genetic disease
|__monogenic disease
|__autosomal genetic disease 6831 rec.
|__Aicardi-Goutieres syndrome 7 rec.
|__autosomal dominant disease 3972 rec.
| |__3-methylglutaconic aciduria type 7a
| |__3p deletion syndrome
| |__46,XX sex reversal 2 1 rec.
| |__46,XX sex reversal 4 3 rec.
| |__46,XX sex reversal 5 1 rec.
| |__46,XY sex reversal 3 2 rec.
| |__46,XY sex reversal 6
| |__46,XY sex reversal 9 1 rec.
| |__46,XY sex reversal 10 1 rec.
| |__abdominal obesity-metabolic syndrome(+) 5 rec.
| |__ablepharon macrostomia syndrome 1 rec.
| |__achondrogenesis type II
| |__acrofacial dysostosis Cincinnati type 1 rec.
| |__acrokeratosis verruciformis 1 rec.
| |__acromelic frontonasal dysostosis
| |__Adams-Oliver syndrome 3 2 rec.
| |__adermatoglyphia 1 rec.
| |__ADULT syndrome 1 rec.
| |__adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 1 rec.
| |__adult-onset myofibrillar myopathy 2A 17 rec.
| |__advanced sleep phase syndrome(+) 10 rec.
| |__agammaglobulinemia 5
| |__agammaglobulinemia 8A 1 rec.
| |__agammaglobulinemia 10 1 rec.
| |__age related macular degeneration(+) 14 rec.
| |__Alexander disease 39 rec.
| |__Alzheimer's disease 1 588 rec.
| |__Alzheimer's disease 2 9 rec.
| |__Alzheimer's disease 3 8 rec.
| |__Alzheimer's disease 4 3 rec.
| |__Alzheimer's disease 5
| |__Alzheimer's disease 9 1 rec.
| |__amelogenesis imperfecta type 1A 1 rec.
| |__amelogenesis imperfecta type 1B
| |__amelogenesis imperfecta type 3A
| |__amelogenesis imperfecta type 3B
| |__amelogenesis imperfecta type 4 1 rec.
| |__amyotrophic lateral sclerosis type 1 40 rec.
| |__amyotrophic lateral sclerosis type 24 6 rec.
| |__amyotrophic lateral sclerosis type 25 6 rec.
| |__amyotrophic lateral sclerosis type 26 3 rec.
| |__amyotrophic lateral sclerosis type 28
| |__amyotrophic neuralgia 4 rec.
| |__Andersen-Tawil syndrome 1 rec.
| |__aniridia 1 2 rec.
| |__ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 1 rec.
| |__ankylosing spondylitis 2
| |__ankyrin-B-related cardiac arrhythmia 2 rec.
| |__anterior segment dysgenesis 1 1 rec.
| |__anterior segment dysgenesis 3 1 rec.
| |__anterior segment dysgenesis 4 1 rec.
| |__antithrombin III deficiency 5 rec.
| |__Antley-Bixler syndrome without disordered steroidogenesis 2 rec.
| |__aortic valve disease 1 1 rec.
| |__aortic valve disease 2 1 rec.
| |__aortic valve disease 3
| |__aplasia of lacrimal and salivary glands 1 rec.
| |__apolipoprotein C-III deficiency
| |__APP-related cerebral amyloid angiopathy 2 rec.
| |__arrhythmogenic right ventricular dysplasia 1 3 rec.
| |__arrhythmogenic right ventricular dysplasia 3
| |__arrhythmogenic right ventricular dysplasia 4
| |__arrhythmogenic right ventricular dysplasia 5 7 rec.
| |__arrhythmogenic right ventricular dysplasia 8 1 rec.
| |__arrhythmogenic right ventricular dysplasia 9 1 rec.
| |__arrhythmogenic right ventricular dysplasia 10
| |__arrhythmogenic right ventricular dysplasia 12 1 rec.
| |__arrhythmogenic right ventricular dysplasia 13 1 rec.
| |__arrhythmogenic right ventricular dysplasia 14 1 rec.
| |__atrial heart septal defect 2 2 rec.
| |__atrial heart septal defect 5 6 rec.
| |__atrial heart septal defect 6 2 rec.
| |__atrial heart septal defect 7 2 rec.
| |__atrial heart septal defect 8
| |__atrial heart septal defect 9 3 rec.
| |__atrial standstill 1
| |__atypical autosomal dominant adult-onset demyelinating leukodystrophy
| |__autoimmune interstitial lung, joint, and kidney disease 1 rec.
| |__autoimmune lymphoproliferative syndrome type 2A 1 rec.
| |__autoimmune lymphoproliferative syndrome type 4 1 rec.
| |__autoinflammation, antibody deficiency, and immune dysregulation syndrome 1 rec.
| |__autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia
| |__autosomal dominant Aarskog syndrome
| |__autosomal dominant Alport syndrome 1 rec.
| |__autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome
| |__autosomal dominant beta thalassemia 1 rec.
| |__autosomal dominant centronuclear myopathy(+) 3 rec.
| |__autosomal dominant cerebellar ataxia(+) 895 rec.
| |__autosomal dominant chondrodysplasia punctata
| |__autosomal dominant congenital deafness with onychodystrophy 1 rec.
| |__autosomal dominant craniodiaphyseal dysplasia
| |__autosomal dominant craniometaphyseal dysplasia
| |__autosomal dominant cutis laxa(+) 1 rec.
| |__autosomal dominant distal hereditary motor neuronopathy(+) 38 rec.
| |__autosomal dominant dyskeratosis congenita 1
| |__autosomal dominant dyskeratosis congenita 2
| |__autosomal dominant dyskeratosis congenita 3
| |__autosomal dominant dyskeratosis congenita 4
| |__autosomal dominant dyskeratosis congenita 6
| |__autosomal dominant Emery-Dreifuss muscular dystrophy 2 7 rec.
| |__autosomal dominant Emery-Dreifuss muscular dystrophy 4 1 rec.
| |__autosomal dominant Emery-Dreifuss muscular dystrophy 5 1 rec.
| |__autosomal dominant Emery-Dreifuss muscular dystrophy 7 1 rec.
| |__autosomal dominant familial visceral neuropathy
| |__autosomal dominant hyaline body myopathy 11 rec.
| |__autosomal dominant hypocalcemia(+) 1 rec.
| |__autosomal dominant hypophosphatemic rickets 1 rec.
| |__autosomal dominant intellectual developmental disorder(+) 241 rec.
| |__autosomal dominant isolated ectopia lentis 1 2 rec.
| |__autosomal dominant isolated macrothrombocytopenia 1 3 rec.
| |__autosomal dominant isolated macrothrombocytopenia 2 4 rec.
| |__autosomal dominant keratitis 2 rec.
| |__autosomal dominant keratitis-ichthyosis-deafness syndrome
| |__autosomal dominant limb-girdle muscular dystrophy(+) 15 rec.
| |__autosomal dominant microcephaly
| |__autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 1 rec.
| |__autosomal dominant nocturnal frontal lobe epilepsy(+) 12 rec.
| |__autosomal dominant nonsyndromic deafness(+) 80 rec.
| |__autosomal dominant osteopetrosis 1 2 rec.
| |__autosomal dominant osteopetrosis 2 1 rec.
| |__autosomal dominant polycystic kidney disease(+) 12 rec.
| |__autosomal dominant primary microcephaly(+) 12 rec.
| |__autosomal dominant progressive external ophthalmoplegia 1 2 rec.
| |__autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 2 rec.
| |__autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 8 rec.
| |__autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 6 rec.
| |__autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 3 rec.
| |__autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 1 rec.
| |__autosomal dominant pseudohypoaldosteronism type 1 1 rec.
| |__autosomal dominant Robinow syndrome 1 1 rec.
| |__autosomal dominant Robinow syndrome 2 6 rec.
| |__autosomal dominant Robinow syndrome 3 1 rec.
| |__autosomal dominant sensory ataxia 1
| |__autosomal dominant severe congenital neutropenia(+) 3 rec.
| |__autosomal dominant sideroblastic anemia 4 1 rec.
| |__autosomal dominant spondyloepiphyseal dysplasia tarda
| |__autosomal dominant thrombophilia due to protein S deficiency
| |__autosomal dominant tubulointerstitial kidney disease(+) 3 rec.
| |__autosomal dominant vitreoretinochoroidopathy 4 rec.
| |__autosomal dominant Wolfram syndrome 1 rec.
| |__autosomal dominant woolly hair
| |__Axenfeld-Rieger syndrome(+) 2 rec.
| |__Ayme-Gripp syndrome 1 rec.
| |__Bainbridge-Ropers syndrome 1 rec.
| |__Baraitser-Winter syndrome 1 7 rec.
| |__Baraitser-Winter syndrome 2 2 rec.
| |__Bart-Pumphrey syndrome
| |__Beare-Stevenson cutis gyrata syndrome 2 rec.
| |__benign familial hematuria 2 rec.
| |__benign familial infantile seizures 1
| |__benign familial infantile seizures 2
| |__benign familial infantile seizures 3 2 rec.
| |__benign familial infantile seizures 5 1 rec.
| |__bent bone dysplasia syndrome 1 2 rec.
| |__Beukes hip dysplasia 1 rec.
| |__bilateral optic nerve hypoplasia 2 rec.
| |__Birk-Barel syndrome 1 rec.
| |__Birt-Hogg-Dube syndrome 5 rec.
| |__Blau syndrome
| |__blepharocheilodontic syndrome(+) 2 rec.
| |__blepharophimosis-impaired intellectual development syndrome 1 rec.
| |__blue color blindness
| |__Bosch-Boonstra-Schaaf optic atrophy syndrome 1 rec.
| |__Bothnian type palmoplantar keratoderma 6 rec.
| |__brachycephaly, trichomegaly, and developmental delay 3 rec.
| |__brachydactyly type A1(+) 2 rec.
| |__brachydactyly type A2 2 rec.
| |__brachydactyly type C
| |__brachydactyly type D
| |__brachydactyly-syndactyly syndrome
| |__brain small vessel disease 1 2 rec.
| |__brain small vessel disease 2 1 rec.
| |__branchiooculofacial syndrome 1 rec.
| |__branchiootorenal syndrome(+) 7 rec.
| |__bronchiectasis 1 11 rec.
| |__bronchiectasis 2 3 rec.
| |__bronchiectasis 3 8 rec.
| |__Brooke-Spiegler syndrome 1 rec.
| |__Brugada syndrome 1 2 rec.
| |__Brugada syndrome 7
| |__Brugada syndrome 9 1 rec.
| |__bullous congenital ichthyosiform erythroderma
| |__Buschke-Ollendorff syndrome 1 rec.
| |__C syndrome
| |__CADASIL 1 1 rec.
| |__CADASIL 2 1 rec.
| |__campomelic dysplasia 1 rec.
| |__cardiofaciocutaneous syndrome 1 1 rec.
| |__cardiofaciocutaneous syndrome 2 1 rec.
| |__cardiofaciocutaneous syndrome 3 2 rec.
| |__cardiofaciocutaneous syndrome 4 2 rec.
| |__Carney complex 2 rec.
| |__Carney-Stratakis syndrome 5 rec.
| |__carpal tunnel syndrome 1 1 rec.
| |__carpal tunnel syndrome 2 1 rec.
| |__CASGID syndrome 1 rec.
| |__cataract 1 multiple types
| |__cataract 2 multiple types
| |__cataract 3 multiple types
| |__cataract 4 multiple types
| |__cataract 5 multiple types 1 rec.
| |__cataract 6 multiple types 1 rec.
| |__cataract 7
| |__cataract 8 multiple types
| |__cataract 9 multiple types 11 rec.
| |__cataract 10 multiple types
| |__cataract 11 multiple types 1 rec.
| |__cataract 12 multiple types
| |__cataract 14 multiple types
| |__cataract 15 multiple types 1 rec.
| |__cataract 16 multiple types 2 rec.
| |__cataract 17 multiple types
| |__cataract 20 multiple types
| |__cataract 21 multiple types 1 rec.
| |__cataract 22 multiple types
| |__cataract 24
| |__cataract 29
| |__cataract 30
| |__cataract 31 multiple types 1 rec.
| |__cataract 32 multiple types
| |__cataract 33
| |__cataract 37
| |__cataract 39 multiple types
| |__cataract 41 1 rec.
| |__cataract 42
| |__cataract 43 1 rec.
| |__cataract 47 8 rec.
| |__central conducting lymphatic anomaly 1 rec.
| |__central precocious puberty 1 1 rec.
| |__central precocious puberty 2 3 rec.
| |__cerebrocostomandibular syndrome 1 rec.
| |__Charcot-Marie-Tooth disease axonal type 2C 3 rec.
| |__Charcot-Marie-Tooth disease axonal type 2CC
| |__Charcot-Marie-Tooth disease axonal type 2F 1 rec.
| |__Charcot-Marie-Tooth disease axonal type 2JJ 1 rec.
| |__Charcot-Marie-Tooth disease axonal type 2K 3 rec.
| |__Charcot-Marie-Tooth disease axonal type 2L 8 rec.
| |__Charcot-Marie-Tooth disease axonal type 2N 2 rec.
| |__Charcot-Marie-Tooth disease axonal type 2O 2 rec.
| |__Charcot-Marie-Tooth disease axonal type 2P
| |__Charcot-Marie-Tooth disease axonal type 2Q 2 rec.
| |__Charcot-Marie-Tooth disease axonal type 2T 15 rec.
| |__Charcot-Marie-Tooth disease axonal type 2U 1 rec.
| |__Charcot-Marie-Tooth disease axonal type 2V 1 rec.
| |__Charcot-Marie-Tooth disease axonal type 2Z
| |__Charcot-Marie-Tooth disease dominant intermediate A 1 rec.
| |__Charcot-Marie-Tooth disease dominant intermediate B 2 rec.
| |__Charcot-Marie-Tooth disease dominant intermediate C 26 rec.
| |__Charcot-Marie-Tooth disease dominant intermediate D
| |__Charcot-Marie-Tooth disease dominant intermediate E 13 rec.
| |__Charcot-Marie-Tooth disease dominant intermediate F 2 rec.
| |__Charcot-Marie-Tooth disease dominant intermediate G
| |__Charcot-Marie-Tooth disease type 1A
| |__Charcot-Marie-Tooth disease type 1B
| |__Charcot-Marie-Tooth disease type 1C 10 rec.
| |__Charcot-Marie-Tooth disease type 1D 1 rec.
| |__Charcot-Marie-Tooth disease type 1E
| |__Charcot-Marie-Tooth disease type 1F
| |__Charcot-Marie-Tooth disease type 1G 1 rec.
| |__Charcot-Marie-Tooth disease type 2A1 1 rec.
| |__Charcot-Marie-Tooth disease type 2A2A 6 rec.
| |__Charcot-Marie-Tooth disease type 2B 2 rec.
| |__Charcot-Marie-Tooth disease type 2D 20 rec.
| |__Charcot-Marie-Tooth disease type 2DD 9 rec.
| |__Charcot-Marie-Tooth disease type 2E
| |__Charcot-Marie-Tooth disease type 2I
| |__Charcot-Marie-Tooth disease type 2J
| |__Charcot-Marie-Tooth disease type 2Y 1 rec.
| |__Charcot-Marie-Tooth disease type 3 1 rec.
| |__Charcot-Marie-Tooth disease type 4E 1 rec.
| |__Charcot-Marie-Tooth disease type 5
| |__Charcot-Marie-Tooth disease, axonal type 2W 1 rec.
| |__cherubism 1
| |__childhood-onset neurodegeneration with brain atrophy 4 rec.
| |__chromosome 1p36.33 duplication syndrome
| |__chromosome 5q12 deletion syndrome
| |__chromosome 13q14 deletion syndrome
| |__chromosome 15q11.2 deletion syndrome 12 rec.
| |__chromosome 15q24 deletion syndrome 1 rec.
| |__chromosome 15q25 deletion syndrome
| |__chromosome 17p13.1 deletion syndrome
| |__chromosome 17q11.2 deletion syndrome
| |__chromosome 17q12 deletion syndrome 6 rec.
| |__chromosome 18p deletion syndrome
| |__chromosome 18q deletion syndrome
| |__chromosome 19p13.13 deletion syndrome
| |__chromosome 19q13.11 deletion syndrome
| |__CINCA Syndrome
| |__cleft palate, cardiac defects, and intellectual disability 1 rec.
| |__cleidocranial dysplasia 3 rec.
| |__Clouston syndrome
| |__combined or isolated pituitary hormone deficiency 1 1 rec.
| |__combined or isolated pituitary hormone deficiency 8 3 rec.
| |__combined pituitary hormone deficiency 4 1 rec.
| |__combined pituitary hormone deficiency 6 1 rec.
| |__common variable immunodeficiency 2
| |__common variable immunodeficiency 10 1 rec.
| |__common variable immunodeficiency 13 1 rec.
| |__common variable immunodeficiency 14 1 rec.
| |__complex cortical dysplasia with other brain malformations 1 5 rec.
| |__complex cortical dysplasia with other brain malformations 2 1 rec.
| |__complex cortical dysplasia with other brain malformations 3 1 rec.
| |__complex cortical dysplasia with other brain malformations 4 2 rec.
| |__complex cortical dysplasia with other brain malformations 5 2 rec.
| |__complex cortical dysplasia with other brain malformations 6 3 rec.
| |__complex cortical dysplasia with other brain malformations 7 2 rec.
| |__complex cortical dysplasia with other brain malformations 13 2 rec.
| |__cone-rod dystrophy 24 1 rec.
| |__congenital adrenal insufficiency 11 rec.
| |__congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 rec.
| |__congenital central hypoventilation syndrome 2 rec.
| |__congenital contractural arachnodactyly 2 rec.
| |__congenital diarrhea 6 1 rec.
| |__congenital disorder of glycosylation type IIw 1 rec.
| |__congenital dyserythropoietic anemia type IIIa 1 rec.
| |__congenital dyserythropoietic anemia type IVa 2 rec.
| |__congenital fibrosis of the extraocular muscles 1 1 rec.
| |__congenital fibrosis of the extraocular muscles 3A 5 rec.
| |__congenital fibrosis of the extraocular muscles 3C
| |__congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 rec.
| |__congenital limbs-face contractures-hypotonia-developmental delay syndrome 1 rec.
| |__congenital megabladder 1 rec.
| |__congenital muscular dystrophy due to LMNA mutation 24 rec.
| |__congenital myasthenic syndrome 1A 7 rec.
| |__congenital myasthenic syndrome 1B 7 rec.
| |__congenital myasthenic syndrome 2A
| |__congenital myasthenic syndrome 3A 1 rec.
| |__congenital myasthenic syndrome 4A
| |__congenital myasthenic syndrome 7 5 rec.
| |__congenital myasthenic syndrome 18 2 rec.
| |__congenital myopathy 1A 1 rec.
| |__congenital myopathy 2C 7 rec.
| |__congenital myopathy 4A(+) 4 rec.
| |__congenital myopathy 6 5 rec.
| |__congenital myopathy 8 1 rec.
| |__congenital myopathy 15
| |__congenital myopathy 16
| |__congenital myopathy 18 1 rec.
| |__congenital nongoitrous hypothyroidism 2 1 rec.
| |__congenital nongoitrous hypothyroidism 3
| |__congenital nongoitrous hypothyroidism 5 2 rec.
| |__congenital nongoitrous hypothyroidism 6
| |__congenital nongoitrous hypothyroidism 8 1 rec.
| |__congenital nystagmus 2
| |__congenital nystagmus 3
| |__congenital nystagmus 7
| |__congenital stationary night blindness autosomal dominant 1
| |__congenital stationary night blindness autosomal dominant 2 1 rec.
| |__congenital stationary night blindness autosomal dominant 3 1 rec.
| |__congenital symmetric circumferential skin creases 1 3 rec.
| |__congenital symmetric circumferential skin creases 2 5 rec.
| |__congenital variant of Rett syndrome 5 rec.
| |__congenital vertical talus 1 rec.
| |__contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 1 rec.
| |__Cornelia de Lange syndrome 1 2 rec.
| |__Cornelia de Lange syndrome 3 3 rec.
| |__Cornelia de Lange syndrome 4 3 rec.
| |__Cornelia de Lange syndrome 6 2 rec.
| |__cortisone reductase deficiency 2 1 rec.
| |__Costello syndrome 4 rec.
| |__Cowden syndrome 1 2 rec.
| |__Cowden syndrome 5 1 rec.
| |__Cowden syndrome 6 1 rec.
