monogenic disease
|__autosomal genetic disease
|__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-methylcrotonyl-CoA carboxylase 1 deficiency 1 rec.
| |__3-methylcrotonyl-CoA carboxylase 2 deficiency 2 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 type 7a
| |__3-methylglutaconic aciduria type 7b
|__3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2 rec.
|__3MC syndrome 13 rec.
| |__3MC syndrome 1 2 rec.
| |__3MC syndrome 2 1 rec.
| |__3MC syndrome 3 11 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, renal dysfunction, and cholestasis 1 3 rec.
| |__arthrogryposis, renal dysfunction, and cholestasis 2 2 rec.
|__arthrogryposis multiplex congenita 5 rec.
| |__arthrogryposis multiplex congenita-1
| |__arthrogryposis multiplex congenita-3 1 rec.
| |__arthrogryposis multiplex congenita-4 2 rec.
| |__arthrogryposis multiplex congenita-5 1 rec.
| |__arthrogryposis multiplex congenita-6
| |__neurogenic-type arthrogryposis multiplex congenita-2 1 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.
| |__centronuclear myopathy 2 4 rec.
| |__centronuclear myopathy 5 1 rec.
| |__centronuclear myopathy 6 with fiber-type disproportion 2 rec.
|__autosomal recessive cerebellar ataxia 209 rec.
| |__ataxia telangiectasia 33 rec.
| |__ataxia with oculomotor apraxia type 1 3 rec.
| |__ataxia with oculomotor apraxia type 3
| |__ataxia-oculomotor apraxia type 4 2 rec.
| |__ataxia-telangiectasia-like disorder-1 3 rec.
| |__ataxia-telangiectasia-like disorder-2 2 rec.
| |__autosomal recessive spinocerebellar ataxia 2 1 rec.
| |__autosomal recessive spinocerebellar ataxia 4 5 rec.
| |__autosomal recessive spinocerebellar ataxia 6
| |__autosomal recessive spinocerebellar ataxia 7
| |__autosomal recessive spinocerebellar ataxia 8 1 rec.
| |__autosomal recessive spinocerebellar ataxia 10 1 rec.
| |__autosomal recessive spinocerebellar ataxia 11 1 rec.
| |__autosomal recessive spinocerebellar ataxia 12 1 rec.
| |__autosomal recessive spinocerebellar ataxia 13 2 rec.
| |__autosomal recessive spinocerebellar ataxia 14 3 rec.
| |__autosomal recessive spinocerebellar ataxia 15 1 rec.
| |__autosomal recessive spinocerebellar ataxia 16 1 rec.
| |__autosomal recessive spinocerebellar ataxia 17 1 rec.
| |__autosomal recessive spinocerebellar ataxia 18 14 rec.
| |__autosomal recessive spinocerebellar ataxia 19 1 rec.
| |__autosomal recessive spinocerebellar ataxia 20
| |__autosomal recessive spinocerebellar ataxia 21 7 rec.
| |__autosomal recessive spinocerebellar ataxia 22
| |__autosomal recessive spinocerebellar ataxia 23
| |__autosomal recessive spinocerebellar ataxia 24 3 rec.
| |__autosomal recessive spinocerebellar ataxia 25 2 rec.
| |__autosomal recessive spinocerebellar ataxia 26 1 rec.
| |__autosomal recessive spinocerebellar ataxia 27 4 rec.
| |__autosomal recessive spinocerebellar ataxia 28 1 rec.
| |__autosomal recessive spinocerebellar ataxia 29 1 rec.
| |__autosomal recessive spinocerebellar ataxia 30 1 rec.
| |__autosomal recessive spinocerebellar ataxia 31 1 rec.
| |__autosomal recessive spinocerebellar ataxia 32 3 rec.
| |__autosomal recessive spinocerebellar ataxia 33
| |__autosomal recessive spinocerebellar ataxia 34 7 rec.
| |__Cayman type cerebellar ataxia 1 rec.
| |__Charlevoix-Saguenay spastic ataxia
| |__Friedreich ataxia(+) 85 rec.
| |__spinocerebellar ataxia with axonal neuropathy 1 3 rec.
| |__spinocerebellar ataxia with axonal neuropathy 2 5 rec.
| |__spinocerebellar ataxia with axonal neuropathy type 3 4 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 ichthyosis 1 1 rec.
