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,Childhood,Autosomal recessive
157954,ANE syndrome,Adult,Autosomal recessive
157962,"Oculoauricular syndrome, Schorderet type","Infancy, Neonatal",Autosomal recessive
157946,Huntington disease-like 3,Childhood,Autosomal recessive
2078,Geroderma osteodysplastica,Neonatal,Autosomal recessive
157949,Combined immunodeficiency with granulomatosis,,Autosomal recessive
2077,German syndrome,Neonatal,Autosomal recessive
157973,Congenital muscular dystrophy due to LMNA mutation,"Infancy, Neonatal",Autosomal dominant
2085,Glaucoma-sleep apnea syndrome,No data available,Unknown
2084,Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome,All ages,Autosomal dominant
157965,SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome,Neonatal,Autosomal recessive
2083,Prominent glabella-microcephaly-hypogenitalism syndrome,"Antenatal, Neonatal",
1791,Frontofacionasal dysplasia,Neonatal,
1826,Frontometaphyseal dysplasia,Neonatal,"Autosomal dominant, X-linked dominant"
2047,Flynn-Aird syndrome,Childhood,Autosomal dominant
2048,Foix-Chavany-Marie syndrome,All ages,Not applicable
2050,Cole-Carpenter syndrome,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable"
2063,Splenogonadal fusion-limb defects-micrognathia syndrome,"Antenatal, Neonatal",
2064,Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,Childhood,Autosomal dominant
250,Frontonasal dysplasia,"Antenatal, Neonatal",Not applicable
2057,Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,Neonatal,Autosomal recessive
2059,Fryns syndrome,"Antenatal, Neonatal",Autosomal recessive
2026,Gingival fibromatosis-hypertrichosis syndrome,"Infancy, Neonatal",Autosomal dominant
2025,Gingival fibromatosis-facial dysmorphism syndrome,Neonatal,Autosomal recessive
2028,Juvenile hyaline fibromatosis,Childhood,Autosomal recessive
2027,Gingival fibromatosis-progressive deafness syndrome,Adult,Autosomal dominant
2021,Fibrochondrogenesis,Neonatal,"Autosomal dominant, Autosomal recessive"
2019,Femur-fibula-ulna complex,"Antenatal, Neonatal",Not applicable
2024,Hereditary gingival fibromatosis,All ages,Autosomal dominant
2022,Endocardial fibroelastosis,Neonatal,Unknown
2824,Paraplegia-intellectual disability-hyperkeratosis syndrome,Infancy,X-linked recessive
2045,FLOTCH syndrome,"Childhood, Infancy",
2044,Floating-Harbor syndrome,"Infancy, Neonatal",Autosomal dominant
2031,Hepatic fibrosis-renal cysts-intellectual disability syndrome,"Infancy, Neonatal",
2036,Scalp-ear-nipple syndrome,Neonatal,Autosomal dominant
158769,Plaque-form urticaria pigmentosa,,"Autosomal dominant, Unknown"
2006,Median cleft lip/mandible,Neonatal,Not applicable
158766,Typical urticaria pigmentosa,,"Autosomal dominant, Unknown"
2007,Alar cartilages hypoplasia-coloboma-telecanthus syndrome,Neonatal,Autosomal recessive
2003,Cleft lip/palate-deafness-sacral lipoma syndrome,"Infancy, Neonatal",Unknown
158687,Lethal acantholytic erosive disorder,"Antenatal, Neonatal",Autosomal recessive
158684,Epidermolysis bullosa simplex with pyloric atresia,Neonatal,Autosomal recessive
2004,Laryngotracheoesophageal cleft,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
2001,Cleft lip/palate-intestinal malrotation-cardiopathy syndrome,Neonatal,Autosomal recessive
158681,Epidermolysis bullosa simplex with circinate migratory erythema,"Infancy, Neonatal",Autosomal dominant
158676,"Localized dystrophic epidermolysis bullosa, nails only","Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
158673,"Localized dystrophic epidermolysis bullosa, acral form","Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
158668,Ectodermal dysplasia-skin fragility syndrome,"Infancy, Neonatal",Autosomal recessive
2016,Cleft palate-lateral synechia syndrome,"Antenatal, Neonatal",Autosomal dominant
2017,Sternal cleft,"Antenatal, Neonatal",Not applicable
2013,Cleft palate-large ears-small head syndrome,"Infancy, Neonatal",
2010,Cleft palate-stapes fixation-oligodontia syndrome,Neonatal,Autosomal recessive
158778,Isolated bone marrow mastocytosis,,"Autosomal dominant, Unknown"
158775,Smoldering systemic mastocytosis,"Adult, Elderly","Autosomal dominant, Unknown"
158772,Nodular urticaria pigmentosa,,"Autosomal dominant, Unknown"
2008,Acrocardiofacial syndrome,"Antenatal, Neonatal",Autosomal recessive
1987,Isolated femoral agenesis/hypoplasia,"Antenatal, Neonatal",
1986,Gollop-Wolfgang complex,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
1980,Bilateral striopallidodentate calcinosis,Adult,"Autosomal dominant, Autosomal recessive, Not applicable"
1997,Blepharo-cheilo-odontic syndrome,Neonatal,Autosomal dominant
1995,OBSOLETE: Cleft lip-retinopathy syndrome,Antenatal,
1993,Pai syndrome,"Antenatal, Neonatal",Unknown
1988,Femoral-facial syndrome,"Antenatal, Neonatal",Not applicable
2348,"Familial partial lipodystrophy, Dunnigan type","Adolescent, Adult, Childhood, Elderly",Autosomal dominant
247775,Mayer-Rokitansky-Küster-Hauser syndrome type 1,"Adolescent, Antenatal","Autosomal dominant, Not applicable"
247768,Müllerian aplasia and hyperandrogenism,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2351,Kousseff syndrome,"Antenatal, Infancy, Neonatal",
2353,Schilbach-Rott syndrome,"Infancy, Neonatal",Autosomal dominant
247790,FTH1-related iron overload,No data available,Autosomal dominant
247798,MUTYH-related polyposis,Adult,"Autosomal dominant, Autosomal recessive"
247794,Juvenile cataract-microcornea-renal glucosuria syndrome,Childhood,Autosomal dominant
247815,Autosomal recessive ataxia due to PEX10 deficiency,"Adolescent, Childhood",Autosomal recessive
2363,Lacrimoauriculodentodigital syndrome,"Antenatal, Neonatal",Autosomal dominant
247691,Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,"Adult, Elderly",Autosomal dominant
2340,Keratosis follicularis spinulosa decalvans,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
247685,Odontohypophosphatasia,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
247709,Multiple endocrine neoplasia type 2B,Childhood,Autosomal dominant
2342,Haim-Munk syndrome,"Childhood, Infancy",Autosomal recessive
247698,Multiple endocrine neoplasia type 2A,Childhood,Autosomal dominant
247724,Idiopathic eosinophilic myositis,,Not applicable
247718,Inflammatory myopathy with abundant macrophages,,Not applicable
247765,X-linked cerebellar ataxia,,"X-linked dominant, X-linked recessive"
485,Kniest dysplasia,"Antenatal, Infancy, Neonatal",Autosomal dominant
247762,Lipoblastoma,Childhood,Not applicable
2347,Lethal Kniest-like dysplasia,Neonatal,Autosomal recessive
247585,Citrullinemia type II,Adult,Autosomal recessive
2333,Kenny-Caffey syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
247598,Neonatal intrahepatic cholestasis due to citrin deficiency,"Infancy, Neonatal",Autosomal recessive
2332,KBG syndrome,"Adolescent, Childhood, Infancy, Neonatal",Autosomal dominant
247604,Juvenile primary lateral sclerosis,Childhood,Autosomal recessive
247623,Perinatal lethal hypophosphatasia,"Antenatal, Neonatal",Autosomal recessive
247638,Prenatal benign hypophosphatasia,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
2338,Isolated punctate palmoplantar keratoderma,,Autosomal dominant
2337,"Diffuse palmoplantar keratoderma, Bothnian type","Childhood, Infancy",Autosomal dominant
247651,Infantile hypophosphatasia,"Infancy, Neonatal",Autosomal recessive
247667,Childhood-onset hypophosphatasia,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
2339,Keratosis follicularis-dwarfism-cerebral atrophy syndrome,"Infancy, Neonatal",X-linked recessive
247676,Adult hypophosphatasia,Adult,"Autosomal dominant, Autosomal recessive"
494,Keratoderma hereditarium mutilans,"Childhood, Infancy",Autosomal dominant
2322,Kabuki syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
247378,Autosomal recessive secondary polycythemia not associated with VHL gene,"Infancy, Neonatal",Autosomal recessive
2321,Jung syndrome,"Infancy, Neonatal",
2324,Osteopenia-intellectual disability-sparse hair syndrome,"Infancy, Neonatal",Autosomal recessive
247511,Autosomal dominant secondary polycythemia,"Infancy, Neonatal",Autosomal dominant
2323,Sanjad-Sakati syndrome,"Infancy, Neonatal",Autosomal recessive
247522,Primary ciliary dyskinesia-retinitis pigmentosa syndrome,Childhood,X-linked recessive
247525,Citrullinemia type I,All ages,Autosomal recessive
247546,Acute neonatal citrullinemia type I,"Infancy, Neonatal",Autosomal recessive
2325,Epidermolysis bullosa simplex with anodontia/hypodontia,"Infancy, Neonatal",
247573,Late-onset citrullinemia type I,Adult,Autosomal recessive
2329,Karsch-Neugebauer syndrome,"Infancy, Neonatal",Autosomal dominant
247582,Citrin deficiency,All ages,Autosomal recessive
2328,Kapur-Toriello syndrome,"Infancy, Neonatal",Autosomal recessive
2408,Lowe-Kohn-Cohen syndrome,"Antenatal, Neonatal",
2409,Lowry-MacLean syndrome,"Infancy, Neonatal",Autosomal dominant
2405,Thickened earlobes-conductive deafness syndrome,All ages,Autosomal dominant
2407,Laryngo-onycho-cutaneous syndrome,"Infancy, Neonatal",Autosomal recessive
2412,Dislocation of the hip-dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
2575,Cystic fibrosis-gastritis-megaloblastic anemia syndrome,Infancy,Autosomal recessive
248408,Familial hypodysfibrinogenemia,,Autosomal dominant
2410,Hypergonadotropic hypogonadism-cataract syndrome,Adolescent,Autosomal recessive
2399,Nasopalpebral lipoma-coloboma syndrome,Neonatal,Autosomal dominant
2400,Peripheral motor neuropathy-dysautonomia syndrome,Childhood,Unknown
2396,Encephalocraniocutaneous lipomatosis,"Antenatal, Neonatal",Not applicable
248340,Isolated delta-storage pool disease,,"Autosomal dominant, Autosomal recessive"
2388,Choreoacanthocytosis,Adult,Autosomal recessive
248111,Juvenile Huntington disease,"Adolescent, Childhood",Autosomal dominant
2387,Leukonychia totalis,Neonatal,"Autosomal dominant, Autosomal recessive"
2386,Leukoencephalopathy-palmoplantar keratoderma syndrome,Childhood,Autosomal recessive
248095,Primary hypertrophic osteoarthropathy,"Infancy, Neonatal",Autosomal recessive
2379,Early-onset parkinsonism-intellectual disability syndrome,Infancy,X-linked recessive
2391,Congenitally short costocoracoid ligament,"Infancy, Neonatal",Autosomal dominant
2390,Lichtenstein syndrome,"Infancy, Neonatal",Autosomal recessive
247834,Occult macular dystrophy,All ages,Autosomal dominant
2371,Lethal Larsen-like syndrome,Neonatal,Autosomal recessive
2369,Limb body wall complex,"Antenatal, Infancy, Neonatal",Not applicable
247820,Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome,"Infancy, Neonatal",Autosomal recessive
247827,Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome,"Infancy, Neonatal",Autosomal recessive
2378,Laurin-Sandrow syndrome,"Antenatal, Neonatal",Autosomal dominant
247868,NLRP12-associated hereditary periodic fever syndrome,"Infancy, Neonatal",Autosomal dominant
2375,Laryngeal abductor paralysis-intellectual disability syndrome,Childhood,X-linked recessive
2456,Familial supernumerary nipples,"Infancy, Neonatal",
2457,Mandibuloacral dysplasia,"Infancy, Neonatal",Autosomal recessive
2451,Mucocutaneous venous malformations,All ages,Autosomal dominant
2439,Patterson-Stevenson-Fontaine syndrome,"Antenatal, Neonatal",Autosomal dominant
244305,Dominant hypophosphatemia with nephrolithiasis or osteoporosis,Adult,Autosomal dominant
244283,Biliary atresia with splenic malformation syndrome,"Infancy, Neonatal",Multigenic/multifactorial
2440,Isolated split hand-split foot malformation,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
244310,RFT1-CDG,"Infancy, Neonatal",Autosomal recessive
244242,HELLP syndrome,Adult,Multigenic/multifactorial
296,Ollier disease,"Adolescent, Adult, Childhood",Not applicable
2437,Czeizel-Losonci syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
244275,De novo thrombotic microangiopathy after kidney transplantation,All ages,
2438,Hand-foot-genital syndrome,"Antenatal, Neonatal",Autosomal dominant
243343,Dimethylglycine dehydrogenase deficiency,Childhood,Autosomal recessive
243367,Acute fatty liver of pregnancy,Adult,Multigenic/multifactorial
2435,Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,"Infancy, Neonatal",Unknown
2429,Macrocephaly-spastic paraplegia-dysmorphism syndrome,Childhood,Autosomal recessive
2432,Macrosomia-microphthalmia-cleft palate syndrome,"Antenatal, Neonatal",
2489,Upper limb defect-eye and ear abnormalities syndrome,"Infancy, Neonatal",
247353,Generalized pustular psoriasis,Adult,"Autosomal recessive, Not applicable"
247262,Hyperphosphatasia-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
2487,Lower limb malformation-hypospadias syndrome,Neonatal,
247257,Inhalational anthrax,All ages,Not applicable
247245,Superficial siderosis,All ages,Not applicable
2485,Melorheostosis,All ages,Not applicable
247239,Non-hereditary degenerative ataxia,Adult,Not applicable
247234,Sporadic adult-onset ataxia of unknown etiology,"Adult, Elderly",Not applicable
2483,Melkersson-Rosenthal syndrome,Childhood,
247203,Collecting duct carcinoma,Adult,Not applicable
2484,Melnick-Needles syndrome,Childhood,X-linked dominant
247198,Progressive cerebello-cerebral atrophy,"Infancy, Neonatal",Autosomal recessive
2481,Neurocutaneous melanocytosis,Childhood,Not applicable
2482,Melhem-Fahl syndrome,Neonatal,
247165,Infantile mercury poisoning,Infancy,Not applicable
2477,Isolated megalencephaly,"Antenatal, Neonatal",Autosomal recessive
2479,Megalocornea-intellectual disability syndrome,"Childhood, Infancy, Neonatal",
2475,White forelock with malformations,"Infancy, Neonatal",
2476,Dysraphism-cleft lip/palate-limb reduction defects syndrome,Antenatal,
2473,McKusick-Kaufman syndrome,"Antenatal, Neonatal",Autosomal recessive
2471,McDonough syndrome,"Infancy, Neonatal",
2470,Matthew-Wood syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
561,Marshall-Smith syndrome,"Infancy, Neonatal",Autosomal dominant
2464,"Marfanoid syndrome, De Silva type","Adult, Childhood",
559,Marinesco-Sjögren syndrome,"Childhood, Infancy",Autosomal recessive
2463,Marfanoid habitus-autosomal recessive intellectual disability syndrome,"Childhood, Infancy",Autosomal recessive
2462,Shprintzen-Goldberg syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Multigenic/multifactorial, Not applicable"
2461,Marden-Walker syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
251630,Anaplastic oligodendroglioma,Adult,Not applicable
2172,Microcephaly-glomerulonephritis-marfanoid habitus syndrome,Neonatal,Autosomal recessive
251636,Ependymoma,All ages,Not applicable
251639,Subependymoma,Adult,
251643,Myxopapillary ependymoma,"Adolescent, All ages, Childhood",Not applicable
2176,Infantile systemic hyalinosis,"Infancy, Neonatal",Autosomal recessive
251646,Anaplastic ependymoma,"Adolescent, Adult, Childhood",Not applicable
2181,Hydrocephaly-tall stature-joint laxity syndrome,Infancy,Autosomal recessive
2180,Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,Neonatal,Unknown
251663,Anaplastic oligoastrocytoma,Adult,Not applicable
2186,Hydrocephalus-blue sclerae-nephropathy syndrome,No data available,Unknown
251671,Angiocentric glioma,All ages,
2189,Hydrolethalus,"Antenatal, Neonatal",Autosomal recessive
251674,Chordoid glioma,Adult,
251679,Astroblastoma,"Adolescent, Adult, Childhood, Infancy",Not applicable
312,Autosomal dominant epidermolytic ichthyosis,Neonatal,Autosomal dominant
2196,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement,Childhood,Autosomal recessive
251576,Gliosarcoma,Adult,Not applicable
2150,Hirschsprung disease-type D brachydactyly syndrome,Neonatal,
251582,Gliomatosis cerebri,Adult,Not applicable
251579,Giant cell glioblastoma,Adult,Not applicable
2152,Mowat-Wilson syndrome,"Antenatal, Neonatal",Autosomal dominant
2153,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,Neonatal,Autosomal recessive
251589,Anaplastic astrocytoma,Adult,Not applicable
251598,Protoplasmic astrocytoma,Childhood,Not applicable
2155,Hirschsprung disease-deafness-polydactyly syndrome,Neonatal,Autosomal recessive
251595,Diffuse astrocytoma,"Adolescent, Adult, Childhood",
2158,Histidinuria-renal tubular defect syndrome,"Childhood, Infancy",
251612,Pilocytic astrocytoma,All ages,Not applicable
2163,Holoprosencephaly-craniosynostosis syndrome,"Antenatal, Neonatal",
251607,Pleomorphic xanthoastrocytoma,All ages,Not applicable
2165,Holoprosencephaly-caudal dysgenesis syndrome,"Antenatal, Neonatal",
251615,Pilomyxoid astrocytoma,All ages,Not applicable
2166,Holoprosencephaly-postaxial polydactyly syndrome,"Antenatal, Neonatal",Autosomal recessive
251627,Oligodendroglioma,All ages,Not applicable
2167,Holzgreve syndrome,"Antenatal, Neonatal",
251623,Pituicytoma,Adult,Not applicable
2169,Methylcobalamin deficiency type cblE,Childhood,Autosomal recessive
251931,Cerebellar liponeurocytoma,Adult,Not applicable
2222,Hypertrichosis lanuginosa congenita,Childhood,Autosomal dominant
2220,Hypertrichosis cubiti,Childhood,Autosomal dominant
1051,Ramos-Arroyo syndrome,"Infancy, Neonatal",Autosomal dominant
251940,Desmoplastic infantile astrocytoma/ganglioglioma,"Infancy, Neonatal",Not applicable
251946,Dysembryoplastic neuroepithelial tumor,All ages,Not applicable
2228,Hypodontia-dysplasia of nails syndrome,Childhood,Autosomal dominant
2224,Hypertryptophanemia,"Childhood, Infancy, Neonatal",Autosomal recessive
251937,Gangliocytoma,"Adolescent, Childhood, Infancy",
2232,Primary hypergonadotropic hypogonadism-partial alopecia syndrome,Neonatal,Autosomal recessive
2230,Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,Childhood,Autosomal dominant
2229,Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,"Infancy, Neonatal",Autosomal recessive
2238,Familial isolated hypoparathyroidism,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
2237,Hypoparathyroidism-sensorineural deafness-renal disease syndrome,All ages,Autosomal dominant
2235,Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,No data available,Unknown
251992,Ganglioneuroma,"Adolescent, Childhood, Infancy",
2234,Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,Neonatal,Unknown
251867,Classic medulloblastoma,Childhood,
2199,Epidermolytic palmoplantar keratoderma,"Infancy, Neonatal",Autosomal dominant
251863,Desmoplastic/nodular medulloblastoma,Adult,Not applicable
2200,Focal palmoplantar and gingival keratoderma,Childhood,
2198,Palmoplantar keratoderma-esophageal carcinoma syndrome,"Adolescent, Adult",Autosomal dominant
251858,Medulloblastoma with extensive nodularity,"Childhood, Infancy",Not applicable
495,Transgrediens et progrediens palmoplantar keratoderma,Childhood,
251855,Anaplastic/large cell medulloblastoma,"Infancy, Neonatal",
2206,Ankylosing vertebral hyperostosis with tylosis,Adult,Autosomal dominant
2201,Palmoplantar keratoderma-spastic paralysis syndrome,All ages,Autosomal dominant
251877,Ganglioneuroblastoma,"Childhood, Infancy",Not applicable
2202,Palmoplantar keratoderma-deafness syndrome,Childhood,"Autosomal dominant, Mitochondrial inheritance"
251870,Central nervous system embryonal tumor,Childhood,Not applicable
251899,Choroid plexus carcinoma,Childhood,Autosomal dominant
2213,Hypertelorism-microtia-facial clefting syndrome,"Antenatal, Neonatal",Autosomal recessive
2211,Hypertelorism-hypospadias-polysyndactyly syndrome,Neonatal,Autosomal recessive
251915,Papillary tumor of the pineal region,All ages,Not applicable
251912,Pineocytoma,"Adult, Elderly",
2218,Cervical hypertrichosis-peripheral neuropathy syndrome,Childhood,Autosomal recessive
251909,Pineoblastoma,"Adolescent, Adult, Childhood, Infancy",Not applicable
2215,Multiple pterygium-malignant hyperthermia syndrome,Neonatal,Autosomal recessive
2216,Maternal hyperthermia-induced birth defects,"Antenatal, Neonatal",
251019,2q32q33 deletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2266,"Hypotrichosis-intellectual disability, Lopes type","Childhood, Infancy",Autosomal recessive
251028,SATB2-associated syndrome due to a chromosomal rearrangement,"Infancy, Neonatal","Not applicable, Unknown"
2269,Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
251038,3q29 microduplication syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
250999,1q41q42 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2261,"Hypospadias-intellectual disability, Goldblatt type syndrome","Infancy, Neonatal",
251004,Paternal uniparental disomy of chromosome 1 syndrome,"Infancy, Neonatal","Not applicable, Unknown"
251009,Maternal uniparental disomy of chromosome 1 syndrome,"Infancy, Neonatal","Not applicable, Unknown"
672,Pallister-Hall syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
251014,2q31.1 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
455,Superficial epidermolytic ichthyosis,"Infancy, Neonatal",Autosomal dominant
251061,7q31 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
251066,8p11.2 deletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2272,Ichthyosis-oral and digital anomalies syndrome,"Infancy, Neonatal",Autosomal recessive
251071,8p23.1 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2274,Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
251076,8p23.1 duplication syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
2273,Ichthyosis follicularis-alopecia-photophobia syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable, X-linked recessive"
251043,Ring chromosome 5 syndrome,"Infancy, Neonatal","Not applicable, Unknown"
165,Neutral lipid storage disease,"Infancy, Neonatal",Autosomal recessive
139,CHILD syndrome,"Antenatal, Infancy, Neonatal",X-linked dominant
251046,6p22 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
457,Harlequin ichthyosis,Neonatal,Autosomal recessive
2271,Congenital ichthyosis-microcephalus-tetraplegia syndrome,"Infancy, Neonatal",Unknown
251056,6q25.2q25.3 microdeletion syndrome,"Infancy, Neonatal",Not applicable
2246,Cerebellar hypoplasia-tapetoretinal degeneration syndrome,Infancy,
250831,Logopenic progressive aphasia,Adult,"Multigenic/multifactorial, Not applicable"
2249,Ulna hypoplasia-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
2239,Familial isolated hypoparathyroidism due to agenesis of parathyroid gland,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
2241,Megacystis-microcolon-intestinal hypoperistalsis syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
250984,Autosomal recessive Stickler syndrome,Childhood,Autosomal recessive
2256,Fibulo-ulnar hypoplasia-renal anomalies syndrome,"Antenatal, Neonatal",
2257,Primary pulmonary hypoplasia,Neonatal,
250977,AICA-ribosiduria,"Antenatal, Infancy, Neonatal",Autosomal recessive
250994,1q21.1 microduplication syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
250989,1q21.1 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2250,Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,"Antenatal, Neonatal","Autosomal dominant, Unknown"
250923,Isolated aniridia,Neonatal,"Autosomal dominant, Not applicable"
2251,Thumb deformity-alopecia-pigmentation anomaly syndrome,"Infancy, Neonatal",
2252,Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,Neonatal,
250972,Polymicrogyria with optic nerve hypoplasia,"Infancy, Neonatal",Autosomal recessive
2255,Pancreatic hypoplasia-diabetes-congenital heart disease syndrome,All ages,Autosomal dominant
250932,Autosomal dominant optic atrophy and peripheral neuropathy,Childhood,Autosomal dominant
251380,Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,All ages,Autosomal recessive
2306,Isotretinoin-like syndrome,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
251383,CK syndrome,"Infancy, Neonatal",X-linked recessive
2305,Isotretinoin syndrome,"Antenatal, Infancy, Neonatal",Not applicable
251370,Sickle cell S-D Punjab disease,All ages,Autosomal recessive
251375,Sickle cell S-E disease,All ages,Autosomal recessive
251359,Sickle cell-beta-thalassemia disease,All ages,Autosomal recessive
251365,Sickle cell S-C disease,All ages,Autosomal recessive
2295,Familial articular hypermobility syndrome,"Adolescent, Childhood, Infancy",Autosomal dominant
2319,Juberg-Hayward syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
251523,Hyperzincemia and hypercalprotectinemia,Childhood,Unknown
2316,Johnson neuroectodermal syndrome,Childhood,Autosomal dominant
2315,Johanson-Blizzard syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
251510,"46,XY partial gonadal dysgenesis","Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked"
251515,Distal arthrogryposis type 10,"Infancy, Neonatal",Autosomal dominant
2310,Absence deformity of leg-cataract syndrome,Antenatal,
2309,Pachyonychia congenita,All ages,"Autosomal dominant, Autosomal recessive"
251393,Localized junctional epidermolysis bullosa,"Infancy, Neonatal",Autosomal recessive
2307,IVIC syndrome,"Antenatal, Neonatal",Autosomal dominant
251295,Pigmented paravenous retinochoroidal atrophy,All ages,"Autosomal dominant, Not applicable"
251290,Parietal foramina with clavicular hypoplasia,"Infancy, Neonatal",Autosomal dominant
2282,Dysmorphism-short stature-deafness-difference of sex development syndrome,"Infancy, Neonatal",Autosomal recessive
251287,Benign concentric annular macular dystrophy,Childhood,Autosomal dominant
251282,Autosomal dominant spastic ataxia type 1,"Adolescent, Adult, Childhood",Autosomal dominant
251279,Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome,Adult,Autosomal recessive
251274,Familial hyperaldosteronism type III,"Adolescent, Childhood, Infancy",Autosomal dominant
2278,Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,Neonatal,
251262,Familial osteochondritis dissecans,Childhood,Autosomal dominant
2291,Congenital velopharyngeal incompetence,Neonatal,Autosomal dominant
251347,Ataxia-telangiectasia-like disorder,"Infancy, Neonatal",Autosomal recessive
251332,Unexplained long-lasting fever/inflammatory syndrome,All ages,
251328,Unclassified vasculitis,,Not applicable
2289,Neuronal intranuclear inclusion disease,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
2290,Microvillus inclusion disease,"Infancy, Neonatal",Autosomal recessive
2287,Fused mandibular incisors,"Adolescent, Adult, Childhood",
2285,Primary basilar invagination,All ages,Autosomal dominant
251307,Idiopathic recurrent pericarditis,All ages,Not applicable
251304,Infantile onset panniculitis with uveitis and systemic granulomatosis,"Infancy, Neonatal",Not applicable
2674,Cyprus facial-neuromusculoskeletal syndrome,"Antenatal, Neonatal",Autosomal dominant
254837,Unspecified mitochondrial disorder,,"Autosomal recessive, X-linked recessive"
2673,Neurofaciodigitorenal syndrome,"Antenatal, Neonatal",
2672,Neuhauser-Eichner-Opitz syndrome,"Childhood, Infancy",Autosomal dominant
254857,Lethal infantile mitochondrial myopathy,"Infancy, Neonatal",Mitochondrial inheritance
2678,Familial isolated café-au-lait macules,Childhood,Autosomal dominant
254864,Mitochondrial myopathy with reversible cytochrome C oxidase deficiency,"Infancy, Neonatal",Mitochondrial inheritance
254851,Mitochondrial DNA-related dystonia,Childhood,Mitochondrial inheritance
254854,Pure mitochondrial myopathy,"Adolescent, Childhood",Mitochondrial inheritance
2668,Nephropathy-deafness-hyperparathyroidism syndrome,Childhood,Autosomal recessive
2663,Nathalie syndrome,Childhood,
2662,Keipert syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
254803,"Mitochondrial DNA depletion syndrome, encephalomyopathic form","Infancy, Neonatal",Autosomal recessive
2671,Neu-Laxova syndrome,Antenatal,Autosomal recessive
1475,Renal coloboma syndrome,Childhood,Autosomal dominant
2670,Pierson syndrome,"Childhood, Neonatal",Autosomal recessive
2669,Nephrosis-deafness-urinary tract-digital malformations syndrome,"Infancy, Neonatal",Unknown
254930,Combined oxidative phosphorylation defect type 7,"Childhood, Infancy",Autosomal recessive
254925,Combined oxidative phosphorylation defect type 4,Neonatal,Autosomal recessive
2697,Arthrogryposis-renal dysfunction-cholestasis syndrome,Neonatal,Autosomal recessive
254920,Combined oxidative phosphorylation defect type 2,Neonatal,Autosomal recessive
2695,Bifid nose,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
254913,Isolated ATP synthase deficiency,Neonatal,Autosomal recessive
255182,Pyruvate dehydrogenase E3-binding protein deficiency,"Infancy, Neonatal",Autosomal recessive
2701,Noonan syndrome-like disorder with loose anagen hair,"Antenatal, Infancy, Neonatal",Autosomal dominant
255138,Pyruvate dehydrogenase E1-beta deficiency,Childhood,Autosomal recessive
255132,Adult-onset autosomal recessive sideroblastic anemia,Adult,Autosomal recessive
2698,Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome,Childhood,Autosomal dominant
2699,Median nodule of the upper lip,"Infancy, Neonatal",Autosomal dominant
254886,Autosomal recessive progressive external ophthalmoplegia,All ages,Autosomal recessive
254881,Spinocerebellar ataxia with epilepsy,"Adolescent, Childhood",Autosomal recessive
254875,"Mitochondrial DNA depletion syndrome, myopathic form","Infancy, Neonatal",Autosomal recessive
254871,"Mitochondrial DNA depletion syndrome, hepatocerebral form","Infancy, Neonatal",Autosomal recessive
254905,Isolated cytochrome C oxidase deficiency,,"Autosomal recessive, Mitochondrial inheritance"
254902,Renal tubulopathy-encephalopathy-liver failure syndrome,"Infancy, Neonatal",Autosomal recessive
2690,Neutropenia-monocytopenia-deafness syndrome,"Infancy, Neonatal",Unknown
254898,Deafness-encephaloneuropathy-obesity-valvulopathy syndrome,"Infancy, Neonatal",Autosomal recessive
254892,Autosomal dominant progressive external ophthalmoplegia,"Adolescent, Adult",Autosomal dominant
2712,Oculofaciocardiodental syndrome,"Infancy, Neonatal",X-linked dominant
2714,Oculo-palato-cerebral syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
2713,Oculoosteocutaneous syndrome,"Infancy, Neonatal",Autosomal recessive
2715,Severe oculo-renal-cerebellar syndrome,Infancy,Autosomal recessive
2718,Oculotrichodysplasia,Childhood,Autosomal recessive
2717,Oculotrichoanal syndrome,"Infancy, Neonatal",Autosomal recessive
2704,Urofacial syndrome,Childhood,Autosomal recessive
2703,Port-wine nevi-mega cisterna magna-hydrocephalus syndrome,Antenatal,
255210,Mitochondrial DNA-associated Leigh syndrome,"Childhood, Infancy",Mitochondrial inheritance
255229,Navajo neurohepatopathy,"Childhood, Infancy",Autosomal recessive
2707,"Oculocerebrofacial syndrome, Kaufman type","Antenatal, Neonatal",Autosomal recessive
255235,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy","Infancy, Neonatal",Autosomal recessive
2710,Oculodentodigital dysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
2709,"Oculodental syndrome, Rutherfurd type","Infancy, Neonatal",Autosomal dominant
2728,"Blepharophimosis-intellectual disability syndrome, Ohdo type","Infancy, Neonatal",Not applicable
2730,Postaxial tetramelic oligodactyly,Neonatal,
2732,Olivopontocerebellar atrophy-deafness syndrome,"Infancy, Neonatal",Autosomal recessive
2733,Omodysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
2719,"Oculocerebral hypopigmentation syndrome, Cross type",Neonatal,
2720,"Oculocerebral hypopigmentation syndrome, Preus type",Neonatal,
2721,Odonto-onycho-dermal dysplasia,Childhood,Autosomal recessive
2722,Odonto-onycho dysplasia-alopecia syndrome,Neonatal,
2723,Odontotrichomelic syndrome,Childhood,Autosomal recessive
2724,Odontomatosis-aortae esophagus stenosis syndrome,No data available,
260305,Autosomal recessive sideroblastic anemia,"Infancy, Neonatal",Autosomal recessive
2755,Orofaciodigital syndrome type 8,"Infancy, Neonatal",X-linked recessive
2754,Orofaciodigital syndrome type 6,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
252164,Benign schwannoma,"Adult, Elderly",Not applicable
2753,Orofaciodigital syndrome type 4,"Antenatal, Infancy, Neonatal",Autosomal recessive
2751,Orofaciodigital syndrome type 2,"Antenatal, Infancy, Neonatal",Autosomal recessive
2750,Orofaciodigital syndrome type 1,"Antenatal, Infancy, Neonatal","Not applicable, X-linked dominant"
252050,Primary melanoma of the central nervous system,Adult,
2743,Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,Neonatal,
252054,Hemangioblastoma,Adult,
2741,Ophthalmomandibulomelic dysplasia,No data available,
661,Congenital central hypoventilation syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2736,Lethal omphalocele-cleft palate syndrome,"Antenatal, Neonatal",Autosomal recessive
254367,Rare lichen planus,All ages,
2776,Autosomal recessive distal osteolysis syndrome,Childhood,Autosomal recessive
2777,Osteomesopyknosis,"Adolescent, Adult, Childhood",Autosomal dominant
254361,Plectin-related limb-girdle muscular dystrophy R17,Childhood,Autosomal recessive
2774,Multicentric carpo-tarsal osteolysis with or without nephropathy,Childhood,Autosomal dominant
254351,Distal 7q11.23 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2769,"Familial osteodysplasia, Anderson type",Neonatal,
254346,19p13.12 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2770,Nasu-Hakola disease,"Adolescent, Adult",Autosomal recessive
254343,Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome,Childhood,Autosomal recessive
2767,Carpotarsal osteochondromatosis,Adult,Autosomal dominant
254334,Autosomal recessive intermediate Charcot-Marie-Tooth disease type B,"Infancy, Neonatal",Autosomal recessive
2768,Blount disease,"Childhood, Infancy",Autosomal recessive
2762,Progressive osseous heteroplasia,"Childhood, Infancy",Autosomal dominant
252212,Malignant triton tumor,All ages,
2763,Osteocraniostenosis,"Antenatal, Neonatal",Autosomal dominant
252206,Melanoma and neural system tumor syndrome,"Adult, Elderly","Autosomal dominant, Unknown"
252202,Constitutional mismatch repair deficiency syndrome,Childhood,Autosomal recessive
2759,Imperforate oropharynx-costovertebral anomalies syndrome,Neonatal,
2760,OSLAM syndrome,Neonatal,Autosomal dominant
252183,Neurofibroma,Adult,
254516,Temple syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
2793,Otoonychoperoneal syndrome,"Antenatal, Neonatal",Autosomal recessive
2792,Otofaciocervical syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
254519,Kagami-Ogata syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
254525,Temple syndrome due to paternal 14q32.2 microdeletion,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2798,Pachygyria-intellectual disability-epilepsy syndrome,Childhood,
2796,Pachydermoperiostosis,Childhood,"Autosomal dominant, Autosomal recessive"
254528,Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion,"Infancy, Neonatal","Autosomal dominant, Not applicable"
254478,Lichen planus pemphigoides,All ages,
2789,Lateral meningocele syndrome,"Infancy, Neonatal",Autosomal dominant
2788,Osteoporosis-pseudoglioma syndrome,Childhood,Autosomal recessive
254492,Frontal fibrosing alopecia,Adult,
2791,Otodental syndrome,Childhood,Autosomal dominant
254504,Inhalational botulism,Adult,
2790,"Endosteal hyperostosis, Worth type",Adolescent,Autosomal dominant
254509,Iatrogenic botulism,All ages,
254411,Annular atrophic lichen planus,Adult,
254424,Annular lichen planus,All ages,
2783,Autosomal dominant osteopetrosis type 1,"Adolescent, Childhood",Autosomal dominant
254449,Atrophic lichen planus,All ages,
2786,Osteoporosis-oculocutaneous hypopigmentation syndrome,"Infancy, Neonatal",Autosomal recessive
254463,Lichen planus pigmentosus,Adult,
2780,Osteopathia striata-cranial sclerosis syndrome,"Antenatal, Infancy, Neonatal",X-linked dominant
2779,Osteopathia striata-pigmentary dermopathy-white forelock syndrome,Neonatal,"Autosomal dominant, X-linked dominant"
254379,Linear lichen planus,All ages,
254395,Actinic lichen planus,All ages,
667,Autosomal recessive malignant osteopetrosis,"Infancy, Neonatal",Autosomal recessive
2815,Spastic paraparesis-deafness syndrome,Childhood,
254788,Mitochondrial DNA-related mitochondrial myopathy,,Mitochondrial inheritance
2818,Spastic paraplegia-glaucoma-intellectual disability syndrome,Adult,Autosomal recessive
2808,Laryngeal abductor paralysis,Neonatal,
2809,Familial recurrent peripheral facial palsy,"Adolescent, Adult, Childhood",
2812,Parana hard skin syndrome,Infancy,
2805,Partial pancreatic agenesis,"Infancy, Neonatal",Autosomal recessive
254698,Epithelioid trophoblastic tumor,Adult,Not applicable
254693,Partial hydatidiform mole,Adult,Not applicable
675,Annular pancreas,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2807,Papilloma of choroid plexus,All ages,Autosomal dominant
678,Papillon-Lefèvre syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
254704,Genetic hyperferritinemia without iron overload,No data available,"Autosomal dominant, Autosomal recessive"
254534,Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2802,X-linked sideroblastic anemia and spinocerebellar ataxia,"Childhood, Infancy",X-linked recessive
254531,Temple syndrome due to paternal 14q32.2 hypomethylation,"Infancy, Neonatal","Autosomal dominant, Not applicable"
254688,Complete hydatidiform mole,Adult,"Autosomal recessive, Not applicable"
2804,W syndrome,"Infancy, Neonatal",X-linked recessive
2491,Müllerian duct anomalies-limb anomalies syndrome,Neonatal,
2492,FATCO syndrome,"Antenatal, Neonatal",
2498,Syndactyly type 8,,"Autosomal dominant, X-linked recessive"
2499,Metachondromatosis,Childhood,Autosomal dominant
2496,Mesomelia-synostoses syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
2497,"Upper limb mesomelic dysplasia, type Fryns",Neonatal,
2502,Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,"Infancy, Neonatal",Autosomal recessive
2500,Acrogeria,"Childhood, Infancy",Unknown
2501,"Metaphyseal chondrodysplasia, Spahr type",Childhood,Autosomal recessive
2504,Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,"Infancy, Neonatal",Autosomal dominant
2505,Multiple benign circumferential skin creases on limbs,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
2511,Microbrachycephaly-ptosis-cleft lip syndrome,"Infancy, Neonatal",Autosomal recessive
2510,Micro syndrome,Childhood,Autosomal recessive
2508,Corpus callosum agenesis-abnormal genitalia syndrome,"Infancy, Neonatal",X-linked recessive
2516,Microcephaly-cardiac defect-lung malsegmentation syndrome,"Infancy, Neonatal",Autosomal recessive
2515,Microcephaly-cardiomyopathy syndrome,"Infancy, Neonatal",Autosomal recessive
2514,Autosomal dominant primary microcephaly,"Antenatal, Infancy, Neonatal",Autosomal dominant
2513,Microcephaly-albinism-digital anomalies syndrome,"Infancy, Neonatal",Unknown
2521,Microcephaly-cleft palate-abnormal retinal pigmentation syndrome,"Infancy, Neonatal",Unknown
2518,Autosomal recessive chorioretinopathy-microcephaly syndrome,Neonatal,Autosomal recessive
2524,Pontocerebellar hypoplasia type 2,"Infancy, Neonatal",Autosomal recessive
2523,Microcephaly-brain defect-spasticity-hypernatremia syndrome,Neonatal,
2522,Microcephaly-cervical spine fusion anomalies syndrome,"Antenatal, Neonatal",Autosomal recessive
2526,Microcephaly-lymphedema-chorioretinopathy syndrome,Neonatal,Autosomal dominant
2528,"Microcephaly-microcornea syndrome, Seemanova type","Infancy, Neonatal",
2533,Microcephaly-deafness-intellectual disability syndrome,"Infancy, Neonatal",
2536,Microcornea-glaucoma-absent frontal sinuses syndrome,"Childhood, Infancy, Neonatal",
261911,Partial deletion of the short arm of chromosome 7 syndrome,Antenatal,
2549,Oculoauriculovertebral spectrum with radial defects,"Antenatal, Neonatal",
2551,Microspherophakia-metaphyseal dysplasia syndrome,"Infancy, Neonatal",Autosomal dominant
2554,Ear-patella-short stature syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
2556,Microphthalmia with linear skin defects syndrome,Neonatal,X-linked dominant
2558,Mikati-Najjar-Sahli syndrome,"Infancy, Neonatal",Autosomal recessive
2557,Mietens syndrome,"Infancy, Neonatal",Autosomal recessive
2561,Pyramidal molars-abnormal upper lip syndrome,Childhood,Autosomal recessive
2560,Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,"Infancy, Neonatal",Not applicable
2564,Tetramelic monodactyly,Antenatal,Autosomal dominant
2563,MOMO syndrome,"Infancy, Neonatal",Autosomal recessive
2565,Mononen-Karnes-Senac syndrome,"Infancy, Neonatal",X-linked dominant
575,Muckle-Wells syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
2572,Spastic ataxia-corneal dystrophy syndrome,Childhood,Autosomal recessive
2573,Moyamoya disease,All ages,"Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive"
2570,Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome,Antenatal,X-linked recessive
2571,X-linked immunoneurologic disorder,"Infancy, Neonatal",X-linked dominant
261183,15q11.2 microdeletion syndrome,"Infancy, Neonatal",Not applicable
2585,Ataxia-pancytopenia syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
261144,FOXG1 syndrome due to 14q12 microdeletion,"Infancy, Neonatal",Not applicable
261120,14q11.2 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2578,Mayer-Rokitansky-Küster-Hauser syndrome type 2,"Adolescent, Antenatal, Neonatal","Autosomal dominant, Not applicable"
2579,Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,Childhood,Autosomal dominant
261112,Monosomy 9p syndrome,"Antenatal, Neonatal",
261102,Distal 7q11.23 microduplication syndrome,"Infancy, Neonatal",
2576,Mulibrey nanism,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
261236,16p13.11 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
2608,N syndrome,"Infancy, Neonatal",X-linked recessive
261243,16p13.11 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
261222,Distal 16p11.2 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
1359,Carney complex,"Infancy, Neonatal",Autosomal dominant
2593,Tubular aggregate myopathy,"Adolescent, Adult, Childhood",Autosomal dominant
261229,14q11.2 microduplication syndrome,"Infancy, Neonatal",
2590,Spinal muscular atrophy-progressive myoclonic epilepsy syndrome,Childhood,Autosomal recessive
261204,16p11.2p12.2 microduplication syndrome,"Antenatal, Infancy, Neonatal",
2589,Myoclonus-cerebellar ataxia-deafness syndrome,Childhood,Autosomal dominant
261211,16p11.2p12.2 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2588,Myhre syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
261190,Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion,"Infancy, Neonatal","Not applicable, Unknown"
261197,Proximal 16p11.2 microdeletion syndrome,Childhood,"Autosomal dominant, Not applicable"
261295,20p12.3 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
261304,Paternal 20q13.2q13.3 microdeletion syndrome,"Antenatal, Neonatal",Not applicable
261279,17q23.1q23.2 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
261290,Trisomy 17p syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2617,"Microcephalic primordial dwarfism, Montreal type","Infancy, Neonatal",
261265,17q12 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
261272,17q12 microduplication syndrome,"Antenatal, Infancy, Neonatal",
2616,3M syndrome,Antenatal,Autosomal recessive
261250,16q24.3 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2613,Nail-patella-like renal disease,"Infancy, Neonatal",Autosomal dominant
261257,Distal 17p13.3 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
261344,Trisomy 1q syndrome,"Antenatal, Neonatal",
261337,Distal 22q11.2 microduplication syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
261476,Xp21 deletion syndrome,"Infancy, Neonatal",
261349,2p15p16.1 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
261318,Trisomy 20p syndrome,"Infancy, Neonatal","Not applicable, Unknown"
261311,20q13.33 microdeletion syndrome,Neonatal,Not applicable
2623,Geleophysic dysplasia,Childhood,"Autosomal dominant, Autosomal recessive"
261330,Distal 22q11.2 microdeletion syndrome,"Antenatal, Neonatal",Autosomal dominant
261323,21q22.11q22.12 microdeletion syndrome,"Infancy, Neonatal",Not applicable
261524,Paternal uniparental disomy of chromosome X syndrome,Neonatal,
2639,Fibular aplasia-complex brachydactyly syndrome,"Antenatal, Neonatal",Autosomal recessive
261519,Maternal uniparental disomy of chromosome X syndrome,Neonatal,
261534,"49,XXXYY syndrome",Neonatal,
261529,Ring chromosome Y syndrome,Neonatal,
2631,Mesomelic dwarfism-cleft palate-camptodactyly syndrome,Neonatal,Autosomal recessive
261494,Kleefstra syndrome,Neonatal,Autosomal dominant
261483,Xq27.3q28 duplication syndrome,"Infancy, Neonatal",X-linked recessive
2632,Langer mesomelic dysplasia,Antenatal,Autosomal recessive
2633,"Mesomelic dysplasia, Nievergelt type","Antenatal, Neonatal",Autosomal dominant
261501,Atypical Norrie disease due to Xp11.3 microdeletion,Neonatal,Not applicable
2634,"Mesomelic dwarfism, Reinhardt-Pfeiffer type","Antenatal, Infancy, Neonatal",Autosomal dominant
2645,Osteoglosphonic dysplasia,Neonatal,Autosomal dominant
261584,5q22 microdeletion syndrome,Adult,Not applicable
261600,Alagille syndrome due to 20p12 microdeletion,,Not applicable
261619,Alagille syndrome due to a JAG1 point mutation,,Autosomal dominant
261537,Mowat-Wilson syndrome due to monosomy 2q22,"Antenatal, Neonatal",
2643,"Microcephalic primordial dwarfism, Toriello type","Antenatal, Neonatal",
261552,Mowat-Wilson syndrome due to a ZEB2 point mutation,"Antenatal, Neonatal",Autosomal dominant
2636,Microcephalic osteodysplastic primordial dwarfism types I and III,"Antenatal, Infancy, Neonatal",Autosomal recessive
2658,Lenz-Majewski hyperostotic dysplasia,"Antenatal, Infancy, Neonatal",Autosomal dominant
261629,Alagille syndrome due to a NOTCH2 point mutation,,Autosomal dominant
261638,Okihiro syndrome due to 20q13 microdeletion,,Not applicable
261647,Okihiro syndrome due to a point mutation,,Autosomal dominant
261652,Kleefstra syndrome due to a point mutation,Neonatal,Autosomal dominant
264200,14q22q23 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
3057,Monoamine oxidase A deficiency,Childhood,X-linked recessive
3055,X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,"Infancy, Neonatal",X-linked recessive
3052,X-linked intellectual disability-seizures-psoriasis syndrome,"Infancy, Neonatal",X-linked recessive
3047,"Blepharophimosis-intellectual disability syndrome, SBBYS type","Antenatal, Infancy, Neonatal",Autosomal dominant
3044,Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,Childhood,Unknown
3042,Intellectual disability-cataracts-calcified pinnae-myopathy syndrome,"Childhood, Infancy",Autosomal dominant
3041,Intellectual disability-balding-patella luxation-acromicria syndrome,"Infancy, Neonatal",X-linked recessive
3038,Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,Childhood,
263665,NK-cell enteropathy,Adult,Not applicable
3035,Growth delay-hydrocephaly-lung hypoplasia syndrome,Antenatal,
263662,Familial multiple meningioma,All ages,Autosomal dominant
3034,Delayed membranous cranial ossification,"Infancy, Neonatal",
263548,Peeling skin syndrome type A,"Infancy, Neonatal",Autosomal recessive
3033,Renal tubular dysgenesis,Antenatal,"Autosomal recessive, Not applicable"
263553,Peeling skin syndrome type B,"Infancy, Neonatal",Autosomal recessive
3032,NPHP3-related Meckel-like syndrome,Childhood,Autosomal recessive
263534,Acral peeling skin syndrome,"Infancy, Neonatal",Autosomal recessive
263543,Generalized peeling skin syndrome,"Infancy, Neonatal",Autosomal recessive
263516,Progressive myoclonic epilepsy type 3,"Childhood, Infancy",Autosomal recessive
263524,Acute necrotizing encephalopathy of childhood,Childhood,Not applicable
263501,COG4-CDG,"Infancy, Neonatal",Autosomal recessive
3026,Radial ray hypoplasia-choanal atresia syndrome,"Infancy, Neonatal",Autosomal dominant
263508,COG1-CDG,"Infancy, Neonatal",Autosomal recessive
263482,"Spondyloepimetaphyseal dysplasia, Maroteaux type","Infancy, Neonatal",Not applicable
3021,RAPADILINO syndrome,"Infancy, Neonatal",Autosomal recessive
263479,Fuchs heterochromic iridocyclitis,Adult,
263494,DPM3-CDG,Childhood,Autosomal recessive
3023,External auditory canal atresia-vertical talus-hypertelorism syndrome,Neonatal,"Autosomal dominant, Not applicable, Unknown"
263487,COG5-CDG,Childhood,Autosomal recessive
263458,Hyperinsulinism due to INSR deficiency,"Adolescent, Adult",Autosomal dominant
263455,Congenital hyperinsulinism due to HNF4A deficiency,"Infancy, Neonatal",Autosomal dominant
1832,Osteosclerotic bone dysplasia,"Antenatal, Neonatal",Autosomal recessive
3018,Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,"Infancy, Neonatal",Unknown
3019,Ramon syndrome,Infancy,Autosomal recessive
263463,CHST3-related skeletal dysplasia,"Antenatal, Neonatal",Autosomal recessive
263432,Nevus of Ito,All ages,Not applicable
263425,Nevus of Ota,All ages,Not applicable
3015,Radio-renal syndrome,Neonatal,
263435,Congenital smooth muscle hamartoma,"Infancy, Neonatal",Not applicable
3016,Absent radius-anogenital anomalies syndrome,"Antenatal, Neonatal",
263410,Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,"Infancy, Neonatal",Autosomal recessive
3010,Qazi-Markouizos syndrome,"Infancy, Neonatal",
3011,Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,Childhood,Autosomal recessive
769,Rabson-Mendenhall syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
263413,Angiosarcoma,Adult,Not applicable
3003,Pyknoachondrogenesis,"Antenatal, Neonatal",Autosomal recessive
263335,Moderately-differentiated thymic neuroendocrine carcinoma,Adult,Not applicable
263339,Poorly differentiated thymic neuroendocrine carcinoma,Adult,Not applicable
3005,Pyle disease,"Infancy, Neonatal",Autosomal recessive
263347,MRCS syndrome,Childhood,Autosomal dominant
263352,Postcardiotomy right ventricular failure,All ages,Not applicable
3004,Mirror polydactyly-vertebral segmentation-limbs defects syndrome,"Antenatal, Infancy, Neonatal",
263310,Thymoma type A,Adult,Not applicable
2997,Ptosis-vocal cord paralysis syndrome,Neonatal,
263317,Thymoma type B,Adult,Not applicable
263324,Thymoma type AB,Adult,Not applicable
2999,Ptosis-strabismus-ectopic pupils syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
263331,Well-differentiated thymic neuroendocrine carcinoma,Adult,Not applicable
2990,Autosomal recessive multiple pterygium syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
263297,Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency,Childhood,Autosomal recessive
2987,Antecubital pterygium syndrome,"Infancy, Neonatal",Autosomal dominant
2985,Pseudoprogeria syndrome,"Infancy, Neonatal",Unknown
2989,Familial pterygium of the conjunctiva,"Adolescent, Adult",Autosomal dominant
2988,Pterygium colli-intellectual disability-digital anomalies syndrome,Neonatal,"Autosomal dominant, X-linked dominant"
3138,Ulnar-mammary syndrome,"Adolescent, Antenatal, Infancy, Neonatal",Autosomal dominant
3145,Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome,Infancy,
3143,Autoimmune polyendocrinopathy type 2,Adult,
3144,Schneckenbecken dysplasia,Antenatal,Autosomal recessive
3132,Say-Barber-Miller syndrome,"Antenatal, Infancy, Neonatal",Unknown
3130,Satoyoshi syndrome,"Adolescent, Adult, Childhood",Not applicable
798,Schinzel-Giedion syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
3134,SCARF syndrome,"Infancy, Neonatal",X-linked recessive
3121,Ruvalcaba syndrome,"Infancy, Neonatal",Unknown
2909,Rothmund-Thomson syndrome,"Infancy, Neonatal",Autosomal recessive
3110,Rombo syndrome,Childhood,Unknown
3115,Roussy-Lévy syndrome,"Childhood, Infancy",Autosomal dominant
3101,Richieri Costa-da Silva syndrome,Childhood,
3102,Richieri Costa-Pereira syndrome,"Infancy, Neonatal",Autosomal recessive
3104,Robin sequence-oligodactyly syndrome,Neonatal,
3107,Autosomal dominant Robinow syndrome,"Infancy, Neonatal",Autosomal dominant
3109,Mayer-Rokitansky-Küster-Hauser syndrome,"Adolescent, Antenatal","Autosomal dominant, Not applicable"
3086,Autosomal dominant vitreoretinochoroidopathy,All ages,Autosomal dominant
3088,Revesz syndrome,"Childhood, Infancy",Autosomal dominant
3097,Meacham syndrome,"Infancy, Neonatal",Autosomal dominant
3098,"Rhizomelic syndrome, Urbach type",Neonatal,
3078,"Severe X-linked intellectual disability, Gustavson type","Infancy, Neonatal",X-linked recessive
3077,X-linked intellectual disability-psychosis-macroorchidism syndrome,Childhood,X-linked dominant
3080,"Intellectual disability, Wolff type",Neonatal,
3079,"Intellectual disability, Buenos-Aires type",Neonatal,
3063,"X-linked intellectual disability, Snyder type","Adolescent, Childhood, Infancy",X-linked recessive
3068,Intellectual disability-myopathy-short stature-endocrine defect syndrome,Neonatal,
2886,TARP syndrome,"Antenatal, Neonatal",X-linked recessive
268861,Primary tethered cord syndrome,"Infancy, Neonatal",
2885,Piebald trait-neurologic defects syndrome,No data available,
2884,Piebaldism,"Infancy, Neonatal",Autosomal dominant
2881,Cutaneous photosensitivity-lethal colitis syndrome,"Infancy, Neonatal",Autosomal recessive
2879,"Phocomelia, Schinzel type","Antenatal, Infancy, Neonatal",Autosomal recessive
268882,Arnold-Chiari malformation type I,"Infancy, Neonatal",Unknown
2892,Pilodental dysplasia-refractive errors syndrome,"Infancy, Neonatal",Autosomal recessive
2891,Pili torti-developmental delay-neurological abnormalities syndrome,Infancy,
2889,Pili torti,"Infancy, Neonatal",Autosomal recessive
2890,Pili torti-onychodysplasia syndrome,"Infancy, Neonatal",Autosomal recessive
268865,Neurenteric cyst,"Infancy, Neonatal",
2888,Pierre Robin syndrome-faciodigital anomaly syndrome,"Infancy, Neonatal",X-linked recessive
268868,Isolated amyelia,"Infancy, Neonatal",
2865,Short stature-webbed neck-heart disease syndrome,"Infancy, Neonatal",Unknown
2866,Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,"Antenatal, Neonatal",
2863,Short stature-wormian bones-dextrocardia syndrome,"Infancy, Neonatal",
268744,Spinal dysraphism with a posterior meningocele,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
2875,Phakomatosis pigmentovascularis,Neonatal,Not applicable
268823,Occipital encephalocele,,Autosomal dominant
2876,PHAVER syndrome,"Infancy, Neonatal",Autosomal recessive
268820,Cranial meningocele,"Infancy, Neonatal",
2874,Phakomatosis pigmentokeratotica,"Infancy, Neonatal",Unknown
268813,Myelocystocele,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
268810,Isolated posterior meningocele,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
2871,Pfeiffer-Palm-Teller syndrome,Neonatal,
2872,"Cardiocranial syndrome, Pfeiffer type","Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
2867,"Short stature, Brussels type","Infancy, Neonatal",Unknown
2868,Short stature-valvular heart disease-characteristic facies syndrome,"Infancy, Neonatal",Autosomal dominant
2846,Congenital pericardium anomaly,All ages,Not applicable
2842,Penoscrotal transposition,"Infancy, Neonatal","Autosomal recessive, Not applicable, X-linked recessive"
2848,Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
2847,Pericardial and diaphragmatic defect,"Infancy, Neonatal","Autosomal recessive, Not applicable"
2838,Renal caliceal diverticuli-deafness syndrome,Neonatal,
268322,Hereditary thrombocytopenia with normal platelets,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
2840,Pelvic dysplasia-arthrogryposis of lower limbs syndrome,"Antenatal, Neonatal",
2839,Pelvis-shoulder dysplasia,"Infancy, Neonatal",Autosomal dominant
268337,Autosomal recessive intermediate Charcot-Marie-Tooth disease,,Autosomal recessive
2855,Perrault syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
2854,Fuhrmann syndrome,"Infancy, Neonatal",Autosomal recessive
708,Peters anomaly,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
268363,Open iniencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
268366,Closed iniencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
2850,Alopecia-intellectual disability syndrome,Neonatal,Autosomal recessive
268369,Open spinal dysraphism,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
268114,RAS-associated autoimmune leukoproliferative disease,"Childhood, Infancy",Unknown
2825,PARC syndrome,"Infancy, Neonatal",Autosomal dominant
2826,Spastic paraplegia-precocious puberty syndrome,Childhood,Autosomal dominant
268139,Intraocular medulloepithelioma,Childhood,Not applicable
268129,Spheroid body myopathy,All ages,Autosomal dominant
2819,Spastic paraplegia-facial-cutaneous lesions syndrome,Infancy,
2820,Spastic paraplegia-nephritis-deafness syndrome,No data available,Autosomal dominant
2821,Spastic paraplegia-neuropathy-poikiloderma syndrome,Childhood,
2822,Autosomal recessive spastic paraplegia type 11,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
2835,Pectus excavatum-macrocephaly-dysplastic nails syndrome,Neonatal,Unknown
268261,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,"Infancy, Neonatal","Not applicable, Unknown"
2836,PEHO syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
268249,Mycophenolate mofetil embryopathy,"Antenatal, Infancy, Neonatal",Not applicable
268316,Complication in hemodialysis,All ages,Not applicable
268162,Intermediate maple syrup urine disease,"Infancy, Neonatal",Autosomal recessive
2832,Short tarsus-absence of lower eyelashes syndrome,"Infancy, Neonatal",Autosomal dominant
268145,Classic maple syrup urine disease,Neonatal,Autosomal recessive
268184,Thiamine-responsive maple syrup urine disease,Infancy,Autosomal recessive
2833,Stiff skin syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