| |__Cowden syndrome 7 1 rec.
| |__craniofacial-deafness-hand syndrome 5 rec.
| |__craniosynostosis 1 1 rec.
| |__craniosynostosis 2 2 rec.
| |__craniosynostosis 3 1 rec.
| |__craniosynostosis 4
| |__craniosynostosis 6 1 rec.
| |__Crouzon syndrome-acanthosis nigricans syndrome 1 rec.
| |__CST3-related cerebral amyloid angiopathy 3 rec.
| |__Culler-Jones syndrome 1 rec.
| |__Currarino syndrome 3 rec.
| |__D-2-hydroxyglutaric aciduria 2 2 rec.
| |__dehydrated hereditary stomatocytosis 1 2 rec.
| |__dehydrated hereditary stomatocytosis 2 1 rec.
| |__delta beta-thalassemia
| |__dentinogenesis imperfecta
| |__Denys-Drash syndrome 1 rec.
| |__dermatopathia pigmentosa reticularis
| |__DeSanto-Shinawi syndrome 3 rec.
| |__developmental and epileptic encephalopathy 4 11 rec.
| |__developmental and epileptic encephalopathy 5 1 rec.
| |__developmental and epileptic encephalopathy 6B 1 rec.
| |__developmental and epileptic encephalopathy 7 6 rec.
| |__developmental and epileptic encephalopathy 11 2 rec.
| |__developmental and epileptic encephalopathy 13 2 rec.
| |__developmental and epileptic encephalopathy 14 6 rec.
| |__developmental and epileptic encephalopathy 17 4 rec.
| |__developmental and epileptic encephalopathy 19 2 rec.
| |__developmental and epileptic encephalopathy 24 1 rec.
| |__developmental and epileptic encephalopathy 26 1 rec.
| |__developmental and epileptic encephalopathy 27 6 rec.
| |__developmental and epileptic encephalopathy 30 1 rec.
| |__developmental and epileptic encephalopathy 31A 1 rec.
| |__developmental and epileptic encephalopathy 32 1 rec.
| |__developmental and epileptic encephalopathy 33 2 rec.
| |__developmental and epileptic encephalopathy 41 2 rec.
| |__developmental and epileptic encephalopathy 42 1 rec.
| |__developmental and epileptic encephalopathy 43 2 rec.
| |__developmental and epileptic encephalopathy 45 2 rec.
| |__developmental and epileptic encephalopathy 46 6 rec.
| |__developmental and epileptic encephalopathy 47 3 rec.
| |__developmental and epileptic encephalopathy 54 1 rec.
| |__developmental and epileptic encephalopathy 56 1 rec.
| |__developmental and epileptic encephalopathy 57 2 rec.
| |__developmental and epileptic encephalopathy 58
| |__developmental and epileptic encephalopathy 59 2 rec.
| |__developmental and epileptic encephalopathy 62 1 rec.
| |__developmental and epileptic encephalopathy 64 11 rec.
| |__developmental and epileptic encephalopathy 65 1 rec.
| |__developmental and epileptic encephalopathy 66 1 rec.
| |__developmental and epileptic encephalopathy 67 1 rec.
| |__developmental and epileptic encephalopathy 69 1 rec.
| |__developmental and epileptic encephalopathy 70 1 rec.
| |__developmental and epileptic encephalopathy 72 1 rec.
| |__developmental and epileptic encephalopathy 73 1 rec.
| |__developmental and epileptic encephalopathy 74 2 rec.
| |__developmental and epileptic encephalopathy 78 1 rec.
| |__developmental and epileptic encephalopathy 79 2 rec.
| |__developmental and epileptic encephalopathy 87 9 rec.
| |__developmental and epileptic encephalopathy 91 2 rec.
| |__developmental and epileptic encephalopathy 92 1 rec.
| |__developmental and epileptic encephalopathy 93 3 rec.
| |__developmental and epileptic encephalopathy 96 7 rec.
| |__developmental and epileptic encephalopathy 97 2 rec.
| |__developmental and epileptic encephalopathy 98 2 rec.
| |__developmental and epileptic encephalopathy 99 2 rec.
| |__developmental and epileptic encephalopathy 100 2 rec.
| |__developmental and epileptic encephalopathy 103 2 rec.
| |__developmental and epileptic encephalopathy 104 4 rec.
| |__developmental and epileptic encephalopathy 108 1 rec.
| |__developmental and epileptic encephalopathy 109 8 rec.
| |__developmental and epileptic encephalopathy 116 2 rec.
| |__developmental and epileptic encephalopathy 118 2 rec.
| |__developmental dysplasia of the hip 1
| |__developmental dysplasia of the hip 2
| |__Diamond-Blackfan anemia 1 2 rec.
| |__Diamond-Blackfan anemia 2
| |__Diamond-blackfan anemia 3 1 rec.
| |__Diamond-Blackfan anemia 4 1 rec.
| |__Diamond-Blackfan anemia 5 1 rec.
| |__Diamond-Blackfan anemia 6 1 rec.
| |__Diamond-Blackfan anemia 7 1 rec.
| |__Diamond-Blackfan anemia 8 1 rec.
| |__Diamond-Blackfan anemia 9 2 rec.
| |__Diamond-Blackfan anemia 10 1 rec.
| |__Diamond-Blackfan anemia 11 1 rec.
| |__Diamond-Blackfan anemia 12 1 rec.
| |__Diamond-Blackfan anemia 13 1 rec.
| |__Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 3 rec.
| |__Diamond-Blackfan anemia 16 1 rec.
| |__Diamond-Blackfan anemia 17 1 rec.
| |__Diamond-Blackfan anemia 18 1 rec.
| |__Diamond-Blackfan anemia 19 1 rec.
| |__Diamond-Blackfan anemia 20 2 rec.
| |__diaphyseal medullary stenosis with malignant fibrous histiocytoma 2 rec.
| |__DICER1 syndrome 2 rec.
| |__diffuse cystic renal dysplasia 2 rec.
| |__DiGeorge syndrome 8 rec.
| |__dilated cardiomyopathy 1A 14 rec.
| |__dilated cardiomyopathy 1AA 1 rec.
| |__dilated cardiomyopathy 1B
| |__dilated cardiomyopathy 1C 1 rec.
| |__dilated cardiomyopathy 1CC
| |__dilated cardiomyopathy 1D 3 rec.
| |__dilated cardiomyopathy 1DD 1 rec.
| |__dilated cardiomyopathy 1E 2 rec.
| |__dilated cardiomyopathy 1HH 1 rec.
| |__dilated cardiomyopathy 1II 2 rec.
| |__dilated cardiomyopathy 1JJ 1 rec.
| |__dilated cardiomyopathy 1KK
| |__dilated cardiomyopathy 1LL 1 rec.
| |__dilated cardiomyopathy 1MM 2 rec.
| |__dilated cardiomyopathy 1NN 3 rec.
| |__dilated cardiomyopathy 1R 6 rec.
| |__dilated cardiomyopathy 1S 5 rec.
| |__dilated cardiomyopathy 1U 3 rec.
| |__dilated cardiomyopathy 1V 3 rec.
| |__dilated cardiomyopathy 1Y 3 rec.
| |__dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 2 rec.
| |__distal arthrogryposis type 1A 4 rec.
| |__distal arthrogryposis type 1B
| |__distal arthrogryposis type 2A 9 rec.
| |__distal arthrogryposis type 2B1 1 rec.
| |__distal arthrogryposis type 2B2 1 rec.
| |__distal arthrogryposis type 2B3 3 rec.
| |__distal arthrogryposis type 3 1 rec.
| |__distal arthrogryposis type 5 1 rec.
| |__distal arthrogryposis type 7 1 rec.
| |__distal arthrogryposis type 10
| |__distal myopathy 1 2 rec.
| |__distal myopathy 3 4 rec.
| |__distal myopathy Tateyama type
| |__distal myopathy with rimmed vacuoles 1 rec.
| |__dominant optic atrophy plus syndrome 5 rec.
| |__dominant pericentral pigmentary retinopathy
| |__dopa-responsive dystonia 1 rec.
| |__Doyne honeycomb retinal dystrophy
| |__Dravet syndrome 6 rec.
| |__Duane retraction syndrome 1
| |__Duane retraction syndrome 2 1 rec.
| |__Duane retraction syndrome 3 1 rec.
| |__Duane-radial ray syndrome 1 rec.
| |__dysplastic nevus syndrome
| |__dystonia 9 5 rec.
| |__dystonia 12 2 rec.
| |__dystonia 21
| |__dystonia 23
| |__dystonia 24 1 rec.
| |__dystonia 25 2 rec.
| |__dystonia 28, childhood-onset 1 rec.
| |__dystonia 30 1 rec.
| |__dystonia 33 1 rec.
| |__dystransthyretinemic hyperthyroxinemia 1 rec.
| |__early-onset dystonia and/or spastic paraplegia 4 rec.
| |__early-onset epilepsy 2 1 rec.
| |__early-onset epilepsy 3 7 rec.
| |__ectodermal dysplasia 10A
| |__ectodermal dysplasia 11A
| |__ectodermal dysplasia 12
| |__ectodermal dysplasia and immunodeficiency 2 1 rec.
| |__EEC syndrome(+) 1 rec.
| |__Ehlers-Danlos syndrome arthrochalasia type 1
| |__Ehlers-Danlos syndrome arthrochalasia type 2
| |__Ehlers-Danlos syndrome classic type 1 1 rec.
| |__Ehlers-Danlos syndrome classic type 2 1 rec.
| |__Ehlers-Danlos syndrome periodontal type 1 2 rec.
| |__Ehlers-Danlos syndrome periodontal type 2 1 rec.
| |__epidermolysis bullosa simplex Dowling-Meara type 8 rec.
| |__epidermolysis bullosa simplex generalized type 1 rec.
| |__epidermolysis bullosa simplex localized type 1 rec.
| |__epidermolysis bullosa simplex Ogna type 1 rec.
| |__epidermolysis bullosa simplex with mottled pigmentation
| |__epidermolysis bullosa with congenital localized absence of skin and deformity of nails
| |__epidermolytic hyperkeratosis 1
| |__epidermolytic palmoplantar keratoderma 1
| |__epidermolytic palmoplantar keratoderma 2
| |__episodic ataxia type 9 1 rec.
| |__episodic kinesigenic dyskinesia 1
| |__episodic kinesigenic dyskinesia 2
| |__episodic kinesigenic dyskinesia 3
| |__epithelial basement membrane dystrophy 3 rec.
| |__epithelial recurrent erosion dystrophy
| |__erythrokeratodermia variabilis et progressiva 1 2 rec.
| |__erythrokeratodermia variabilis et progressiva 2
| |__erythrokeratodermia variabilis et progressiva 3
| |__erythrokeratodermia variabilis et progressiva 6 1 rec.
| |__essential tremor 1 1 rec.
| |__essential tremor 2
| |__essential tremor 4 3 rec.
| |__essential tremor 5 1 rec.
| |__essential tremor 6
| |__exudative vitreoretinopathy 1 1 rec.
| |__exudative vitreoretinopathy 3
| |__exudative vitreoretinopathy 5 7 rec.
| |__exudative vitreoretinopathy 6 2 rec.
| |__exudative vitreoretinopathy 7 1 rec.
| |__familial adenomatous polyposis 1 20 rec.
| |__familial adult myoclonic epilepsy 1 1 rec.
| |__familial adult myoclonic epilepsy 2 1 rec.
| |__familial adult myoclonic epilepsy 3 1 rec.
| |__familial adult myoclonic epilepsy 4 4 rec.
| |__familial adult myoclonic epilepsy 6 1 rec.
| |__familial adult myoclonic epilepsy 7 1 rec.
| |__familial apolipoprotein A5 deficiency
| |__familial Behcet-like autoinflammatory syndrome 1 rec.
| |__familial cold autoinflammatory syndrome 1
| |__familial cold autoinflammatory syndrome 2
| |__familial cold autoinflammatory syndrome 3 1 rec.
| |__familial cold autoinflammatory syndrome 4
| |__familial encephalopathy with neuroserpin inclusion bodies 19 rec.
| |__familial episodic pain syndrome 1 3 rec.
| |__familial episodic pain syndrome 2 2 rec.
| |__familial episodic pain syndrome 3 2 rec.
| |__familial erythrocytosis 1 2 rec.
| |__familial erythrocytosis 3 1 rec.
| |__familial erythrocytosis 5
| |__familial expansile osteolysis
| |__familial focal epilepsy with variable foci(+) 11 rec.
| |__familial gestational hyperthyroidism 1 rec.
| |__familial hyperinsulinemic hypoglycemia 1 11 rec.
| |__familial hyperinsulinemic hypoglycemia 2 2 rec.
| |__familial hyperinsulinemic hypoglycemia 3 4 rec.
| |__familial hyperinsulinemic hypoglycemia 5 3 rec.
| |__familial hyperinsulinemic hypoglycemia 6 2 rec.
| |__familial hyperinsulinemic hypoglycemia 7 2 rec.
| |__familial hypocalciuric hypercalcemia(+) 2 rec.
| |__familial isolated hypoparathyroidism 1
| |__familial isolated hypoparathyroidism 2 2 rec.
| |__familial male-limited precocious puberty 1 rec.
| |__familial medullary thyroid carcinoma 5 rec.
| |__familial multiple lipomatosis
| |__familial partial lipodystrophy type 2 4 rec.
| |__familial partial lipodystrophy type 3 1 rec.
| |__familial partial lipodystrophy type 4 1 rec.
| |__familial progressive hyperpigmentation with or without hypopigmentation
| |__familial renal glucosuria 4 rec.
| |__familial temporal lobe epilepsy 1
| |__familial temporal lobe epilepsy 2
| |__familial temporal lobe epilepsy 3
| |__familial temporal lobe epilepsy 4
| |__familial temporal lobe epilepsy 5 9 rec.
| |__familial temporal lobe epilepsy 6
| |__familial temporal lobe epilepsy 7
| |__familial temporal lobe epilepsy 8
| |__familial visceral amyloidosis 4 rec.
| |__Fanconi anemia complementation group R 1 rec.
| |__Fanconi renotubular syndrome 1
| |__Fanconi renotubular syndrome 3 1 rec.
| |__Fanconi renotubular syndrome 4 2 rec.
| |__Feingold syndrome 1 rec.
| |__fibrochondrogenesis 2
| |__fibrodysplasia ossificans progressiva 10 rec.
| |__Finnish type amyloidosis 2 rec.
| |__Floating-Harbor syndrome 1 rec.
| |__focal nonepidermolytic palmoplantar keratoderma 1
| |__focal nonepidermolytic palmoplantar keratoderma 2 1 rec.
| |__focal or diffuse nonepidermolytic palmoplantar keratoderma
| |__focal segmental glomerulosclerosis 1 8 rec.
| |__focal segmental glomerulosclerosis 2 3 rec.
| |__focal segmental glomerulosclerosis 5 6 rec.
| |__focal segmental glomerulosclerosis 7 2 rec.
| |__focal segmental glomerulosclerosis 8 2 rec.
| |__foveal hypoplasia 1 2 rec.
| |__Frasier syndrome 1 rec.
| |__frontometaphyseal dysplasia 2 3 rec.
| |__geleophysic dysplasia 2 2 rec.
| |__geleophysic dysplasia 3 2 rec.
| |__giant axonal neuropathy 2 1 rec.
| |__gingival fibromatosis 5 1 rec.
| |__glomangioma(+) 1 rec.
| |__glucose transporter type 1 deficiency syndrome 2 5 rec.
| |__gnathodiaphyseal dysplasia 2 rec.
| |__granular corneal dystrophy(+) 3 rec.
| |__Greig cephalopolysyndactyly syndrome 1 rec.
| |__GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
| |__growth hormone insensitivity syndrome with immune dysregulation 2 1 rec.
| |__Guttmacher syndrome
| |__Hailey-Hailey disease 1 rec.
| |__Hajdu-Cheney syndrome 1 rec.
| |__hand-foot-genital syndrome
| |__Harel-Yoon syndrome 11 rec.
| |__hawkinsinuria 1 rec.
| |__Heinz body anemia 1 rec.
| |__heparin cofactor II deficiency 21 rec.
| |__hereditary angioedema(+) 2 rec.
| |__hereditary breast ovarian cancer syndrome
| |__hereditary congenital ptosis 1
| |__hereditary diffuse gastric cancer 4 rec.
| |__hereditary hemorrhagic telangiectasia 1 rec.
| |__hereditary lymphedema IA 1 rec.
| |__hereditary lymphedema IB
| |__hereditary lymphedema IC
| |__hereditary lymphedema ID 2 rec.
| |__hereditary lymphedema II
| |__hereditary mixed polyposis syndrome 2 1 rec.
| |__hereditary multiple exostoses 2 rec.
| |__hereditary neuropathy with liability to pressure palsies
| |__hereditary neutrophilia
| |__hereditary sensory and autonomic neuropathy type 1A 5 rec.
| |__hereditary sensory and autonomic neuropathy type 1C 2 rec.
| |__hereditary sensory and autonomic neuropathy type 7 2 rec.
| |__hereditary sensory neuropathy type 1B
| |__hereditary sensory neuropathy type 1D 1 rec.
| |__hereditary sensory neuropathy type 1E
| |__hereditary sensory neuropathy type 1F 1 rec.
| |__hereditary spastic paraplegia 3A 25 rec.
| |__hereditary spastic paraplegia 4 13 rec.
| |__hereditary spastic paraplegia 6 1 rec.
| |__hereditary spastic paraplegia 8 1 rec.
| |__hereditary spastic paraplegia 9A 1 rec.
| |__hereditary spastic paraplegia 10 2 rec.
| |__hereditary spastic paraplegia 12 7 rec.
| |__hereditary spastic paraplegia 13 4 rec.
| |__hereditary spastic paraplegia 17 2 rec.
| |__hereditary spastic paraplegia 18A
| |__hereditary spastic paraplegia 19
| |__hereditary spastic paraplegia 29
| |__hereditary spastic paraplegia 30A 1 rec.
| |__hereditary spastic paraplegia 31 3 rec.
| |__hereditary spastic paraplegia 33
| |__hereditary spastic paraplegia 36
| |__hereditary spastic paraplegia 37
| |__hereditary spastic paraplegia 38
| |__hereditary spastic paraplegia 41
| |__hereditary spastic paraplegia 42 1 rec.
| |__hereditary spastic paraplegia 72A 1 rec.
| |__hereditary spastic paraplegia 73 1 rec.
| |__hereditary spastic paraplegia 79A 1 rec.
| |__hereditary spastic paraplegia 80 1 rec.
| |__hereditary spastic paraplegia 88 2 rec.
| |__hereditary spastic paraplegia 90A 9 rec.
| |__hereditary spastic paraplegia 90B 1 rec.
| |__hereditary spastic paraplegia 91 1 rec.
| |__hereditary spherocytosis type 1 1 rec.
| |__hereditary spherocytosis type 2 1 rec.
| |__hereditary spherocytosis type 4 1 rec.
| |__holoprosencephaly 1
| |__holoprosencephaly 2 1 rec.
| |__holoprosencephaly 3 1 rec.
| |__holoprosencephaly 4 2 rec.
| |__holoprosencephaly 5 1 rec.
| |__holoprosencephaly 7 1 rec.
| |__holoprosencephaly 9 1 rec.
| |__holoprosencephaly 11 2 rec.
| |__holoprosencephaly 12 1 rec.
| |__Holt-Oram syndrome 1 rec.
| |__hot water epilepsy 1
| |__hyper IgE recurrent infection syndrome 1 1 rec.
| |__hyperalphalipoproteinemia 1
| |__hyperekplexia 1 8 rec.
| |__hyperekplexia 3 8 rec.
| |__hyperferritinemia-cataract syndrome 3 rec.
| |__hypertension and brachydactyly syndrome 2 rec.
| |__hypochondroplasia 1 rec.
| |__hypogonadotropic hypogonadism 2 with or without anosmia 1 rec.
| |__hypogonadotropic hypogonadism 3 with or without anosmia
| |__hypogonadotropic hypogonadism 4 with or without anosmia
| |__hypogonadotropic hypogonadism 5 with or without anosmia 1 rec.
| |__hypogonadotropic hypogonadism 6 with or without anosmia
| |__hypogonadotropic hypogonadism 9 with or without anosmia
| |__hypogonadotropic hypogonadism 14 with or without anosmia
| |__hypogonadotropic hypogonadism 15 with or without anosmia 1 rec.
| |__hypogonadotropic hypogonadism 16 with or without anosmia 2 rec.
