Rare Disease Library

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant hereditary chronic pancreatitis

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

Autosomal dominant hereditary sensory and autonomic neuropathy

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency · Dominant KATP hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

Autosomal dominant hypocalcemia

AD hypocalcemia

Autosomal dominant hypohidrotic ectodermal dysplasia

AD-HED

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal dominant intermediate Charcot-Marie-Tooth disease

CMTDI

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

CMTDIA

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

CMTDIB

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

CMTDIC

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

CMTDID

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

CMTDIF

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant intermediate CMT disease with neuropathic pain

Autosomal dominant Kenny-Caffey syndrome

Autosomal dominant keratitis

Hereditary keratitis

Autosomal dominant limb-girdle muscular dystrophy

Autosomal dominant limb-girdle muscular dystrophy type 1A

LGMD1A · Limb-girdle muscular dystrophy due to myotilin deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1B

LGMD1B · Limb-girdle muscular dystrophy due to lamin A/C deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1C

LGMD1C · Limb-girdle muscular dystrophy due to caveolin-3 deficiency

Autosomal dominant limb-girdle muscular dystrophy type 1E

LGMD1E

Autosomal dominant macrothrombocytopenia

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal dominant MSMD due to a partial deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

Autosomal dominant MSMD due to partial IFNgammaR1 deficiency · Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal dominant MSMD due to partial IFNgammaR2 deficiency · Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency

Autosomal dominant mitochondrial myopathy with exercise intolerance

Autosomal dominant multiple pterygium syndrome

Distal arthrogryposis type 8

Autosomal dominant myoglobinuria

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome

Autosomal dominant myosin storage myopathy

MSMA

Autosomal dominant neovascular inflammatory vitreoretinopathy

ADNIV

Autosomal dominant non-syndromic intellectual disability

Autosomal dominant omodysplasia

Autosomal dominant optic atrophy

DOA · ADOA

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant optic atrophy and congenital deafness

Konigsmark-Knox-Hussels syndrome · Autosomal dominant optic atrophy and congenital hearing loss

Autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

Autosomal dominant osteopetrosis type 1

Autosomal dominant otospondylomegaepiphyseal dysplasia

AD OSMED · Stickler syndrome type 3

Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia · PPK-CA, Stevanovic type

Autosomal dominant polycystic kidney disease

ADPKD