2834,Wrinkly skin syndrome,"Infancy, Neonatal",Autosomal recessive
268173,Intermittent maple syrup urine disease,"Childhood, Infancy, Neonatal",Autosomal recessive
2969,Proteus-like syndrome,"Infancy, Neonatal",Autosomal dominant
2964,Autosomal dominant prognathism,Neonatal,Autosomal dominant
2962,De Barsy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
2973,"46,XX difference of sex development-anorectal anomalies syndrome",Neonatal,
2972,Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,Childhood,No data available
750,Pseudoachondroplasia,"Infancy, Neonatal",Autosomal dominant
2976,"Pseudoleprechaunism syndrome, Patterson type","Antenatal, Neonatal",
2975,"46,XX difference of sex development-skeletal anomalies syndrome",No data available,Unknown
2980,Acrootoocular syndrome,"Infancy, Neonatal",Autosomal recessive
2978,Chronic intestinal pseudoobstruction syndrome,All ages,
2946,Brachydactyly-long thumb syndrome,"Infancy, Neonatal",Autosomal dominant
1848,"Renal agenesis, bilateral","Antenatal, Neonatal",Autosomal recessive
2951,Absent thumb-short stature-immunodeficiency syndrome,"Infancy, Neonatal",Unknown
2947,Triphalangeal thumbs-brachyectrodactyly syndrome,Neonatal,Autosomal dominant
264978,Drug or radiation exposure-related interstitial lung disease,All ages,
2956,Acrodysplasia scoliosis,Neonatal,
2952,"Adducted thumbs-arthrogryposis syndrome, Christian type",Neonatal,Autosomal recessive
740,Hutchinson-Gilford progeria syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
2959,Progeria-short stature-pigmented nevi syndrome,"Infancy, Neonatal",Unknown
2957,Guttmacher syndrome,"Infancy, Neonatal",Autosomal dominant
2958,X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome,Childhood,X-linked recessive
2924,Isolated polycystic liver disease,Adult,"Autosomal dominant, Not applicable"
2926,Digital extensor muscle aplasia-polyneuropathy,Neonatal,
2928,Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,Adult,
2930,Cronkhite-Canada syndrome,"Adult, Elderly",Not applicable
2935,Crossed polysyndactyly,Antenatal,Autosomal dominant
2934,Polysyndactyly-cardiac malformation syndrome,"Infancy, Neonatal",Autosomal recessive
2941,Porencephaly-cerebellar hypoplasia-internal malformations syndrome,"Antenatal, Neonatal",
2940,Porencephaly,"Antenatal, Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
2896,Pitt-Hopkins syndrome,"Infancy, Neonatal",Autosomal dominant
2899,Brachyolmia-amelogenesis imperfecta syndrome,Childhood,Autosomal recessive
2900,Leri pleonosteosis,"Infancy, Neonatal",Autosomal dominant
2905,POEMS syndrome,"Adult, Elderly",Unknown
264450,Trisomy 8p syndrome,"Antenatal, Neonatal",
2907,Hereditary acrokeratotic poikiloderma,"Infancy, Neonatal",
2911,Poland syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable"
264580,Glycogen storage disease due to liver phosphorylase kinase deficiency,Childhood,"Autosomal recessive, X-linked recessive"
2916,Postaxial polydactyly-dental and vertebral anomalies syndrome,Neonatal,
2917,Polydactyly-myopia syndrome,"Infancy, Neonatal",Autosomal dominant
2919,Orofaciodigital syndrome type 5,"Infancy, Neonatal",Autosomal recessive
264675,Hereditary pulmonary alveolar proteinosis,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal recessive
2920,Oliver syndrome,"Infancy, Neonatal",Autosomal recessive
264691,Isolated pulmonary capillaritis,Childhood,Not applicable
2921,Preaxial polydactyly-colobomata-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
264688,Congenital chylothorax,"Infancy, Neonatal","Not applicable, Unknown"
3374,Unilateral ocular duplication,Neonatal,Autosomal dominant
275803,Pulmonary arterial hypertension associated with congenital heart disease,All ages,Not applicable
275808,Pulmonary arterial hypertension associated with HIV infection,Adult,Not applicable
275813,Pulmonary arterial hypertension associated with portal hypertension,Adult,No data available
1717,Distal duplication 19q syndrome,"Infancy, Neonatal",
3377,Trismus-pseudocamptodactyly syndrome,"Infancy, Neonatal",Autosomal dominant
275823,Pulmonary arterial hypertension associated with schistosomiasis,All ages,Not applicable
3368,Trigonocephaly-bifid nose-acral anomalies syndrome,"Infancy, Neonatal",Unknown
275777,Heritable pulmonary arterial hypertension,All ages,"Autosomal dominant, Autosomal recessive"
275786,Drug- or toxin-induced pulmonary arterial hypertension,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
275791,Pulmonary arterial hypertension associated with another disease,All ages,Not applicable
3369,Trigonocephaly-short stature-developmental delay syndrome,No data available,Unknown
275798,Pulmonary arterial hypertension associated with connective tissue disease,All ages,Not applicable
3363,Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,"Infancy, Neonatal",Autosomal recessive
275761,Lysosomal acid lipase deficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
3366,Non-syndromic metopic craniosynostosis,"Infancy, Neonatal","Autosomal dominant, Not applicable"
3365,Trigonocephaly-broad thumbs syndrome,"Infancy, Neonatal",Autosomal dominant
275766,Idiopathic pulmonary arterial hypertension,All ages,Not applicable
3361,Trichodysplasia-xeroderma syndrome,Neonatal,
3408,Upington disease,No data available,Autosomal dominant
276148,Benign epithelial tumor of salivary glands,,Not applicable
3409,Urban-Rogers-Meyer syndrome,Infancy,
276145,Malignant epithelial tumor of salivary glands,Adult,Not applicable
276161,Multiple endocrine neoplasia,All ages,"Autosomal dominant, Not applicable"
3412,VACTERL with hydrocephalus,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
276152,Multiple endocrine neoplasia type 4,Adult,"Autosomal dominant, Not applicable"
3403,Uhl anomaly,"Infancy, Neonatal",Not applicable
3404,Ulbright-Hodes syndrome,Neonatal,Autosomal recessive
276066,Bile acid CoA ligase deficiency and defective amidation,"Infancy, Neonatal",Unknown
275872,Frontotemporal dementia with motor neuron disease,Adult,Autosomal dominant
3383,Humerus trochlea aplasia,Neonatal,
3384,Common arterial trunk,"Infancy, Neonatal",Not applicable
275864,Behavioral variant of frontotemporal dementia,Adult,Autosomal dominant
275944,Hemolytic disease of the newborn with Kell alloimmunization,"Infancy, Neonatal",
3387,Isolated anterior cervical hypertrichosis,Childhood,"Autosomal dominant, Autosomal recessive"
1723,Mosaic trisomy 2 syndrome,"Antenatal, Neonatal",
275828,Pulmonary arterial hypertension associated with chronic hemolytic anemia,All ages,"Multigenic/multifactorial, Not applicable"
1724,Mosaic trisomy 20 syndrome,"Antenatal, Neonatal",
1747,Mosaic trisomy 7 syndrome,"Antenatal, Neonatal",
3329,Tibial aplasia-ectrodactyly syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
3328,Absent tibia-polydactyly-arachnoid cyst syndrome,"Infancy, Neonatal",Unknown
3327,Thyrocerebrorenal syndrome,Childhood,Autosomal recessive
3326,Thymic-renal-anal-lung dysplasia,"Antenatal, Neonatal",Autosomal recessive
3322,Hoyeraal-Hreidarsson syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
3317,Thoracolaryngopelvic dysplasia,"Infancy, Neonatal",Autosomal dominant
3316,Thomas syndrome,"Antenatal, Neonatal",Autosomal recessive
3314,"Thiemann disease, familial form",Adolescent,Not applicable
3355,Trichoodontoonychial dysplasia,"Infancy, Neonatal",Autosomal recessive
275555,Preeclampsia,Adult,Not applicable
275543,L1 syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
3353,Trichodermodysplasia-dental alterations syndrome,Neonatal,
275523,Dianzani autoimmune lymphoproliferative disease,All ages,Unknown
3351,Trichodental syndrome,Childhood,Autosomal dominant
275517,Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency,Childhood,Autosomal recessive
3352,Tricho-dento-osseous syndrome,Childhood,Autosomal dominant
3350,Tremor-nystagmus-duodenal ulcer syndrome,Neonatal,
3344,Weismann-Netter syndrome,Neonatal,
3347,Mounier-Kühn syndrome,All ages,Not applicable
3341,Torticollis-keloids-cryptorchidism-renal dysplasia syndrome,"Infancy, Neonatal",X-linked dominant
3342,Arterial tortuosity syndrome,"Childhood, Infancy",Autosomal recessive
3339,Oculoectodermal syndrome,"Infancy, Neonatal",Not applicable
271861,Hereditary ATTR amyloidosis,,Autosomal dominant
3338,Toriello-Carey syndrome,"Infancy, Neonatal",Autosomal recessive
3469,XK aprosencephaly syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
3472,Yunis-Varon syndrome,"Antenatal, Neonatal",Autosomal recessive
3471,Young syndrome,Adult,Unknown
3319,Congenital amegakaryocytic thrombocytopenia,Neonatal,Autosomal recessive
3473,Zimmermann-Laband syndrome,Neonatal,Autosomal recessive
3459,Wilson-Turner syndrome,Childhood,"X-linked dominant, X-linked recessive"
3464,Woodhouse-Sakati syndrome,"Adolescent, Childhood",Autosomal recessive
3466,WT limb-blood syndrome,Childhood,Autosomal dominant
3465,Worster-Drought syndrome,Childhood,"Autosomal dominant, Not applicable"
2749,Oromandibular-limb hypogenesis syndrome,"Infancy, Neonatal",
2995,Baraitser-Winter cerebrofrontofacial syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
3200,Arthrogryposis-ectodermal dysplasia syndrome,"Infancy, Neonatal",Unknown
1570,Symbrachydactyly of hands and feet,"Antenatal, Neonatal",
3243,Sweet syndrome,Adult,Multigenic/multifactorial
1827,Acromelic frontonasal dysplasia,"Antenatal, Neonatal",Autosomal dominant
2076,X-linked intellectual disability-epilepsy syndrome,Childhood,"X-linked dominant, X-linked recessive"
3424,Velo-facial-skeletal syndrome,Neonatal,
268973,Isolated focal cortical dysplasia type Ia,,Not applicable
269008,Isolated focal cortical dysplasia type IIb,,Not applicable
3433,Microcephaly-brachydactyly-kyphoscoliosis syndrome,"Infancy, Neonatal",Autosomal recessive
3429,Verloove Vanhorick-Brubakk syndrome,Neonatal,
269001,Isolated focal cortical dysplasia type IIa,,Not applicable
2460,Van den Ende-Gupta syndrome,"Infancy, Neonatal",Autosomal recessive
268940,Bilateral polymicrogyria,"Infancy, Neonatal","Autosomal recessive, X-linked dominant"
268943,Unilateral polymicrogyria,"Infancy, Neonatal",
3416,Hyperostosis corticalis generalisata,"Adolescent, Childhood","Autosomal dominant, Autosomal recessive"
268936,Isolated arhinencephaly,"Infancy, Neonatal",
268947,Unilateral focal polymicrogyria,"Antenatal, Infancy, Neonatal",
269229,Pontine tegmental cap dysplasia,"Infancy, Neonatal",Not applicable
3453,Autoimmune polyendocrinopathy type 1,"Adolescent, Childhood",Autosomal recessive
3448,Weaver-Williams syndrome,"Infancy, Neonatal",Autosomal recessive
269221,Isolated bilateral hemispheric cerebellar hypoplasia,"Infancy, Neonatal",
3449,Weill-Marchesani syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
269218,Isolated unilateral hemispheric cerebellar hypoplasia,"Infancy, Neonatal",
3456,Wildervanck syndrome,"Infancy, Neonatal",
269510,Congenital non-communicating hydrocephalus,,Autosomal recessive
3454,Wieacker-Wolff syndrome,Neonatal,"Not applicable, X-linked recessive"
3455,Wiedemann-Rautenstrauch syndrome,"Antenatal, Neonatal",Autosomal recessive
269505,Congenital communicating hydrocephalus,,Autosomal recessive
269203,Isolated cerebellar vermis agenesis,"Infancy, Neonatal",
269197,Glioependymal/ependymal cyst,"Infancy, Neonatal",
3434,MMEP syndrome,"Antenatal, Neonatal",
269215,Isolated Dandy-Walker malformation without hydrocephalus,,Multigenic/multifactorial
1856,Spondyloperipheral dysplasia-short ulna syndrome,"Infancy, Neonatal",Autosomal dominant
280315,Autoimmune pancreatitis type 2,Adult,Not applicable
3181,Sprengel deformity,"Antenatal, Infancy, Neonatal",
280302,Autoimmune pancreatitis type 1,Adult,Not applicable
280333,Alpha-dystroglycan-related limb-girdle muscular dystrophy R16,Childhood,Autosomal recessive
280325,Distal deletion 12p syndrome,"Infancy, Neonatal",
280293,Pelizaeus-Merzbacher-like disease due to AIMP1 mutation,"Infancy, Neonatal",Autosomal recessive
280288,Pelizaeus-Merzbacher-like disease due to HSPD1 mutation,"Infancy, Neonatal",Autosomal recessive
3194,Corneodermatoosseous syndrome,"Infancy, Neonatal",Autosomal dominant
280365,Autosomal semi-dominant severe lipodystrophic laminopathy,Adult,Semi-dominant
280379,Erythropoietic uroporphyria associated with myeloid malignancy,Adult,Autosomal recessive
3197,Hereditary hyperekplexia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
3199,Stimmler syndrome,"Infancy, Neonatal",Autosomal recessive
3184,Steatocystoma multiplex-natal teeth syndrome,"Infancy, Neonatal",Autosomal dominant
3186,Holoprosencephaly-radial heart renal anomalies syndrome,"Antenatal, Neonatal",
3191,Subaortic stenosis-short stature syndrome,Neonatal,
3193,Supravalvular aortic stenosis,All ages,Autosomal dominant
280356,PLIN1-related familial partial lipodystrophy,Childhood,Autosomal dominant
3214,"Deaf blind hypopigmentation syndrome, Yemenite type","Infancy, Neonatal",Autosomal recessive
280403,Familial omphalocele syndrome with facial dysmorphism,"Infancy, Neonatal",Autosomal dominant
280406,Familial steroid-resistant nephrotic syndrome with sensorineural deafness,"Infancy, Neonatal",Autosomal recessive
3201,Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome,"Infancy, Neonatal",Unknown
280384,Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,"Infancy, Neonatal",Autosomal recessive
280397,Familial Alzheimer-like prion disease,Adult,Autosomal dominant
280576,Nestor-Guillermo progeria syndrome,Childhood,Autosomal recessive
3220,Deafness-enamel hypoplasia-nail defects syndrome,Childhood,Autosomal recessive
3219,Fountain syndrome,"Infancy, Neonatal",Autosomal recessive
3222,Phosphoribosylpyrophosphate synthetase superactivity,"Adolescent, Adult, Childhood, Infancy, Neonatal",X-linked recessive
280586,"Chondrodysplasia with joint dislocations, gPAPP type","Infancy, Neonatal",Autosomal recessive
3217,Deafness-small bowel diverticulosis-neuropathy syndrome,Childhood,
280553,Fatal infantile hypertonic myofibrillar myopathy,"Infancy, Neonatal",Autosomal recessive
280558,Warsaw breakage syndrome,"Infancy, Neonatal",Autosomal recessive
3216,Conductive deafness-malformed external ear syndrome,Neonatal,Unknown
3218,Deafness-epiphyseal dysplasia-short stature syndrome,Neonatal,
647,Nijmegen breakage syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
280062,Calciphylaxis,Adult,Not applicable
279947,Postorgasmic illness syndrome,"Adolescent, Adult",Not applicable
279943,Hereditary neutrophilia,All ages,Autosomal dominant
279934,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency","Childhood, Infancy, Neonatal",Autosomal recessive
3152,Sclerosteosis,"Childhood, Neonatal",Autosomal recessive
279928,Paraneoplastic uveitis,Adult,
279925,Infectious panuveitis,All ages,
279922,Infectious anterior uveitis,All ages,
280142,Combined immunodeficiency due to LCK deficiency,"Infancy, Neonatal",Autosomal recessive
3164,"Omphalocele syndrome, Shprintzen-Goldberg type",Neonatal,
3168,Sillence syndrome,"Infancy, Neonatal",Autosomal dominant
280133,Complement component 3 deficiency,Childhood,Autosomal recessive
3163,SHORT syndrome,Neonatal,Autosomal dominant
1479,Atrial septal defect-atrioventricular conduction defects syndrome,No data available,Autosomal dominant
3156,Senior-Loken syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
280071,ALG11-CDG,"Infancy, Neonatal",Autosomal recessive
3157,Septo-optic dysplasia spectrum,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable"
3180,Spondylocamptodactyly syndrome,Neonatal,
280210,"Pelizaeus-Merzbacher disease, connatal form","Infancy, Neonatal",X-linked recessive
280219,"Pelizaeus-Merzbacher disease, classic form","Infancy, Neonatal",X-linked recessive
280200,Microform holoprosencephaly,"Childhood, Infancy, Neonatal",Multigenic/multifactorial
3177,Spinocerebellar degeneration-corneal dystrophy syndrome,"Childhood, Infancy",Autosomal recessive
3175,X-linked spasticity-intellectual disability-epilepsy syndrome,"Infancy, Neonatal",X-linked recessive
280195,Septopreoptic holoprosencephaly,"Infancy, Neonatal",Multigenic/multifactorial
3172,Eyebrow duplication-syndactyly syndrome,"Infancy, Neonatal",Autosomal recessive
280183,Methylmalonic aciduria due to transcobalamin receptor defect,"Infancy, Neonatal",Autosomal recessive
280282,Pelizaeus-Merzbacher-like disease due to GJC2 mutation,"Infancy, Neonatal",Autosomal recessive
280270,Pelizaeus-Merzbacher-like disease,"Infancy, Neonatal",Autosomal recessive
280234,Null syndrome,Childhood,X-linked recessive
1855,Spondyloenchondrodysplasia,Childhood,Autosomal recessive
280224,"Pelizaeus-Merzbacher disease, transitional form","Infancy, Neonatal",X-linked recessive
1797,Autosomal dominant spondylocostal dysostosis,No data available,Autosomal dominant
280229,Pelizaeus-Merzbacher disease in female carriers,Adult,X-linked recessive
276580,Autosomal dominant hyperinsulinism due to Kir6.2 deficiency,"Infancy, Neonatal",Autosomal dominant
3258,Cenani-Lenz syndrome,"Infancy, Neonatal",Autosomal recessive
276575,Autosomal dominant hyperinsulinism due to SUR1 deficiency,"Infancy, Neonatal",Autosomal dominant
276598,Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency,"Infancy, Neonatal",Autosomal recessive
3262,Dobrow syndrome,"Antenatal, Infancy, Neonatal",
276608,Non-insulinoma pancreatogenous hypoglycemia syndrome,Adult,"Autosomal dominant, Not applicable"
3265,Isolated humero-radial synostosis,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
276603,Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,"Infancy, Neonatal",Autosomal recessive
3266,Isolated humero-radio-ulnar synostosis,"Antenatal, Neonatal",Unknown
276621,Sporadic pheochromocytoma/secreting paraganglioma,"Adolescent, Adult, Childhood",Not applicable
3268,Radioulnar synostosis-microcephaly-scoliosis syndrome,"Antenatal, Neonatal",Unknown
276630,Symptomatic form of Coffin-Lowry syndrome in female carriers,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
3270,Radioulnar synostosis-developmental delay-hypotonia syndrome,Neonatal,Unknown
3275,Spondylocarpotarsal synostosis,"Childhood, Infancy",Autosomal recessive
425,Apolipoprotein A-I deficiency,All ages,Autosomal dominant
3291,Teebi-Shaltout syndrome,"Infancy, Neonatal",Autosomal recessive
3293,Telecanthus-hypertelorism-strabismus-pes cavus syndrome,Neonatal,Unknown
3292,Tel Hashomer camptodactyly syndrome,"Infancy, Neonatal",Unknown
279882,Spasmus nutans,Infancy,Unknown
3294,Extensor tendons of finger anomalies,Neonatal,
279888,Acute endophthalmitis,All ages,Not applicable
279891,Chronic endophthalmitis,All ages,Not applicable
279894,Toxic maculopathy due to antimalarial drugs,All ages,Not applicable
3301,Tetraamelia-multiple malformations syndrome,"Antenatal, Infancy, Neonatal","Autosomal recessive, X-linked recessive"
279897,Primary oculocerebral lymphoma,Adult,Not applicable
279904,OBSOLETE: Primary intraocular lymphoma,Adult,Not applicable
3304,Fallot complex-intellectual disability-growth delay syndrome,"Infancy, Neonatal",Autosomal recessive
3312,Thalidomide embryopathy,"Antenatal, Neonatal",Not applicable
279914,Intermediate uveitis,Childhood,Not applicable
279919,Infectious posterior uveitis,All ages,
276198,Spinocerebellar ataxia type 36,Adult,Autosomal dominant
3225,Hearing loss-familial salivary gland insensitivity to aldosterone syndrome,"Infancy, Neonatal",
276193,Spinocerebellar ataxia type 35,"Adolescent, Adult",Autosomal dominant
276183,Spinocerebellar ataxia type 32,Adult,Autosomal dominant
3224,Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,"Infancy, Neonatal",
276174,Idiopathic recurrent stupor,Adult,Not applicable
276238,Machado-Joseph disease type 1,"Adult, Childhood",Autosomal dominant
276234,Non-syndromic male infertility due to sperm motility disorder,Adult,Autosomal recessive
276223,"Mucopolysaccharidosis type 6, slowly progressing",,Autosomal recessive
276212,"Mucopolysaccharidosis type 6, rapidly progressing",,Autosomal recessive
3230,Deafness-oligodontia syndrome,"Infancy, Neonatal",
3231,Deafness-onychodystrophy syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
276244,Machado-Joseph disease type 3,Adult,Autosomal dominant
276241,Machado-Joseph disease type 2,Adult,Autosomal dominant
3235,Progressive deafness with stapes fixation,Childhood,Autosomal recessive
3236,Conductive deafness-ptosis-skeletal anomalies syndrome,No data available,
3232,Deafness-ear malformation-facial palsy syndrome,Neonatal,
3233,Cochleosaccular degeneration-cataract syndrome,Adult,
3241,Deafness-craniofacial syndrome,Neonatal,
276280,Hemihyperplasia-multiple lipomatosis syndrome,Childhood,Not applicable
276399,Familial multinodular goiter,Adolescent,Autosomal dominant
3239,Deafness-vitiligo-achalasia syndrome,"Infancy, Neonatal",Autosomal recessive
3238,Cardiospondylocarpofacial syndrome,All ages,Autosomal dominant
3237,Multiple synostoses syndrome,Childhood,Autosomal dominant
3246,Symphalangism with multiple anomalies of hands and feet,"Infancy, Neonatal",
276413,10q22.3q23.3 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
3242,Renpenning syndrome,"Infancy, Neonatal",X-linked recessive
276405,Hyperbiliverdinemia,Adult,"Autosomal dominant, Autosomal recessive"
3250,Proximal symphalangism,"Infancy, Neonatal",Autosomal dominant
3248,Isolated distal symphalangism,"Infancy, Neonatal",Autosomal dominant
276422,10q22.3q23.3 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
276429,Hypnic headache,"Adult, Childhood, Elderly",Not applicable
3255,Filippi syndrome,"Infancy, Neonatal",Autosomal recessive
276556,Hyperinsulinism due to UCP2 deficiency,"Infancy, Neonatal",Autosomal dominant
276432,Ogden syndrome,"Infancy, Neonatal","X-linked dominant, X-linked recessive"
3253,Cleft lip/palate-ectodermal dysplasia syndrome,"Infancy, Neonatal",Autosomal recessive
276435,Lower motor neuron syndrome with late-adult onset,Adult,Autosomal dominant
911,Combined immunodeficiency due to ZAP70 deficiency,Childhood,Autosomal recessive
3325,Classic heparin-induced thrombocytopenia,All ages,Not applicable
746,Mitochondrial trifunctional protein deficiency,"Infancy, Neonatal",Autosomal recessive
943,Malonic aciduria,Childhood,Autosomal recessive
621,Autosomal recessive methemoglobinemia,"Infancy, Neonatal",Autosomal recessive
2089,Glycogen storage disease due to hepatic glycogen synthase deficiency,Childhood,Autosomal recessive
412,Dysbetalipoproteinemia,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Multigenic/multifactorial"
743,Severe hereditary thrombophilia due to congenital protein S deficiency,"Infancy, Neonatal",Autosomal recessive
424,Familial hyperthyroidism due to mutations in TSH receptor,All ages,Autosomal dominant
325,Congenital factor II deficiency,All ages,Autosomal recessive
343,Hyperimmunoglobulinemia D with periodic fever,Infancy,Autosomal recessive
572,Immunodeficiency by defective expression of MHC class II,"Infancy, Neonatal",Autosomal recessive
1930,Herpes simplex virus encephalitis,All ages,"Multigenic/multifactorial, Not applicable"
158,Systemic primary carnitine deficiency,"Infancy, Neonatal",Autosomal recessive
2056,Essential fructosuria,All ages,Autosomal recessive
206436,Infantile Krabbe disease,Infancy,Autosomal recessive
820,Sneddon syndrome,Adult,"Autosomal dominant, Not applicable"
206428,Hypoxanthine-guanine phosphoribosyltransferase deficiency,All ages,X-linked recessive
1945,Self-limited epilepsy with centrotemporal spikes,Childhood,Autosomal dominant
832,Succinyl-CoA:3-oxoacid CoA transferase deficiency,"Infancy, Neonatal",Autosomal recessive
6,3-methylcrotonyl-CoA carboxylase deficiency,All ages,Autosomal recessive
20,3-hydroxy-3-methylglutaric aciduria,All ages,Autosomal recessive
714,Hemolytic anemia due to diphosphoglycerate mutase deficiency,Infancy,Autosomal recessive
712,Hemolytic anemia due to glucophosphate isomerase deficiency,"Infancy, Neonatal",Autosomal recessive
2831,"Rhizomelic dysplasia, Patterson-Lowry type","Childhood, Infancy",
1129,Arachnodactyly-abnormal ossification-intellectual disability syndrome,"Infancy, Neonatal",Unknown
206546,Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,Adult,X-linked recessive
1383,Cataract-deafness-hypogonadism syndrome,"Infancy, Neonatal",Autosomal recessive
206538,Malignant non-dysgerminomatous germ cell tumor of ovary,Adolescent,Unknown
206554,Fukutin-related limb-girdle muscular dystrophy R13,Infancy,Autosomal recessive
1524,Craniomicromelic syndrome,"Infancy, Neonatal",
206549,Anoctamin-5-related limb-girdle muscular dystrophy R12,"Adolescent, Adult, Childhood",Autosomal recessive
1123,Caudal appendage-deafness syndrome,Neonatal,
206564,POMGNT1-related limb-girdle muscular dystrophy R15,"Adolescent, Childhood",Autosomal recessive
206559,POMT2-related limb-girdle muscular dystrophy R14,Infancy,Autosomal recessive
206572,Overlap myositis,Adult,Not applicable
3263,Syngnathia-cleft palate syndrome,"Antenatal, Neonatal",
206569,Immune-mediated necrotizing myopathy,"Adolescent, Adult, Childhood, Elderly",Not applicable
206580,Autosomal recessive lower motor neuron disease with childhood onset,Childhood,Autosomal recessive
206575,Rippling muscle disease with myasthenia gravis,,Not applicable
206443,Late-infantile/juvenile Krabbe disease,"Adolescent, Childhood, Infancy",Autosomal recessive
3439,Von Voss-Cherstvoy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
206448,Adult Krabbe disease,Adult,Autosomal recessive
206470,Cystadenoma of childhood,Childhood,
1217,Spinal atrophy-ophthalmoplegia-pyramidal syndrome,Neonatal,
2680,Hypomyelination neuropathy-arthrogryposis syndrome,Antenatal,Autosomal recessive
206484,Gonadoblastoma,Adolescent,
1681,Diprosopus,Antenatal,No data available
1655,Müllerian derivatives-lymphangiectasia-polydactyly syndrome,"Antenatal, Neonatal",Unknown
633,Laron syndrome,"Infancy, Neonatal",Autosomal recessive
478,Kallmann syndrome,"Adolescent, Childhood","Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive"
822,Hereditary spherocytosis,All ages,"Autosomal dominant, Autosomal recessive"
910,Xeroderma pigmentosum,All ages,Autosomal recessive
229,Familial aortic dissection,All ages,
777,X-linked non-syndromic intellectual disability,"Childhood, Infancy",X-linked recessive
766,Hemolytic anemia due to red cell pyruvate kinase deficiency,"Infancy, Neonatal",Autosomal recessive
28,Vitamin B12-responsive methylmalonic acidemia,Childhood,Autosomal recessive
206594,Subacute inflammatory demyelinating polyneuropathy,All ages,
206599,Isolated asymptomatic elevation of creatine phosphokinase,All ages,Autosomal dominant
3206,Stüve-Wiedemann syndrome,"Antenatal, Neonatal",Autosomal recessive
206583,Adult polyglucosan body disease,Adult,Autosomal recessive
65,Leber congenital amaurosis,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
321,Multiple osteochondromas,Childhood,Autosomal dominant
206653,Autosomal recessive distal myopathy,,Autosomal recessive
144,Lynch syndrome,Adult,Autosomal dominant
206650,Autosomal dominant distal myopathy,,Autosomal dominant
110,Bardet-Biedl syndrome,"Antenatal, Childhood, Infancy, Neonatal","Autosomal recessive, Oligogenic"
3095,Atypical Rett syndrome,Neonatal,"Autosomal dominant, X-linked dominant"
2326,Kallmann syndrome-heart disease syndrome,"Infancy, Neonatal",Autosomal recessive
1130,Arachnodactyly-intellectual disability-dysmorphism syndrome,"Infancy, Neonatal",Unknown
3207,White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,Neonatal,
2058,Fryns-Smeets-Thiry syndrome,Childhood,
2538,Microgastria-limb reduction defect syndrome,"Infancy, Neonatal",Not applicable
1192,Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,Childhood,Autosomal recessive
2062,Progressive non-infectious anterior vertebral fusion,Childhood,Not applicable
2015,Cleft palate-short stature-vertebral anomalies syndrome,"Infancy, Neonatal",Autosomal dominant
2427,Macrocephaly-short stature-paraplegia syndrome,Adult,Unknown
2898,X-linked intellectual disability-plagiocephaly syndrome,"Infancy, Neonatal",X-linked recessive
206997,Parasitic myositis,All ages,
206994,Bacterial myositis,All ages,
2349,Muscular pseudohypertrophy-hypothyroidism syndrome,Childhood,
207000,Fungal myositis,All ages,
1423,Lethal recessive chondrodysplasia,"Infancy, Neonatal",Autosomal recessive
2183,Hydrocephalus-obesity-hypogonadism syndrome,"Infancy, Neonatal",X-linked recessive
206991,Viral myositis,All ages,
1114,Aplasia cutis congenita,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
209004,Polyneuropathy associated with IgM monoclonal gammopathy,"Adult, Elderly",Not applicable
1101,Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,"Infancy, Neonatal",Autosomal recessive
2184,Hydrocephaly-low insertion umbilicus syndrome,Neonatal,
208650,NLRP3-associated autoinflammatory disease,"Adolescent, Childhood, Infancy, Neonatal","Autosomal dominant, Not applicable"
1779,Dysmorphism-cleft palate-loose skin syndrome,"Antenatal, Neonatal",
1272,Aymé-Gripp syndrome,"Infancy, Neonatal",Autosomal recessive
208513,Spinocerebellar ataxia type 29,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
1485,"Arthrogryposis-hyperkeratosis syndrome, lethal form",Neonatal,Unknown
208508,Autosomal dominant cerebellar ataxia type II,,Autosomal dominant
208447,Bilateral generalized polymicrogyria,"Antenatal, Infancy, Neonatal",Autosomal dominant
3051,Nicolaides-Baraitser syndrome,"Infancy, Neonatal",Autosomal dominant
208444,Bilateral frontal polymicrogyria,"Antenatal, Infancy, Neonatal",
208441,Bilateral parasagittal parieto-occipital polymicrogyria,"Antenatal, Infancy, Neonatal",Autosomal recessive
1134,Isolated arrhinia,"Antenatal, Neonatal",Not applicable
1768,Familial caudal dysgenesis,"Infancy, Neonatal",Autosomal dominant
2204,"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type",Antenatal,
2963,"Progeroid syndrome, Petty type",Neonatal,Autosomal dominant
2619,"Brachydactylous dwarfism, Mseleni type",Childhood,Unknown
1541,"Craniosynostosis, Boston type","Infancy, Neonatal",Autosomal dominant
1415,Hardikar syndrome,Neonatal,X-linked dominant
2151,Hirschsprung disease-ganglioneuroblastoma syndrome,Neonatal,
209335,Autosomal dominant adult-onset proximal spinal muscular atrophy,"Adult, Elderly",Autosomal dominant
209341,DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
3167,Siegler-Brewer-Carey syndrome,"Infancy, Neonatal",Autosomal recessive
1277,Brachydactyly-mesomelia-intellectual disability-heart defects syndrome,Neonatal,
2547,Microphthalmia-microtia-fetal akinesia syndrome,"Antenatal, Neonatal",
1778,Facial dysmorphism-shawl scrotum-joint laxity syndrome,Neonatal,
3074,Intellectual disability-short stature-hypertelorism syndrome,Childhood,
1759,Thoraco-abdominal enteric duplication,Infancy,
210110,Intermediate osteopetrosis,Childhood,Autosomal recessive
3405,Umbilical cord ulceration-intestinal atresia syndrome,Antenatal,Unknown
210115,Sterile multifocal osteomyelitis with periostitis and pustulosis,"Infancy, Neonatal",Autosomal recessive
1884,Ectopia lentis-chorioretinal dystrophy-myopia syndrome,"Infancy, Neonatal",Autosomal recessive
209981,IRIDA syndrome,"Infancy, Neonatal",Autosomal recessive
1459,Celiac disease-epilepsy-cerebral calcification syndrome,Childhood,Not applicable
210133,Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,"Infancy, Neonatal",Autosomal dominant
210136,Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,Adult,Unknown
2582,Myalgia-eosinophilia syndrome associated with tryptophan,All ages,Not applicable
210122,Congenital alveolar capillary dysplasia,"Infancy, Neonatal",Autosomal dominant
210128,Urocanic aciduria,"Infancy, Neonatal",Autosomal recessive
2254,Pontocerebellar hypoplasia type 1,Neonatal,Autosomal recessive
209959,Phacoanaphylactic uveitis,Adult,Not applicable
209964,Solitary rectal ulcer syndrome,Adult,Not applicable
209951,Autosomal spastic paraplegia type 18,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
209956,Idiopathic uveal effusion syndrome,Adult,Unknown
209973,Benign nocturnal alternating hemiplegia of childhood,"Childhood, Infancy",Unknown
209967,Episodic ataxia type 6,Childhood,Autosomal dominant
209970,Episodic ataxia type 7,Childhood,Autosomal dominant
2795,Fowler urethral sphincter dysfunction syndrome,"Adolescent, Adult, Childhood",Unknown
209908,Isolated childhood apraxia of speech,Childhood,Autosomal dominant
209905,Brain-lung-thyroid syndrome,"Infancy, Neonatal",Autosomal dominant
209902,Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,Adult,Semi-dominant
2666,Adult familial nephronophthisis-spastic quadriparesia syndrome,Adult,Unknown
209943,IRVAN syndrome,"Adolescent, Adult, Childhood",Not applicable
209932,Cone dystrophy with supernormal rod response,"Adolescent, Adult, Childhood",Autosomal recessive
209919,Idiopathic copper-associated cirrhosis,Childhood,Unknown
209916,Extraskeletal myxoid chondrosarcoma,Adult,Not applicable
2519,Microcephaly-seizures-intellectual disability-heart disease syndrome,"Infancy, Neonatal",Unknown
209370,MECP2-related severe neonatal encephalopathy,"Infancy, Neonatal",X-linked recessive
209867,Autosomal dominant rhegmatogenous retinal detachment,Adult,Autosomal dominant
210571,Dystonia 16,"Childhood, Infancy",Autosomal recessive
3286,Catecholaminergic polymorphic ventricular tachycardia,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive"
210272,Mal de débarquement,All ages,Not applicable
210548,Macrocephaly-intellectual disability-autism syndrome,"Infancy, Neonatal",Autosomal dominant
210159,Adult hepatocellular carcinoma,"Adult, Elderly",Not applicable
3283,His bundle tachycardia,"Infancy, Neonatal",Unknown
210163,"Congenital lethal myopathy, Compton-North type","Antenatal, Neonatal",Autosomal recessive
3240,Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome,No data available,Autosomal recessive
210141,Inherited congenital spastic tetraplegia,"Infancy, Neonatal","Autosomal recessive, Unknown"
210144,"Lethal polymalformative syndrome, Boissel type","Infancy, Neonatal",Autosomal recessive
1546,Cryptococcosis,All ages,Not applicable
67,Amoebiasis due to Entamoeba histolytica,All ages,Not applicable
210584,Spindle cell hemangioma,"Adolescent, Adult, Childhood, Elderly",Not applicable
2023,Undifferentiated pleomorphic sarcoma,"Adolescent, Adult, Childhood, Elderly",Not applicable
416,Primary hyperoxaluria,All ages,Autosomal recessive
599,Distal myopathy,All ages,"Autosomal dominant, Autosomal recessive"
3392,Tularemia,All ages,Not applicable
1063,Tufted angioma,All ages,"Multigenic/multifactorial, Not applicable"
2737,Onchocerciasis,All ages,Not applicable
211067,Episodic ataxia type 5,All ages,Autosomal dominant
3343,Toxocariasis,Childhood,Not applicable
2034,Filariasis,All ages,Not applicable
2583,Mycetoma,All ages,Not applicable
211037,Autosomal dominant proximal spinal muscular atrophy,,Autosomal dominant
1685,Distomatosis,All ages,Not applicable
211017,Spinocerebellar ataxia type 30,"Adult, Elderly",Autosomal dominant
1902,Ehrlichiosis,All ages,
656,Hereditary steroid-resistant nephrotic syndrome,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
655,Nephronophthisis,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
2415,Isolated rare lymphatic malformation,"Infancy, Neonatal",Not applicable
2122,Kaposiform hemangioendothelioma,All ages,Not applicable
2591,Infantile myofibromatosis,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
35,Propionic acidemia,"Infancy, Neonatal",Autosomal recessive
407,Glycine encephalopathy,"Infancy, Neonatal",Autosomal recessive
2968,Leukocyte adhesion deficiency,"Childhood, Infancy",Autosomal recessive
663,Mitochondrial DNA-related progressive external ophthalmoplegia,"Adolescent, Adult","Mitochondrial inheritance, Not applicable"
137,Congenital disorder of glycosylation,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
220,Denys-Drash syndrome,"Adolescent, Childhood, Infancy, Neonatal",Autosomal dominant
5,Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
85,Congenital dyserythropoietic anemia,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
25,Glutaryl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
177,Rhizomelic chondrodysplasia punctata,"Antenatal, Neonatal",Autosomal recessive
1246,Brachydactyly-nystagmus-cerebellar ataxia syndrome,Infancy,Unknown
618,Familial melanoma,Adult,"Autosomal dominant, Multigenic/multifactorial"
359,Pediatric-onset glaucoma of genetic origin,Childhood,"Autosomal dominant, Autosomal recessive"
2364,Glycogen storage disease due to lactate dehydrogenase deficiency,Childhood,
818,Smith-Lemli-Opitz syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
213512,Malignant mixed Müllerian tumor of the ovary,Adult,
213504,Adenocarcinoma of ovary,Adult,Not applicable
175,Cartilage-hair hypoplasia,"Antenatal, Infancy, Neonatal",Autosomal recessive
209,Cutis laxa,,"Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
42,Medium chain acyl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
213557,Salivary gland type cancer of the breast,Adult,
2066,Gamma-aminobutyric acid transaminase deficiency,"Infancy, Neonatal",Autosomal recessive
300,Bifunctional enzyme deficiency,Infancy,Autosomal recessive
213531,Metaplastic carcinoma of the breast,Adult,
213528,Rare adenocarcinoma of the breast,Adult,
3188,Congenital pulmonary veins atresia or stenosis,Childhood,Not applicable
3161,Congenital pulmonary sequestration,Neonatal,
860,Congenitally uncorrected transposition of the great arteries,"Antenatal, Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
185,Scimitar syndrome,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Not applicable
3189,Congenital pulmonary valvar stenosis,"Childhood, Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
1464,Univentricular heart,"Infancy, Neonatal",Not applicable
3400,Aorto-ventricular tunnel,"Infancy, Neonatal",Not applicable
213716,Squamous cell carcinoma of the corpus uteri,Adult,
213746,Transitional cell carcinoma of the corpus uteri,Adult,
3261,Autoimmune lymphoproliferative syndrome,All ages,"Autosomal dominant, Autosomal recessive"
2849,Perlman syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
213772,Adenocarcinoma of the cervix uteri,Adult,Not applicable
213767,Squamous cell carcinoma of the cervix uteri,Adult,
213751,Malignant germ cell tumor of the corpus uteri,"Adult, Elderly",
213792,Adenosarcoma of the cervix uteri,"Adolescent, Adult, Elderly",
213787,Carcinosarcoma of the cervix uteri,"Adult, Elderly",
213777,High-grade neuroendocrine carcinoma of the cervix uteri,"Adult, Elderly",
213812,Primitive neuroectodermal tumor of the cervix uteri,Adult,
747,Autoimmune pulmonary alveolar proteinosis,"Adolescent, Adult, Childhood","Multigenic/multifactorial, Not applicable"
213807,Leiomyosarcoma of the cervix uteri,"Adult, Elderly",
213802,Rhabdomyosarcoma of the cervix uteri,"Adolescent, Adult, Childhood",
2953,Musculocontractural Ehlers-Danlos syndrome,"Infancy, Neonatal",Autosomal recessive
3082,Intellectual disability-polydactyly-uncombable hair syndrome,Neonatal,
782,Axenfeld-Rieger syndrome,"Infancy, Neonatal",Autosomal dominant
3269,Isolated radio-ulnar synostosis,"Childhood, Infancy",Unknown
3259,Syndactyly-polydactyly-ear lobe syndrome,Neonatal,
3309,Tetrasomy 5p syndrome,"Antenatal, Neonatal",
216675,Transposition of the great arteries,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
3379,Distal duplication 17q syndrome,Neonatal,
216694,Congenitally corrected transposition of the great arteries,All ages,Not applicable
216718,Isolated congenitally uncorrected transposition of the great arteries,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
216729,Congenitally uncorrected transposition of the great arteries with cardiac malformation,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
3411,Double uterus-hemivagina-renal agenesis syndrome,"Antenatal, Infancy, Neonatal",Unknown
882,Tyrosinemia type 1,All ages,Autosomal recessive
216796,Osteogenesis imperfecta type 1,Childhood,Autosomal dominant
903,Von Willebrand disease,All ages,"Autosomal dominant, Autosomal recessive"
216804,Osteogenesis imperfecta type 2,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
216812,Osteogenesis imperfecta type 3,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
216820,Osteogenesis imperfecta type 4,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
216828,Osteogenesis imperfecta type 5,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
3474,CHIME syndrome,Childhood,Autosomal recessive
216866,Classic pantothenate kinase-associated neurodegeneration,"Infancy, Neonatal",Autosomal recessive
216873,Atypical pantothenate kinase-associated neurodegeneration,Childhood,Autosomal recessive
216972,"Niemann-Pick disease type C, severe perinatal form","Antenatal, Neonatal",Autosomal recessive
1441,Ring chromosome 17 syndrome,Childhood,"Not applicable, Unknown"
216978,"Niemann-Pick disease type C, late infantile neurologic onset",Childhood,Autosomal recessive
361,Familial glucocorticoid deficiency,"Childhood, Infancy",Autosomal recessive
216975,"Niemann-Pick disease type C, severe early infantile neurologic onset","Infancy, Neonatal",Autosomal recessive
216986,"Niemann-Pick disease type C, adult neurologic onset",Adult,Autosomal recessive
1787,"Acrofacial dysostosis, Palagonia type","Infancy, Neonatal",Unknown
216981,"Niemann-Pick disease type C, juvenile neurologic onset",Adolescent,Autosomal recessive
217008,Segmental venous malformation,"Childhood, Neonatal",Not applicable
217017,Zechi-Ceide syndrome,"Infancy, Neonatal",Autosomal recessive
217012,Spinocerebellar ataxia type 31,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
2088,Fanconi-Bickel syndrome,"Infancy, Neonatal",Autosomal recessive
217026,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type","Infancy, Neonatal",Unknown
217266,BNAR syndrome,"Antenatal, Neonatal",Autosomal recessive
179,Birdshot chorioretinopathy,"Adult, Elderly",Unknown
217260,Progressive multifocal leukoencephalopathy,All ages,Not applicable
292,Congenital enterovirus infection,"Antenatal, Neonatal",Not applicable
217253,NMDA receptor encephalitis,All ages,Not applicable
767,Polyarteritis nodosa,All ages,Not applicable
2584,Classic mycosis fungoides,Adult,"Multigenic/multifactorial, Not applicable"
217093,"Mucopolysaccharidosis type 2, attenuated form",Childhood,X-linked recessive
3162,Sézary syndrome,Adult,"Multigenic/multifactorial, Not applicable"
217085,"Mucopolysaccharidosis type 2, severe form",Childhood,X-linked recessive
217080,Pulmonary fungal infections in patients deemed at risk,All ages,Not applicable
217074,Rare carcinoma of pancreas,Adult,Not applicable
2330,Kasabach-Merritt phenomenon,"Infancy, Neonatal",Not applicable
217071,Renal cell carcinoma,Adult,Not applicable
217067,Pouchitis,All ages,Not applicable
2700,Noma,Childhood,
217064,5-fluorouracil poisoning,"Adult, Elderly",Not applicable
1451,CINCA syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
217059,Isolated nail clubbing,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
217055,Autosomal recessive intermediate Charcot-Marie-Tooth disease type A,Childhood,Autosomal recessive
556,Malakoplakia,Adult,Unknown
217335,RIN2 syndrome,"Infancy, Neonatal",Autosomal recessive
2745,Opitz GBBB syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
217340,17q21.31 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
3260,Idiopathic hypereosinophilic syndrome,Adult,Not applicable
217330,REN-related autosomal dominant tubulointerstitial kidney disease,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
2086,Optic pathway glioma,All ages,Not applicable
2566,Chronic Epstein-Barr virus infection syndrome,"Adolescent, Adult, Childhood",Unknown
3385,African trypanosomiasis,All ages,Not applicable
1560,Cysticercosis,All ages,Not applicable
566,Congenital microcoria,"Infancy, Neonatal",Autosomal dominant
341,Viral hemorrhagic fever,All ages,Not applicable
340,Hemorrhagic fever-renal syndrome,All ages,Not applicable
2552,Microsporidiosis,All ages,Not applicable
1171,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,"Infancy, Neonatal","Autosomal dominant, Mitochondrial inheritance"
217560,Neuroendocrine cell hyperplasia of infancy,"Infancy, Neonatal",Not applicable
217557,Pulmonary interstitial glycogenosis,"Infancy, Neonatal",Not applicable
1686,Cardiac diverticulum,"Infancy, Neonatal",Not applicable
217566,Chronic respiratory distress with surfactant metabolism deficiency,All ages,Autosomal dominant
217563,Neonatal acute respiratory distress syndrome,Neonatal,Autosomal recessive
217407,Hereditary hypotrichosis with recurrent skin vesicles,"Infancy, Neonatal",Autosomal recessive
1456,Middle aortic syndrome,Childhood,Not applicable
217467,Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,,Autosomal dominant
1457,Coarctation of aorta,"Adolescent, Adult, Childhood, Infancy, Neonatal",Not applicable
217390,Combined immunodeficiency due to DOCK8 deficiency,"Infancy, Neonatal",Autosomal recessive
1132,Aortic arch defects,Childhood,Not applicable
217385,17p13.3 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
217399,Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation,"Infancy, Neonatal",Unknown
217396,Progressive polyneuropathy with bilateral striatal necrosis,Childhood,Autosomal recessive
982,Pulmonary valve agenesis,"Infancy, Neonatal",Not applicable
217371,Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,"Infancy, Neonatal",Autosomal recessive
217346,19q13.11 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
980,Absence of the pulmonary artery,All ages,Not applicable
217382,Neurodegenerative syndrome due to cerebral folate transport deficiency,Childhood,Autosomal recessive
1054,Aneurysm of sinus of Valsalva,Adult,Unknown
217377,Microduplication Xp11.22p11.23 syndrome,"Infancy, Neonatal","Not applicable, X-linked dominant"
3093,Congenital aortic valve stenosis,"Infancy, Neonatal",
217622,Sensorineural deafness with dilated cardiomyopathy,Childhood,Autosomal dominant
3092,Fixed subaortic stenosis,Childhood,No data available
217604,Dilated cardiomyopathy,All ages,
2299,Aortic arch interruption,"Infancy, Neonatal",Not applicable
3427,Double outlet left ventricle,"Infancy, Neonatal",Not applicable
3426,Double outlet right ventricle,"Infancy, Neonatal",Multigenic/multifactorial
439,Isolated right ventricular hypoplasia,"Infancy, Neonatal","Autosomal recessive, Not applicable"
422,Idiopathic/heritable pulmonary arterial hypertension,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
2038,Pulmonary arteriovenous malformation,Infancy,"Multigenic/multifactorial, Unknown"
2041,Coronary arterial fistula,All ages,Not applicable
282,Frontotemporal dementia,Adult,Autosomal dominant
331,Congenital factor XIII deficiency,All ages,"Autosomal recessive, Not applicable"
159,Carnitine-acylcarnitine translocase deficiency,"Infancy, Neonatal",Autosomal recessive
707,Plague,All ages,
335,Congenital fibrinogen deficiency,All ages,"Autosomal dominant, Autosomal recessive"
79,Congenital alpha2-antiplasmin deficiency,Childhood,Autosomal recessive
217656,Inherited isolated arrhythmogenic cardiomyopathy,No data available,Autosomal dominant
1070,Anisakiasis,"Adolescent, Adult, Childhood, Elderly",
1467,Cogan syndrome,"Adolescent, Adult, Childhood",Not applicable
2157,Histidinemia,"Infancy, Neonatal",Autosomal recessive
220402,Limited cutaneous systemic sclerosis,Adult,"Multigenic/multifactorial, Not applicable"
3124,Saccharopinuria,"Infancy, Neonatal",Autosomal recessive
220407,Limited systemic sclerosis,Adult,Not applicable
220386,Semilobar holoprosencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
2203,Hyperlysinemia,All ages,Autosomal recessive
220393,Diffuse cutaneous systemic sclerosis,Adult,"Multigenic/multifactorial, Not applicable"
332,Congenital intrinsic factor deficiency,Childhood,"Autosomal recessive, Not applicable"
220448,Macrothrombocytopenia with mitral valve insufficiency,Childhood,
2967,Transcobalamin I deficiency,"Adult, Elderly",
220436,Quebec platelet disorder,Adult,Autosomal dominant
2195,Dicarboxylic aminoaciduria,"Infancy, Neonatal",Autosomal recessive
2170,Methylcobalamin deficiency type cblG,All ages,Autosomal recessive
220295,Xeroderma pigmentosum-Cockayne syndrome complex,"Infancy, Neonatal",Autosomal recessive
414,Gyrate atrophy of choroid and retina,Childhood,Autosomal recessive
622,Homocystinuria without methylmalonic aciduria,All ages,Autosomal recessive
927,Hyperammonemia due to N-acetylglutamate synthase deficiency,All ages,Autosomal recessive
3402,Transient tyrosinemia of the newborn,Neonatal,
2880,Phosphoenolpyruvate carboxykinase deficiency,"Infancy, Neonatal","Autosomal recessive, Mitochondrial inheritance"
941,D-glyceric aciduria,All ages,Autosomal recessive
220465,Laron syndrome with immunodeficiency,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
220460,Attenuated familial adenomatous polyposis,Adult,"Autosomal dominant, Autosomal recessive"
220489,Rare hereditary hemochromatosis,All ages,"Autosomal dominant, Autosomal recessive"
19,2-hydroxyglutaric aciduria,Childhood,"Autosomal dominant, Autosomal recessive"
2843,Pentosuria,"Infancy, Neonatal",Autosomal recessive
220497,Joubert syndrome with renal defect,"Infancy, Neonatal",Autosomal recessive
212,Cystathioninuria,All ages,Autosomal recessive
220493,Joubert syndrome with ocular defect,"Infancy, Neonatal",Autosomal recessive
470,Lysinuric protein intolerance,"Infancy, Neonatal",Autosomal recessive
221074,Marchiafava-Bignami disease,Adult,
145,Hereditary breast and/or ovarian cancer syndrome,"Adult, Elderly",Autosomal dominant
2965,Prolactinoma,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
221083,Hemifacial spasm,"Adult, Elderly",
221091,Trigeminal neuralgia,"Adolescent, Adult, Elderly",Not applicable
538,Lymphangioleiomyomatosis,Adult,Not applicable
221098,Glossopharyngeal neuralgia,"Adolescent, Adult, Elderly",
2942,Postpoliomyelitis syndrome,"Adolescent, Adult, Elderly",Not applicable
1578,Pterin-4 alpha-carbinolamine dehydratase deficiency,Neonatal,Autosomal recessive
3208,Isolated succinate-CoQ reductase deficiency,"Infancy, Neonatal",Autosomal recessive
221008,Rothmund-Thomson syndrome type 1,"Infancy, Neonatal",Autosomal recessive
24,Fumaric aciduria,"Infancy, Neonatal",Autosomal recessive
221016,Rothmund-Thomson syndrome type 2,"Infancy, Neonatal",Autosomal recessive
1561,Fatal infantile cytochrome C oxidase deficiency,"Infancy, Neonatal",Autosomal recessive
221039,"Hereditary sclerosing poikiloderma, Weary type",Childhood,
1460,Isolated complex III deficiency,"Childhood, Infancy, Neonatal","Autosomal recessive, Mitochondrial inheritance"
851,Paris-Trousseau thrombocytopenia,"Infancy, Neonatal",
221043,Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome,Infancy,Autosomal dominant
221046,Poikiloderma with neutropenia,"Childhood, Infancy, Neonatal",Autosomal recessive
745,Severe hereditary thrombophilia due to congenital protein C deficiency,Neonatal,"Autosomal dominant, Autosomal recessive"
221054,Acrocephalopolydactyly,"Infancy, Neonatal",Autosomal recessive
221061,Familial cerebral cavernous malformation,All ages,Autosomal dominant
849,Glanzmann thrombasthenia,"Infancy, Neonatal",Autosomal recessive
225154,Familial infantile bilateral striatal necrosis,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Mitochondrial inheritance"
225123,TFR2-related hemochromatosis,"Adolescent, Adult",Autosomal recessive
225147,Sporadic infantile bilateral striatal necrosis,All ages,Not applicable
221120,Pseudoaminopterin syndrome,"Antenatal, Neonatal",
221126,Fowler vasculopathy,"Antenatal, Neonatal",Autosomal recessive
221139,Combined immunodeficiency with facio-oculo-skeletal anomalies,Neonatal,Multigenic/multifactorial
221142,Confetti-like macular atrophy,Adult,
221145,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",Neonatal,Autosomal recessive
228003,Severe combined immunodeficiency due to CORO1A deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
3398,Thymic epithelial neoplasm,Adult,"Autosomal recessive, Not applicable"
228000,Idiopathic CD4 lymphocytopenia,Adult,Not applicable
547,Non-Hodgkin lymphoma,"Adolescent, Adult, Childhood, Elderly, Infancy",
227990,Autoimmune polyendocrinopathy type 4,Adult,Multigenic/multifactorial
842,Testicular seminomatous germ cell tumor,Adult,Not applicable
227982,Autoimmune polyendocrinopathy type 3,All ages,Multigenic/multifactorial
227976,"Autosomal recessive optic atrophy, OPA7 type",Childhood,Autosomal recessive
876,Yolk sac tumor,"Adolescent, Adult",Not applicable
227972,Toxic oil syndrome,All ages,Not applicable
227796,Fundus albipunctatus,Childhood,"Autosomal dominant, Autosomal recessive"
228123,Coccidioidomycosis,All ages,Not applicable
228119,Fusariosis,All ages,Not applicable
228116,Hughes-Stovin syndrome,Adult,Not applicable
228113,Anal fistula,All ages,Not applicable
389,Langerhans cell histiocytosis,All ages,Unknown
228012,Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,All ages,Autosomal dominant
616,Medulloblastoma,All ages,Not applicable
301,Ependymal tumor,All ages,
541,Primary cutaneous CD30+ T-cell lymphoproliferative disease,Adult,
543,Burkitt lymphoma,All ages,Not applicable
319,Skeletal Ewing sarcoma,All ages,Not applicable
227535,Hereditary breast cancer,"Adult, Elderly","Autosomal dominant, Multigenic/multifactorial"
668,Osteosarcoma,Childhood,Not applicable
227510,"Multiple system atrophy, cerebellar type",Adult,Not applicable
94,Astrocytoma,All ages,
360,Glioblastoma,All ages,"Multigenic/multifactorial, Not applicable"
226292,Permanent congenital hypothyroidism,"Infancy, Neonatal","Autosomal recessive, Not applicable"
513,Acute lymphoblastic leukemia,All ages,
1957,Esthesioneuroblastoma,"Adult, Elderly",Not applicable
2030,Fibrosarcoma,All ages,Not applicable
2126,Solitary fibrous tumor,All ages,Not applicable
758,Pseudoxanthoma elasticum,All ages,Autosomal recessive
419,Hyperprolinemia type 1,All ages,Autosomal recessive
1501,Adrenocortical carcinoma,Childhood,Not applicable
226316,Genetic transient congenital hypothyroidism,"Infancy, Neonatal",Autosomal recessive
226307,Hypothyroidism due to deficient transcription factors involved in pituitary development or function,Infancy,"Autosomal dominant, Autosomal recessive"
3148,Malignant peripheral nerve sheath tumor,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
3273,Synovial sarcoma,All ages,Not applicable
226313,Congenital hypothyroidism due to maternal intake of antithyroid drugs,"Infancy, Neonatal",
391,Classic Hodgkin lymphoma,All ages,Unknown
2260,Oligomeganephronia,All ages,Multigenic/multifactorial
503,Larsen syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
1652,Dent disease,Childhood,X-linked recessive
2542,Isolated microphthalmia-anophthalmia-coloboma,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
3280,Syringomyelia,All ages,Not applicable
2478,Megalencephalic leukoencephalopathy with subcortical cysts,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
3337,Primary Fanconi renotubular syndrome,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
223,Arginine vasopressin resistance,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
757,Pseudohypoaldosteronism type 2,All ages,"Autosomal dominant, Autosomal recessive"
228423,GATA2 deficiency spectrum,Adult,"Autosomal dominant, Not applicable"
521,Chronic myeloid leukemia,"Adolescent, Adult, Childhood, Infancy",Not applicable
228415,5q35 microduplication syndrome,Childhood,"Not applicable, Unknown"
132,Hereditary butyrylcholinesterase deficiency,"Infancy, Neonatal",Autosomal recessive
1172,Autosomal recessive cerebellar ataxia,All ages,Autosomal recessive
229717,Non-syndromic agammaglobulinemia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
228426,Syndromic multisystem autoimmune disease due to Itch deficiency,"Infancy, Neonatal",Autosomal recessive
2345,Isolated Klippel-Feil syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
1333,Familial pancreatic carcinoma,Adult,"Autosomal dominant, Multigenic/multifactorial"
228429,Congenital generalized  lipodystrophy type 4,,Autosomal recessive
228396,Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,"Infancy, Neonatal",Autosomal recessive
228387,Spondylo-megaepiphyseal-metaphyseal dysplasia,"Infancy, Neonatal",Autosomal recessive
228390,Frontonasal dysplasia-alopecia-genital anomalies syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
228410,Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal dominant
228399,8q12 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
2781,Osteopetrosis and related disorders,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
228402,2q23.1 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
228366,CLN7 disease,Infancy,
228363,CLN6 disease,Infancy,Autosomal recessive
228360,CLN5 disease,Infancy,
228384,5q14.3 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
228379,Virus-associated trichodysplasia spinulosa,All ages,Not applicable
228374,Charcot-Marie-Tooth disease type 2B5,"Childhood, Infancy",Autosomal recessive
228371,Foodborne botulism,All ages,
228337,CLN10 disease,"Adult, Antenatal, Infancy",Autosomal recessive
228329,CLN1 disease,Infancy,Autosomal recessive
228354,CLN8 disease,Infancy,Autosomal recessive
228349,CLN2 disease,Infancy,Autosomal recessive