| |__hypogonadotropic hypogonadism 17 with or without anosmia 1 rec.
| |__hypogonadotropic hypogonadism 18 with or without anosmia
| |__hypogonadotropic hypogonadism 19 with or without anosmia 1 rec.
| |__hypogonadotropic hypogonadism 20 with or without anosmia
| |__hypogonadotropic hypogonadism 21 with or without anosmia 1 rec.
| |__hypoinsulinemic hypoglycemia with hemihypertrophy 1 rec.
| |__hypomyelinating leukodystrophy 6 4 rec.
| |__hypomyelinating leukodystrophy 16
| |__hypomyelinating leukodystrophy 19 1 rec.
| |__hypomyelinating leukodystrophy 22
| |__hypomyelinating leukodystrophy 24 2 rec.
| |__hypomyelinating leukodystrophy 25
| |__hypophosphatemic nephrolithiasis/osteoporosis 1
| |__hypophosphatemic nephrolithiasis/osteoporosis 2 3 rec.
| |__hypoplastic or aplastic tibia with polydactyly
| |__hypotonia, ataxia, and delayed development syndrome 5 rec.
| |__hypotrichosis 1
| |__hypotrichosis 2
| |__hypotrichosis 3
| |__hypotrichosis 4
| |__hypotrichosis 5 2 rec.
| |__hypotrichosis 11 1 rec.
| |__hypotrichosis 12 1 rec.
| |__hypotrichosis 13
| |__hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 1 rec.
| |__ichthyosis vulgaris
| |__idiopathic pulmonary fibrosis
| |__immunodeficiency 11B
| |__immunodeficiency 13 1 rec.
| |__immunodeficiency 14 1 rec.
| |__immunodeficiency 15A 1 rec.
| |__immunodeficiency 21 2 rec.
| |__immunodeficiency 27B
| |__immunodeficiency 31A 1 rec.
| |__immunodeficiency 31C 1 rec.
| |__immunodeficiency 32A
| |__immunodeficiency 36 1 rec.
| |__immunodeficiency 39
| |__immunodeficiency 49 1 rec.
| |__immunodeficiency 60
| |__immunodeficiency 70 6 rec.
| |__immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis 3 rec.
| |__immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 3 rec.
| |__immunodeficiency 82 1 rec.
| |__immunodeficiency 84 1 rec.
| |__immunodeficiency 85 1 rec.
| |__immunodeficiency 94
| |__immunodeficiency 100
| |__immunodeficiency 101 1 rec.
| |__immunodeficiency 107
| |__immunodeficiency 121 3 rec.
| |__immunodeficiency 131
| |__immunodeficiency 132A 1 rec.
| |__immunodeficiency 132B 1 rec.
| |__immunodeficiency 133 1 rec.
| |__inclusion body myopathy and brain white matter abnormalities 2 rec.
| |__inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 15 rec.
| |__inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 13 rec.
| |__inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 5 rec.
| |__infantile onset multisystem autoimmune disease 1 1 rec.
| |__infantile-onset distal myopathy
| |__inflammatory bowel disease 3
| |__inflammatory bowel disease 21
| |__inflammatory bowel disease 29
| |__inflammatory bowel disease 30
| |__intellectual disability-severe speech delay-mild dysmorphism syndrome 2 rec.
| |__interstitial lung disease 1
| |__interstitial lung disease 2 1 rec.
| |__intracranial berry aneurysm 1
| |__intracranial berry aneurysm 3
| |__intrahepatic cholestasis of pregnancy 1 1 rec.
| |__intrahepatic cholestasis of pregnancy 3 4 rec.
| |__iridogoniodysgenesis syndrome 2 rec.
| |__ischiocoxopodopatellar syndrome 1 rec.
| |__isolated elevated serum creatine phosphokinase levels
| |__isolated microphthalmia 7
| |__isolated mitochondrial myopathy 3 rec.
| |__ITM2B-related cerebral amyloid angiopathy 1 3 rec.
| |__ITM2B-related cerebral amyloid angiopathy 2 3 rec.
| |__IVIC syndrome 1 rec.
| |__Jansen's metaphyseal chondrodysplasia 1 rec.
| |__juvenile amyotrophic lateral sclerosis type 27 1 rec.
| |__juvenile glaucoma 1 rec.
| |__juvenile polyposis syndrome 31 rec.
| |__juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome 1 rec.
| |__Kenny-Caffey syndrome type 2
| |__keratosis palmoplantaris striata 1
| |__keratosis palmoplantaris striata 2 1 rec.
| |__keratosis palmoplantaris striata 3
| |__King Denborough syndrome 1 rec.
| |__KINSSHIP syndrome 1 rec.
| |__Kleefstra syndrome 1 4 rec.
| |__Kleefstra syndrome 2 4 rec.
| |__Klippel-Feil syndrome 1
| |__Klippel-Feil syndrome 3
| |__Kniest dysplasia
| |__Koolen de Vries syndrome 3 rec.
| |__lacrimoauriculodentodigital syndrome 1 2 rec.
| |__lacrimoauriculodentodigital syndrome 2 1 rec.
| |__lacrimoauriculodentodigital syndrome 3 1 rec.
| |__Larsen syndrome 3 rec.
| |__lateral meningocele syndrome 1 rec.
| |__lattice corneal dystrophy 3 rec.
| |__Laurin-Sandrow syndrome 1 rec.
| |__Leber congenital amaurosis 11 1 rec.
| |__Leber congenital amaurosis 13 8 rec.
| |__Leber congenital amaurosis with early-onset deafness 3 rec.
| |__Legius syndrome 1 rec.
| |__Lenz-Majewski hyperostotic dwarfism 1 rec.
| |__leucine-sensitive hypoglycemia of infancy 11 rec.
| |__Li-Fraumeni syndrome(+) 3 rec.
| |__lissencephaly 1 1 rec.
| |__lissencephaly 3 4 rec.
| |__lissencephaly 9 with complex brainstem malformation 1 rec.
| |__lissencephaly 10
| |__Loeys-Dietz syndrome(+) 6 rec.
| |__long QT syndrome 1 2 rec.
| |__long QT syndrome 2 3 rec.
| |__long QT syndrome 3 2 rec.
| |__long QT syndrome 4
| |__long QT syndrome 5
| |__long QT syndrome 6
| |__long QT syndrome 8 1 rec.
| |__long QT syndrome 9
| |__long QT syndrome 10
| |__long QT syndrome 11 1 rec.
| |__long QT syndrome 12 1 rec.
| |__long QT syndrome 13 2 rec.
| |__long QT syndrome 14 8 rec.
| |__long QT syndrome 15 8 rec.
| |__long QT syndrome 16 8 rec.
| |__lymphedema-distichiasis syndrome 1 rec.
| |__Lynch syndrome(+) 5 rec.
| |__macrocephaly-autism syndrome 2 rec.
| |__malignant hyperthermia
| |__mandibulofacial dysostosis, Guion-Almeida type 1 rec.
| |__Marsili syndrome 1 rec.
| |__maturity-onset diabetes of the young(+) 38 rec.
| |__Meesmann corneal dystrophy 1
| |__Meesmann corneal dystrophy 2
| |__mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1 rec.
| |__megalencephalic leukoencephalopathy with subcortical cysts 2B
| |__Meier-Gorlin syndrome 6 1 rec.
| |__melanoma and neural system tumor syndrome
| |__metachondromatosis 1 rec.
| |__metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome 3 rec.
| |__metatropic dysplasia 1 rec.
| |__microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 2 rec.
| |__Miller-Dieker lissencephaly syndrome
| |__mirror movements 1 2 rec.
| |__mirror movements 2 1 rec.
| |__mirror movements 4 2 rec.
| |__Mitchell syndrome 12 rec.
| |__mitochondrial complex V (ATP synthase) deficiency nuclear type 4A 1 rec.
| |__mitochondrial DNA depletion syndrome 12a 2 rec.
| |__Miura type epiphyseal chondrodysplasia 5 rec.
| |__Moebius syndrome
| |__monilethrix(+)
| |__Mowat-Wilson syndrome 1 rec.
| |__Muckle-Wells syndrome
| |__Muenke Syndrome 1 rec.
| |__Mullerian aplasia and hyperandrogenism 2 rec.
| |__multicentric carpotarsal osteolysis syndrome 1 rec.
| |__multiple cutaneous and mucosal venous malformations 3 rec.
| |__multiple endocrine neoplasia type 1 9 rec.
| |__multiple endocrine neoplasia type 2A 36 rec.
| |__multiple endocrine neoplasia type 2B 60 rec.
| |__multiple endocrine neoplasia type 4 1 rec.
| |__multiple epiphyseal dysplasia 1 1 rec.
| |__multiple epiphyseal dysplasia 2
| |__multiple epiphyseal dysplasia 3
| |__multiple epiphyseal dysplasia 5
| |__multiple epiphyseal dysplasia 6
| |__multiple epiphyseal dysplasia with myopia and deafness
| |__multiple familial trichoepithelioma 1 1 rec.
| |__multiple synostoses syndrome(+) 1 rec.
| |__multiple types of congenital heart defects 6
| |__myoclonic dystonia 11 1 rec.
| |__myoclonic dystonia 15
| |__myoclonic dystonia 26 1 rec.
| |__myoclonic dystonia 34 1 rec.
| |__myoclonic-atonic epilepsy 15 rec.
| |__myofibrillar myopathy 1
| |__myofibrillar myopathy 3
| |__myofibrillar myopathy 4 7 rec.
| |__myofibrillar myopathy 5 5 rec.
| |__myofibrillar myopathy 6 1 rec.
| |__myofibrillar myopathy 13 with rimmed vacuoles 6 rec.
| |__myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 1 rec.
| |__Naegeli-Franceschetti-Jadassohn syndrome
| |__nail-patella syndrome 2 rec.
| |__nemaline myopathy 4 6 rec.
| |__nemaline myopathy 5C 1 rec.
| |__nemaline myopathy 6
| |__nephrogenic diabetes insipidus type 2 6 rec.
| |__nephrotic syndrome type 4 1 rec.
| |__neurodegeneration with brain iron accumulation 3 3 rec.
| |__neurodevelopmental disorder with involuntary movements 1 rec.
| |__neurofibromatosis(+) 100 rec.
| |__neurofibromatosis-Noonan syndrome 1 rec.
| |__neurogenic scapuloperoneal syndrome Kaeser type
| |__neurohypophyseal diabetes insipidus
| |__neuronal ceroid lipofuscinosis 4 17 rec.
| |__neuronal ceroid lipofuscinosis 15 1 rec.
| |__neuronal intranuclear inclusion disease 7 rec.
| |__neurooculocardiogenitourinary syndrome 6 rec.
| |__nevoid basal cell carcinoma syndrome 1 1 rec.
| |__NFIA-related disorder 4 rec.
| |__Nicolaides-Baraitser syndrome 3 rec.
| |__Nil-Deshwan neurodevelopmental syndrome 2 rec.
| |__nonautoimmune hyperthyroidism 1 rec.
| |__nonsyndromic congenital nail disorder 1 1 rec.
| |__nonsyndromic congenital nail disorder 2
| |__nonsyndromic congenital nail disorder 3 2 rec.
| |__nonsyndromic congenital nail disorder 5
| |__nonsyndromic congenital nail disorder 6
| |__nonsyndromic congenital nail disorder 7
| |__nonsyndromic congenital nail disorder 8
| |__Noonan syndrome 1 10 rec.
| |__Noonan syndrome 3 5 rec.
| |__Noonan syndrome 4 1 rec.
| |__Noonan syndrome 5 2 rec.
| |__Noonan syndrome 6 1 rec.
| |__Noonan syndrome 7 2 rec.
| |__Noonan syndrome 8 2 rec.
| |__Noonan syndrome 9 1 rec.
| |__Noonan syndrome 10 1 rec.
| |__Noonan syndrome 11 4 rec.
| |__Noonan syndrome 12 4 rec.
| |__Noonan syndrome 13 1 rec.
| |__Noonan syndrome with multiple lentigines(+) 15 rec.
| |__oblique facial clefting 1 1 rec.
| |__ocular albinism with sensorineural deafness
| |__oculopharyngodistal myopathy 1
| |__oculopharyngodistal myopathy 2 1 rec.
| |__oculopharyngodistal myopathy 3
| |__oculopharyngodistal myopathy 4 1 rec.
| |__omodysplasia 2 1 rec.
| |__optic atrophy 1 10 rec.
| |__optic atrophy 3 3 rec.
| |__optic atrophy 4
| |__optic atrophy 5 1 rec.
| |__optic atrophy 8
| |__optic atrophy 10 1 rec.
| |__optic atrophy 12 2 rec.
| |__orofacial cleft 1
| |__orofacial cleft 6
| |__orofacial cleft 13
| |__orofaciodigital syndrome X
| |__osteogenesis imperfecta type 1
| |__osteogenesis imperfecta type 2
| |__osteogenesis imperfecta type 3
| |__osteogenesis imperfecta type 4
| |__osteogenesis imperfecta type 5
| |__osteoglophonic dysplasia 1 rec.
| |__otosclerosis(+) 4 rec.
| |__otospondylomegaepiphyseal dysplasia, autosomal dominant
| |__ovarian dysgenesis 8 1 rec.
| |__overhydrated hereditary stomatocytosis 2 rec.
| |__pachyonychia congenita
| |__Paget's disease of bone 2
| |__Paget's disease of bone 3 1 rec.
| |__Paget's disease of bone 4
| |__Paget's disease of bone 6
| |__Pallister-Hall syndrome 1 rec.
| |__palmoplantar keratoderma-deafness syndrome
| |__palmoplantar keratoderma-esophageal carcinoma syndrome 1 rec.
| |__Pan-Chung-Bellen syndrome 2 rec.
| |__pancreatic hypoplasia-diabetes-congenital heart disease syndrome 3 rec.
| |__PAPA syndrome
| |__paraganglioma 9 rec.
| |__paramyotonia congenita of Von Eulenburg 1 rec.
| |__parastremmatic dwarfism 1 rec.
| |__Parkinson's disease 1 252 rec.
| |__Parkinson's disease 3
| |__Parkinson's disease 4 2 rec.
| |__Parkinson's disease 8 101 rec.
| |__Parkinson's disease 17 4 rec.
| |__Parkinson's disease 21 4 rec.
| |__Parkinson's disease 22 14 rec.
| |__paroxysmal extreme pain disorder 1 rec.
| |__paroxysmal nonkinesigenic dyskinesia 1 1 rec.
| |__paroxysmal nonkinesigenic dyskinesia 2
| |__paroxysmal nonkinesigenic dyskinesia 3 5 rec.
| |__PCWH syndrome 1 rec.
| |__Pelger-Huet anomaly 1 rec.
| |__permanent neonatal diabetes mellitus 9 rec.
| |__Peroxisome biogenesis disorder 4B 1 rec.
| |__Perry syndrome 6 rec.
| |__Pfeiffer syndrome 2 rec.
| |__piebaldism 1 rec.
| |__pigmented paravenous chorioretinal atrophy 1 rec.
| |__Pitt-Hopkins syndrome 8 rec.
| |__platelet-type bleeding disorder 3 1 rec.
| |__platelet-type bleeding disorder 9
| |__platelet-type bleeding disorder 12
| |__platelet-type bleeding disorder 14
| |__platelet-type bleeding disorder 15 1 rec.
| |__platelet-type bleeding disorder 16 1 rec.
| |__platelet-type bleeding disorder 17 1 rec.
| |__platelet-type bleeding disorder 20
| |__polycystic liver disease(+) 6 rec.
| |__poor metabolism of thiopurines 2
| |__popliteal pterygium syndrome
| |__posterior amorphous corneal dystrophy
| |__posterior polymorphous corneal dystrophy 1 1 rec.
| |__posterior polymorphous corneal dystrophy 2
| |__posterior polymorphous corneal dystrophy 4 1 rec.
| |__preaxial polydactyly II
| |__preaxial polydactyly type IV 1 rec.
| |__primary ciliary dyskinesia 43 9 rec.
| |__primary failure of tooth eruption 1 rec.
| |__primary ovarian insufficiency 3 2 rec.
| |__primary ovarian insufficiency 5
| |__primary ovarian insufficiency 6 1 rec.
| |__primary ovarian insufficiency 7 2 rec.
| |__primary ovarian insufficiency 11
| |__primary ovarian insufficiency 16 2 rec.
| |__primary pigmented nodular adrenocortical disease 1 1 rec.
| |__primary pigmented nodular adrenocortical disease 2 1 rec.
| |__primary pigmented nodular adrenocortical disease 4 3 rec.
| |__progeria 8 rec.
| |__progressive familial heart block type IA 2 rec.
| |__progressive familial heart block type IB 1 rec.
| |__progressive familial heart block type II
| |__progressive myoclonus epilepsy 7 1 rec.
| |__progressive osseous heteroplasia 2 rec.
| |__protein C deficiency(+) 1 rec.
| |__proteosome-associated autoinflammatory syndrome 2 1 rec.
| |__prothrombin thrombophilia 11 rec.
| |__proximal symphalangism(+)
| |__pseudoachondroplasia 1 rec.
| |__pulmonary venoocclusive disease 1 1 rec.
| |__punctate palmoplantar keratoderma type II
| |__punctate palmoplantar keratoderma type III
| |__Rapp-Hodgkin syndrome 1 rec.
| |__renal coloboma syndrome 2 rec.
| |__renal hypomagnesemia 7, with or without dilated cardiomyopathy 1 rec.
| |__retinal arterial tortuosity 2 rec.
| |__retinal cone dystrophy 1
| |__retinal macular dystrophy(+) 9 rec.
| |__retinal vasculopathy with cerebral leukodystrophy 8 rec.
| |__retinitis pigmentosa 1
| |__retinitis pigmentosa 4 50 rec.
| |__retinitis pigmentosa 7 5 rec.
| |__retinitis pigmentosa 9
| |__retinitis pigmentosa 10 1 rec.
| |__retinitis pigmentosa 11 5 rec.
| |__retinitis pigmentosa 13 11 rec.
| |__retinitis pigmentosa 17
| |__retinitis pigmentosa 18 1 rec.
| |__retinitis pigmentosa 27 1 rec.
| |__retinitis pigmentosa 33 1 rec.
| |__retinitis pigmentosa 35 5 rec.
| |__retinitis pigmentosa 37 1 rec.
| |__retinitis pigmentosa 42 6 rec.
| |__retinitis pigmentosa 60 1 rec.
| |__retinitis pigmentosa 63
| |__retinitis pigmentosa 70 1 rec.
| |__retinitis pigmentosa 79 1 rec.
| |__retinitis pigmentosa 83 1 rec.
| |__retinitis pigmentosa 87 1 rec.
| |__retinitis pigmentosa 89 1 rec.
| |__retinitis pigmentosa 91
| |__retinitis pigmentosa 96 4 rec.
| |__retinitis pigmentosa 97 1 rec.
| |__retinitis pigmentosa-deafness syndrome
| |__Revesz syndrome
| |__rhabdoid tumor predisposition syndrome(+) 2 rec.
| |__ring dermoid of cornea 1 rec.
| |__rippling muscle disease 2
| |__Rubinstein-Taybi syndrome 4 rec.
| |__SADDAN 1 rec.
| |__Saethre-Chotzen syndrome 3 rec.
| |__Saul-Wilson syndrome 1 rec.
| |__scalp-ear-nipple syndrome 1 rec.
| |__scapuloperoneal spinal muscular atrophy 3 rec.
| |__Schinzel Giedion syndrome
| |__schizophrenia 1
| |__schizophrenia 2
| |__schizophrenia 3
| |__schizophrenia 4 1 rec.
| |__schizophrenia 5
| |__schizophrenia 6 1 rec.
| |__schizophrenia 7
| |__schizophrenia 8
| |__schizophrenia 10
| |__schizophrenia 11
| |__schizophrenia 12
| |__schizophrenia 15 1 rec.
| |__Schnyder corneal dystrophy 1 rec.
| |__Schopf-Schulz-Passarge syndrome 1 rec.
| |__schwannomatosis(+) 4 rec.
| |__sclerosteosis 2 2 rec.
| |__selective pituitary thyroid hormone resistance
| |__sepiapterin reductase deficiency 2 rec.
| |__severe congenital neutropenia 1 9 rec.
| |__short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 1 rec.
| |__SHORT syndrome 1 rec.
| |__snowflake vitreoretinal degeneration 2 rec.
| |__solitary median maxillary central incisor 1 rec.
| |__Sorsby's fundus dystrophy 1 rec.