| |__autosomal recessive congenital ichthyosis 2
| |__autosomal recessive congenital ichthyosis 3
| |__autosomal recessive congenital ichthyosis 4A 1 rec.
| |__autosomal recessive congenital ichthyosis 4B 1 rec.
| |__autosomal recessive congenital ichthyosis 5 10 rec.
| |__autosomal recessive congenital ichthyosis 6 1 rec.
| |__autosomal recessive congenital ichthyosis 7
| |__autosomal recessive congenital ichthyosis 8 19 rec.
| |__autosomal recessive congenital ichthyosis 9 1 rec.
| |__autosomal recessive congenital ichthyosis 10 2 rec.
| |__autosomal recessive congenital ichthyosis 11 3 rec.
| |__autosomal recessive congenital ichthyosis 13 2 rec.
| |__autosomal recessive congenital ichthyosis 14 1 rec.
|__autosomal recessive congenital nystagmus 6 rec.
| |__autosomal recessive congenital nystagmus 8 4 rec.
|__autosomal recessive craniometaphyseal dysplasia
|__autosomal recessive cutis laxa type I 2 rec.
| |__autosomal recessive cutis laxa type IA
| |__autosomal recessive cutis laxa type IB 1 rec.
| |__autosomal recessive cutis laxa type IC 1 rec.
|__autosomal recessive cutis laxa type II classic type 9 rec.
| |__autosomal recessive cutis laxa type IIA 5 rec.
| |__autosomal recessive cutis laxa type IIC 1 rec.
| |__autosomal recessive cutis laxa type IID 3 rec.
|__autosomal recessive cutis laxa type IIB 2 rec.
|__autosomal recessive cutis laxa type III 3 rec.
| |__autosomal recessive cutis laxa type IIIA 1 rec.
| |__autosomal recessive cutis laxa type IIIB 2 rec.
|__autosomal recessive distal hereditary motor neuronopathy 14 rec.
| |__autosomal recessive distal hereditary motor neuronopathy 1 1 rec.
| |__autosomal recessive distal hereditary motor neuronopathy 2
| |__autosomal recessive distal hereditary motor neuronopathy 3
| |__autosomal recessive distal hereditary motor neuronopathy 4 1 rec.
| |__autosomal recessive distal hereditary motor neuronopathy 5 1 rec.
| |__autosomal recessive distal hereditary motor neuronopathy 6 1 rec.
| |__autosomal recessive distal hereditary motor neuronopathy 7
| |__autosomal recessive distal hereditary motor neuronopathy 8 7 rec.
| |__autosomal recessive distal hereditary motor neuronopathy 9 1 rec.
| |__autosomal recessive distal hereditary motor neuronopathy 10 2 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 intellectual developmental disorder 1 1 rec.
| |__autosomal recessive intellectual developmental disorder 2 2 rec.
| |__autosomal recessive intellectual developmental disorder 3 2 rec.
| |__autosomal recessive intellectual developmental disorder 4
| |__autosomal recessive intellectual developmental disorder 5 10 rec.
| |__autosomal recessive intellectual developmental disorder 6 1 rec.
| |__autosomal recessive intellectual developmental disorder 7 1 rec.
| |__autosomal recessive intellectual developmental disorder 9/26
| |__autosomal recessive intellectual developmental disorder 10/20
| |__autosomal recessive intellectual developmental disorder 11
| |__autosomal recessive intellectual developmental disorder 12
| |__autosomal recessive intellectual developmental disorder 13 1 rec.
| |__autosomal recessive intellectual developmental disorder 14 1 rec.
| |__autosomal recessive intellectual developmental disorder 16
| |__autosomal recessive intellectual developmental disorder 18 1 rec.
| |__autosomal recessive intellectual developmental disorder 23
| |__autosomal recessive intellectual developmental disorder 24
| |__autosomal recessive intellectual developmental disorder 25
| |__autosomal recessive intellectual developmental disorder 27 1 rec.
| |__autosomal recessive intellectual developmental disorder 28
| |__autosomal recessive intellectual developmental disorder 29
| |__autosomal recessive intellectual developmental disorder 30
| |__autosomal recessive intellectual developmental disorder 31
| |__autosomal recessive intellectual developmental disorder 33
| |__autosomal recessive intellectual developmental disorder 34
| |__autosomal recessive intellectual developmental disorder 35
| |__autosomal recessive intellectual developmental disorder 37 3 rec.