228346,CLN3 disease,Infancy,Autosomal recessive
228343,CLN4 disease,Adult,
228290,White fibrous papulosis of the neck,Adult,Not applicable
228293,Pseudoxanthoma elasticum-like papillary dermal elastolysis,Adult,Not applicable
228299,Mid-dermal elastolysis,Adult,Not applicable
228302,"Carnitine palmitoyl transferase II deficiency, myopathic form","Adolescent, Adult, Childhood, Infancy",Autosomal recessive
228305,"Carnitine palmitoyl transferase II deficiency, severe infantile form","Infancy, Neonatal",Autosomal recessive
228308,"Carnitine palmitoyl transferase II deficiency, neonatal form",Neonatal,Autosomal recessive
228312,"Autoimmune hemolytic anemia, cold type",All ages,Multigenic/multifactorial
228240,Elastoderma,"Adolescent, Adult",Not applicable
135,CACH syndrome,Childhood,Autosomal recessive
228243,Elastofibroma dorsi,Adult,Not applicable
228247,Acquired pseudoxanthoma elasticum,Adult,Not applicable
228254,Elastoma,Childhood,Not applicable
228264,Papular elastorrhexis,All ages,Not applicable
228272,Primary anetoderma,All ages,Not applicable
228277,Familial anetoderma,All ages,"Autosomal dominant, Autosomal recessive"
228285,Acquired cutis laxa,All ages,Not applicable
228190,Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,"Infancy, Neonatal",Autosomal dominant
3203,Overhydrated hereditary stomatocytosis,"Infancy, Neonatal",Autosomal dominant
3202,Dehydrated hereditary stomatocytosis,"Antenatal, Neonatal",Autosomal dominant
228236,Linear focal elastosis,All ages,Not applicable
228227,Late-onset focal dermal elastosis,Adult,Not applicable
228140,Idiopathic ventricular fibrillation,All ages,"Autosomal dominant, Not applicable"
1018,X-linked Alport syndrome-diffuse leiomyomatosis,"Adolescent, Adult, Childhood",X-linked dominant
228165,Baló concentric sclerosis,Adult,Multigenic/multifactorial
306,Self-limited infantile epilepsy,"Infancy, Neonatal",Autosomal dominant
228157,Marburg acute multiple sclerosis,Adult,Multigenic/multifactorial
328,Congenital factor X deficiency,All ages,Autosomal recessive
228174,Autosomal dominant Charcot-Marie-Tooth disease type 2N,All ages,Autosomal dominant
228169,Autosomal dominant striatal neurodegeneration,Adult,Autosomal dominant
2132,Hemoglobin C disease,All ages,Autosomal recessive
2133,Hemoglobin E disease,All ages,Autosomal recessive
228179,Autosomal dominant Charcot-Marie-Tooth disease type 2M,All ages,Autosomal dominant
288,Hereditary elliptocytosis,All ages,"Autosomal dominant, Autosomal recessive"
231531,Hermansky-Pudlak syndrome due to BLOC-1 deficiency,,Autosomal recessive
231512,Hermansky-Pudlak syndrome due to BLOC-2 deficiency,"Infancy, Neonatal",Autosomal recessive
1320,Idiopathic camptocormia,"Adult, Elderly",Not applicable
256,Early-onset generalized limb-onset dystonia,"Adolescent, Adult, Childhood",Autosomal dominant
231500,Hermansky-Pudlak syndrome due to BLOC-3 deficiency,"Infancy, Neonatal",Autosomal recessive
441,Pure autonomic failure,"Adult, Elderly",Not applicable
231457,Acute pandysautonomia,All ages,"Multigenic/multifactorial, Not applicable"
231466,Acute sensory ataxic neuropathy,All ages,"Multigenic/multifactorial, Not applicable"
1576,Infantile bilateral striatal necrosis,All ages,"Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable"
231445,Paraparetic variant of Guillain-Barré syndrome,All ages,"Multigenic/multifactorial, Not applicable"
231450,Acute pure sensory neuropathy,All ages,"Multigenic/multifactorial, Not applicable"
2073,Narcolepsy type 1,"Adolescent, Adult, Childhood",Unknown
231426,Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome,All ages,"Multigenic/multifactorial, Not applicable"
231416,Regional variant of Guillain-Barré syndrome,All ages,"Multigenic/multifactorial, Not applicable"
231419,Functional variant of Guillain-Barré syndrome,All ages,"Multigenic/multifactorial, Not applicable"
231401,Alpha-thalassemia-myelodysplastic syndrome,Adult,Not applicable
231413,Variant of Guillain-Barré syndrome,All ages,"Multigenic/multifactorial, Not applicable"
1866,"Focal, segmental or multifocal dystonia",Adult,Autosomal dominant
2611,Linear verrucous nevus syndrome,Neonatal,
231393,Beta-thalassemia-X-linked thrombocytopenia syndrome,No data available,X-linked recessive
809,Mixed connective tissue disease,"Adolescent, Adult, Childhood",Multigenic/multifactorial
1309,Medullary sponge kidney,"Adult, Childhood","Autosomal dominant, Not applicable"
231249,Hemoglobin E-beta-thalassemia syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
231242,Hemoglobin C-beta-thalassemia syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
2197,Idiopathic hypercalciuria,"Adolescent, Adult, Childhood",Autosomal dominant
231237,Delta-beta-thalassemia,"Infancy, Neonatal",Autosomal recessive
231230,Beta-thalassemia associated with another hemoglobin anomaly,All ages,"Autosomal dominant, Autosomal recessive"
231226,Unstable beta globin chain variant disease,Childhood,Autosomal dominant
18,Distal renal tubular acidosis,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
231222,Beta-thalassemia intermedia,Childhood,Autosomal recessive
160,Castleman disease,All ages,Not applicable
231214,Beta-thalassemia major,"Infancy, Neonatal",Autosomal recessive
2841,Hailey-Hailey disease,Adult,Autosomal dominant
231183,Usher syndrome type 3,"Adolescent, Childhood",Autosomal recessive
347,Frasier syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
231178,Usher syndrome type 2,"Infancy, Neonatal",Autosomal recessive
1670,Chronic diarrhea with villous atrophy,Infancy,
2596,Myopathy and diabetes mellitus,"Adolescent, Adult, Childhood, Infancy, Neonatal",Mitochondrial inheritance
231154,Combined immunodeficiency due to partial RAG1 deficiency,"Infancy, Neonatal",Autosomal recessive
2966,Properdin deficiency,,X-linked recessive
231160,Familial cerebral saccular aneurysm,All ages,"Autosomal dominant, Autosomal recessive"
231169,Usher syndrome type 1,"Infancy, Neonatal",Autosomal recessive
231137,Silver-Russell syndrome due to 7p11.2p13 microduplication,"Infancy, Neonatal","Autosomal dominant, Not applicable"
231140,Silver-Russell syndrome due to an imprinting defect of 11p15,"Antenatal, Neonatal","Not applicable, Unknown"
231144,Silver-Russell syndrome due to 11p15 microduplication,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
231147,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,"Infancy, Neonatal","Not applicable, Unknown"
231120,Beckwith-Wiedemann syndrome due to CDKN1C mutation,"Infancy, Neonatal",Autosomal dominant
231127,Beckwith-Wiedemann syndrome due to 11p15 microdeletion,,Not applicable
231130,Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion,"Infancy, Neonatal",
231080,High-grade dysplasia in patients with Barrett esophagus,All ages,Not applicable
405,Familial hypocalciuric hypercalcemia,All ages,Autosomal dominant
231108,Rhabdoid tumor predisposition syndrome,Childhood,Autosomal dominant
231111,Drug-induced lupus erythematosus,All ages,Not applicable
231117,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,"Infancy, Neonatal",
1223,Balantidiasis,All ages,Not applicable
231040,Familial generalized lentiginosis,All ages,"Autosomal dominant, Unknown"
3318,Essential thrombocythemia,All ages,"Multigenic/multifactorial, Not applicable"
230857,Ehlers-Danlos/osteogenesis imperfecta syndrome,"Infancy, Neonatal",Autosomal dominant
230851,Cardiac-valvular Ehlers-Danlos syndrome,"Infancy, Neonatal",Autosomal recessive
231031,Erythema palmare hereditarium,"Infancy, Neonatal",Autosomal dominant
913,Zollinger-Ellison syndrome,"Adult, Elderly",Not applicable
231013,Congenital trigeminal anesthesia,"Infancy, Neonatal",Not applicable
230800,Toxin-mediated infectious botulism,All ages,
82,Hereditary thrombophilia due to congenital antithrombin deficiency,"Adolescent, Adult",Autosomal dominant
230839,Classical-like Ehlers-Danlos syndrome type 1,"Childhood, Infancy, Neonatal",Autosomal recessive
519,Acute myeloid leukemia,All ages,
235936,Familial hyperaldosteronism,All ages,Autosomal dominant
238269,AApoAII amyloidosis,,Autosomal dominant
238446,15q11q13 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
238329,Severe X-linked mitochondrial encephalomyopathy,"Infancy, Neonatal",X-linked recessive
231573,Congenital erosive and vesicular dermatosis,"Infancy, Neonatal",Not applicable
231580,Primary unilateral adrenal hyperplasia,All ages,Not applicable
231556,Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,Childhood,Unknown
231568,Autosomal dominant generalized dystrophic epidermolysis bullosa,"Infancy, Neonatal",Autosomal dominant
231632,Ectopic aldosterone-producing tumor,All ages,Not applicable
231637,Rare surgically correctable form of primary aldosteronism,All ages,Not applicable
231625,Adrenocortical carcinoma with pure aldosterone hypersecretion,All ages,Not applicable
1900,Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency,"Infancy, Neonatal",Autosomal recessive
231671,Isolated growth hormone deficiency type IB,"Infancy, Neonatal",Autosomal recessive
286,Vascular Ehlers-Danlos syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
231679,Isolated growth hormone deficiency type II,"Infancy, Neonatal",Autosomal dominant
231641,Rare non surgically correctable form of primary aldosteronism,,"Autosomal dominant, Not applicable"
285,Hypermobile Ehlers-Danlos syndrome,All ages,"Autosomal dominant, Autosomal recessive"
231662,Isolated growth hormone deficiency type IA,"Infancy, Neonatal",Autosomal recessive
231736,Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,"Infancy, Neonatal",Unknown
231742,Epibulbar lipodermoid-preauricular appendage-polythelia syndrome,"Infancy, Neonatal",Autosomal dominant
257,Epidermolysis bullosa simplex with muscular dystrophy,"Infancy, Neonatal",Autosomal recessive
1901,Dermatosparaxis Ehlers-Danlos syndrome,"Infancy, Neonatal",Autosomal recessive
231692,Isolated growth hormone deficiency type III,"Infancy, Neonatal",X-linked recessive
231720,Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome,"Infancy, Neonatal",Autosomal recessive
1899,Arthrochalasia Ehlers-Danlos syndrome,"Infancy, Neonatal",Autosomal dominant
839,"Congenital nephrotic syndrome, Finnish type","Antenatal, Infancy, Neonatal",Autosomal recessive
531,Miller-Dieker syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
1084,Isolated lissencephaly type 1 without known genetic defects,"Infancy, Neonatal",Unknown
1083,Microlissencephaly,"Infancy, Neonatal",Autosomal recessive
452,X-linked lissencephaly with abnormal genitalia,Neonatal,X-linked recessive
238750,4q21 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
238763,Glaucoma secondary to spherophakia/ectopia lentis and megalocornea,"Infancy, Neonatal",Autosomal recessive
238722,Familial congenital mirror movements,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
238744,Mammary-digital-nail syndrome,"Infancy, Neonatal",Autosomal dominant
238769,1q44 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
238517,Hypotonia-cystinuria type 1 syndrome,"Infancy, Neonatal",Autosomal recessive
238505,Combined immunodeficiency due to CD27 deficiency,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
238468,Hypohidrotic ectodermal dysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
238475,Familial hypercholanemia,"Infancy, Neonatal",Autosomal recessive
238455,Infantile dystonia-parkinsonism,"Infancy, Neonatal",Autosomal recessive
238459,SLC35A1-CDG,"Infancy, Neonatal",No data available
238578,Familial clubfoot due to 17q23.1q23.2 microduplication,"Infancy, Neonatal","Autosomal dominant, Not applicable"
238583,Hyperphenylalaninemia due to tetrahydrobiopterin deficiency,"Infancy, Neonatal",Autosomal recessive
238557,Chuvash erythrocytosis,"Infancy, Neonatal",Autosomal recessive
238569,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,"Infancy, Neonatal",Autosomal recessive
238547,Acquired secondary polycythemia,All ages,Not applicable
238523,Atypical hypotonia-cystinuria syndrome,"Infancy, Neonatal",Autosomal recessive
238536,Congenital secondary polycythemia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
238637,Megacystis-megaureter syndrome,"Infancy, Neonatal",
238624,Idiopathic intracranial hypertension,"Adult, Elderly",Not applicable
238621,Ileal pouch anal anastomosis related faecal incontinence,All ages,Not applicable
238606,Primary orthostatic tremor,Adult,Not applicable
238593,IgG4-related mesenteritis,Adult,Not applicable
238688,Neonatal iodine exposure,"Infancy, Neonatal",Not applicable
238670,Isolated thyrotropin-releasing hormone deficiency,All ages,Unknown
238666,Isolated congenital hypogonadotropic hypogonadism,"Adolescent, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Oligogenic, Unknown, X-linked recessive"
238654,"Congenital primary megaureter, nonrefluxing and unobstructed form","Infancy, Neonatal",Unknown
238650,"Congenital primary megaureter, refluxing form","Infancy, Neonatal",Unknown
238646,"Congenital primary megaureter, obstructed form","Infancy, Neonatal",Unknown
238642,"Primary megaureter, adult-onset form",Adult,Unknown
240071,Classic progressive supranuclear palsy syndrome,Adult,Not applicable
240112,Progressive supranuclear palsy-progressive non-fluent aphasia syndrome,Adult,Not applicable
240103,Progressive supranuclear palsy-corticobasal syndrome,Adult,Not applicable
240094,Progressive supranuclear palsy-pure akinesia with gait freezing syndrome,Adult,Not applicable
240085,Progressive supranuclear palsy-predominant parkinsonism syndrome,Adult,Not applicable
240760,Nijmegen breakage syndrome-like disorder,Neonatal,Autosomal recessive
331226,Susceptibility to infection due to TYK2 deficiency,Infancy,Autosomal recessive
331235,Selective IgM deficiency,All ages,
331176,Severe congenital neutropenia due to G6PC3 deficiency,"Infancy, Neonatal",Autosomal recessive
331187,Immunodeficiency due to MASP-2 deficiency,Adolescent,Autosomal recessive
331190,Immunodeficiency due to ficolin3 deficiency,Childhood,Autosomal recessive
331206,Severe combined immunodeficiency due to complete RAG1/2 deficiency,Infancy,Autosomal recessive
330064,Chronic actinic dermatitis,Adult,Not applicable
330001,Wild type ATTR amyloidosis,"Adult, Elderly",Not applicable
329977,Classic neuroendocrine tumor of appendix,All ages,Not applicable
329984,Goblet cell carcinoma,Adult,Not applicable
330012,High altitude pulmonary edema,All ages,
330015,Lead poisoning,All ages,Not applicable
330032,Hemoglobin Lepore-beta-thalassemia syndrome,No data available,Autosomal recessive
330041,Hemoglobin M disease,No data available,Autosomal dominant
330021,Mercury poisoning,All ages,Not applicable
330029,Hypotrichosis-deafness syndrome,"Infancy, Neonatal",Autosomal dominant
330058,Hydroa vacciniforme,Childhood,Not applicable
330061,Actinic prurigo,Childhood,"Multigenic/multifactorial, Not applicable"
330050,DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect,"Childhood, Infancy, Neonatal",Autosomal dominant
330054,Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,"Infancy, Neonatal",Autosomal recessive
329813,Mosaic genome-wide paternal uniparental disomy syndrome,"Antenatal, Neonatal",
329802,5p13 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
329883,Non-hypoproteinemic hypertrophic gastropathy,No data available,Autosomal dominant
329874,Idiopathic giant cell myocarditis,"Adolescent, Adult, Childhood, Infancy",
329475,Spastic paraplegia-Paget disease of bone syndrome,Adult,Autosomal dominant
329481,Lipoprotein glomerulopathy,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
329478,Adult-onset distal myopathy due to VCP mutation,Adult,Autosomal dominant
329942,Transient neonatal multiple acyl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal dominant
329931,C3 glomerulonephritis,,Autosomal dominant
329971,Generalized juvenile polyposis/juvenile polyposis coli,All ages,Autosomal dominant
329967,Intermittent hydrarthrosis,Adult,
329894,Juvenile overlap myositis,"Adolescent, Childhood",
329918,C3 glomerulopathy,All ages,Multigenic/multifactorial
329903,Immunoglobulin-mediated membranoproliferative glomerulonephritis,,"Multigenic/multifactorial, Unknown"
329308,Fatty acid hydroxylase-associated neurodegeneration,"Adolescent, Childhood",Autosomal recessive
329314,Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,Adult,Autosomal recessive
329319,Thrombocythemia with distal limb defects,"Infancy, Neonatal",Autosomal dominant
329284,Beta-propeller protein-associated neurodegeneration,Childhood,X-linked dominant
329457,Distal arthrogryposis type 5D,Neonatal,Autosomal recessive
329466,"Autosomal dominant focal dystonia, DYT25 type",Adult,Autosomal dominant
329469,Acute megakaryoblastic leukemia in children without Down syndrome,Childhood,Not applicable
329329,Autosomal recessive frontotemporal pachygyria,"Infancy, Neonatal",Autosomal recessive
329332,Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,"Infancy, Neonatal",Autosomal recessive
329336,Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,Adult,"Autosomal dominant, Mitochondrial inheritance"
329228,Microcephalic primordial dwarfism due to ZNF335 deficiency,"Antenatal, Neonatal",Autosomal recessive
329224,Schuurs-Hoeijmakers syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
329217,Cerebral sinovenous thrombosis,All ages,
329211,Autosomal dominant neovascular inflammatory vitreoretinopathy,All ages,Autosomal dominant
329195,Developmental delay with autism spectrum disorder and gait instability,"Infancy, Neonatal",Autosomal recessive
329191,Tall stature-long halluces-multiple extra-epiphyses syndrome,Childhood,Autosomal dominant
329178,Congenital muscular dystrophy with intellectual disability and severe epilepsy,"Infancy, Neonatal",Autosomal recessive
329258,Autosomal dominant Charcot-Marie-Tooth disease type 2Q,"Adolescent, Adult",Autosomal dominant
329249,Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,Childhood,Autosomal dominant
329242,Congenital chronic diarrhea with protein-losing enteropathy,"Infancy, Neonatal",Autosomal recessive
329235,X-linked central congenital hypothyroidism with late-onset testicular enlargement,"Infancy, Neonatal",X-linked recessive
329173,Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,"Infancy, Neonatal",Autosomal recessive
329,Congenital factor XI deficiency,All ages,"Autosomal dominant, Autosomal recessive"
1243,Best vitelliform macular dystrophy,"Adolescent, Childhood",Autosomal dominant
325524,Classic congenital lipoid adrenal hyperplasia due to STAR deficency,,Autosomal recessive
325448,Leydig cell hypoplasia due to LHB deficiency,,Autosomal recessive
325529,Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency,,Autosomal recessive
325124,Testicular agenesis,Neonatal,
325345,"46,XY ovotesticular difference of sex development","Antenatal, Neonatal",
324964,Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis,"Adolescent, Childhood",Not applicable
324972,MAGIC syndrome,"Adolescent, Adult, Childhood",
324977,Proteasome-associated autoinflammatory syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
324936,Unclassified autoinflammatory syndrome,"Antenatal, Infancy, Neonatal",
324718,ABetaA21G amyloidosis,Adult,Autosomal dominant
324713,"ABeta amyloidosis, Italian type","Adult, Elderly",Autosomal dominant
324737,SRD5A3-CDG,"Infancy, Neonatal",Autosomal recessive
324723,"ABeta amyloidosis, Arctic type","Adult, Elderly",Autosomal dominant
324648,Invasive non-typhoidal salmonellosis,All ages,
324636,Autoerythrocyte sensitization syndrome,Adult,
324708,"ABeta amyloidosis, Iowa type",Elderly,Autosomal dominant
324703,ABetaL34V amyloidosis,"Adult, Elderly",Autosomal dominant
324611,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal dominant
324604,Classic multiminicore myopathy,"Infancy, Neonatal",Autosomal recessive
324632,Hendra virus infection,All ages,
324625,Chikungunya,All ages,Not applicable
324588,Familial dyskinesia and facial myokymia,Childhood,Autosomal dominant
324601,X-linked cleft palate and ankyloglossia,"Infancy, Neonatal","X-linked dominant, X-linked recessive"
324581,Benign Samaritan congenital myopathy,"Infancy, Neonatal",Autosomal recessive
324585,Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain,All ages,Autosomal dominant
324569,Pontocerebellar hypoplasia type 8,"Infancy, Neonatal",Autosomal recessive
324575,Hyperinsulinism due to HNF1A deficiency,"Infancy, Neonatal",Autosomal dominant
324540,Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
324561,Hypopigmentation-punctate palmoplantar keratoderma syndrome,"Infancy, Neonatal",Autosomal dominant
324530,Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,"Infancy, Neonatal",Autosomal dominant
324535,Combined oxidative phosphorylation defect type 11,"Infancy, Neonatal",Autosomal recessive
324525,Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation,"Infancy, Neonatal",No data available
324442,Autosomal recessive axonal neuropathy with neuromyotonia,Childhood,Autosomal recessive
324416,Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,"Infancy, Neonatal",Autosomal dominant
324422,ALG13-CDG,"Infancy, Neonatal",X-linked recessive
324410,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,"Infancy, Neonatal",X-linked recessive
324381,Hereditary inclusion body myopathy type 4,Adult,Autosomal dominant
324364,Mixed sclerosing bone dystrophy with extra-skeletal manifestations,Neonatal,
324353,Congenital achiasma,"Infancy, Neonatal",
324321,Sinoatrial node dysfunction and deafness,"Infancy, Neonatal",Autosomal recessive
324313,9p13 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
324307,Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome,Childhood,Unknown
324299,Multiple paragangliomas associated with polycythemia,Childhood,Not applicable
324294,T-cell immunodeficiency with epidermodysplasia verruciformis,Childhood,Autosomal recessive
324290,PRDM8-related progressive myoclonus epilepsy,Childhood,Autosomal recessive
324262,Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency,"Infancy, Neonatal",Autosomal recessive
320342,Pure or complex autosomal dominant spastic paraplegia,,Autosomal dominant
320346,Pure or complex autosomal recessive spastic paraplegia,,Autosomal recessive
320360,MT-ATP6-related mitochondrial spastic paraplegia,Adult,Mitochondrial inheritance
320355,Autosomal dominant spastic paraplegia type 41,"Adolescent, Adult",Autosomal dominant
320370,Autosomal recessive spastic paraplegia type 43,"Adolescent, Childhood",Autosomal recessive
320365,Autosomal dominant spastic paraplegia type 36,"Adolescent, Adult",Autosomal dominant
320380,Autosomal recessive spastic paraplegia type 54,"Childhood, Infancy",Autosomal recessive
320375,Autosomal recessive spastic paraplegia type 55,Childhood,Autosomal recessive
320391,Autosomal recessive spastic paraplegia type 46,"Childhood, Infancy",Autosomal recessive
320385,Hereditary sensory and autonomic neuropathy due to TECPR2 mutation,Infancy,Autosomal recessive
320401,Autosomal recessive spastic paraplegia type 44,"Adolescent, Adult",Autosomal recessive
320396,Autosomal recessive spastic paraplegia type 45,Infancy,Autosomal recessive
320411,Autosomal recessive spastic paraplegia type 56,"Childhood, Infancy, Neonatal",Autosomal recessive
320406,Spastic paraplegia-optic atrophy-neuropathy syndrome,"Childhood, Infancy",Autosomal recessive
319543,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,,Autosomal dominant
319547,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,"Infancy, Neonatal",Autosomal recessive
319535,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,All ages,Autosomal recessive
319539,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,All ages,Autosomal recessive
319519,Combined oxidative phosphorylation defect type 14,"Infancy, Neonatal",Autosomal recessive
319524,Combined oxidative phosphorylation defect type 15,"Childhood, Infancy",Autosomal recessive
319509,Combined oxidative phosphorylation defect type 9,Infancy,Autosomal recessive
319514,Combined oxidative phosphorylation defect type 13,Infancy,Autosomal recessive
319589,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Infancy,Autosomal dominant
319595,Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,Childhood,Autosomal dominant
319574,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,Infancy,Autosomal recessive
319581,Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Adolescent,Autosomal dominant
319563,Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,Childhood,Autosomal recessive
319569,Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,Infancy,Autosomal recessive
319552,Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,Childhood,Autosomal recessive
319558,Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,"Infancy, Neonatal",Autosomal recessive
319651,Constitutional megaloblastic anemia with severe neurologic disease,"Childhood, Infancy",Autosomal recessive
319646,PGM1-CDG,"Infancy, Neonatal",Autosomal recessive
319640,Retinal macular dystrophy type 2,"Adolescent, Adult",Autosomal dominant
319635,Amyloidosis cutis dyschromia,Childhood,Autosomal recessive
319605,X-linked mendelian susceptibility to mycobacterial diseases,"Adolescent, Childhood, Infancy",X-linked recessive
319600,Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,"Infancy, Neonatal",Autosomal dominant
319678,Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,Neonatal,Autosomal recessive
319675,"Microcephalic primordial dwarfism, Dauber type","Antenatal, Neonatal",Autosomal recessive
319671,Alazami syndrome,"Antenatal, Neonatal",Autosomal recessive
319254,Kyasanur forest disease,All ages,
319266,Omsk hemorrhagic fever,All ages,
319276,Clear cell renal carcinoma,"Adult, Elderly",Not applicable
319239,Brazilian hemorrhagic fever,All ages,
319244,Chapare hemorrhagic fever,All ages,
319251,Rift valley fever,All ages,
319319,Renal medullary carcinoma,Adult,
319322,Mucinous tubular and spindle cell renal carcinoma,"Adolescent, Adult, Elderly",
319325,Tubulocystic renal cell carcinoma,"Adult, Elderly",
319298,Papillary renal cell carcinoma,"Adult, Elderly",Not applicable
319303,Chromophobe renal cell carcinoma,"Adult, Elderly",
319308,MiT family translocation renal cell carcinoma,"Adolescent, Adult, Childhood, Elderly, Infancy",
319332,Autosomal recessive myogenic arthrogryposis multiplex congenita,Neonatal,Autosomal recessive
319340,Carney complex-trismus-pseudocamptodactyly syndrome,Neonatal,Not applicable
319487,Familial papillary or follicular thyroid carcinoma,Adult,Not applicable
319480,Acute myeloid leukemia with CEBPA somatic mutations,,Not applicable
319504,Combined oxidative phosphorylation defect type 8,"Infancy, Neonatal",Autosomal recessive
319465,Inherited acute myeloid leukemia,,Autosomal dominant
319462,Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations,,Autosomal recessive
319213,Lujo hemorrhagic fever,All ages,
319195,Chondroectodermal dysplasia with night blindness,"Infancy, Neonatal",
319199,Autosomal recessive spastic paraplegia type 53,Infancy,Autosomal recessive
319229,Bolivian hemorrhagic fever,All ages,
319234,Venezuelan hemorrhagic fever,All ages,
319218,Ebola hemorrhagic fever,All ages,Not applicable
319223,Argentine hemorrhagic fever,All ages,
319160,Congenital myopathy with internal nuclei and atypical cores,Neonatal,Autosomal dominant
319171,Distal 17p13.1 microdeletion syndrome,"Infancy, Neonatal",Not applicable
319189,Familial cortical myoclonus,Adult,Autosomal dominant
319192,Diencephalic-mesencephalic junction dysplasia,"Antenatal, Neonatal",Autosomal recessive
319182,Wiedemann-Steiner syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
317428,Combined immunodeficiency due to ORAI1 deficiency,"Infancy, Neonatal",Autosomal recessive
317425,Severe combined immunodeficiency due to DNA-PKcs deficiency,"Infancy, Neonatal",Autosomal recessive
317430,Combined immunodeficiency due to STIM1 deficiency,"Infancy, Neonatal",Autosomal recessive
317473,Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
317476,XMEN,"Adolescent, Adult, Childhood",X-linked recessive
315311,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form","Infancy, Neonatal",Autosomal recessive
315306,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form","Infancy, Neonatal",Autosomal recessive
314993,Cataract-congenital heart disease-neural tube defect syndrome,"Infancy, Neonatal",
314978,X-linked non progressive cerebellar ataxia,"Infancy, Neonatal",X-linked recessive
314970,Lymphocytic hypereosinophilic syndrome,All ages,
314962,Secondary hypereosinophilic syndrome,All ages,
314950,Primary hypereosinophilic syndrome,All ages,
314918,Mild Canavan disease,Childhood,Autosomal recessive
314911,Severe Canavan disease,"Infancy, Neonatal",Autosomal recessive
316235,Autosomal dominant spastic ataxia,,Autosomal dominant
316240,Autosomal recessive spastic ataxia,,Autosomal recessive
314701,Primary systemic amyloidosis,,Not applicable
314709,Primary localized amyloidosis,,Not applicable
314679,Cerebrofacioarticular syndrome,"Infancy, Neonatal",Autosomal recessive
314667,TMEM165-CDG,"Infancy, Neonatal",Autosomal recessive
314689,Combined immunodeficiency due to STK4 deficiency,Childhood,Autosomal recessive
314684,Primary bone lymphoma,All ages,
314652,Variant ABeta2M amyloidosis,Adult,Autosomal dominant
314647,Non-progressive cerebellar ataxia with intellectual disability,"Infancy, Neonatal",Autosomal dominant
314662,Segmental progressive overgrowth syndrome with fibroadipose hyperplasia,"Antenatal, Neonatal",Not applicable
314655,Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,"Infancy, Neonatal",Unknown
314629,CLN11 disease,"Adolescent, Infancy",
314621,Duplication of the pituitary gland,"Infancy, Neonatal",Not applicable
314637,Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,"Infancy, Neonatal",Unknown
314632,CLN12 disease,Childhood,Autosomal recessive
314802,Short stature due to partial GHR deficiency,Childhood,Unknown
314811,Short stature due to GHSR deficiency,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
314889,Autosomal dominant proximal renal tubular acidosis,Childhood,Autosomal dominant
314777,Familial isolated pituitary adenoma,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal dominant
314786,Silent pituitary adenoma,,Not applicable
314790,Null pituitary adenoma,,Not applicable
314795,SHOX-related short stature,"Infancy, Neonatal",Autosomal dominant
314769,Somatomammotropinoma,"Adolescent, Adult",
314718,Lethal arteriopathy syndrome due to fibulin-4 deficiency,"Infancy, Neonatal",Autosomal recessive
314721,Atypical dentin dysplasia due to SMOC2 deficiency,"Infancy, Neonatal",Autosomal recessive
370127,Medich giant platelet syndrome,"Infancy, Neonatal",
370109,Ataxia-telangiectasia variant,,Autosomal recessive
370103,"Primary dystonia, DYT17 type","Adolescent, Adult",Autosomal recessive
370097,Oculocutaneous albinism type 6,"Infancy, Neonatal",Autosomal recessive
370091,Oculocutaneous albinism type 5,"Infancy, Neonatal",Autosomal recessive
370396,Small cell carcinoma of the ovary,"Adolescent, Adult, Childhood, Infancy",Not applicable
370348,Peripheral primitive neuroectodermal tumor,"Adolescent, Adult, Childhood",Not applicable
370334,Extraskeletal Ewing sarcoma,"Adolescent, Adult, Childhood",Not applicable
370131,White platelet syndrome,No data available,Autosomal dominant
370046,Didymosis aplasticosebacea,"Infancy, Neonatal",Not applicable
370034,Familial syringomyelia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
370039,Angora hair nevus,"Infancy, Neonatal","Not applicable, Unknown"
370022,Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome,"Infancy, Neonatal",Autosomal recessive
370026,Acute myeloid leukemia with t(8;16)(p11;p13) translocation,All ages,Not applicable
370015,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type","Infancy, Neonatal",Autosomal dominant
370088,Acute infantile liver failure-multisystemic involvement syndrome,"Infancy, Neonatal",Autosomal recessive
370076,Fetal carbamazepine syndrome,"Antenatal, Infancy, Neonatal",Not applicable
370079,Proximal 16p11.2 microduplication syndrome,"Infancy, Neonatal",
370052,SCALP syndrome,Neonatal,Not applicable
371007,Congenital muscular dystrophy with hyperlaxity,Neonatal,
370997,Muscle-eye-brain disease with bilateral multicystic leucodystrophy,Infancy,Autosomal recessive
370921,STT3A-CDG,"Infancy, Neonatal",Autosomal recessive
370924,STT3B-CDG,"Infancy, Neonatal",Autosomal recessive
370927,SSR4-CDG,"Infancy, Neonatal",X-linked recessive
370930,XYLT1-CDG,"Infancy, Neonatal",Autosomal recessive
370959,Congenital muscular dystrophy with cerebellar involvement,"Infancy, Neonatal",Autosomal recessive
370968,Congenital muscular dystrophy with intellectual disability,"Infancy, Neonatal",Autosomal recessive
370980,Congenital muscular dystrophy without intellectual disability,"Infancy, Neonatal",Autosomal recessive
370933,GM3 synthase deficiency,,Autosomal recessive
370943,Autism spectrum disorder-epilepsy-arthrogryposis syndrome,"Infancy, Neonatal",Autosomal recessive
369929,Primary hyperaldosteronism-seizures-neurological abnormalities syndrome,"Infancy, Neonatal",Not applicable
369920,Pontocerebellar hypoplasia type 9,"Infancy, Neonatal",Autosomal recessive
369942,CADDS,"Infancy, Neonatal",X-linked recessive
369939,Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,"Infancy, Neonatal",Autosomal recessive
369955,"Methylmalonic acidemia with homocystinuria, type cblJ","Infancy, Neonatal",Autosomal recessive
369950,Intellectual disability-seizures-macrocephaly-obesity syndrome,"Infancy, Neonatal","Not applicable, Unknown"
369970,Microcornea-myopic chorioretinal atrophy-telecanthus syndrome,Childhood,Autosomal recessive
369962,"Methylmalonic acidemia with homocystinuria, type cblX","Infancy, Neonatal",X-linked recessive
369979,Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome,"Infancy, Neonatal",
369992,Severe dermatitis-multiple allergies-metabolic wasting syndrome,"Infancy, Neonatal",Autosomal recessive
370002,Focal palmoplantar keratoderma with joint keratoses,"Infancy, Neonatal",Autosomal dominant
369999,Diffuse palmoplantar keratoderma with painful fissures,"Infancy, Neonatal",Autosomal dominant
370010,Intellectual disability-facial dysmorphism-hand anomalies syndrome,"Infancy, Neonatal",Autosomal recessive
369837,Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome,"Infancy, Neonatal",Autosomal recessive
369840,TRAPPC11-related limb-girdle muscular dystrophy R18,"Childhood, Infancy",Autosomal recessive
369847,Intellectual disability-hyperkinetic movement-truncal ataxia syndrome,Childhood,Autosomal recessive
369852,Congenital neutropenia-myelofibrosis-nephromegaly syndrome,"Infancy, Neonatal",Autosomal recessive
369861,Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,"Infancy, Neonatal",Autosomal recessive
369867,Autosomal recessive intermediate Charcot-Marie-Tooth disease type C,"Adult, All ages, Childhood",Autosomal recessive
369873,Obesity due to SIM1 deficiency,"Infancy, Neonatal",Autosomal recessive
369881,2p21 microdeletion syndrome without cystinuria,"Infancy, Neonatal",Autosomal recessive
369886,Homozygous 2p21 microdeletion syndrome,,Not applicable
369891,Developmental delay-facial dysmorphism syndrome due to MED13L deficiency,"Infancy, Neonatal",Autosomal dominant
369897,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies","Infancy, Neonatal",Autosomal recessive
369913,Combined oxidative phosphorylation defect type 17,"Infancy, Neonatal",Autosomal recessive
364063,Infantile epileptic-dyskinetic encephalopathy,"Infancy, Neonatal",X-linked recessive
364055,Severe early-childhood-onset retinal dystrophy,"Childhood, Infancy",Autosomal recessive
364039,Hydroa vacciniforme-like lymphoma,"Adult, Childhood",Not applicable
364043,ALK-positive large B-cell lymphoma,,"Multigenic/multifactorial, Not applicable"
364028,X-linked intellectual disability due to GRIA3 mutations,Infancy,X-linked recessive
364033,Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,Childhood,Not applicable
772,Infantile Refsum disease,All ages,Autosomal recessive
1194,TMEM70-related mitochondrial encephalo-cardio-myopathy,"Infancy, Neonatal",Autosomal recessive
363999,Non-immune hydrops fetalis,"Antenatal, Neonatal",Not applicable
1048,Isolated anencephaly/exencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
364013,Immune hydrops fetalis,"Antenatal, Neonatal",Not applicable
363989,Familial benign flecked retina,"Adult, Childhood",Autosomal recessive
823,Spina bifida and other spinal dysraphisms,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
363992,Ichthyosis-short stature-brachydactyly-microspherophakia syndrome,"Infancy, Neonatal",Autosomal recessive
363976,Giant cell tumor of bone,Adult,Not applicable
363981,Charcot-Marie-Tooth disease type 4B3,Childhood,Autosomal recessive
363969,Autosomal recessive cerebral atrophy,"Infancy, Neonatal",Autosomal recessive
363972,Noonan syndrome-like disorder with juvenile myelomonocytic leukemia,"Infancy, Neonatal",Autosomal dominant
363965,Koolen-De Vries syndrome due to a point mutation,"Infancy, Neonatal",Autosomal dominant
363958,17q21.31 microdeletion syndrome,"Infancy, Neonatal",Autosomal dominant
363746,Balint syndrome,All ages,Not applicable
363741,Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome,"Infancy, Neonatal",Autosomal dominant
363727,X-linked dyserythropoietic anemia with abnormal platelets and neutropenia,All ages,X-linked recessive
363722,Alexander disease type II,"Adolescent, Adult, Childhood",Autosomal dominant
363717,Alexander disease type I,"Infancy, Neonatal",Not applicable
363710,Spinocerebellar ataxia type 37,Adult,Autosomal dominant
363705,Craniofaciofrontodigital syndrome,Neonatal,Unknown
363700,Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,"Infancy, Neonatal",Autosomal dominant
363694,Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,"Infancy, Neonatal",Autosomal recessive
363686,Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,"Infancy, Neonatal",Autosomal dominant
363680,2p13.2 microdeletion syndrome,"Infancy, Neonatal",Autosomal dominant
363677,Childhood-onset autosomal recessive myopathy with external ophthalmoplegia,Childhood,Autosomal recessive
364577,Intellectual disability-brachydactyly-Pierre Robin syndrome,Neonatal,
364198,Bipartite talus,"Adolescent, Adult",Not applicable
363417,Temtamy preaxial brachydactyly syndrome,"Infancy, Neonatal",Autosomal recessive
363409,Fetal akinesia-cerebral and retinal hemorrhage syndrome,"Infancy, Neonatal",Autosomal recessive
363412,Hypomyelination with brain stem and spinal cord involvement and leg spasticity,"Adolescent, Infancy, Neonatal",Autosomal recessive
363429,Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome,"Infancy, Neonatal",Autosomal recessive
363432,Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency,"Infancy, Neonatal",Autosomal recessive
363424,Multiple mitochondrial dysfunctions syndrome type 3,"Infancy, Neonatal",Autosomal recessive
363396,High myopia-sensorineural deafness syndrome,"Infancy, Neonatal",Autosomal recessive
363400,Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome,"Infancy, Neonatal",Autosomal recessive
363618,LMNA-related cardiocutaneous progeria syndrome,Childhood,Autosomal dominant
363623,GMPPB-related limb-girdle muscular dystrophy R19,"Childhood, Infancy, Neonatal",Autosomal recessive
363649,Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome,Childhood,Autosomal dominant
363654,X-linked parkinsonism-spasticity syndrome,"Adolescent, Adult",X-linked recessive
363659,20q11.2 microduplication syndrome,"Infancy, Neonatal",
363665,Acroosteolysis-keloid-like lesions-premature aging syndrome,"Infancy, Neonatal",Autosomal dominant
363540,Leukoencephalopathy with mild cerebellar ataxia and white matter edema,All ages,Autosomal recessive
363549,Acute encephalopathy with biphasic seizures and late reduced diffusion,"Infancy, Neonatal",
363558,New-onset refractory status epilepticus,Adult,
363567,Acute encephalopathy with inflammation-mediated status epilepticus,All ages,
363611,CTCF-related neurodevelopmental disorder,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
363494,Non-seminomatous germ cell tumor of testis,Adult,Not applicable
363523,Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
363534,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","Infancy, Neonatal",Autosomal recessive
363528,Intellectual disability-strabismus syndrome,"Infancy, Neonatal",Autosomal recessive
363444,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
363454,BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
363447,Autosomal dominant childhood-onset proximal spinal muscular atrophy,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
363478,Paratesticular adenocarcinoma,Adult,
363489,Sex cord-stromal tumor of testis,"Adolescent, Adult",
363483,Testicular teratoma,"Adolescent, Adult, Childhood, Infancy",
357175,Short ulna-dysmorphism-hypotonia-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
357329,Combined immunodeficiency due to IL21R deficiency,"Infancy, Neonatal",Autosomal recessive
357332,Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,"Infancy, Neonatal",Autosomal recessive
357220,Primary essential cutis verticis gyrata,"Adolescent, Adult",
357225,Primary non-essential cutis verticis gyrata,"Adolescent, Childhood, Infancy, Neonatal",
357237,Combined immunodeficiency due to CARD11 deficiency,"Infancy, Neonatal",Autosomal recessive
357502,Idiopathic nephrotic syndrome,All ages,
356978,"D,L-2-hydroxyglutaric aciduria","Infancy, Neonatal",Autosomal recessive
356961,SLC35A2-CDG,"Infancy, Neonatal",Unknown
357008,Hemolytic uremic syndrome with DGKE deficiency,Infancy,"Autosomal recessive, Not applicable"
357001,19p13.13 microdeletion syndrome,"Infancy, Neonatal",Unknown
356996,ANK3-related intellectual disability-sleep disturbance syndrome,Childhood,Autosomal recessive
357043,Amyotrophic lateral sclerosis type 4,"Adolescent, Childhood",Autosomal dominant
357034,Non-hereditary retinoblastoma,"Infancy, Neonatal",Not applicable
357027,Hereditary retinoblastoma,"Infancy, Neonatal",Autosomal dominant
357074,"Autosomal recessive cutis laxa type 2, classic type","Infancy, Neonatal",Autosomal recessive
357064,Autosomal recessive cutis laxa type 2B,"Infancy, Neonatal",Autosomal recessive
357058,Autosomal recessive cutis laxa type 2A,Neonatal,Autosomal recessive
357158,Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,"Infancy, Neonatal",
357154,Oral submucous fibrosis,All ages,
352654,Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,Childhood,Autosomal recessive
352662,Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,All ages,Autosomal dominant
352657,Hereditary benign intraepithelial dyskeratosis,"Infancy, Neonatal",Autosomal dominant
352641,Autosomal recessive cerebellar ataxia with late-onset spasticity,"Adolescent, Childhood",Autosomal recessive
352636,Phalangeal microgeodic syndrome,Childhood,Not applicable
352649,Brain dopamine-serotonin vesicular transport disease,"Infancy, Neonatal",Autosomal recessive
352596,Progressive myoclonic epilepsy with dystonia,"Infancy, Neonatal",Autosomal recessive
352629,16q24.1 microdeletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
352577,Bainbridge-Ropers syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
352587,Focal epilepsy-intellectual disability-cerebro-cerebellar malformation,Infancy,Autosomal recessive
352582,Familial infantile myoclonic epilepsy,"Infancy, Neonatal",Autosomal recessive
352731,Oculocutaneous albinism type 1,"Infancy, Neonatal",Autosomal recessive
352734,Minimal pigment oculocutaneous albinism type 1,"Infancy, Neonatal",Autosomal recessive
352737,Temperature-sensitive oculocutaneous albinism type 1,"Infancy, Neonatal",Autosomal recessive
352709,CLN13 disease,"Adolescent, Adult, Childhood, Elderly",
352712,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,"Infancy, Neonatal",Autosomal recessive
352718,Progressive retinal dystrophy due to retinol transport defect,Childhood,Autosomal recessive
352723,Attenuated Chédiak-Higashi syndrome,Childhood,Autosomal recessive
352665,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion,"Infancy, Neonatal","Not applicable, Unknown"
352670,Autosomal dominant intermediate Charcot-Marie-Tooth disease type F,All ages,Autosomal dominant
352675,X-linked Charcot-Marie-Tooth disease type 6,Childhood,X-linked dominant
352682,Cobblestone lissencephaly without muscular or ocular involvement,"Childhood, Infancy",Autosomal recessive
353277,Rubinstein-Taybi syndrome due to CREBBP mutations,"Antenatal, Neonatal",Autosomal dominant
353253,Burning mouth syndrome,Adult,
353220,Familial primary localized cutaneous amyloidosis,All ages,Autosomal dominant
353217,Epileptic encephalopathy with global cerebral demyelination,Neonatal,Autosomal recessive
352763,Scleredema,"Adolescent, Adult, Childhood, Infancy",Not applicable
352745,Oculocutaneous albinism type 7,Neonatal,Autosomal recessive
353344,Idiopathic macular telangiectasia type 1,Adult,
353351,Idiopathic macular telangiectasia type 3,Adult,
353334,Congenital retinal arteriovenous communication,"Infancy, Neonatal",
353320,"Pyruvate carboxylase deficiency, benign type",Infancy,Autosomal recessive
353327,Congenital myasthenic syndrome with glycosylation defect,"Infancy, Neonatal",Autosomal recessive
353308,"Pyruvate carboxylase deficiency, infantile type",Infancy,Autosomal recessive
353314,"Pyruvate carboxylase deficiency, severe neonatal type","Infancy, Neonatal",Autosomal recessive
353298,Roifman syndrome,"Antenatal, Neonatal",Autosomal recessive
353281,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,"Antenatal, Neonatal",Not applicable
353284,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,Neonatal,Autosomal dominant
352403,Spectrin-associated autosomal recessive cerebellar ataxia,Infancy,Autosomal recessive
352333,Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,"Infancy, Neonatal",Autosomal recessive
352328,MEGDEL syndrome,"Infancy, Neonatal",Autosomal recessive
352447,Progressive external ophthalmoplegia-myopathy-emaciation syndrome,All ages,Autosomal recessive
352530,Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
352563,Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,"Infancy, Neonatal",Autosomal recessive
352540,Oncogenic osteomalacia,All ages,Not applicable
352479,ISPD-related limb-girdle muscular dystrophy R20,"Childhood, Infancy",Autosomal recessive
352470,DNA2-related mitochondrial DNA deletion syndrome,All ages,Autosomal dominant
352490,Autism spectrum disorder due to AUTS2 deficiency,"Infancy, Neonatal",Autosomal dominant
294415,Renal-hepatic-pancreatic dysplasia,"Antenatal, Neonatal",Autosomal recessive
294422,Chronic intestinal failure,All ages,Not applicable
293987,Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,"Childhood, Infancy",Unknown
294016,Microcephaly-capillary malformation syndrome,"Infancy, Neonatal",Autosomal recessive
294023,Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome,"Infancy, Neonatal",Autosomal recessive
294026,Syndactyly-nystagmus syndrome due to 2q31.1 microduplication,Neonatal,Unknown
293964,Hypoinsulinemic hypoglycemia and body hemihypertrophy,"Infancy, Neonatal",Autosomal dominant
293967,Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
293978,Deficiency in anterior pituitary function-variable immunodeficiency syndrome,Childhood,Autosomal dominant
293958,Hypertelorism-preauricular sinus-punctual pits-deafness syndrome,"Infancy, Neonatal",Autosomal dominant
293955,Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,"Infancy, Neonatal",Autosomal recessive
293948,1p21.3 microdeletion syndrome,No data available,Unknown
293939,Distal Xq28 microduplication syndrome,"Infancy, Neonatal",X-linked recessive
293936,EDICT syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
293925,Lethal occipital encephalocele-skeletal dysplasia syndrome,"Infancy, Neonatal",Autosomal recessive
293910,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant",,Autosomal dominant
293899,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant",,Autosomal dominant
293888,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant",,Autosomal dominant
293864,Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome,"Infancy, Neonatal",Autosomal recessive
293843,3MC syndrome,"Antenatal, Neonatal",Autosomal recessive
293830,Constitutional dyserythropoietic anemia,"Infancy, Neonatal",
293822,MITF-related melanoma and renal cell carcinoma predisposition syndrome,"Adult, Elderly",
293825,Congenital dyserythropoietic anemia type IV,"Infancy, Neonatal",Autosomal dominant
293812,Fixed drug eruption,All ages,Not applicable
293815,Toxic dermatosis,All ages,Not applicable
293807,Ketamine-induced biliary dilatation,All ages,Not applicable
293725,"Blepharophimosis-intellectual disability syndrome, Verloes type","Antenatal, Infancy, Neonatal",Unknown
293642,Blepharophimosis-intellectual disability syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive"
293707,"Blepharophimosis-intellectual disability syndrome, MKB type","Infancy, Neonatal",X-linked recessive
293633,PYCR1-related De Barsy syndrome,,Autosomal recessive
295044,Macrodactyly of fingers,"Infancy, Neonatal",
295047,Macrodactyly of toes,"Infancy, Neonatal",
295036,Congenital patella dislocation,"Infancy, Neonatal",
295000,Amniotic band syndrome,"Antenatal, Neonatal",
294975,Isolated absence of upper arm and forearm with hand present,"Infancy, Neonatal",
294963,Popliteal pterygium syndrome,"Antenatal, Neonatal",Autosomal dominant
294971,Isolated tetra-amelia,Antenatal,
289891,Hypermethioninemia due to glycine N-methyltransferase deficiency,,Autosomal recessive
289863,Atypical glycine encephalopathy,All ages,Unknown
289877,Transient hyperammonemia of the newborn,Neonatal,
289916,Vitamin B12-unresponsive methylmalonic acidemia type mut0,"Infancy, Neonatal",Autosomal recessive
289661,Epstein-Barr virus-positive diffuse large B-cell lymphoma,"Adult, Elderly",Not applicable
289857,Neonatal glycine encephalopathy,"Infancy, Neonatal",Autosomal recessive
289860,Infantile glycine encephalopathy,"Infancy, Neonatal",Autosomal recessive
289846,Glutathione synthetase deficiency with 5-oxoprolinuria,,Autosomal recessive
289849,Glutathione synthetase deficiency without 5-oxoprolinuria,,Autosomal recessive
289573,Multiple mitochondrial dysfunctions syndrome,,Autosomal recessive
289560,Mitochondrial membrane protein-associated neurodegeneration,"Adolescent, Adult, Childhood",Autosomal recessive
289553,Dysmorphism-conductive hearing loss-heart defect syndrome,"Infancy, Neonatal",Autosomal dominant
289548,Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,"Infancy, Neonatal",Autosomal recessive
289539,BAP1-related tumor predisposition syndrome,Adult,Autosomal dominant
289601,Hereditary arterial and articular multiple calcification syndrome,Adult,Autosomal recessive
289596,Juvenile nasopharyngeal angiofibroma,"Adolescent, Childhood",Not applicable
289586,Exfoliative ichthyosis,"Infancy, Neonatal",Autosomal recessive
293355,Methylmalonic acidemia without homocystinuria,All ages,"Autosomal dominant, Autosomal recessive, X-linked dominant"
293375,Grayson-Wilbrandt corneal dystrophy,"Adolescent, Adult, Childhood",Autosomal dominant
293381,Epithelial recurrent erosion dystrophy,Childhood,Autosomal dominant
293462,Pre-Descemet corneal dystrophy,Adult,Unknown
293603,Congenital hereditary endothelial dystrophy type II,"Infancy, Neonatal",Autosomal recessive
293621,X-linked endothelial corneal dystrophy,"Infancy, Neonatal",X-linked recessive
811,Shwachman-Diamond syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
293150,Familial clubfoot due to PITX1 point mutation,,Autosomal dominant
741,Familial mitral valve prolapse,,Autosomal dominant
293144,Familial clubfoot due to 5q31 microdeletion,,Not applicable
293168,Infantile-onset ascending hereditary spastic paralysis,"Infancy, Neonatal",Autosomal recessive
293165,Skin fragility-woolly hair-palmoplantar keratoderma syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
428,Autosomal dominant hypocalcemia,All ages,Autosomal dominant
293181,Epilepsy of infancy with migrating focal seizures,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
2298,Insulin-resistance syndrome type B,"Adolescent, Adult, Childhood, Elderly",Not applicable
293173,Acute generalized exanthematous pustulosis,All ages,"Multigenic/multifactorial, Not applicable"
2207,Familial primary hyperparathyroidism,Childhood,Autosomal dominant
293199,Pleomorphic rhabdomyosarcoma,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
393,"46,XX testicular difference of sex development","Adolescent, Antenatal, Neonatal",Autosomal dominant
293202,Epithelioid sarcoma,"Adolescent, Adult, Childhood",Not applicable
293284,Tetrahydrobiopterin-responsive phenylketonuria,"Infancy, Neonatal",Autosomal recessive
293208,Celiac artery compression syndrome,"Adolescent, Adult, Childhood, Elderly",Not applicable
2459,Mansonelliasis,All ages,Not applicable
2404,Loiasis,All ages,Not applicable
2394,Pyruvate dehydrogenase E3 deficiency,Childhood,Autosomal recessive
2356,Arachnoid cyst,Childhood,"Autosomal recessive, Not applicable"
829,Adult-onset Still disease,"Adult, Elderly",Not applicable
3096,Reye syndrome,"Adolescent, Adult, Childhood, Infancy",
1929,Rasmussen subacute encephalitis,Childhood,Not applicable
1183,Opsoclonus-myoclonus syndrome,"Childhood, Infancy",Not applicable
2688,Adult idiopathic neutropenia,Adult,Not applicable
2686,Cyclic neutropenia,All ages,Autosomal dominant
890,Hepatic veno-occlusive disease,All ages,Not applicable
176,Non-rhizomelic chondrodysplasia punctata,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive"
231,Dracunculiasis,All ages,
2035,Lymphatic filariasis,All ages,Not applicable
284448,CLIPPERS,Adult,Not applicable
284454,Acute zonal occult outer retinopathy,"Adolescent, Adult",Not applicable
284460,Acute annular outer retinopathy,Adult,Not applicable
284414,"Glycerol kinase deficiency, adult form",Adult,X-linked recessive
284417,"Phosphoserine aminotransferase deficiency, infantile/juvenile form","Infancy, Neonatal",Autosomal dominant
284426,Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,Childhood,Autosomal recessive
284435,Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,Adult,"Autosomal dominant, Autosomal recessive"
284973,Marfan syndrome type 2,All ages,Autosomal dominant
284963,Marfan syndrome type 1,All ages,Autosomal dominant
284984,Aneurysm-osteoarthritis syndrome,All ages,Autosomal dominant
284979,Neonatal Marfan syndrome,"Infancy, Neonatal",Autosomal dominant
289365,Familial vesicoureteral reflux,All ages,Autosomal dominant
289347,Infective dermatitis associated with HTLV-1,Childhood,Not applicable
289356,Primary non-gestational choriocarcinoma of ovary,Adolescent,Unknown
289377,Early-onset myopathy with fatal cardiomyopathy,"Infancy, Neonatal",Autosomal recessive
289380,Myosclerosis,Childhood,Autosomal recessive
289290,Hypermethioninemia encephalopathy due to adenosine kinase deficiency,Childhood,Autosomal recessive
289266,Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,Childhood,Autosomal dominant
289326,Tropical spastic paraparesis,Adult,Not applicable
289307,Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
289504,Combined malonic and methylmalonic acidemia,All ages,"Autosomal dominant, Autosomal recessive"
289499,Congenital cataract microcornea with corneal opacity,"Infancy, Neonatal",Autosomal recessive
289494,4H leukodystrophy,"Adolescent, Adult, Childhood, Infancy",
289522,Microtriplication 11q24.1 syndrome,Childhood,
289513,12q15q21 microdeletion syndrome,"Infancy, Neonatal",Autosomal dominant
289465,Isolated congenital adermatoglyphia,"Infancy, Neonatal",Autosomal dominant
289390,Primary Sjögren disease,Adult,Not applicable
289385,Malignancy diagnosed during pregnancy,Adult,
289483,Intellectual disability-alacrima-achalasia syndrome,"Infancy, Neonatal",X-linked recessive
289478,PASH syndrome,Adult,No data available
289176,Autosomal recessive hypophosphatemic rickets,"Childhood, Infancy",Autosomal recessive
289157,Hypocalcemic vitamin D-dependent rickets,"Infancy, Neonatal",Autosomal recessive
280926,Systemic diseases with anterior uveitis,"Adolescent, Adult, Childhood, Elderly",
280921,Idiopathic panuveitis,"Adolescent, Adult, Childhood, Elderly",Not applicable
280898,Panuveitis,All ages,Not applicable
280892,Posterior uveitis,All ages,Not applicable
280886,Anterior uveitis,All ages,Not applicable
281097,Autosomal recessive congenital ichthyosis,"Infancy, Neonatal",Autosomal recessive
281090,Syndromic recessive X-linked ichthyosis,Childhood,X-linked recessive
281210,X-linked ichthyosis syndrome,,"Not applicable, X-linked dominant, X-linked recessive"
281190,Congenital reticular ichthyosiform erythroderma,Neonatal,Autosomal dominant
281201,Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,"Infancy, Neonatal",Autosomal recessive
281139,Annular epidermolytic ichthyosis,"Infancy, Neonatal",Autosomal dominant
281122,Self-improving collodion baby,Neonatal,Autosomal recessive
281127,Acral self-healing collodion baby,"Infancy, Neonatal","Autosomal recessive, Unknown"
