monogenic disease
|__autosomal genetic disease
|__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.
| |__abdominal obesity-metabolic syndrome 1 2 rec.
| |__abdominal obesity-metabolic syndrome 3 1 rec.
| |__abdominal obesity-metabolic syndrome 4 2 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.
| |__advanced sleep phase syndrome 1 1 rec.
| |__advanced sleep phase syndrome 2 2 rec.
| |__advanced sleep phase syndrome 3 1 rec.
| |__advanced sleep phase syndrome 4 2 rec.
|__agammaglobulinemia 5
|__agammaglobulinemia 8A 1 rec.
|__agammaglobulinemia 10 1 rec.
|__age related macular degeneration 14 rec.
| |__age related macular degeneration 1 2 rec.
| |__age related macular degeneration 2 1 rec.
| |__age related macular degeneration 4
| |__age related macular degeneration 5
| |__age related macular degeneration 6 1 rec.
| |__age related macular degeneration 7
| |__age related macular degeneration 8
| |__age related macular degeneration 9 3 rec.
| |__age related macular degeneration 10
| |__age related macular degeneration 11 3 rec.
| |__age related macular degeneration 12
| |__age related macular degeneration 13
| |__age related macular degeneration 14
| |__age related macular degeneration 15
| |__Stargardt disease 5 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.
| |__centronuclear myopathy 1 3 rec.
| |__centronuclear myopathy 4
|__autosomal dominant cerebellar ataxia 895 rec.
| |__autosomal dominant cerebellar ataxia, deafness and narcolepsy
| |__cerebellar ataxia type 9
| |__cerebellar ataxia type 41 3 rec.
| |__cerebellar ataxia type 42 1 rec.
| |__cerebellar ataxia type 43 14 rec.
| |__cerebellar ataxia type 47 1 rec.
| |__cerebellar ataxia type 48 1 rec.
| |__dentatorubral-pallidoluysian atrophy 23 rec.
| |__GRID2-related spinocerebellar ataxia
| |__hypomyelinating leukoencephalopathy
| |__Machado-Joseph disease 474 rec.
| |__nonprogressive cerebellar ataxia with mental retardation 1 rec.
| |__spinocerebellar ataxia 44 1 rec.
| |__spinocerebellar ataxia 45 1 rec.
| |__spinocerebellar ataxia 46 2 rec.
| |__spinocerebellar ataxia type 1 33 rec.
| |__spinocerebellar ataxia type 2 25 rec.
| |__spinocerebellar ataxia type 4 2 rec.
| |__spinocerebellar ataxia type 5 19 rec.
| |__spinocerebellar ataxia type 6 17 rec.
| |__spinocerebellar ataxia type 7 11 rec.
| |__spinocerebellar ataxia type 8 7 rec.
| |__spinocerebellar ataxia type 10 3 rec.
| |__spinocerebellar ataxia type 11 1 rec.
| |__spinocerebellar ataxia type 12 2 rec.
| |__spinocerebellar ataxia type 13 6 rec.
| |__spinocerebellar ataxia type 14 3 rec.
| |__spinocerebellar ataxia type 15 2 rec.
| |__spinocerebellar ataxia type 17 9 rec.
| |__spinocerebellar ataxia type 18
| |__spinocerebellar ataxia type 19/22 2 rec.
| |__spinocerebellar ataxia type 20
| |__spinocerebellar ataxia type 21
| |__spinocerebellar ataxia type 23
| |__spinocerebellar ataxia type 25 1 rec.
| |__spinocerebellar ataxia type 26 1 rec.
| |__spinocerebellar ataxia type 27A 1 rec.
| |__spinocerebellar ataxia type 27B 1 rec.
| |__spinocerebellar ataxia type 28 2 rec.
| |__spinocerebellar ataxia type 29 2 rec.
| |__spinocerebellar ataxia type 30
| |__spinocerebellar ataxia type 31 29 rec.
| |__spinocerebellar ataxia type 34 2 rec.
| |__spinocerebellar ataxia type 35 5 rec.
| |__spinocerebellar ataxia type 36 1 rec.
| |__spinocerebellar ataxia type 37 1 rec.
| |__spinocerebellar ataxia type 38 2 rec.