| |__Sotos syndrome 1 3 rec.
| |__Sotos syndrome 2 1 rec.
| |__spastic ataxia 1 1 rec.
| |__spastic ataxia 7
| |__speech-language disorder-1 2 rec.
| |__spermatogenic failure 2 2 rec.
| |__spermatogenic failure 3 1 rec.
| |__spermatogenic failure 4
| |__spermatogenic failure 8 2 rec.
| |__spermatogenic failure 10 1 rec.
| |__spermatogenic failure 11 1 rec.
| |__spermatogenic failure 12 1 rec.
| |__spermatogenic failure 32
| |__spermatogenic failure 36
| |__spinal muscular atrophy with lower extremity predominant(+) 7 rec.
| |__spinal muscular atrophy, Jokela type 5 rec.
| |__split hand-foot malformation 1 1 rec.
| |__split hand-foot malformation 4 1 rec.
| |__spondyloepimetaphyseal dysplasia with joint laxity type 2 2 rec.
| |__spondyloepimetaphyseal dysplasia, Missouri type 1 rec.
| |__spondyloepimetaphyseal dysplasia, Strudwick type
| |__spondyloepiphyseal dysplasia congenita
| |__spondyloepiphyseal dysplasia Kimberley type
| |__spondyloepiphyseal dysplasia Maroteaux type 1 rec.
| |__spondyloepiphyseal dysplasia Nishimura type
| |__spondyloepiphyseal dysplasia Stanescu type
| |__spondylometaphyseal dysplasia corner fracture type
| |__spondylometaphyseal dysplasia Kozlowski type 1 rec.
| |__spondyloperipheral dysplasia
| |__steatocystoma multiplex
| |__Stickler syndrome 1
| |__Stickler syndrome 2 1 rec.
| |__stiff skin syndrome 2 rec.
| |__STING-associated vasculopathy with onset in infancy 1 rec.
| |__Stormorken syndrome 1 rec.
| |__striatal degeneration 2 1 rec.
| |__Sweeney-Cox syndrome 1 rec.
| |__syndactyly type 1
| |__syndactyly type 3
| |__syndactyly type 4 1 rec.
| |__syndactyly type 5
| |__syndactyly-telecanthus-anogenital and renal malformations syndrome 1 rec.
| |__syndromic microphthalmia 3 2 rec.
| |__syndromic microphthalmia 5 1 rec.
| |__syndromic microphthalmia 6 1 rec.
| |__tarsal-carpal coalition syndrome
| |__Tatton-Brown-Rahman syndrome
| |__Teebi hypertelorism syndrome 1 1 rec.
| |__terminal osseous dysplasia 2 rec.
| |__Thiel-Behnke corneal dystrophy 3 rec.
| |__Thomsen disease 1 rec.
| |__thrombophilia due to activated protein C resistance
| |__thrombophilia due to HRG deficiency
| |__thrombophilia due to thrombin defect 11 rec.
| |__tibial muscular dystrophy 3 rec.
| |__Tietz syndrome 1 rec.
| |__Timothy syndrome 1 rec.
| |__TNF receptor–associated periodic syndrome
| |__torsion dystonia 1 2 rec.
| |__torsion dystonia 4 4 rec.
| |__torsion dystonia 6 1 rec.
| |__torsion dystonia 7
| |__torsion dystonia 13
| |__torsion dystonia with onset in infancy
| |__Townes-Brocks syndrome 5 rec.
| |__transient neonatal diabetes mellitus 2 11 rec.
| |__transient neonatal diabetes mellitus 3 2 rec.
| |__transthyretin amyloidosis 24 rec.
| |__Treacher Collins syndrome(+) 5 rec.
| |__trichodontoosseous syndrome 1 rec.
| |__trichorhinophalangeal syndrome type I 1 rec.
| |__trichorhinophalangeal syndrome type II
| |__trichorhinophalangeal syndrome type III 1 rec.
| |__tuberous sclerosis(+) 33 rec.
| |__tubular aggregate myopathy 1 1 rec.
| |__tubular aggregate myopathy 2 1 rec.
| |__type 1 diabetes mellitus 2
| |__typical adult-onset autosomal dominant demyelinating leukodystrophy 2 rec.
| |__Ullrich congenital muscular dystrophy(+)
| |__ulnar-mammary syndrome 8 rec.
| |__uveal coloboma-cleft lip and palate-intellectual disability 1 rec.
| |__variant ABeta2M amyloidosis
| |__vascular type Ehlers-Danlos syndrome
| |__vertebral anomalies and variable endocrine and T-cell dysfunction 2 rec.
| |__vertebral hypersegmentation and orofacial anomalies 5 rec.
| |__visceral heterotaxy 2
| |__visceral heterotaxy 5 2 rec.
| |__Vissers-Bodmer syndrome 30 rec.
| |__Vohwinkel syndrome
| |__Waardenburg syndrome(+) 7 rec.
| |__warfarin sensitivity
| |__Watson syndrome 1 rec.
| |__Weaver syndrome 1 rec.
| |__Weyers acrofacial dysostosis
| |__WHIM syndrome 1
| |__white sponge nevus 1
| |__white sponge nevus 2
| |__Williams-Beuren syndrome 4 rec.
| |__Worth syndrome 2 rec.
| |__ZTTK syndrome 1 rec.
|__autosomal hemophilia A
|__autosomal recessive disease 3654 rec.
| |__2-aminoadipic 2-oxoadipic aciduria 1 rec.
| |__3-hydroxy-3-methylglutaryl-CoA lyase deficiency 1 rec.
| |__3-hydroxyisobutryl-CoA hydrolase deficiency 2 rec.
| |__3-M syndrome 3 rec.
| |__3-methylcrotonyl-CoA carboxylase deficiency(+) 3 rec.
| |__3-methylglutaconic aciduria type 1 3 rec.
| |__3-methylglutaconic aciduria type 3 3 rec.
| |__3-methylglutaconic aciduria type 5 2 rec.
| |__3-methylglutaconic aciduria type 8 1 rec.
| |__3-methylglutaconic aciduria type 9 3 rec.
| |__3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia(+)
| |__3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2 rec.
| |__3MC syndrome(+) 13 rec.
| |__17-beta hydroxysteroid dehydrogenase 3 deficiency 1 rec.
| |__46,XY sex reversal 5 1 rec.
| |__46,XY sex reversal 7 1 rec.
| |__46,XY sex reversal 8 3 rec.
| |__ABCD syndrome
| |__abetalipoproteinemia 1 rec.
| |__aceruloplasminemia 4 rec.
| |__achalasia microcephaly syndrome
| |__acheiropody 1 rec.
| |__achondrogenesis type IA 1 rec.
| |__achondrogenesis type IB 1 rec.
| |__achromatopsia 2 1 rec.
| |__achromatopsia 3 1 rec.
| |__achromatopsia 7 1 rec.
| |__acrocapitofemoral dysplasia 1 rec.
| |__acromesomelic dysplasia 3 1 rec.
| |__acromesomelic dysplasia 4 2 rec.
| |__acromesomelic dysplasia, Grebe type
| |__acromesomelic dysplasia, Hunter-Thompson type
| |__acromesomelic dysplasia, Maroteaux type 5 rec.
| |__acrorenal syndrome
| |__adenine phosphoribosyltransferase deficiency 1 rec.
| |__adult spinal muscular atrophy 2 rec.
| |__agammaglobulinemia 1
| |__agammaglobulinemia 2
| |__agammaglobulinemia 3
| |__agammaglobulinemia 4 1 rec.
| |__agammaglobulinemia 6
| |__agammaglobulinemia 7 1 rec.
| |__agammaglobulinemia 8B 1 rec.
| |__agammaglobulinemia 9 1 rec.
| |__AGAT deficiency
| |__agenesis of the corpus callosum with peripheral neuropathy 1 rec.
| |__alacrima, achalasia, and impaired intellectual development syndrome 1 rec.
| |__Alkuraya-Kucinskas syndrome 1 rec.
| |__alopecia universalis 1 rec.
| |__alopecia, neurologic defects, and endocrinopathy syndrome 1 rec.
| |__alopecia-mental retardation syndrome 1
| |__alopecia-mental retardation syndrome 2
| |__alopecia-mental retardation syndrome 3
| |__alopecia-mental retardation syndrome 4
| |__Alpers-Huttenlocher syndrome 6 rec.
| |__alpha-2-plasmin inhibitor deficiency 1 rec.
| |__Alstrom syndrome
| |__AMED syndrome 1 rec.
| |__amelogenesis imperfecta hypomaturation type 2A2 1 rec.
| |__amelogenesis imperfecta hypomaturation type 2A3 1 rec.
| |__amelogenesis imperfecta hypomaturation type 2A4
| |__amelogenesis imperfecta hypomaturation type 2A5 3 rec.
| |__amelogenesis imperfecta type 1C
| |__amelogenesis imperfecta type 1F
| |__amelogenesis imperfecta type 1G 1 rec.
| |__amelogenesis imperfecta type 1H 2 rec.
| |__amelogenesis imperfecta type 1J 3 rec.
| |__amelogenesis imperfecta type 2A1 5 rec.
| |__amelogenesis imperfecta type 2A6
| |__amelogenesis imperfecta type 3C
| |__amyotrophic lateral sclerosis type 1 40 rec.
| |__anauxetic dysplasia 1
| |__anauxetic dysplasia 2 1 rec.
| |__anauxetic dysplasia 3 1 rec.
| |__anterior segment dysgenesis 2 3 rec.
| |__anterior segment dysgenesis 7 7 rec.
| |__anterior segment dysgenesis 8 3 rec.
| |__antithrombin III deficiency 5 rec.
| |__Antley-Bixler syndrome with disordered steroidogenesis 1 rec.
| |__ARC syndrome(+) 8 rec.
| |__arthrogryposis multiplex congenita(+) 5 rec.
| |__asphyxiating thoracic dystrophy 1
| |__asphyxiating thoracic dystrophy 2 1 rec.
| |__asphyxiating thoracic dystrophy 3 1 rec.
| |__asphyxiating thoracic dystrophy 4
| |__asphyxiating thoracic dystrophy 5 1 rec.
| |__Athabaskan brainstem dysgenesis syndrome 1 rec.
| |__atransferrinemia 2 rec.
| |__atrial standstill 2
| |__atrichia with papular lesions 1 rec.
| |__autoimmune lymphoproliferative syndrome type 2B 2 rec.
| |__autoimmune lymphoproliferative syndrome type 3 1 rec.
| |__autosomal recessive Alport syndrome 2 rec.
| |__autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome
| |__autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis 1 rec.
| |__autosomal recessive centronuclear myopathy(+) 7 rec.
| |__autosomal recessive cerebellar ataxia(+) 209 rec.
| |__autosomal recessive chronic granulomatous disease 1
| |__autosomal recessive chronic granulomatous disease 2
| |__autosomal recessive chronic granulomatous disease 3
| |__autosomal recessive chronic granulomatous disease 4
| |__autosomal recessive chronic granulomatous disease 5
| |__autosomal recessive congenital bilateral absence of vas deferens 3 rec.
| |__autosomal recessive congenital ichthyosis(+) 45 rec.
| |__autosomal recessive congenital nystagmus(+) 6 rec.
| |__autosomal recessive craniometaphyseal dysplasia
| |__autosomal recessive cutis laxa type I(+) 2 rec.
| |__autosomal recessive cutis laxa type II classic type(+) 9 rec.
| |__autosomal recessive cutis laxa type IIB 2 rec.
| |__autosomal recessive cutis laxa type III(+) 3 rec.
| |__autosomal recessive distal hereditary motor neuronopathy(+) 14 rec.
| |__autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss 1 rec.
| |__autosomal recessive dyskeratosis congenita 1 1 rec.
| |__autosomal recessive dyskeratosis congenita 2 1 rec.
| |__autosomal recessive dyskeratosis congenita 3 1 rec.
| |__autosomal recessive dyskeratosis congenita 4
| |__autosomal recessive dyskeratosis congenita 5 1 rec.
| |__autosomal recessive dyskeratosis congenita 6
| |__autosomal recessive Emery-Dreifuss muscular dystrophy 3 4 rec.
| |__autosomal recessive hyaline body myopathy 1 rec.
| |__autosomal recessive hypophosphatemic rickets
| |__autosomal recessive intellectual developmental disorder(+) 201 rec.
| |__autosomal recessive isolated ectopia lentis 2 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy(+) 55 rec.
| |__autosomal recessive nonsyndromic deafness(+) 79 rec.
| |__autosomal recessive osteopetrosis 1 5 rec.
| |__autosomal recessive osteopetrosis 2
| |__autosomal recessive osteopetrosis 3 1 rec.
| |__autosomal recessive osteopetrosis 4 1 rec.
| |__autosomal recessive osteopetrosis 5 1 rec.
| |__autosomal recessive osteopetrosis 6 1 rec.
| |__autosomal recessive osteopetrosis 7
| |__autosomal recessive osteopetrosis 8 1 rec.
| |__autosomal recessive pericentral pigmentary retinopathy
| |__autosomal recessive polycystic kidney disease(+) 1 rec.
| |__autosomal recessive progressive external ophthalmoplegia 1 2 rec.
| |__autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1 rec.
| |__autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1 rec.
| |__autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 1 rec.
| |__autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1 rec.
| |__autosomal recessive proximal renal tubular acidosis
| |__autosomal recessive pseudohypoaldosteronism type 1 3 rec.
| |__autosomal recessive pyridoxine-refractory sideroblastic anemia 2
| |__autosomal recessive pyridoxine-refractory sideroblastic anemia 3 1 rec.
| |__autosomal recessive Robinow syndrome 1 rec.
| |__autosomal recessive Robinow syndrome 2
| |__autosomal recessive sensory neuropathy with spastic paraplegia 1 rec.
| |__autosomal recessive spondyloepiphyseal dysplasia tarda
| |__autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
| |__autosomal recessive thrombophilia due to protein C deficiency 1 rec.
| |__autosomal recessive thrombophilia due to protein S deficiency
| |__autosomal recessive type IV Ehlers-Danlos syndrome
| |__autosomal recessive Whistling face syndrome
| |__autosomal recessive woolly hair 3
| |__axial spondylometaphyseal dysplasia 2 rec.
| |__Bardet-Biedl syndrome(+) 20 rec.
| |__Becker disease 1 rec.
| |__Behr syndrome 1 rec.
| |__benign recurrent intrahepatic cholestasis 1 1 rec.
| |__benign recurrent intrahepatic cholestasis 2 1 rec.
| |__bent bone dysplasia syndrome 2 1 rec.
| |__Bernard-Soulier syndrome(+) 1 rec.
| |__beta-ketothiolase deficiency 1 rec.
| |__BH4-deficient hyperphenylalaninemia A 1 rec.
| |__BH4-deficient hyperphenylalaninemia B 1 rec.
| |__BH4-deficient hyperphenylalaninemia C 1 rec.
| |__BH4-deficient hyperphenylalaninemia D 1 rec.
| |__bilateral frontoparietal polymicrogyria 2 rec.
| |__bilateral parasagittal parieto-occipital polymicrogyria 1 rec.
| |__biotinidase deficiency 4 rec.
| |__Bjornstad syndrome 1 rec.
| |__Bloom syndrome 17 rec.
| |__Boucher-Neuhauser syndrome 5 rec.
| |__Bowen-Conradi syndrome 1 rec.
| |__brachyolmia-amelogenesis imperfecta syndrome 2 rec.
| |__bradyopsia(+) 1 rec.
| |__brain small vessel disease 3 1 rec.
| |__branched-chain keto acid dehydrogenase kinase deficiency 1 rec.
| |__brittle cornea syndrome 1
| |__brittle cornea syndrome 2
| |__Brown-Vialetto-Van Laere syndrome 1 2 rec.
| |__Brown-Vialetto-Van Laere syndrome 2 2 rec.
| |__camptodactyly-arthropathy-coxa vara-pericarditis syndrome
| |__Canavan disease
| |__carbamoyl phosphate synthetase I deficiency disease 1 rec.
| |__carboxypeptidase N deficiency 1 rec.
| |__Carey-Fineman-Ziter syndrome 1 1 rec.
| |__Carey-Fineman-Ziter syndrome 2
| |__carnitine-acylcarnitine translocase deficiency 2 rec.
| |__Caroli syndrome
| |__Carpenter syndrome 1 1 rec.
| |__Carpenter syndrome 2 1 rec.
| |__cartilage-hair hypoplasia
| |__cataract 9 multiple types 11 rec.
| |__cataract 11 multiple types 1 rec.
| |__cataract 13 with adult i phenotype 1 rec.
| |__cataract 16 multiple types 2 rec.
| |__cataract 17 multiple types
| |__cataract 18
| |__cataract 19 multiple types
| |__cataract 22 multiple types
| |__cataract 33
| |__cataract 35
| |__cataract 36 2 rec.
| |__cataract 38 1 rec.
| |__cataract 44
| |__cataract 45 1 rec.
| |__cataract 46 juvenile-onset 1 rec.
| |__cataract 48 4 rec.
| |__CD3epsilon deficiency
| |__CD3gamma deficiency
| |__CEDNIK syndrome 3 rec.
| |__cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome(+) 4 rec.
| |__cerebellar atrophy, visual impairment, and psychomotor retardation 10 rec.
| |__cerebellofaciodental syndrome 1 rec.
| |__cerebral folate receptor alpha deficiency
| |__Charcot-Marie-Tooth disease axonal type 2H
| |__Charcot-Marie-Tooth disease axonal type 2K 3 rec.
| |__Charcot-Marie-Tooth disease axonal type 2P
| |__Charcot-Marie-Tooth disease axonal type 2S 1 rec.
| |__Charcot-Marie-Tooth disease axonal type 2T 15 rec.
| |__Charcot-Marie-Tooth disease axonal type 2X 1 rec.
| |__Charcot-Marie-Tooth disease recessive intermediate A 2 rec.
| |__Charcot-Marie-Tooth disease recessive intermediate B 1 rec.
| |__Charcot-Marie-Tooth disease recessive intermediate C 1 rec.
| |__Charcot-Marie-Tooth disease recessive intermediate D 3 rec.
| |__Charcot-Marie-Tooth disease type 1F
| |__Charcot-Marie-Tooth disease type 2A2B 3 rec.
| |__Charcot-Marie-Tooth disease type 2B1 2 rec.
| |__Charcot-Marie-Tooth disease type 2B2 1 rec.
| |__Charcot-Marie-Tooth disease type 2EE 4 rec.
| |__Charcot-Marie-Tooth disease type 2R 2 rec.
| |__Charcot-Marie-Tooth disease type 3 1 rec.
| |__Charcot-Marie-Tooth disease type 4A 2 rec.
| |__Charcot-Marie-Tooth disease type 4B1 24 rec.
| |__Charcot-Marie-Tooth disease type 4B2 1 rec.
| |__Charcot-Marie-Tooth disease type 4B3 1 rec.
| |__Charcot-Marie-Tooth disease type 4C
| |__Charcot-Marie-Tooth disease type 4D 2 rec.
| |__Charcot-Marie-Tooth disease type 4E 1 rec.
| |__Charcot-Marie-Tooth disease type 4F
| |__Charcot-Marie-Tooth disease type 4G 1 rec.
| |__Charcot-Marie-Tooth disease type 4H 1 rec.
| |__Charcot-Marie-Tooth disease type 4J 6 rec.
| |__Charcot-Marie-Tooth disease type 4K 1 rec.
| |__Chediak-Higashi syndrome 8 rec.
| |__cherubism 2
| |__childhood-onset dystonia with optic atrophy and basal ganglia abnormalities 10 rec.
| |__CHIME syndrome 1 rec.
| |__chondrodysplasia with joint dislocations gPAPP type 1 rec.
| |__choreaacanthocytosis 5 rec.
| |__classic dopamine transporter deficiency syndrome 12 rec.
| |__classic galactosemia 9 rec.
| |__cleft lip-palate-ectodermal dysplasia syndrome
| |__COACH syndrome 1 rec.
| |__Cockayne syndrome(+) 10 rec.
| |__CODAS syndrome 5 rec.
| |__Cohen syndrome 1 rec.
| |__cold-induced sweating syndrome(+) 6 rec.
| |__combined cellular and humoral immune defects with granulomas
| |__combined D-2- and L-2-hydroxyglutaric aciduria 8 rec.
| |__combined deficiency of vitamin K-dependent clotting factors 1 1 rec.
| |__combined deficiency of vitamin K-dependent clotting factors 2 1 rec.