280628,Familial progressive hyper- and hypopigmentation,"Infancy, Neonatal",Autosomal dominant
280633,Multiple congenital anomalies-hypotonia-seizures syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
280615,Low oxygen affinity gamma chain hemoglobin disease,"Infancy, Neonatal",Autosomal dominant
280598,Hereditary sensorimotor neuropathy with hyperelastic skin,All ages,Autosomal dominant
280620,Progressive myoclonic epilepsy type 6,Childhood,Autosomal recessive
280671,Megaconial congenital muscular dystrophy,"Infancy, Neonatal",Autosomal recessive
280640,Occipital pachygyria and polymicrogyria,"Infancy, Neonatal",Autosomal recessive
280654,Autosomal recessive nail dysplasia,"Childhood, Infancy",Autosomal recessive
280779,Cutaneous collagenous vasculopathy,Adult,Not applicable
280785,Bullous diffuse cutaneous mastocytosis,"Infancy, Neonatal",Not applicable
280794,Pseudoxanthomatous diffuse cutaneous mastocytosis,"Infancy, Neonatal",Not applicable
280679,Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,All ages,X-linked recessive
280763,Severe intellectual disability and progressive spastic paraplegia,"Infancy, Neonatal",Autosomal recessive
280774,Generalized essential telangiectasia,"Adolescent, Adult",Not applicable
280840,Congenital pulmonary airway malformation type 2,"Antenatal, Neonatal",
280847,Congenital pulmonary airway malformation type 3,"Antenatal, Neonatal",
280854,Congenital pulmonary airway malformation type 4,"Antenatal, Neonatal",
280827,Congenital pulmonary airway malformation type 0,"Antenatal, Neonatal",
280832,Congenital pulmonary airway malformation type 1,"Antenatal, Neonatal",
284149,Craniosynostosis-dental anomalies,"Infancy, Neonatal",Autosomal recessive
284139,"Larsen-like syndrome, B3GAT3 type","Infancy, Neonatal",Autosomal recessive
284180,Xp22.13p22.2 duplication syndrome,"Infancy, Neonatal",X-linked recessive
284169,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,Infancy,"Not applicable, Unknown"
284160,8q21.11 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
284247,Familial retinal arterial macroaneurysm,Childhood,Autosomal recessive
284232,Autosomal dominant Charcot-Marie-Tooth disease type 2O,Childhood,Autosomal dominant
284227,TEMPI syndrome,Adult,
284271,Autosomal recessive cerebellar ataxia-psychomotor delay syndrome,Childhood,Autosomal recessive
284264,IgG4-related disease,Adult,Not applicable
284324,Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia,Childhood,Autosomal recessive
284282,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency,"Infancy, Neonatal",Autosomal recessive
284289,Adult-onset autosomal recessive cerebellar ataxia,Adult,Autosomal recessive
284343,DICER1 tumor-predisposition syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
284332,Infantile-onset autosomal recessive nonprogressive cerebellar ataxia,"Infancy, Neonatal",Autosomal recessive
284339,Pontocerebellar hypoplasia type 7,"Infancy, Neonatal",Autosomal recessive
284388,Reversible cerebral vasoconstriction syndrome,Adult,Not applicable
284362,Fetal lung interstitial tumor,"Infancy, Neonatal",
284411,"Glycerol kinase deficiency, juvenile form","Adolescent, Childhood",X-linked recessive
284395,Well-differentiated fetal adenocarcinoma of the lung,All ages,Not applicable
284400,Small cell carcinoma of the bladder,Adult,Not applicable
282166,Inherited Creutzfeldt-Jakob disease,"Adult, Elderly",Autosomal dominant
309854,Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome,Childhood,Autosomal recessive
309803,Rhizomelic chondrodysplasia punctata type 3,,Autosomal recessive
309789,Rhizomelic chondrodysplasia punctata type 1,,Autosomal recessive
309796,Rhizomelic chondrodysplasia punctata type 2,,Autosomal recessive
314029,High bone mass osteogenesis imperfecta,Childhood,Autosomal dominant
314022,Gastric adenocarcinoma and proximal polyposis of the stomach,Adult,Autosomal dominant
314017,Idiopathic linear interstitial keratitis,Adult,Unknown
314002,Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome,"Infancy, Neonatal",No data available
313947,2q23.1 microduplication syndrome,"Infancy, Neonatal","Not applicable, Unknown"
313936,PENS syndrome,"Infancy, Neonatal",Not applicable
313920,Epstein-Barr virus-associated gastric carcinoma,"Adult, Elderly",Multigenic/multifactorial
313906,Congenital pancreatic cyst,"Infancy, Neonatal",Unknown
313892,Developmental and speech delay due to SOX5 deficiency,"Infancy, Neonatal","Autosomal dominant, Not applicable"
313884,12p12.1 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
313855,FGFR2-related bent bone dysplasia,"Antenatal, Neonatal",Autosomal dominant
313850,Infantile cerebellar-retinal degeneration,"Infancy, Neonatal",Autosomal recessive
313846,Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome,"Infancy, Neonatal",Autosomal dominant
313838,Coats plus syndrome,Childhood,Autosomal recessive
313800,Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome,Childhood,Autosomal dominant
313808,Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,Adult,Autosomal dominant
313781,20p13 microdeletion syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
313795,Jawad syndrome,"Infancy, Neonatal",Autosomal recessive
313772,Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome,Childhood,Autosomal recessive
314603,Autosomal recessive spastic ataxia with leukoencephalopathy,"Adolescent, Adult, Childhood",Autosomal recessive
314597,Chudley-McCullough syndrome,"Infancy, Neonatal",Autosomal recessive
314613,Growing teratoma syndrome,Adult,Not applicable
314575,Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,"Infancy, Neonatal",Autosomal recessive
314572,Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,"Infancy, Neonatal",Autosomal recessive
314588,Distal triplication 15q syndrome,"Infancy, Neonatal","Not applicable, Unknown"
314585,15q overgrowth syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
314485,Young adult-onset distal hereditary motor neuropathy,Adult,Autosomal recessive
314566,Primary progressive apraxia of speech,Adult,Unknown
314555,Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome,"Infancy, Neonatal",Autosomal recessive
314466,Atypical Meigs syndrome,Adult,Not applicable
314459,Pseudo-Meigs syndrome,Adult,Not applicable
314478,Ovarian fibrothecoma,Adult,Not applicable
314473,Ovarian fibroma,Adult,Not applicable
314422,Ameloblastic carcinoma,All ages,Not applicable
314432,Spigelian hernia-cryptorchidism syndrome,"Infancy, Neonatal",Not applicable
314451,Meigs syndrome,Adult,Not applicable
314394,Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,"Infancy, Neonatal",Autosomal recessive
314399,Autosomal dominant aplasia and myelodysplasia,Childhood,Autosomal dominant
314404,Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome,Adult,"Autosomal dominant, Not applicable"
314419,Ameloblastoma,All ages,Not applicable
314373,Chronic infantile diarrhea due to guanylate cyclase 2C overactivity,"Infancy, Neonatal",Autosomal dominant
314376,Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,Neonatal,Autosomal recessive
314381,Hereditary sensory and autonomic neuropathy type 6,"Infancy, Neonatal",Autosomal recessive
314389,Xq12-q13.3 duplication syndrome,"Infancy, Neonatal",X-linked recessive
314034,7p22.1 microduplication syndrome,"Infancy, Neonatal",Autosomal recessive
314041,Marfanoid habitus-inguinal hernia-advanced bone age syndrome,"Antenatal, Infancy, Neonatal",
314051,Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,"Infancy, Neonatal",No data available
306682,Manganese poisoning,All ages,
306674,Kufor-Rakeb syndrome,"Adolescent, Childhood",Autosomal recessive
306669,Hemiparkinsonism-hemiatrophy syndrome,"Adolescent, Adult",
306692,Cyanide-induced parkinsonism-dystonia,All ages,
306686,Delayed encephalopathy due to carbon monoxide poisoning,All ages,
306741,Hemidystonia-hemiatrophy syndrome,"Adolescent, Adult, Childhood, Infancy, Neonatal",Not applicable
306734,"Primary dystonia, DYT21 type",Adult,Autosomal dominant
306731,Sydenham chorea,"Adolescent, Adult, Childhood",
308166,Erythrokeratoderma variabilis progressiva,"Childhood, Infancy, Neonatal",
308380,Methylcobalamin deficiency type cblDv1,,Autosomal recessive
308386,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A,,Autosomal recessive
308393,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B,,Autosomal recessive
308400,Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,,Autosomal recessive
308410,Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency,Childhood,Autosomal recessive
308425,Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,"Childhood, Infancy",Autosomal recessive
307766,Curly hair-acral keratoderma-caries syndrome,"Adolescent, Childhood",
307804,Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature,,Autosomal recessive
307773,Autosomal dominant diffuse mutilating palmoplantar keratoderma,,Autosomal dominant
307936,Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,"Infancy, Neonatal",
307995,Marginal papular palmoplantar keratoderma,,Autosomal dominant
308041,Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature,,Autosomal recessive
308031,Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature,,Autosomal dominant
308698,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form",,Autosomal recessive
308712,"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form",,Autosomal recessive
308670,"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form",,Autosomal recessive
308684,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form",,Autosomal recessive
309111,Combined pancreatic lipase-colipase deficiency,Neonatal,
309031,Pancreatic triacylglycerol lipase deficiency,Infancy,Not applicable
309108,Pancreatic colipase deficiency,Infancy,Autosomal recessive
309025,Mevalonate kinase deficiency,Infancy,Not applicable
309015,Familial lipoprotein lipase deficiency,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
309020,Familial apolipoprotein C-II deficiency,"Adolescent, Childhood",Autosomal recessive
308487,Generalized galactose epimerase deficiency,,Autosomal recessive
178,Chordoma,Adult,"Autosomal dominant, Not applicable"
308473,Erythrocyte galactose epimerase deficiency,,Autosomal recessive
2637,Microcephalic osteodysplastic primordial dwarfism type II,"Antenatal, Infancy, Neonatal",Autosomal recessive
592,Macrophagic myofasciitis,"Adolescent, Adult, Childhood, Elderly",Not applicable
308442,"Vitamin B12-responsive methylmalonic acidemia, type cblDv2",,Autosomal recessive
308655,"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form",,Autosomal recessive
308638,"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form",,Autosomal recessive
308621,"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form",,Autosomal recessive
308552,"Glycogen storage disease due to acid maltase deficiency, infantile onset","Antenatal, Infancy, Neonatal",Autosomal recessive
309271,"Metachromatic leukodystrophy, adult form",Adult,Autosomal recessive
309282,"Alpha-mannosidosis, infantile form",Infancy,Autosomal recessive
309288,"Alpha-mannosidosis, adult form",Adult,Autosomal recessive
309246,"GM2 gangliosidosis, AB variant",Infancy,Autosomal recessive
309252,Atypical Gaucher disease due to saposin C deficiency,,Autosomal recessive
309256,"Metachromatic leukodystrophy, late infantile form",Infancy,Autosomal recessive
309263,"Metachromatic leukodystrophy, juvenile form","Adolescent, Childhood",Autosomal recessive
309324,"Free sialic acid storage disease, infantile form","Antenatal, Neonatal",Autosomal recessive
309331,Intermediate severe Salla disease,,Autosomal recessive
309334,Salla disease,Infancy,Autosomal recessive
309294,Sialidosis,All ages,Autosomal recessive
309297,Mucopolysaccharidosis type 4A,Childhood,Autosomal recessive
309310,Mucopolysaccharidosis type 4B,,Autosomal recessive
309147,Hyper-beta-alaninemia,Neonatal,
309185,"Tay-Sachs disease, juvenile form",,Autosomal recessive
309178,"Tay-Sachs disease, infantile form",,Autosomal recessive
309192,"Tay-Sachs disease, adult form",,Autosomal recessive
309155,"Sandhoff disease, infantile form",Infancy,Autosomal recessive
309169,"Sandhoff disease, adult form",Adult,Autosomal recessive
309162,"Sandhoff disease, juvenile form","Adolescent, Childhood",Autosomal recessive
300547,Autosomal recessive infantile hypercalcemia,"Infancy, Neonatal",Autosomal recessive
300552,Follicular cholangitis and pancreatitis,Adult,Unknown
300557,Carcinoma of the ampulla of Vater,Adult,Not applicable
300564,Combined pulmonary fibrosis-emphysema syndrome,Adult,Not applicable
300570,Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation,"Infancy, Neonatal",Autosomal dominant
300573,Polymicrogyria due to TUBB2B mutation,"Infancy, Neonatal",Autosomal dominant
300579,Staphylococcal toxemia,All ages,
300496,Multiple congenital anomalies-hypotonia-seizures syndrome type 2,"Antenatal, Infancy, Neonatal",X-linked recessive
300501,Painful orbital and systemic neurofibromas-marfanoid habitus syndrome,Adolescent,Unknown
300504,Onychocytic matricoma,"Adolescent, Adult, Childhood, Elderly",
300512,Onychomatricoma,All ages,Unknown
300525,Pseudohypoaldosteronism type 2D,,"Autosomal dominant, Autosomal recessive"
300530,Pseudohypoaldosteronism type 2E,,Autosomal dominant
300536,DDOST-CDG,"Infancy, Neonatal",Autosomal recessive
300849,Diffuse large B-cell lymphoma of the central nervous system,,"Multigenic/multifactorial, Not applicable"
300846,Aggressive B-cell non-Hodgkin lymphoma,Adult,
300865,Primary cutaneous anaplastic large cell lymphoma,"Adolescent, Adult, Childhood",
300857,T-cell/histiocyte rich large B cell lymphoma,"Adolescent, Adult, Childhood, Elderly","Multigenic/multifactorial, Not applicable"
300878,Hairy cell leukemia variant,"Adult, Elderly",Unknown
300895,ALK-positive anaplastic large cell lymphoma,"Adolescent, Adult, Childhood",Not applicable
300605,Juvenile amyotrophic lateral sclerosis,Childhood,Autosomal recessive
300751,Familial dilated cardiomyopathy with conduction defect due to LMNA mutation,Adult,Autosomal dominant
300842,Indolent B-cell non-Hodgkin lymphoma,Adult,
300903,ALK-negative anaplastic large cell lymphoma,Adult,Not applicable
300912,Marginal zone lymphoma,Adult,
306431,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,Adult,Not applicable
306550,FADD-related immunodeficiency,"Infancy, Neonatal",Autosomal recessive
306553,Myospherulosis,Adult,Not applicable
306542,Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome,"Antenatal, Neonatal",Autosomal recessive
306547,Porencephaly-microcephaly-bilateral congenital cataract syndrome,"Infancy, Neonatal",Autosomal recessive
306530,Congenital hereditary facial paralysis-variable hearing loss syndrome,"Infancy, Neonatal",Autosomal recessive
306527,Isolated hereditary congenital facial paralysis,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
306516,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis,"Childhood, Infancy",Autosomal recessive
306511,Autosomal recessive spastic paraplegia type 48,Adult,Autosomal recessive
306498,PTEN hamartoma tumor syndrome,All ages,Autosomal dominant
306504,Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome,"Infancy, Neonatal",Autosomal recessive
306661,Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome,,Autosomal recessive
306658,Familial normophosphatemic tumoral calcinosis,Infancy,Autosomal recessive
306644,Complication after organ transplantation,All ages,Not applicable
306617,X-linked complicated spastic paraplegia type 1,"Antenatal, Infancy, Neonatal",X-linked recessive
306577,Hereditary sodium channelopathy-related small fibers neuropathy,No data available,Autosomal dominant
306558,Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome,Neonatal,Autosomal recessive
295195,Synpolydactyly type 1,,Autosomal dominant
295191,Zygodactyly type 3,,Autosomal dominant
295201,"Congenital vertical talus, unilateral",,Autosomal dominant
295203,"Congenital vertical talus, bilateral",,Autosomal dominant
295197,Synpolydactyly type 2,,Autosomal dominant
295239,"Macrodactyly of fingers, unilateral",,Autosomal dominant
295243,"Macrodactyly of toes, unilateral",,Autosomal dominant
298644,Disorder of thiamine metabolism and transport,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
300179,Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency,"Infancy, Neonatal",Autosomal recessive
300319,Charcot-Marie-Tooth disease type 2P,"Adolescent, Adult","Autosomal dominant, Autosomal recessive"
300324,Persistent polyclonal B-cell lymphocytosis,No data available,Multigenic/multifactorial
300313,Congenital cataract-hearing loss-severe developmental delay syndrome,"Infancy, Neonatal",Autosomal recessive
300298,Severe congenital hypochromic anemia with ringed sideroblasts,"Infancy, Neonatal",Unknown
300305,11p15.4 microduplication syndrome,"Infancy, Neonatal",Autosomal dominant
300284,Connective tissue disorder due to lysyl hydroxylase-3 deficiency,"Antenatal, Neonatal",Not applicable
300293,Transient infantile hypertriglyceridemia and hepatosteatosis,"Infancy, Neonatal",Autosomal recessive
300385,Pituitary carcinoma,All ages,Unknown
300493,Sagliker syndrome,All ages,Multigenic/multifactorial
300373,X-linked acrogigantism,"Childhood, Infancy, Neonatal",X-linked dominant
300382,Progeroid and marfanoid aspect-lipodystrophy syndrome,"Infancy, Neonatal",Autosomal dominant
300345,Autosomal systemic lupus erythematosus,Childhood,"Autosomal dominant, Autosomal recessive"
300359,PLCG2-associated antibody deficiency and immune dysregulation,"Infancy, Neonatal",Autosomal dominant
300333,Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome,Adolescent,Autosomal recessive
464724,Fever-associated acute infantile liver failure syndrome,Infancy,Autosomal recessive
464738,Basel-Vanagaite-Smirin-Yosef syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
464760,Familial cavitary optic disc anomaly,"Adolescent, Adult",Autosomal dominant
464756,Familial gastric type 1 neuroendocrine tumor,Adult,Autosomal recessive
465508,Symptomatic form of HFE-related hemochromatosis,Adult,Autosomal recessive
464282,Spastic paraplegia-severe developmental delay-epilepsy syndrome,Infancy,Autosomal recessive
464288,Short stature-brachydactyly-obesity-global developmental delay syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
464306,DYRK1A-related intellectual disability syndrome,Infancy,"Autosomal dominant, Not applicable, Unknown"
464329,Kaposiform lymphangiomatosis,Childhood,Not applicable
464321,Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,"Infancy, Neonatal",Not applicable
464318,Verrucous hemangioma,"Infancy, Neonatal",Not applicable
464311,Intellectual disability syndrome due to a DYRK1A point mutation,"Infancy, Neonatal",Autosomal dominant
464366,NEK9-related lethal skeletal dysplasia,Antenatal,Autosomal recessive
464359,Benign metanephric tumor,All ages,Not applicable
464343,Catastrophic antiphospholipid syndrome,Adult,Not applicable
464336,BENTA disease,Infancy,Autosomal dominant
464453,Acquired methemoglobinemia,All ages,Not applicable
464443,COG6-CGD,Neonatal,Autosomal recessive
464440,"Primary dystonia, DYT27 type","Adult, Childhood",Autosomal recessive
464370,Neonatal alloimmune neutropenia,Neonatal,
464458,Paracetamol poisoning,All ages,Not applicable
662,Lymphedema with yellow nails,"Adult, Childhood, Neonatal",
537,Toxic epidermal necrolysis,All ages,Not applicable
793,SAPHO syndrome,"Adolescent, Adult, Elderly","Multigenic/multifactorial, Not applicable"
456298,1p35.2 microdeletion syndrome,Neonatal,Not applicable
456328,X-linked myotubular myopathy-abnormal genitalia syndrome,"Antenatal, Neonatal",Unknown
456333,Hereditary neuroendocrine tumor of small intestine,,Autosomal dominant
456312,Infantile multisystem neurologic-endocrine-pancreatic disease,Infancy,Autosomal recessive
456318,Hereditary sensory neuropathy-deafness-dementia syndrome,"Adolescent, Adult",Autosomal dominant
454840,NTHL1-related polyposis,"Adult, Elderly",Autosomal recessive
454831,Acute radiation syndrome,All ages,Not applicable
454836,Avian influenza,All ages,Not applicable
454887,Corticobasal syndrome,"Adult, Elderly",
454742,Variably protease-sensitive prionopathy,,Not applicable
454723,Endometrioid carcinoma of ovary,"Adult, Elderly",Not applicable
454718,Holmes-Adie syndrome,Adult,Not applicable
454714,Plasma cell leukemia,"Adult, Elderly",Not applicable
454750,Isolated tracheoesophageal fistula,Neonatal,Not applicable
454745,Kuru,All ages,"Multigenic/multifactorial, Not applicable"
453533,Polyendocrine-polyneuropathy syndrome,Childhood,Autosomal recessive
453521,Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency,"Infancy, Neonatal",Autosomal recessive
454710,Anti-p200 pemphigoid,"Adult, Elderly",Not applicable
454706,Progressive muscular atrophy,Adult,Not applicable
454700,Acquired Creutzfeldt-Jakob disease,All ages,Not applicable
451602,Primary cutaneous plasmacytosis,"Adult, Elderly",Not applicable
451607,Cutaneous pseudolymphoma,"Adult, Elderly",Not applicable
451612,Familial congenital nasolacrimal duct obstruction,"Antenatal, Neonatal",Autosomal recessive
453499,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
453504,Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation,Neonatal,"Autosomal dominant, Not applicable"
453510,Congenital insensitivity to pain with severe intellectual disability,Neonatal,Autosomal recessive
450322,Polyclonal hyperviscosity syndrome,"Adolescent, Adult, All ages, Elderly",Not applicable
449566,Eosinophilic angiocentric fibrosis,Adult,Not applicable
449563,IgG4-related ophthalmic disease,"Adult, Elderly",Not applicable
449400,IgG4-related aortitis,"Adult, Elderly",Not applicable
449395,IgG4-related kidney disease,"Adult, Elderly",Not applicable
449432,IgG4-related submandibular gland disease,"Adult, Elderly",Not applicable
449427,IgG4-related pachymeningitis,"Adult, Elderly",Not applicable
449280,Scedosporiosis,All ages,Not applicable
449285,Snakebite envenomation,All ages,Not applicable
449266,Pleural empyema,All ages,Not applicable
448264,Isolated focal non-epidermolytic palmoplantar keratoderma,Childhood,Autosomal dominant
448251,Progressive autosomal recessive ataxia-deafness syndrome,"Adolescent, Childhood, Infancy",Autosomal recessive
448270,Ectopia cordis,Antenatal,Not applicable
448267,Regressive spondylometaphyseal dysplasia,Neonatal,Autosomal recessive
448010,CAD-CDG,Infancy,Autosomal recessive
447997,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,"Infancy, Neonatal",Autosomal recessive
448242,Autosomal recessive brachyolmia,Childhood,Autosomal recessive
448237,Zika virus disease,All ages,Not applicable
447977,Progressive scapulohumeroperoneal distal myopathy,"Childhood, Infancy",Autosomal dominant
447974,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,Infancy,Autosomal recessive
447980,19p13.3 microduplication syndrome,"Antenatal, Neonatal",Unknown
447954,Combined oxidative phosphorylation defect type 25,Neonatal,Autosomal recessive
447964,Autosomal dominant Charcot-Marie-Tooth disease type 2V,"Adolescent, Adult, Elderly",Autosomal dominant
447961,Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,Infancy,Autosomal recessive
459033,Ataxia-oculomotor apraxia type 4,"Childhood, Infancy",Autosomal recessive
459051,"Spondyloepiphyseal dysplasia, Stanescu type",Childhood,Autosomal dominant
459061,Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,"Antenatal, Neonatal",Autosomal recessive
459056,Autosomal recessive spastic paraplegia type 75,Childhood,Autosomal recessive
459074,Corpus callosum agenesis-macrocephaly-hypertelorism syndrome,"Infancy, Neonatal",Unknown
459070,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,"Infancy, Neonatal",X-linked recessive
458718,Idiopathic spontaneous coronary artery dissection,Adult,Not applicable
458758,Composite hemangioendothelioma,All ages,Not applicable
458763,Retiform hemangioendothelioma,"Adolescent, Adult",Not applicable
458768,Papillary intralymphatic angioendothelioma,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
458785,Partially involuting congenital hemangioma,Antenatal,Not applicable
458792,Mixed cystic lymphatic malformation,"Infancy, Neonatal",Not applicable
458798,Spinocerebellar ataxia type 41,Adult,Autosomal dominant
458803,Spinocerebellar ataxia type 42,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
457485,Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,"Infancy, Neonatal",Autosomal dominant
457265,Progressive myoclonic epilepsy type 9,Childhood,Autosomal recessive
457279,Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,"Infancy, Neonatal",Autosomal dominant
457260,X-linked intellectual disability-hypotonia-movement disorder syndrome,"Adolescent, Childhood",X-linked dominant
457240,X-linked intellectual disability-short stature-overweight syndrome,"Adolescent, Childhood, Infancy",X-linked recessive
457246,Clear cell sarcoma of kidney,"Adolescent, Adult, Childhood, Infancy",Not applicable
457395,Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
457406,Multiple mitochondrial dysfunctions syndrome type 4,Infancy,Autosomal recessive
457375,ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement,"Infancy, Neonatal",Autosomal recessive
457378,Complex lethal osteochondrodysplasia,Antenatal,Autosomal recessive
457359,Megalencephaly-severe kyphoscoliosis-overgrowth syndrome,Neonatal,Autosomal recessive
457365,Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,"Infancy, Neonatal",Unknown
457284,Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal dominant
457351,Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,"Infancy, Neonatal",Autosomal recessive
457185,Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
457083,Isolated splenogonadal fusion,"Antenatal, Neonatal",No data available
457077,TAFRO syndrome,"Adolescent, Adult, Elderly",Not applicable
457095,Actinomycosis,All ages,Not applicable
457088,Predisposition to invasive fungal disease due to CARD9 deficiency,,Autosomal recessive
457223,Syndromic sensorineural deafness due to combined oxidative phosphorylation defect,Neonatal,Autosomal recessive
457212,Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,"Adolescent, Adult",Autosomal recessive
457193,KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome,"Infancy, Neonatal",Autosomal dominant
457205,Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,Infancy,Autosomal recessive
456369,Polyglucosan body myopathy type 2,"Adolescent, Adult, Childhood, Elderly",Autosomal recessive
457059,Pseudohypoparathyroidism with Albright hereditary osteodystrophy,"Childhood, Infancy, Neonatal",
457050,Autosomal dominant mitochondrial myopathy with exercise intolerance,"Childhood, Infancy",Autosomal dominant
317,Erythrokeratodermia variabilis,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
629,Short stature due to growth hormone qualitative anomaly,"Infancy, Neonatal",Autosomal recessive
632,Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,"Infancy, Neonatal",X-linked recessive
248,Autosomal recessive hypohidrotic ectodermal dysplasia,"Infancy, Neonatal",Autosomal recessive
1810,Autosomal dominant hypohidrotic ectodermal dysplasia,"Infancy, Neonatal",Autosomal dominant
3437,Vogt-Koyanagi-Harada disease,All ages,Multigenic/multifactorial
2032,Idiopathic pulmonary fibrosis,Adult,Multigenic/multifactorial
1303,Bronchiolitis obliterans,All ages,Not applicable
3348,Tracheobronchopathia osteochondroplastica,"Adult, Childhood, Elderly",Unknown
2902,Idiopathic chronic eosinophilic pneumonia,All ages,Not applicable
1302,Cryptogenic organizing pneumonia,"Adolescent, Adult, Childhood, Elderly",Not applicable
198,Occipital horn syndrome,"Childhood, Infancy, Neonatal",X-linked recessive
891,Familial exudative vitreoretinopathy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
466677,Scorpion envenomation,All ages,Not applicable
466682,Euthyroid Graves orbitopathy,,Not applicable
466688,Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,Neonatal,Autosomal recessive
466695,Supratip dysplasia,Neonatal,Not applicable
466670,Cyanide poisoning,All ages,Not applicable
466650,Exercise-induced malignant hyperthermia,All ages,Multigenic/multifactorial
466962,SMARCA4-deficient sarcoma of thorax,Adult,Not applicable
466950,Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,"Childhood, Infancy","Autosomal dominant, Not applicable"
466943,WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,"Childhood, Infancy","Autosomal dominant, Not applicable, Unknown"
466926,Seizures-scoliosis-macrocephaly syndrome,Infancy,Autosomal recessive
466934,VPS11-related autosomal recessive hypomyelinating leukodystrophy,Infancy,Autosomal recessive
466921,Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,Childhood,Autosomal recessive
466806,Autosomal dominant thrombocytopenia with platelet secretion defect,Childhood,Autosomal dominant
466794,Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,Infancy,Autosomal recessive
466791,Macrocephaly-intellectual disability-left ventricular non compaction syndrome,Infancy,X-linked recessive
466784,Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect,"Infancy, Neonatal",Autosomal recessive
466775,Autosomal recessive Charcot-Marie-Tooth disease type 2X,"Adolescent, Adult, Childhood",Autosomal recessive
466768,Autosomal dominant Charcot-Marie-Tooth disease type 2Z,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
466729,Familial patent arterial duct,,Autosomal dominant
466722,Autosomal recessive spastic paraplegia type 77,"Childhood, Infancy",Autosomal recessive
466718,Martinique crinkled retinal pigment epitheliopathy,Adult,Autosomal dominant
466703,TMEM199-CDG,"Adolescent, Childhood, Infancy",Autosomal recessive
465824,Fetal encasement syndrome,Antenatal,Autosomal recessive
466026,Class I glucose-6-phosphate dehydrogenase deficiency,Neonatal,X-linked recessive
468620,Intellectual disability-epilepsy-extrapyramidal syndrome,Infancy,Autosomal recessive
468631,Microcephalic cortical malformations-short stature due to RTTN deficiency,"Infancy, Neonatal",Autosomal recessive
467166,Tubulinopathy-associated dysgyria,Infancy,"Autosomal dominant, Not applicable"
467176,Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,Neonatal,Autosomal recessive
468635,Cryptogenic multifocal ulcerous stenosing enteritis,"Adolescent, Adult, Childhood",Autosomal recessive
468641,Chronic enteropathy associated with SLCO2A1 gene,"Adolescent, Adult, Childhood",Autosomal recessive
468661,Autosomal recessive spastic paraplegia type 74,Childhood,Autosomal recessive
468666,Isolated generalized anhidrosis with normal sweat glands,Neonatal,Autosomal recessive
468678,White-Sutton syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
468684,CCDC115-CDG,"Infancy, Neonatal",Autosomal recessive
468672,Colobomatous macrophthalmia-microcornea syndrome,"Adolescent, Childhood, Elderly, Infancy",Autosomal dominant
468726,Severe primary trimethylaminuria,"Childhood, Infancy",Autosomal recessive
468699,SLC39A8-CDG,Neonatal,Autosomal recessive
468717,Rhizomelic chondrodysplasia punctata type 5,"Infancy, Neonatal",Autosomal recessive
401785,Autosomal recessive spastic paraplegia type 62,"Childhood, Infancy",Autosomal recessive
401780,Autosomal recessive spastic paraplegia type 61,Infancy,Autosomal recessive
401800,Autosomal recessive spastic paraplegia type 60,Infancy,Autosomal recessive
401795,Autosomal recessive spastic paraplegia type 59,Infancy,Autosomal recessive
401768,Proximal myopathy with extrapyramidal signs,"Childhood, Infancy",Autosomal recessive
401764,Pancytopenia-developmental delay syndrome,Adolescent,Autosomal recessive
401777,Optic atrophy-intellectual disability syndrome,Neonatal,Autosomal dominant
401830,Autosomal recessive spastic paraplegia type 69,Infancy,Autosomal recessive
401835,Autosomal recessive spastic paraplegia type 70,Infancy,Autosomal recessive
401840,Autosomal recessive spastic paraplegia type 71,Infancy,Autosomal recessive
401805,Autosomal recessive spastic paraplegia type 63,Infancy,Autosomal recessive
401810,Autosomal recessive spastic paraplegia type 64,"Childhood, Infancy",Autosomal recessive
401815,Autosomal recessive spastic paraplegia type 66,Infancy,Autosomal recessive
401820,Autosomal recessive spastic paraplegia type 67,"Childhood, Infancy",Autosomal recessive
401866,Childhood-onset spasticity with hyperglycinemia,Childhood,Autosomal recessive
401869,Multiple mitochondrial dysfunctions syndrome type 1,Neonatal,Autosomal recessive
401874,Multiple mitochondrial dysfunctions syndrome type 2,Neonatal,Autosomal recessive
401849,Autosomal spastic paraplegia type 72,Childhood,"Autosomal dominant, Autosomal recessive"
401854,Lipoic acid biosynthesis defect,"Childhood, Neonatal",Autosomal recessive
401859,Lipoic acid synthetase deficiency,Neonatal,Autosomal recessive
401862,Lipoyl transferase 1 deficiency,"Infancy, Neonatal",Autosomal recessive
402823,Hepatitis delta,All ages,Not applicable
401920,Fibrolamellar hepatocellular carcinoma,"Adolescent, Adult",Not applicable
401911,AXIN2-related polyposis,Adult,Autosomal dominant
401901,Huntington disease-like syndrome due to C9ORF72 expansions,Adult,Autosomal dominant
401942,Familial median cleft of the upper and lower lips,Neonatal,Unknown
401935,14q24.1q24.3 microdeletion syndrome,Neonatal,Unknown
401923,9q31.1q31.3 microdeletion syndrome,Neonatal,Unknown
401959,Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,Neonatal,Autosomal recessive
401953,Episodic ataxia with slurred speech,Infancy,Autosomal dominant
401948,Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
401945,Moyamoya disease with early-onset achalasia,"Infancy, Neonatal",Autosomal recessive
401986,1p31p32 microdeletion syndrome,Neonatal,Unknown
401979,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",Antenatal,Autosomal recessive
401973,MEND syndrome,"Infancy, Neonatal",X-linked recessive
401964,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,"Childhood, Infancy",Autosomal dominant
402003,Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,Childhood,Autosomal dominant
402007,Lichen myxedematosus,"Adult, Infancy",
401993,Cold-induced sweating syndrome-hyperthermia spectrum,,Autosomal recessive
401996,Karyomegalic interstitial nephritis,Adult,Autosomal recessive
402035,Eosinophilic colitis,"Adult, Infancy",
402026,Acute myeloid leukemia with NPM1 somatic mutations,,Not applicable
402082,Progressive myoclonic epilepsy type 5,Adolescent,Autosomal dominant
402364,Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,Infancy,Autosomal recessive
402041,Autosomal recessive distal renal tubular acidosis,"Childhood, Infancy",Autosomal recessive
402075,Familial bicuspid aortic valve,"Infancy, Neonatal",Autosomal dominant
806,Scott syndrome,All ages,Autosomal recessive
404473,Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome,Infancy,Unknown
404463,Multisystemic smooth muscle dysfunction syndrome,Infancy,Unknown
404466,Female infertility due to zona pellucida defect,Adult,"Autosomal dominant, Autosomal recessive"
404451,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,Neonatal,Autosomal recessive
404454,Alacrimia-choreoathetosis-liver dysfunction syndrome,"Infancy, Neonatal",Autosomal recessive
404443,Tatton-Brown-Rahman syndrome,Neonatal,Autosomal dominant
404448,Helsmoortel-Van der Aa syndrome,"Childhood, Infancy",Unknown
404437,Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome,"Infancy, Neonatal",Autosomal recessive
404560,Familial atypical multiple mole melanoma syndrome,All ages,Autosomal dominant
404553,Deficiency of adenosine deaminase 2,"Childhood, Infancy",Autosomal recessive
404546,DITRA,All ages,Autosomal recessive
404521,Spinal muscular atrophy with respiratory distress type 2,Neonatal,Unknown
404514,Acquired cystic disease-associated renal cell carcinoma,"Adult, Elderly",
404507,Chondromyxoid fibroma,"Adolescent, Adult, Childhood, Elderly",Not applicable
404499,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency,Infancy,Autosomal recessive
404493,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency,"Childhood, Infancy",Autosomal recessive
404481,Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome,,Autosomal recessive
404476,Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome,Infancy,Not applicable
411527,Central retinal vein occlusion,"Adult, Elderly",Not applicable
411536,Mild phosphoribosylpyrophosphate synthetase superactivity,"Adolescent, Adult",X-linked recessive
411543,Severe phosphoribosylpyrophosphate synthetase superactivity,"Childhood, Infancy, Neonatal",X-linked recessive
411590,Wolfram-like syndrome,Childhood,Autosomal dominant
411593,Insulin autoimmune syndrome,"Adult, Elderly",Not applicable
411602,Hereditary late-onset Parkinson disease,"Adult, Elderly",Autosomal dominant
411629,Infantile nephropathic cystinosis,Infancy,Autosomal recessive
411493,Pontocerebellar hypoplasia type 10,Neonatal,Autosomal recessive
411501,Williams-Campbell syndrome,"Adult, Childhood",Not applicable
411511,Angelman syndrome due to a point mutation,Infancy,Not applicable
411515,Angelman syndrome due to imprinting defect in 15q11-q13,Infancy,Not applicable
411777,Generalized eruptive keratoacanthoma,"Adult, Elderly",Not applicable
411712,Maternal riboflavin deficiency,Adult,Autosomal dominant
411788,Familial isolated trichomegaly,Neonatal,Autosomal recessive
411986,Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome,Infancy,Autosomal recessive
412035,13q12.3 microdeletion syndrome,Neonatal,Unknown
412022,Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,"Adolescent, Childhood",Autosomal recessive
411641,Ocular cystinosis,Adult,Autosomal recessive
411634,Juvenile nephropathic cystinosis,"Adolescent, Childhood",Autosomal recessive
411709,Renal agenesis,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
411703,Pulmonary non-tuberculous mycobacterial infection,All ages,Not applicable
371428,Multicentric osteolysis-nodulosis-arthropathy spectrum,"Childhood, Infancy",Autosomal recessive
371364,Hypotonia-speech impairment-severe cognitive delay syndrome,"Infancy, Neonatal",Autosomal recessive
391673,Necrotizing enterocolitis,Neonatal,Not applicable
391677,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,"Infancy, Neonatal",Autosomal recessive
391723,Mucinous adenocarcinoma of the appendix,"Adult, Elderly",
391474,Frontorhiny,Neonatal,Autosomal recessive
391504,Transient neonatal myasthenia gravis,"Antenatal, Neonatal",Not applicable
391497,Juvenile myasthenia gravis,"Adolescent, Childhood, Infancy, Neonatal",Not applicable
391490,Adult-onset myasthenia gravis,Adult,"Multigenic/multifactorial, Not applicable"
391487,STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome,Infancy,Autosomal dominant
391646,Feingold syndrome type 2,"Antenatal, Neonatal",Autosomal dominant
391641,Feingold syndrome type 1,"Antenatal, Neonatal",Autosomal dominant
391665,Homozygous familial hypercholesterolemia,Neonatal,"Autosomal dominant, Autosomal recessive"
391655,Off-periods in Parkinson disease not responding to oral treatment,"Adult, Elderly",Not applicable
391651,Glomus tumor,All ages,
391343,Fatal post-viral neurodegenerative disorder,Childhood,Autosomal recessive
391348,Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,"Infancy, Neonatal",Autosomal recessive
391351,SURF1-related Charcot-Marie-Tooth disease type 4,Childhood,Autosomal recessive
391366,Growth retardation-mild developmental delay-chronic hepatitis syndrome,"Infancy, Neonatal",Autosomal recessive
391372,FOXP1 Syndrome,"Infancy, Neonatal",Autosomal dominant
391376,Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome,"Infancy, Neonatal",Autosomal recessive
391384,Familial episodic pain syndrome,"Infancy, Neonatal",Autosomal dominant
391389,Familial episodic pain syndrome with predominantly upper body involvement,"Infancy, Neonatal",Autosomal dominant
391392,Familial episodic pain syndrome with predominantly lower limb involvement,"Infancy, Neonatal",Autosomal dominant
391397,Hereditary sensory and autonomic neuropathy type 7,"Infancy, Neonatal",Autosomal dominant
391408,Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,"Adolescent, Childhood",Autosomal recessive
391411,Atypical juvenile parkinsonism,"Adolescent, Adult","Autosomal recessive, Not applicable"
391417,HSD10 disease,"Childhood, Infancy, Neonatal",X-linked dominant
391428,"HSD10 disease, infantile type","Infancy, Neonatal",X-linked dominant
391457,"HSD10 disease, neonatal type","Infancy, Neonatal",X-linked dominant
391307,Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
391316,Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,"Infancy, Neonatal",Autosomal recessive
391311,Susceptibility to viral and mycobacterial infections due to STAT1 deficiency,,Autosomal recessive
391327,X-linked calvarial hyperostosis,"Infancy, Neonatal",X-linked recessive
391320,East Texas bleeding disorder,Childhood,Autosomal dominant
391330,X-linked osteoporosis with fractures,Childhood,X-linked recessive
398063,Refractory celiac disease,All ages,Not applicable
398058,Squamous cell carcinoma of the penis,Elderly,
398053,Adenocarcinoma of the penis,Elderly,
398043,Malignant tumor of penis,Elderly,
397973,Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,Neonatal,Autosomal recessive
397968,Charcot-Marie-Tooth disease type 2R,Infancy,Autosomal recessive
397964,Combined immunodeficiency due to MALT1 deficiency,Infancy,Autosomal recessive
397959,TCR-alpha-beta-positive T-cell deficiency,Infancy,Autosomal recessive
397951,Microcephaly-thin corpus callosum-intellectual disability syndrome,Infancy,Autosomal recessive
397946,Autosomal spastic paraplegia type 58,"Adolescent, Adult, Childhood, Elderly, Infancy","Autosomal dominant, Autosomal recessive"
397941,MAN1B1-CDG,"Childhood, Infancy",Autosomal recessive
397937,Polyglucosan body myopathy type 1,"Adolescent, Childhood",Autosomal recessive
397933,Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome,"Infancy, Neonatal",X-linked recessive
397927,Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,"Antenatal, Neonatal",Autosomal recessive
397922,Ferro-cerebro-cutaneous syndrome,Infancy,X-linked recessive
397787,Combined immunodeficiency due to IKBKB deficiency,Infancy,Autosomal recessive
397755,Periodic paralysis with transient compartment-like syndrome,All ages,Autosomal dominant
397758,Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,Adult,Autosomal dominant
397744,MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,Childhood,Autosomal dominant
397750,Periodic paralysis with later-onset distal motor neuropathy,"Adolescent, Adult",Mitochondrial inheritance
397725,COASY protein-associated neurodegeneration,Childhood,Autosomal recessive
397735,Autosomal dominant Charcot-Marie-Tooth disease type 2U,Adult,Autosomal dominant
397709,Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome,Infancy,Autosomal recessive
397715,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,Neonatal,Autosomal recessive
397692,Hereditary isolated aplastic anemia,Childhood,"Autosomal dominant, Autosomal recessive"
397623,Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,Neonatal,Autosomal recessive
397685,Familial hyperprolactinemia,Adult,Autosomal dominant
397615,Obesity due to CEP19 deficiency,Childhood,Autosomal recessive
397618,Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome,Neonatal,Autosomal recessive
397596,Activated PI3K-delta syndrome,"Adult, Childhood, Infancy",Autosomal dominant
397593,Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,Neonatal,Autosomal recessive
397612,Macrocephaly-developmental delay syndrome,Neonatal,Autosomal recessive
397606,PrP systemic amyloidosis,Adult,Autosomal dominant
397590,Silver-Russell syndrome due to a point mutation,"Antenatal, Neonatal",Autosomal dominant
397587,Deep dermatophytosis,"Adult, Childhood",Not applicable
394532,"Multiple acyl-CoA dehydrogenase deficiency, mild type",,Autosomal recessive
394529,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type","Infancy, Neonatal",Autosomal recessive
399808,Male infertility with teratozoospermia due to single gene mutation,"Adolescent, Adult",
399805,Male infertility with azoospermia or oligozoospermia due to single gene mutation,"Adolescent, Adult","Autosomal dominant, Autosomal recessive, X-linked recessive"
399329,Epiphysiolysis of the hip,"Adolescent, Childhood",
399180,Secondary non-traumatic avascular necrosis,Adult,Not applicable
399058,Alpha-B crystallin-related late-onset myopathy,Adult,Autosomal dominant
398987,Malignant teratoma of ovary,"Adolescent, Adult, Childhood, Infancy",Unknown
399086,HNRNPA1-related adult-onset distal myopathy,Adult,
399081,KLHL9-related early-onset distal myopathy,"Adolescent, Childhood",Autosomal dominant
399103,Autosomal recessive distal nebulin myopathy,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
399096,Distal anoctaminopathy,"Adolescent, Adult",Autosomal recessive
398934,Malignant epithelial tumor of ovary,Adult,
398961,Mucinous adenocarcinoma of ovary,Adult,
398940,Malignant non-epithelial tumor of ovary,Adult,
398971,Clear cell adenocarcinoma of the ovary,Adult,
398124,Neonatal lupus erythematosus,Neonatal,Not applicable
398127,Neonatal scleroderma,Neonatal,
398147,Persistent idiopathic facial pain,Adult,
398156,Oculoauriculofrontonasal syndrome,Neonatal,Unknown
398166,Focal facial dermal dysplasia,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
398173,Focal facial dermal dysplasia type II,"Antenatal, Neonatal",Autosomal dominant
398189,Focal facial dermal dysplasia type IV,"Antenatal, Neonatal",Autosomal recessive
398069,Schaaf-Yang syndrome,"Antenatal, Neonatal",Not applicable
398073,Prader-Willi-like syndrome,Neonatal,
398079,SIM1-related Prader-Willi-like syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
398088,Hereditary cryohydrocytosis with normal stomatin,Neonatal,Autosomal dominant
398091,Secondary neonatal autoimmune disease,Neonatal,
398097,Neonatal antiphospholipid syndrome,Neonatal,
398109,Neonatal autoimmune hemolytic anemia,Neonatal,
398117,Neonatal dermatomyositis,Neonatal,
435628,Keppen-Lubinsky syndrome,Neonatal,"Autosomal dominant, Not applicable"
435743,Congenital urachal anomaly,"Antenatal, Neonatal",
435660,LIPE-related familial partial lipodystrophy,Adult,Autosomal recessive
435651,CIDEC-related familial partial lipodystrophy,Adolescent,Autosomal recessive
435638,3p25.3 microdeletion syndrome,"Infancy, Neonatal",Not applicable
435804,Short stature-advanced bone age-early-onset osteoarthritis syndrome,"Adolescent, Childhood",Autosomal dominant
435845,Lethal neonatal spasticity-epileptic encephalopathy syndrome,Neonatal,Autosomal recessive
435930,Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,Neonatal,Autosomal recessive
435819,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation,Adult,Autosomal dominant
435953,Progeroid features-hepatocellular carcinoma predisposition syndrome,"Adolescent, Childhood",Autosomal recessive
435988,Chronic atrial and intestinal dysrhythmia syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
435934,COG2-CDG,Infancy,Autosomal recessive
435938,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,"Antenatal, Neonatal",X-linked recessive
436141,HIDEA syndrome,"Infancy, Neonatal",Autosomal recessive
436144,Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,"Antenatal, Neonatal",Autosomal dominant
435998,Autosomal recessive intermediate Charcot-Marie-Tooth disease type D,Childhood,Autosomal recessive
436003,Contractures-developmental delay-Pierre Robin syndrome,"Antenatal, Neonatal",Unknown
436159,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,"Adolescent, Adult, Childhood",Autosomal dominant
436169,Thrombomodulin-related bleeding disorder,All ages,Autosomal dominant
436166,Periodic fever-infantile enterocolitis-autoinflammatory syndrome,Neonatal,Autosomal dominant
436182,Microcephalic primordial dwarfism-insulin resistance syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
436174,Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,"Childhood, Infancy",Autosomal recessive
436245,Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,Childhood,Autosomal recessive
436242,Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease,Adult,Autosomal dominant
436271,Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,Childhood,Autosomal recessive
436252,Combined immunodeficiency-multiple intestinal atresia,Neonatal,Autosomal recessive
436274,Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,"Adolescent, Adult, Childhood",Autosomal recessive
437552,Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,"Childhood, Infancy, Neonatal",Autosomal recessive
438178,Fatty acyl-CoA reductase 1 deficiency,"Infancy, Neonatal",Autosomal recessive
438159,STAT3-related early-onset multisystem autoimmune disease,"Childhood, Infancy",Autosomal dominant
438134,PCNA-related progressive neurodegenerative photosensitivity syndrome,"Infancy, Neonatal",Autosomal recessive
438117,Steel syndrome,"Infancy, Neonatal",Autosomal recessive
438114,RARS-related autosomal recessive hypomyelinating leukodystrophy,"Infancy, Neonatal",Autosomal recessive
438075,Ketoacidosis due to monocarboxylate transporter-1 deficiency,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
438279,Human infection by orthopoxvirus,All ages,Not applicable
438274,GCGR-related hyperglucagonemia,Adult,Autosomal recessive
438266,Progressive encephalomyelitis with rigidity and myoclonus,"Adult, Infancy",Not applicable
438216,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,"Infancy, Neonatal","Autosomal dominant, Not applicable"
438213,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable, Unknown"
438207,Severe autosomal recessive macrothrombocytopenia,Infancy,Autosomal recessive
439224,ALECT2 amyloidosis,,Not applicable
439232,AApoAIV amyloidosis,Adult,Not applicable
439212,Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,"Infancy, Neonatal",Autosomal recessive
439218,KCNQ2-related developmental and epileptic encephalopathy,"Infancy, Neonatal",Autosomal dominant
439196,Zinc-responsive necrolytic acral erythema,All ages,Not applicable
439202,Non-recovering obstetric brachial plexus lesion,,Not applicable
439167,Placental insufficiency,Adult,Not applicable
439175,Pediatric arterial ischemic stroke,"Adolescent, Childhood, Infancy, Neonatal",Not applicable
439762,Systemic polyarteritis nodosa,,Not applicable
439822,PDE4D haploinsufficiency syndrome,"Infancy, Neonatal",Unknown
439746,Secondary polyarteritis nodosa,,Not applicable
439755,Single-organ polyarteritis nodosa,,Not applicable
439729,Cutaneous polyarteritis nodosa,,Not applicable
439737,Primary polyarteritis nodosa,,Not applicable
439246,ABeta2M amyloidosis,Adult,
439254,ITM2B amyloidosis,Adult,Autosomal dominant
440221,Congenital oculomotor nerve palsy,Neonatal,Not applicable
440233,Congenital abducens nerve palsy,Neonatal,Not applicable
439854,Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease,"Antenatal, Neonatal",Not applicable
439849,Autosomal recessive severe congenital neutropenia,,Autosomal recessive
439897,Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,Antenatal,Autosomal recessive
439881,Plastic bronchitis,All ages,
440402,Interstitial lung disease due to ABCA3 deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
440354,Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,"Antenatal, Neonatal",Autosomal dominant
440392,Interstitial lung disease due to SP-C deficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
440368,Necrotizing soft tissue infection,All ages,Not applicable
440713,Isolated sedoheptulokinase deficiency,"Antenatal, Neonatal",Autosomal recessive
440727,Combined hamartoma of the retina and retinal pigment epithelium,Childhood,Not applicable
440731,L-ferritin deficiency,Childhood,"Autosomal dominant, Autosomal recessive"
440427,Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,"Childhood, Infancy",Autosomal recessive
440437,Familial colorectal cancer Type X,"Adult, Elderly",Autosomal dominant
440706,Ribose-5-P isomerase deficiency,Childhood,Autosomal recessive
441447,Early-onset posterior subcapsular cataract,,"Autosomal dominant, Autosomal recessive"
441452,Early-onset lamellar cataract,,Autosomal dominant
440987,Isolated agenesis of gallbladder,All ages,Not applicable
443057,Sporadic porphyria cutanea tarda,,Multigenic/multifactorial
443062,Familial porphyria cutanea tarda,,Autosomal dominant
443079,Central serous chorioretinopathy,,Not applicable
443084,Baroreflex failure,All ages,Not applicable
443070,Hemicrania continua,,Not applicable
443073,Charcot-Marie-Tooth disease type 2S,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
442835,Non-specific early-onset epileptic encephalopathy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive"
442582,AH amyloidosis,Neonatal,Not applicable
443197,X-linked erythropoietic protoporphyria,Childhood,X-linked dominant
3008,Pyruvate carboxylase deficiency,"Infancy, Neonatal","Autosomal recessive, Not applicable"
443192,Classic stiff person syndrome,Adult,Not applicable
595,Centronuclear myopathy,"Adolescent, Adult, Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
443180,Spontaneous intracranial hypotension,"Adolescent, Adult, Childhood, Elderly",Not applicable
443173,Postpartum psychosis,Adult,Not applicable
443291,HIV-associated cancer,,Not applicable
298,Mitochondrial neurogastrointestinal encephalomyopathy,"Adolescent, Adult, Childhood",Autosomal recessive
396,Chronic hiccup,All ages,Not applicable
443236,Postural orthostatic tachycardia syndrome due to NET deficiency,Adult,Autosomal dominant
552,MODY,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
854,Non-malignant and non-cirrhotic portal vein thrombosis,All ages,Not applicable
443227,Paratyphoid fever,All ages,Not applicable
443098,Hyperostosis cranialis interna,"Adolescent, Adult, Childhood",Autosomal dominant
443087,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency",Neonatal,Autosomal recessive
443167,NUT midline carcinoma,"Adolescent, Adult, Childhood, Elderly",Not applicable
130,Brugada syndrome,"Adult, Childhood","Autosomal dominant, Not applicable"
277,Severe combined immunodeficiency due to adenosine deaminase deficiency,"Infancy, Neonatal",Autosomal recessive
443162,NDE1-related microhydranencephaly,"Antenatal, Neonatal",Autosomal recessive
443159,Lymphoplasmacytic lymphoma without IgM production,,Not applicable
443101,Hypothalamic adipsic hypernatraemia syndrome,,Not applicable
443804,Focal stiff limb syndrome,Adult,Not applicable
443811,PGM3-CDG,"Childhood, Infancy, Neonatal",Autosomal recessive
443950,DNAJB2-related Charcot-Marie-Tooth disease type 2,Adult,Autosomal recessive
443988,Ventriculomegaly-cystic kidney disease,Antenatal,Autosomal recessive
444092,Autoimmune interstitial lung disease-arthritis syndrome,"Childhood, Infancy",Autosomal dominant
444099,Autosomal dominant spastic paraplegia type 73,Adult,Autosomal dominant
444138,Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome,Infancy,Autosomal recessive
444002,11q22.2q22.3 microdeletion syndrome,"Infancy, Neonatal",Not applicable
443995,Mandibulofacial dysostosis with alopecia,"Infancy, Neonatal","Autosomal dominant, Not applicable"
444048,"46,XX ovarian dysgenesis-short stature syndrome",Adolescent,Autosomal recessive
444013,Combined oxidative phosphorylation defect type 23,"Childhood, Infancy, Neonatal",Autosomal recessive
444069,Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome,Antenatal,Autosomal recessive
444051,20q11.2 microdeletion syndrome,"Antenatal, Neonatal",Not applicable
444077,Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
444072,Cerebellar-facial-dental syndrome,"Antenatal, Neonatal",Autosomal recessive
444463,Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency,"Childhood, Infancy",Autosomal recessive
444490,Familial chylomicronemia syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
444316,Idiopathic phalangeal acro-osteolysis,,Not applicable
444458,Combined oxidative phosphorylation defect type 24,Infancy,Autosomal recessive
445110,Limb-girdle muscular dystrophy due to POMK deficiency,Infancy,Autosomal recessive
445062,Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,"Adolescent, Childhood, Infancy",Autosomal recessive
445038,3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome,"Antenatal, Neonatal",Autosomal recessive
445018,Syndromic autoimmune enteropathy due to LRBA deficiency,"Childhood, Infancy",Autosomal recessive
447731,NIK deficiency,"Infancy, Neonatal",Autosomal recessive
447737,Combined immunodeficiency due to DOCK2 deficiency,"Infancy, Neonatal",Autosomal recessive
447740,Aggressive periodontitis,Adolescent,Autosomal recessive
447881,Idiopathic dropped head syndrome,All ages,Not applicable
447877,Polymerase proofreading-related polyposis,Childhood,Autosomal dominant
447896,Tremor-ataxia-central hypomyelination syndrome,"Childhood, Infancy",Autosomal recessive
447893,Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,"Childhood, Infancy",Autosomal recessive
447788,Cerebral visual impairment,"Infancy, Neonatal",Not applicable