| |__spinocerebellar ataxia type 40 1 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 cutis laxa 1
| |__autosomal dominant cutis laxa 2
| |__autosomal dominant cutis laxa 3 1 rec.
|__autosomal dominant distal hereditary motor neuronopathy 38 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 1
| |__autosomal dominant distal hereditary motor neuronopathy 2 15 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 3 6 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 4 13 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 5 2 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 6
| |__autosomal dominant distal hereditary motor neuronopathy 7 1 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 8 3 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 9 1 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 10
| |__autosomal dominant distal hereditary motor neuronopathy 11 1 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 12 1 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 13 1 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 14 3 rec.
| |__autosomal dominant distal hereditary motor neuronopathy 15 1 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 hypocalcemia 1
| |__autosomal dominant hypocalcemia 2 1 rec.
|__autosomal dominant hypophosphatemic rickets 1 rec.
|__autosomal dominant intellectual developmental disorder 241 rec.
| |__Arboleda-Tham syndrome 1 rec.
| |__autosomal dominant intellectual developmental disorder 1 1 rec.
| |__autosomal dominant intellectual developmental disorder 2
| |__autosomal dominant intellectual developmental disorder 3 1 rec.
| |__autosomal dominant intellectual developmental disorder 4
| |__autosomal dominant intellectual developmental disorder 5 1 rec.
| |__autosomal dominant intellectual developmental disorder 6 6 rec.
| |__autosomal dominant intellectual developmental disorder 7 2 rec.
| |__autosomal dominant intellectual developmental disorder 8 1 rec.
| |__autosomal dominant intellectual developmental disorder 10 1 rec.
| |__autosomal dominant intellectual developmental disorder 11 1 rec.
| |__autosomal dominant intellectual developmental disorder 13 1 rec.
| |__autosomal dominant intellectual developmental disorder 19 1 rec.
| |__autosomal dominant intellectual developmental disorder 21 4 rec.
| |__autosomal dominant intellectual developmental disorder 22
| |__autosomal dominant intellectual developmental disorder 23 1 rec.
| |__autosomal dominant intellectual developmental disorder 26 1 rec.
| |__autosomal dominant intellectual developmental disorder 29
| |__autosomal dominant intellectual developmental disorder 30 1 rec.
| |__autosomal dominant intellectual developmental disorder 31 1 rec.
| |__autosomal dominant intellectual developmental disorder 33 4 rec.
| |__autosomal dominant intellectual developmental disorder 34 3 rec.
| |__autosomal dominant intellectual developmental disorder 35 2 rec.
| |__autosomal dominant intellectual developmental disorder 36 1 rec.
| |__autosomal dominant intellectual developmental disorder 38 2 rec.
| |__autosomal dominant intellectual developmental disorder 39 1 rec.
| |__autosomal dominant intellectual developmental disorder 40
| |__autosomal dominant intellectual developmental disorder 41 1 rec.
| |__autosomal dominant intellectual developmental disorder 42 2 rec.
| |__autosomal dominant intellectual developmental disorder 43 1 rec.
| |__autosomal dominant intellectual developmental disorder 44 1 rec.
| |__autosomal dominant intellectual developmental disorder 45 1 rec.
| |__autosomal dominant intellectual developmental disorder 46 1 rec.
| |__autosomal dominant intellectual developmental disorder 47 2 rec.
| |__autosomal dominant intellectual developmental disorder 48 8 rec.
| |__autosomal dominant intellectual developmental disorder 50 1 rec.
| |__autosomal dominant intellectual developmental disorder 51 1 rec.
| |__autosomal dominant intellectual developmental disorder 52 1 rec.
| |__autosomal dominant intellectual developmental disorder 53 2 rec.
| |__autosomal dominant intellectual developmental disorder 54 2 rec.
| |__autosomal dominant intellectual developmental disorder 55 4 rec.
| |__autosomal dominant intellectual developmental disorder 56 1 rec.
| |__autosomal dominant intellectual developmental disorder 57 1 rec.
| |__autosomal dominant intellectual developmental disorder 58 1 rec.
| |__autosomal dominant intellectual developmental disorder 59 1 rec.
| |__autosomal dominant intellectual developmental disorder 60 with seizures 1 rec.