| |__combined malonic and methylmalonic acidemia 1 rec.
| |__combined or isolated pituitary growth hormone deficiency 7 1 rec.
| |__combined or isolated pituitary hormone deficiency 1 1 rec.
| |__combined oxidative phosphorylation deficiency 1 3 rec.
| |__combined oxidative phosphorylation deficiency 2 1 rec.
| |__combined oxidative phosphorylation deficiency 3 1 rec.
| |__combined oxidative phosphorylation deficiency 4 2 rec.
| |__combined oxidative phosphorylation deficiency 5 1 rec.
| |__combined oxidative phosphorylation deficiency 7 1 rec.
| |__combined oxidative phosphorylation deficiency 8 2 rec.
| |__combined oxidative phosphorylation deficiency 9 1 rec.
| |__combined oxidative phosphorylation deficiency 10 1 rec.
| |__combined oxidative phosphorylation deficiency 11 1 rec.
| |__combined oxidative phosphorylation deficiency 12 1 rec.
| |__combined oxidative phosphorylation deficiency 13 1 rec.
| |__combined oxidative phosphorylation deficiency 14 2 rec.
| |__combined oxidative phosphorylation deficiency 15 1 rec.
| |__combined oxidative phosphorylation deficiency 16 1 rec.
| |__combined oxidative phosphorylation deficiency 17 12 rec.
| |__combined oxidative phosphorylation deficiency 18 2 rec.
| |__combined oxidative phosphorylation deficiency 19 1 rec.
| |__combined oxidative phosphorylation deficiency 20 1 rec.
| |__combined oxidative phosphorylation deficiency 21 1 rec.
| |__combined oxidative phosphorylation deficiency 22 1 rec.
| |__combined oxidative phosphorylation deficiency 23 1 rec.
| |__combined oxidative phosphorylation deficiency 24 1 rec.
| |__combined oxidative phosphorylation deficiency 25 1 rec.
| |__combined oxidative phosphorylation deficiency 26 1 rec.
| |__combined oxidative phosphorylation deficiency 27 1 rec.
| |__combined oxidative phosphorylation deficiency 28 7 rec.
| |__combined oxidative phosphorylation deficiency 29 3 rec.
| |__combined oxidative phosphorylation deficiency 30 3 rec.
| |__combined oxidative phosphorylation deficiency 31 1 rec.
| |__combined oxidative phosphorylation deficiency 32 1 rec.
| |__combined oxidative phosphorylation deficiency 33 1 rec.
| |__combined oxidative phosphorylation deficiency 34 1 rec.
| |__combined oxidative phosphorylation deficiency 35 1 rec.
| |__combined oxidative phosphorylation deficiency 36 1 rec.
| |__combined oxidative phosphorylation deficiency 37 3 rec.
| |__combined oxidative phosphorylation deficiency 38 1 rec.
| |__combined oxidative phosphorylation deficiency 39 1 rec.
| |__combined oxidative phosphorylation deficiency 40 1 rec.
| |__combined oxidative phosphorylation deficiency 41 1 rec.
| |__combined oxidative phosphorylation deficiency 42 1 rec.
| |__combined oxidative phosphorylation deficiency 43 1 rec.
| |__combined oxidative phosphorylation deficiency 44
| |__combined oxidative phosphorylation deficiency 45 1 rec.
| |__combined oxidative phosphorylation deficiency 46 1 rec.
| |__combined oxidative phosphorylation deficiency 47 1 rec.
| |__combined oxidative phosphorylation deficiency 48 1 rec.
| |__combined oxidative phosphorylation deficiency 49
| |__combined oxidative phosphorylation deficiency 50 1 rec.
| |__combined oxidative phosphorylation deficiency 51 1 rec.
| |__combined oxidative phosphorylation deficiency 52 1 rec.
| |__combined oxidative phosphorylation deficiency 53 1 rec.
| |__combined oxidative phosphorylation deficiency 54 3 rec.
| |__combined oxidative phosphorylation deficiency 56 1 rec.
| |__combined oxidative phosphorylation deficiency 57 1 rec.
| |__combined pituitary hormone deficiency 2
| |__combined pituitary hormone deficiency 3 1 rec.
| |__common variable immunodeficiency(+) 9 rec.
| |__complex cortical dysplasia with other brain malformations 9 1 rec.
| |__complex cortical dysplasia with other brain malformations 10 2 rec.
| |__complex cortical dysplasia with other brain malformations 11 1 rec.
| |__complex cortical dysplasia with other brain malformations 12 1 rec.
| |__Compton-North congenital myopathy 1 rec.
| |__cone-rod dystrophy 21 1 rec.
| |__cone-rod dystrophy 22 1 rec.
| |__congenital adrenal insufficiency 11 rec.
| |__congenital afibrinogenemia 4 rec.
| |__congenital amegakaryocytic thrombocytopenia(+)
| |__congenital diarrhea 5 with tufting enteropathy
| |__congenital diarrhea 7 with exudative enteropathy 1 rec.
| |__congenital disorder of deglycosylation 1 34 rec.
| |__congenital disorder of deglycosylation 2
| |__congenital disorder of glycosylation Ia 2 rec.
| |__congenital disorder of glycosylation Iaa 1 rec.
| |__congenital disorder of glycosylation Ib 1 rec.
| |__congenital disorder of glycosylation Ic 1 rec.
| |__congenital disorder of glycosylation Id 1 rec.
| |__congenital disorder of glycosylation Ie 1 rec.
| |__congenital disorder of glycosylation If 1 rec.
| |__congenital disorder of glycosylation Ig 1 rec.
| |__congenital disorder of glycosylation Ih 1 rec.
| |__congenital disorder of glycosylation Ii 1 rec.
| |__congenital disorder of glycosylation Ij 33 rec.
| |__congenital disorder of glycosylation Ik 1 rec.
| |__congenital disorder of glycosylation Il 1 rec.
| |__congenital disorder of glycosylation Im 1 rec.
| |__congenital disorder of glycosylation In 1 rec.
| |__congenital disorder of glycosylation Ip 1 rec.
| |__congenital disorder of glycosylation Iq 1 rec.
| |__congenital disorder of glycosylation Ir 1 rec.
| |__congenital disorder of glycosylation It 1 rec.
| |__congenital disorder of glycosylation Iu 1 rec.
| |__congenital disorder of glycosylation Iw 1 rec.
| |__congenital disorder of glycosylation Ix 1 rec.
| |__congenital disorder of glycosylation type IIa 1 rec.
| |__congenital disorder of glycosylation type IIb 1 rec.
| |__congenital disorder of glycosylation type IIbb 1 rec.
| |__congenital disorder of glycosylation type IIc 3 rec.
| |__congenital disorder of glycosylation type IId 2 rec.
| |__congenital disorder of glycosylation type IIe 4 rec.
| |__congenital disorder of glycosylation type IIf 1 rec.
| |__congenital disorder of glycosylation type IIg 1 rec.
| |__congenital disorder of glycosylation type IIh 1 rec.
| |__congenital disorder of glycosylation type IIi 1 rec.
| |__congenital disorder of glycosylation type IIj 1 rec.
| |__congenital disorder of glycosylation type IIk 1 rec.
| |__congenital disorder of glycosylation type IIl 1 rec.
| |__congenital disorder of glycosylation type IIn 1 rec.
| |__congenital disorder of glycosylation type IIo 1 rec.
| |__congenital disorder of glycosylation type IIp 1 rec.
| |__congenital disorder of glycosylation type IIq 1 rec.
| |__congenital disorder of glycosylation type IIt 1 rec.
| |__congenital disorder of glycosylation type IIv 1 rec.
| |__congenital disorder of glycosylation type IIy 1 rec.
| |__congenital disorder of glycosylation type IIz
| |__congenital dyserythropoietic anemia type Ia 1 rec.
| |__congenital dyserythropoietic anemia type Ib 1 rec.
| |__congenital dyserythropoietic anemia type II 1 rec.
| |__congenital dyserythropoietic anemia type IIIb 2 rec.
| |__congenital fibrosis of the extraocular muscles 2 2 rec.
| |__congenital fibrosis of the extraocular muscles 5
| |__congenital generalized lipodystrophy(+) 22 rec.
| |__congenital glutamine deficiency 2 rec.
| |__congenital heart defects, hamartomas of tongue, and polysyndactyly 1 rec.
| |__congenital hereditary endothelial dystrophy of cornea 2 rec.
| |__congenital hypotrichosis with juvenile macular dystrophy
| |__congenital lactase deficiency 1 rec.
| |__congenital leptin deficiency 5 rec.
| |__congenital malabsorptive diarrhea 4 1 rec.
| |__congenital merosin-deficient muscular dystrophy 1A 1 rec.
| |__congenital muscular dystrophy 1B
| |__congenital muscular dystrophy due to integrin alpha-7 deficiency 1 rec.
| |__congenital muscular dystrophy with cataracts and intellectual disability 2 rec.
| |__congenital muscular dystrophy-dystroglycanopathy type A(+) 16 rec.
| |__congenital myasthenic syndrome 1B 7 rec.
| |__congenital myasthenic syndrome 2C
| |__congenital myasthenic syndrome 3B 1 rec.
| |__congenital myasthenic syndrome 3C 1 rec.
| |__congenital myasthenic syndrome 4A
| |__congenital myasthenic syndrome 4B
| |__congenital myasthenic syndrome 4C
| |__congenital myasthenic syndrome 5
| |__congenital myasthenic syndrome 6 1 rec.
| |__congenital myasthenic syndrome 8 1 rec.
| |__congenital myasthenic syndrome 9 1 rec.
| |__congenital myasthenic syndrome 10
| |__congenital myasthenic syndrome 11 1 rec.
| |__congenital myasthenic syndrome 12 2 rec.
| |__congenital myasthenic syndrome 13 1 rec.
| |__congenital myasthenic syndrome 14 1 rec.
| |__congenital myasthenic syndrome 15 1 rec.
| |__congenital myasthenic syndrome 16 1 rec.
| |__congenital myasthenic syndrome 17 2 rec.
| |__congenital myasthenic syndrome 19 1 rec.
| |__congenital myasthenic syndrome 20 1 rec.
| |__congenital myasthenic syndrome 21 1 rec.
| |__congenital myasthenic syndrome 22 1 rec.
| |__congenital myopathy 1A 1 rec.
| |__congenital myopathy 2B 6 rec.
| |__congenital myopathy 5 3 rec.
| |__congenital myopathy 6 5 rec.
| |__congenital myopathy 9A 1 rec.
| |__congenital myopathy 9B 1 rec.
| |__congenital myopathy 10B 1 rec.
| |__congenital myopathy 13 1 rec.
| |__congenital myopathy 14 4 rec.
| |__congenital myopathy 17 1 rec.
| |__congenital myopathy 18 1 rec.
| |__congenital myopathy 19 5 rec.
| |__congenital myopathy 20 1 rec.
| |__congenital myopathy 21 2 rec.
| |__congenital myopathy 22A 1 rec.
| |__congenital myopathy 22B 1 rec.
| |__congenital nongoitrous hypothyroidism 1 1 rec.
| |__congenital nongoitrous hypothyroidism 4 1 rec.
| |__congenital nongoitrous hypothyroidism 7 1 rec.
| |__congenital nonspherocytic hemolytic anemia 2 5 rec.
| |__congenital nonspherocytic hemolytic anemia 3 1 rec.
| |__congenital nonspherocytic hemolytic anemia 4 1 rec.
| |__congenital nonspherocytic hemolytic anemia 5 1 rec.
| |__congenital nonspherocytic hemolytic anemia 6 2 rec.
| |__congenital nonspherocytic hemolytic anemia 7 1 rec.
| |__congenital nonspherocytic hemolytic anemia 8 1 rec.
| |__congenital secretory chloride diarrhea 1 1 rec.
| |__congenital secretory sodium diarrhea 3 1 rec.
| |__congenital secretory sodium diarrhea 8 1 rec.
| |__congenital stationary night blindness 1B 4 rec.
| |__congenital stationary night blindness 1C 1 rec.
| |__congenital stationary night blindness 1D 1 rec.
| |__congenital stationary night blindness 1E 3 rec.
| |__congenital stationary night blindness 1F 1 rec.
| |__congenital stationary night blindness 1G 1 rec.
| |__congenital stationary night blindness 1H 2 rec.
| |__congenital sucrase-isomaltase deficiency 1 rec.
| |__contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 1 rec.
| |__corneal dystrophy-perceptive deafness syndrome 2 rec.
| |__cortical dysplasia-focal epilepsy syndrome 3 rec.
| |__corticosterone methyloxidase deficiency 1 12 rec.
| |__cortisone reductase deficiency 1 2 rec.
| |__cranioectodermal dysplasia(+) 4 rec.
| |__craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 1 rec.
| |__craniolenticulosutural dysplasia 1 rec.
| |__craniotubular dysplasia Ikegawa type 2 rec.
| |__cystathioninuria 1 rec.
| |__cystic fibrosis 28 rec.
| |__cystinosis 1 rec.
| |__cytochrome P450 oxidoreductase deficiency 1 rec.
| |__D-2-hydroxyglutaric aciduria 1 1 rec.
| |__D-glyceric aciduria 1 rec.
| |__desmosterolosis
| |__developmental and epileptic encephalopathy 3 2 rec.
| |__developmental and epileptic encephalopathy 12 1 rec.
| |__developmental and epileptic encephalopathy 15
| |__developmental and epileptic encephalopathy 16 1 rec.
| |__developmental and epileptic encephalopathy 18
| |__developmental and epileptic encephalopathy 21 1 rec.
| |__developmental and epileptic encephalopathy 23 1 rec.
| |__developmental and epileptic encephalopathy 25 5 rec.
| |__developmental and epileptic encephalopathy 28 1 rec.
| |__developmental and epileptic encephalopathy 29 2 rec.
| |__developmental and epileptic encephalopathy 31B 1 rec.
| |__developmental and epileptic encephalopathy 34 2 rec.
| |__developmental and epileptic encephalopathy 35 1 rec.
| |__developmental and epileptic encephalopathy 37 1 rec.
| |__developmental and epileptic encephalopathy 38 1 rec.
| |__developmental and epileptic encephalopathy 39 1 rec.
| |__developmental and epileptic encephalopathy 40 1 rec.
| |__developmental and epileptic encephalopathy 44 19 rec.
| |__developmental and epileptic encephalopathy 48 1 rec.
| |__developmental and epileptic encephalopathy 49 1 rec.
| |__developmental and epileptic encephalopathy 50 1 rec.
| |__developmental and epileptic encephalopathy 51 3 rec.
| |__developmental and epileptic encephalopathy 52
| |__developmental and epileptic encephalopathy 53 1 rec.
| |__developmental and epileptic encephalopathy 55 1 rec.
| |__developmental and epileptic encephalopathy 60 1 rec.
| |__developmental and epileptic encephalopathy 61 1 rec.
| |__developmental and epileptic encephalopathy 63 1 rec.
| |__developmental and epileptic encephalopathy 68 1 rec.
| |__developmental and epileptic encephalopathy 71 2 rec.
| |__developmental and epileptic encephalopathy 75 1 rec.
| |__developmental and epileptic encephalopathy 76 1 rec.
| |__developmental and epileptic encephalopathy 80 1 rec.
| |__developmental and epileptic encephalopathy 81 1 rec.
| |__developmental and epileptic encephalopathy 82 1 rec.
| |__developmental and epileptic encephalopathy 83 1 rec.
| |__developmental and epileptic encephalopathy 84 1 rec.
| |__developmental and epileptic encephalopathy 86 1 rec.
| |__developmental and epileptic encephalopathy 88 1 rec.
| |__developmental and epileptic encephalopathy 89 2 rec.
| |__developmental and epileptic encephalopathy 95 1 rec.
| |__developmental and epileptic encephalopathy 101 1 rec.
| |__developmental and epileptic encephalopathy 102 1 rec.
| |__developmental and epileptic encephalopathy 105 1 rec.
| |__developmental and epileptic encephalopathy 106 1 rec.
| |__developmental and epileptic encephalopathy 107 1 rec.
| |__developmental and epileptic encephalopathy 110 1 rec.
| |__diastrophic dysplasia 1 rec.
| |__dicarboxylic aminoaciduria 1 rec.
| |__dihydropyrimidinase deficiency 2 rec.
| |__dilated cardiomyopathy 1X
| |__dilated cardiomyopathy 2A 2 rec.
| |__dilated cardiomyopathy 2B 1 rec.
| |__dilated cardiomyopathy 2C 2 rec.
| |__dilated cardiomyopathy 2D 1 rec.
| |__dilated cardiomyopathy 2E 1 rec.
| |__dilated cardiomyopathy 2F 1 rec.
| |__dilated cardiomyopathy 2G 1 rec.
| |__dimethylglycine dehydrogenase deficiency 2 rec.
| |__diphthamide deficiency syndrome(+) 3 rec.
| |__distal arthrogryposis type 5D 15 rec.
| |__distal myopathy with anterior tibial onset 1 rec.
| |__DNA ligase IV deficiency 1 rec.
| |__Donnai-Barrow syndrome 1 rec.
| |__Donohue syndrome 4 rec.
| |__DOORS syndrome 8 rec.
| |__dopa-responsive dystonia 1 rec.
| |__Dubowitz syndrome
| |__Dyggve-Melchior-Clausen disease(+) 3 rec.
| |__dystonia 16 2 rec.
| |__dystonia 22, adult-onset 1 rec.
| |__dystonia 22, juvenile-onset 1 rec.
| |__dystonia 27
| |__dystonia 31 6 rec.
| |__dystonia 32 1 rec.
| |__dystonia 33 1 rec.
| |__dystonia 35, childhood-onset 1 rec.
| |__dystonia 37, early-onset with striatal lesions 1 rec.
| |__early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 2 rec.
| |__EAST syndrome 11 rec.
| |__ectodermal dysplasia 4
| |__ectodermal dysplasia 5
| |__ectodermal dysplasia 6
| |__ectodermal dysplasia 7
| |__ectodermal dysplasia 8
| |__ectodermal dysplasia 9
| |__ectodermal dysplasia 10B
| |__ectodermal dysplasia 11B
| |__ectodermal dysplasia 13
| |__ectodermal dysplasia 14 1 rec.
| |__ectodermal dysplasia 15 3 rec.
| |__ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
| |__ectopia lentis with ectopia of pupil 1 rec.
| |__Ehlers-Danlos syndrome cardiac valvular type
| |__Ehlers-Danlos syndrome classic-like 1 6 rec.
| |__Ehlers-Danlos syndrome classic-like 2 1 rec.
| |__Ehlers-Danlos syndrome dermatosparaxis type 1 rec.
| |__Ehlers-Danlos syndrome kyphoscoliotic type 1 1 rec.
| |__Ehlers-Danlos syndrome kyphoscoliotic type 2 1 rec.
| |__Ehlers-Danlos syndrome musculocontractural type 1 2 rec.
| |__Ehlers-Danlos syndrome musculocontractural type 2
| |__Ehlers-Danlos syndrome spondylodysplastic type 1 2 rec.
| |__Ehlers-Danlos syndrome spondylodysplastic type 2 1 rec.
| |__Eiken syndrome 1 rec.
| |__Ellis-Van Creveld syndrome
| |__encephalopathy due to defective mitochondrial and peroxisomal fission 2 1 rec.
| |__endocrine-cerebro-osteodysplasia syndrome 1 rec.
| |__enhanced S-cone syndrome 1 rec.
| |__enterokinase deficiency 1 rec.
| |__epidermodysplasia verruciformis
| |__epidermolysis bullosa simplex with muscular dystrophy 1 rec.
| |__erythrokeratodermia variabilis et progressiva 1 2 rec.
| |__erythrokeratodermia variabilis et progressiva 4 1 rec.
| |__erythrokeratodermia variabilis et progressiva 5
| |__essential fructosuria 4 rec.
| |__factor V deficiency
| |__factor VII deficiency 1 rec.
| |__factor X deficiency 6 rec.
| |__factor XII deficiency 1 rec.
| |__factor XIII deficiency 1 rec.
| |__familial adenomatous polyposis 2
| |__familial adenomatous polyposis 3 1 rec.
| |__familial adenomatous polyposis 4 1 rec.
| |__familial adult myoclonic epilepsy 5 1 rec.
| |__familial apolipoprotein C-II deficiency
| |__familial benign fleck retina 1 rec.
| |__familial erythrocytosis 2 1 rec.