| |__autosomal recessive intellectual developmental disorder 38 1 rec.
| |__autosomal recessive intellectual developmental disorder 39
| |__autosomal recessive intellectual developmental disorder 40 1 rec.
| |__autosomal recessive intellectual developmental disorder 41
| |__autosomal recessive intellectual developmental disorder 43 1 rec.
| |__autosomal recessive intellectual developmental disorder 44 1 rec.
| |__autosomal recessive intellectual developmental disorder 45
| |__autosomal recessive intellectual developmental disorder 46 2 rec.
| |__autosomal recessive intellectual developmental disorder 47 1 rec.
| |__autosomal recessive intellectual developmental disorder 48 3 rec.
| |__autosomal recessive intellectual developmental disorder 50 1 rec.
| |__autosomal recessive intellectual developmental disorder 51
| |__autosomal recessive intellectual developmental disorder 52 1 rec.
| |__autosomal recessive intellectual developmental disorder 54 1 rec.
| |__autosomal recessive intellectual developmental disorder 56 9 rec.
| |__autosomal recessive intellectual developmental disorder 57 1 rec.
| |__autosomal recessive intellectual developmental disorder 58 1 rec.
| |__autosomal recessive intellectual developmental disorder 59 5 rec.
| |__autosomal recessive intellectual developmental disorder 60 1 rec.
| |__autosomal recessive intellectual developmental disorder 61
| |__autosomal recessive intellectual developmental disorder 63 1 rec.
| |__autosomal recessive intellectual developmental disorder 64 1 rec.
| |__autosomal recessive intellectual developmental disorder 65 2 rec.
| |__autosomal recessive intellectual developmental disorder 66 1 rec.
| |__autosomal recessive intellectual developmental disorder 67 2 rec.
| |__autosomal recessive intellectual developmental disorder 68 1 rec.
| |__autosomal recessive intellectual developmental disorder 69 2 rec.
| |__autosomal recessive intellectual developmental disorder 70 1 rec.
| |__autosomal recessive intellectual developmental disorder 71 2 rec.
| |__autosomal recessive intellectual developmental disorder 72 1 rec.
| |__autosomal recessive intellectual developmental disorder 73 3 rec.
| |__autosomal recessive intellectual developmental disorder 74 2 rec.
| |__autosomal recessive intellectual developmental disorder 75
| |__autosomal recessive intellectual developmental disorder 76 17 rec.
| |__autosomal recessive intellectual developmental disorder 77 1 rec.
| |__autosomal recessive intellectual developmental disorder 82 2 rec.
| |__autosomal recessive intellectual developmental disorder 83
| |__Brunet-Wagner neurodevelopmental syndrome 3 rec.
| |__early onset progressive encephalopathy with brain atrophy and thin corpus callosum 8 rec.
| |__glycosylphosphatidylinositol biosynthesis defect 16 1 rec.
| |__hyperphosphatasia with impaired intellectual development syndrome(+) 8 rec.
| |__infantile hypotonia with psychomotor retardation and characteristic facies-3 1 rec.
| |__intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 4 rec.
| |__Kariminejad neurodevelopmental syndrome 1 rec.
| |__neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 1 rec.
| |__neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 3 rec.
| |__neurodevelopmental disorder with language delay and seizures 12 rec.
| |__neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 1 rec.
| |__neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 3 rec.
| |__neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 3 rec.
| |__neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 9 rec.
| |__neurodevelopmental disorder with poor growth and behavioral abnormalities 1 rec.
| |__neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 5 rec.
| |__neurodevelopmental disorder with spastic paraplegia and microcephaly 1 rec.
| |__neurodevelopmental disorder with spasticity and poor growth 3 rec.
| |__Rafiq syndrome 1 rec.
| |__spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1 rec.
|__autosomal recessive isolated ectopia lentis 2 1 rec.
|__autosomal recessive limb-girdle muscular dystrophy 55 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2A 3 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2B 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2C 2 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2D 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2E 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2F 3 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2G
| |__autosomal recessive limb-girdle muscular dystrophy type 2H 5 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2I 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2J 3 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2K 2 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2L 2 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2M
| |__autosomal recessive limb-girdle muscular dystrophy type 2N 2 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2O 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2P 2 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2Q 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2S 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2T 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2U
| |__autosomal recessive limb-girdle muscular dystrophy type 2W 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2X 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 2Y
| |__autosomal recessive limb-girdle muscular dystrophy type 2Z 3 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 23 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 26 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 27 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 28 1 rec.