| |__autosomal dominant intellectual developmental disorder 61 1 rec.
| |__autosomal dominant intellectual developmental disorder 62 1 rec.
| |__autosomal dominant intellectual developmental disorder 63 with macrocephaly 1 rec.
| |__autosomal dominant intellectual developmental disorder 64
| |__autosomal dominant intellectual developmental disorder 65 1 rec.
| |__autosomal dominant intellectual developmental disorder 66 1 rec.
| |__autosomal dominant intellectual developmental disorder 67 17 rec.
| |__autosomal dominant intellectual developmental disorder 68 1 rec.
| |__autosomal dominant intellectual developmental disorder 69 1 rec.
| |__autosomal dominant intellectual developmental disorder 70 1 rec.
| |__autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities 1 rec.
| |__autosomal dominant intellectual developmental disorder 72 1 rec.
| |__autosomal dominant intellectual developmental disorder 73 2 rec.
| |__autosomal dominant intellectual developmental disorder 74 1 rec.
| |__autosomal dominant intellectual developmental disorder 75 2 rec.
| |__autosomal dominant intellectual developmental disorder type FRA12A 1 rec.
| |__Bryant-Li-Bhoj neurodevelopmental syndrome(+) 2 rec.
| |__cerebellar ataxia type 47 1 rec.
| |__Clark-Baraitser syndrome 1 rec.
| |__Coffin-Siris syndrome(+) 32 rec.
| |__developmental delay, dysmorphic facies, and brain anomalies 9 rec.
| |__developmental delay, hypotonia, and impaired language 4 rec.
| |__GAND syndrome 2 rec.
| |__Helsmoortel-Van Der Aa Syndrome
| |__intellectual developmental disorder with autistic features and language delay, with or without seizures 4 rec.
| |__intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 rec.
| |__intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 15 rec.
| |__Luo-Schoch-Yamamoto syndrome 8 rec.
| |__NESCAV syndrome 2 rec.
| |__neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 17 rec.
| |__neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 1 rec.
| |__neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 9 rec.
| |__neurodevelopmental disorder with eye movement abnormalities and ataxia 11 rec.
| |__neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 1 rec.
| |__neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1 rec.
| |__neurodevelopmental disorder with or without autism or seizures 2 rec.
| |__neurodevelopmental disorder with speech impairment and dysmorphic facies 4 rec.
| |__Pierpont syndrome 1 rec.
| |__ReNU syndrome
| |__Schuurs-Hoeijmakers Syndrome 1 rec.
| |__Sifrim-Hitz-Weiss syndrome 2 rec.
| |__Vulto-van Silfout-de Vries syndrome 1 rec.
| |__White-Sutton syndrome 2 rec.
| |__Xia-Gibbs Syndrome
|__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 limb-girdle muscular dystrophy type 1 3 rec.
| |__autosomal dominant limb-girdle muscular dystrophy type 1H
| |__autosomal dominant limb-girdle muscular dystrophy type 2 6 rec.
| |__autosomal dominant limb-girdle muscular dystrophy type 3 5 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 nocturnal frontal lobe epilepsy 1 5 rec.
| |__autosomal dominant nocturnal frontal lobe epilepsy 2
| |__autosomal dominant nocturnal frontal lobe epilepsy 3 1 rec.
| |__autosomal dominant nocturnal frontal lobe epilepsy 4 4 rec.
| |__autosomal dominant nocturnal frontal lobe epilepsy 5 6 rec.
|__autosomal dominant nonsyndromic deafness 80 rec.
| |__autosomal dominant auditory neuropathy 1 4 rec.
| |__autosomal dominant auditory neuropathy 3 1 rec.
| |__autosomal dominant nonsyndromic deafness 1 1 rec.
| |__autosomal dominant nonsyndromic deafness 2A 1 rec.
| |__autosomal dominant nonsyndromic deafness 2B
| |__autosomal dominant nonsyndromic deafness 3A
| |__autosomal dominant nonsyndromic deafness 3B
| |__autosomal dominant nonsyndromic deafness 4A 1 rec.