447795,Lipoyl transferase 2 deficiency,No data available,No data available
447774,Secondary sclerosing cholangitis,,Not applicable
447784,Mitochondrial pyruvate carrier deficiency,Neonatal,Autosomal recessive
447777,Keratocystic odontogenic tumor,,Not applicable
447757,Autosomal dominant spastic paraplegia type 9B,"Adolescent, Adult, Infancy",Autosomal dominant
447753,Autosomal dominant spastic paraplegia type 9A,"Adolescent, Adult, Infancy",Autosomal dominant
447764,IgG4-related sclerosing cholangitis,,Not applicable
447760,Autosomal recessive spastic paraplegia type 9B,"Childhood, Infancy",Autosomal recessive
412066,PRKAR1B-related neurodegenerative dementia with intermediate filaments,Adult,Autosomal dominant
412057,Autosomal recessive cerebellar ataxia due to STUB1 deficiency,"Adolescent, Adult, Childhood",Autosomal recessive
412181,Epidermolysis bullosa simplex due to BP230 deficiency,Adult,Autosomal recessive
412069,AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome,Neonatal,Autosomal dominant
412189,Epidermolysis bullosa simplex due to exophilin 5 deficiency,Childhood,Autosomal recessive
412217,Dystonia-aphonia syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
412206,Primary failure of tooth eruption,,Autosomal dominant
418959,Squamous cell carcinoma of the stomach,"Adult, Elderly",Not applicable
418945,"Carcinoma of esophagus, salivary gland type","Adult, Elderly",Not applicable
418951,Undifferentiated carcinoma of esophagus,"Adult, Elderly",Not applicable
420259,Secondary pulmonary alveolar proteinosis,,Not applicable
420179,Malan overgrowth syndrome,Infancy,"Autosomal dominant, Unknown"
415286,Bilirubin encephalopathy,"Infancy, Neonatal",Not applicable
420789,Autoimmune encephalopathy with parasomnia and obstructive sleep apnea,"Adult, Elderly",Not applicable
420794,Cono-spondylar dysplasia,"Antenatal, Infancy, Neonatal",Autosomal recessive
420702,Autosomal recessive severe congenital neutropenia due to CSF3R deficiency,"Infancy, Neonatal",Autosomal recessive
420728,Combined oxidative phosphorylation defect type 20,Infancy,Autosomal recessive
420733,Combined oxidative phosphorylation defect type 21,Neonatal,Autosomal recessive
420741,RIDDLE syndrome,"Adolescent, Infancy",Autosomal recessive
420492,"Adult-onset cervical dystonia, DYT23 type",Adult,Autosomal dominant
420485,Cranio-cervical dystonia with laryngeal and upper-limb involvement,"Adolescent, Adult, Childhood",Autosomal dominant
420556,Visual snow syndrome,,Not applicable
420402,Semicircular canal dehiscence syndrome,All ages,Not applicable
420429,"Glycogen storage disease due to acid maltase deficiency, late-onset","Adolescent, Adult",Autosomal recessive
420611,Transient myeloproliferative syndrome,"Antenatal, Neonatal",Not applicable
420584,Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,"Antenatal, Neonatal",Autosomal dominant
420699,Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,"Infancy, Neonatal",Autosomal recessive
420686,Woolly hair-palmoplantar keratoderma syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
420561,Temple-Baraitser syndrome,"Infancy, Neonatal",Autosomal dominant
420573,Severe combined immunodeficiency due to CTPS1 deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
420566,Bleeding disorder due to CalDAG-GEFI deficiency,Infancy,Autosomal recessive
423461,Mucolipidosis type III alpha/beta,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
423470,Mucolipidosis type III gamma,,Autosomal recessive
423454,Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,Infancy,Autosomal recessive
423384,Severe congenital neutropenia due to JAGN1 deficiency,"Infancy, Neonatal",Autosomal recessive
423296,Spinocerebellar ataxia type 38,Adult,Autosomal dominant
423306,Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
423717,Cutaneous larva migrans,All ages,Not applicable
423693,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect,,Multigenic/multifactorial
423712,"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy",,Multigenic/multifactorial
423479,X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency,"Antenatal, Neonatal",X-linked recessive
423655,ARX-related encephalopathy-brain malformation spectrum,"Antenatal, Childhood, Infancy, Neonatal",
422526,Hereditary clear cell renal cell carcinoma,Adult,Unknown
423275,Spinocerebellar ataxia type 40,Adult,Autosomal dominant
424065,Pancreatic solid pseudopapillary neoplasm,Adult,Not applicable
424058,Intraductal papillary mucinous carcinoma of pancreas,Adult,Not applicable
424080,Undifferentiated carcinoma with osteoclast-like giant cells of pancreas,Adult,Not applicable
424073,Serous cystadenocarcinoma of pancreas,Adult,Not applicable
424107,Congenital myopathy with myasthenic-like onset,"Infancy, Neonatal",Autosomal recessive
424099,Colobomatous microphthalmia-rhizomelic dysplasia syndrome,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
424261,TOR1AIP1-related limb-girdle muscular dystrophy,"Adolescent, Childhood",Autosomal recessive
424016,Adenocarcinoma of the anal canal,Adult,Not applicable
424027,Progressive myoclonic epilepsy type 8,"Adolescent, Childhood",Autosomal recessive
424019,Squamous cell carcinoma of the anal canal,Adult,Not applicable
424039,Squamous cell carcinoma of pancreas,Adult,Not applicable
424053,Mucinous cystadenocarcinoma of the pancreas,Adult,Not applicable
424046,Acinar cell carcinoma of pancreas,Adult,Not applicable
423968,Squamous cell carcinoma of the small intestine,"Adult, Elderly",Not applicable
423994,Squamous cell carcinoma of the colon,Adult,Not applicable
424002,Squamous cell carcinoma of the rectum,Adult,Not applicable
423786,Undifferentiated carcinoma of stomach,Adult,Not applicable
423894,Microcephaly-complex motor and sensory axonal neuropathy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
431140,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,"Antenatal, Neonatal",X-linked recessive
425120,STING-associated vasculopathy with onset in infancy,Infancy,Autosomal dominant
424943,Adenocarcinoma of the liver and intrahepatic biliary tract,Adult,Not applicable
424970,Undifferentiated carcinoma of liver and intrahepatic biliary tract,Adult,Not applicable
424991,Adenocarcinoma of the gallbladder and extrahepatic biliary tract,Adult,Not applicable
424996,Squamous cell carcinoma of gallbladder and extrahepatic biliary tract,Adult,Not applicable
424975,Squamous cell carcinoma of liver and intrahepatic biliary tract,Adult,Not applicable
424982,Biliary cystadenocarcinoma,Adult,Not applicable
431361,Progressive encephalopathy with leukodystrophy due to DECR deficiency,"Infancy, Neonatal",Autosomal recessive
431353,Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,All ages,
431341,Patent urachus,Neonatal,Not applicable
431344,Urachal sinus,"Infancy, Neonatal",Not applicable
431347,Urachal diverticulum,,Not applicable
431272,X-linked scapuloperoneal muscular dystrophy,Adult,X-linked dominant
431329,Autosomal recessive spastic paraplegia type 57,Infancy,Autosomal recessive
431255,Scapuloperoneal spinal muscular atrophy,"Childhood, Infancy, Neonatal",Autosomal dominant
431149,Combined immunodeficiency due to OX40 deficiency,Childhood,Autosomal recessive
431166,Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,Infancy,Autosomal recessive
435438,Progressive myoclonic epilepsy type 7,Childhood,Autosomal dominant
435387,Autosomal dominant Charcot-Marie-Tooth disease type 2Y,"Adult, Childhood",Autosomal dominant
435372,Anterior urethral valve,"Adolescent, Antenatal, Childhood, Infancy, Neonatal",Not applicable
435329,Familial ossifying fibroma,"Adolescent, Adult, Childhood",Autosomal dominant
434809,Syndrome with woolly hair,Neonatal,
434179,Orofaciodigital syndrome type 14,"Antenatal, Neonatal",Autosomal recessive
504476,Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,"Adult, Elderly",Autosomal recessive
504523,Severe combined immunodeficiency due to LAT deficiency,Infancy,Autosomal recessive
504530,Combined immunodeficiency due to Moesin deficiency,Childhood,X-linked recessive
26793,Very long chain acyl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
29072,Hereditary pheochromocytoma-paraganglioma,Childhood,Autosomal dominant
28378,Tyrosinemia type 2,"Adolescent, Childhood, Infancy, Neonatal",Autosomal recessive
29207,Reactive arthritis,"Adolescent, Adult, Elderly","Multigenic/multifactorial, Not applicable"
29073,Multiple myeloma,Adult,Not applicable
29822,Spontaneous periodic hypothermia,All ages,Unknown
30391,Isolated biliary atresia,"Antenatal, Infancy, Neonatal",Multigenic/multifactorial
320,Apparent mineralocorticoid excess,"Infancy, Neonatal",Autosomal recessive
724,Idiopathic acute eosinophilic pneumonia,All ages,Unknown
230,Dopamine beta-hydroxylase deficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
725,Developmental and epileptic encephalopathy with spike-wave activation in sleep,Childhood,"Autosomal dominant, Not applicable"
590,Congenital myasthenic syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
404,Familial hyperaldosteronism type II,Adult,Autosomal dominant
756,Pseudohypoaldosteronism type 1,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
162,Congenital cataract-anterior segment dysgenesis syndrome,"Infancy, Neonatal",Autosomal dominant
544,Diffuse large B-cell lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
545,Follicular lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
88,Idiopathic aplastic anemia,Adult,Unknown
102,Multiple system atrophy,Adult,"Multigenic/multifactorial, Not applicable"
824,Primary myelofibrosis,Adult,Not applicable
748,Mendelian susceptibility to mycobacterial diseases,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
729,Polycythemia vera,All ages,Not applicable
25980,X-linked myopathy with excessive autophagy,"Adolescent, Adult, Childhood, Infancy, Neonatal",X-linked recessive
26137,Juvenile temporal arteritis,Childhood,Unknown
26106,Hereditary diffuse gastric cancer,Adult,Autosomal dominant
505395,Ventilator-induced diaphragmatic dysfunction,All ages,
25968,Self-limited childhood occipital epilepsy,"Adolescent, Childhood, Infancy",Not applicable
26790,Pseudomyxoma peritonei,Adult,Unknown
26792,Short chain acyl-CoA dehydrogenase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
26791,Multiple acyl-CoA dehydrogenase deficiency,All ages,Autosomal recessive
26349,Protein S acquired deficiency,,Not applicable
831,Congenital cervical spinal stenosis,"Adolescent, Adult",
49,Penile agenesis,"Antenatal, Neonatal",
227,Diphallia,"Infancy, Neonatal",
674,Accessory pancreas,"Infancy, Neonatal",Not applicable
353,Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5,Childhood,Autosomal recessive
219,Delta-sarcoglycan-related limb-girdle muscular dystrophy R6,Childhood,Autosomal recessive
641,Multifocal motor neuropathy,Adult,Unknown
119,Beta-sarcoglycan-related limb-girdle muscular dystrophy R4,"Adolescent, Childhood",Autosomal recessive
603,"Distal myopathy, Welander type",Adult,Autosomal dominant
505227,Combined immunodeficiency due to GINS1 deficiency,"Antenatal, Neonatal",Autosomal recessive
588,Muscle-eye-brain disease,"Antenatal, Infancy, Neonatal",Autosomal recessive
505237,Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome,Infancy,Autosomal recessive
899,Walker-Warburg syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
505216,3-methylglutaconic aciduria type 9,Infancy,Autosomal recessive
272,"Congenital muscular dystrophy, Fukuyama type",Infancy,Autosomal recessive
505208,3-methylglutaconic aciduria type 8,Neonatal,Autosomal recessive
268,Dysferlin-related limb-girdle muscular dystrophy R2,"Adolescent, Adult",Autosomal recessive
263,Limb-girdle muscular dystrophy,All ages,"Autosomal dominant, Autosomal recessive"
600,Vocal cord and pharyngeal distal myopathy,Adult,Autosomal dominant
505248,Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,Infancy,Autosomal recessive
609,Tibial muscular dystrophy,Adult,"Autosomal dominant, Autosomal recessive"
602,GNE myopathy,"Adolescent, Adult","Autosomal dominant, Autosomal recessive"
505242,Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,Infancy,Autosomal recessive
508093,MEPAN syndrome,"Childhood, Infancy",Autosomal recessive
508533,Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,"Antenatal, Neonatal",Autosomal recessive
508542,Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,Neonatal,Autosomal recessive
508410,Familial intestinal malrotation,All ages,
508512,Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,"Antenatal, Neonatal",Autosomal recessive
508529,Intermediate epidermolysis bullosa simplex with cardiomyopathy,Neonatal,Autosomal dominant
508523,Hyperphenylalaninemia due to DNAJC12 deficiency,Infancy,Autosomal recessive
508488,8q24.3 microdeletion syndrome,"Antenatal, Neonatal",Not applicable
508476,Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome,Neonatal,Autosomal recessive
508501,Orofaciodigital syndrome type 18,Neonatal,Autosomal recessive
508498,Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome,"Infancy, Neonatal",Autosomal dominant
505652,CDKL5-deficiency disorder,"Infancy, Neonatal",X-linked dominant
506334,Familial steroid-resistant nephrotic syndrome with adrenal insufficiency,,Autosomal recessive
506307,Stromme syndrome,Antenatal,Autosomal recessive
506358,Gabriele-de Vries syndrome,"Antenatal, Neonatal",Autosomal dominant
506353,Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,"Childhood, Infancy",Autosomal recessive
506060,Functioning neuroendocrine tumor of pancreas,"Adult, Elderly",
506075,Non-functioning neuroendocrine tumor of pancreas,"Adult, Elderly",
495274,Charcot-Marie-Tooth disease type 2T,Adult,Autosomal recessive
495844,C11ORF73-related autosomal recessive hypomyelinating leukodystrophy,Infancy,Autosomal recessive
495818,9q33.3q34.11 microdeletion syndrome,"Childhood, Infancy",Not applicable
495879,Congenital agenesis of the scrotum,Neonatal,
495875,Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,Neonatal,Autosomal recessive
495930,Familial monosomy 7 syndrome,"Childhood, Infancy",
496641,Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,"Infancy, Neonatal",Autosomal recessive
496686,Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
496689,Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,"Infancy, Neonatal",Autosomal recessive
496693,Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,"Antenatal, Neonatal",
496751,EVEN-plus syndrome,Antenatal,Autosomal recessive
496756,Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,"Infancy, Neonatal",Autosomal recessive
496790,Ocular anomalies-axonal neuropathy-developmental delay syndrome,"Infancy, Neonatal",Autosomal dominant
494433,MIRAGE syndrome,"Antenatal, Neonatal",Autosomal dominant
494439,Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,"Childhood, Infancy",Autosomal recessive
494424,Extracranial carotid artery aneurysm,"Adult, Elderly",
494428,Idiopathic pleuroparenchymal fibroelastosis,"Adolescent, Adult, Elderly",
494451,Vulvar basal cell carcinoma,"Adult, Elderly",
494454,Vulvar adenocarcinoma,"Adult, Elderly",
494444,DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
494448,Vulvar squamous cell carcinoma,"Adult, Elderly",
494344,RERE-related neurodevelopmental syndrome,"Antenatal, Neonatal",Autosomal dominant
494418,Vulvar carcinoma,"Adult, Elderly",
494421,Sacrococcygeal teratoma,All ages,
494547,Squamous cell carcinoma of the hypopharynx,"Adult, Elderly",Not applicable
494541,Childhood-onset benign chorea with striatal involvement,Childhood,Autosomal dominant
494526,Infantile-onset generalized dyskinesia with orofacial involvement,Infancy,Autosomal recessive
494550,Squamous cell carcinoma of the larynx,"Adolescent, Adult, Childhood, Elderly",Not applicable
500180,Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,Childhood,Autosomal dominant
500188,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,Neonatal,X-linked recessive
68,Amoebiasis due to free-living amoebae,All ages,Not applicable
781,Q fever,All ages,Not applicable
500150,ZTTK syndrome,Neonatal,Autosomal dominant
500159,Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom,"Childhood, Infancy",Autosomal dominant
500163,Witteveen-Kolk syndrome,"Antenatal, Neonatal",Autosomal dominant
302,Inherited epidermodysplasia verruciformis,All ages,Autosomal recessive
297,Tick-borne encephalitis,All ages,Not applicable
500166,SIN3-related intellectual disability syndrome due to a point mutation,"Antenatal, Infancy, Neonatal",Autosomal dominant
182,Chromomycosis,All ages,Not applicable
128,Diphyllobothriasis,All ages,Not applicable
210,Cyclosporiasis,All ages,Not applicable
76,Strongyloidiasis,All ages,Not applicable
74,Angiostrongyliasis,All ages,Not applicable
108,Babesiosis,All ages,Not applicable
78,Ankylostomiasis,All ages,Not applicable
500135,Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,Antenatal,Autosomal recessive
500144,Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,Neonatal,Autosomal recessive
500055,Hao-Fountain syndrome due to 16p13.2 microdeletion,"Childhood, Infancy",Not applicable
500095,Tall stature-intellectual disability-renal anomalies syndrome,"Antenatal, Neonatal",Autosomal recessive
500062,Infantile-onset periodic fever-panniculitis-dermatosis syndrome,"Infancy, Neonatal",Autosomal recessive
129,Pseudopelade of Brocq,Adult,Not applicable
123,Björnstad syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
898,Wagner disease,Childhood,Autosomal dominant
500478,Squamous cell carcinoma of the oropharynx,"Adolescent, Adult, Elderly",Not applicable
518,Acute megakaryoblastic leukemia,"Adult, Childhood",Not applicable
318,Acute erythroid leukemia,"Adolescent, Adult, Childhood, Elderly",Not applicable
514,Acute monoblastic/monocytic leukemia,Childhood,Not applicable
517,Acute myelomonocytic leukemia,Adult,Not applicable
505,Graham Little-Piccardi-Lassueur syndrome,Adult,
346,Quinquaud folliculitis decalvans,Adult,Not applicable
222,Erosive pustular dermatosis of the scalp,"Adolescent, Adult, Childhood, Elderly",Not applicable
170,Woolly hair,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
500548,Osteosclerotic metaphyseal dysplasia,Infancy,Autosomal recessive
169,Ringed hair disease,Childhood,"Autosomal dominant, Not applicable"
500533,Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
168,Loose anagen syndrome,Childhood,Autosomal dominant
500545,Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract,"Infancy, Neonatal",Autosomal dominant
345,Dissecting cellulitis of the scalp,Adult,Not applicable
591,Furuncular myiasis,All ages,Not applicable
723,Pneumocystosis,All ages,Not applicable
472,Isosporiasis,All ages,Not applicable
504,Creeping myiasis,,Not applicable
401,Hymenolepiasis,All ages,Not applicable
400,Cystic echinococcosis,Adult,Not applicable
500464,Squamous cell carcinoma of the nasal cavity and paranasal sinuses,"Adult, Elderly",Not applicable
520,Acute promyelocytic leukemia,"Adolescent, Adult, Childhood, Elderly",Not applicable
450,Visceral heterotaxy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
529,Roch-Leri mesosomatous lipomatosis,No data available,Autosomal dominant
224,Neonatal diabetes mellitus,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
826,Sporotrichosis,All ages,Not applicable
879,Tungiasis,All ages,Not applicable
502305,Cochleovestibular malformation,Neonatal,
502318,Cochlear nerve deficiency,Neonatal,
502363,Squamous cell carcinoma of the oral cavity,"Adolescent, Adult, Childhood, Elderly",Not applicable
502366,Squamous cell carcinoma of the lip,"Adult, Elderly",Not applicable
502423,Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,"Adult, Infancy",Autosomal dominant
502430,Weiss-Kruszka Syndrome,"Antenatal, Neonatal",Autosomal dominant
502434,STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
502437,4q25 proximal deletion syndrome,Infancy,
502499,Erythema multiforme major,All ages,
502444,Alkaline ceramidase 3 deficiency,Infancy,Autosomal recessive
432,Normosmic congenital hypogonadotropic hypogonadism,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive"
91,Aromatase deficiency,All ages,Autosomal recessive
785,Estrogen resistance syndrome,Adolescent,Autosomal recessive
873,Desmoid tumor,"Adolescent, Adult","Not applicable, Unknown"
679,Malignant atrophic papulosis,Adult,Autosomal dominant
901,Wells syndrome,Adult,Not applicable
703,Bullous pemphigoid,All ages,Not applicable
841,Sebocystomatosis,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
817,Peeling skin syndrome,"Infancy, Neonatal",Autosomal recessive
867,Familial multiple trichoepithelioma,Childhood,Autosomal dominant
735,Porokeratosis of Mibelli,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
497906,Childhood-onset basal ganglia degeneration syndrome,"Childhood, Infancy",Autosomal recessive
659,Mutilating palmoplantar keratoderma with periorificial keratotic plaques,"Childhood, Infancy, Neonatal","Autosomal dominant, Not applicable, X-linked recessive"
737,Porokeratosis plantaris palmaris et disseminata,"Adolescent, Adult","Autosomal dominant, X-linked dominant"
497623,C12ORF65-related combined oxidative phosphorylation defect,All ages,
523,Hereditary leiomyomatosis and renal cell cancer,"Adolescent, Adult, Elderly",Autosomal dominant
497737,Epidermolytic nevus,All ages,
314,Erythroderma desquamativum,Infancy,Autosomal recessive
497757,MME-related autosomal dominant Charcot Marie Tooth disease type 2,Adult,Autosomal dominant
497764,Spinocerebellar ataxia type 43,"Adult, Elderly",Autosomal dominant
530,Lipoid proteinosis,All ages,Autosomal recessive
493,Familial keratoacanthoma,All ages,Autosomal dominant
497188,Diffuse intrinsic pontine glioma,All ages,
454,Acquired ichthyosis,Adult,Not applicable
617,Congenital primary megaureter,"Adolescent, Adult, Childhood, Infancy, Neonatal",Unknown
488,Urachal cyst,"Infancy, Neonatal",Not applicable
105,Atresia of urethra,"Antenatal, Neonatal",Not applicable
237,Duplication of urethra,"Infancy, Neonatal",
734,Alpha delta granule deficiency,,"Autosomal dominant, Autosomal recessive"
721,Gray platelet syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
722,Hypoplasminogenemia,All ages,Autosomal recessive
749,Congenital prekallikrein deficiency,"Infancy, Neonatal",Autosomal recessive
853,Fetal and neonatal alloimmune thrombocytopenia,"Antenatal, Neonatal",Not applicable
483,Congenital high-molecular-weight kininogen deficiency,,Autosomal recessive
498359,Aquagenic palmoplantar keratoderma,"Adolescent, Adult, Childhood, Infancy",
852,X-linked thrombocytopenia with normal platelets,,X-linked recessive
465,Congenital plasminogen activator inhibitor type 1 deficiency,"Adolescent, Adult, Childhood, Elderly",Autosomal recessive
310,Reflex epilepsy,Childhood,
498251,Menstrual cycle-dependent periodic fever,"Adolescent, Adult",
1332,Medullary thyroid carcinoma,Adult,Not applicable
877,Neuroendocrine neoplasm,Adult,Unknown
73,Gorham-Stout disease,All ages,Not applicable
498228,Phyllodes tumor of the prostate,"Adult, Elderly",
728,Relapsing polychondritis,All ages,Unknown
467,Non-acquired combined pituitary hormone deficiency,All ages,
142,Anaplastic thyroid carcinoma,"Adult, Elderly",Not applicable
143,Parathyroid carcinoma,Adult,Not applicable
786,Generalized glucocorticoid resistance syndrome,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
1666,Dextrocardia,"Infancy, Neonatal",
1461,Criss-cross heart,"Infancy, Neonatal",Unknown
875,Primary pediatric heart tumor,Childhood,Not applicable
334,Hereditary atrial fibrillation,"Adult, Elderly",Autosomal dominant
615,Familial atrial myxoma,"Adolescent, Adult",Autosomal dominant
874,Primary adult heart tumor,Adult,Not applicable
499009,Congenital syphilis,"Antenatal, Neonatal",Not applicable
1330,Partial atrioventricular septal defect,All ages,Not applicable
1677,Familial idiopathic dilatation of the right atrium,All ages,Unknown
498497,Short rib-polydactyly syndrome type 5,Antenatal,Autosomal recessive
720,Pili bifurcati,Childhood,
671,Primary cutis verticis gyrata,All ages,
864,Trichofolliculoma,Adult,Not applicable
498602,Sugarman brachydactyly,"Infancy, Neonatal",
247,Inherited arrhythmogenic cardiomyopathy,"Adolescent, Adult","Autosomal dominant, Autosomal recessive"
498693,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,Neonatal,Autosomal recessive
444,Marie Unna hereditary hypotrichosis,"Infancy, Neonatal",Autosomal dominant
2221,Acquired hypertrichosis lanuginosa,Adult,Not applicable
498474,Hyaline fibromatosis syndrome,"Childhood, Infancy, Neonatal",
492,Proliferating trichilemmal cyst,Adult,
498481,LRP5-related primary osteoporosis,"Adolescent, Childhood",Autosomal dominant
499,Kerion celsi,All ages,Not applicable
498485,Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome,"Antenatal, Neonatal",
573,Monilethrix,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
498488,Overgrowth syndrome with 2q37 translocation,"Infancy, Neonatal",
525,Lichen planopilaris,Adult,Not applicable
700,Alopecia totalis,All ages,Multigenic/multifactorial
840,Syringocystadenoma papilliferum,"Adolescent, Childhood, Infancy, Neonatal",Unknown
384,Huriez syndrome,"Infancy, Neonatal",Autosomal dominant
315,Erythrokeratoderma ''en cocardes'',Childhood,Autosomal dominant
409,Hyperkeratosis lenticularis perstans,Adult,"Autosomal dominant, Not applicable"
41,Dyschromatosis symmetrica hereditaria,Childhood,Autosomal dominant
122,Birt-Hogg-Dubé syndrome,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
38,Acrokeratoelastoidosis of Costa,"Adolescent, Adult","Autosomal dominant, Not applicable"
39,Acromelanosis,"Infancy, Neonatal",Unknown
241,Dyschromatosis universalis hereditaria,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
316,Progressive symmetric erythrokeratodermia,"Infancy, Neonatal",Autosomal dominant
211,Familial cylindromatosis,"Adolescent, Adult",Autosomal dominant
658,Non-histaminic angioedema,All ages,"Autosomal dominant, Not applicable"
3282,Multifocal atrial tachycardia,"Infancy, Neonatal",Not applicable
188,Systemic capillary leak syndrome,Adult,Not applicable
303,Dystrophic epidermolysis bullosa,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
305,Junctional epidermolysis bullosa,"Adolescent, Antenatal, Infancy, Neonatal",Autosomal recessive
3406,Ulerythema ophryogenesis,Childhood,"Autosomal dominant, Not applicable"
499182,Pilomatrix carcinoma,"Adolescent, Adult, Elderly",
2908,Kindler epidermolysis bullosa,"Infancy, Neonatal",Autosomal recessive
81,Antisynthetase syndrome,"Adult, Elderly",Not applicable
563,Peripartum cardiomyopathy,Adult,Unknown
764,Pyomyositis,All ages,Not applicable
779,Reynolds syndrome,Adult,Not applicable
838,Susac syndrome,All ages,Unknown
889,Cutaneous small vessel vasculitis,All ages,Not applicable
482,Kimura disease,Adult,Unknown
485426,Isolated congenital hepatic fibrosis,Neonatal,
486811,Prenatal-onset spinal muscular atrophy with congenital bone fractures,Antenatal,Autosomal recessive
486815,Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,Neonatal,Autosomal recessive
485418,EMILIN-1-related connective tissue disease,Adult,Autosomal dominant
485421,MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect,Infancy,Autosomal recessive
485405,16p12.1p12.3 triplication syndrome,"Antenatal, Neonatal",
485350,CLCN4-related X-linked intellectual disability syndrome,"Childhood, Infancy",X-linked dominant
485358,Propylthiouracil embryofetopathy,"Antenatal, Infancy, Neonatal",
482606,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,"Adolescent, Childhood, Infancy, Neonatal",X-linked recessive
482601,Adenylosuccinate synthetase-like 1-related distal myopathy,"Adolescent, Childhood",Autosomal recessive
31828,Digitalis poisoning,All ages,Not applicable
480864,Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,Infancy,Autosomal recessive
31837,Pulmonary venoocclusive disease,All ages,"Autosomal recessive, Not applicable"
480907,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,"Antenatal, Neonatal",X-linked recessive
480898,Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
480880,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,"Antenatal, Infancy, Neonatal",X-linked dominant
31740,Hypersensitivity pneumonitis,All ages,Not applicable
480556,Isolated neonatal sclerosing cholangitis,Neonatal,Autosomal recessive
31826,Ethylene glycol poisoning,All ages,Not applicable
480851,Hereditary thrombocytopenia with early-onset myelofibrosis,Neonatal,Autosomal dominant
31827,Paraquat poisoning,All ages,Not applicable
31824,Colchicine poisoning,All ages,Not applicable
480682,POGLUT1-related limb-girdle muscular dystrophy R21,Adult,Autosomal recessive
31825,Methanol poisoning,All ages,Not applicable
481665,Pseudo-TORCH syndrome type 2,"Antenatal, Neonatal",Autosomal recessive
482077,HTRA1-related autosomal dominant cerebral small vessel disease,"Adult, Elderly",Autosomal dominant
481986,Familial schizencephaly,"Antenatal, Neonatal",Autosomal recessive
481152,PYCR2-related microcephaly-progressive leukoencephalopathy,Infancy,Autosomal recessive
481662,Familial Chilblain lupus,"Childhood, Infancy",Autosomal dominant
480476,Progressive familial intrahepatic cholestasis type 5,Neonatal,Autosomal recessive
480491,MYO5B-related progressive familial intrahepatic cholestasis,Neonatal,Autosomal recessive
480483,Progressive familial intrahepatic cholestasis type 4,"Childhood, Infancy",Autosomal recessive
480528,Lethal hydranencephaly-diaphragmatic hernia syndrome,Neonatal,Autosomal recessive
480524,Idiopathic peliosis hepatis,"Adult, Childhood",
480536,MSH3-related polyposis,Neonatal,Autosomal recessive
480531,Congenital portosystemic shunt,All ages,
480501,Choledochal cyst,All ages,
480520,Caroli syndrome,All ages,Autosomal recessive
477814,Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,Infancy,Autosomal recessive
477781,Primary condylar hyperplasia,All ages,
477787,Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,Childhood,Autosomal recessive
478029,Combined oxidative phosphorylation defect type 29,Infancy,Autosomal recessive
478042,Combined oxidative phosphorylation defect type 30,Neonatal,Autosomal recessive
477993,Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
477857,Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,Infancy,Autosomal recessive
477817,PMP22-RAI1 contiguous gene duplication syndrome,"Childhood, Infancy",Unknown
477831,Kosaki overgrowth syndrome,Infancy,No data available
478049,Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,Infancy,Autosomal recessive
478664,Hereditary sensory and autonomic neuropathy type 8,Neonatal,Autosomal recessive
477650,Fibroblastic rheumatism,"Adolescent, Adult, Childhood",
477661,IL21-related infantile inflammatory bowel disease,Infancy,Autosomal recessive
477684,Combined oxidative phosphorylation defect type 26,"Childhood, Infancy",Autosomal recessive
477673,Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome,Infancy,Autosomal recessive
477738,Pediatric multiple sclerosis,"Adolescent, Childhood",
477749,Pontine autosomal dominant microangiopathy with leukoencephalopathy,Adult,Autosomal dominant
477742,Nodular fasciitis,All ages,Not applicable
477774,Combined oxidative phosphorylation defect type 27,"Childhood, Infancy",Autosomal recessive
476119,Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,Neonatal,Autosomal dominant
476113,Combined immunodeficiency due to TFRC deficiency,"Childhood, Infancy",Autosomal recessive
476126,Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,Neonatal,Autosomal dominant
476406,Congenital generalized hypercontractile muscle stiffness syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
476394,PMP2-related Charcot-Marie-Tooth disease type 1,"Adolescent, Childhood",Autosomal dominant
493342,Vibratory urticaria,All ages,Autosomal dominant
488642,TELO2-related intellectual disability-neurodevelopmental disorder,Neonatal,Autosomal recessive
488647,DDX41-related hematologic malignancy predisposition syndrome,"Adult, Elderly",Multigenic/multifactorial
488650,"Distal myopathy, Tateyama type",Adult,Autosomal dominant
488618,Transketolase deficiency,"Infancy, Neonatal",Autosomal recessive
488627,Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,Infancy,Autosomal recessive
488632,TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome,"Infancy, Neonatal",Autosomal recessive
488635,Early-onset epilepsy-intellectual disability-brain anomalies syndrome,Neonatal,Autosomal recessive
488265,Osteofibrous dysplasia,"Childhood, Infancy",Autosomal dominant
488239,Acute macular neuroretinopathy,"Adolescent, Adult",
488232,Split-foot malformation-mesoaxial polydactyly syndrome,Neonatal,Autosomal recessive
488333,Autosomal dominant Charcot-Marie-Tooth disease type 2W,"Adolescent, Adult, Childhood",Autosomal dominant
488280,14q32 duplication syndrome,Adult,
488437,SIX2-related frontonasal dysplasia,Neonatal,Autosomal dominant
488434,"Camptodactyly syndrome, Guadalajara type 3",Neonatal,
488613,Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,"Childhood, Infancy",Autosomal dominant
488594,Autosomal recessive spastic paraplegia type 76,Adult,Autosomal recessive
488197,Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,"Childhood, Infancy",Autosomal dominant
488168,Microcephaly-congenital cataract-psoriasiform dermatitis syndrome,Infancy,Autosomal recessive
488191,Female infertility due to oocyte meiotic arrest,"Adolescent, Adult",Autosomal recessive
487796,Takenouchi-Kosaki syndrome,Neonatal,Autosomal dominant
487814,Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation,Childhood,Autosomal dominant
487809,Pediatric collagenous gastritis,"Adolescent, Childhood, Infancy",
487825,Pierpont syndrome,"Infancy, Neonatal",Autosomal dominant
31205,Rat-bite fever,All ages,
31204,Nocardiosis,All ages,Not applicable
31202,Melioidosis,All ages,
31150,Tangier disease,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
31043,Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,Childhood,Autosomal recessive
31112,Dermatofibrosarcoma protuberans,All ages,Not applicable
30924,Primary hypomagnesemia with secondary hypocalcemia,"Infancy, Neonatal",Autosomal recessive
30925,Hereditary arginine vasopressin deficiency,Childhood,"Autosomal dominant, Autosomal recessive, X-linked dominant"
476084,BVES-related limb-girdle muscular dystrophy,Adult,Autosomal recessive
476096,Erythrokeratodermia-cardiomyopathy syndrome,Neonatal,Not applicable
476093,HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,"Adolescent, Adult, Childhood",Autosomal dominant
71278,Congenital brain dysgenesis due to glutamine synthetase deficiency,"Infancy, Neonatal",Autosomal recessive
71279,CANOMAD syndrome,"Adult, Elderly",
71271,Split hand-split foot-deafness syndrome,"Infancy, Neonatal",Autosomal recessive
71272,Sandifer syndrome,"Adult, Childhood, Infancy",Not applicable
71273,Renal nutcracker syndrome,Adult,Unknown
71274,Disseminated peritoneal leiomyomatosis,Adult,Unknown
71275,Rh deficiency syndrome,No data available,Autosomal recessive
71276,Silent sinus syndrome,Adult,Not applicable
71277,Classic glucose transporter type 1 deficiency syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
71212,Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
71211,Neuromyelitis optica spectrum disorder,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
71267,Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,"Infancy, Neonatal",Autosomal recessive
71213,Retinal capillary malformation,All ages,Autosomal dominant
558411,Idiopathic gastroparesis,"Adolescent, Adult, Childhood, Elderly, Infancy",
70591,Chronic thromboembolic pulmonary hypertension,"Adolescent, Adult, Elderly",Not applicable
70592,Transient predisposition to invasive pyogenic bacterial infection,Childhood,Autosomal recessive
70589,Bronchopulmonary dysplasia,"Infancy, Neonatal",Not applicable
70590,Infantile apnea,"Infancy, Neonatal",
70595,Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,Adult,Autosomal recessive
70596,Congenital Epstein-Barr virus infection,"Infancy, Neonatal",Not applicable
70593,Immunodeficiency due to selective anti-polysaccharide antibody deficiency,"Adolescent, Adult, Childhood",Multigenic/multifactorial
70594,Dopa-responsive dystonia due to sepiapterin reductase deficiency,"Infancy, Neonatal",Autosomal recessive
70578,Adult acute respiratory distress syndrome,Adult,Not applicable
70573,Small cell lung cancer,Adult,Not applicable
70568,Post-transplant lymphoproliferative disease,All ages,Not applicable
70588,Meconium aspiration syndrome,"Infancy, Neonatal",Not applicable
70472,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","Infancy, Neonatal",Autosomal recessive
70567,Cholangiocarcinoma,Adult,Not applicable
70482,Carcinoma of esophagus,Adult,
70476,Vernal keratoconjunctivitis,Childhood,Not applicable
70475,Radiation proctitis,Adult,Not applicable
69744,Circumscribed palmoplantar hypokeratosis,Adult,Unknown
69745,Warty dyskeratoma,Adult,Unknown
69735,Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
69736,Bilateral acute depigmentation of the iris,Adult,Unknown
69737,Bosley-Salih-Alorainy syndrome,"Infancy, Neonatal",Autosomal recessive
69739,Athabaskan brainstem dysgenesis syndrome,"Infancy, Neonatal",Autosomal recessive
69663,Low phospholipid-associated cholelithiasis,Adult,"Autosomal dominant, Autosomal recessive"
69665,Intrahepatic cholestasis of pregnancy,Adult,"Multigenic/multifactorial, Not applicable"
69723,Tyrosinemia type 3,"Infancy, Neonatal",Autosomal recessive
69126,PAPA syndrome,Childhood,Autosomal dominant
69087,Naegeli-Franceschetti-Jadassohn syndrome,"Infancy, Neonatal",Autosomal dominant
69125,Anonychia with flexural pigmentation,"Infancy, Neonatal",Autosomal dominant
69088,Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,"Infancy, Neonatal",X-linked recessive
69083,"Ectodermal dysplasia with natal teeth, Turnpenny type","Childhood, Neonatal",Autosomal dominant
69082,Odonto-tricho-ungual-digito-palmar syndrome,"Infancy, Neonatal",Autosomal dominant
69085,Limb-mammary syndrome,"Antenatal, Neonatal",Autosomal dominant
69084,Pure hair and nail ectodermal dysplasia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
69077,Rhabdoid tumor,"Antenatal, Childhood, Infancy, Neonatal",Not applicable
69076,Familial renal glucosuria,All ages,"Autosomal dominant, Autosomal recessive"
69078,Liposarcoma,All ages,Unknown
69061,Idiopathic steroid-sensitive nephrotic syndrome,All ages,Unknown
69063,Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization,"Antenatal, Neonatal",Autosomal recessive
67048,3-methylglutaconic aciduria type 4,"Infancy, Neonatal",Autosomal recessive
69028,Dysostosis with brachydactyly,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
67046,3-methylglutaconic aciduria type 1,"Infancy, Neonatal",Autosomal recessive
67047,3-methylglutaconic aciduria type 3,Childhood,Autosomal recessive
67044,Thrombocytopenia with congenital dyserythropoietic anemia,"Infancy, Neonatal",X-linked recessive
67045,X-linked intellectual disability with isolated growth hormone deficiency,"Infancy, Neonatal",X-linked recessive
67042,Late-onset retinal degeneration,"Adult, Elderly",Autosomal dominant
67043,Amoebic keratitis,All ages,Not applicable
67039,Segmental odontomaxillary dysplasia,Childhood,Not applicable
67041,Hyaluronidase deficiency,Childhood,Autosomal recessive
67038,B-cell chronic lymphocytic leukemia,Adult,"Multigenic/multifactorial, Not applicable"
66662,Extracutaneous mastocytoma,All ages,
67036,Autosomal dominant optic atrophy and cataract,Childhood,Autosomal dominant
66661,Mast cell sarcoma,All ages,
66646,Cutaneous mastocytosis,Childhood,Not applicable
66637,Diaphanospondylodysostosis,"Antenatal, Infancy, Neonatal",Autosomal recessive
66634,Dilated cardiomyopathy with ataxia,"Childhood, Infancy",Autosomal recessive
66633,Sensorineural hearing loss-early graying-essential tremor syndrome,Adult,Autosomal dominant
66631,CEDNIK syndrome,"Infancy, Neonatal",Autosomal recessive
66630,Congenital pseudoarthrosis of the clavicle,"Childhood, Infancy, Neonatal",Not applicable
66629,Goldberg-Shprintzen megacolon syndrome,"Infancy, Neonatal",Autosomal recessive
66628,Obesity due to congenital leptin deficiency,Childhood,Autosomal recessive
66627,Tenosynovial giant cell tumor,"Adolescent, Adult, Childhood",Not applicable
66625,Cerebrooculonasal syndrome,"Antenatal, Neonatal",Autosomal dominant
66624,PANDAS,Childhood,Not applicable
66529,Tako-Tsubo cardiomyopathy,All ages,Unknown
66518,Short fifth metacarpals-insulin resistance syndrome,Adolescent,Autosomal dominant
65283,Timothy syndrome,"Antenatal, Neonatal",Autosomal dominant
65282,Carvajal syndrome,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
562639,Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,All ages,
65285,Lhermitte-Duclos disease,Adult,"Autosomal dominant, Not applicable"
65284,Biotin-thiamine-responsive basal ganglia disease,"Adult, Childhood, Infancy",Autosomal recessive
65287,Beta-ureidopropionase deficiency,"Infancy, Neonatal",Autosomal recessive
65286,3q29 microdeletion syndrome,"Infancy, Neonatal",Autosomal dominant
65681,Vaginal atresia,Childhood,Not applicable
65288,Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,"Infancy, Neonatal",Autosomal recessive
65683,Isolated focal cortical dysplasia,All ages,
65682,Benign recurrent intrahepatic cholestasis,All ages,"Autosomal dominant, Autosomal recessive"
65720,Arthrogryposis-severe scoliosis syndrome,Neonatal,
65684,Monomelic amyotrophy,"Adolescent, Adult",Unknown
65748,Multiple self-healing squamous epithelioma,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
65743,Autosomal dominant multiple pterygium syndrome,Childhood,Autosomal dominant
65759,Carpenter syndrome,"Antenatal, Childhood, Neonatal",Autosomal recessive
65753,Charcot-Marie-Tooth disease type 1,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
64744,IgG4-related thyroid disease,Adult,Not applicable
64745,Pruritic urticarial papules and plaques of pregnancy,"Adolescent, Adult",
64746,Autosomal dominant Charcot-Marie-Tooth disease type 2,All ages,Autosomal dominant
64747,X-linked Charcot-Marie-Tooth disease,,"X-linked dominant, X-linked recessive"
64748,Dejerine-Sottas syndrome,Infancy,"Autosomal dominant, Autosomal recessive, Not applicable"
64749,Charcot-Marie-Tooth disease type 4,"Childhood, Infancy",Autosomal recessive
64751,Hereditary motor and sensory neuropathy type 5,Adult,Autosomal dominant
562509,Heme oxygenase-1 deficiency,"Adolescent, Childhood",Autosomal recessive
64752,Hereditary sensory and autonomic neuropathy type 5,"Infancy, Neonatal",Autosomal recessive
64753,Spinocerebellar ataxia with axonal neuropathy type 2,"Adolescent, Adult, Childhood",Autosomal recessive
64754,Nevus comedonicus syndrome,"Childhood, Infancy, Neonatal",Not applicable
562528,Congenital limbs-face contractures-hypotonia-developmental delay syndrome,"Antenatal, Neonatal",Autosomal dominant
64755,Becker nevus syndrome,All ages,Not applicable
562559,Anterior maxillary protrusion-strabismus-intellectual disability syndrome,"Childhood, Infancy",Autosomal recessive
562538,Autosomal recessive extra-oral halitosis,,Autosomal recessive
562569,TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome,"Antenatal, Neonatal",Autosomal recessive
64686,Tolosa-Hunt syndrome,All ages,
64542,"Acrofacial dysostosis, Kennedy-Teebi type","Infancy, Neonatal",Autosomal recessive
64280,Childhood absence epilepsy,"Adolescent, Childhood",Autosomal dominant
64722,Granulomatous mastitis,"Adolescent, Adult, Elderly",
64720,Leiomyosarcoma,"Adolescent, Adult, Childhood, Elderly",Not applicable
64694,Trench fever,All ages,
64692,Bartonella bacilliformis infection,All ages,
64739,Ovarian hyperstimulation syndrome,"Adolescent, Adult",Not applicable
64734,Iridocorneal endothelial syndrome,Adult,Not applicable
64743,Hepatoportal sclerosis,All ages,
64742,Pleuropulmonary blastoma,"Infancy, Neonatal","Autosomal dominant, Not applicable"
64741,Pulmonary blastoma,Adult,Multigenic/multifactorial
561854,FOXG1 syndrome,Neonatal,
63269,Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis,,Autosomal recessive
63259,Iniencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
63260,Craniorachischisis,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
63442,Angel-shaped phalango-epiphyseal dysplasia,All ages,Autosomal dominant
63273,FLNC-related handgrip and calf weakness-distal myopathy,"Adolescent, Adult",Autosomal dominant
63275,Pemphigoid gestationis,"Adolescent, Adult",
63454,Pattern dystrophy,Adult,"Autosomal dominant, Autosomal recessive"
63455,Paraneoplastic pemphigus,All ages,Not applicable
63443,Rare epithelial tumor of stomach,Adult,"Multigenic/multifactorial, Not applicable"
63446,Acrocapitofemoral dysplasia,"Infancy, Neonatal",Autosomal recessive
63999,IgG4-related mediastinitis,,Not applicable
63862,Schisis association,"Antenatal, Neonatal","Not applicable, Unknown"
60040,Megalencephaly-capillary malformation-polymicrogyria syndrome,"Antenatal, Neonatal",Not applicable
60039,Pudendal nerve entrapment syndrome,Adult,Not applicable
60041,Congenital heart block,"Infancy, Neonatal",Not applicable
60032,Recurrent respiratory papillomatosis,"Adolescent, Adult, Childhood, Infancy",Not applicable
60033,Idiopathic bronchiectasis,All ages,Not applicable
59303,Neonatal ichthyosis-sclerosing cholangitis syndrome,Neonatal,Autosomal recessive
59305,Gestational trophoblastic neoplasm,Adult,Not applicable
59306,McLeod neuroacanthocytosis syndrome,Adult,X-linked recessive
59298,Schilder disease,Childhood,
60015,Enlarged parietal foramina,"Antenatal, Neonatal",Autosomal dominant
564003,Osteochondrosis of the metatarsal bone,"Adolescent, Adult",
60025,Pulmonary alveolar microlithiasis,All ages,"Autosomal recessive, Not applicable"
563991,Osteochondrosis of the tarsal bone,"Adolescent, Childhood",
60026,Pulmonary nodular lymphoid hyperplasia,"Adolescent, Adult, Childhood",
564178,Primary hypomagnesemia-refractory seizures-intellectual disability syndrome,"Infancy, Neonatal",Autosomal dominant
60030,Loeys-Dietz syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
59315,Rhombencephalosynapsis,"Antenatal, Infancy, Neonatal",Not applicable
60014,Argyria,All ages,Not applicable
57196,Medial condensing osteitis of the clavicle,"Adolescent, Adult, Childhood",Not applicable
563690,Furuncular myiasis due to Cordylobia rodhaini,All ages,
563708,Syndromic congenital sodium diarrhea,"Antenatal, Neonatal",Autosomal recessive
57145,SUNCT syndrome,Adult,Not applicable
563684,Furuncular myiasis due to Dermatobia hominis,All ages,
563687,Furuncular myiasis due to Cordylobia anthropophaga,All ages,
56970,Human prion disease,Adult,
563671,Mucinous cystadenoma of childhood,Childhood,
56425,Cold agglutinin disease,Adult,Multigenic/multifactorial
563676,Seromucinous cystadenoma of childhood,Childhood,
59181,Sorsby fundus dystrophy,Adult,Autosomal dominant
59135,Laing distal myopathy,Childhood,Autosomal dominant
58017,Classic hairy cell leukemia,Adult,Unknown
57782,Mazabraud syndrome,Adult,Not applicable
55595,TNP03-related limb-girdle muscular dystrophy D2,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
55596,HNRNPDL-related limb-girdle muscular dystrophy D3,"Adolescent, Adult",Autosomal dominant
54595,Craniopharyngioma,All ages,Not applicable
54368,Sarcocystosis,All ages,
54370,Primary membranoproliferative glomerulonephritis,Adult,Not applicable
54272,Hepatocellular adenoma,"Adult, Elderly",
56304,Atelosteogenesis type II,"Infancy, Neonatal",Autosomal recessive
563666,Serous cystadenoma of childhood,Childhood,
56305,Atelosteogenesis type III,"Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
563612,Isolated exencephaly,Antenatal,
563609,Isolated anencephaly,Antenatal,Multigenic/multifactorial
56044,Carcinoma of gallbladder and extrahepatic biliary tract,Adult,Not applicable
563589,Seronegative autoimmune hepatitis,Adult,
55880,Chondrosarcoma,Adult,"Not applicable, Unknown"
563581,Autoimmune hepatitis type 2,"Adolescent, Adult, Childhood",
55881,Adamantinoma,"Adolescent, Adult, Childhood",Not applicable
563576,Autoimmune hepatitis type 1,Adult,
55654,Hypotrichosis simplex,Childhood,"Autosomal dominant, Autosomal recessive"
565837,Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23,,Autosomal recessive
565858,Craniosynostosis-microretrognathia-severe intellectual disability syndrome,"Antenatal, Neonatal",Autosomal dominant
565788,Infantile inflammatory bowel disease with neurological involvement,Infancy,Autosomal recessive
565899,POMGNT2-related limb-girdle muscular dystrophy R24,"Adolescent, Infancy",
565909,Calpain-3-related limb-girdle muscular dystrophy D4,Adult,Autosomal dominant
79233,Hypoxanthine guanine phosphoribosyltransferase partial deficiency,All ages,X-linked recessive
79230,HJV or HAMP-related hemochromatosis,"Adolescent, Adult, Childhood",Autosomal recessive
79237,Galactokinase deficiency,"Infancy, Neonatal",Autosomal recessive
566067,CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome,"Adolescent, Neonatal",Autosomal recessive
79234,Crigler-Najjar syndrome type 1,Neonatal,Autosomal recessive
79235,Crigler-Najjar syndrome type 2,"Infancy, Neonatal",Autosomal recessive
79189,Peroxisome biogenesis disorder,"Infancy, Neonatal",Autosomal recessive
565624,Combined oxidative phosphorylation defect type 39,"Antenatal, Infancy, Neonatal",Autosomal recessive
565612,Primary triglyceride deposit cardiomyovasculopathy,Adult,Autosomal recessive
565782,Methotrexate toxicity,All ages,Not applicable
79196,Disorder of the gamma-glutamyl cycle,"Childhood, Infancy, Neonatal",Autosomal recessive
79157,2-methylbutyryl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
79156,Seizures-intellectual disability due to hydroxylysinuria syndrome,Infancy,Autosomal recessive
79155,Hydroxykynureninuria,"Infancy, Neonatal",Autosomal recessive
79154,2-aminoadipic 2-oxoadipic aciduria,"Childhood, Infancy",Autosomal recessive
79153,Idiopathic trachyonychia,Childhood,Autosomal dominant
79152,Disseminated superficial actinic porokeratosis,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
79151,Acrokeratosis verruciformis of Hopf,"Adult, Infancy, Neonatal",Autosomal dominant
79150,Linear and whorled nevoid hypermelanosis,"Infancy, Neonatal",
79149,Dermochondrocorneal dystrophy,Childhood,Autosomal recessive
79148,Elastosis perforans serpiginosa,All ages,
79147,Familial reactive perforating collagenosis,Childhood,
79146,Familial progressive hyperpigmentation,"Infancy, Neonatal",Autosomal dominant
79145,Dowling-Degos disease,"Adolescent, Adult",Autosomal dominant
79144,Isolated congenital onychodysplasia,Neonatal,
79143,Isolated congenital anonychia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
79172,Creatine deficiency syndrome,"Childhood, Infancy","Autosomal recessive, Not applicable, X-linked recessive"
79168,Disorder of bile acid synthesis,All ages,
79159,Isobutyryl-CoA dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
79107,Developmental malformations-deafness-dystonia syndrome,"Adolescent, Infancy",Autosomal dominant
566231,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,All ages,Autosomal dominant
79106,Eiken syndrome,"Infancy, Neonatal",Autosomal recessive
566243,Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,All ages,Autosomal recessive
79118,Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome,Neonatal,Autosomal recessive
566393,Acute mast cell leukemia,,Not applicable
79113,Mandibulofacial dysostosis-microcephaly syndrome,Neonatal,Autosomal dominant
79102,Thyrotoxic periodic paralysis,Adult,"Multigenic/multifactorial, Not applicable"
79105,Myxofibrosarcoma,Adult,Not applicable
79099,Interstitial granulomatous dermatitis with arthritis,Adult,Not applicable
79098,Sympathetic ophthalmia,All ages,Not applicable
79101,Hyperprolinemia type 2,All ages,Autosomal recessive
566192,Congenital autosomal recessive small-platelet thrombocytopenia,Neonatal,Autosomal recessive
79100,Atrophoderma vermiculata,Childhood,"Autosomal recessive, Unknown"
79095,Congenital bile acid synthesis defect type 4,All ages,Autosomal recessive
79094,Grange syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
566175,Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome,"Childhood, Infancy",Autosomal recessive
79097,Folinic acid-responsive seizures,"Infancy, Neonatal",Unknown
79096,Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy,"Infancy, Neonatal",Autosomal recessive
79138,Bickerstaff brainstem encephalitis,All ages,Not applicable
79139,Japanese encephalitis,All ages,Not applicable
79140,Cutaneous neuroendocrine carcinoma,"Adult, Elderly",Not applicable
79141,Hereditary painful callosities,No data available,Autosomal dominant
79134,DEND syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
79135,Episodic ataxia type 3,All ages,Autosomal dominant
79136,Episodic ataxia type 4,Adult,Autosomal dominant
79137,Generalized epilepsy-paroxysmal dyskinesia syndrome,Childhood,Autosomal dominant
79129,Trichodysplasia-amelogenesis imperfecta syndrome,"Infancy, Neonatal",X-linked recessive
79133,Focal facial dermal dysplasia type I,"Antenatal, Neonatal",Autosomal dominant
79124,Hepatic veno-occlusive disease-immunodeficiency syndrome,Infancy,Autosomal recessive
566396,Chronic mast cell leukemia,,Not applicable
79126,Acute interstitial pneumonia,Adult,Unknown
79127,Respiratory bronchiolitis-interstitial lung disease syndrome,Adult,Not applicable
79128,Lymphoid interstitial pneumonia,All ages,Not applicable
77293,Chronic visceral acid sphingomyelinase deficiency,Childhood,Autosomal recessive
77295,Odontoleukodystrophy,Infancy,Autosomal recessive
77261,Gaucher disease type 3,All ages,Autosomal recessive
77292,Infantile neurovisceral acid sphingomyelinase deficiency,"Infancy, Neonatal",Autosomal recessive
77298,Anophthalmia/microphthalmia-esophageal atresia syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
77299,Microphthalmia-brain atrophy syndrome,Neonatal,Autosomal recessive
77296,Morgagni-Stewart-Morel syndrome,Adult,"Autosomal dominant, X-linked recessive"
77297,Majeed syndrome,"Childhood, Infancy",Autosomal recessive
567502,B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome,Antenatal,Autosomal dominant
77300,Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,"Antenatal, Infancy, Neonatal",Unknown
77301,Monosomy 9q22.3 syndrome,"Infancy, Neonatal","Not applicable, Unknown"
567550,Idiopathic multidrug-resistant nephrotic syndrome,All ages,
567548,Idiopathic steroid-resistant nephrotic syndrome,"Adolescent, Adult, Childhood",
567546,Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance,All ages,
567544,Idiopathic non-lupus full-house nephropathy,All ages,
567552,Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy,All ages,
567564,Nephrotic syndrome without extrarenal manifestations,All ages,
79083,PPARG-related familial partial lipodystrophy,Adult,Autosomal dominant
79078,IgG4-related dacryoadenitis and sialadenitis,All ages,Not applicable
79076,Juvenile polyposis of infancy,"Infancy, Neonatal","Autosomal dominant, Not applicable"
79087,Acquired partial lipodystrophy,"Adolescent, Adult, Childhood","Multigenic/multifactorial, Not applicable"
79086,Acquired generalized lipodystrophy,All ages,Not applicable
79085,AKT2-related familial partial lipodystrophy,Adult,Autosomal dominant
79084,"Familial partial lipodystrophy, Köbberling type",Childhood,Autosomal dominant
567983,Parenteral nutrition-associated cholestasis,All ages,
79091,Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,"Adolescent, Infancy, Neonatal",Autosomal dominant
79088,Localized lipodystrophy,All ages,Unknown
75327,North Carolina macular dystrophy,Childhood,Autosomal dominant
75373,Progressive bifocal chorioretinal atrophy,"Infancy, Neonatal",Autosomal dominant
75374,Bradyopsia,Childhood,Autosomal recessive
75376,Familial drusen,Adult,Autosomal dominant
75377,Central areolar choroidal dystrophy,Adult,Autosomal dominant
75378,Oligocone trichromacy,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
75381,Cystoid macular dystrophy,Childhood,Autosomal dominant
75382,Oguchi disease,"Infancy, Neonatal",Autosomal recessive
75389,Brain malformation-congenital heart disease-postaxial polydactyly syndrome,"Infancy, Neonatal",Unknown
566841,Liver adenomatosis,"Adult, Elderly",
75391,Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,Childhood,Autosomal recessive
75392,Periodontal Ehlers-Danlos syndrome,Childhood,Autosomal dominant
75496,B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome,Neonatal,Autosomal recessive
75497,X-linked Ehlers-Danlos syndrome,Adolescent,X-linked recessive
75563,X-linked sideroblastic anemia,All ages,X-linked recessive
566943,Mueller-Weiss syndrome,Adult,
75565,Tropical endomyocardial fibrosis,"Adolescent, Adult, Childhood",Not applicable
75564,Acquired idiopathic sideroblastic anemia,Adult,Not applicable
75567,Primary progressive freezing gait,Adult,Unknown
75566,Loeffler endocarditis,"Adolescent, Adult, Childhood",
75857,6q terminal deletion syndrome,"Infancy, Neonatal","Not applicable, Unknown"
75840,Ullrich congenital muscular dystrophy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