| |__autosomal recessive limb-girdle muscular dystrophy type 29 2 rec.
|__autosomal recessive nonsyndromic deafness 79 rec.
| |__autosomal recessive nonsyndromic deafness 1A
| |__autosomal recessive nonsyndromic deafness 1B
| |__autosomal recessive nonsyndromic deafness 2 8 rec.
| |__autosomal recessive nonsyndromic deafness 3 1 rec.
| |__autosomal recessive nonsyndromic deafness 4 8 rec.
| |__autosomal recessive nonsyndromic deafness 5
| |__autosomal recessive nonsyndromic deafness 6 1 rec.
| |__autosomal recessive nonsyndromic deafness 7 1 rec.
| |__autosomal recessive nonsyndromic deafness 8 2 rec.
| |__autosomal recessive nonsyndromic deafness 9 1 rec.
| |__autosomal recessive nonsyndromic deafness 12 1 rec.
| |__autosomal recessive nonsyndromic deafness 13
| |__autosomal recessive nonsyndromic deafness 14
| |__autosomal recessive nonsyndromic deafness 15 1 rec.
| |__autosomal recessive nonsyndromic deafness 16
| |__autosomal recessive nonsyndromic deafness 17
| |__autosomal recessive nonsyndromic deafness 18A 1 rec.
| |__autosomal recessive nonsyndromic deafness 18B 1 rec.
| |__autosomal recessive nonsyndromic deafness 20
| |__autosomal recessive nonsyndromic deafness 21 1 rec.
| |__autosomal recessive nonsyndromic deafness 22
| |__autosomal recessive nonsyndromic deafness 23 1 rec.
| |__autosomal recessive nonsyndromic deafness 24 1 rec.
| |__autosomal recessive nonsyndromic deafness 25 2 rec.
| |__autosomal recessive nonsyndromic deafness 26 1 rec.
| |__autosomal recessive nonsyndromic deafness 27
| |__autosomal recessive nonsyndromic deafness 28 1 rec.
| |__autosomal recessive nonsyndromic deafness 29
| |__autosomal recessive nonsyndromic deafness 30 1 rec.
| |__autosomal recessive nonsyndromic deafness 31 1 rec.
| |__autosomal recessive nonsyndromic deafness 32 1 rec.
| |__autosomal recessive nonsyndromic deafness 33
| |__autosomal recessive nonsyndromic deafness 35 1 rec.
| |__autosomal recessive nonsyndromic deafness 36 3 rec.
| |__autosomal recessive nonsyndromic deafness 37 1 rec.
| |__autosomal recessive nonsyndromic deafness 38
| |__autosomal recessive nonsyndromic deafness 39
| |__autosomal recessive nonsyndromic deafness 40
| |__autosomal recessive nonsyndromic deafness 42
| |__autosomal recessive nonsyndromic deafness 44 1 rec.
| |__autosomal recessive nonsyndromic deafness 45
| |__autosomal recessive nonsyndromic deafness 46
| |__autosomal recessive nonsyndromic deafness 47
| |__autosomal recessive nonsyndromic deafness 48 1 rec.
| |__autosomal recessive nonsyndromic deafness 49 1 rec.
| |__autosomal recessive nonsyndromic deafness 51
| |__autosomal recessive nonsyndromic deafness 53
| |__autosomal recessive nonsyndromic deafness 55
| |__autosomal recessive nonsyndromic deafness 57 2 rec.
| |__autosomal recessive nonsyndromic deafness 59
| |__autosomal recessive nonsyndromic deafness 61 1 rec.
| |__autosomal recessive nonsyndromic deafness 62
| |__autosomal recessive nonsyndromic deafness 63
| |__autosomal recessive nonsyndromic deafness 65
| |__autosomal recessive nonsyndromic deafness 66
| |__autosomal recessive nonsyndromic deafness 67 3 rec.
| |__autosomal recessive nonsyndromic deafness 68
| |__autosomal recessive nonsyndromic deafness 70 1 rec.
| |__autosomal recessive nonsyndromic deafness 71
| |__autosomal recessive nonsyndromic deafness 74 1 rec.
| |__autosomal recessive nonsyndromic deafness 76
| |__autosomal recessive nonsyndromic deafness 77
| |__autosomal recessive nonsyndromic deafness 79
| |__autosomal recessive nonsyndromic deafness 83
| |__autosomal recessive nonsyndromic deafness 84A 1 rec.