| |__familial GPIHBP1 deficiency
| |__familial hemophagocytic lymphohistiocytosis 1
| |__familial hemophagocytic lymphohistiocytosis 2
| |__familial hemophagocytic lymphohistiocytosis 3 1 rec.
| |__familial hemophagocytic lymphohistiocytosis 4 1 rec.
| |__familial hepatic adenoma
| |__familial hypercholanemia 1 1 rec.
| |__familial hypercholanemia 2 1 rec.
| |__familial hypercholanemia 3
| |__familial hyperinsulinemic hypoglycemia 1 11 rec.
| |__familial hyperinsulinemic hypoglycemia 2 2 rec.
| |__familial hyperinsulinemic hypoglycemia 4
| |__familial hyperinsulinemic hypoglycemia 8 1 rec.
| |__familial hypertryptophanemia 1 rec.
| |__familial isolated hypoparathyroidism 1
| |__familial isolated hypoparathyroidism 2 2 rec.
| |__familial isolated trichomegaly 1 rec.
| |__familial lipase maturation factor 1 deficiency
| |__familial lipoprotein lipase deficiency 17 rec.
| |__familial partial lipodystrophy type 5 2 rec.
| |__familial partial lipodystrophy type 6 1 rec.
| |__familial renal glucosuria 4 rec.
| |__familial restrictive cardiomyopathy 6 1 rec.
| |__familial temporal lobe epilepsy 5 9 rec.
| |__Fanconi anemia complementation group A
| |__Fanconi anemia complementation group C
| |__Fanconi anemia complementation group D1 1 rec.
| |__Fanconi anemia complementation group D2 6 rec.
| |__Fanconi anemia complementation group E
| |__Fanconi anemia complementation group I 1 rec.
| |__Fanconi anemia complementation group L 2 rec.
| |__Fanconi anemia complementation group O 1 rec.
| |__Fanconi anemia complementation group P 1 rec.
| |__Fanconi anemia complementation group Q 1 rec.
| |__Fanconi anemia complementation group S
| |__Fanconi anemia complementation group T
| |__Fanconi anemia complementation group U 1 rec.
| |__Fanconi anemia complementation group V 1 rec.
| |__Fanconi anemia complementation group W 6 rec.
| |__Fanconi renotubular syndrome 2
| |__Fanconi renotubular syndrome 5 1 rec.
| |__Fanconi-Bickel syndrome 5 rec.
| |__Fazio-Londe disease 1 rec.
| |__fetal akinesia deformation sequence syndrome 1 1 rec.
| |__fetal akinesia deformation sequence syndrome 2 1 rec.
| |__fetal akinesia deformation sequence syndrome 3
| |__fetal akinesia deformation sequence syndrome 4 1 rec.
| |__fetal encasement syndrome 1 rec.
| |__fibrochondrogenesis 1 1 rec.
| |__fibrochondrogenesis 2
| |__fibular hypoplasia and complex brachydactyly
| |__Filippi syndrome
| |__focal segmental glomerulosclerosis 6 2 rec.
| |__focal segmental glomerulosclerosis 9 1 rec.
| |__foveal hypoplasia 2 1 rec.
| |__Frank-Ter Haar syndrome
| |__Fraser syndrome(+) 4 rec.
| |__frontonasal dysplasia 1 1 rec.
| |__frontonasal dysplasia 2 1 rec.
| |__frontonasal dysplasia 3 2 rec.
| |__Fuhrmann syndrome 1 rec.
| |__fumarase deficiency 4 rec.
| |__galactose epimerase deficiency 2 rec.
| |__Galloway-Mowat syndrome 1
| |__Galloway-Mowat syndrome 3 15 rec.
| |__Galloway-Mowat syndrome 4 1 rec.
| |__gamma-glutamyl transpeptidase deficiency 4 rec.
| |__gangliosidosis(+) 5 rec.
| |__GAPO syndrome
| |__Gaucher's disease type III(+) 2 rec.
| |__gelatinous drop-like corneal dystrophy
| |__geleophysic dysplasia 1
| |__geroderma osteodysplasticum 2 rec.
| |__Ghosal hematodiaphyseal syndrome 13 rec.
| |__giant axonal neuropathy 1
| |__Gitelman syndrome 2 rec.
| |__glucocorticoid deficiency 1
| |__glucose-galactose malabsorption 4 rec.
| |__glutamate formiminotransferase deficiency
| |__glutaric acidemia I 1 rec.
| |__glutaric acidemia type 3 1 rec.
| |__glutatione synthetase deficiency with 5-oxoprolinuria 2 rec.
| |__glycine encephalopathy(+) 3 rec.
| |__glycogen storage disease Ia 1 rec.
| |__glycogen storage disease Ib 1 rec.
| |__glycogen storage disease Ic 1 rec.
| |__glycogen storage disease II 1 rec.
| |__glycogen storage disease III 2 rec.
| |__glycogen storage disease IV 1 rec.
| |__glycogen storage disease IXc 1 rec.
| |__glycogen storage disease V 1 rec.
| |__glycogen storage disease VI 1 rec.
| |__glycogen storage disease VII 1 rec.
| |__glycogen storage disease XV 1 rec.
| |__GNE myopathy
| |__Goldberg-Shprintzen syndrome 1 rec.
| |__Gordon Holmes syndrome 5 rec.
| |__GRACILE syndrome 1 rec.
| |__gray platelet syndrome 1 rec.
| |__Greenberg dysplasia 1 rec.
| |__Griscelli syndrome(+) 3 rec.
| |__growth hormone insensitivity syndrome with immune dysregulation 1 1 rec.
| |__Halperin-Birk syndrome 3 rec.
| |__Harel-Yoon syndrome 11 rec.
| |__Heimler syndrome 1 1 rec.
| |__Heimler syndrome 2 1 rec.
| |__Hengel-Maroofian-Schols syndrome 4 rec.
| |__hepatic venoocclusive disease with immunodeficiency
| |__hereditary angioedema type I 1 rec.
| |__hereditary arterial and articular multiple calcification syndrome 5 rec.
| |__hereditary folate malabsorption 6 rec.
| |__hereditary pyropoikilocytosis 1 rec.
| |__hereditary sensory and autonomic neuropathy type 2A 1 rec.
| |__hereditary sensory and autonomic neuropathy type 2B
| |__hereditary sensory and autonomic neuropathy type 5
| |__hereditary sensory and autonomic neuropathy type 6 1 rec.
| |__hereditary sensory and autonomic neuropathy type 8 2 rec.
| |__hereditary sensory neuropathy type 2C 2 rec.
| |__hereditary sensory neuropathy type 4
| |__hereditary spastic paraplegia 5A
| |__hereditary spastic paraplegia 7 3 rec.
| |__hereditary spastic paraplegia 9B 1 rec.
| |__hereditary spastic paraplegia 11 1 rec.
| |__hereditary spastic paraplegia 14
| |__hereditary spastic paraplegia 15 3 rec.
| |__hereditary spastic paraplegia 18B
| |__hereditary spastic paraplegia 23
| |__hereditary spastic paraplegia 24
| |__hereditary spastic paraplegia 25
| |__hereditary spastic paraplegia 26
| |__hereditary spastic paraplegia 27
| |__hereditary spastic paraplegia 28
| |__hereditary spastic paraplegia 30B 1 rec.
| |__hereditary spastic paraplegia 32
| |__hereditary spastic paraplegia 35 6 rec.
| |__hereditary spastic paraplegia 39 2 rec.
| |__hereditary spastic paraplegia 43 3 rec.
| |__hereditary spastic paraplegia 44
| |__hereditary spastic paraplegia 45 1 rec.
| |__hereditary spastic paraplegia 46 1 rec.
| |__hereditary spastic paraplegia 47 2 rec.
| |__hereditary spastic paraplegia 48
| |__hereditary spastic paraplegia 49 1 rec.
| |__hereditary spastic paraplegia 50
| |__hereditary spastic paraplegia 51 1 rec.
| |__hereditary spastic paraplegia 52 2 rec.
| |__hereditary spastic paraplegia 53 1 rec.
| |__hereditary spastic paraplegia 54 1 rec.
| |__hereditary spastic paraplegia 55 1 rec.
| |__hereditary spastic paraplegia 56 3 rec.
| |__hereditary spastic paraplegia 57
| |__hereditary spastic paraplegia 61 11 rec.
| |__hereditary spastic paraplegia 62
| |__hereditary spastic paraplegia 63 1 rec.
| |__hereditary spastic paraplegia 64 1 rec.
| |__hereditary spastic paraplegia 70 1 rec.
| |__hereditary spastic paraplegia 72B 1 rec.
| |__hereditary spastic paraplegia 74 1 rec.
| |__hereditary spastic paraplegia 75
| |__hereditary spastic paraplegia 76 5 rec.
| |__hereditary spastic paraplegia 77 4 rec.
| |__hereditary spastic paraplegia 78 2 rec.
| |__hereditary spastic paraplegia 79B 1 rec.
| |__hereditary spastic paraplegia 81 2 rec.
| |__hereditary spastic paraplegia 82 1 rec.
| |__hereditary spastic paraplegia 83 1 rec.
| |__hereditary spastic paraplegia 84 1 rec.
| |__hereditary spastic paraplegia 85
| |__hereditary spastic paraplegia 86 1 rec.
| |__hereditary spastic paraplegia 87 1 rec.
| |__hereditary spastic paraplegia 89 3 rec.
| |__hereditary spastic paraplegia 92 2 rec.
| |__hereditary spastic paraplegia 93 3 rec.
| |__hereditary spherocytosis type 1 1 rec.
| |__hereditary spherocytosis type 3 1 rec.
| |__hereditary spherocytosis type 5 1 rec.
| |__Hermansky-Pudlak syndrome(+) 35 rec.
| |__high molecular weight kininogen deficiency
| |__high myopia-sensorineural deafness syndrome 1 rec.
| |__histiocytosis-lymphadenopathy plus syndrome 3 rec.
| |__HMG-CoA synthase 2 deficiency 1 rec.
| |__homocystinuria-megaloblastic anemia cblE type 1 rec.
| |__homocystinuria-megaloblastic anemia cblG type 2 rec.
| |__hyaline fibromatosis syndrome
| |__hydrolethalus syndrome(+) 5 rec.
| |__hydroxykynureninuria
| |__hyper IgE recurrent infection syndrome 2 1 rec.
| |__hyper IgE recurrent infection syndrome 3 1 rec.
| |__hyper IgE recurrent infection syndrome 4
| |__hyperekplexia 1 8 rec.
| |__hyperekplexia 2 7 rec.
| |__hyperekplexia 3 8 rec.
| |__hyperekplexia 4 2 rec.
| |__hyperphosphatemic familial tumoral calcinosis 2 rec.
| |__hyperprolinemia type 1 2 rec.
| |__hyperprolinemia type 2 5 rec.
| |__hypertelorism, microtia, facial clefting syndrome
| |__hypertrophic cardiomyopathy 27
| |__hypervalinemia and hyperleucine-isoleucinemia 2 rec.
| |__hypogonadotropic hypogonadism 7 with or without anosmia 2 rec.
| |__hypogonadotropic hypogonadism 8 with or without anosmia 1 rec.
| |__hypogonadotropic hypogonadism 10 with or without anosmia
| |__hypogonadotropic hypogonadism 11 with or without anosmia 3 rec.
| |__hypogonadotropic hypogonadism 12 with or without anosmia
| |__hypogonadotropic hypogonadism 13 with or without anosmia
| |__hypogonadotropic hypogonadism 18 with or without anosmia
| |__hypogonadotropic hypogonadism 22 with or without anosmia 1 rec.
| |__hypogonadotropic hypogonadism 23 with or without anosmia 1 rec.
| |__hypogonadotropic hypogonadism 24 without anosmia 1 rec.
| |__hypomyelinating leukodystrophy 2
| |__hypomyelinating leukodystrophy 3 1 rec.
| |__hypomyelinating leukodystrophy 4 4 rec.
| |__hypomyelinating leukodystrophy 5 7 rec.
| |__hypomyelinating leukodystrophy 7 1 rec.
| |__hypomyelinating leukodystrophy 8 1 rec.
| |__hypomyelinating leukodystrophy 9 1 rec.
| |__hypomyelinating leukodystrophy 10 1 rec.
| |__hypomyelinating leukodystrophy 11 1 rec.
| |__hypomyelinating leukodystrophy 12 1 rec.
| |__hypomyelinating leukodystrophy 13 1 rec.
| |__hypomyelinating leukodystrophy 14 1 rec.
| |__hypomyelinating leukodystrophy 15 1 rec.
| |__hypomyelinating leukodystrophy 17 1 rec.
| |__hypomyelinating leukodystrophy 18 3 rec.
| |__hypomyelinating leukodystrophy 20
| |__hypomyelinating leukodystrophy 21 1 rec.
| |__hypomyelinating leukodystrophy 23 4 rec.
| |__hypomyelinating leukodystrophy 26 1 rec.
| |__hypoparathyroidism-retardation-dysmorphism syndrome 10 rec.
| |__hypotrichosis 6
| |__hypotrichosis 7 22 rec.
| |__hypotrichosis 8
| |__hypotrichosis 9
| |__hypotrichosis 10
| |__hypotrichosis 15
| |__hypotrichosis-lymphedema-telangiectasia syndrome 1 rec.
| |__immunodeficiency 7
| |__immunodeficiency 9 1 rec.
| |__immunodeficiency 10 1 rec.
| |__immunodeficiency 11A
| |__immunodeficiency 12
| |__immunodeficiency 15B 1 rec.
| |__immunodeficiency 16
| |__immunodeficiency 17
| |__immunodeficiency 18
| |__immunodeficiency 19
| |__immunodeficiency 20
| |__immunodeficiency 22 1 rec.
| |__immunodeficiency 23 1 rec.
| |__immunodeficiency 24 1 rec.
| |__immunodeficiency 25
| |__immunodeficiency 26 1 rec.
| |__immunodeficiency 27A
| |__immunodeficiency 28
| |__immunodeficiency 29
| |__immunodeficiency 30
| |__immunodeficiency 31B 1 rec.
| |__immunodeficiency 32B
| |__immunodeficiency 35 1 rec.
| |__immunodeficiency 37
| |__immunodeficiency 38
| |__immunodeficiency 40 1 rec.
| |__immunodeficiency 41
| |__immunodeficiency 42 1 rec.
| |__immunodeficiency 43
| |__immunodeficiency 44 1 rec.
| |__immunodeficiency 45
| |__immunodeficiency 46
| |__immunodeficiency 48 1 rec.
| |__immunodeficiency 51
| |__immunodeficiency 52
| |__immunodeficiency 53 1 rec.
| |__immunodeficiency 54 1 rec.
| |__immunodeficiency 55 2 rec.
| |__immunodeficiency 56
| |__immunodeficiency 57 1 rec.
| |__immunodeficiency 58 1 rec.
| |__immunodeficiency 59 1 rec.
| |__immunodeficiency 61 1 rec.
| |__immunodeficiency 62 1 rec.
| |__immunodeficiency 63
| |__immunodeficiency 64
| |__immunodeficiency 65
| |__immunodeficiency 66 1 rec.
| |__immunodeficiency 69
| |__immunodeficiency 71 1 rec.
| |__immunodeficiency 72 1 rec.
| |__immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 3 rec.
| |__immunodeficiency 79
| |__immunodeficiency 80 1 rec.
| |__immunodeficiency 81
| |__immunodeficiency 86
| |__immunodeficiency 87
| |__immunodeficiency 88 3 rec.
| |__immunodeficiency 89
| |__immunodeficiency 90 1 rec.
| |__immunodeficiency 91 1 rec.
| |__immunodeficiency 92 2 rec.
| |__immunodeficiency 93 1 rec.
| |__immunodeficiency 95
| |__immunodeficiency 96 1 rec.
| |__immunodeficiency 97 1 rec.
| |__immunodeficiency 99 1 rec.
| |__immunodeficiency 106
| |__immunodeficiency 108 1 rec.
| |__immunodeficiency 109
| |__immunodeficiency 112
| |__immunodeficiency 113 1 rec.
| |__immunodeficiency 114 3 rec.
| |__immunodeficiency 115 1 rec.
| |__immunodeficiency 116
| |__immunodeficiency 117
| |__immunodeficiency 119 2 rec.
| |__immunodeficiency 120 1 rec.
| |__immunodeficiency 122
| |__immunodeficiency 123
| |__immunodeficiency 125
| |__immunodeficiency 127
| |__immunodeficiency 128 1 rec.
| |__immunodeficiency 129 3 rec.
| |__immunodeficiency 130 with HPV-related verrucosis
| |__immunodeficiency with hyper IgM type 3
| |__immunodeficiency with hyper IgM type 5
| |__immunodeficiency with hyper-IgM type 2
| |__immunodeficiency-centromeric instability-facial anomalies syndrome(+) 2 rec.
| |__immunoglobulin alpha deficiency
| |__infantile cerebellar-retinal degeneration 4 rec.
| |__infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 1 rec.
| |__infantile hypercalcemia 1 11 rec.
| |__infantile hypercalcemia 2
| |__infantile liver failure syndrome 1 1 rec.
| |__infantile onset multisystem autoimmune disease 2 1 rec.
| |__infantile onset multisystem autoimmune disease 3 1 rec.
| |__infantile onset multisystem autoimmune disease 4
| |__infantile onset multisystem autoimmune disease 5
| |__infantile parkinsonism-dystonia 2 1 rec.
| |__infantile-onset myofibrillar myopathy 12 with cardiomyopathy 3 rec.
| |__infantile-onset myofibrillar myopathy-2B 2 rec.
| |__inflammatory bowel disease 25
| |__inflammatory bowel disease 28
| |__inflammatory poikiloderma with hair abnormalities and acral keratoses 1 rec.
| |__intellectual developmental disorder with cardiac arrhythmia 1 rec.
| |__intellectual developmental disorder with short stature and behavioral abnormalities 7 rec.
| |__intermediate spinal muscular atrophy 5 rec.
| |__interstitial lung disease 1
| |__isolated hyperchlorhidrosis 7 rec.
| |__isolated microphthalmia 1
| |__isolated microphthalmia 2 2 rec.
| |__isolated microphthalmia 3 1 rec.
| |__isolated microphthalmia 5
| |__isolated microphthalmia 6 10 rec.
| |__isolated microphthalmia 8 2 rec.
| |__isolated sulfite oxidase deficiency 3 rec.
| |__Jackson-Weiss syndrome 2 rec.
| |__Jalili syndrome 1 rec.
| |__Johanson-Blizzard syndrome 1 rec.
| |__junctional epidermolysis bullosa Herlitz type 1 rec.
| |__junctional epidermolysis bullosa non-Herlitz type 1 rec.
| |__junctional epidermolysis bullosa with pyloric atresia 1 rec.
| |__Kahrizi syndrome 1 rec.
| |__karyomegalic interstitial nephritis
| |__Kaufman oculocerebrofacial syndrome 1 rec.
| |__Kenny-Caffey syndrome type 1 1 rec.
| |__keratosis pilaris atrophicans(+) 3 rec.
| |__Klippel-Feil syndrome 2 1 rec.
| |__Klippel-Feil syndrome 4 1 rec.
| |__Kohlschutter-Tonz syndrome 18 rec.
| |__Kufor-Rakeb syndrome 12 rec.
| |__kyphomelic dysplasia 1 rec.
| |__Lafora disease 4 rec.
| |__Laron syndrome
| |__Larsen-like syndrome B3GAT3 type 3 rec.
| |__late-adult onset retinitis pigmentosa
| |__Laurence-Moon syndrome 1 rec.
| |__Leber congenital amaurosis 1 3 rec.
| |__Leber congenital amaurosis 2 1 rec.
| |__Leber congenital amaurosis 4 1 rec.
| |__Leber congenital amaurosis 5 1 rec.
| |__Leber congenital amaurosis 6
| |__Leber congenital amaurosis 8 3 rec.
| |__Leber congenital amaurosis 9 1 rec.
| |__Leber congenital amaurosis 12
| |__Leber congenital amaurosis 13 8 rec.
| |__Leber congenital amaurosis 14
| |__Leber congenital amaurosis 15 1 rec.
| |__Leber congenital amaurosis 16 2 rec.
| |__Leber congenital amaurosis 17
| |__lethal congenital contracture syndrome(+) 4 rec.
| |__leukocyte adhesion deficiency(+) 3 rec.
| |__leukoencephalopathy with vanishing white matter(+) 5 rec.
| |__Leydig cell hypoplasia(+) 1 rec.
| |__lissencephaly 4 1 rec.
| |__lissencephaly 5 1 rec.