77240,Primary lymphedema,All ages,"Autosomal dominant, Autosomal recessive"
75858,MORM syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
77258,Trichorhinophalangeal syndrome type 1,"Infancy, Neonatal",Autosomal dominant
77260,Gaucher disease type 2,Infancy,Autosomal recessive
77259,Gaucher disease type 1,All ages,Autosomal recessive
73271,Bleeding diathesis due to a collagen receptor defect,All ages,"Autosomal dominant, Autosomal recessive"
73263,Zygomycosis,All ages,Not applicable
73267,Non-24-hour sleep-wake syndrome,All ages,Unknown
73256,Central neurocytoma,"Adolescent, Adult, Childhood",Not applicable
73260,Paracoccidioidomycosis,All ages,Not applicable
73246,Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,"Antenatal, Neonatal",Autosomal recessive
569821,Congenital primary lymphedema of Gordon,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
73423,Acute ackee fruit intoxication,All ages,Not applicable
569816,CELSR1-related late-onset primary lymphedema,"Adolescent, Childhood, Infancy, Neonatal",Autosomal dominant
73272,Growth delay due to insulin-like growth factor type 1 deficiency,"Antenatal, Infancy, Neonatal",Autosomal recessive
73273,Growth delay due to insulin-like growth factor I resistance,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
75326,Familial isolated retinal arteriolar tortuosity,Childhood,"Autosomal dominant, Not applicable"
75325,Osteosclerosis-ichthyosis-premature ovarian failure syndrome,"Adolescent, Adult",Unknown
75249,Familial isolated restrictive cardiomyopathy,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
75234,Cholesteryl ester storage disease,"Adolescent, Adult, Childhood",Autosomal recessive
75233,Wolman disease,"Infancy, Neonatal",Autosomal recessive
568065,EPHB4-related lymphatic-related hydrops fetalis,Antenatal,Autosomal dominant
71290,Familial platelet disorder with associated myeloid malignancy,,Autosomal dominant
568062,PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
71493,Familial thrombocytosis,Childhood,"Autosomal dominant, X-linked recessive"
71505,Cancer-associated retinopathy,Adult,Not applicable
568056,Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome,"Infancy, Neonatal",
568051,GJC2-related late-onset primary lymphedema,"Adolescent, Adult, Childhood",Autosomal dominant
71289,Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome,Neonatal,Autosomal dominant
71526,Obesity due to pro-opiomelanocortin deficiency,"Infancy, Neonatal",Autosomal recessive
71528,Obesity due to prohormone convertase I deficiency,"Infancy, Neonatal",Autosomal recessive
71529,Obesity due to melanocortin 4 receptor deficiency,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
569164,Angiomatoid fibrous histiocytoma,"Adolescent, Adult, Childhood",
71517,Rapid-onset dystonia-parkinsonism,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
71518,Benign paroxysmal torticollis of infancy,"Childhood, Infancy, Neonatal","Autosomal dominant, Not applicable, Unknown"
71519,Psychogenic movement disorders,"Adolescent, Adult, Childhood, Elderly",Not applicable
569274,Multiple mitochondrial dysfunctions syndrome type 5,Infancy,Autosomal recessive
569290,Multiple mitochondrial dysfunctions syndrome type 6,Infancy,Autosomal recessive
569248,Microcystic stromal tumor,Adult,
73229,HANAC syndrome,Childhood,Autosomal dominant
73224,Kidney tubulopathy-dilated cardiomyopathy syndrome,Childhood,Autosomal dominant
73245,Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,"Infancy, Neonatal",Unknown
73230,Ossification anomalies-psychomotor developmental delay syndrome,"Infancy, Neonatal",
73217,Müllerian aplasia,"Adolescent, Adult",Autosomal dominant
73014,Intractable diarrhea of infancy,Childhood,
73223,Global developmental delay-osteopenia-ectodermal defect syndrome,Childhood,Unknown
40366,Acitretin/etretinate embryopathy,"Antenatal, Neonatal",Not applicable
40923,Eales disease,"Adolescent, Adult","Multigenic/multifactorial, Not applicable"
39812,Graft versus host disease,All ages,Not applicable
530849,Familial apolipoprotein A5 deficiency,Adult,Autosomal recessive
39041,Omenn syndrome,"Infancy, Neonatal",Autosomal recessive
530838,KRT1-related diffuse nonepidermolytic keratoderma,"Childhood, Infancy",Autosomal dominant
39044,Uveal melanoma,Adult,Not applicable
530792,RELA fusion-positive ependymoma,"Adolescent, Adult, Childhood, Infancy",
38874,Dihydropyrimidinuria,"Childhood, Infancy",Autosomal recessive
37748,Schnitzler syndrome,Adult,Not applicable
530303,Progressive dementia with neuroserpin inclusion bodies,"Adult, Elderly",Autosomal dominant
37612,Episodic ataxia type 1,"Adolescent, Childhood",Autosomal dominant
530298,Progressive myoclonic epilepsy with neuroserpin inclusion bodies,Adult,
37553,Andersen-Tawil syndrome,Childhood,Autosomal dominant
37202,Interstitial cystitis,All ages,Unknown
37042,Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,"Infancy, Neonatal",X-linked recessive
36913,Autoimmune hypoparathyroidism,"Adolescent, Adult, Childhood",Not applicable
36899,Myoclonus-dystonia syndrome,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
531151,9q21.13 microdeletion syndrome,"Childhood, Infancy",Not applicable
530983,Lamb-Shaffer syndrome,Infancy,Autosomal dominant
530995,Mixed phenotype acute leukemia,"Adolescent, Adult, Childhood",
41751,Bietti crystalline dystrophy,"Adolescent, Adult",Autosomal recessive
42062,Iminoglycinuria,All ages,Autosomal recessive
35705,Neurometabolic disorder due to serine deficiency,"Infancy, Neonatal",
35706,Glutaric acidemia type 3,All ages,Autosomal recessive
35704,L-Arginine:glycine amidinotransferase deficiency,Infancy,Autosomal recessive
35710,Glucose-galactose malabsorption,"Infancy, Neonatal",Autosomal recessive
35737,Morning glory disc anomaly,Childhood,
35708,Aromatic L-amino acid decarboxylase deficiency,"Infancy, Neonatal",Autosomal recessive
35689,Primary lateral sclerosis,"Adult, Elderly","Autosomal dominant, Autosomal recessive, Not applicable"
35701,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,Childhood,Autosomal recessive
35698,Mitochondrial DNA depletion syndrome,All ages,
35612,Nanophthalmos,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
35173,X-linked dominant chondrodysplasia punctata,"Antenatal, Infancy, Neonatal",X-linked dominant
35687,Erdheim-Chester disease,Adult,Not applicable
35664,ALDH18A1-related De Barsy syndrome,"Infancy, Neonatal","Autosomal recessive, Not applicable"
35656,Coenzyme Q10 deficiency,All ages,Autosomal recessive
35120,Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,"Infancy, Neonatal",Autosomal recessive
35107,Desmosterolosis,"Antenatal, Infancy, Neonatal",Autosomal recessive
35099,Non-syndromic bicoronal craniosynostosis,"Infancy, Neonatal","Autosomal dominant, Not applicable"
35125,Epidermal nevus syndrome,"Infancy, Neonatal",Not applicable
35122,Congenital sucrase-isomaltase deficiency,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
35121,Lysosomal acid phosphatase deficiency,"Infancy, Neonatal",Autosomal recessive
36387,Genetic epilepsy with febrile seizure plus,Childhood,Autosomal dominant
36388,Paraneoplastic neurologic syndrome,All ages,Not applicable
36397,Adiposis dolorosa,Adult,"Autosomal dominant, Not applicable"
36412,Hypocomplementemic urticarial vasculitis,"Adult, Childhood","Autosomal recessive, Not applicable"
36426,Stevens-Johnson syndrome,All ages,Not applicable
36355,Bleeding disorder due to P2Y12 defect,Childhood,Autosomal recessive
36367,Distal deletion 1q syndrome,Neonatal,
36383,COL4A1/2-related familial vascular leukoencephalopathy,,Autosomal dominant
36386,Hereditary sensory and autonomic neuropathy type 1,All ages,Autosomal dominant
36234,Bacterial toxic-shock syndrome,All ages,Not applicable
36236,Staphylococcal scalded skin syndrome,All ages,
36235,Staphylococcal scarlet fever,All ages,
36238,Staphylococcal necrotizing pneumonia,Childhood,Not applicable
36237,Bullous impetigo,All ages,Not applicable
36273,Gastric linitis plastica,Adult,
36258,Buerger disease,Adult,Not applicable
35808,Malignant sex cord stromal tumor of ovary,All ages,Not applicable
35807,Malignant germ cell tumor of ovary,"Adolescent, Adult, Childhood, Elderly, Infancy",Unknown
35878,Hyperinsulinism-hyperammonemia syndrome,"Infancy, Neonatal",Autosomal dominant
35858,Imerslund-Gräsbeck syndrome,Childhood,Autosomal recessive
35909,Combined deficiency of factor V and factor VIII,All ages,Autosomal recessive
35889,Acute opioid intoxication,All ages,Not applicable
36204,Intestinal lymphangiectasia,All ages,Not applicable
35981,Polymicrogyria,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable, X-linked dominant"
33572,5-oxoprolinase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
33543,Kleine-Levin syndrome,"Adolescent, Adult, Childhood",
33475,Meningococcal meningitis,All ages,Not applicable
33445,Neuroectodermal melanolysosomal disease,Childhood,Autosomal recessive
33408,Bullous lichen planus,Childhood,"Autosomal dominant, Not applicable"
535458,Familial GPIHBP1 deficiency,Adult,Autosomal recessive
33402,Pediatric hepatocellular carcinoma,"Adolescent, Childhood",Not applicable
34217,Naxos disease,"Infancy, Neonatal",Autosomal recessive
34149,Autosomal dominant tubulointerstitial kidney disease,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
33577,Nodular non-suppurative panniculitis,Adult,Not applicable
33574,Glutamate-cysteine ligase deficiency,Infancy,Autosomal recessive
33573,Gamma-glutamyl transpeptidase deficiency,Infancy,Autosomal recessive
33110,Autosomal non-syndromic agammaglobulinemia,All ages,"Autosomal dominant, Autosomal recessive"
33111,Granulomatous slack skin,Adult,Not applicable
33108,Lethal multiple pterygium syndrome,Antenatal,"Autosomal recessive, X-linked recessive"
33067,"Metaphyseal chondrodysplasia, Jansen type","Infancy, Neonatal",Autosomal dominant
33069,Dravet syndrome,"Infancy, Neonatal",Autosomal dominant
33001,Lymphedema-distichiasis syndrome,All ages,Autosomal dominant
33355,Reticular dysgenesis,"Infancy, Neonatal",Autosomal recessive
535453,Familial lipase maturation factor 1 deficiency,Adult,Autosomal recessive
33364,Trichothiodystrophy,"Infancy, Neonatal","Autosomal recessive, X-linked recessive"
33276,Kaposi sarcoma,Adult,Not applicable
33314,Jessner lymphocytic infiltration of the skin,Adult,Not applicable
33208,Idiopathic hypersomnia,All ages,Unknown
33226,Waldenström macroglobulinemia,Elderly,Multigenic/multifactorial
35069,Infantile neuroaxonal dystrophy,"Infancy, Neonatal",Autosomal recessive
35093,Non-syndromic sagittal craniosynostosis,"Infancy, Neonatal","Autosomal dominant, Not applicable"
35078,T-B+ severe combined immunodeficiency due to JAK3 deficiency,"Infancy, Neonatal",Autosomal recessive
35062,Severe disseminated cytomegalovirus infection in immunocompetent patients,All ages,Not applicable
34520,Congenital muscular dystrophy with integrin alpha-7 deficiency,"Infancy, Neonatal",Autosomal recessive
34514,Telethonin-related limb-girdle muscular dystrophy R7,"Adolescent, Childhood, Infancy",Autosomal recessive
34515,FKRP-related limb-girdle muscular dystrophy R9,"Adolescent, Adult, Childhood",Autosomal recessive
34516,DNAJB6-related limb-girdle muscular dystrophy D1,Adult,Autosomal dominant
34587,Danon disease,Childhood,X-linked dominant
34592,Immunodeficiency by defective expression of MHC class I,Childhood,Autosomal recessive
34528,Autosomal dominant primary hypomagnesemia with hypocalciuria,All ages,Autosomal dominant
34533,Corneal dystrophy,All ages,"Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked recessive"
536516,Myopathic Ehlers-Danlos syndrome,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
536471,Spondylodysplastic Ehlers-Danlos syndrome,"Infancy, Neonatal",
536467,B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome,Neonatal,Autosomal recessive
536545,Kyphoscoliotic Ehlers-Danlos syndrome,"Antenatal, Neonatal",
536532,Classical-like Ehlers-Danlos syndrome type 2,"Infancy, Neonatal",Autosomal recessive
537072,PLG-related hereditary angioedema with normal C1Inh,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
32960,Tumor necrosis factor receptor 1 associated periodic syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
52530,Pseudo-von Willebrand disease,Adult,Autosomal dominant
52688,Myelodysplastic syndrome,All ages,
52429,Branchiootic syndrome,Neonatal,Autosomal dominant
538096,Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy,Antenatal,Autosomal recessive
52503,X-linked creatine transporter deficiency,"Childhood, Infancy","Not applicable, X-linked recessive"
538101,Congenital axonal neuropathy with encephalopathy,Neonatal,
52430,Inclusion body myopathy with Paget disease of bone and frontotemporal dementia,Adult,Autosomal dominant
52416,Mantle cell lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
52427,Retinitis punctata albescens,Childhood,"Autosomal dominant, Autosomal recessive"
52417,MALT lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
52056,Ulnar/fibula ray defect-brachydactyly syndrome,"Infancy, Neonatal",Autosomal dominant
52055,Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,"Infancy, Neonatal",X-linked recessive
52368,Mohr-Tranebjaerg syndrome,Childhood,X-linked recessive
53271,Muenke syndrome,"Antenatal, Neonatal",Autosomal dominant
53296,Familial cutaneous collagenoma,Adolescent,Autosomal dominant
53347,Brody myopathy,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive"
52994,Orbital leiomyoma,Adult,Unknown
53035,Caroli disease,All ages,"Autosomal recessive, Not applicable"
52901,Isolated follicle stimulating hormone deficiency,"Adolescent, Adult",Autosomal recessive
53690,Congenital lactase deficiency,,Autosomal recessive
53689,Congenital chloride diarrhea,"Infancy, Neonatal",Autosomal recessive
538863,Classic pyoderma gangrenosum,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
538756,Familial multiple discoid fibromas,"Adolescent, Adult, Childhood, Infancy, Neonatal",
538574,Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,"Childhood, Infancy, Neonatal",
53583,Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity,Childhood,Autosomal dominant
53540,Goldmann-Favre syndrome,"Adolescent, Childhood",Autosomal recessive
53372,Hereditary geniospasm,Childhood,Autosomal dominant
53351,X-linked dystonia-parkinsonism,Adult,"Not applicable, X-linked recessive"
54260,Left ventricular noncompaction,All ages,"Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive"
54247,Posterior cortical atrophy,Adult,Unknown
538934,X-linked lymphoproliferative disease due to XIAP deficiency,"Adolescent, Adult, Childhood, Infancy",X-linked recessive
54251,Aseptic abscess syndrome,"Adolescent, Adult",Not applicable
538931,X-linked lymphoproliferative disease due to SAP deficiency,"Adolescent, Adult, Childhood, Infancy",X-linked recessive
54057,Thrombotic thrombocytopenic purpura,All ages,"Autosomal recessive, Multigenic/multifactorial"
54028,Plummer-Vinson syndrome,Adult,Unknown
53721,Spinal arteriovenous metameric syndrome,All ages,Not applicable
53698,Myosin storage myopathy,,"Autosomal dominant, Autosomal recessive"
53715,Familial tumoral calcinosis,Childhood,Autosomal recessive
53696,Arthrogryposis-anterior horn cell disease syndrome,Antenatal,Autosomal recessive
538872,Vegetative pyoderma gangrenosum,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
53697,Gnathodiaphyseal dysplasia,"Adolescent, Childhood, Infancy",Autosomal dominant
53691,Congenital cornea plana,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
538869,Bullous pyoderma gangrenosum,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
538866,Pustular pyoderma gangrenosum,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
53693,GRACILE syndrome,"Antenatal, Neonatal",Autosomal recessive
48818,Aceruloplasminemia,"Adult, Elderly",Autosomal recessive
49041,IgG4-related retroperitoneal fibrosis,Adult,"Not applicable, Unknown"
48918,Focal myositis,Adult,Not applicable
49382,Achromatopsia,"Infancy, Neonatal",Autosomal recessive
49042,Dentinogenesis imperfecta,Childhood,Autosomal dominant
538958,EBV-induced lymphoproliferative disease due to CD70 deficiency,"Childhood, Infancy",Autosomal recessive
48431,Congenital cataracts-facial dysmorphism-neuropathy syndrome,"Infancy, Neonatal",Autosomal recessive
538963,Combined immunodeficiency due to ITK deficiency,"Adolescent, Childhood",Autosomal recessive
48471,Lissencephaly,"Infancy, Neonatal",
48435,Postinfectious vasculitis,All ages,Not applicable
48686,Primary effusion lymphoma,Adult,
48652,Phelan-McDermid syndrome,"Infancy, Neonatal","Not applicable, Unknown"
50809,Talo-patello-scaphoid osteolysis,Childhood,Autosomal recessive
50810,Microlissencephaly-micromelia syndrome,"Infancy, Neonatal",Autosomal recessive
50811,Lipodystrophy-intellectual disability-deafness syndrome,Childhood,Autosomal recessive
50812,Zellweger-like syndrome without peroxisomal anomalies,Childhood,"Autosomal recessive, Mitochondrial inheritance"
50814,Craniolenticulosutural dysplasia,"Infancy, Neonatal",Autosomal recessive
50815,Branchiogenic deafness syndrome,"Antenatal, Neonatal",Autosomal dominant
49566,Acquired purpura fulminans,"Adult, Childhood, Infancy, Neonatal",Not applicable
49804,Lichen amyloidosis,"Adolescent, Adult",
49827,Thiamine-responsive megaloblastic anemia syndrome,Childhood,Autosomal recessive
50251,Pleural mesothelioma,All ages,Not applicable
50945,Blomstrand lethal chondrodysplasia,"Antenatal, Neonatal",Autosomal recessive
50944,Schöpf-Schulz-Passarge syndrome,"Adolescent, Childhood","Autosomal dominant, Autosomal recessive"
51083,Congenital short QT syndrome,All ages,Autosomal dominant
50839,Cat-scratch disease,All ages,Not applicable
50943,Keratolytic winter erythema,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
50942,Striate palmoplantar keratoderma,"Infancy, Neonatal",Autosomal dominant
50918,Kikuchi-Fujimoto disease,"Adolescent, Adult, Childhood, Infancy",
52054,Craniosynostosis-intracranial calcifications syndrome,"Infancy, Neonatal",Autosomal recessive
52022,Potocki-Shaffer syndrome,"Infancy, Neonatal",Unknown
52047,Braddock syndrome,Neonatal,Autosomal recessive
51577,Cobblestone lissencephaly,"Infancy, Neonatal",Autosomal recessive
51608,Generalized arterial calcification of infancy,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
51188,Ethylmalonic encephalopathy,"Infancy, Neonatal",Autosomal recessive
541423,Growth delay-intellectual disability-hepatopathy syndrome,"Infancy, Neonatal",Autosomal recessive
51208,Formiminoglutamic aciduria,Childhood,Autosomal recessive
51636,WHIM syndrome,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive, Not applicable"
51890,Anterior cutaneous nerve entrapment syndrome,All ages,Not applicable
542306,GNB5-related intellectual disability-cardiac arrhythmia syndrome,"Childhood, Infancy",Autosomal recessive
542301,EBV-induced lymphoproliferative disease due to CARMIL2 deficiency,Childhood,Autosomal recessive
542310,Leukoencephalopathy with calcifications and cysts,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
42642,PFAPA syndrome,"Childhood, Infancy",Unknown
42665,Tietz syndrome,Neonatal,Autosomal dominant
542323,CAR T cell therapy-associated cytokine release syndrome,Adult,
43117,Acute tricyclic antidepressant poisoning,All ages,Not applicable
542585,Auditory neuropathy-optic atrophy syndrome,"Adolescent, Childhood, Infancy",Autosomal recessive
43116,Serotonin syndrome,All ages,Not applicable
542592,Necrobiosis lipoidica,"Adolescent, Adult, Childhood, Elderly",
43393,Lambert-Eaton myasthenic syndrome,Adult,Not applicable
43119,Acute poisoning by drugs with membrane-stabilizing effect,All ages,Not applicable
542643,Livedoid vasculopathy,"Adolescent, Adult",
42775,PHACE syndrome,"Antenatal, Infancy, Neonatal",Unknown
42738,Severe congenital neutropenia,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
43115,Hereditary myopathy with lactic acidosis due to ISCU deficiency,Childhood,Autosomal recessive
45448,Miyoshi myopathy,Adult,Autosomal recessive
543470,Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,"Adolescent, Childhood, Infancy",Autosomal recessive
45453,Incessant infant ventricular tachycardia,"Childhood, Infancy",Not applicable
45452,Idiopathic neonatal atrial flutter,"Infancy, Neonatal",Not applicable
542657,Isolated hyperchlorhidrosis,Infancy,Autosomal recessive
44890,Gastrointestinal stromal tumor,"Adolescent, Adult, Childhood","Autosomal dominant, Not applicable"
45358,Congenital fibrosis of extraocular muscles,Neonatal,"Autosomal dominant, Autosomal recessive, Not applicable"
46487,Epidermolysis bullosa acquisita,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
544254,SYNGAP1-related developmental and epileptic encephalopathy,Infancy,Autosomal dominant
46488,Linear IgA dermatosis,All ages,Not applicable
46485,Superficial pemphigus,All ages,Not applicable
46486,Mucous membrane pemphigoid,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
46348,Paroxysmal extreme pain disorder,"Infancy, Neonatal",Autosomal dominant
46484,Oligodendroglial tumor,Adult,"Multigenic/multifactorial, Not applicable"
46059,Lathosterolosis,Neonatal,Autosomal recessive
46135,Primary central nervous system lymphoma,"Adult, Elderly",Not applicable
47044,Hereditary papillary renal cell carcinoma,Adult,Autosomal dominant
46724,Brain arteriovenous malformation,All ages,No data available
46627,Char syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
46532,Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,Childhood,Autosomal dominant
48372,Nodular regenerative hyperplasia of the liver,Adult,Not applicable
48162,Lewis-Sumner syndrome,All ages,Not applicable
544493,Streptococcus pneumoniae-associated hemolytic uremic syndrome,All ages,
48104,Pyoderma gangrenosum,"Adolescent, Adult, Childhood, Elderly",Unknown
544503,RNF13-related severe early-onset epileptic encephalopathy,Neonatal,Autosomal dominant
47612,Felty syndrome,Adult,Unknown
544482,Infection-related hemolytic uremic syndrome,All ages,Not applicable
47159,Proximal renal tubular acidosis,All ages,"Autosomal dominant, Autosomal recessive, Not applicable"
544488,Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,"Antenatal, Neonatal",Autosomal dominant
544469,PRUNE1-related neurological syndrome,"Infancy, Neonatal",Autosomal recessive
544472,Atypical hemolytic uremic syndrome with complement gene abnormality,All ages,
47045,Familial cold urticaria,"Adolescent, Childhood, Infancy",Autosomal dominant
544628,Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,Neonatal,Autosomal dominant
544602,Congenital myopathy with reduced type 2 muscle fibers,"Antenatal, Neonatal",Autosomal recessive
48377,Subcorneal pustular dermatosis,Adult,Not applicable
544578,"Congenital primary megaureter, refluxing and obstructed form","Infancy, Neonatal",
555402,NAD(P)HX dehydratase deficiency,"Childhood, Infancy",Autosomal recessive
555434,Fibrohistiocytic inflammatory pseudotumor of the liver,"Adult, Elderly",
555407,NAD(P)HX epimerase deficiency,Infancy,Autosomal recessive
555437,Lymphoplasmacytic inflammatory pseudotumor of the liver,"Adult, Elderly",
555874,Congenital tricuspid valve dysplasia,"Antenatal, Neonatal",
555877,FLNA-related X-linked myxomatous valvular dysplasia,Neonatal,X-linked recessive
555905,IgA pemphigus,All ages,
556030,Early-onset familial hypoaldosteronism,"Adolescent, Childhood, Infancy, Neonatal",Autosomal recessive
556037,Late-onset familial hypoaldosteronism,"Adult, Elderly",
556985,Early-onset calcifying leukoencephalopathy-skeletal dysplasia,"Adolescent, Antenatal, Childhood",Autosomal recessive
556955,Pancreatic agenesis-holoprosencephaly syndrome,Antenatal,Autosomal dominant
557064,Neonatal epileptic encephalopathy due to glutaminase deficiency,Neonatal,Autosomal recessive
557056,Spastic ataxia-dysarthria due to glutaminase deficiency,Childhood,Autosomal dominant
557003,Oculoskeletodental syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
90065,Acquired aneurysmal subarachnoid hemorrhage,All ages,Not applicable
90066,Pneumonia caused by Pseudomonas aeruginosa infection,All ages,Not applicable
90068,Cocaine intoxication,All ages,Not applicable
519384,Congenital cystic eye,Antenatal,
90062,Acute liver failure,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
519388,Autosomal recessive anterior segment dysgenesis,"Adolescent, Adult, Childhood",Autosomal recessive
90064,Acute peripheral arterial occlusion,All ages,Not applicable
90073,Hepatitis B reinfection following liver transplantation,All ages,Not applicable
90076,Partial deep dermal and full thickness burns,All ages,Not applicable
90069,Systemic monochloroacetate poisoning,All ages,
90050,Retinopathy of prematurity,"Infancy, Neonatal",Not applicable
90045,Hereditary folate malabsorption,"Infancy, Neonatal",Autosomal recessive
90052,Recurrent hepatitis C virus induced liver disease in liver transplant recipients,All ages,Not applicable
90051,Sepsis in premature infants,Neonatal,Not applicable
90041,Gaisböck syndrome,Adult,
90039,Hemoglobin D disease,Childhood,Autosomal recessive
90044,Familial pseudohyperkalemia,All ages,Autosomal dominant
90042,Primary familial polycythemia,All ages,Autosomal dominant
90058,Spinal cord injury,All ages,Not applicable
90060,Diffuse alveolar hemorrhage,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
90059,Sudden sensorineural hearing loss,All ages,Not applicable
90053,Complications after hematopoietic stem cell transplantation,All ages,Not applicable
90056,Moderate and severe traumatic brain injury,All ages,Not applicable
90024,"Deafness with labyrinthine aplasia, microtia, and microdontia","Infancy, Neonatal",Autosomal recessive
90023,Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency,"Infancy, Neonatal",Autosomal recessive
90003,Inflammatory pseudotumor of the liver,All ages,Not applicable
90037,Drug-induced autoimmune hemolytic anemia,All ages,Multigenic/multifactorial
90038,Shiga toxin-associated hemolytic uremic syndrome,All ages,Not applicable
90035,Paroxysmal cold hemoglobinuria,Childhood,Multigenic/multifactorial
90036,Mixed-type autoimmune hemolytic anemia,All ages,Multigenic/multifactorial
90031,Non-spherocytic hemolytic anemia due to hexokinase deficiency,Infancy,Autosomal recessive
90033,"Autoimmune hemolytic anemia, warm type",All ages,Multigenic/multifactorial
90026,Primary erythromelalgia,All ages,Autosomal dominant
90030,Hemolytic anemia due to glutathione reductase deficiency,No data available,Autosomal recessive
89936,X-linked hypophosphatemia,"Childhood, Infancy",X-linked dominant
89844,"Lissencephaly syndrome, Norman-Roberts type","Infancy, Neonatal",Autosomal recessive
89843,Dystrophic epidermolysis bullosa pruriginosa,Childhood,"Autosomal dominant, Autosomal recessive"
89842,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form",Neonatal,Autosomal recessive
90001,X-linked cone dysfunction syndrome with myopia,Childhood,X-linked recessive
90000,Erythema elevatum diutinum,All ages,Unknown
89938,Bartter syndrome type 4,Antenatal,Autosomal recessive
89937,Autosomal dominant hypophosphatemic rickets,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
90340,Blau syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
90342,Xeroderma pigmentosum variant,"Adolescent, Adult",Autosomal recessive
90348,Autosomal dominant cutis laxa,"Infancy, Neonatal",Autosomal dominant
90349,Autosomal recessive cutis laxa type 1,"Infancy, Neonatal",Autosomal recessive
90350,Autosomal recessive cutis laxa type 2,"Infancy, Neonatal",Autosomal recessive
90354,Brittle cornea syndrome,"Infancy, Neonatal",Autosomal recessive
90362,Primary intestinal lymphangiectasia,All ages,
90363,Secondary intestinal lymphangiectasia,"Adult, Elderly",
90289,Localized scleroderma,All ages,Not applicable
90301,Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,Adult,
90291,Systemic sclerosis,Adult,"Multigenic/multifactorial, Not applicable"
90308,Capillary-lymphatic-venous malformation with segmental distribution,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
90307,Parkes Weber syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
90322,Cockayne syndrome type 2,"Antenatal, Infancy, Neonatal",Autosomal recessive
90321,Cockayne syndrome type 1,"Antenatal, Infancy, Neonatal",Autosomal recessive
90324,Cockayne syndrome type 3,"Antenatal, Infancy, Neonatal",Autosomal recessive
90156,Centrifugal lipodystrophy,"Adolescent, Adult, Childhood, Elderly, Infancy",
90157,Drug-induced localized lipodystrophy,All ages,
90153,Mandibuloacral dysplasia with type A lipodystrophy,"Infancy, Neonatal",Autosomal recessive
90154,Mandibuloacral dysplasia with type B lipodystrophy,"Infancy, Neonatal",Autosomal recessive
90160,Pressure-induced localized lipoatrophy,"Adult, Elderly",
90158,Idiopathic localized lipodystrophy,"Adolescent, Adult, Childhood, Infancy",
90159,Panniculitis-induced localized lipodystrophy,All ages,
90280,Chilblain lupus,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
90281,Discoid lupus erythematosus,"Adolescent, Adult, Childhood, Elderly",
90186,Meige disease,"Adolescent, Childhood",Not applicable
90285,Lupus erythematosus panniculitis,"Adolescent, Adult, Childhood, Elderly, Infancy",
90283,Lupus erythematosus tumidus,"Adolescent, Adult, Childhood, Elderly",
90080,Scarring in glaucoma filtration surgical procedures,All ages,Not applicable
90078,Invasive infections due to vancomycin-resistant enterococci,All ages,
90103,Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,Infancy,Autosomal recessive
514980,ATP13A2-related parkinsonism,"Adolescent, Childhood",
90081,AIDS wasting syndrome,All ages,Not applicable
90118,Severe early-onset axonal neuropathy due to MFN2 deficiency,Childhood,Autosomal recessive
90117,"Hereditary motor and sensory neuropathy, Okinawa type",Adult,Autosomal dominant
90114,Autosomal dominant intermediate Charcot-Marie-Tooth disease,"Adolescent, Adult, Childhood",Autosomal dominant
90120,Hereditary motor and sensory neuropathy type 6,All ages,"Autosomal dominant, Autosomal recessive"
90119,Hereditary motor and sensory neuropathy with acrodystrophy,,Autosomal recessive
525677,Genetic congenital malformation of the eye with glaucoma as a major feature,Neonatal,
525731,Pediatric-onset Graves disease,"Adolescent, Childhood, Infancy",
523000,Pediatric-onset glaucoma,"Adolescent, Childhood, Infancy, Neonatal",
88673,Hepatocellular carcinoma,All ages,Not applicable
88644,"Autosomal recessive ataxia, Beauce type","Adult, Childhood, Neonatal",Autosomal recessive
88659,Autosomal dominant progressive nephropathy with hypertension,Adult,Autosomal dominant
88661,Amelogenesis imperfecta,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked dominant"
88637,Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
88639,Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency,Infancy,Autosomal recessive
88642,Congenital insensitivity to pain-anosmia-neuropathic arthropathy,Neonatal,"Autosomal dominant, Autosomal recessive"
88643,Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,"Infancy, Neonatal",Unknown
88632,Anterior segment developmental anomaly,Neonatal,Autosomal dominant
88635,Vacuolar myopathy with sarcoplasmic reticulum protein aggregates,Adult,"Autosomal dominant, Unknown"
88621,Ichthyosis-prematurity syndrome,"Infancy, Neonatal",Autosomal recessive
88628,Posterior column ataxia-retinitis pigmentosa syndrome,Childhood,Autosomal recessive
88629,Tritanopia,"Infancy, Neonatal",Autosomal dominant
88630,Terminal osseous dysplasia-pigmentary defects syndrome,"Infancy, Neonatal",X-linked dominant
88620,Isolated congenital anosmia,"Infancy, Neonatal","Autosomal dominant, X-linked recessive"
88619,Familial acute necrotizing encephalopathy,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
88618,S-adenosylhomocysteine hydrolase deficiency,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
88616,Autosomal recessive non-syndromic intellectual disability,"Childhood, Infancy",Autosomal recessive
87884,Rare non-syndromic genetic deafness,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
87876,Sialidosis type 2,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
87503,Mal de Meleda,"Childhood, Infancy",Autosomal recessive
86920,Dermatopathia pigmentosa reticularis,"Infancy, Neonatal",Autosomal dominant
86919,Keratosis palmaris et plantaris-clinodactyly syndrome,Neonatal,Autosomal dominant
86918,Diffuse palmoplantar keratoderma-acrocyanosis syndrome,"Infancy, Neonatal",Autosomal dominant
86915,Lymphedema-atrial septal defects-facial changes syndrome,"Infancy, Neonatal",Autosomal recessive
522077,Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,Infancy,Autosomal dominant
86913,Myoclonic epilepsy in non-progressive encephalopathies,"Childhood, Infancy",
86914,Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome,Adolescent,
86909,Myoclonic epilepsy of infancy,Infancy,Autosomal recessive
86911,Epilepsy with myoclonic absences,"Adolescent, Childhood, Infancy",Multigenic/multifactorial
521450,LAMA5-related multisystemic syndrome,"Infancy, Neonatal",Autosomal dominant
521445,Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome,"Infancy, Neonatal",Autosomal dominant
521438,Congenital vertebral-cardiac-renal anomalies syndrome,Neonatal,Autosomal recessive
86900,Interdigitating dendritic cell sarcoma,Adult,
521432,Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,Neonatal,Autosomal recessive
86902,Follicular dendritic cell sarcoma,All ages,
521426,PLAA-associated neurodevelopmental disorder,"Infancy, Neonatal",Autosomal recessive
86896,Histiocytic sarcoma,Adult,
521414,Autosomal dominant Charcot-Marie-Tooth disease type 2DD,"Adolescent, Adult, Childhood",Autosomal dominant
86897,Langerhans cell sarcoma,All ages,
521258,Xq25 microduplication syndrome,"Childhood, Infancy",
521305,Proximal myopathy with focal depletion of mitochondria,"Adolescent, Adult, Childhood",Mitochondrial inheritance
521308,Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome,"Infancy, Neonatal",
521390,Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome,"Antenatal, Neonatal",Autosomal dominant
521406,Dystonia-parkinsonism-hypermanganesemia syndrome,Infancy,Autosomal recessive
89838,Autosomal recessive generalized epidermolysis bullosa simplex,"Infancy, Neonatal",Autosomal recessive
521411,Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect,"Adolescent, Infancy",Autosomal recessive
521219,Mirizzi syndrome,"Adult, Elderly",
88949,MUC1-related autosomal dominant tubulointerstitial kidney disease,Adult,Autosomal dominant
88950,UMOD-related autosomal dominant tubulointerstitial kidney disease,"Adolescent, Adult",Autosomal dominant
88940,Pseudohypoaldosteronism type 2C,,Autosomal dominant
88939,Pseudohypoaldosteronism type 2B,,Autosomal dominant
88924,Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,"Adolescent, Childhood, Infancy",Autosomal dominant
88918,Autosomal dominant Alport syndrome,Childhood,Autosomal dominant
88919,Autosomal recessive Alport syndrome,Childhood,Autosomal recessive
88917,X-linked Alport syndrome,Childhood,X-linked dominant
93256,Fragile X-associated tremor/ataxia syndrome,Adult,X-linked dominant
528105,Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
528091,Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,Neonatal,
528084,Non-specific syndromic intellectual disability,"Childhood, Infancy","Autosomal dominant, Autosomal recessive, X-linked recessive"
93262,Crouzon syndrome-acanthosis nigricans syndrome,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
93260,Pfeiffer syndrome type 3,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
93259,Pfeiffer syndrome type 2,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
93258,Pfeiffer syndrome type 1,"Antenatal, Neonatal","Autosomal dominant, Not applicable"
93271,"Short rib-polydactyly syndrome, Verma-Naumoff type","Antenatal, Neonatal",Autosomal recessive
93269,"Short rib-polydactyly syndrome, Majewski type","Antenatal, Neonatal",Autosomal recessive
93270,"Short rib-polydactyly syndrome, Saldino-Noonan type",Neonatal,Autosomal recessive
93267,Cloverleaf skull-multiple congenital anomalies syndrome,"Antenatal, Neonatal",Autosomal recessive
93268,"Short rib-polydactyly syndrome, Beemer-Langer type","Antenatal, Neonatal",Autosomal recessive
93282,"Spondyloepimetaphyseal dysplasia, PAPSS2 type","Infancy, Neonatal",Autosomal recessive
93283,"Spondyloepiphyseal dysplasia, Kimberley type","Infancy, Neonatal",Autosomal dominant
93279,Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,"Adolescent, Adult, Childhood",Autosomal dominant
93276,Polyostotic fibrous dysplasia,,Unknown
93277,Monostotic fibrous dysplasia,,Not applicable
93274,Thanatophoric dysplasia type 2,"Infancy, Neonatal","Autosomal dominant, Not applicable"
93108,Renal dysplasia,"All ages, Antenatal","Autosomal dominant, Not applicable"
527497,NKX6-2-related autosomal recessive hypomyelinating leukodystrophy,"Childhood, Infancy",Autosomal recessive
93101,Renal hypoplasia,All ages,"Autosomal dominant, Not applicable"
93110,Posterior urethral valve,All ages,"Autosomal recessive, Not applicable, X-linked recessive"
93109,Congenital megacalycosis,All ages,Unknown
527450,Severe myopia-generalized joint laxity-short stature syndrome,Neonatal,Autosomal recessive
91547,Relapsing fever,All ages,Not applicable
93100,"Renal agenesis, unilateral","All ages, Antenatal",Autosomal dominant
527468,Diaphragmatic hernia-short bowel-asplenia syndrome,Antenatal,Autosomal recessive
92050,Congenital tufting enteropathy,"Infancy, Neonatal",Autosomal recessive
93160,Hypocalcemic vitamin D-resistant rickets,"Infancy, Neonatal",Autosomal recessive
93164,Transient pseudohypoaldosteronism,Infancy,Not applicable
93114,Autosomal dominant intermediate Charcot-Marie-Tooth disease type E,No data available,"Autosomal dominant, Not applicable"
93111,HNF1B-related autosomal dominant tubulointerstitial kidney disease,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
93126,Pauci-immune glomerulonephritis,"Adolescent, Adult, Childhood, Elderly",Not applicable
93172,"Renal dysplasia, unilateral",All ages,"Autosomal dominant, Not applicable"
93173,"Renal dysplasia, bilateral",All ages,"Autosomal dominant, Not applicable"
93322,Isolated tibial hemimelia,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
93321,Isolated radial hemimelia,"Antenatal, Infancy, Neonatal","Multigenic/multifactorial, X-linked recessive"
93320,Isolated ulnar hemimelia,"Infancy, Neonatal",
93325,Autosomal dominant Kenny-Caffey syndrome,Childhood,Autosomal dominant
93324,Autosomal recessive Kenny-Caffey syndrome,Childhood,Autosomal recessive
93323,Isolated fibular hemimelia,Antenatal,Not applicable
93329,Autosomal recessive omodysplasia,"Infancy, Neonatal",Autosomal recessive
93328,Autosomal dominant omodysplasia,"Infancy, Neonatal",Autosomal dominant
93336,Polydactyly of a triphalangeal thumb,,Autosomal dominant
93335,Postaxial polydactyly type B,Antenatal,Autosomal dominant
93334,Postaxial polydactyly type A,Antenatal,Autosomal recessive
93333,Pelviscapular dysplasia,"Infancy, Neonatal",Autosomal recessive
93339,Polydactyly of a biphalangeal thumb and/or hallux,"Infancy, Neonatal",Autosomal dominant
93337,Polydactyly of an index finger,"Infancy, Neonatal",Autosomal dominant
527276,Encephalopathy due to mitochondrial and peroxisomal fission defect,"Childhood, Infancy, Neonatal",
93338,Polysyndactyly,"Infancy, Neonatal",Autosomal dominant
93349,X-linked spondyloepimetaphyseal dysplasia,,X-linked recessive
93346,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type","Infancy, Neonatal",Autosomal dominant
93347,Anauxetic dysplasia,"Antenatal, Neonatal",Autosomal recessive
93356,"Spondyloepimetaphyseal dysplasia, Missouri type","Childhood, Infancy",Autosomal dominant
93351,"Spondyloepimetaphyseal dysplasia, Irapa type",Childhood,Autosomal recessive
93352,"Spondyloepimetaphyseal dysplasia, Shohat type","Antenatal, Infancy, Neonatal",Autosomal recessive
93284,Spondyloepiphyseal dysplasia tarda,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive, X-linked recessive"
93292,Adenoma of pancreas,"Adult, Elderly",
93293,Okihiro syndrome,Neonatal,Autosomal dominant
93296,Achondrogenesis type 2,"Antenatal, Neonatal",Autosomal dominant
93298,Achondrogenesis type 1B,"Antenatal, Neonatal",Autosomal recessive
93297,Hypochondrogenesis,"Infancy, Neonatal",Autosomal dominant
93299,Achondrogenesis type 1A,"Antenatal, Neonatal",Autosomal recessive
93302,"Brachyolmia, Maroteaux type",Childhood,Autosomal recessive
93304,Autosomal dominant brachyolmia,Childhood,Autosomal dominant
93307,Multiple epiphyseal dysplasia type 4,Childhood,Autosomal recessive
93308,Multiple epiphyseal dysplasia type 1,Childhood,Autosomal dominant
93311,Multiple epiphyseal dysplasia type 5,Childhood,Autosomal dominant
93314,"Spondylometaphyseal dysplasia, Kozlowski type",Infancy,Autosomal dominant
93315,"Spondylometaphyseal dysplasia, 'corner fracture' type","Childhood, Infancy, Neonatal",Autosomal dominant
93316,"Spondylometaphyseal dysplasia, Schmidt type","Adolescent, Childhood, Infancy",Autosomal dominant
93317,"Spondylometaphyseal dysplasia, Sedaghatian type","Antenatal, Neonatal",Autosomal recessive
529962,17q24.2 microdeletion syndrome,"Antenatal, Neonatal",Not applicable
529864,Secondary erythromelalgia,All ages,
529852,Combined hepatocellular carcinoma and cholangiocarcinoma,"Adult, Elderly",
90673,Hypothyroidism due to TSH receptor mutations,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
90674,Isolated thyroid-stimulating hormone deficiency,"Infancy, Neonatal",Autosomal recessive
529831,Letrozole toxicity,All ages,
529808,Chronic bilirubin encephalopathy,"Infancy, Neonatal",Not applicable
90658,Charcot-Marie-Tooth disease type 1E,"Childhood, Infancy",Autosomal dominant
529799,Acute bilirubin encephalopathy,Neonatal,
90791,Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,"Infancy, Neonatal",Autosomal recessive
90790,Congenital lipoid adrenal hyperplasia due to STAR deficency,"Childhood, Infancy, Neonatal",Autosomal recessive
529980,Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome,Infancy,
530033,Dermoid or epidermoid cyst of the central nervous system,Adult,
529977,Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,"Infancy, Neonatal",Autosomal recessive
90695,Non-acquired panhypopituitarism,All ages,"Autosomal recessive, X-linked recessive"
529965,Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome,Infancy,Autosomal dominant
529970,Male infertility due to acephalic spermatozoa,Adult,Autosomal recessive
90400,Scleromyxedema without monoclonal gammopathy,"Adolescent, Adult, Elderly",
90625,Rare X-linked non-syndromic sensorineural deafness type DFN,"Childhood, Infancy",X-linked recessive
90635,Rare autosomal dominant non-syndromic sensorineural deafness type DFNA,Childhood,Autosomal dominant
90636,Rare autosomal recessive non-syndromic sensorineural deafness type DFNB,"Infancy, Neonatal",Autosomal recessive
529468,Monoclonal mast cell activation syndrome,All ages,
90397,Self-healing papular mucinosis,All ages,
529574,Duane retraction syndrome with congenital deafness,Neonatal,Autosomal dominant
90398,Localized lichen myxedematosus with mixed features of different subtypes,"Adult, Elderly",
90399,Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,"Adult, Elderly",
90368,Hypotrichosis simplex of the scalp,Childhood,Autosomal dominant
90389,Telangiectasia macularis eruptiva perstans,,Unknown
90390,Anonychia-onychodystrophy syndrome,,"Autosomal dominant, Autosomal recessive"
90653,Stickler syndrome type 1,"Childhood, Infancy, Neonatal",Autosomal dominant
90652,Otopalatodigital syndrome type 2,"Antenatal, Neonatal",X-linked dominant
90654,Stickler syndrome type 2,"Childhood, Infancy, Neonatal",Autosomal dominant
529665,Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome,Infancy,Autosomal recessive
90647,Jervell and Lange-Nielsen syndrome,Neonatal,Autosomal recessive
90650,Otopalatodigital syndrome type 1,"Antenatal, Infancy, Neonatal",X-linked dominant
90646,Deafness-hypogonadism syndrome,"Infancy, Neonatal",
90641,Rare mitochondrial non-syndromic sensorineural deafness,"Childhood, Infancy",Mitochondrial inheritance
91387,Familial thoracic aortic aneurysm and aortic dissection,"Adolescent, Adult, Childhood",Autosomal dominant
91396,Isolated cryptophthalmia,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
91378,Hereditary angioedema,All ages,Autosomal dominant
91385,Acquired angioedema,Adult,Not applicable
91412,Marcus-Gunn syndrome,"Infancy, Neonatal",Autosomal dominant
91397,Isolated ankyloblepharon filiforme adnatum,"Infancy, Neonatal","Autosomal dominant, Not applicable"
91411,Congenital ptosis,"Infancy, Neonatal","Autosomal dominant, X-linked recessive"
91354,Pituitary deficiency due to empty sella turcica syndrome,"Adult, Elderly",
91355,Sheehan syndrome,Adult,
91359,Chronic pneumonitis of infancy,"Infancy, Neonatal",Not applicable
91496,Snowflake vitreoretinal degeneration,Adult,Autosomal dominant
91495,Persistent hyperplastic primary vitreous,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
91494,Macular coloboma-cleft palate-hallux valgus syndrome,Neonatal,Autosomal recessive
91492,Early onset non-syndromic cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
91546,Lyme disease,All ages,Not applicable
91500,Tubulointerstitial nephritis and uveitis syndrome,"Adolescent, Adult, Childhood, Elderly",Multigenic/multifactorial
91498,Familial congenital palsy of trochlear nerve,Neonatal,
91481,Ring dermoid of cornea,"Infancy, Neonatal",Autosomal dominant
91416,Isolated congenital alacrima,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
91414,Pilomatrixoma,"Adolescent, Adult, Childhood",Not applicable
91491,Congenital ectropion uveae,Neonatal,
91490,Isolated congenital sclerocornea,,Autosomal dominant
91489,Isolated congenital megalocornea,,X-linked recessive
91483,Rieger anomaly,Neonatal,Autosomal dominant
91127,Adenovirus infection in immunocompromised patients,All ages,Not applicable
91130,Cardiomyopathy-hypotonia-lactic acidosis syndrome,Neonatal,Autosomal recessive
91131,DK1-CDG,"Infancy, Neonatal",Autosomal recessive
91132,Ichthyosis-hypotrichosis syndrome,"Infancy, Neonatal",Autosomal recessive
90793,Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,"Infancy, Neonatal",Autosomal recessive
90794,Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,"Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
90795,Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,"Infancy, Neonatal",Autosomal recessive
90796,"46,XY difference of sex development due to isolated 17,20-lyase deficiency",Neonatal,Autosomal recessive
90797,Partial androgen insensitivity syndrome,All ages,X-linked recessive
90970,Primary lipodystrophy,All ages,
91024,Autosomal recessive axonal hereditary motor and sensory neuropathy,,Autosomal recessive
91347,TSH-secreting pituitary adenoma,"Adolescent, Adult, Childhood, Elderly",
91349,Non-functioning pituitary adenoma,"Adolescent, Adult, Childhood",Not applicable
91348,Functioning gonadotropic adenoma,Adult,
91351,Pituitary dermoid and epidermoid cysts,"Adult, Elderly",
91350,Pituitary deficiency due to Rathke cleft cysts,All ages,
91352,Germinoma of the central nervous system,"Adolescent, Adult, Childhood",Not applicable
91136,Acquired monoclonal Ig light chain-associated Fanconi syndrome,"Adult, Elderly",Not applicable
91135,Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,"Adolescent, Childhood","Autosomal recessive, Unknown"
91138,Cryoglobulinemic vasculitis,All ages,Not applicable
91137,Immunotactoid or fibrillary glomerulopathy,Adult,Not applicable
91140,Unspecified juvenile idiopathic arthritis,"Childhood, Infancy",
91139,Simple cryoglobulinemia,"Adult, Elderly",
528623,Hereditary angioedema with C1Inh deficiency,"Adult, Elderly",Not applicable
528647,Hereditary angioedema with normal C1Inh,,Not applicable
528663,Acquired angioedema with C1Inh deficiency,,Not applicable
79396,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form",Neonatal,Autosomal dominant
79397,Epidermolysis bullosa simplex with mottled pigmentation,"Infancy, Neonatal",Autosomal dominant
79394,Congenital ichthyosiform erythroderma,"Infancy, Neonatal",Autosomal recessive
79395,Keratoderma hereditarium mutilans with ichthyosis,"Infancy, Neonatal",Autosomal dominant
79373,Ectodermal dysplasia syndrome,"Infancy, Neonatal",
79414,Woolly hair nevus,"Infancy, Neonatal",Not applicable
79399,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","Infancy, Neonatal","Autosomal dominant, Not applicable"
79401,PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement,"Infancy, Neonatal",Autosomal dominant
79400,Localized epidermolysis bullosa simplex,Childhood,Autosomal dominant
79403,Junctional epidermolysis bullosa with pyloric atresia,"Antenatal, Neonatal",Autosomal recessive
79402,Intermediate generalized junctional epidermolysis bullosa,Neonatal,Autosomal recessive
79405,Junctional epidermolysis bullosa inversa,"Infancy, Neonatal",Autosomal recessive
79404,Severe generalized junctional epidermolysis bullosa,"Infancy, Neonatal",Autosomal recessive
79406,Late-onset junctional epidermolysis bullosa,"Adolescent, Adult, Childhood",Autosomal recessive
79409,Recessive dystrophic epidermolysis bullosa inversa,"Infancy, Neonatal",Autosomal recessive
79408,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form",Neonatal,Autosomal recessive
79411,Self-improving dystrophic epidermolysis bullosa,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
79410,"Localized dystrophic epidermolysis bullosa, pretibial form","Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
79452,Milroy disease,"Antenatal, Infancy, Neonatal",Autosomal dominant
79447,X-linked lethal multiple pterygium syndrome,"Antenatal, Neonatal","X-linked dominant, X-linked recessive"
79456,Diffuse cutaneous mastocytosis,"Infancy, Neonatal",Not applicable
79457,Maculopapular cutaneous mastocytosis,All ages,Not applicable
79455,Cutaneous mastocytoma,All ages,Not applicable
79435,Oculocutaneous albinism type 4,"Infancy, Neonatal",Autosomal recessive
79434,Oculocutaneous albinism type 1B,"Infancy, Neonatal",Autosomal recessive
79433,Oculocutaneous albinism type 3,"Infancy, Neonatal",Autosomal recessive
79432,Oculocutaneous albinism type 2,"Infancy, Neonatal",Autosomal recessive
79431,Oculocutaneous albinism type 1A,"Infancy, Neonatal",Autosomal recessive
79430,Hermansky-Pudlak syndrome,"Infancy, Neonatal",Autosomal recessive
79445,Pseudopseudohypoparathyroidism,All ages,Autosomal dominant
79444,Pseudohypoparathyroidism type 1C,"Childhood, Infancy, Neonatal",Autosomal dominant
79443,Pseudohypoparathyroidism type 1A,"Childhood, Infancy, Neonatal",Autosomal dominant
79483,Phakomatosis cesioflammea,,Not applicable
79484,Phakomatosis cesiomarmorata,,Not applicable
79485,Phakomatosis spilorosea,,Not applicable
79478,Griscelli syndrome type 3,Childhood,Autosomal recessive
79479,Pemphigus vegetans,All ages,
79480,Pemphigus erythematosus,"Adolescent, Adult, Childhood",
79481,Pemphigus foliaceus,All ages,
79490,Microcystic lymphatic malformation,"Infancy, Neonatal",Not applicable
79492,Pili gemini,"Adolescent, Adult, Childhood, Elderly",
79493,Brooke-Spiegler syndrome,"Adolescent, Adult",Autosomal dominant
79489,Macrocystic lymphatic malformation,"Infancy, Neonatal",Not applicable
79474,Atypical Werner syndrome,"Adolescent, Adult","Autosomal dominant, Unknown"
79477,Griscelli syndrome type 2,"Childhood, Infancy",Autosomal recessive
79476,Griscelli syndrome type 1,"Childhood, Infancy",Autosomal recessive
79473,Variegate porphyria,"Adolescent, Adult",Autosomal dominant
79269,Sanfilippo syndrome type A,,Autosomal recessive
79257,GM1 gangliosidosis type 3,All ages,Autosomal recessive
79256,GM1 gangliosidosis type 2,Childhood,Autosomal recessive
79255,GM1 gangliosidosis type 1,"Infancy, Neonatal",Autosomal recessive
79259,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib,"Infancy, Neonatal",Autosomal recessive
79258,Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia,"Infancy, Neonatal",Autosomal recessive
79246,Pyruvate dehydrogenase phosphatase deficiency,"Infancy, Neonatal",Autosomal recessive
79240,Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency,Childhood,Autosomal recessive
79241,Biotinidase deficiency,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
79238,Galactose epimerase deficiency,"Infancy, Neonatal",Autosomal recessive
79239,Classic galactosemia,"Infancy, Neonatal",Autosomal recessive
79244,Pyruvate dehydrogenase E2 deficiency,Childhood,Autosomal recessive
79242,Holocarboxylase synthetase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
79243,Pyruvate dehydrogenase E1-alpha deficiency,"Infancy, Neonatal",X-linked dominant
79299,Congenital glucokinase-related hyperinsulinism,"Infancy, Neonatal",Autosomal dominant
79298,Diazoxide-resistant focal hyperinsulinism,All ages,
79301,Congenital bile acid synthesis defect type 1,"Infancy, Neonatal",Autosomal recessive
79293,Familial LCAT deficiency,All ages,"Autosomal recessive, Not applicable"
79292,Fish-eye disease,"Adolescent, Adult",Autosomal recessive
79278,Autosomal erythropoietic protoporphyria,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
79279,Alpha-N-acetylgalactosaminidase deficiency type 1,"Infancy, Neonatal",Autosomal recessive
79280,Alpha-N-acetylgalactosaminidase deficiency type 2,Adult,Autosomal recessive
79281,Alpha-N-acetylgalactosaminidase deficiency type 3,Childhood,Autosomal recessive
79282,"Methylmalonic acidemia with homocystinuria, type cblC",All ages,Autosomal recessive
79283,"Methylmalonic acidemia with homocystinuria, type cblD",All ages,Autosomal recessive
79284,Methylmalonic acidemia with homocystinuria type cblF,Childhood,Autosomal recessive
79270,Sanfilippo syndrome type B,"Infancy, Neonatal",Autosomal recessive
79271,Sanfilippo syndrome type C,Childhood,Autosomal recessive
79272,Sanfilippo syndrome type D,,Autosomal recessive
79273,Hereditary coproporphyria,"Adolescent, Adult",Autosomal dominant
79276,Acute intermittent porphyria,"Adolescent, Adult",Autosomal dominant
79277,Congenital erythropoietic porphyria,All ages,Autosomal recessive
79333,COG7-CDG,"Infancy, Neonatal",Autosomal recessive
79332,B4GALT1-CDG,Neonatal,Autosomal recessive
79330,MOGS-CDG,"Infancy, Neonatal",Autosomal recessive
79329,MGAT2-CDG,"Infancy, Neonatal",Autosomal recessive
79328,ALG9-CDG,"Antenatal, Infancy, Neonatal",Autosomal recessive
79327,ALG1-CDG,"Infancy, Neonatal",Autosomal recessive
79326,ALG2-CDG,"Infancy, Neonatal",Autosomal recessive
79325,ALG8-CDG,"Antenatal, Infancy, Neonatal",Autosomal recessive
79324,ALG12-CDG,"Infancy, Neonatal",Autosomal recessive
79323,MPDU1-CDG,"Infancy, Neonatal",Autosomal recessive
79322,DPM1-CDG,"Infancy, Neonatal",Autosomal recessive
79321,ALG3-CDG,"Infancy, Neonatal",Autosomal recessive
79320,ALG6-CDG,"Infancy, Neonatal",Autosomal recessive
79319,MPI-CDG,"Infancy, Neonatal",Autosomal recessive
79318,PMM2-CDG,"Infancy, Neonatal",Autosomal recessive
79314,L-2-hydroxyglutaric aciduria,Childhood,Autosomal recessive
79315,D-2-hydroxyglutaric aciduria,"Childhood, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
79312,Vitamin B12-unresponsive methylmalonic acidemia type mut-,"Infancy, Neonatal",Autosomal recessive
79310,Vitamin B12-responsive methylmalonic acidemia type cblA,Childhood,Autosomal recessive
79311,Vitamin B12-responsive methylmalonic acidemia type cblB,Childhood,Autosomal recessive
79306,Progressive familial intrahepatic cholestasis type 1,"Infancy, Neonatal",Autosomal recessive
79304,Progressive familial intrahepatic cholestasis type 2,"Infancy, Neonatal",Autosomal recessive
79305,Progressive familial intrahepatic cholestasis type 3,All ages,Autosomal recessive
79302,Congenital bile acid synthesis defect type 3,"Infancy, Neonatal",Autosomal recessive
79303,Congenital bile acid synthesis defect type 2,"Infancy, Neonatal",Autosomal recessive
79361,Inherited epidermolysis bullosa,All ages,"Autosomal dominant, Autosomal recessive"
79351,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form","Adolescent, Childhood, Infancy",Autosomal recessive
79350,"3-phosphoserine phosphatase deficiency, infantile/juvenile form",Infancy,Autosomal recessive
79346,"Chondrodysplasia punctata, tibial-metacarpal type","Antenatal, Neonatal",Unknown
79347,"Chondrodysplasia punctata, Toriello type",Neonatal,Autosomal recessive
79345,Brachytelephalangic chondrodysplasia punctata,"Antenatal, Neonatal",X-linked recessive
85191,Singleton-Merten dysplasia,No data available,Autosomal dominant
85188,"Metaphyseal dysplasia, Braun-Tinschert type","Infancy, Neonatal",
85193,Idiopathic juvenile osteoporosis,"Adolescent, Childhood","Multigenic/multifactorial, Not applicable"
85192,Calvarial doughnut lesions-bone fragility syndrome,Childhood,Autosomal dominant
85195,Familial expansile osteolysis,"Adolescent, Adult, Childhood",Autosomal dominant
85194,Spondylo-ocular syndrome,"Infancy, Neonatal",Autosomal recessive
85197,Genochondromatosis type 1,Childhood,Autosomal dominant
85199,Craniosynostosis-anal anomalies-porokeratosis syndrome,"Infancy, Neonatal",Autosomal recessive