| |__autosomal recessive nonsyndromic deafness 84B 1 rec.
| |__autosomal recessive nonsyndromic deafness 85
| |__autosomal recessive nonsyndromic deafness 86 1 rec.
| |__autosomal recessive nonsyndromic deafness 88 1 rec.
| |__autosomal recessive nonsyndromic deafness 89 1 rec.
| |__autosomal recessive nonsyndromic deafness 91 4 rec.
| |__autosomal recessive nonsyndromic deafness 93
| |__autosomal recessive nonsyndromic deafness 94 1 rec.
| |__autosomal recessive nonsyndromic deafness 96
| |__autosomal recessive nonsyndromic deafness 97
| |__autosomal recessive nonsyndromic deafness 98 1 rec.
| |__autosomal recessive nonsyndromic deafness 99 1 rec.
| |__autosomal recessive nonsyndromic deafness 100 1 rec.
| |__autosomal recessive nonsyndromic deafness 101 2 rec.
| |__autosomal recessive nonsyndromic deafness 102 1 rec.
| |__autosomal recessive nonsyndromic deafness 103 1 rec.
| |__autosomal recessive nonsyndromic deafness 104
| |__autosomal recessive nonsyndromic deafness 106 2 rec.
| |__autosomal recessive nonsyndromic deafness 107 1 rec.
| |__autosomal recessive nonsyndromic deafness 108 1 rec.
| |__autosomal recessive nonsyndromic deafness 109 1 rec.
| |__autosomal recessive nonsyndromic deafness 110
| |__autosomal recessive nonsyndromic deafness 111
| |__autosomal recessive nonsyndromic deafness 112 1 rec.
| |__autosomal recessive nonsyndromic deafness 113
| |__autosomal recessive nonsyndromic deafness 114 8 rec.
| |__autosomal recessive nonsyndromic deafness 115 1 rec.
| |__autosomal recessive nonsyndromic deafness 116
| |__autosomal recessive nonsyndromic deafness 125 1 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.
| |__polycystic kidney disease 4
| |__polycystic kidney disease 5 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.
| |__Bardet-Biedl syndrome 1 4 rec.
| |__Bardet-Biedl syndrome 2
| |__Bardet-Biedl syndrome 3 2 rec.
| |__Bardet-Biedl syndrome 4 1 rec.
| |__Bardet-Biedl syndrome 5 1 rec.
| |__Bardet-Biedl syndrome 6
| |__Bardet-Biedl syndrome 7
| |__Bardet-Biedl syndrome 8 1 rec.
| |__Bardet-Biedl syndrome 9 1 rec.
| |__Bardet-Biedl syndrome 10
| |__Bardet-Biedl syndrome 11
| |__Bardet-Biedl syndrome 12
| |__Bardet-Biedl syndrome 13 1 rec.
| |__Bardet-Biedl syndrome 14 2 rec.
| |__Bardet-Biedl syndrome 15 1 rec.
| |__Bardet-Biedl syndrome 16 1 rec.
| |__Bardet-Biedl syndrome 17
| |__Bardet-Biedl syndrome 18 1 rec.
| |__Bardet-Biedl syndrome 19
| |__Bardet-Biedl syndrome 20 1 rec.
| |__Bardet-Biedl syndrome 21
| |__Bardet-Biedl syndrome 22
|__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.
| |__Bernard-Soulier syndrome type A2 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.
| |__bradyopsia 1 1 rec.
| |__bradyopsia 2
|__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 ataxia, impaired intellectual development, and dysequilibrium syndrome 1 2 rec.
| |__cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 1 rec.
| |__cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 1 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.
| |__cerebrooculofacioskeletal syndrome(+) 3 rec.
| |__Cockayne syndrome A
| |__Cockayne syndrome B
|__CODAS syndrome 5 rec.
|__Cohen syndrome 1 rec.
|__cold-induced sweating syndrome 6 rec.
| |__cold-induced sweating syndrome 1
| |__cold-induced sweating syndrome 2
| |__cold-induced sweating syndrome 3 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.
| |__common variable immunodeficiency 1
| |__common variable immunodeficiency 2
| |__common variable immunodeficiency 3
| |__common variable immunodeficiency 4
| |__common variable immunodeficiency 5
| |__common variable immunodeficiency 6 4 rec.