| |__lissencephaly 6 2 rec.
| |__lissencephaly 7 with cerebellar hypoplasia 1 rec.
| |__lissencephaly 8 2 rec.
| |__long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 rec.
| |__lymphoproliferative syndrome 1 1 rec.
| |__lymphoproliferative syndrome 2
| |__lysosomal acid lipase deficiency(+) 21 rec.
| |__Mahvash Disease 1 rec.
| |__mal de Meleda
| |__mandibuloacral dysplasia type B lipodystrophy 4 rec.
| |__Marinesco-Sjogren syndrome 1 rec.
| |__Martsolf syndrome 1 rec.
| |__McKusick-Kaufman syndrome
| |__Meckel syndrome 13
| |__megaconial type congenital muscular dystrophy 1 rec.
| |__megalencephalic leukoencephalopathy with subcortical cysts 1
| |__megalencephalic leukoencephalopathy with subcortical cysts 2A
| |__Meier-Gorlin syndrome 1 1 rec.
| |__Meier-Gorlin syndrome 2 3 rec.
| |__Meier-Gorlin syndrome 3 10 rec.
| |__Meier-Gorlin syndrome 4 1 rec.
| |__Meier-Gorlin syndrome 5 1 rec.
| |__Meier-Gorlin syndrome 7 1 rec.
| |__Meier-Gorlin syndrome 8 1 rec.
| |__methemoglobinemia and ambiguous genitalia 2 rec.
| |__microcephalic osteodysplastic primordial dwarfism type I
| |__microcephalic osteodysplastic primordial dwarfism type II 1 rec.
| |__microcephaly and chorioretinopathy 1 1 rec.
| |__microcephaly and chorioretinopathy 2 1 rec.
| |__microcephaly and chorioretinopathy 3 1 rec.
| |__microcephaly, seizures, and developmental delay 1 rec.
| |__microcephaly, short stature, and limb abnormalities 2 rec.
| |__microphthalmia with limb anomalies 1 rec.
| |__microvillus inclusion disease 2 rec.
| |__mirror movements 3 1 rec.
| |__mismatch repair cancer syndrome 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 1 8 rec.
| |__mitochondrial complex IV deficiency nuclear type 2 2 rec.
| |__mitochondrial complex IV deficiency nuclear type 3 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 4 3 rec.
| |__mitochondrial complex IV deficiency nuclear type 6 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 7 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 8 2 rec.
| |__mitochondrial complex IV deficiency nuclear type 9 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 10
| |__mitochondrial complex IV deficiency nuclear type 11 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 12 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 13 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 14 2 rec.
| |__mitochondrial complex IV deficiency nuclear type 15 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 16 2 rec.
| |__mitochondrial complex IV deficiency nuclear type 17 3 rec.
| |__mitochondrial complex IV deficiency nuclear type 18 3 rec.
| |__mitochondrial complex IV deficiency nuclear type 19 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 20 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 21 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 22 1 rec.
| |__mitochondrial complex IV deficiency nuclear type 23 1 rec.
| |__mitochondrial complex V (ATP synthase) deficiency nuclear type 4B 1 rec.
| |__mitochondrial complex V (ATP synthase) deficiency nuclear type 5 7 rec.
| |__mitochondrial complex V (ATP synthase) deficiency nuclear type 7 1 rec.
| |__mitochondrial DNA depletion syndrome 1
| |__mitochondrial DNA depletion syndrome 2 1 rec.
| |__mitochondrial DNA depletion syndrome 3 1 rec.
| |__mitochondrial DNA depletion syndrome 4b 2 rec.
| |__mitochondrial DNA depletion syndrome 5 1 rec.
| |__mitochondrial DNA depletion syndrome 6 4 rec.
| |__mitochondrial DNA depletion syndrome 7 1 rec.
| |__mitochondrial DNA depletion syndrome 8a 1 rec.
| |__mitochondrial DNA depletion syndrome 8b 1 rec.
| |__mitochondrial DNA depletion syndrome 9 3 rec.
| |__mitochondrial DNA depletion syndrome 11
| |__mitochondrial DNA depletion syndrome 12b 2 rec.
| |__mitochondrial DNA depletion syndrome 13 2 rec.
| |__mitochondrial DNA depletion syndrome 15 41 rec.
| |__mitochondrial DNA depletion syndrome 16 1 rec.
| |__mitochondrial DNA depletion syndrome 16B 1 rec.
| |__mitochondrial DNA depletion syndrome 17 3 rec.
| |__mitochondrial DNA depletion syndrome 18 2 rec.
| |__mitochondrial DNA depletion syndrome 19 6 rec.
| |__mitochondrial DNA depletion syndrome 20 1 rec.
| |__mitochondrial pyruvate carrier deficiency 5 rec.
| |__mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 5 rec.
| |__mitochondrial trifunctional protein deficiency(+) 7 rec.
| |__Miyoshi muscular dystrophy 1 1 rec.
| |__Miyoshi muscular dystrophy 3 2 rec.
| |__mosaic variegated aneuploidy syndrome 1 1 rec.
| |__mosaic variegated aneuploidy syndrome 2
| |__mosaic variegated aneuploidy syndrome 3 1 rec.
| |__mosaic variegated aneuploidy syndrome 4
| |__mucolipidosis III alpha/beta 1 rec.
| |__mucolipidosis III gamma 1 rec.
| |__mucopolysaccharidosis Ih 1 rec.
| |__mucopolysaccharidosis Ih/s 1 rec.
| |__mucopolysaccharidosis IVA 4 rec.
| |__mucopolysaccharidosis type IIIA 18 rec.
| |__mucopolysaccharidosis type IIIB 5 rec.
| |__mucopolysaccharidosis type IIIC 5 rec.
| |__mucopolysaccharidosis type IIID 2 rec.
| |__mucopolysaccharidosis type IVB 2 rec.
| |__mucosulfatidosis 2 rec.
| |__mulibrey nanism
| |__multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
| |__multiple congenital anomalies-hypotonia-seizures syndrome 1 5 rec.
| |__multiple congenital anomalies-hypotonia-seizures syndrome 3 1 rec.
| |__multiple congenital anomalies-hypotonia-seizures syndrome 4 1 rec.
| |__multiple epiphyseal dysplasia 4 1 rec.
| |__multiple epiphyseal dysplasia 7 1 rec.
| |__multiple intestinal atresia 1 rec.
| |__multiple mitochondrial dysfunctions syndrome 1 3 rec.
| |__multiple mitochondrial dysfunctions syndrome 2
| |__multiple mitochondrial dysfunctions syndrome 3 1 rec.
| |__multiple mitochondrial dysfunctions syndrome 4 1 rec.
| |__multiple mitochondrial dysfunctions syndrome 5 1 rec.
| |__multiple mitochondrial dysfunctions syndrome 6 1 rec.
| |__muscular dystrophy-dystroglycanopathy type B1 3 rec.
| |__muscular dystrophy-dystroglycanopathy type B2 2 rec.
| |__muscular dystrophy-dystroglycanopathy type B3 1 rec.
| |__muscular dystrophy-dystroglycanopathy type B4
| |__muscular dystrophy-dystroglycanopathy type B5 1 rec.
| |__muscular dystrophy-dystroglycanopathy type B6 3 rec.
| |__muscular dystrophy-dystroglycanopathy type B14 1 rec.
| |__muscular dystrophy-dystroglycanopathy type B15 1 rec.
| |__muscular dystrophy-dystroglycanopathy type C8
| |__muscular dystrophy-dystroglycanopathy type C12
| |__myofibrillar myopathy 1
| |__myofibrillar myopathy 7 1 rec.
| |__myofibrillar myopathy 8 1 rec.
| |__myofibrillar myopathy 10 1 rec.
| |__myopathy with extrapyramidal signs 6 rec.
| |__myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1
| |__N-acetylglutamate synthase deficiency
| |__Nagashima-type palmoplantar keratosis 5 rec.
| |__Nasu-Hakola disease
| |__nemaline myopathy 1 2 rec.
| |__nemaline myopathy 2
| |__nemaline myopathy 3 7 rec.
| |__nemaline myopathy 5A 1 rec.
| |__nemaline myopathy 5B 1 rec.
| |__nemaline myopathy 7 11 rec.
| |__nemaline myopathy 8 7 rec.
| |__nemaline myopathy 9 7 rec.
| |__nemaline myopathy 10 1 rec.
| |__nemaline myopathy 11
| |__neonatal diabetes mellitus with congenital hypothyroidism 1 rec.
| |__neonatal inflammatory skin and bowel disease 1 1 rec.
| |__neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome 1 rec.
| |__neonatal nephrocutaneous inflammatory syndrome 1 rec.
| |__neonatal-onset type II citrullinemia 2 rec.
| |__nephrogenic diabetes insipidus type 2 6 rec.
| |__nephronophthisis(+) 10 rec.
| |__nephrotic syndrome type 1 10 rec.
| |__nephrotic syndrome type 2 6 rec.
| |__nephrotic syndrome type 3 1 rec.
| |__nephrotic syndrome type 5 1 rec.
| |__nephrotic syndrome type 6 2 rec.
| |__nephrotic syndrome type 7 1 rec.
| |__nephrotic syndrome type 8 1 rec.
| |__nephrotic syndrome type 9 3 rec.
| |__nephrotic syndrome type 10
| |__nephrotic syndrome type 11 1 rec.
| |__nephrotic syndrome type 12 5 rec.
| |__nephrotic syndrome type 13 1 rec.
| |__nephrotic syndrome type 15 1 rec.
| |__nephrotic syndrome type 16 2 rec.
| |__nephrotic syndrome type 17 1 rec.
| |__nephrotic syndrome type 18 1 rec.
| |__nephrotic syndrome type 19 3 rec.
| |__nephrotic syndrome type 21 2 rec.
| |__nephrotic syndrome type 22 1 rec.
| |__nephrotic syndrome type 23 3 rec.
| |__nephrotic syndrome type 24 1 rec.
| |__nephrotic syndrome type 26 1 rec.
| |__Nestor-Guillermo progeria syndrome 7 rec.
| |__Netherton syndrome 1 rec.
| |__neurodegeneration with brain iron accumulation 2a 8 rec.
| |__neurodegeneration with brain iron accumulation 2b 3 rec.
| |__neurodegeneration with brain iron accumulation 4 10 rec.
| |__neurodegeneration with brain iron accumulation 6 3 rec.
| |__neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 1 rec.
| |__neurodevelopmental disorder with midbrain and hindbrain malformations 1 rec.
| |__neurodevelopmental disorder with seizures and gingival overgrowth 1 rec.
| |__neuronal ceroid lipofuscinosis 1 9 rec.
| |__neuronal ceroid lipofuscinosis 2
| |__neuronal ceroid lipofuscinosis 3 2 rec.
| |__neuronal ceroid lipofuscinosis 5
| |__neuronal ceroid lipofuscinosis 6A
| |__neuronal ceroid lipofuscinosis 6B
| |__neuronal ceroid lipofuscinosis 7 9 rec.
| |__neuronal ceroid lipofuscinosis 8 1 rec.
| |__neuronal ceroid lipofuscinosis 8 northern epilepsy variant 1 rec.
| |__neuronal ceroid lipofuscinosis 9
| |__neuronal ceroid lipofuscinosis 10 3 rec.
| |__neuronal ceroid lipofuscinosis 11
| |__neuronal ceroid lipofuscinosis 13 2 rec.
| |__Nezelof syndrome 1 rec.
| |__Nijmegen breakage syndrome 2 rec.
| |__nonphotosensitive trichothiodystrophy 4
| |__nonphotosensitive trichothiodystrophy 6 1 rec.
| |__nonphotosensitive trichothiodystrophy 7 1 rec.
| |__nonphotosensitive trichothiodystrophy 8 2 rec.
| |__nonphotosensitive trichothiodystrophy 9 1 rec.
| |__nonsyndromic congenital nail disorder 3 2 rec.
| |__nonsyndromic congenital nail disorder 4
| |__nonsyndromic congenital nail disorder 9
| |__Noonan syndrome 2 1 rec.
| |__Norman-Roberts syndrome
| |__nuclear type mitochondrial complex I deficiency 1 2 rec.
| |__nuclear type mitochondrial complex I deficiency 2 2 rec.
| |__nuclear type mitochondrial complex I deficiency 3 6 rec.
| |__nuclear type mitochondrial complex I deficiency 4 4 rec.
| |__nuclear type mitochondrial complex I deficiency 5 7 rec.
| |__nuclear type mitochondrial complex I deficiency 6 2 rec.
| |__nuclear type mitochondrial complex I deficiency 7 2 rec.
| |__nuclear type mitochondrial complex I deficiency 8 1 rec.
| |__nuclear type mitochondrial complex I deficiency 9 1 rec.
| |__nuclear type mitochondrial complex I deficiency 10 1 rec.
| |__nuclear type mitochondrial complex I deficiency 11 2 rec.
| |__nuclear type mitochondrial complex I deficiency 13 1 rec.
| |__nuclear type mitochondrial complex I deficiency 14 1 rec.
| |__nuclear type mitochondrial complex I deficiency 15 3 rec.
| |__nuclear type mitochondrial complex I deficiency 16 1 rec.
| |__nuclear type mitochondrial complex I deficiency 17 8 rec.
| |__nuclear type mitochondrial complex I deficiency 18 6 rec.
| |__nuclear type mitochondrial complex I deficiency 19 2 rec.
| |__nuclear type mitochondrial complex I deficiency 20 3 rec.
| |__nuclear type mitochondrial complex I deficiency 21 1 rec.
| |__nuclear type mitochondrial complex I deficiency 22 3 rec.
| |__nuclear type mitochondrial complex I deficiency 23 1 rec.
| |__nuclear type mitochondrial complex I deficiency 24 1 rec.
| |__nuclear type mitochondrial complex I deficiency 25 1 rec.
| |__nuclear type mitochondrial complex I deficiency 26 1 rec.
| |__nuclear type mitochondrial complex I deficiency 27 1 rec.
| |__nuclear type mitochondrial complex I deficiency 28 1 rec.
| |__nuclear type mitochondrial complex I deficiency 29 1 rec.
| |__nuclear type mitochondrial complex I deficiency 31 1 rec.
| |__nuclear type mitochondrial complex I deficiency 32 1 rec.
| |__nuclear type mitochondrial complex I deficiency 33 1 rec.
| |__nuclear type mitochondrial complex I deficiency 34 1 rec.
| |__nuclear type mitochondrial complex I deficiency 35 1 rec.
| |__oculocutaneous albinism(+) 10 rec.
| |__Oguchi disease-1 4 rec.
| |__Oguchi disease-2 1 rec.
| |__Oliver-McFarlane syndrome 6 rec.
| |__omodysplasia 1 1 rec.
| |__optic atrophy 6
| |__optic atrophy 7 1 rec.
| |__optic atrophy 9 2 rec.
| |__optic atrophy 11 1 rec.
| |__optic disc anomalies with retinal and/or macular dystrophy 1 rec.
| |__orofacial cleft 7
| |__orofacial cleft 14
| |__orofaciodigital syndrome II 1 rec.
| |__orofaciodigital syndrome III
| |__orofaciodigital syndrome IV 1 rec.
| |__orofaciodigital syndrome IX
| |__orofaciodigital syndrome V
| |__orofaciodigital syndrome XIV 1 rec.
| |__orofaciodigital syndrome XIX
| |__orofaciodigital syndrome XVI
| |__orofaciodigital syndrome XVII 1 rec.
| |__orofaciodigital syndrome XVIII 1 rec.
| |__orofaciodigital syndrome XX 1 rec.
| |__osteogenesis imperfecta type 7
| |__osteogenesis imperfecta type 8
| |__osteogenesis imperfecta type 9 2 rec.
| |__osteogenesis imperfecta type 10 3 rec.
| |__osteogenesis imperfecta type 11 3 rec.
| |__osteogenesis imperfecta type 12 1 rec.
| |__osteogenesis imperfecta type 13 2 rec.
| |__osteogenesis imperfecta type 15 1 rec.
| |__osteogenesis imperfecta type 17 1 rec.
| |__osteogenesis imperfecta type 18 1 rec.
| |__osteogenesis imperfecta type 20 1 rec.
| |__osteogenesis imperfecta type 21 1 rec.
| |__osteoporosis-pseudoglioma syndrome 2 rec.
| |__osteosclerotic metaphyseal dysplasia 1 rec.
| |__otospondylomegaepiphyseal dysplasia, autosomal recessive
| |__ovarian dysgenesis 1 1 rec.
| |__ovarian dysgenesis 3
| |__ovarian dysgenesis 4 7 rec.
| |__ovarian dysgenesis 5
| |__ovarian dysgenesis 6 3 rec.
| |__ovarian dysgenesis 7 2 rec.
| |__ovarian dysgenesis 9
| |__ovarian dysgenesis 10
| |__oxoglutarate dehydrogenase deficiency 13 rec.
| |__Paget's disease of bone 5
| |__palmoplantar keratoderma and woolly hair 1 rec.
| |__pancreatic agenesis 1 6 rec.
| |__pancreatic agenesis 2 1 rec.
| |__pantothenate kinase-associated neurodegeneration 14 rec.
| |__Papillon-Lefevre disease 7 rec.
| |__Parkinson's disease 2 127 rec.
| |__Parkinson's disease 6 195 rec.
| |__Parkinson's disease 7 22 rec.
| |__Parkinson's disease 14 19 rec.
| |__Parkinson's disease 15 5 rec.
| |__Parkinson's disease 19A 7 rec.
| |__Parkinson's disease 20 2 rec.
| |__Parkinson's disease 23 2 rec.
| |__Parkinson's disease 25 5 rec.
| |__peeling skin syndrome(+) 5 rec.
| |__Pendred Syndrome 1 rec.
| |__pentosuria 1 rec.
| |__permanent neonatal diabetes mellitus 9 rec.
| |__peroxisomal acyl-CoA oxidase deficiency 5 rec.
| |__peroxisome biogenesis disorder 1B 3 rec.
| |__peroxisome biogenesis disorder 2B 1 rec.
| |__peroxisome biogenesis disorder 3B 1 rec.
| |__Peroxisome biogenesis disorder 4B 1 rec.
| |__Peroxisome biogenesis disorder 5B 1 rec.
| |__Peroxisome biogenesis disorder 6B 1 rec.
| |__Peroxisome biogenesis disorder 7B
| |__Peroxisome biogenesis disorder 8B 1 rec.
| |__Peroxisome biogenesis disorder 9B 3 rec.
| |__Peroxisome biogenesis disorder 10B 1 rec.
| |__Peroxisome biogenesis disorder 11B 1 rec.
| |__peroxisome biogenesis disorder 14B 2 rec.
| |__Perrault syndrome(+) 6 rec.
| |__PHARC syndrome 1 rec.
| |__photosensitive trichothiodystrophy 1 1 rec.
| |__photosensitive trichothiodystrophy 2 1 rec.
| |__photosensitive trichothiodystrophy 3 1 rec.
| |__Pierson syndrome 1 rec.
| |__Pitt-Hopkins-like syndrome 2 2 rec.
| |__PLACK syndrome
| |__plasminogen deficiency type I 1 rec.
| |__platelet-type bleeding disorder 8
| |__platelet-type bleeding disorder 10 2 rec.
| |__platelet-type bleeding disorder 11
| |__platelet-type bleeding disorder 18
| |__platelet-type bleeding disorder 19 3 rec.
| |__poikiloderma with neutropenia 1 rec.
| |__polyhydramnios, megalencephaly, and symptomatic epilepsy 1 rec.
| |__pontocerebellar hypoplasia type 1A 2 rec.
| |__pontocerebellar hypoplasia type 1B 7 rec.
| |__pontocerebellar hypoplasia type 1C 1 rec.
| |__pontocerebellar hypoplasia type 1D 1 rec.
| |__pontocerebellar hypoplasia type 1E 2 rec.
| |__pontocerebellar hypoplasia type 1F 1 rec.
| |__pontocerebellar hypoplasia type 2A 1 rec.
| |__pontocerebellar hypoplasia type 2B 1 rec.
| |__pontocerebellar hypoplasia type 2C 1 rec.
| |__pontocerebellar hypoplasia type 2D 1 rec.
| |__pontocerebellar hypoplasia type 2E 1 rec.
| |__pontocerebellar hypoplasia type 2F
| |__pontocerebellar hypoplasia type 11 1 rec.
| |__pontocerebellar hypoplasia type 12 1 rec.
| |__pontocerebellar hypoplasia type 13 1 rec.
| |__pontocerebellar hypoplasia type 14 1 rec.