85198,Dysspondyloenchondromatosis,"Infancy, Neonatal","Autosomal dominant, Not applicable"
85201,Genitopatellar syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
85203,Acropectoral syndrome,"Infancy, Neonatal",Autosomal dominant
85202,Keutel syndrome,Childhood,Autosomal recessive
85273,"X-linked intellectual disability, Abidi type",Childhood,X-linked recessive
85212,Fetal Gaucher disease,"Infancy, Neonatal",Autosomal recessive
85274,Syndromic X-linked intellectual disability 7,No data available,X-linked recessive
85275,Microphthalmia-ankyloblepharon-intellectual disability syndrome,"Infancy, Neonatal",X-linked recessive
85276,"X-linked intellectual disability, Armfield type","Infancy, Neonatal",X-linked recessive
85277,"X-linked intellectual disability, Cantagrel type","Infancy, Neonatal",X-linked recessive
85278,Christianson syndrome,"Infancy, Neonatal",X-linked recessive
85279,KDM5C-related syndromic X-linked intellectual disability,Childhood,X-linked recessive
85280,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,"Infancy, Neonatal",X-linked recessive
85282,MEHMO syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
85284,BRESEK syndrome,Childhood,X-linked dominant
85285,"X-linked intellectual disability, Schimke type","Infancy, Neonatal",X-linked recessive
85286,"X-linked intellectual disability, Shashi type","Infancy, Neonatal",X-linked recessive
85287,"X-linked intellectual disability, Siderius type","Infancy, Neonatal",X-linked recessive
85288,"X-linked intellectual disability, Stocco Dos Santos type",Childhood,X-linked recessive
85293,"X-linked intellectual disability, Cabezas type",Childhood,X-linked recessive
85292,X-linked spinocerebellar ataxia type 4,Adult,X-linked recessive
85290,"X-linked intellectual disability, Wilson type",Childhood,"X-linked dominant, X-linked recessive"
85317,X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,Childhood,X-linked recessive
85297,X-linked spinocerebellar ataxia type 3,Childhood,X-linked recessive
85295,"HSD10 disease, atypical type","Childhood, Infancy",X-linked dominant
85294,X-linked epilepsy-learning disabilities-behavior disorders syndrome,Childhood,X-linked recessive
85321,"Deafness-intellectual disability syndrome, Martin-Probst type","Infancy, Neonatal",X-linked recessive
85320,X-linked intellectual disability-macrocephaly-macroorchidism syndrome,"Infancy, Neonatal",X-linked recessive
85319,X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,"Infancy, Neonatal",X-linked recessive
85325,"X-linked intellectual disability, Stevenson type",Childhood,X-linked recessive
85324,"X-linked intellectual disability, Shrimpton type","Infancy, Neonatal",X-linked recessive
85323,"X-linked intellectual disability, Seemanova type","Infancy, Neonatal",X-linked recessive
85322,"X-linked intellectual disability, Pai type","Childhood, Infancy",X-linked recessive
85329,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,"Childhood, Infancy",X-linked recessive
85326,"X-linked intellectual disability, Stoll type","Infancy, Neonatal",X-linked recessive
85327,X-linked intellectual disability-acromegaly-hyperactivity syndrome,Childhood,X-linked recessive
85332,X-linked intellectual disability-retinitis pigmentosa syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
85336,"X-linked neurodegenerative syndrome, Hamel type","Infancy, Neonatal",X-linked recessive
85334,"X-linked neurodegenerative syndrome, Bertini type","Infancy, Neonatal",X-linked recessive
85335,Fried syndrome,"Infancy, Neonatal",X-linked recessive
85410,Oligoarticular juvenile idiopathic arthritis,Childhood,Multigenic/multifactorial
85414,Systemic-onset juvenile idiopathic arthritis,Childhood,"Multigenic/multifactorial, Unknown"
85338,X-linked intellectual disability-ataxia-apraxia syndrome,Childhood,X-linked recessive
85408,Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis,Childhood,Multigenic/multifactorial
85443,AL amyloidosis,Adult,Not applicable
85442,Short stature-pituitary and cerebellar defects-small sella turcica syndrome,"Infancy, Neonatal",Autosomal dominant
85446,Wild type ABeta2M amyloidosis,Adult,Not applicable
85445,AA amyloidosis,"Adolescent, Adult, Childhood",Not applicable
85436,Psoriasis-related juvenile idiopathic arthritis,"Adolescent, Childhood",Unknown
85435,Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,Childhood,Unknown
85438,Enthesitis-related juvenile idiopathic arthritis,"Adolescent, Childhood",Unknown
85458,Hereditary cerebral amyloid angiopathy,Adult,Autosomal dominant
85453,X-linked reticulate pigmentary disorder,Childhood,X-linked dominant
86788,X-linked severe congenital neutropenia,"Infancy, Neonatal",X-linked recessive
86309,DPAGT1-CDG,"Childhood, Infancy, Neonatal",Autosomal recessive
85448,AGel amyloidosis,Adult,Autosomal dominant
85447,ATTRV30M amyloidosis,Adult,Autosomal dominant
85451,ATTRV122I amyloidosis,Adult,Autosomal dominant
85450,Hereditary amyloidosis with primary renal involvement,All ages,Autosomal dominant
86812,POMT1-related limb-girdle muscular dystrophy R11,Childhood,Autosomal recessive
86813,Helicoid peripapillary chorioretinal degeneration,"Infancy, Neonatal",Autosomal dominant
86814,Familial adult myoclonic epilepsy,All ages,Autosomal dominant
86815,Aplasia of lacrimal and salivary glands,,Autosomal dominant
86789,Isolated patella aplasia/hypoplasia,"Infancy, Neonatal",Autosomal dominant
86797,Atypical lichen myxedematosus,"Adolescent, Adult, Elderly",
86820,Familial avascular necrosis of femoral head,Adult,Autosomal dominant
86821,Lissencephaly type 3-familial fetal akinesia sequence syndrome,Antenatal,Autosomal recessive
86822,Lissencephaly type 3-metacarpal bone dysplasia syndrome,"Antenatal, Neonatal",Autosomal recessive
86816,Congenital analbuminemia,"Antenatal, Infancy, Neonatal",Autosomal recessive
512017,Chronic lymphoproliferative disorder of natural killer cells,,Unknown
86817,Hemolytic anemia due to adenylate kinase deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
86818,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,"Antenatal, Infancy, Neonatal",X-linked recessive
86819,Atrichia with papular lesions,,Autosomal recessive
86843,Acute panmyelosis with myelofibrosis,Adult,Not applicable
86841,Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,Adult,Not applicable
86839,Myelodysplastic neoplasm with increased blasts,Adult,Not applicable
86836,Refractory cytopenia with multilineage dysplasia,Adult,
512103,Autosomal recessive epidermolytic ichthyosis,,Autosomal recessive
86834,Juvenile myelomonocytic leukemia,"Childhood, Infancy",Not applicable
86830,"Chronic myeloproliferative disease, unclassifiable",Adult,
86829,Chronic neutrophilic leukemia,Adult,Not applicable
86855,Plasmacytoma,Adult,Not applicable
512260,Congenital cerebellar ataxia due to RNU12 mutation,Infancy,Autosomal recessive
86854,Splenic marginal zone lymphoma,Adult,Not applicable
86852,B-cell prolymphocytic leukemia,Adult,
86851,Acute leukemia of ambiguous lineage,All ages,
86850,Myeloid sarcoma,All ages,Not applicable
86849,Acute basophilic leukemia,All ages,
86846,Therapy related acute myeloid leukemia and myelodysplastic syndrome,All ages,
86845,Acute myeloid leukaemia with myelodysplasia-related features,Adult,Not applicable
86872,T-cell large granular lymphocyte leukemia,Adult,Not applicable
86873,Aggressive NK-cell leukemia,Adult,"Multigenic/multifactorial, Not applicable"
86870,Blastic plasmacytoid dendritic cell neoplasm,Elderly,Not applicable
86871,T-cell prolymphocytic leukemia,"Adult, Elderly",Not applicable
86867,Nodal marginal zone B-cell lymphoma,"Adolescent, Adult, Elderly",Not applicable
86869,Lymphomatoid granulomatosis,Adult,Not applicable
86861,Non-amyloid monoclonal immunoglobulin deposition disease,Adult,
86864,Heavy chain disease,Adult,
86886,Angioimmunoblastic T-cell lymphoma,Adult,Not applicable
86893,Nodular lymphocyte predominant Hodgkin lymphoma,All ages,Unknown
86884,Subcutaneous panniculitis-like T-cell lymphoma,All ages,Not applicable
86885,Primary cutaneous peripheral T-cell lymphoma not otherwise specified,"Adult, Elderly",Not applicable
86880,Enteropathy-associated T-cell lymphoma,Adult,Not applicable
86882,Hepatosplenic T-cell lymphoma,"Adolescent, Adult",Not applicable
86875,Adult T-cell leukemia/lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
86879,Extranodal nasal NK/T cell lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
79502,Punctate palmoplantar keratoderma type 2,Adult,Autosomal dominant
79503,Ichthyosis hystrix of Curth-Macklin,Childhood,"Autosomal dominant, Not applicable"
79507,Hypotonia-failure to thrive-microcephaly syndrome,"Infancy, Neonatal",Autosomal recessive
79495,X-linked congenital generalized hypertrichosis,,X-linked dominant
79499,Autosomal dominant deafness-onychodystrophy syndrome,"Antenatal, Neonatal",Autosomal dominant
79500,DOORS syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
79501,Punctate palmoplantar keratoderma type 1,"Adolescent, Adult",Autosomal dominant
79643,Autosomal recessive hyperinsulinism due to SUR1 deficiency,,Autosomal recessive
79651,Mild hyperphenylalaninemia,"Infancy, Neonatal",Autosomal recessive
79644,Autosomal recessive hyperinsulinism due to Kir6.2 deficiency,Neonatal,Autosomal recessive
83317,Scrub typhus,All ages,
83330,Proximal spinal muscular atrophy type 1,"Infancy, Neonatal",Autosomal recessive
83315,Murine typhus,All ages,Not applicable
83316,Pseudotyphus of California,All ages,Not applicable
83419,Proximal spinal muscular atrophy type 3,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
83420,Proximal spinal muscular atrophy type 4,Adult,Autosomal recessive
83418,Proximal spinal muscular atrophy type 2,Infancy,Autosomal recessive
83313,Boutonneuse fever,All ages,Not applicable
83314,Epidemic typhus,All ages,Not applicable
83311,Rocky Mountain spotted fever,All ages,Not applicable
83312,Rickettsialpox,All ages,Not applicable
83469,Desmoplastic small round cell tumor,"Adolescent, Adult",Not applicable
83468,Solitary bone cyst,Childhood,Not applicable
83467,Morvan syndrome,Adult,
83465,Narcolepsy type 2,"Adolescent, Adult, Childhood",Unknown
83476,West-Nile encephalitis,All ages,Not applicable
83473,Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,"Infancy, Neonatal","Autosomal dominant, Not applicable"
83472,CAMOS syndrome,"Infancy, Neonatal",Autosomal recessive
83471,T-cell immunodeficiency with thymic aplasia,"Infancy, Neonatal",Autosomal recessive
83452,Complex regional pain syndrome,All ages,Not applicable
83451,Florid cemento-osseous dysplasia,Adult,Not applicable
83450,Regional odontodysplasia,Childhood,Not applicable
83463,Microtia,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
83461,Congenital primary aphakia,"Antenatal, Infancy, Neonatal",Autosomal recessive
83454,Glomuvenous malformation,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal dominant
83453,Vulvovaginal gingival syndrome,Adult,Not applicable
514352,Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome,"Antenatal, Neonatal",
83619,Macrostomia-preauricular tags-external ophthalmoplegia syndrome,"Infancy, Neonatal",Autosomal dominant
83620,Enteric anendocrinosis,"Infancy, Neonatal",Autosomal recessive
83628,LUMBAR syndrome,"Infancy, Neonatal",Unknown
83601,Steroid-responsive encephalopathy associated with autoimmune thyroiditis,All ages,Not applicable
83616,Rubella panencephalitis,Childhood,Not applicable
83617,Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
83594,Eastern equine encephalitis,All ages,Not applicable
83595,Colorado tick fever,All ages,Not applicable
83597,Acute disseminated encephalomyelitis,All ages,Not applicable
83600,Encephalitis lethargica,Adult,Not applicable
83482,Mycoplasma encephalitis,All ages,Not applicable
83483,La Crosse encephalitis,All ages,Not applicable
83484,St. Louis encephalitis,All ages,Not applicable
83593,Western equine encephalitis,All ages,Not applicable
84085,Hinman syndrome,All ages,
84081,Senior-Boichis syndrome,All ages,Autosomal recessive
84090,Fibronectin glomerulopathy,All ages,Autosomal dominant
84064,Trichohepatoenteric syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
513436,Autosomal recessive spastic paraplegia type 78,"Adolescent, Adult, Childhood",Autosomal recessive
83639,Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,"Infancy, Neonatal",Autosomal recessive
83629,Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome,"Childhood, Infancy",X-linked recessive
513456,Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome,Infancy,Autosomal dominant
83642,Microcytic anemia with liver iron overload,"Infancy, Neonatal",Autosomal recessive
85163,Hypomyelination-congenital cataract syndrome,"Infancy, Neonatal",Autosomal recessive
85164,Camptodactyly-tall stature-scoliosis-hearing loss syndrome,Childhood,"Autosomal dominant, Autosomal recessive"
85146,"Neurogenic scapuloperoneal syndrome, Kaeser type",Adult,Autosomal dominant
85162,Facial onset sensory and motor neuronopathy,"Adult, Elderly",Unknown
85138,Addison disease,All ages,Not applicable
85128,Bothnia retinal dystrophy,Childhood,Autosomal recessive
85136,Cystic leukoencephalopathy without megalencephaly,"Infancy, Neonatal",Autosomal recessive
85110,Familial encephalopathy with neuroserpin inclusion bodies,"Adolescent, Adult, Childhood",Autosomal dominant
85112,Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,Childhood,Autosomal recessive
84132,Desmin-related myopathy with Mallory body-like inclusions,"Infancy, Neonatal",Autosomal recessive
84142,Isaacs syndrome,All ages,Not applicable
84093,Hereditary thermosensitive neuropathy,"Adolescent, Adult, Childhood",
85186,Endosteal sclerosis-cerebellar hypoplasia syndrome,"Infancy, Neonatal",Autosomal recessive
85184,"Craniometadiaphyseal dysplasia, wormian bone type",Neonatal,Autosomal recessive
85182,Diaphyseal medullary stenosis-bone malignancy syndrome,,Autosomal dominant
85179,Infantile osteopetrosis with neuroaxonal dysplasia,"Infancy, Neonatal",Autosomal recessive
85175,Astley-Kendall dysplasia,"Antenatal, Neonatal",Autosomal recessive
85174,Pseudodiastrophic dysplasia,"Infancy, Neonatal",Autosomal recessive
85173,IMAGe syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
85172,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type",Neonatal,Autosomal recessive
85170,"Mesomelic dysplasia, Savarirayan type","Infancy, Neonatal",Not applicable
85169,Familial digital arthropathy-brachydactyly,"Infancy, Neonatal",Autosomal dominant
85168,Craniofacial conodysplasia,No data available,Autosomal dominant
85167,Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,No data available,Autosomal recessive
85166,"Platyspondylic dysplasia, Torrance type","Antenatal, Infancy, Neonatal",Autosomal dominant
85165,Severe achondroplasia-developmental delay-acanthosis nigricans syndrome,Childhood,"Autosomal dominant, Not applicable"
603448,Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,Neonatal,Autosomal dominant
603515,Isolated female hypospadias,Neonatal,
603494,Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome,"Antenatal, Neonatal",
603689,KLHL7-related Bohring-Opitz-like syndrome,"Antenatal, Neonatal",Autosomal recessive
603684,KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome,Neonatal,Autosomal recessive
603699,Recessive KLHL7-related disorder,,Autosomal recessive
603694,KLHL7-related Crisponi/cold-induced sweating-like syndrome,,Autosomal recessive
610573,CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome,Infancy,Autosomal dominant
610569,KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome,"Antenatal, Neonatal",Autosomal recessive
604680,Symptomatic form of X-linked centronuclear myopathy in female carriers,"Childhood, Infancy, Neonatal",
98098,Autosomal recessive degenerative and progressive cerebellar ataxia,,Autosomal recessive
98099,Autosomal recessive syndromic cerebellar ataxia,,Autosomal recessive
98096,Autosomal recessive metabolic cerebellar ataxia,,Autosomal recessive
98097,Autosomal recessive cerebellar ataxia due to a DNA repair defect,,Autosomal recessive
98095,Autosomal recessive congenital cerebellar ataxia,,Autosomal recessive
611256,Pontocerebellar hypoplasia type 12,"Antenatal, Neonatal",Autosomal recessive
611237,Parkinsonism with polyneuropathy,Adult,
611247,Pontocerebellar hypoplasia type 11,"Antenatal, Neonatal",Autosomal recessive
611216,Aplastic anemia-intellectual disability-dwarfism syndrome,"Infancy, Neonatal",
611223,EN1-related dorsoventral syndrome,Neonatal,
611201,Oculogastrointestinal-neurodevelopmental syndrome,"Infancy, Neonatal",Autosomal recessive
613267,Pontocerebellar hypoplasia type 13,Neonatal,Autosomal recessive
613274,Pontocerebellar hypoplasia type 14,"Antenatal, Neonatal",Autosomal recessive
98261,Progressive myoclonic epilepsy,"Adolescent, Childhood, Infancy, Neonatal",
98249,Ehlers-Danlos syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
600668,CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome,Neonatal,Autosomal dominant
600663,NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance,Neonatal,Autosomal recessive
600691,Combined deficiency of factor VII and factor X,"Adolescent, Adult, Childhood, Infancy, Neonatal",
600731,Clark-Baraitser syndrome,"Childhood, Infancy, Neonatal",
98293,Hodgkin lymphoma,"Adolescent, Adult, Childhood, Elderly, Infancy",Multigenic/multifactorial
98292,Mastocytosis,All ages,
98291,Lymphoproliferative disease associated with primary immune disease,Childhood,
98274,Myeloproliferative neoplasm,All ages,
98267,Genetic non-syndromic obesity,"Childhood, Infancy",Not applicable
601028,Non-syndromic rectovaginal fistula,Neonatal,
601033,Non-syndromic H-type fistula,Neonatal,
601008,Non-syndromic anal stenosis,Neonatal,
601013,Non-syndromic pouch colon,Neonatal,
601018,Non-syndromic rectal atresia,Neonatal,
601023,Non-syndromic rectal stenosis,Neonatal,
600984,Non-syndromic rectovesical fistula,Neonatal,
600993,Non-syndromic vestibular fistula,Neonatal,
600998,Non-syndromic cloacal malformation,Neonatal,
601002,Non-syndromic anorectal malformation without fistula,Neonatal,
600961,Non-syndromic rectourethral fistula,Neonatal,
600952,Non-syndromic perineal fistula,Neonatal,
97244,Rigid spine syndrome,"Infancy, Neonatal",Autosomal recessive
97242,Congenital muscular dystrophy,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
97261,GRFoma,Adult,Not applicable
97253,Neuroendocrine tumor of pancreas,Adult,"Autosomal dominant, Not applicable"
97249,Pontocerebellar hypoplasia type 3,Neonatal,Autosomal recessive
97279,Insulinoma,All ages,Not applicable
97278,PPoma,Adult,Not applicable
97285,Thyroid lymphoma,No data available,
97283,Somatostatinoma,"Adult, Elderly",Unknown
97282,VIPoma,All ages,Not applicable
97280,Glucagonoma,Adult,Not applicable
97289,Thymic neuroendocrine tumor,"Adult, Elderly",
97290,Familial papillary thyroid carcinoma with renal papillary neoplasia,Elderly,
97286,Carney-Stratakis syndrome,"Adolescent, Adult",Autosomal dominant
97287,Bronchial neuroendocrine tumor,"Adolescent, Adult, Childhood, Elderly",Not applicable
97292,Cardiogenic shock,"Adolescent, Adult, Childhood, Elderly",Not applicable
97332,Kienbock disease,Adult,
97335,Osgood-Schlatter disease,"Adolescent, Childhood",Not applicable
97297,Bohring-Opitz syndrome,"Antenatal, Neonatal",Autosomal dominant
97330,Thoracic outlet syndrome,"Adult, Elderly",
97338,Melanoma of soft tissue,Adult,Not applicable
97339,Dural sinus malformation with arteriovenous shunt,"Antenatal, Infancy, Neonatal",
97336,Panner disease,Childhood,Not applicable
97337,Sinding-Larsen-Johansson disease,"Adolescent, Childhood",Not applicable
97341,Persistent placoid maculopathy,"Adult, Elderly",
97340,Hunter-McAlpine syndrome,"Antenatal, Infancy, Neonatal",
97346,ADan amyloidosis,,Autosomal dominant
97345,ABri amyloidosis,Adult,Autosomal dominant
97349,Postencephalitic parkinsonism,"Adult, Elderly",
97353,Dementia pugilistica,Adult,
97360,Robinow syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
97355,Caribbean parkinsonism,"Adult, Elderly",
97361,"Renal hypoplasia, unilateral",All ages,Not applicable
97362,"Renal hypoplasia, bilateral",All ages,"Autosomal dominant, Not applicable"
97363,Unilateral multicystic dysplastic kidney,All ages,Autosomal dominant
97364,Bilateral multicystic dysplastic kidney,"Antenatal, Neonatal",Autosomal dominant
97366,Multiloculated renal cyst,"Adult, Elderly, Infancy",
97367,Renal tubular dysgenesis due to twin-twin transfusion,,Not applicable
97368,Drug-related renal tubular dysgenesis,,Not applicable
97369,Renal tubular dysgenesis of genetic origin,,Autosomal recessive
97548,Right isomerism,Neonatal,Autosomal recessive
97560,Primary membranous glomerulonephritis,Adult,
96183,Maternal uniparental disomy of chromosome 9 syndrome,"Antenatal, Neonatal",
96182,Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,"Antenatal, Neonatal",
96181,Maternal uniparental disomy of chromosome 6 syndrome,"Antenatal, Neonatal",
96180,Maternal uniparental disomy of chromosome 4 syndrome,"Antenatal, Neonatal",
96179,Maternal uniparental disomy of chromosome 2 syndrome,"Antenatal, Neonatal",
96178,Ring chromosome 16 syndrome,"Antenatal, Infancy, Neonatal",
96177,Ring chromosome 15 syndrome,"Antenatal, Infancy, Neonatal",
96176,Ring chromosome 13 syndrome,"Antenatal, Childhood, Infancy, Neonatal",
96191,Paternal uniparental disomy of chromosome 6 syndrome,"Antenatal, Neonatal",
96190,Paternal uniparental disomy of chromosome 5 syndrome,"Antenatal, Neonatal",
96188,Maternal uniparental disomy of chromosome 22 syndrome,"Antenatal, Infancy, Neonatal",
96186,Maternal uniparental disomy of chromosome 20 syndrome,"Antenatal, Neonatal",
96185,Maternal uniparental disomy of chromosome 16 syndrome,"Antenatal, Neonatal",
96184,Temple syndrome due to maternal uniparental disomy of chromosome 14,"Antenatal, Neonatal",
96194,Paternal uniparental disomy of chromosome 20 syndrome,"Antenatal, Neonatal",
96195,Paternal uniparental disomy of chromosome 21 syndrome,"Antenatal, Neonatal",
96192,Paternal uniparental disomy of chromosome 7 syndrome,"Childhood, Infancy",
96253,Cushing disease,Adult,Not applicable
96201,X small rings syndrome,"Antenatal, Neonatal",
96264,"49,XXXXY syndrome",Childhood,"Not applicable, Unknown"
96263,"48,XXXY syndrome","Antenatal, Infancy, Neonatal","Not applicable, Unknown"
96266,Leydig cell hypoplasia due to partial LH resistance,Neonatal,Autosomal recessive
96265,Leydig cell hypoplasia due to complete LH resistance,Neonatal,Autosomal recessive
96334,Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14,"Infancy, Neonatal",
97214,Eisenmenger syndrome,"Adolescent, Adult, Childhood",Not applicable
97234,Glycogen storage disease due to phosphoglycerate mutase deficiency,"Adolescent, Childhood",Autosomal recessive
97238,Rippling muscle disease,"Adolescent, Adult, Childhood, Elderly, Infancy","Autosomal dominant, Autosomal recessive"
97239,Reducing body myopathy,"Adult, Childhood, Infancy","Not applicable, X-linked dominant"
97240,Zebra body myopathy,Neonatal,Unknown
97229,Riboflavin transporter deficiency,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
97230,Solar urticaria,All ages,Not applicable
97232,Fingerprint body myopathy,Neonatal,
600194,Factor V Atlanta bleeding disorder,No data available,Autosomal dominant
97678,Maternal uniparental disomy of chromosome 13 syndrome,Adult,
97598,Congenital renal artery stenosis,Neonatal,
97593,Pseudohypoparathyroidism,All ages,"Autosomal dominant, Not applicable"
97567,Immunotactoid glomerulopathy,Adult,Not applicable
97564,Pauci-immune glomerulonephritis without ANCA,"Adolescent, Adult, Childhood",Not applicable
97566,Non-amyloid fibrillary glomerulopathy,Adult,Not applicable
97563,Pauci-immune glomerulonephritis with ANCA,"Adult, Elderly",Not applicable
97685,17q11 microdeletion syndrome,"Antenatal, Infancy, Neonatal",Not applicable
95707,Idiopathic isolated micropenis,Neonatal,
95706,Non-syndromic posterior hypospadias,"Antenatal, Neonatal","Multigenic/multifactorial, X-linked recessive"
95702,X-linked adrenal hypoplasia congenita,"Childhood, Infancy",X-linked recessive
95715,Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies,Neonatal,Not applicable
95716,Familial thyroid dyshormonogenesis,"Infancy, Neonatal",Autosomal recessive
95713,Athyreosis,"Infancy, Neonatal",Autosomal dominant
95712,Thyroid ectopia,"Infancy, Neonatal",Not applicable
95619,Post-traumatic pituitary deficiency,"Adolescent, Adult, Childhood, Elderly",
95613,Pituitary apoplexy,All ages,Not applicable
95700,Familial adrenal hypoplasia with absent pituitary luteinizing hormone,Infancy,Autosomal recessive
95699,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,"Infancy, Neonatal",Autosomal recessive
95626,Acquired arginine vasopressin deficiency,All ages,
95506,Primary hypophysitis,Adult,Not applicable
95512,Adenohypophysitis,"Adolescent, Adult",
95513,Panhypophysitis,"Adolescent, Adult, Childhood, Elderly",
95496,Pituitary stalk interruption syndrome,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable"
95494,"Combined pituitary hormone deficiencies, genetic forms","Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
95433,Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome,Childhood,Autosomal recessive
95434,Autosomal recessive cerebellar ataxia-movement disorder syndrome,"Adult, Childhood, Elderly, Infancy",Autosomal recessive
95455,Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum,All ages,Not applicable
95459,Congenital tricuspid stenosis,"Infancy, Neonatal",
95157,Acute hepatic porphyria,All ages,"Autosomal dominant, Autosomal recessive"
95232,Lissencephaly due to LIS1 mutation,"Antenatal, Infancy, Neonatal",Autosomal dominant
95159,Hepatoerythropoietic porphyria,Childhood,Autosomal recessive
95428,COG8-CDG,Childhood,Autosomal recessive
95427,Secondary short bowel syndrome,All ages,Not applicable
95409,Acute adrenal insufficiency,All ages,"Autosomal recessive, Not applicable, X-linked dominant"
95432,Primary progressive aphasia,Adult,"Multigenic/multifactorial, Not applicable"
95430,Congenital tracheomalacia,Infancy,No data available
95429,Angioma serpiginosum,Childhood,"Autosomal dominant, Not applicable, X-linked recessive"
94091,Mills syndrome,"Adolescent, Adult, Childhood, Elderly",
94093,Neuroleptic malignant syndrome,All ages,Unknown
94122,"Cerebellar ataxia, Cayman type","Infancy, Neonatal",Autosomal recessive
94124,Spinocerebellar ataxia with axonal neuropathy type 1,Adolescent,Autosomal recessive
94125,Recessive mitochondrial ataxia syndrome,"Adolescent, Childhood",Autosomal recessive
94145,Autosomal dominant cerebellar ataxia type I,All ages,Autosomal dominant
94147,Spinocerebellar ataxia type 7,"Adolescent, Adult, Childhood, Elderly, Infancy",Autosomal dominant
94148,Autosomal dominant cerebellar ataxia type III,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
94149,Autosomal dominant cerebellar ataxia type IV,,Autosomal dominant
94150,Anonychia congenita totalis,,Autosomal recessive
94064,Deafness-infertility syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
94063,12q14 microdeletion syndrome,Childhood,Unknown
94066,Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,"Infancy, Neonatal",Autosomal recessive
94065,15q24 microdeletion syndrome,Childhood,"Not applicable, Unknown"
94068,Spondyloepiphyseal dysplasia congenita,"Antenatal, Neonatal",Autosomal dominant
94083,Partington syndrome,Childhood,X-linked recessive
94080,Non-functioning paraganglioma,"Adolescent, Adult, Childhood, Elderly",
94086,Blue diaper syndrome,"Infancy, Neonatal",
94088,Hereditary renal hypouricemia,All ages,Autosomal recessive
94087,Cytophagic histiocytic panniculitis,Adult,Unknown
94090,Pseudohypoparathyroidism type 2,All ages,Not applicable
94089,Pseudohypoparathyroidism type 1B,"Adolescent, Childhood, Infancy, Neonatal","Autosomal dominant, Not applicable"
96175,Ring chromosome 11 syndrome,"Antenatal, Infancy, Neonatal",
96173,Ring chromosome 9 syndrome,"Antenatal, Neonatal",
96172,Ring chromosome 3 syndrome,"Antenatal, Infancy, Neonatal",
96171,Ring chromosome 2 syndrome,"Antenatal, Infancy, Neonatal",
96170,Emanuel syndrome,"Antenatal, Neonatal",
96169,Koolen-De Vries syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
96168,Monosomy 13q34 syndrome,"Antenatal, Neonatal",Not applicable
96167,Recombinant 8 syndrome,"Infancy, Neonatal",Unknown
96160,Non-distal deletion 12q syndrome,Neonatal,
96150,Distal deletion 14q syndrome,Neonatal,
96148,Distal deletion 10q syndrome,"Antenatal, Neonatal","Not applicable, Unknown"
96149,Distal deletion 12q syndrome,Neonatal,
96147,Kleefstra syndrome due to 9q34 microdeletion,"Infancy, Neonatal",Not applicable
96145,Distal deletion 4q syndrome,"Infancy, Neonatal",
96129,Distal deletion 19p syndrome,"Antenatal, Neonatal",
96125,Distal deletion 6p syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
96126,Distal deletion 7p syndrome,"Antenatal, Neonatal",
96121,7q11.23 microduplication syndrome,"Infancy, Neonatal",
96123,Monosomy 22 syndrome,Neonatal,
96112,Non-distal duplication 9q syndrome,Neonatal,
96107,Distal duplication 20q syndrome,"Antenatal, Neonatal",
96106,Distal duplication 16q syndrome,"Antenatal, Neonatal",
96105,Distal duplication 13q syndrome,"Antenatal, Neonatal",
96109,Distal duplication 22q syndrome,"Antenatal, Neonatal",
96098,Distal duplication 6q syndrome,"Antenatal, Neonatal",
96097,Distal duplication 5q syndrome,Neonatal,
96096,Distal duplication 4q syndrome,"Antenatal, Neonatal",
96103,Distal duplication 11q syndrome,"Antenatal, Neonatal",
96102,Distal duplication 10q syndrome,"Infancy, Neonatal",
96101,Distal duplication 9q syndrome,"Antenatal, Neonatal",
96100,Distal duplication 8q syndrome,"Antenatal, Neonatal",
96094,Distal duplication 2q syndrome,"Infancy, Neonatal",
96095,3q26 microduplication syndrome,"Antenatal, Neonatal",
96092,8p inverted duplication/deletion syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
96072,4p16.3 microduplication syndrome,"Infancy, Neonatal",
96074,Distal duplication 7p syndrome,"Antenatal, Neonatal",
96078,16p13.3 microduplication syndrome,"Infancy, Neonatal",
96069,Distal duplication 1p36 syndrome,"Infancy, Neonatal",
96068,Mosaic trisomy 22 syndrome,"Antenatal, Neonatal",
96071,Distal duplication 3p syndrome,"Antenatal, Neonatal",
96070,Distal duplication 2p syndrome,Neonatal,
96059,Mosaic trisomy 4 syndrome,"Antenatal, Neonatal",
96060,Mosaic trisomy 5 syndrome,"Antenatal, Neonatal",
96061,Mosaic trisomy 8 syndrome,"Antenatal, Infancy, Neonatal","Not applicable, Unknown"
96063,Mosaic trisomy 10 syndrome,"Antenatal, Neonatal",
95717,Idiopathic congenital hypothyroidism,"Infancy, Neonatal",
95719,Thyroid hemiagenesis,Neonatal,Not applicable
95720,Thyroid hypoplasia,"Infancy, Neonatal","Autosomal dominant, Not applicable"
96055,Tetrasomy 21 syndrome,"Antenatal, Infancy, Neonatal",
597623,IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
597733,Oculocutaneous albinism type 8,Childhood,Autosomal recessive
597738,Luscan-Lumish syndrome,"Antenatal, Childhood, Infancy, Neonatal",Autosomal dominant
597887,ALPI-related inflammatory bowel disease,"Adolescent, Infancy",Autosomal recessive
93555,Mixed cryoglobulinemia type III,All ages,
93554,Mixed cryoglobulinemia type II,All ages,
597939,Euthyroid dysprealbuminemic hyperthyroxinemia,Adult,Autosomal dominant
597743,SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome,Neonatal,Autosomal dominant
597746,Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome,"Antenatal, Neonatal",
93552,Pediatric systemic lupus erythematosus,"Adolescent, Childhood, Infancy, Neonatal",Not applicable
597874,MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome,"Antenatal, Infancy, Neonatal",Autosomal recessive
93562,AFib amyloidosis,,Autosomal dominant
598216,Upper tract urothelial carcinoma,No data available,
598603,Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome,"Childhood, Infancy, Neonatal",Autosomal dominant
598363,Multisystem inflammatory syndrome in children and adults,Childhood,
598164,FOXG1 syndrome due to intragenic alteration,,Autosomal dominant
93560,AApoAI amyloidosis,,Autosomal dominant
93561,ALys amyloidosis,,Autosomal dominant
93571,Dense deposit disease,Childhood,Autosomal recessive
93568,Juvenile polymyositis,"Adolescent, Childhood",
597201,TRIM22-related inflammatory bowel disease,Neonatal,Autosomal recessive
93474,Scheie syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
93476,Hurler-Scheie syndrome,"Infancy, Neonatal",Autosomal recessive
93473,Hurler syndrome,"Infancy, Neonatal",Autosomal recessive
93399,Juvenile sialidosis type 2,Adolescent,Autosomal recessive
93398,Genochondromatosis type 2,Childhood,
93400,Congenital sialidosis type 2,"Infancy, Neonatal",Autosomal recessive
599373,STXBP1-related encephalopathy,Neonatal,Autosomal dominant
93403,Syndactyly type 2,"Infancy, Neonatal",Autosomal dominant
599376,Hypomyelination of early myelinating structures,Infancy,X-linked dominant
93402,Syndactyly type 1,"Antenatal, Infancy, Neonatal",Autosomal dominant
93405,Syndactyly type 4,"Infancy, Neonatal",Autosomal dominant
599418,Hereditary angioedema with normal C1Inh not related to F12 or PLG variant,,Autosomal dominant
93404,Syndactyly type 3,"Infancy, Neonatal",Autosomal dominant
599480,Acquired hemophilia A,"Adolescent, Adult, Childhood, Elderly",Not applicable
599485,Acquired hemophilia B,No data available,Not applicable
93406,Syndactyly type 5,"Infancy, Neonatal",Autosomal dominant
599490,Acquired factor V deficiency,"Adult, Elderly",
93409,"Brachydactyly-syndactyly, Zhao type","Infancy, Neonatal",Autosomal dominant
599495,Acquired factor VII deficiency,All ages,
599501,Acquired factor X deficiency,All ages,
599507,Acquired factor XI deficiency,"Adolescent, Adult",
599513,Acquired factor XIII deficiency,"Adolescent, Adult, Childhood, Elderly",
599519,Factor V short isoforms-related bleeding disorder,No data available,Autosomal dominant
599579,Factor V Amsterdam bleeding disorder,No data available,Autosomal dominant
93360,"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type","Infancy, Neonatal",Autosomal dominant
93358,Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,"Infancy, Neonatal",Autosomal recessive
93357,SPONASTRIME dysplasia,"Infancy, Neonatal",Autosomal recessive
599082,CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome,"Infancy, Neonatal",Autosomal dominant
93372,Familial hypocalciuric hypercalcemia type 1,All ages,Autosomal dominant
93382,Brachydactyly type A6,"Infancy, Neonatal",Autosomal dominant
93383,Brachydactyly type B,Antenatal,Autosomal dominant
93387,Brachydactyly type E,Antenatal,Autosomal dominant
93388,Brachydactyly type A1,"Infancy, Neonatal",Autosomal dominant
93384,Brachydactyly type C,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
93396,Brachydactyly type A2,"Infancy, Neonatal",Autosomal dominant
93397,Brachydactyly type A7,"Infancy, Neonatal",
93394,Brachydactyly type A4,"Infancy, Neonatal",Autosomal dominant
595356,Localized dystrophic epidermolysis bullosa,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
93969,Open spinal dysraphism with a myelomeningocele,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
93964,Blepharospasm-oromandibular dystonia syndrome,"Adult, Elderly",
93958,Oromandibular dystonia,"Adolescent, Adult, Childhood, Elderly, Infancy",
94059,Uremic pruritus,"Adolescent, Adult, Childhood, Elderly",Not applicable
94058,Neovascular glaucoma,"Adult, Elderly",Not applicable
94056,Isolated humero-ulnar synostosis,No data available,Not applicable
93976,Anotia,"Infancy, Neonatal",
93932,FG syndrome type 1,"Antenatal, Neonatal",X-linked recessive
93930,Classic bladder exstrophy,"Infancy, Neonatal",Multigenic/multifactorial
93928,Isolated epispadias,"Antenatal, Infancy, Neonatal",Multigenic/multifactorial
93929,Cloacal exstrophy,"Infancy, Neonatal",Multigenic/multifactorial
93926,Midline interhemispheric variant of holoprosencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
93924,Lobar holoprosencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
93925,Alobar holoprosencephaly,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
93921,Full schwannomatosis,"Adult, Elderly",Autosomal dominant
93953,Familial thyroglossal duct cyst,"Infancy, Neonatal",
93952,"X-linked intellectual disability, Hedera type",Infancy,X-linked recessive
595109,Atypical Timothy syndrome,"Antenatal, Neonatal",Autosomal dominant
595133,Perivascular epithelioid cell neoplasm,"Adolescent, Adult, Childhood, Elderly",
93950,"X-linked intellectual disability, Sutherland-Haan type","Antenatal, Infancy, Neonatal",X-linked recessive
595098,Timothy syndrome type 1,"Antenatal, Neonatal",Autosomal dominant
93947,"X-linked intellectual disability, Golabi-Ito-Hall type","Infancy, Neonatal",X-linked recessive
595105,Timothy syndrome type 2,"Antenatal, Neonatal",Autosomal dominant
93946,Hamel cerebro-palato-cardiac syndrome,"Infancy, Neonatal",X-linked recessive
93945,"X-linked intellectual disability, Porteous type",Infancy,X-linked recessive
93941,Laryngotracheoesophageal cleft type 4,"Infancy, Neonatal",
93940,Laryngotracheoesophageal cleft type 3,"Infancy, Neonatal",
93939,Laryngotracheoesophageal cleft type 2,"Infancy, Neonatal",
93938,Laryngotracheoesophageal cleft type 1,"Infancy, Neonatal",
93616,Hemoglobin H disease,All ages,Autosomal recessive
93622,Dent disease type 1,Childhood,X-linked recessive
93623,Dent disease type 2,"Childhood, Infancy",X-linked recessive
93672,Juvenile dermatomyositis,"Adolescent, Childhood, Infancy",Not applicable
93685,Unicentric Castleman disease,All ages,
93591,Infantile nephronophthisis,"Antenatal, Childhood, Infancy, Neonatal",Autosomal recessive
93592,Juvenile nephronophthisis,,Autosomal recessive
93589,Late-onset nephronophthisis,,Autosomal recessive
93598,Primary hyperoxaluria type 1,All ages,Autosomal recessive
596008,Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis,,Autosomal dominant
93583,Congenital thrombotic thrombocytopenic purpura,"Adult, Childhood, Infancy, Neonatal",Autosomal recessive
93585,Immune-mediated thrombotic thrombocytopenic purpura,All ages,Multigenic/multifactorial
93610,Distal renal tubular acidosis with anemia,"Infancy, Neonatal",Autosomal dominant
596759,Combined immunodeficiency due to RELA haploinsufficiency,Childhood,Autosomal dominant
93608,Autosomal dominant distal renal tubular acidosis,"Adolescent, Adult",Autosomal dominant
93607,Autosomal recessive proximal renal tubular acidosis,Childhood,Autosomal recessive
93613,Cystinuria type B,,Semi-dominant
596937,Portosinusoidal vascular disease,Adult,
93612,Cystinuria type A,,Autosomal recessive
93602,Xanthinuria type II,,Autosomal recessive
93601,Xanthinuria type I,,Autosomal recessive
596448,IgG4-related systemic disease,"Adolescent, Adult, Childhood, Elderly",Not applicable
93600,Primary hyperoxaluria type 3,"Childhood, Infancy",Autosomal recessive
93599,Primary hyperoxaluria type 2,Childhood,Autosomal recessive
93606,Nephrogenic syndrome of inappropriate antidiuresis,Childhood,X-linked recessive
596753,VEXAS syndrome,"Adult, Elderly",Not applicable
93605,Bartter syndrome type 3,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
99094,Laubry-Pezzi syndrome,"Infancy, Neonatal",
99077,Kommerell diverticulum,,Not applicable
99068,Complete atrioventricular septal defect-tetralogy of Fallot,,"Autosomal dominant, Not applicable"
99067,Complete atrioventricular septal defect with ventricular hypoplasia,,Autosomal dominant
99063,Shone complex,"Adult, Childhood, Infancy, Neonatal",
99125,Congenital total pulmonary venous return anomaly,Neonatal,Not applicable
99124,Congenital partial pulmonary venous return anomaly,"Adolescent, Adult, Childhood, Infancy",
99106,"Atrial septal defect, ostium primum type","Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
99105,"Atrial septal defect, sinus venosus type","Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
99104,"Atrial septal defect, coronary sinus type","Antenatal, Infancy, Neonatal",
99103,"Atrial septal defect, ostium secundum type","Antenatal, Infancy, Neonatal","Autosomal dominant, Not applicable"
99095,Congenital Gerbode defect,"Infancy, Neonatal",
99147,Acquired von Willebrand syndrome,Adult,Not applicable
99138,Hemolytic anemia due to erythrocyte adenosine deaminase overproduction,,Autosomal dominant
592873,Acute transverse myelitis with anti-MOG antibodies,"Adolescent, Adult, Childhood, Elderly, Infancy",
99141,Lymphedema-posterior choanal atresia syndrome,Neonatal,Autosomal recessive
99130,Congenital partial agenesis of pericardium,,Not applicable
99129,Congenital complete agenesis of pericardium,,Not applicable
99131,Pleuro-pericardial cyst,,Not applicable
99329,"48,XYYY syndrome","Antenatal, Infancy, Neonatal",
99330,"49,XYYYY syndrome","Antenatal, Infancy, Neonatal",
99228,Mosaic monosomy X syndrome,"Antenatal, Childhood, Infancy, Neonatal",Not applicable
99324,Paternal uniparental disomy of chromosome 13 syndrome,"Antenatal, Neonatal",
99361,Isolated familial medullary thyroid carcinoma,,Autosomal dominant
99226,Monosomy X syndrome,"Antenatal, Childhood, Infancy, Neonatal",Not applicable
99179,Kandori fleck retina,"Adolescent, Adult, Childhood",
99172,Euryblepharon,Neonatal,Unknown
99657,"Primary dystonia, DYT2 type",Childhood,Autosomal recessive
99429,Complete androgen insensitivity syndrome,All ages,X-linked recessive
99642,"Spondyloepimetaphyseal dysplasia, Handigodu type","Adolescent, Adult, Childhood",
99413,Turner syndrome due to structural X chromosome anomalies,"Antenatal, Childhood, Infancy, Neonatal",
99646,Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,"Childhood, Infancy, Neonatal",Not applicable
99688,Dermotrichic syndrome,Neonatal,
592574,Menke-Hennekam syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
592564,GNAO1-related developmental delay-seizures-movement disorder spectrum,"Childhood, Infancy, Neonatal",Autosomal dominant
592570,TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome,"Antenatal, Neonatal",Autosomal dominant
99672,Fried's tooth and nail syndrome,"Antenatal, Infancy, Neonatal",
99718,Leber plus disease,"Adolescent, Adult, Childhood, Infancy",Mitochondrial inheritance
590539,Isolated melanotic schwannoma,"Adolescent, Adult, Childhood, Elderly",
99725,Pituitary gigantism,"Adolescent, Childhood, Infancy","Autosomal dominant, X-linked dominant"
589821,Congenital-onset Steinert myotonic dystrophy,"Antenatal, Neonatal",Autosomal dominant
589827,Juvenile-onset Steinert myotonic dystrophy,Childhood,Autosomal dominant
99701,Mesial temporal lobe epilepsy with hippocampal sclerosis,"Adolescent, Adult, Childhood, Elderly, Infancy",
589824,Childhood-onset Steinert myotonic dystrophy,"Childhood, Infancy",Autosomal dominant
589833,Late-onset Steinert myotonic dystrophy,Elderly,Autosomal dominant
589830,Adult-onset Steinert myotonic dystrophy,Adult,Autosomal dominant
99704,Early-onset obesity-hyperphagia-severe developmental delay syndrome,,Autosomal dominant
589905,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
589856,Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome,Neonatal,Autosomal dominant
99710,Punctate acrokeratoderma freckle-like pigmentation,Childhood,
99750,Atypical progressive supranuclear palsy syndrome,"Adult, Elderly",
99749,Kostmann syndrome,Neonatal,Autosomal recessive
99748,Pontiac fever,All ages,Not applicable
99757,Embryonal rhabdomyosarcoma,,Multigenic/multifactorial
99756,Alveolar rhabdomyosarcoma,,Multigenic/multifactorial
99734,Myotonia fluctuans,Childhood,Autosomal dominant
99731,Isolated sulfite oxidase deficiency,"Infancy, Neonatal",Autosomal recessive
99735,Myotonia permanens,Childhood,Autosomal dominant
99736,Acetazolamide-responsive myotonia,Childhood,Autosomal dominant
99741,King-Denborough syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
99742,Amish lethal microcephaly,"Antenatal, Infancy, Neonatal",Autosomal recessive
99739,Rare familial disorder with hypertrophic cardiomyopathy,,Autosomal dominant
99745,Typhoid,All ages,Not applicable
98820,Familial focal epilepsy with variable foci,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
98818,Landau-Kleffner syndrome,Childhood,"Autosomal dominant, Unknown"
98813,Hypohidrotic ectodermal dysplasia with immunodeficiency,"Infancy, Neonatal","Autosomal dominant, X-linked recessive"
98811,Paroxysmal exertion-induced dyskinesia,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Not applicable"
98810,Paroxysmal non-kinesigenic dyskinesia,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Not applicable"
98809,Paroxysmal kinesigenic dyskinesia,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Not applicable"
98808,Autosomal dominant dopa-responsive dystonia,Childhood,"Autosomal dominant, Not applicable"
98807,"Primary dystonia, DYT13 type","Adolescent, Childhood",Autosomal dominant
98838,Primary mediastinal large B-cell lymphoma,Adult,"Multigenic/multifactorial, Not applicable"
98833,Acute myeloblastic leukemia without maturation,Adult,Not applicable
98834,Acute myeloblastic leukemia with maturation,All ages,Not applicable
98831,Acute myeloid leukemia with 11q23 abnormalities,Childhood,
98832,Acute myeloid leukemia with minimal differentiation,Adult,Not applicable
98829,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),Adult,
98827,Unclassified myelodysplastic syndrome,All ages,Not applicable
98826,Myelodysplastic neoplasm with low blasts,"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
98823,Chronic myelomonocytic leukemia,Adult,Not applicable
98824,Atypical chronic myeloid leukemia,Adult,Not applicable
98851,Mast cell leukemia,All ages,Not applicable
98853,Autosomal dominant Emery-Dreifuss muscular dystrophy,Childhood,Autosomal dominant
98848,Indolent systemic mastocytosis,"Adult, Elderly",Not applicable
98850,Aggressive systemic mastocytosis,"Adult, Antenatal, Elderly, Neonatal",Not applicable
98849,Systemic mastocytosis with associated hematologic neoplasm,"Adult, Elderly",Not applicable
98844,"Classic Hodgkin lymphoma, mixed cellularity type",Adult,
98843,"Classic Hodgkin lymphoma, nodular sclerosis type",Adult,
98846,"Classic Hodgkin lymphoma, lymphocyte-depleted type",Adult,
98845,"Classic Hodgkin lymphoma, lymphocyte-rich type",Adult,
98839,Intravascular large B-cell lymphoma,,Not applicable
98842,Lymphomatoid papulosis,All ages,
98841,Anaplastic large cell lymphoma,All ages,Not applicable
589608,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",No data available,Not applicable
589595,Mixed phenotype acute leukemia with t(v;11q23.3),"Adolescent, Adult, Childhood, Infancy",Not applicable
98868,Southeast Asian ovalocytosis,All ages,Autosomal dominant
98869,Congenital dyserythropoietic anemia type I,"Adolescent, Adult, Childhood, Infancy, Neonatal",Autosomal recessive
589618,Dystonia 28,"Childhood, Infancy",Autosomal dominant
98870,Congenital dyserythropoietic anemia type III,All ages,"Autosomal dominant, Autosomal recessive"
589534,Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2),"Adolescent, Adult, Childhood, Elderly",Not applicable
98863,X-linked Emery-Dreifuss muscular dystrophy,Childhood,X-linked recessive
589527,Spinocerebellar ataxia type 45,Adult,Autosomal dominant
589547,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder","Childhood, Infancy, Neonatal",Autosomal dominant
589542,Myeloid/lymphoid neoplasm associated with JAK2 rearrangement,"Adolescent, Adult, Childhood, Elderly",
589442,Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
589435,Spondylometaphyseal dysplasia-corneal dystrophy syndrome,Neonatal,Autosomal recessive
589522,Spinocerebellar ataxia type 46,Adult,Autosomal dominant
589515,PUM1-associated developmental disability-ataxia-seizure syndrome,"Infancy, Neonatal",Autosomal dominant
98855,Autosomal recessive Emery-Dreifuss muscular dystrophy,Childhood,Autosomal recessive
98856,Charcot-Marie-Tooth disease type 2B1,Childhood,Autosomal recessive
98881,Familial dysfibrinogenemia,All ages,Autosomal dominant
98880,Familial afibrinogenemia,"Infancy, Neonatal",Autosomal recessive
98879,Hemophilia B,"Childhood, Infancy, Neonatal",X-linked recessive
98886,Bleeding diathesis due to integrin alpha2-beta1 deficiency,,Autosomal dominant
98885,Bleeding diathesis due to glycoprotein VI deficiency,,Autosomal recessive
98873,Congenital dyserythropoietic anemia type II,"Adolescent, Adult, Childhood, Elderly, Infancy, Neonatal",Autosomal recessive
98871,Transient erythroblastopenia of childhood,"Childhood, Infancy",
98878,Hemophilia A,"Childhood, Infancy, Neonatal",X-linked recessive
98897,Oculopharyngodistal myopathy,"Adolescent, Adult, Childhood","Autosomal dominant, Autosomal recessive"
98895,Becker muscular dystrophy,"Adolescent, Adult, Childhood, Elderly",X-linked recessive
98896,Duchenne muscular dystrophy,Childhood,X-linked recessive
98902,Amish nemaline myopathy,Neonatal,Autosomal recessive
98889,Bilateral perisylvian polymicrogyria,"Antenatal, Infancy, Neonatal",Autosomal recessive
98890,Early-onset X-linked optic atrophy,Childhood,X-linked recessive
98893,Congenital muscular dystrophy type 1B,"Infancy, Neonatal",Autosomal recessive
98892,Periventricular nodular heterotopia,Childhood,"Autosomal dominant, Autosomal recessive, X-linked dominant"
98912,"Late-onset distal myopathy, Markesbery-Griggs type",Adult,Autosomal dominant
98911,Distal myotilinopathy,"Adult, Elderly",Autosomal dominant
98914,Presynaptic congenital myasthenic syndromes,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
98913,Postsynaptic congenital myasthenic syndrome,"Infancy, Neonatal",Autosomal recessive
98916,Acute inflammatory demyelinating polyradiculoneuropathy,All ages,"Multigenic/multifactorial, Not applicable"
98915,Synaptic congenital myasthenic syndrome,"Infancy, Neonatal",Autosomal recessive
98918,Acute motor axonal neuropathy,All ages,"Multigenic/multifactorial, Not applicable"
98917,Acute motor and sensory axonal neuropathy,All ages,"Multigenic/multifactorial, Not applicable"
98904,Congenital myopathy with excess of thin filaments,,Autosomal dominant
98905,Congenital multicore myopathy with external ophthalmoplegia,"Infancy, Neonatal",Autosomal recessive
98908,Neutral lipid storage disease with myopathy,Adult,Autosomal recessive
98907,Neutral lipid storage disease with ichthyosis,"Infancy, Neonatal",Autosomal recessive
98909,Desminopathy,"Adolescent, Adult, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
98933,"Multiple system atrophy, parkinsonian type",Adult,Not applicable
98934,Huntington disease-like 2,Adult,Autosomal dominant
98919,Miller Fisher syndrome,All ages,"Multigenic/multifactorial, Not applicable"
98920,Spinal muscular atrophy with respiratory distress type 1,"Infancy, Neonatal",Autosomal recessive
98942,Coloboma of choroid and retina,,Autosomal dominant
98938,Colobomatous microphthalmia,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
98949,Complete cryptophthalmia,"Antenatal, Neonatal",
98950,Partial cryptophthalmia,"Antenatal, Neonatal",
98948,Congenital symblepharon,"Antenatal, Neonatal",
98957,Gelatinous drop-like corneal dystrophy,Childhood,Autosomal recessive
98956,Epithelial basement membrane dystrophy,,Autosomal dominant
98955,Lisch epithelial corneal dystrophy,Childhood,X-linked dominant
98954,Meesmann corneal dystrophy,Childhood,Autosomal dominant
98964,Lattice corneal dystrophy type I,All ages,Autosomal dominant
98963,Granular corneal dystrophy type II,Childhood,Autosomal dominant
98962,Granular corneal dystrophy type I,Childhood,Autosomal dominant
98961,Reis-Bücklers corneal dystrophy,Childhood,Autosomal dominant
98960,Thiel-Behnke corneal dystrophy,"Adolescent, Adult, Childhood",Autosomal dominant
98959,Subepithelial mucinous corneal dystrophy,Childhood,Autosomal dominant
98971,Posterior amorphous corneal dystrophy,"Infancy, Neonatal",Autosomal dominant
98972,Central cloudy dystrophy of François,Childhood,Autosomal dominant
98973,Posterior polymorphous corneal dystrophy,Childhood,Autosomal dominant
98974,Fuchs endothelial corneal dystrophy,Adult,"Autosomal dominant, Multigenic/multifactorial, Not applicable"
98967,Schnyder corneal dystrophy,All ages,Autosomal dominant
98969,Macular corneal dystrophy,All ages,Autosomal recessive
98970,Fleck corneal dystrophy,All ages,Autosomal dominant
98976,Congenital glaucoma,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
98977,Juvenile glaucoma,"Adolescent, Childhood",Autosomal dominant
98978,Axenfeld anomaly,"Childhood, Infancy, Neonatal",Autosomal dominant
98988,Early-onset anterior polar cataract,"Infancy, Neonatal",Autosomal dominant
98990,Coralliform cataract,"Infancy, Neonatal",Autosomal dominant
98989,Cerulean cataract,Childhood,Autosomal dominant
98984,Pulverulent cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
98985,Early-onset sutural cataract,"Infancy, Neonatal",Autosomal dominant
98995,Early-onset zonular cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
98992,Early-onset partial cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
98991,Early-onset nuclear cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
98994,Total early-onset cataract,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
98993,Early-onset posterior polar cataract,"Infancy, Neonatal",Autosomal dominant
99001,Butterfly-shaped pigment dystrophy,Adult,Autosomal dominant
99002,Reticular dystrophy of the retinal pigment epithelium,Adult,"Autosomal recessive, Unknown"
99000,Adult-onset foveomacular vitelliform dystrophy,Adult,"Autosomal dominant, Not applicable"
99003,Multifocal pattern dystrophy simulating fundus flavimaculatus,Adult,Autosomal dominant
99013,Spastic paraplegia type 7,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Autosomal recessive"
99014,X-linked Charcot-Marie-Tooth disease type 5,"Childhood, Infancy",X-linked recessive
99015,Spastic paraplegia type 2,Childhood,X-linked recessive
585867,Acute myeloid leukemia with t(9;22)(q34.1;q11.2),"Adolescent, Adult, Childhood, Elderly, Infancy, Neonatal",
585877,B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality,"Adolescent, Adult, Childhood, Elderly, Infancy",
585909,B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2),"Adolescent, Adult, Childhood, Elderly, Infancy",Not applicable
585936,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,"Adolescent, Adult, Childhood",
585942,B-lymphoblastic leukemia/lymphoma with hypodiploidy,"Adolescent, Adult, Childhood",
585918,B-lymphoblastic leukemia/lymphoma with t(v;11q23.3),"Adolescent, Adult, Childhood, Infancy",
585929,B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1),"Adolescent, Adult, Childhood",
99027,Adult-onset autosomal dominant leukodystrophy,Adult,Autosomal dominant
585956,B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3),"Adolescent, Adult, Childhood",
585948,B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3),"Adolescent, Adult, Childhood",
586130,Sporadic fatal insomnia,"Adult, Elderly",
99042,Congenitally uncorrected transposition of the great arteries with coarctation,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
99043,Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,,Multigenic/multifactorial
99045,Double outlet right ventricle with subpulmonary ventricular septal defect,,Multigenic/multifactorial
99046,Double outlet right ventricle with non-committed subpulmonary ventricular septal defect,,Multigenic/multifactorial
99050,Abnormal origin of right or left pulmonary artery from the aorta,"Infancy, Neonatal",
98606,Syndromic orbital border hypoplasia,Neonatal,
98555,Microphthalmia-anophthalmia-coloboma,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, X-linked recessive"
98676,Autosomal recessive isolated optic atrophy,"Childhood, Infancy, Neonatal",Autosomal recessive
98673,"Autosomal dominant optic atrophy, classic form","Adolescent, Adult, Childhood",Autosomal dominant
98672,Autosomal dominant optic atrophy,Childhood,Autosomal dominant
98627,Posterior corneal dystrophy,All ages,"Autosomal dominant, Autosomal recessive, X-linked recessive"
98626,Stromal corneal dystrophy,All ages,"Autosomal dominant, Autosomal recessive"
98625,Superficial corneal dystrophy,All ages,"Autosomal dominant, X-linked recessive"
98619,Rare isolated myopia,,"Autosomal dominant, Autosomal recessive"
583602,Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency,,Autosomal recessive
583607,Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency,,Autosomal recessive
583595,"Serine biosynthesis pathway deficiency, infantile/juvenile form","Antenatal, Infancy, Neonatal",
583612,Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency,,Autosomal recessive
583856,Isolated splenic vein thrombosis,"Adult, Elderly",
583861,Isolated mesenteric vein thrombosis,"Adult, Elderly",
98723,Hypoplastic right heart syndrome,Neonatal,
98686,Congenital trochlear nerve palsy,Neonatal,Not applicable
583097,Congenital infiltrating lipomatosis of the face,Neonatal,
98798,Isochromosomy Yq syndrome,"Adolescent, Adult",
98797,Isochromosomy Yp syndrome,"Adolescent, Adult",
98795,Angelman syndrome due to paternal uniparental disomy of chromosome 15,Infancy,
98794,Angelman syndrome due to maternal 15q11q13 deletion,Infancy,