| |__common variable immunodeficiency 7 1 rec.
| |__common variable immunodeficiency 8 1 rec.
| |__common variable immunodeficiency 10 1 rec.
| |__common variable immunodeficiency 11
| |__common variable immunodeficiency 12 1 rec.
| |__common variable immunodeficiency 13 1 rec.
| |__common variable immunodeficiency 14 1 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 amegakaryocytic thrombocytopenia 1
| |__congenital amegakaryocytic thrombocytopenia 2
|__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 generalized lipodystrophy type 1 2 rec.
| |__congenital generalized lipodystrophy type 2 2 rec.
| |__congenital generalized lipodystrophy type 3
| |__congenital generalized lipodystrophy type 4
|__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 muscular dystrophy-dystroglycanopathy type A1 5 rec.
| |__congenital muscular dystrophy-dystroglycanopathy type A2 2 rec.
| |__congenital muscular dystrophy-dystroglycanopathy type A3 1 rec.
| |__congenital muscular dystrophy-dystroglycanopathy type A5 1 rec.
| |__congenital muscular dystrophy-dystroglycanopathy type A6 3 rec.
| |__congenital muscular dystrophy-dystroglycanopathy type A7
| |__congenital muscular dystrophy-dystroglycanopathy type A8
| |__congenital muscular dystrophy-dystroglycanopathy type A9 2 rec.
| |__congenital muscular dystrophy-dystroglycanopathy type A10
| |__congenital muscular dystrophy-dystroglycanopathy type A11 1 rec.
| |__congenital muscular dystrophy-dystroglycanopathy type A12
| |__congenital muscular dystrophy-dystroglycanopathy type A13 4 rec.
| |__congenital muscular dystrophy-dystroglycanopathy type A14 1 rec.
| |__Fukuyama congenital muscular dystrophy
|__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.
| |__cranioectodermal dysplasia 1 1 rec.
| |__cranioectodermal dysplasia 2 1 rec.
| |__cranioectodermal dysplasia 3 1 rec.
| |__cranioectodermal dysplasia 4 1 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.
| |__diphthamide deficiency syndrome 1 1 rec.
| |__diphthamide deficiency syndrome 2 1 rec.
| |__neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 1 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.
| |__Smith-McCort dysplasia(+) 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.
| |__Fraser syndrome 1 3 rec.
| |__Fraser syndrome 2 1 rec.
| |__Fraser syndrome 3 1 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.
| |__GM1 gangliosidosis(+) 2 rec.
| |__GM2 gangliosidosis(+) 3 rec.
|__GAPO syndrome
|__Gaucher's disease type III 2 rec.
| |__Gaucher's disease type IIIC 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.
| |__glycine encephalopathy 1 1 rec.
| |__glycine encephalopathy 2 1 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.
| |__Griscelli syndrome type 1 2 rec.
| |__Griscelli syndrome type 2 1 rec.
| |__Griscelli syndrome type 3
|__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.
| |__Hermansky-Pudlak syndrome 1 1 rec.
| |__Hermansky-Pudlak syndrome 2 2 rec.
| |__Hermansky-Pudlak syndrome 3 1 rec.
| |__Hermansky-Pudlak syndrome 4 2 rec.
| |__Hermansky-Pudlak syndrome 5 2 rec.
| |__Hermansky-Pudlak syndrome 6
| |__Hermansky-Pudlak syndrome 7 3 rec.
| |__Hermansky-Pudlak syndrome 8 1 rec.
| |__Hermansky-Pudlak syndrome 9 6 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.
| |__hydrolethalus syndrome 1
| |__hydrolethalus syndrome 2 2 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.
| |__immunodeficiency-centromeric instability-facial anomalies syndrome 1
| |__immunodeficiency-centromeric instability-facial anomalies syndrome 2 1 rec.
| |__immunodeficiency-centromeric instability-facial anomalies syndrome 3
| |__immunodeficiency-centromeric instability-facial anomalies syndrome 4 1 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.
| |__atrophoderma vermiculata
| |__keratosis follicularis spinulosa decalvans(+) 1 rec.
| |__keratosis pilaris atrophicans faciei
|__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.
| |__lethal congenital contracture syndrome 1 1 rec.
| |__lethal congenital contracture syndrome 2 1 rec.
| |__lethal congenital contracture syndrome 3 2 rec.