| |__autosomal dominant nonsyndromic deafness 4B
| |__autosomal dominant nonsyndromic deafness 5
| |__autosomal dominant nonsyndromic deafness 6 1 rec.
| |__autosomal dominant nonsyndromic deafness 7 2 rec.
| |__autosomal dominant nonsyndromic deafness 9
| |__autosomal dominant nonsyndromic deafness 10 1 rec.
| |__autosomal dominant nonsyndromic deafness 11 2 rec.
| |__autosomal dominant nonsyndromic deafness 12 1 rec.
| |__autosomal dominant nonsyndromic deafness 13
| |__autosomal dominant nonsyndromic deafness 15 1 rec.
| |__autosomal dominant nonsyndromic deafness 16
| |__autosomal dominant nonsyndromic deafness 17 1 rec.
| |__autosomal dominant nonsyndromic deafness 18
| |__autosomal dominant nonsyndromic deafness 20 2 rec.
| |__autosomal dominant nonsyndromic deafness 21
| |__autosomal dominant nonsyndromic deafness 22 1 rec.
| |__autosomal dominant nonsyndromic deafness 23 1 rec.
| |__autosomal dominant nonsyndromic deafness 24
| |__autosomal dominant nonsyndromic deafness 25 13 rec.
| |__autosomal dominant nonsyndromic deafness 27 1 rec.
| |__autosomal dominant nonsyndromic deafness 28 1 rec.
| |__autosomal dominant nonsyndromic deafness 30
| |__autosomal dominant nonsyndromic deafness 31
| |__autosomal dominant nonsyndromic deafness 33
| |__autosomal dominant nonsyndromic deafness 34
| |__autosomal dominant nonsyndromic deafness 36 1 rec.
| |__autosomal dominant nonsyndromic deafness 37 1 rec.
| |__autosomal dominant nonsyndromic deafness 40 1 rec.
| |__autosomal dominant nonsyndromic deafness 41
| |__autosomal dominant nonsyndromic deafness 43
| |__autosomal dominant nonsyndromic deafness 44 1 rec.
| |__autosomal dominant nonsyndromic deafness 47
| |__autosomal dominant nonsyndromic deafness 48
| |__autosomal dominant nonsyndromic deafness 49
| |__autosomal dominant nonsyndromic deafness 50
| |__autosomal dominant nonsyndromic deafness 51
| |__autosomal dominant nonsyndromic deafness 53
| |__autosomal dominant nonsyndromic deafness 54
| |__autosomal dominant nonsyndromic deafness 56 6 rec.
| |__autosomal dominant nonsyndromic deafness 58
| |__autosomal dominant nonsyndromic deafness 59
| |__autosomal dominant nonsyndromic deafness 64
| |__autosomal dominant nonsyndromic deafness 65 1 rec.
| |__autosomal dominant nonsyndromic deafness 66 1 rec.
| |__autosomal dominant nonsyndromic deafness 67 1 rec.
| |__autosomal dominant nonsyndromic deafness 68 1 rec.
| |__autosomal dominant nonsyndromic deafness 69
| |__autosomal dominant nonsyndromic deafness 70 1 rec.
| |__autosomal dominant nonsyndromic deafness 71 1 rec.
| |__autosomal dominant nonsyndromic deafness 72 1 rec.
| |__autosomal dominant nonsyndromic deafness 73 1 rec.
| |__autosomal dominant nonsyndromic deafness 74 1 rec.
| |__autosomal dominant nonsyndromic deafness 75 1 rec.
| |__autosomal dominant nonsyndromic deafness 76 1 rec.
| |__autosomal dominant nonsyndromic deafness 77 1 rec.
| |__autosomal dominant nonsyndromic deafness 78 2 rec.
| |__autosomal dominant nonsyndromic deafness 79 7 rec.
| |__autosomal dominant nonsyndromic deafness 80
| |__autosomal dominant nonsyndromic deafness 81 1 rec.
| |__autosomal dominant nonsyndromic deafness 82 1 rec.
| |__autosomal dominant nonsyndromic deafness 83 1 rec.
| |__autosomal dominant nonsyndromic deafness 84 2 rec.
| |__autosomal dominant nonsyndromic deafness 85 2 rec.
| |__autosomal dominant nonsyndromic deafness 86 1 rec.