98793,Prader-Willi syndrome due to paternal 15q11q13 deletion,"Antenatal, Neonatal",Autosomal dominant
98791,Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,"Infancy, Neonatal","Not applicable, Unknown"
98806,"Primary dystonia, DYT6 type","Adolescent, Adult, Childhood",Autosomal dominant
98805,"Primary dystonia, DYT4 type","Adolescent, Adult",Autosomal dominant
98784,Sleep-related hypermotor epilepsy,"Adolescent, Adult, Childhood",Autosomal dominant
98764,Spinocerebellar ataxia type 27A,"Adolescent, Adult",Autosomal dominant
98763,Spinocerebellar ataxia type 14,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
98766,Spinocerebellar ataxia type 5,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
98765,Spinocerebellar ataxia type 4,Adult,Autosomal dominant
98760,Spinocerebellar ataxia type 8,Adult,Autosomal dominant
98759,Spinocerebellar ataxia type 17,All ages,Autosomal dominant
98762,Spinocerebellar ataxia type 12,All ages,Autosomal dominant
98761,Spinocerebellar ataxia type 10,Adult,Autosomal dominant
98772,Spinocerebellar ataxia type 19/22,Adult,Autosomal dominant
98771,Spinocerebellar ataxia type 18,Adult,Autosomal dominant
98773,Spinocerebellar ataxia type 21,Adolescent,Autosomal dominant
98768,Spinocerebellar ataxia type 13,Adult,Autosomal dominant
98767,Spinocerebellar ataxia type 11,"Adolescent, Adult, Childhood, Elderly",Autosomal dominant
98769,Spinocerebellar ataxia type 15/16,"Adult, Elderly",Autosomal dominant
580940,QRICH1-related intellectual disability-chondrodysplasia syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
580951,Punctate inner choroidopathy,Adult,
580933,Lethal brain and heart developmental defects,Antenatal,Autosomal recessive
98755,Spinocerebellar ataxia type 1,All ages,Autosomal dominant
98756,Spinocerebellar ataxia type 2,All ages,Autosomal dominant
98757,Spinocerebellar ataxia type 3,"Adult, Childhood",Autosomal dominant
98758,Spinocerebellar ataxia type 6,"Adolescent, Adult, Elderly",Autosomal dominant
581271,Cramp-fasciculation syndrome,Adult,Autosomal dominant
98754,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,"Adolescent, Adult",Not applicable
98352,Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature,,Autosomal dominant
98353,Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature,,Autosomal dominant
98356,Autosomal recessive isolated diffuse palmoplantar keratoderma,,Autosomal recessive
98357,Autosomal recessive disease with focal palmoplantar keratoderma as a major feature,,Autosomal recessive
580572,Intraductal tubulopapillary neoplasm of pancreas,"Adult, Elderly",
98349,Autosomal dominant isolated diffuse palmoplantar keratoderma,,Autosomal dominant
98306,Familial partial lipodystrophy,"Adolescent, Adult, Childhood, Elderly","Autosomal dominant, Autosomal recessive"
576232,Partial atrioventricular septal defect with ventricular hypoplasia,,Not applicable
576235,Partial atrioventricular septal defect without ventricular hypoplasia,,Not applicable
576074,Middle East respiratory syndrome,All ages,
575553,Cathepsin A-related arteriopathy-strokes-leukoencephalopathy,Adult,Autosomal dominant
576379,Iatrogenic Creutzfeldt-Jakob disease,Adult,
576349,NLRC4-related familial cold autoinflammatory syndrome,"Childhood, Infancy",Autosomal dominant
576370,Variant Creutzfeldt-Jakob disease,Adult,
576283,SATB2-associated syndrome due to a pathogenic variant,"Antenatal, Infancy, Neonatal",Autosomal dominant
576278,SATB2-associated syndrome,"Infancy, Neonatal",Autosomal dominant
573253,Split cord malformation type II,"Adolescent, Adult, Childhood, Infancy",
574957,Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency,All ages,Autosomal recessive
574918,Predisposition to severe viral infection due to IRF7 deficiency,All ages,Autosomal recessive
98375,Autoimmune hemolytic anemia,All ages,Multigenic/multifactorial
573278,Split cord malformation,"Adolescent, Adult, Childhood, Infancy",
572385,Brachydactyly type B1,Antenatal,Autosomal dominant
572361,Blepharophimosis-ptosis-epicanthus inversus syndrome type 2,Antenatal,Autosomal dominant
98428,Secondary polycythemia,All ages,"Autosomal dominant, Autosomal recessive"
572428,Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia,Infancy,Autosomal dominant
98434,Hereditary combined deficiency of vitamin K-dependent clotting factors,"Adolescent, Adult, Infancy, Neonatal",Autosomal recessive
572543,RFVT2-related riboflavin transporter deficiency,"Childhood, Infancy",Autosomal recessive
572550,RFVT3-related riboflavin transporter deficiency,"Adolescent, Adult, Childhood, Infancy",Autosomal recessive
572773,Microcephaly-short stature-limb abnormalities syndrome,Antenatal,Autosomal recessive
572798,WARS2-related combined oxidative phosphorylation defect,"Infancy, Neonatal",Autosomal recessive
572761,DONSON-related microcephaly-short stature-limb abnormalities spectrum,"Antenatal, Neonatal",Autosomal recessive
572768,Microcephaly-micromelia syndrome,Antenatal,Autosomal recessive
98523,Non-syndromic pontocerebellar hypoplasia,"Antenatal, Infancy, Neonatal",Autosomal recessive
572013,Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome,Infancy,Autosomal dominant
572333,Blepharophimosis-ptosis-epicanthus inversus syndrome plus,Antenatal,
572354,Blepharophimosis-ptosis-epicanthus inversus syndrome type 1,Antenatal,Autosomal recessive
570762,Infective endocarditis,All ages,
570491,QRSL1-related combined oxidative phosphorylation defect,"Antenatal, Infancy, Neonatal",Autosomal recessive
570470,Ricin poisoning,All ages,Not applicable
570438,HHV-8-associated multicentric Castleman disease,All ages,
570431,Idiopathic multicentric Castleman disease,All ages,
570422,Galactose mutarotase deficiency,"Infancy, Neonatal",Autosomal recessive
570371,Bartter syndrome type 5,Antenatal,X-linked recessive
708684,Eosinophilic cystitis,All ages,
708895,Tetrahydrobiopterin-unresponsive phenylketonuria,,Autosomal recessive
708203,Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome,,X-linked dominant
708208,Developmental delay-white matter abnormalities-strabismus-recurrent respiratory tract infections syndrome,,Autosomal dominant
714385,Global developmental delay-high pain tolerance-intellectual disability syndrome,,Autosomal dominant
714160,Presumed ocular histoplasmosis syndrome,,Not applicable
714070,"Incomplete congenital stationary night blindness, Schubert-Bornschein type",,"Autosomal recessive, X-linked recessive"
714046,Primary choroidal lymphoma,,Not applicable
714101,Acute idiopathic maculopathy,,Not applicable
714096,"Congenital stationary night blindness, Riggs type",,"Autosomal dominant, Autosomal recessive"
714090,"Congenital stationary night blindness, Schubert-Bornschein type",,"Autosomal recessive, X-linked recessive"
714484,AGR2-related infantile-onset inflammatory bowel disease,,Autosomal recessive
714487,Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome,,Autosomal recessive
714477,Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome,,Autosomal recessive
714481,SCGN-related severe early-onset hereditary ulcerative colitis,,Autosomal recessive
714496,Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome,,Autosomal recessive
714652,PCDH19 clustering epilepsy,,X-linked dominant
714490,PERCC1-related congenital intractable malabsorptive diarrhea,,Autosomal recessive
714493,Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency,,Autosomal recessive
714407,Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation,,Autosomal dominant
714410,CARD8-related inflammatory bowel disease,,Autosomal dominant
714399,Global developmental delay-dental enamel defects-ataxia syndrome,,Autosomal dominant
714404,Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome,,Autosomal dominant
714472,Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome,,Autosomal dominant
714423,Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome,,Autosomal dominant
715128,Hemoglobin E-beta-thalassemia major,,Autosomal recessive
715125,Hemoglobin E-beta-thalassemia intermedia,,Autosomal recessive
714806,Multifocal sporadic venous malformation,,Not applicable
714726,Retroperitoneal arteriovenous malformation,,Not applicable
714715,Pelvic arteriovenous malformation,,Not applicable
714737,Diffuse capillary malformation with overgrowth,,Not applicable
714709,Mediastinal arteriovenous malformation,,Not applicable
715326,Spinal epidural arteriovenous malformation,,Unknown
715331,Paraspinal arteriovenous malformation,,Not applicable
715302,Spinal pial arteriovenous fistula,,Not applicable
715318,Acquired intracranial dural arteriovenous fistula,,Not applicable
715154,Low oxygen affinity alpha chain hemoglobin disease,,Autosomal dominant
715157,Low oxygen affinity beta chain hemoglobin disease,,Autosomal dominant
715284,Spinal cord arteriovenous malformation,,Not applicable
715135,Hemoglobin Lepore-beta-thalassemia intermedia,,Autosomal recessive
715140,Hemoglobin Lepore-beta-thalassemia major,,Autosomal recessive
715143,Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene,,Autosomal recessive
715147,Low oxygen affinity hemoglobin disease,,Autosomal dominant
715640,Rothmund-Thomson syndrome type 3,,Autosomal recessive
715635,Rothmund-Thomson syndrome type 4,,Autosomal recessive
715623,Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome,,Autosomal recessive
715345,Isolated geographic pattern capillary malformation,,Not applicable
716742,Congenital myasthenic syndrome with kinetic defect,,"Autosomal dominant, Autosomal recessive"
716772,Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance,,Autosomal recessive
716758,Fast-channel congenital myasthenic syndrome,,"Autosomal dominant, Autosomal recessive"
716765,Slow-channel congenital myasthenic syndrome,,"Autosomal dominant, Autosomal recessive"
716899,Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis,,"Autosomal dominant, Autosomal recessive"
716893,Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine,,Autosomal recessive
716889,Congenital myasthenic syndromes due to defective axonal transport,,Autosomal recessive
716881,Congenital myasthenic syndrome due to a sodium channel 1.4 defect,,Autosomal recessive
716908,Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis,,Autosomal dominant
716903,Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis,,Autosomal recessive
718017,Combined immunodeficiency due to COPG1 deficiency,,Autosomal recessive
694946,Alazami-Yuan syndrome,,Autosomal recessive
694956,Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome,,Autosomal dominant
695020,Urachal carcinoma,,Not applicable
694356,ADAR-related hereditary spastic paraplegia,,Autosomal dominant
694937,Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency,,Autosomal recessive
694922,Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome,,Autosomal recessive
693912,EPHB4-related capillary malformation-arteriovenous malformation,,Autosomal dominant
693907,RASA1-related capillary malformation-arteriovenous malformation,,Autosomal dominant
694308,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation,,Autosomal dominant
694304,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome,,Autosomal dominant
694228,Congenital intrahepatic arterioportal fistula,,Not applicable
696189,Congenital generalized lipodystrophy type 1,,Autosomal recessive
696206,Congenital generalized lipodystrophy type 3,,Autosomal recessive
696242,PPARG-associated congenital generalized lipodystrophy,,Autosomal recessive
696289,Congenital generalized lipodystrophy type 2,,Autosomal recessive
695783,EDEM3-CDG,,Autosomal recessive
695807,Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome,,Autosomal dominant
696063,PLIN4-related distal myopathy,,Autosomal dominant
696078,Central giant cell granuloma,,Not applicable
695147,Sickle cell-beta plus-thalassemia,,Autosomal recessive
695183,Late-onset combined immunodeficiency due to ICOS deficiency,,Autosomal recessive
695172,Combined immunodeficiency due to dimerization defective IKAROS mutation,,Autosomal dominant
695611,3q26q28 deletion syndrome,,Autosomal dominant
695023,Pure squamous carcinoma of the urothelial tract,,Not applicable
695131,Acinar cystic transformation of the pancreas,,Not applicable
695110,MAN2B2-CDG,,Autosomal recessive
695140,Sickle cell-beta zero-thalassemia,,Autosomal recessive
104077,Myopathic intestinal pseudoobstruction,,Unknown
697091,Emergomycosis,,Not applicable
697096,Cryptosporidiosis,,Not applicable
104075,Adenocarcinoma of the small intestine,Adult,Not applicable
697053,Talaromycosis,,Not applicable
697067,Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome,,Autosomal recessive
696942,Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency,,Autosomal recessive
696945,X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency,,X-linked recessive
696931,Common variable immunodeficiency phenotype due to TWEAK deficiency,,Autosomal dominant
696925,Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency,,Autosomal recessive
103919,Autoimmune pancreatitis,,Not applicable
696907,Common variable immunodeficiency phenotype due to homozygous TACI deficiency,,Autosomal recessive
103918,Tropical pancreatitis,Childhood,
696904,Common variable immunodeficiency phenotype due to IRF2BP2 deficiency,,Autosomal dominant
696894,Common variable immunodeficiency phenotype due to CD21 deficiency,,Autosomal recessive
103910,Congenital enterocyte heparan sulfate deficiency,"Infancy, Neonatal",
103908,Congenital sodium diarrhea,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive"
696881,Common variable immunodeficiency phenotype due to CD19/CD81 deficiency,,Autosomal recessive
103909,Trehalase deficiency,"Adolescent, Adult",Autosomal dominant
696874,NFKB1-related immune dysregulation,,Autosomal dominant
103907,Chronic diarrhea due to glucoamylase deficiency,Childhood,
102724,Acute myeloid leukemia with t(8;21)(q22;q22) translocation,"Adolescent, Adult, Childhood",
698043,Fibromuscular dysplasia of the renal arteries,,Not applicable
698059,Fibromuscular dysplasia of the coronary arteries,,Not applicable
698063,Fibromuscular dysplasia of the visceral arteries,,Not applicable
698069,Fibromuscular dysplasia of the arteries of the extremities,,Not applicable
698036,Fibromuscular dysplasia of the cervical and intracranial arteries,,Not applicable
697760,Intellectual disability-nasal speech-craniofacial dysmorphism syndrome,,Autosomal dominant
697764,Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation,,Autosomal dominant
697414,Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation,,Autosomal dominant
697734,ST3GAL3-CDG,,Autosomal recessive
697417,Common variable immunodeficiency phenotype due to SEC61A1 deficiency,,Autosomal dominant
697394,Combined immunodeficiency due to c-REL deficiency,,Autosomal recessive
697403,Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency,,Autosomal dominant
697356,Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome,,Autosomal dominant
697389,Combined immunodeficiency due to HELIOS deficiency,,"Autosomal dominant, Autosomal recessive"
697385,Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency,,Autosomal dominant
697160,Infantile epileptic spasms syndrome,,"Autosomal dominant, Autosomal recessive, X-linked dominant"
699590,Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency,,Autosomal recessive
699578,Combined immunodeficiency with low Ig due to BCL10 deficiency,,Autosomal recessive
699605,NEMO deleted exon 5 autoinflammatory syndrome,,"X-linked dominant, X-linked recessive"
699599,ICHAD syndrome,,Autosomal dominant
699618,Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency,,Autosomal recessive
699615,Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency,,Autosomal recessive
102006,Neurovascular malformation,All ages,
699678,Necrotizing cellulitis,,Not applicable
698260,Carotid web,,Not applicable
698085,Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome,,Autosomal recessive
698090,Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome,,Autosomal dominant
699068,Fontan-associated liver disease,,Not applicable
699850,2p25.3 microduplication syndrome,,Autosomal dominant
700111,Homozygous hemoglobin O Arab disease,,Autosomal recessive
700133,Idiopathic chronic pancreatitis,,Not applicable
700124,Autosomal recessive hereditary chronic pancreatitis,,Autosomal recessive
700139,Late-onset idiopathic chronic pancreatitis,,Not applicable
700136,Early-onset idiopathic chronic pancreatitis,,Not applicable
699697,Necrotizing fasciitis,,Not applicable
699702,Necrotizing myositis,,Not applicable
699718,Infantile CLN1 disease,,Autosomal recessive
699734,Late infantile CLN1 disease,,Autosomal recessive
102015,Autosomal recessive limb-girdle muscular dystrophy,,Autosomal recessive
699739,Juvenile CLN1 disease,,Autosomal recessive
699745,Adult CLN1 disease,,Autosomal recessive
102014,Autosomal dominant limb-girdle muscular dystrophy,,Autosomal dominant
699751,Infantile CLN2 disease,,Autosomal recessive
699761,Late infantile CLN2 disease,,Autosomal recessive
699769,Juvenile CLN2 disease,,Autosomal recessive
699780,Juvenile CLN3 disease,,Autosomal recessive
699796,Protracted juvenile CLN3 disease,,Autosomal recessive
699807,Juvenile CLN5 disease,,Autosomal recessive
699812,Adult CLN5 disease,,Autosomal recessive
700508,Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy,,Autosomal recessive
700497,Juvenile CLN10 disease,,Autosomal recessive
700492,Late infantile CLN10 disease,,Autosomal recessive
700487,Congenital CLN10 disease,,Autosomal recessive
700484,Late infantile CLN8 disease,,Autosomal recessive
700477,Adult CLN6 disease,,Autosomal recessive
101685,Rare non-syndromic intellectual disability,"Childhood, Infancy","Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive"
700472,Juvenile CLN6 disease,,Autosomal recessive
700188,Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy,,Autosomal dominant
101351,Familial isolated congenital asplenia,,Autosomal dominant
700170,DNAJB4-related distal myopathy,,Autosomal dominant
700163,SMPX-related distal myopathy,,X-linked recessive
700154,TARDBP-related predominantly upper-limb distal myopathy,,Autosomal dominant
700467,Late infantile CLN6 disease,,Autosomal recessive
700333,Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency,,Autosomal recessive
700336,Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency,,Autosomal recessive
700325,NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome,,X-linked recessive
700205,Combined immunodeficiency due to IKBKB gain-of-function mutation,,Autosomal dominant
708043,Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples,,Autosomal dominant
708036,Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth,,Autosomal recessive
708019,Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome,,Autosomal dominant
708171,Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy,,Autosomal recessive
708166,Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome,,Autosomal recessive
708178,Global developmental delay-speech apraxia-facial dysmorphism-limb and palpebral anomalies syndrome,,Autosomal dominant
708126,DNAJB6-related distal myopathy,,Autosomal dominant
708123,Autosomal dominant distal nebulin myopathy,,Autosomal dominant
708133,Autosomal dominant ACTN2-related distal myopathy,,Autosomal dominant
708129,Autosomal recessive ACTN2-related distal myopathy,,Autosomal recessive
707792,Unstable gamma globin chain variant disease,,Autosomal dominant
707937,Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome,,Autosomal recessive
101959,Chronic primary adrenal insufficiency,All ages,Multigenic/multifactorial
707983,Early-onset autosomal recessive TTN-related distal myopathy,,Autosomal recessive
707789,Unstable alpha globin chain variant disease,,Autosomal dominant
664511,"Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency",,Autosomal recessive
101150,Autosomal recessive dopa-responsive dystonia,"Infancy, Neonatal",Autosomal recessive
664500,Hermansky-Pudlak syndrome due to AP3B1 deficiency,,Autosomal recessive
101111,Spinocerebellar ataxia type 25,All ages,Autosomal dominant
101112,Spinocerebellar ataxia type 26,Adult,Autosomal dominant
101109,Spinocerebellar ataxia type 28,Childhood,Autosomal dominant
664438,Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome,,Autosomal dominant
101110,Spinocerebellar ataxia type 20,Adult,Autosomal dominant
101108,Spinocerebellar ataxia type 23,Adult,Autosomal dominant
664430,Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome,,Autosomal recessive
664416,Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation,,Autosomal dominant
664410,Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome,,"Autosomal dominant, Not applicable"
101334,African tick typhus,,Not applicable
664912,Neonatal renal venous thrombosis,"Antenatal, Neonatal",
101330,Porphyria cutanea tarda,Adult,"Autosomal dominant, Multigenic/multifactorial"
664901,Trigeminal trophic syndrome,"Adult, Elderly",
664729,EBV-induced lymphoproliferative disease due to TET2 deficiency,Childhood,Autosomal recessive
664726,EBV-induced lymphoproliferative disease due to CD137 deficiency,Childhood,Autosomal recessive
101206,Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome,"Antenatal, Neonatal",
664711,EBV-induced lymphoproliferative disease due to PRKCD deficiency,,Autosomal recessive
664699,EBV-induced lymphoproliferative disease due to RASGRP1 deficiency,,Autosomal recessive
662473,Isolated duodenal duplication,,Not applicable
101085,Charcot-Marie-Tooth disease type 1F,"Childhood, Infancy",Autosomal dominant
662456,Isolated small intestine duplication,"Infancy, Neonatal",Not applicable
662480,Isolated jejuno-ileal duplication,,Not applicable
101088,X-linked hyper-IgM syndrome,,X-linked recessive
662388,Isolated gallbladder duplication,,Not applicable
101081,Charcot-Marie-Tooth disease type 1A,Childhood,Autosomal dominant
662376,Isolated gastric duplication,"Adult, Childhood, Infancy, Neonatal",Not applicable
101082,Charcot-Marie-Tooth disease type 1B,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
662405,Isolated pyloric duplication,Neonatal,Not applicable
101083,Charcot-Marie-Tooth disease type 1C,"Adolescent, Adult, Childhood",Autosomal dominant
662392,Isolated colonic duplication,,Not applicable
101084,Charcot-Marie-Tooth disease type 1D,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
662240,Frey syndrome,Infancy,Not applicable
101077,X-linked Charcot-Marie-Tooth disease type 3,"Adolescent, Childhood",X-linked recessive
101078,X-linked Charcot-Marie-Tooth disease type 4,"Childhood, Infancy, Neonatal",X-linked recessive
662234,Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome,,Autosomal dominant
662367,NESCAV syndrome,"Childhood, Infancy",Autosomal dominant
662255,Grisel syndrome,Childhood,Not applicable
662216,Mucopolysaccharidosis type 10,Childhood,Autosomal recessive
662207,Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome,Infancy,Autosomal dominant
101075,X-linked Charcot-Marie-Tooth disease type 1,Childhood,X-linked dominant
101076,X-linked Charcot-Marie-Tooth disease type 2,"Childhood, Infancy",X-linked recessive
101102,Charcot-Marie-Tooth disease type 2H,Childhood,Autosomal recessive
664401,Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation,,Autosomal dominant
101101,Charcot-Marie-Tooth disease type 2B2,Adult,Autosomal recessive
664404,6q25.1 microdeletion syndrome,,Not applicable
101097,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,"Infancy, Neonatal",Autosomal recessive
662762,Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome,,Autosomal dominant
101090,Hyper-IgM syndrome type 3,,Autosomal recessive
101089,Hyper-IgM syndrome type 2,,Autosomal recessive
662829,Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome,,Autosomal dominant
101092,Hyper-IgM syndrome type 5,,Autosomal recessive
675362,Hobnail hemangioma,All ages,
675359,Anastomosing haemangioma,"Adolescent, Adult, Elderly, Infancy",
675216,Spinocerebellar ataxia type 27B,,Autosomal dominant
101049,Familial hypocalciuric hypercalcemia type 2,,Autosomal dominant
101050,Familial hypocalciuric hypercalcemia type 3,,Autosomal dominant
675369,Microvenular haemangioma,Adult,
674943,Isolated angioid streaks,"Adult, Elderly",
674935,Torpedo Maculopathy,All ages,
674930,Perifoveal exudative vascular anomalous complex,,Unknown
101041,Familial hypofibrinogenemia,All ages,Autosomal dominant
674965,Choroidal osteoma,All ages,
674958,Stellate multiform amelanotic choroidopathy,Adult,
101046,Epilepsy with auditory features,"Adolescent, Adult, Childhood",Autosomal dominant
101068,Congenital stromal corneal dystrophy,Neonatal,Autosomal dominant
675767,Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency,,Autosomal dominant
101071,Unilateral hemispheric polymicrogyria,"Antenatal, Infancy, Neonatal",
101070,Bilateral frontoparietal polymicrogyria,"Antenatal, Infancy, Neonatal",Autosomal recessive
675597,Acquired elastotic haemangioma,"Adult, Elderly",
675404,May-Thurner syndrome,,Not applicable
675628,TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome,,X-linked recessive
101063,Situs inversus totalis,,"Autosomal dominant, Autosomal recessive, Not applicable"
667678,Intraoral basal cell carcinoma,,Not yet documented
667662,Breast implant-associated anaplastic large cell lymphoma,"Adult, Elderly",Not applicable
101009,Autosomal dominant spastic paraplegia type 29,Adolescent,Autosomal dominant
101010,Autosomal spastic paraplegia type 30,"Adolescent, Adult","Autosomal dominant, Autosomal recessive"
101011,Autosomal dominant spastic paraplegia type 31,Childhood,Autosomal dominant
101016,Romano-Ward syndrome,All ages,"Autosomal dominant, Autosomal recessive"
674653,Actinomyopathy-associated syndromic thrombocytopenia,,Autosomal dominant
674762,Early-onset autoinflammatory syndrome due to A20 haploinsufficiency,,Autosomal dominant
101028,Transaldolase deficiency,"Antenatal, Infancy, Neonatal",Autosomal recessive
101030,Subependymal nodular heterotopia,"Antenatal, Infancy, Neonatal",
101029,Sub-cortical nodular heterotopia,"Antenatal, Infancy, Neonatal",
100984,Autosomal dominant spastic paraplegia type 3,"Adult, Childhood",Autosomal dominant
685067,Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome,,Autosomal recessive
685017,Combined immunodeficiency due to TBX1 deficiency,"Infancy, Neonatal",Autosomal dominant
100982,Autosomal recessive pure spastic paraplegia,,Autosomal recessive
100981,Autosomal recessive complex spastic paraplegia,,Autosomal recessive
100980,Autosomal dominant pure spastic paraplegia,,Autosomal dominant
685010,Mesothelioma of the tunica vaginalis,Elderly,
100979,Autosomal dominant complex spastic paraplegia,,Autosomal dominant
100978,Cloverleaf skull-asphyxiating thoracic dysplasia syndrome,Neonatal,
686468,Post 5-alpha-reductase inhibitors treatment syndrome,,Not applicable
686475,Post-selective serotonin reuptake inhibitor sexual dysfunction,,Not applicable
100991,Autosomal dominant spastic paraplegia type 10,"Adolescent, Adult, Childhood",Autosomal dominant
686462,Non-fibrotic hypersensitivity pneumonitis,,Not applicable
686465,Fibrotic hypersensitivity pneumonitis,,Not applicable
100989,Autosomal dominant spastic paraplegia type 8,"Adolescent, Adult",Autosomal dominant
100988,Autosomal dominant spastic paraplegia type 6,"Adolescent, Adult, Childhood",Autosomal dominant
100986,Autosomal recessive spastic paraplegia type 5A,"Adolescent, Childhood",Autosomal recessive
100985,Autosomal dominant spastic paraplegia type 4,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
687424,ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion,,Autosomal dominant
100999,Autosomal dominant spastic paraplegia type 19,Adult,Autosomal dominant
101000,Autosomal recessive spastic paraplegia type 20,Infancy,Autosomal recessive
686999,Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome,,Autosomal recessive
100997,X-linked spastic paraplegia type 16,Infancy,X-linked recessive
686556,Isolated congenital cholesteatoma of the middle ear,,Unknown
100998,Autosomal dominant spastic paraplegia type 17,"Adolescent, Adult, Childhood",Autosomal dominant
100995,Autosomal recessive spastic paraplegia type 14,Adult,Autosomal recessive
686495,MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome,Infancy,Autosomal recessive
100996,Kjellin syndrome,"Adolescent, Adult, Childhood",Autosomal recessive
686488,RNU4-2-related autosomal dominant neurodevelopmental disorder,"Antenatal, Neonatal",Autosomal dominant
100993,Autosomal dominant spastic paraplegia type 12,"Adolescent, Adult, Childhood",Autosomal dominant
686482,BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome,,Autosomal dominant
100994,Autosomal dominant spastic paraplegia type 13,"Adolescent, Adult",Autosomal dominant
101007,Autosomal recessive spastic paraplegia type 27,"Adolescent, Adult",Autosomal recessive
688543,Reticular dysgenesis-like severe combined immunodeficiency,,Autosomal dominant
101008,Autosomal recessive spastic paraplegia type 28,"Adolescent, Childhood, Infancy",Autosomal recessive
688523,Splenic venous malformation,,Not applicable
101005,Autosomal recessive spastic paraplegia type 25,Adult,Autosomal recessive
101006,Autosomal recessive spastic paraplegia type 26,"Adolescent, Childhood",Autosomal recessive
687741,Multisystem Langerhans cell histiocytosis,,Not applicable
687738,Single-system multifocal Langerhans cell histiocytosis,,Not applicable
101003,Autosomal recessive spastic paraplegia type 23,Childhood,Autosomal recessive
687733,Pulmonary Langerhans cell histiocytosis,,Not applicable
101004,Autosomal recessive spastic paraplegia type 24,Infancy,Autosomal recessive
687730,Unifocal Langerhans cell histiocytosis,,Not applicable
101001,Autosomal recessive spastic paraplegia type 21,"Adolescent, Adult, Childhood",Autosomal recessive
687695,10p13-p14 deletion syndrome,,Not applicable
100088,Rare thyroid carcinoma,Adult,
100085,Primary hepatic neuroendocrine carcinoma,Adult,Not applicable
675775,Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome,,Autosomal recessive
100084,Middle ear neuroendocrine tumor,"Adolescent, Adult, Elderly",
675782,Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN,Infancy,Autosomal recessive
100086,Gallbladder neuroendocrine tumor,Adult,
676039,Combined immunodeficiency due to FOXN1 haploinsufficiency,"Childhood, Infancy, Neonatal",Autosomal dominant
676125,X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency,Infancy,X-linked recessive
100093,Carcinoid syndrome,All ages,Not applicable
100924,Porphyria due to ALA dehydratase deficiency,"Adolescent, Childhood",Autosomal recessive
684216,Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome,,"Autosomal dominant, Autosomal recessive"
684305,Neurooculocardiogenitourinary syndrome,"Infancy, Neonatal",Autosomal dominant
100973,FRAXE intellectual disability,"Antenatal, Infancy, Neonatal",X-linked recessive
100974,FRAXF syndrome,"Antenatal, Infancy, Neonatal",Unknown
684752,Isolated anal canal duplication,Childhood,
684742,2q13 microdeletion syndrome,,Autosomal dominant
100976,Bathing suit ichthyosis,"Infancy, Neonatal",Autosomal recessive
684232,Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome,,Autosomal dominant
684226,Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome,"Infancy, Neonatal",Autosomal dominant
684247,Isolated growth hormone deficiency type IV,,Autosomal recessive
684240,Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome,,Autosomal recessive
100054,F12-related hereditary angioedema with normal C1Inh,Adult,Autosomal dominant
100051,Hereditary angioedema type 2,All ages,Autosomal dominant
100057,Renin-angiotensin-aldosterone system-blocker-induced angioedema,Adult,"Multigenic/multifactorial, Not applicable"
692173,Marbach-Schaaf neurodevelopmental syndrome,"Infancy, Neonatal",Autosomal dominant
100056,Acquired angioedema type 1,Adult,Not applicable
100055,Acquired angioedema type 2,Adult,Not applicable
692271,Cerebral proliferative angiopathy,"Adolescent, Adult, Childhood",
692296,Idiopathic triglyceride deposit cardiomyovasculopathy,,Unknown
692193,CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome,"Childhood, Infancy",Autosomal dominant
692256,Isolated anogenital granulomatosis,"Adolescent, Adult, Childhood, Elderly",
692812,RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome,Infancy,"Autosomal dominant, Autosomal recessive"
693549,Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome,,Autosomal dominant
692305,Triglyceride deposit cardiomyovasculopathy,,"Autosomal recessive, Unknown"
692790,ATP6AP1-CDG,"Antenatal, Infancy, Neonatal",X-linked recessive
100069,Semantic dementia,Adult,"Multigenic/multifactorial, Not applicable"
693627,Agammaglobulinemia-skin involvement-failure to thrive syndrome,,Autosomal recessive
100070,Progressive non-fluent aphasia,Adult,"Multigenic/multifactorial, Not applicable"
693681,Activated PI3K-delta syndrome 2,,Autosomal dominant
100073,Neurogenic thoracic outlet syndrome,All ages,Not applicable
100075,Neuroendocrine tumor of stomach,"Adult, Elderly",Not applicable
693661,Activated PI3K-delta syndrome 1,,Autosomal dominant
100071,Mosaic trisomy 3 syndrome,"Antenatal, Neonatal",
693647,Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome,,Autosomal recessive
100078,Ileal neuroendocrine tumor,Adult,Not applicable
693832,Gastrointestinal tract arteriovenous malformation,,Not applicable
693826,Pancreatic arteriovenous malformation,,Not applicable
100079,Neuroendocrine neoplasm of appendix,Adult,
100077,Jejunal neuroendocrine tumor,Adult,
100082,Neuroendocrine tumor of anal canal,"Adult, Elderly",
693863,Splenic arteriovenous malformation,,Not applicable
693855,Visceral arteriovenous malformation,,Not applicable
100083,Laryngeal neuroendocrine tumor,Adult,
100080,Neuroendocrine tumor of the colon,"Adult, Elderly",
693846,Hepatic arteriovenous malformation,,Not applicable
693839,Renal arteriovenous malformation,,Not applicable
100081,Neuroendocrine tumor of the rectum,Adult,
100020,Myelodysplastic neoplasm with increased blasts type 2,Adult,Not applicable
100019,Myelodysplastic neoplasm with increased blasts type 1,Adult,Not applicable
688581,Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome,,X-linked recessive
688594,Combined immunodeficiency due to RELB deficiency,Infancy,Autosomal recessive
688642,Turnpenny-Fry syndrome,,Autosomal dominant
100024,Mu-heavy chain disease,Adult,
688649,Isolated adrenal medullary hyperplasia,,Not applicable
100026,Gamma-heavy chain disease,Adult,
100025,Alpha-heavy chain disease,"Adolescent, Adult",
688995,Scarlet fever,,Not applicable
689021,Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome,,Autosomal recessive
100032,Hypocalcified amelogenesis imperfecta,,"Autosomal dominant, Autosomal recessive"
100031,Hypoplastic amelogenesis imperfecta,,"Autosomal dominant, Autosomal recessive, X-linked dominant"
100034,Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,,Autosomal dominant
100033,Hypomaturation amelogenesis imperfecta,,"Autosomal recessive, X-linked dominant"
689231,IFIH1-related hereditary spastic paraplegia,,Autosomal dominant
689234,RNASEH2B-related hereditary spastic paraplegia,"Infancy, Neonatal",Autosomal recessive
689401,Acquired hypothalamic obesity,,Not applicable
689397,Poirier-Bienvenu neurodevelopmental syndrome,"Infancy, Neonatal",Autosomal recessive
689408,Shashi-Pena syndrome,,Autosomal dominant
689430,Adenoid ameloblastoma,,Not applicable
689422,Okur-Chung neurodevelopmental syndrome,,Autosomal dominant
100043,Autosomal dominant intermediate Charcot-Marie-Tooth disease type A,Adult,Autosomal dominant
100044,Autosomal dominant intermediate Charcot-Marie-Tooth disease type B,"Adolescent, Adult, Childhood",Autosomal dominant
100045,Autosomal dominant intermediate Charcot-Marie-Tooth disease type C,"Adolescent, Adult, Childhood",Autosomal dominant
689829,Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome,Neonatal,"Autosomal dominant, Autosomal recessive"
100046,Autosomal dominant intermediate Charcot-Marie-Tooth disease type D,Adult,Autosomal dominant
689822,Structural heart defects-renal anomalies syndrome,"Antenatal, Neonatal",Autosomal recessive
100050,Hereditary angioedema type 1,All ages,Autosomal dominant
100016,Lissencephaly with cerebellar hypoplasia type F,"Antenatal, Neonatal",
100015,Lissencephaly with cerebellar hypoplasia type E,"Antenatal, Neonatal",
647667,Mandibuloacral dysplasia associated to MTX2,Childhood,Autosomal recessive
647676,Multiple epiphyseal dysplasia type 7,Childhood,
646113,Intermediate collagen VI-related muscular dystrophy,,"Autosomal dominant, Autosomal recessive"
100012,Lissencephaly with cerebellar hypoplasia type B,"Antenatal, Infancy, Neonatal",
100011,Lissencephaly with cerebellar hypoplasia type A,"Antenatal, Neonatal",
100014,Lissencephaly with cerebellar hypoplasia type D,"Antenatal, Neonatal",
646278,CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome,"Childhood, Infancy",Autosomal dominant
100013,Lissencephaly with cerebellar hypoplasia type C,Neonatal,
100008,ACys amyloidosis,"Adolescent, Adult",Autosomal dominant
100003,Intraneural perineurioma,"Adolescent, Adult, Childhood",
100006,"ABeta amyloidosis, Dutch type",Adult,Autosomal dominant
645749,Congenital esophageal stenosis,"Adolescent, Childhood, Infancy, Neonatal",
100002,Extraneural perineurioma,"Adolescent, Adult, Childhood, Elderly, Infancy",
99995,Complex regional pain syndrome type 1,All ages,
99994,Complex regional pain syndrome type 2,All ages,
99989,Intermediate DEND syndrome,"Infancy, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
99981,Apnea of prematurity,"Infancy, Neonatal",Not applicable
99978,Perihilar cholangiocarcinoma,Adult,Not applicable
99977,Squamous cell carcinoma of the esophagus,"Adult, Elderly","Multigenic/multifactorial, Not applicable"
99976,Adenocarcinoma of the oesophagus and oesophagogastric junction,"Adult, Elderly",Not applicable
99971,Well-differentiated liposarcoma,Adult,Not applicable
99969,Pleomorphic liposarcoma,Adult,Not applicable
99970,Dedifferentiated liposarcoma,Adult,Not applicable
99967,Myxoid/round cell liposarcoma,Adult,Not applicable
99965,O'Sullivan-McLeod syndrome,Adult,
99966,Atypical teratoid rhabdoid tumor,"Antenatal, Childhood, Infancy, Neonatal",Not applicable
99961,Benign recurrent intrahepatic cholestasis type 2,,Autosomal recessive
99960,Benign recurrent intrahepatic cholestasis type 1,,Autosomal recessive
643549,Hao-Fountain syndrome,"Infancy, Neonatal",
643503,Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome,Neonatal,
99955,Charcot-Marie-Tooth disease type 4B1,"Infancy, Neonatal",Autosomal recessive
99956,Charcot-Marie-Tooth disease type 4B2,Childhood,Autosomal recessive
99948,Charcot-Marie-Tooth disease type 4A,"Infancy, Neonatal",Autosomal recessive
99947,Autosomal dominant Charcot-Marie-Tooth disease type 2A2,Childhood,Autosomal dominant
99950,Charcot-Marie-Tooth disease type 4D,"Adolescent, Childhood",Autosomal recessive
99949,Charcot-Marie-Tooth disease type 4C,Childhood,Autosomal recessive
99952,Charcot-Marie-Tooth disease type 4F,Childhood,Autosomal recessive
99951,Charcot-Marie-Tooth disease type 4E,"Infancy, Neonatal",Autosomal recessive
99954,Charcot-Marie-Tooth disease type 4H,Infancy,Autosomal recessive
99953,Charcot-Marie-Tooth disease type 4G,"Adolescent, Childhood",Autosomal recessive
648992,Non-syndromic bridging bronchus,"Antenatal, Infancy, Neonatal",
99940,Autosomal dominant Charcot-Marie-Tooth disease type 2F,"Adolescent, Adult, Elderly",Autosomal dominant
99939,Autosomal dominant Charcot-Marie-Tooth disease type 2E,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
649010,Non-syndromic congenital bronchial atresia,Adult,
99942,Autosomal dominant Charcot-Marie-Tooth disease type 2I,Adult,Autosomal dominant
99944,Autosomal dominant Charcot-Marie-Tooth disease type 2K,"Adolescent, Adult, Childhood",Autosomal dominant
649029,Isolated left bronchial isomerism,"Adult, Elderly",
99943,Autosomal dominant Charcot-Marie-Tooth disease type 2J,Adult,Autosomal dominant
99946,Autosomal dominant Charcot-Marie-Tooth disease type 2A1,Childhood,Autosomal dominant
99945,Autosomal dominant Charcot-Marie-Tooth disease type 2L,"Adolescent, Adult",Autosomal dominant
99931,Idiopathic pulmonary hemosiderosis,Childhood,
648684,Central retinal artery occlusion,All ages,
99932,Heiner syndrome,Infancy,
99936,Autosomal dominant Charcot-Marie-Tooth disease type 2B,"Adolescent, Adult",Autosomal dominant
99937,Autosomal dominant Charcot-Marie-Tooth disease type 2C,"Adolescent, Adult, Childhood, Infancy",Autosomal dominant
99938,Autosomal dominant Charcot-Marie-Tooth disease type 2D,"Adolescent, Adult",Autosomal dominant
99925,Invasive mole,Adult,Not applicable
99926,Gestational choriocarcinoma,Adult,Not applicable
99927,Hydatidiform mole,"Adolescent, Adult","Autosomal recessive, Not applicable"
99928,Placental site trophoblastic tumor,Adult,Not applicable
648681,Immune-mediated scleritis,All ages,
99918,Streptococcal toxic-shock syndrome,All ages,Not applicable
99917,"Theca steroid-producing cell malignant tumor of ovary, not further specified",Adult,
99916,Malignant Sertoli-Leydig cell tumor of the ovary,"Adolescent, Adult, Childhood, Elderly",
99915,Malignant granulosa cell tumor of the ovary,"Adolescent, Adult, Elderly",Multigenic/multifactorial
99921,Chronic graft versus host disease,All ages,
99919,Staphylococcal toxic-shock syndrome,All ages,Not applicable
99912,Ovarian dysgerminoma,Adolescent,Unknown
647815,Keratitis fugax hereditaria,,Autosomal dominant
99901,Acyl-CoA dehydrogenase 9 deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
647811,Cardiac-urogenital syndrome,,Autosomal dominant
647804,Combined immunodeficiency due to FCHO1 deficiency,,Autosomal recessive
99905,Streptobacillary rat-bite fever,All ages,
647834,SLC40A1-related hemochromatosis,,Autosomal dominant
99903,Spirillary rat-bite fever,All ages,
647799,MYT1L-related developmental delay-intellectual disability-obesity syndrome,,Autosomal dominant
99898,Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,"Infancy, Neonatal",Autosomal recessive
99879,Familial isolated hyperparathyroidism,Adult,Autosomal dominant
656283,Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency,,Autosomal recessive
656279,1p36.33 duplication syndrome,,Not applicable
99880,Hyperparathyroidism-jaw tumor syndrome,"Adolescent, Adult",Autosomal dominant
656313,Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency,,Autosomal dominant
656300,Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency,,Autosomal recessive
656130,PBX1-related congenital anomalies of kidney-urinary tract syndrome,,Autosomal dominant
656135,Intellectual disability-cupped ears syndrome,,Autosomal dominant
99887,Acute megakaryoblastic leukemia in children with Down syndrome,Childhood,Not applicable
656912,Autosomal dominant combined immunodeficiency due to ERBIN deficiency,,Autosomal dominant
99889,Cushing syndrome due to ectopic ACTH secretion,"Adult, Elderly",Not applicable
656326,Autosomal recessive combined immunodeficiency due to IL6R deficiency,,Autosomal recessive
99885,Isolated permanent neonatal diabetes mellitus,"Antenatal, Infancy, Neonatal","Autosomal dominant, Autosomal recessive"
99886,Transient neonatal diabetes mellitus,"Antenatal, Neonatal","Autosomal dominant, Autosomal recessive, Not applicable"
653712,CHD4-related neurodevelopmental disorder,"Childhood, Infancy",Autosomal dominant
653722,Digenic Alport syndrome,,"Autosomal dominant, Autosomal recessive"
653725,"Autosomal recessive limb-girdle muscular dystrophy, type 28","Adolescent, Adult, Childhood",Autosomal recessive
99865,Spermatocytic seminoma,"Adolescent, Adult",Unknown
653728,"Congenital insensitivity to pain syndrome, Marsili type","Childhood, Infancy, Neonatal",Autosomal dominant
99860,Precursor B-cell acute lymphoblastic leukemia,Childhood,Not applicable
99861,Precursor T-cell acute lymphoblastic leukemia,"Adolescent, Adult",Not applicable
653709,Cone rod dystrophy-short stature syndrome,Childhood,Autosomal recessive
656071,Atrophic papulosis,Adult,
99868,Thymic carcinoma,Adult,Not applicable
653751,X-linked combined immunodeficiency due to SASH3 deficiency,"Adolescent, Adult, Childhood",X-linked recessive
99867,Thymoma,Adult,Not applicable
653767,Jansen-de Vries syndrome,Infancy,Autosomal dominant
653880,Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
99869,Thymic neuroendocrine carcinoma,Adult,Not applicable
99849,Glycogen storage disease due to muscle beta-enolase deficiency,Adult,Autosomal recessive
652514,Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation,,Autosomal dominant
652487,Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome,,Autosomal dominant
99845,Genetic recurrent myoglobinuria,Childhood,"Autosomal dominant, Autosomal recessive, Not applicable"
99846,Autosomal dominant myoglobinuria,No data available,Autosomal dominant
99843,Leukocyte adhesion deficiency type II,"Childhood, Infancy",Autosomal recessive
99844,Leukocyte adhesion deficiency type III,"Childhood, Infancy",Autosomal recessive
99857,Secondary syringomyelia,Adult,
99853,Ovarioleukodystrophy,"Adolescent, Adult, Childhood",Autosomal recessive
652532,Adult-onset progressive leukoencephalopathy-early-onset deafness,Adult,Autosomal recessive
99854,Cree leukoencephalopathy,,Autosomal recessive
652528,Supernumerary kidney,Neonatal,
99852,Ravine syndrome,Infancy,Autosomal recessive
652522,Periodic fever-immunodeficiency-thrombocytopenia syndrome,,Autosomal recessive
99832,Resistance to thyrotropin-releasing hormone syndrome,Infancy,Autosomal recessive
99829,Yellow fever,All ages,
99828,Dengue fever,All ages,Not applicable
99827,Crimean-Congo hemorrhagic fever,All ages,
99842,Leukocyte adhesion deficiency type I,"Childhood, Infancy",Autosomal recessive
99811,Neuronal intestinal pseudoobstruction,All ages,X-linked recessive
660017,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome,"Childhood, Infancy",Autosomal dominant
660012,Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation,,Autosomal dominant
99812,LIG4 syndrome,"Infancy, Neonatal",Autosomal recessive
661526,MBD4-related tumor predisposition syndrome,Adult,Autosomal recessive
661412,Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency,"Infancy, Neonatal",
662172,Phelan-McDermid syndrome due to SHANK3 mutation,,Autosomal dominant
99819,Familial gestational hyperthyroidism,"Adolescent, Adult",Autosomal dominant
662169,Phelan-McDermid syndrome due to 22q13.3 deletion,,Not applicable
662179,Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome,Infancy,Autosomal dominant
662175,Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome,Neonatal,Autosomal dominant
662189,Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome,"Infancy, Neonatal",Autosomal dominant
662184,Congenital muscular dystrophy-cataract-intellectual disability syndrome,"Childhood, Infancy, Neonatal",Autosomal recessive
99824,Lassa fever,All ages,
662198,Neurodevelopmental delay-intellectual disability-skeletal defects syndrome,"Infancy, Neonatal",X-linked dominant
99825,Nipah virus disease,All ages,
99826,Marburg hemorrhagic fever,All ages,
99796,Subcortical band heterotopia,,"Autosomal recessive, Unknown, X-linked recessive"
99798,Oligodontia,Childhood,"Autosomal dominant, Autosomal recessive, X-linked recessive"
659744,Ocular surface squamous neoplasia,"Adolescent, Adult, Childhood, Elderly",
99802,Hemimegalencephaly,Infancy,Not applicable
659873,Wormian bones-micrognathia-abnormal dentition-progeroid syndrome,"Infancy, Neonatal",Autosomal dominant
99803,Haddad syndrome,"Infancy, Neonatal","Autosomal dominant, Multigenic/multifactorial"
99806,Oculootodental syndrome,Infancy,
659904,Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome,,Autosomal dominant
99807,PEHO-like syndrome,"Infancy, Neonatal",Autosomal recessive
99810,Familial porencephaly,"Infancy, Neonatal",Autosomal dominant
659975,Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome,,Autosomal recessive
659396,Cohen-Gibson syndrome,"Antenatal, Neonatal",Autosomal dominant
658951,Early-onset immune dysregulation due to DOCK11 complete deficiency,"Childhood, Infancy",X-linked recessive
659609,Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome,"Antenatal, Neonatal",Autosomal dominant
659463,Imagawa-Matsumoto syndrome,"Antenatal, Neonatal",Autosomal dominant
659672,Harderoporphyria,Neonatal,Autosomal recessive
99789,Dentin dysplasia type I,Childhood,"Autosomal dominant, Autosomal recessive"
659642,Rauch-Steindl syndrome,Antenatal,
659702,Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome,"Antenatal, Neonatal",
99791,Dentin dysplasia type II,,Autosomal dominant
99792,Dentin dysplasia-sclerotic bones syndrome,Infancy,
658584,Rowell syndrome,Adult,
658590,Eyelid sebaceous carcinoma,Elderly,
658778,COQ7-related distal hereditary motor neuropathy,,Autosomal recessive
658595,DNMT3A-related microcephalic dwarfism,"Antenatal, Neonatal",Autosomal dominant
658813,Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency,Infancy,Autosomal recessive
658843,Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome,"Antenatal, Infancy, Neonatal",Autosomal dominant
99772,Cleft velum,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
658805,Greig cephalopolysyndactyly-contiguous gene syndrome,Antenatal,
658810,Atrophoderma of Pasini and Pierini,Adult,
99771,Bifid uvula,"Infancy, Neonatal","Multigenic/multifactorial, Not applicable"
658946,Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency,,X-linked recessive
99776,Mosaic trisomy 9 syndrome,"Infancy, Neonatal",
631073,Autosomal recessive spastic paraplegia type 82,"Childhood, Infancy",Autosomal recessive
631076,Autosomal recessive spastic paraplegia type 83,"Adolescent, Childhood",Autosomal recessive
631079,Autosomal recessive spastic paraplegia type 84,"Childhood, Infancy",Autosomal recessive
631082,Autosomal recessive spastic paraplegia type 85,"Childhood, Infancy",Autosomal recessive
631068,Autosomal dominant spastic paraplegia type 80,"Adolescent, Childhood",Autosomal dominant
631106,Spinocerebellar ataxia type 49,"Adolescent, Adult, Childhood",Autosomal dominant
631103,Spinocerebellar ataxia type 48,Adult,Autosomal dominant
631095,Spinocerebellar ataxia type 44,Adult,Autosomal dominant
631088,Autosomal recessive spastic paraplegia type 87,"Childhood, Infancy",Autosomal recessive
631085,Autosomal recessive spastic paraplegia type 86,"Childhood, Infancy",Autosomal recessive
631248,Mitchell Syndrome,,Autosomal dominant
634475,Mosaic NF2-related schwannomatosis,"Infancy, Neonatal",
634492,Mosaic schwannomatosis,"Infancy, Neonatal",
634461,Mosaic neurofibromatosis type 1,"Infancy, Neonatal",
633228,Isolated proximal femoral focal deficiency,Neonatal,
637064,Isolated optic nerve aplasia,"Infancy, Neonatal",
636970,Autosomal recessive myosin storage myopathy,,Autosomal recessive
636965,Autosomal dominant myosin storage myopathy,,Autosomal dominant
637051,Borna virus encephalitis,"Adolescent, Adult, Elderly",
637013,SMARCA2-related blepharophimosis-intellectual disability syndrome,"Adolescent, Childhood, Infancy",Autosomal dominant
636945,Invasive candidiasis,"Adult, Elderly, Infancy",
636941,Vascular Ehlers-Danlos-polymicrogyria syndrome,"Infancy, Neonatal",
636955,Endemic pemphigus foliaceus,All ages,
636950,Glaucomatocyclitic crisis disease,"Adolescent, Adult",
641829,Neonatal compartment syndrome,Neonatal,
641496,Childhood-onset schizophrenia,"Adolescent, Childhood",
641390,PsAPASH syndrome,Adult,
641380,PAPASH syndrome,"Adolescent, Adult",
641385,PASS syndrome,Adult,
641368,Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency,Infancy,Autosomal recessive
641353,Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome,"Infancy, Neonatal",
641361,Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome,Infancy,Autosomal recessive
641350,Immunotherapy induced hypophysitis,All ages,
642965,Autosomal recessive ataxia due to PEX2 deficiency,"Adolescent, Childhood",Autosomal recessive
642954,Autosomal recessive ataxia due to PEX16 deficiency,,Autosomal recessive
642763,Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation,"Childhood, Infancy",Autosomal dominant
642747,PUM1-related cerebellar ataxia,Adult,Autosomal dominant
642675,CHD8 overgrowth syndrome,No data available,Autosomal dominant
642671,Familial hyperaldosteronism type IV,"Adult, Childhood",
642099,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type","Infancy, Neonatal",
642085,EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity,"Infancy, Neonatal",
632603,Mesomelic dysplasia-digital anomalies-intellectual disability syndrome,"Infancy, Neonatal",
633021,SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome,,Autosomal recessive
633024,SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome,,Autosomal dominant
633004,KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome,"Infancy, Neonatal",Autosomal dominant
633014,SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome,"Adolescent, Childhood, Infancy","Autosomal dominant, Autosomal recessive"
633124,Invasive scopulariopsis infection,"Adolescent, Adult, Childhood, Elderly",
633035,Intellectual disability-early-onset cataract-microcephaly syndrome,Infancy,
633028,CPE-related Prader-Willi-like syndrome,"Childhood, Infancy",
615938,Spastic paraparesis-cataracts-speech delay syndrome,,Autosomal dominant
615970,Chronic intervillositis of unknown etiology,"Adolescent, Adult",
615983,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation,,Autosomal recessive
615954,Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome,"Antenatal, Neonatal",
615964,Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate,"Adult, Childhood",
617408,Classic eosinophilic pustular folliculitis,"Adolescent, Adult",
617440,Painful legs and moving toes syndrome,Adult,
617304,Amniotic fluid embolism,Adult,
617294,Twin anemia-polycythemia sequence,Antenatal,
617301,Selective intrauterine growth restriction,Antenatal,
617297,Twin-reversed arterial perfusion sequence,Antenatal,
621758,Fibrosis-neurodegeneration-cerebral angiomatosis syndrome,"Infancy, Neonatal",
620371,Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation,All ages,
620368,EGF-related primary hypomagnesemia with intellectual disability,"Childhood, Infancy",
620363,Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome,"Childhood, Infancy","Autosomal dominant, Autosomal recessive"
620205,Non-syndromic bicoronal and sagittal craniosynostosis,Neonatal,
620212,Non-syndromic pansynostosis,Neonatal,
620192,Non-syndromic metopic and sagittal craniosynostosis,Neonatal,
620198,Non-syndromic bicoronal and metopic craniosynostosis,Neonatal,
620178,Non-syndromic bilambdoid craniosynostosis,Neonatal,
620186,Non-syndromic unicoronal and sagittal craniosynostosis,Neonatal,
620158,Non-syndromic non-specific multisutural craniosynostosis,Neonatal,
620139,Non-syndromic unifrontosphenoidal craniosynostosis,Neonatal,
620146,Non-syndromic unisquamosal craniosynostosis,Neonatal,
620102,Non-syndromic unicoronal craniosynostosis,Neonatal,
620113,Non-syndromic unilambdoid craniosynostosis,Neonatal,
624268,Non-specific autoimmune cerebellar ataxia without characteristic antibodies,All ages,
624199,Non-specific autoimmune brainstem encephalitis with characteristic antibodies,All ages,
624190,Paraneoplastic isolated brainstem encephalitis,All ages,
624244,Postinfectious cerebellitis,All ages,
624216,Non-specific autoimmune brainstem encephalitis without characteristic antibodies,All ages,
623789,Body integrity dysphoria,"Adolescent, Childhood",
623801,Acute flaccid myelitis,"Adolescent, Adult, Childhood, Infancy",
624166,Non-specific autoimmune supratentorial encephalitis with characteristic antibodies,All ages,
624178,Non-specific autoimmune supratentorial encephalitis without characteristic antibodies,All ages,
623615,Autoimmune limbic encephalitis,All ages,
623626,Paraneoplastic cerebellar degeneration,All ages,
622925,X-linked severe syndromic thoracic aortic aneurysm and dissection,"Adolescent, Childhood, Infancy",
618891,Chronic neurovisceral acid sphingomyelinase deficiency,"Infancy, Neonatal",
617916,Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,"Adult, Elderly",
617919,F12-associated cold autoinflammatory syndrome,Neonatal,Autosomal dominant
619941,Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency,"Infancy, Neonatal",Autosomal recessive
619367,SAMD9L-associated autoinflammatory syndrome,Neonatal,Not applicable
619953,Familial hyperinflammatory lymphoproliferative immunodeficiency,"Childhood, Infancy, Neonatal",Autosomal recessive
619948,Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency,"Adolescent, Childhood, Infancy",Autosomal dominant
619979,Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome,"Infancy, Neonatal",Autosomal dominant
619972,CADINS disease,,Autosomal dominant
619363,NOCARH syndrome,"Infancy, Neonatal",Autosomal dominant
619233,Hereditary persistence of fetal hemoglobin-intellectual disability syndrome,"Infancy, Neonatal",Autosomal dominant