| |__lethal congenital contracture syndrome 4
|__leukocyte adhesion deficiency 3 rec.
| |__leukocyte adhesion deficiency 1 1 rec.
| |__leukocyte adhesion deficiency 2
| |__leukocyte adhesion deficiency 3 2 rec.
|__leukoencephalopathy with vanishing white matter 5 rec.
| |__leukoencephalopathy with vanishing white matter 1 1 rec.
| |__leukoencephalopathy with vanishing white matter 2 1 rec.
| |__leukoencephalopathy with vanishing white matter 3 1 rec.
| |__leukoencephalopathy with vanishing white matter 4 1 rec.
| |__leukoencephalopathy with vanishing white matter 5 1 rec.
|__Leydig cell hypoplasia 1 rec.
| |__Leydig cell hypoplasia type I 1 rec.
| |__Leydig cell hypoplasia type II
|__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.
| |__cholesterol ester storage disease 21 rec.
| |__Wolman disease 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.
| |__mitochondrial trifunctional protein deficiency 1 2 rec.
| |__mitochondrial trifunctional protein deficiency 2 2 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.
| |__nephronophthisis 1
| |__nephronophthisis 2
| |__nephronophthisis 3
| |__nephronophthisis 4
| |__nephronophthisis 7 1 rec.
| |__nephronophthisis 9 1 rec.
| |__nephronophthisis 11 1 rec.
| |__nephronophthisis 12
| |__nephronophthisis 13 1 rec.
| |__nephronophthisis 14 1 rec.
| |__nephronophthisis 15 1 rec.
| |__nephronophthisis 16 1 rec.
| |__nephronophthisis 18
| |__nephronophthisis 19
| |__nephronophthisis 20 1 rec.
| |__nephronophthisis-like nephropathy 1 2 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.
| |__oculocutaneous albinism type IA
| |__oculocutaneous albinism type IB
| |__oculocutaneous albinism type II 5 rec.
| |__oculocutaneous albinism type III
| |__oculocutaneous albinism type IV 2 rec.
| |__oculocutaneous albinism type V
| |__oculocutaneous albinism type VI 2 rec.
| |__oculocutaneous albinism type VII 1 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.
| |__peeling skin syndrome 1
| |__peeling skin syndrome 2 1 rec.
| |__peeling skin syndrome 3
| |__peeling skin syndrome 4
| |__peeling skin syndrome 5 4 rec.
| |__peeling skin syndrome 6
|__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.
| |__Perrault syndrome 2 1 rec.
| |__Perrault syndrome 6 1 rec.
| |__Perrault syndrome 7 1 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
| |__poor metabolism of thiopurines 1
| |__poor metabolism of thiopurines 2
|__postaxial acrofacial dysostosis 1 rec.
|__preaxial polydactyly I 1 rec.
|__primary autosomal recessive microcephaly 68 rec.
| |__primary autosomal recessive microcephaly 1 2 rec.
| |__primary autosomal recessive microcephaly 2 with or without cortical malformations 6 rec.
| |__primary autosomal recessive microcephaly 3 2 rec.
| |__primary autosomal recessive microcephaly 4
| |__primary autosomal recessive microcephaly 5 14 rec.
| |__primary autosomal recessive microcephaly 6 4 rec.
| |__primary autosomal recessive microcephaly 7
| |__primary autosomal recessive microcephaly 8 1 rec.
| |__primary autosomal recessive microcephaly 9
| |__primary autosomal recessive microcephaly 10 4 rec.
| |__primary autosomal recessive microcephaly 11 2 rec.
| |__primary autosomal recessive microcephaly 12 1 rec.
| |__primary autosomal recessive microcephaly 13 2 rec.
| |__primary autosomal recessive microcephaly 14 1 rec.
| |__primary autosomal recessive microcephaly 15
| |__primary autosomal recessive microcephaly 16 18 rec.
| |__primary autosomal recessive microcephaly 17 2 rec.
| |__primary autosomal recessive microcephaly 19 1 rec.
| |__primary autosomal recessive microcephaly 20 1 rec.
| |__primary autosomal recessive microcephaly 21 1 rec.
| |__primary autosomal recessive microcephaly 22 1 rec.
| |__primary autosomal recessive microcephaly 23 1 rec.
| |__primary autosomal recessive microcephaly 24 1 rec.
| |__primary autosomal recessive microcephaly 25
| |__primary autosomal recessive microcephaly 28 1 rec.