| |__autosomal dominant nonsyndromic deafness 87 1 rec.
| |__autosomal dominant nonsyndromic deafness 88 1 rec.
| |__autosomal dominant nonsyndromic deafness 89 3 rec.
| |__autosomal dominant nonsyndromic deafness 90 1 rec.
|__autosomal dominant osteopetrosis 1 2 rec.
|__autosomal dominant osteopetrosis 2 1 rec.
|__autosomal dominant polycystic kidney disease 12 rec.
| |__polycystic kidney disease 1 5 rec.
| |__polycystic kidney disease 2 3 rec.
| |__polycystic kidney disease 3 1 rec.
| |__polycystic kidney disease 6 1 rec.
| |__polycystic kidney disease 7 1 rec.
|__autosomal dominant primary microcephaly 12 rec.
| |__autosomal dominant primary microcephaly 26 2 rec.
| |__autosomal dominant primary microcephaly 27 2 rec.
| |__primary autosomal dominant microcephaly 18 10 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.
| |__severe congenital neutropenia 2 2 rec.
| |__severe congenital neutropenia 8 1 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 tubulointerstitial kidney disease 1
| |__autosomal dominant tubulointerstitial kidney disease 2 1 rec.
| |__autosomal dominant tubulointerstitial kidney disease 4 1 rec.
| |__autosomal dominant tubulointerstitial kidney disease 5 1 rec.
| |__autosomal dominant tubulointerstitial kidney disease 6
| |__renal cysts and diabetes syndrome
|__autosomal dominant vitreoretinochoroidopathy 4 rec.
|__autosomal dominant Wolfram syndrome 1 rec.
|__autosomal dominant woolly hair
|__Axenfeld-Rieger syndrome 2 rec.
| |__Axenfeld-Rieger syndrome type 1 1 rec.
| |__Axenfeld-Rieger syndrome type 2
| |__Axenfeld-Rieger syndrome type 3 1 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.
| |__blepharocheilodontic syndrome 1 1 rec.
| |__blepharocheilodontic syndrome 2 1 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 A1B
| |__brachydactyly type A1C
| |__brachydactyly type A1D 1 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.
| |__branchiootorenal syndrome 1 2 rec.
| |__branchiootorenal syndrome 2 1 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.
| |__X-linked congenital myopathy with fiber-type disproportion
|__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.
| |__ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
| |__ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 focal epilepsy with variable foci 1 4 rec.
| |__familial focal epilepsy with variable foci 2 3 rec.
| |__familial focal epilepsy with variable foci 3 3 rec.
| |__familial focal epilepsy with variable foci 4 1 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 hypocalciuric hypercalcemia 1
| |__familial hypocalciuric hypercalcemia 2 1 rec.
| |__familial hypocalciuric hypercalcemia 3 1 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.
| |__familial glomangioma
| |__skin glomangioma(+)
|__glucose transporter type 1 deficiency syndrome 2 5 rec.
|__gnathodiaphyseal dysplasia 2 rec.
|__granular corneal dystrophy 3 rec.
| |__granular corneal dystrophy 1 3 rec.
| |__granular corneal dystrophy 2 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 angioedema type I 1 rec.
| |__hereditary angioedema type III 1 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.
| |__Li-Fraumeni syndrome 1 2 rec.
| |__Li-Fraumeni syndrome 2 1 rec.
|__lissencephaly 1 1 rec.
|__lissencephaly 3 4 rec.
|__lissencephaly 9 with complex brainstem malformation 1 rec.
|__lissencephaly 10
|__Loeys-Dietz syndrome 6 rec.
| |__Loeys-Dietz syndrome 1 1 rec.
| |__Loeys-Dietz syndrome 2 1 rec.
| |__Loeys-Dietz syndrome 3 1 rec.
| |__Loeys-Dietz syndrome 4 3 rec.
| |__Loeys-Dietz syndrome 5 3 rec.
| |__Loeys-Dietz syndrome 6 1 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.
| |__hereditary nonpolyposis colorectal cancer type 2 1 rec.
| |__hereditary nonpolyposis colorectal cancer type 4 1 rec.
| |__hereditary nonpolyposis colorectal cancer type 5 1 rec.