| |__pontocerebellar hypoplasia type 15 1 rec.
| |__pontocerebellar hypoplasia type 16 2 rec.
| |__poor metabolism of thiopurines(+)
| |__postaxial acrofacial dysostosis 1 rec.
| |__preaxial polydactyly I 1 rec.
| |__primary autosomal recessive microcephaly(+) 68 rec.
| |__primary ciliary dyskinesia 38
| |__primary ciliary dyskinesia 39 1 rec.
| |__primary ciliary dyskinesia 40 2 rec.
| |__primary ciliary dyskinesia 41 1 rec.
| |__primary ciliary dyskinesia 42 1 rec.
| |__primary ciliary dyskinesia 44
| |__primary ciliary dyskinesia 45 4 rec.
| |__primary coenzyme Q10 deficiency 9 1 rec.
| |__primary ovarian insufficiency 8 2 rec.
| |__primary ovarian insufficiency 9 2 rec.
| |__primary ovarian insufficiency 10 1 rec.
| |__primary ovarian insufficiency 12
| |__primary ovarian insufficiency 13 2 rec.
| |__primary ovarian insufficiency 14
| |__primary ovarian insufficiency 15 1 rec.
| |__primary ovarian insufficiency 18
| |__primary ovarian insufficiency 19
| |__progressive familial intrahepatic cholestasis 1 1 rec.
| |__progressive familial intrahepatic cholestasis 2 1 rec.
| |__progressive familial intrahepatic cholestasis 3 4 rec.
| |__progressive familial intrahepatic cholestasis 4 1 rec.
| |__progressive familial intrahepatic cholestasis 5 1 rec.
| |__progressive leukoencephalopathy with ovarian failure 2 rec.
| |__progressive myoclonus epilepsy 1A
| |__progressive myoclonus epilepsy 1B 3 rec.
| |__progressive myoclonus epilepsy 3
| |__progressive myoclonus epilepsy 4 3 rec.
| |__progressive myoclonus epilepsy 6 2 rec.
| |__progressive myoclonus epilepsy 8
| |__progressive myoclonus epilepsy 9 2 rec.
| |__progressive myoclonus epilepsy 10 1 rec.
| |__progressive pseudorheumatoid arthropathy of childhood 1 rec.
| |__prolidase deficiency 1 rec.
| |__proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 2 rec.
| |__proprotein convertase 1/3 deficiency 1 rec.
| |__proteasome-associated autoinflammatory syndrome 1 2 rec.
| |__proteasome-associated autoinflammatory syndrome 3 1 rec.
| |__proteosome-associated autoinflammatory syndrome 4 1 rec.
| |__proteosome-associated autoinflammatory syndrome 5 3 rec.
| |__prothrombin deficiency 1 rec.
| |__prune belly syndrome 1 rec.
| |__pseudo-TORCH syndrome 1
| |__pseudoxanthoma elasticum 2 rec.
| |__pulmonary venoocclusive disease 2 1 rec.
| |__purine nucleoside phosphorylase deficiency 2 rec.
| |__pycnodysostosis 4 rec.
| |__pyridoxine-dependent epilepsy(+) 2 rec.
| |__Ramon syndrome
| |__rapadilino syndrome 1 rec.
| |__recessive dystrophic epidermolysis bullosa
| |__RENI syndrome 2 rec.
| |__restrictive dermopathy 1 4 rec.
| |__reticular dysgenesis 1 rec.
| |__retinal cone dystrophy 3B 1 rec.
| |__retinal dystrophy with leukodystrophy 1 rec.
| |__retinitis pigmentosa 1
| |__retinitis pigmentosa 4 50 rec.
| |__retinitis pigmentosa 7 5 rec.
| |__retinitis pigmentosa 12 3 rec.
| |__retinitis pigmentosa 14 1 rec.
| |__retinitis pigmentosa 19 1 rec.
| |__retinitis pigmentosa 20 1 rec.
| |__retinitis pigmentosa 25 2 rec.
| |__retinitis pigmentosa 26 1 rec.
| |__retinitis pigmentosa 28 1 rec.
| |__retinitis pigmentosa 29
| |__retinitis pigmentosa 35 5 rec.
| |__retinitis pigmentosa 37 1 rec.
| |__retinitis pigmentosa 38
| |__retinitis pigmentosa 40 1 rec.
| |__retinitis pigmentosa 41 3 rec.
| |__retinitis pigmentosa 45 1 rec.
| |__retinitis pigmentosa 50 4 rec.
| |__retinitis pigmentosa 56
| |__retinitis pigmentosa 57
| |__retinitis pigmentosa 59 4 rec.
| |__retinitis pigmentosa 62 1 rec.
| |__retinitis pigmentosa 68 2 rec.
| |__retinitis pigmentosa 69
| |__retinitis pigmentosa 71 1 rec.
| |__retinitis pigmentosa 72 2 rec.
| |__retinitis pigmentosa 73 1 rec.
| |__retinitis pigmentosa 74
| |__retinitis pigmentosa 75 1 rec.
| |__retinitis pigmentosa 76 1 rec.
| |__retinitis pigmentosa 77 3 rec.
| |__retinitis pigmentosa 78 1 rec.
| |__retinitis pigmentosa 80 1 rec.
| |__retinitis pigmentosa 81 1 rec.
| |__retinitis pigmentosa 84 1 rec.
| |__retinitis pigmentosa 85 1 rec.
| |__retinitis pigmentosa 88
| |__retinitis pigmentosa 90 3 rec.
| |__retinitis pigmentosa 92 1 rec.
| |__retinitis pigmentosa 93 1 rec.
| |__retinitis pigmentosa 95 1 rec.
| |__retinitis pigmentosa 98 2 rec.
| |__retinitis pigmentosa with or without situs inversus
| |__retinopathy sensory neuropathy syndrome 1 rec.
| |__rhizomelic chondrodysplasia punctata(+) 15 rec.
| |__RIDDLE syndrome 1 rec.
| |__right atrial isomerism
| |__rigid spine muscular dystrophy 1
| |__Ritscher-Schinzel syndrome 1 1 rec.
| |__RNASET2-deficient cystic leukoencephalopathy 1 rec.
| |__Roberts syndrome 1 rec.
| |__Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 8 rec.
| |__Ruijs-Aalfs syndrome 1 rec.
| |__salt and pepper syndrome
| |__Sandestig-Stefanova syndrome 4 rec.
| |__sarcosinemia 1 rec.
| |__Schimke immuno-osseous dysplasia 49 rec.
| |__Schindler disease(+) 2 rec.
| |__Schinzel type phocomelia 1 rec.
| |__Schwartz-Jampel syndrome 1 1 rec.
| |__sclerosteosis 1
| |__sclerosteosis 2 2 rec.
| |__Seckel syndrome(+) 24 rec.
| |__Sengers syndrome 4 rec.
| |__Senior-Loken syndrome 2 rec.
| |__sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2 rec.
| |__sepiapterin reductase deficiency 2 rec.
| |__severe combined immunodeficiency 104
| |__severe combined immunodeficiency 105 1 rec.
| |__severe combined immunodeficiency 124
| |__severe combined immunodeficiency with sensitivity to ionizing radiation
| |__severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive
| |__severe congenital neutropenia 3 1 rec.
| |__severe congenital neutropenia 4 1 rec.
| |__severe congenital neutropenia 5 1 rec.
| |__severe congenital neutropenia 6 1 rec.
| |__severe congenital neutropenia 7
| |__short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
| |__short stature, hearing loss, retinitis pigmentosa, and distinctive facies 17 rec.
| |__short-rib thoracic dysplasia 6 with or without polydactyly 1 rec.
| |__short-rib thoracic dysplasia 7 with or without polydactyly 1 rec.
| |__short-rib thoracic dysplasia 8 with or without polydactyly 1 rec.
| |__short-rib thoracic dysplasia 9 with or without polydactyly 1 rec.
| |__short-rib thoracic dysplasia 10 with or without polydactyly 1 rec.
| |__short-rib thoracic dysplasia 11 with or without polydactyly 3 rec.
| |__short-rib thoracic dysplasia 13 with or without polydactyly 1 rec.
| |__short-rib thoracic dysplasia 14 with polydactyly
| |__short-rib thoracic dysplasia 18 with polydactyly 1 rec.
| |__short-rib thoracic dysplasia 19 with or without polydactyly
| |__sickle cell anemia
| |__sideroblastic anemia 5 1 rec.
| |__sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay 1 rec.
| |__Silverman-Handmaker type dyssegmental dysplasia 1 rec.
| |__sitosterolemia(+) 7 rec.
| |__Sjogren-Larsson syndrome 1 rec.
| |__SOST-related sclerosing bone dysplasia
| |__Sotos syndrome 3 2 rec.
| |__spastic ataxia 2 1 rec.
| |__spastic ataxia 3 2 rec.
| |__spastic ataxia 4 2 rec.
| |__spastic ataxia 5 2 rec.
| |__spastic ataxia 8 1 rec.
| |__spastic quadriplegic cerebral palsy 3 8 rec.
| |__spermatogenic failure 5 2 rec.
| |__spermatogenic failure 6
| |__spermatogenic failure 7
| |__spermatogenic failure 9 1 rec.
| |__spermatogenic failure 13 1 rec.
| |__spermatogenic failure 14
| |__spermatogenic failure 15
| |__spermatogenic failure 16 2 rec.
| |__spermatogenic failure 17 2 rec.
| |__spermatogenic failure 18 3 rec.
| |__spermatogenic failure 19 1 rec.
| |__spermatogenic failure 20 1 rec.
| |__spermatogenic failure 21 2 rec.
| |__spermatogenic failure 22 1 rec.
| |__spermatogenic failure 23
| |__spermatogenic failure 24
| |__spermatogenic failure 25
| |__spermatogenic failure 26 1 rec.
| |__spermatogenic failure 27
| |__spermatogenic failure 28 1 rec.
| |__spermatogenic failure 29 5 rec.
| |__spermatogenic failure 30 1 rec.
| |__spermatogenic failure 31
| |__spermatogenic failure 33
| |__spermatogenic failure 34
| |__spermatogenic failure 35 1 rec.
| |__spermatogenic failure 37
| |__spermatogenic failure 38 1 rec.
| |__spermatogenic failure 39 2 rec.
| |__spermatogenic failure 40
| |__spermatogenic failure 41 1 rec.
| |__spermatogenic failure 42
| |__spermatogenic failure 43
| |__spermatogenic failure 44
| |__spermatogenic failure 45 2 rec.
| |__spermatogenic failure 46 1 rec.
| |__spermatogenic failure 47 1 rec.
| |__spermatogenic failure 48
| |__spermatogenic failure 49 3 rec.
| |__spermatogenic failure 50 1 rec.
| |__spermatogenic failure 51 3 rec.
| |__spermatogenic failure 52
| |__spermatogenic failure 53 5 rec.
| |__spermatogenic failure 54 1 rec.
| |__spermatogenic failure 55
| |__spermatogenic failure 56 1 rec.
| |__spermatogenic failure 57
| |__spermatogenic failure 58
| |__spermatogenic failure 59
| |__spermatogenic failure 60
| |__spermatogenic failure 61 2 rec.
| |__spermatogenic failure 62 2 rec.
| |__spermatogenic failure 63 1 rec.
| |__spermatogenic failure 64 1 rec.
| |__spermatogenic failure 65
| |__spermatogenic failure 66
| |__spermatogenic failure 67
| |__spermatogenic failure 68
| |__spermatogenic failure 69
| |__spermatogenic failure 70 2 rec.
| |__spermatogenic failure 71
| |__spermatogenic failure 72 1 rec.
| |__spermatogenic failure 73 3 rec.
| |__spermatogenic failure 74 2 rec.
| |__spermatogenic failure 75
| |__spermatogenic failure 76 3 rec.
| |__spermatogenic failure 77 2 rec.
| |__spermatogenic failure 78
| |__spermatogenic failure 79 1 rec.
| |__spermatogenic failure 80 1 rec.
| |__spermatogenic failure 81 3 rec.
| |__spermatogenic failure 82
| |__spermatogenic failure 83 1 rec.
| |__spermatogenic failure 84 2 rec.
| |__spermatogenic failure 85
| |__spermatogenic failure 86 6 rec.
| |__spermatogenic failure 87 2 rec.
| |__spermatogenic failure 88
| |__spermatogenic failure 89
| |__spermatogenic failure 90
| |__spermatogenic failure 91
| |__spermatogenic failure 92 3 rec.
| |__spermatogenic failure 93 3 rec.
| |__spermatogenic failure 94
| |__spermatogenic failure 95 1 rec.
| |__spinal muscular atrophy with progressive myoclonic epilepsy
| |__split hand-foot malformation 1 with sensorineural hearing loss 1 rec.
| |__split hand-foot malformation 6 1 rec.
| |__SPOAN syndrome 1 rec.
| |__spondylocarpotarsal synostosis syndrome 3 rec.
| |__spondylocostal dysostosis 1
| |__spondylocostal dysostosis 2 1 rec.
| |__spondylocostal dysostosis 3 1 rec.
| |__spondylocostal dysostosis 4 3 rec.
| |__spondylocostal dysostosis 6
| |__spondyloepimetaphyseal dysplasia with joint laxity type 1 1 rec.
| |__spondyloepimetaphyseal dysplasia with joint laxity type 3 1 rec.
| |__spondyloepimetaphyseal dysplasia, Genevieve-type 1 rec.
| |__spondyloepimetaphyseal dysplasia, Pakistani type 1 rec.
| |__spondyloepimetaphyseal dysplasia, Sponastrime type 1 rec.
| |__spondyloepiphyseal dysplasia Kondo-Fu type 1 rec.
| |__spondyloepiphyseal dysplasia tarda with characteristic facies
| |__spondyloepiphyseal dysplasia tarda with intellectual disability
| |__spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis 1 rec.
| |__spondylometaepiphyseal dysplasia, short limb-hand type 2 rec.
| |__spondylometaphyseal dysplasia Megarbane-Dagher-Melike type 2 rec.
| |__spondylometaphyseal dysplasia Sedaghatian type 2 rec.
| |__spondylometaphyseal dysplasia with cone-rod dystrophy 2 rec.
| |__spondylometaphyseal dysplasia with corneal dystrophy 1 rec.
| |__stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 3 rec.
| |__syndromic microphthalmia 9
| |__T-cell immunodeficiency, congenital alopecia, and nail dystrophy 1 rec.
| |__TANGO2-related metabolic encephalopathy and arrythmias 3 rec.
| |__temtamy preaxial brachydactyly syndrome 1 rec.
| |__Temtamy syndrome 1 rec.
| |__tetraamelia syndrome 1 3 rec.
| |__tetraamelia syndrome 2
| |__thalassemia(+) 3 rec.
| |__thiamine-responsive megaloblastic anemia syndrome 1 rec.
| |__thrombocytopenia-absent radius syndrome 1 rec.
| |__thyroid dyshormonogenesis 1 13 rec.
| |__thyroid dyshormonogenesis 2A 6 rec.
| |__thyroid dyshormonogenesis 3
| |__thyroid dyshormonogenesis 4 1 rec.
| |__thyroid dyshormonogenesis 5 1 rec.
| |__thyroid dyshormonogenesis 6 1 rec.
| |__torsion dystonia 2 1 rec.
| |__torsion dystonia 17
| |__transient bullous dermolysis of the newborn
| |__transient infantile liver failure 1 rec.
| |__Treacher Collins syndrome 2 3 rec.
| |__Treacher Collins syndrome 3 1 rec.
| |__trichohepatoenteric syndrome(+) 2 rec.
| |__trimethylaminuria 2 rec.
| |__triple-A syndrome 2 rec.
| |__Troyer syndrome 14 rec.
| |__Tukel syndrome
| |__Ullrich congenital muscular dystrophy(+)
| |__urocanase deficiency
| |__urofacial syndrome 2 rec.
| |__Usher syndrome(+) 13 rec.
| |__UV-sensitive syndrome
| |__Van den Ende-Gupta syndrome
| |__Van Maldergem syndrome(+) 7 rec.
| |__ventriculomegaly - cystic kidney disease 1 rec.
| |__Vici syndrome 8 rec.
| |__visceral heterotaxy 6 1 rec.
| |__visceral heterotaxy 7 2 rec.
| |__visceral heterotaxy 8 5 rec.
| |__visceral heterotaxy 9 1 rec.
| |__visceral heterotaxy 10 1 rec.
| |__visceral heterotaxy 11 2 rec.
| |__visceral heterotaxy 12 1 rec.
| |__visceral heterotaxy 13
| |__visceral heterotaxy 14
| |__visual impairment and progressive phthisis bulbi 3 rec.
| |__vitamin D-dependent rickets type 1A 9 rec.
| |__vitamin D-dependent rickets type 1B 1 rec.
| |__vitamin D-dependent rickets type 2A 1 rec.
| |__Walker-Warburg syndrome 12 rec.
| |__Warburg micro syndrome(+) 11 rec.
| |__Warsaw breakage syndrome 1 rec.
| |__Werner syndrome 10 rec.
| |__WHIM syndrome 2
| |__Wiedemann-Rautenstrauch syndrome 1 rec.
| |__Wolcott-Rallison syndrome 1 rec.
| |__Wolfram syndrome 1 9 rec.
| |__Wolfram syndrome 2 2 rec.
| |__Woodhouse-Sakati syndrome
| |__wrinkly skin syndrome 5 rec.
| |__xanthinuria(+) 19 rec.
| |__xeroderma pigmentosum(+) 23 rec.
| |__XFE progeroid syndrome 1 rec.
| |__Yoon-Bellen neurodevelopmental syndrome 14 rec.
| |__Yunis-Varon syndrome 2 rec.
| |__Zaki syndrome 1 rec.
| |__Zellweger syndrome(+) 47 rec.
|__blepharophimosis, ptosis, and epicanthus inversus syndrome 2 rec.
|__camptodactyly-tall stature-scoliosis-hearing loss syndrome 1 rec.
|__chromosome 1q41-q42 deletion syndrome
|__combined oxidative phosphorylation deficiency 55 1 rec.
|__distal arthrogryposis type 1C 3 rec.
|__dopamine transporter deficiency syndrome 12 rec.
| |__atypical dopamine transporter deficiency syndrome
| |__classic dopamine transporter deficiency syndrome 12 rec.
|__exudative vitreoretinopathy 4 2 rec.
|__factor XI deficiency 1 rec.
|__familial adenomatous polyposis 23 rec.
| |__familial adenomatous polyposis 1 20 rec.
| |__familial adenomatous polyposis 2
| |__familial adenomatous polyposis 3 1 rec.
| |__familial adenomatous polyposis 4 1 rec.
|__familial Mediterranean fever
|__focal segmental glomerulosclerosis 3 2 rec.
|__Gillespie syndrome 1 rec.
|__glucose transporter type 1 deficiency syndrome 5 rec.
| |__dystonia 9 5 rec.
| |__glucose transporter type 1 deficiency syndrome 1 5 rec.
| |__glucose transporter type 1 deficiency syndrome 2 5 rec.
|__hereditary desmoid disease 1 rec.
|__hereditary spastic paraplegia 30 2 rec.
| |__hereditary spastic paraplegia 30A 1 rec.
| |__hereditary spastic paraplegia 30B 1 rec.
|__hypophosphatasia 7 rec.
| |__adult hypophosphatasia 7 rec.
| |__childhood hypophosphatasia 7 rec.
| |__infantile hypophosphatasia 7 rec.
|__McCune Albright syndrome 2 rec.
|__neurodevelopmental disorder with hypotonia and speech delay 6 rec.
|__retinitis pigmentosa 86
|__Robinow syndrome 8 rec.
| |__autosomal dominant Robinow syndrome 1 1 rec.
| |__autosomal dominant Robinow syndrome 2 6 rec.
| |__autosomal dominant Robinow syndrome 3 1 rec.
| |__autosomal recessive Robinow syndrome 1 rec.
| |__autosomal recessive Robinow syndrome 2
|__septooptic dysplasia
|__Sotos syndrome 6 rec.
| |__Sotos syndrome 1 3 rec.
| |__Sotos syndrome 2 1 rec.
| |__Sotos syndrome 3 2 rec.
|__spondylocostal dysostosis 5 3 rec.
|__syndromic microphthalmia 8
|__syndromic microphthalmia 12
|__syndromic microphthalmia 14 2 rec.
|__thrombophilia due to thrombomodulin defect 2 rec.
|__tubulinopathy
|__Weill-Marchesani syndrome 3 rec.
|
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