| |__primary autosomal recessive microcephaly 29 1 rec.
| |__primary autosomal recessive microcephaly 30 2 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.
| |__early-onset vitamin B6-dependent epilepsy 1 1 rec.
| |__early-onset vitamin B6-dependent epilepsy 4 1 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.
| |__rhizomelic chondrodysplasia punctata type 1 1 rec.
| |__rhizomelic chondrodysplasia punctata type 2 1 rec.
| |__rhizomelic chondrodysplasia punctata type 3 1 rec.
| |__rhizomelic chondrodysplasia punctata type 5 1 rec.
| |__rhizomelic chondrodysplasia punctate type 4 11 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.
| |__Kanzaki disease 2 rec.
| |__Schindler disease type 1 2 rec.
| |__Schindler disease type 3
|__Schinzel type phocomelia 1 rec.
|__Schwartz-Jampel syndrome 1 1 rec.
|__sclerosteosis 1
|__sclerosteosis 2 2 rec.
|__Seckel syndrome 24 rec.
| |__Seckel syndrome 1 1 rec.
| |__Seckel syndrome 2
| |__Seckel syndrome 4 1 rec.
| |__Seckel syndrome 5
| |__Seckel syndrome 6
| |__Seckel syndrome 7 1 rec.
| |__Seckel syndrome 8 1 rec.
| |__Seckel syndrome 9 15 rec.
| |__Seckel syndrome 10 4 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.
| |__sitosterolemia 1 6 rec.
| |__sitosterolemia 2 2 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.
| |__alpha thalassemia(+) 3 rec.
| |__beta thalassemia(+) 1 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.
| |__trichohepatoenteric syndrome 1 1 rec.
| |__trichohepatoenteric syndrome 2 1 rec.
|__trimethylaminuria 2 rec.
|__triple-A syndrome 2 rec.
|__Troyer syndrome 14 rec.
|__Tukel syndrome
|__Ullrich congenital muscular dystrophy
| |__Ullrich congenital muscular dystrophy 1A
| |__Ullrich congenital muscular dystrophy 1B
| |__Ullrich congenital muscular dystrophy 1C
| |__Ullrich congenital muscular dystrophy 2
|__urocanase deficiency
|__urofacial syndrome 2 rec.
|__Usher syndrome 13 rec.
| |__retinitis pigmentosa-deafness syndrome
| |__Usher syndrome type 1(+) 8 rec.
| |__Usher syndrome type 2(+) 2 rec.
| |__Usher syndrome type 3(+) 2 rec.
|__UV-sensitive syndrome
|__Van den Ende-Gupta syndrome
|__Van Maldergem syndrome 7 rec.
| |__Van Maldergem syndrome 1 2 rec.
| |__Van Maldergem syndrome 2 6 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.
| |__Warburg micro syndrome 1 1 rec.
| |__Warburg micro syndrome 2 2 rec.
| |__Warburg micro syndrome 3 1 rec.
| |__Warburg micro syndrome 4 1 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.
| |__xanthinuria type I 6 rec.
| |__xanthinuria type II 1 rec.
|__xeroderma pigmentosum 23 rec.
| |__De Sanctis-Cacchione syndrome
| |__xeroderma pigmentosum group A 1 rec.
| |__xeroderma pigmentosum group B 2 rec.
| |__xeroderma pigmentosum group C 1 rec.
| |__xeroderma pigmentosum group D 2 rec.
| |__xeroderma pigmentosum group E
| |__xeroderma pigmentosum group F 1 rec.
| |__xeroderma pigmentosum group G 1 rec.
| |__xeroderma pigmentosum variant type 2 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.
|__peroxisome biogenesis disorder 1A 4 rec.
|__peroxisome biogenesis disorder 2A 8 rec.
|__peroxisome biogenesis disorder 3A 2 rec.
|__peroxisome biogenesis disorder 4A 2 rec.
|__peroxisome biogenesis disorder 5A 4 rec.
|__peroxisome biogenesis disorder 6A 2 rec.
|__peroxisome biogenesis disorder 7A
|__peroxisome biogenesis disorder 8A 5 rec.
|__peroxisome biogenesis disorder 10A 3 rec.
|__peroxisome biogenesis disorder 11A 3 rec.
|__peroxisome biogenesis disorder 12A 3 rec.
|__peroxisome biogenesis disorder 13A 3 rec.
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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