| |__hereditary nonpolyposis colorectal cancer type 6 1 rec.
| |__hereditary nonpolyposis colorectal cancer type 7 2 rec.
| |__hereditary nonpolyposis colorectal cancer type 8
| |__Lynch syndrome 1 1 rec.
| |__Muir-Torre syndrome 2 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.
| |__maturity-onset diabetes of the young type 1 7 rec.
| |__maturity-onset diabetes of the young type 2 5 rec.
| |__maturity-onset diabetes of the young type 3
| |__maturity-onset diabetes of the young type 4 6 rec.
| |__maturity-onset diabetes of the young type 6 1 rec.
| |__maturity-onset diabetes of the young type 7 1 rec.
| |__maturity-onset diabetes of the young type 8 12 rec.
| |__maturity-onset diabetes of the young type 9 1 rec.
| |__maturity-onset diabetes of the young type 10
| |__maturity-onset diabetes of the young type 11 1 rec.
| |__maturity-onset diabetes of the young type 13 2 rec.
| |__maturity-onset diabetes of the young type 14 1 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
| |__monilethrix 1
| |__monilethrix 2
| |__monilethrix 3
|__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 synostoses syndrome 1
| |__multiple synostoses syndrome 2
| |__multiple synostoses syndrome 3 1 rec.
| |__multiple synostoses syndrome 4
|__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 1(+) 16 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.
| |__Noonan syndrome with multiple lentigines 1 7 rec.
| |__Noonan syndrome with multiple lentigines 2 2 rec.
| |__Noonan syndrome with multiple lentigines 3 1 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.
| |__otosclerosis 1
| |__otosclerosis 2
| |__otosclerosis 3
| |__otosclerosis 4
| |__otosclerosis 5
| |__otosclerosis 7
| |__otosclerosis 8
| |__otosclerosis 10
| |__otosclerosis 11 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.
| |__polycystic liver disease 1 2 rec.
| |__polycystic liver disease 2 1 rec.
| |__polycystic liver disease 3 1 rec.
| |__polycystic liver disease 4 2 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.
| |__autosomal dominant thrombophilia due to protein C deficiency 1 rec.
| |__autosomal recessive thrombophilia due to protein C deficiency 1 rec.
|__proteosome-associated autoinflammatory syndrome 2 1 rec.
|__prothrombin thrombophilia 11 rec.
|__proximal symphalangism
| |__proximal symphalangism 1
| |__proximal symphalangism 2
|__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.
| |__North Carolina macular dystrophy 3 rec.
| |__retinal macular dystrophy 2 3 rec.
| |__retinal macular dystrophy 3
| |__retinal macular dystrophy 4 3 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.
| |__rhabdoid tumor predisposition syndrome 1 1 rec.
| |__rhabdoid tumor predisposition syndrome 2 1 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.
| |__schwannomatosis 1 1 rec.
| |__schwannomatosis 2 1 rec.
| |__vestibular schwannomatosis 2 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 with lower extremity predominant 1 2 rec.
| |__spinal muscular atrophy with lower extremity predominant 2A 5 rec.
| |__spinal muscular atrophy with lower extremity predominant 2B 2 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.
| |__Treacher Collins syndrome 1
| |__Treacher Collins syndrome 2 3 rec.
| |__Treacher Collins syndrome 3 1 rec.
| |__Treacher Collins syndrome 4 1 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.
| |__tuberous sclerosis 1 4 rec.
| |__tuberous sclerosis 2 3 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
| |__Ullrich congenital muscular dystrophy 1A
| |__Ullrich congenital muscular dystrophy 1B
| |__Ullrich congenital muscular dystrophy 1C
| |__Ullrich congenital muscular dystrophy 2
|__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.
| |__Waardenburg syndrome type 1 5 rec.
| |__Waardenburg syndrome type 2A 1 rec.
| |__Waardenburg syndrome type 2B
| |__Waardenburg syndrome type 2C
| |__Waardenburg syndrome type 2E 1 rec.
| |__Waardenburg syndrome type 3 5 rec.
| |__Waardenburg syndrome type 4A
| |__Waardenburg syndrome type 4B
| |__Waardenburg syndrome type 4C 1 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.
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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