Disease Index
9,486 diseasesautosomal dominant myoglobinuria
MeSH: C563546
autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
human disease
autosomal dominant neovascular inflammatory vitreoretinopathy
human disease
autosomal dominant nocturnal frontal lobe epilepsy
frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations
autosomal dominant non-syndromic intellectual disability
non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern
autosomal dominant non-syndromic intellectual disability 18
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3
autosomal dominant non-syndromic intellectual disability 19
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTNNB1 on chromosome 3p22.1
autosomal dominant non-syndromic intellectual disability 21
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTCF on chromosome 16q22.1
autosomal dominant non-syndromic intellectual disability 23
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SETD5 on chromosome 3p25.3
autosomal dominant non-syndromic intellectual disability 26
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of AUTS2 on chromosome 7q11.22
autosomal dominant non-syndromic intellectual disability 31
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PURA on chromosome 5q31.3
autosomal dominant non-syndromic intellectual disability 32
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of KAT6A on chromosome 8p11.21
autosomal dominant non-syndromic intellectual disability 35
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1
autosomal dominant non-syndromic intellectual disability 36
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R1A on chromosome 19q13.41
autosomal dominant non-syndromic intellectual disability 7
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13
autosomal dominant non-syndromic intellectual disability44
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of TRIO on chromosome 5p15.2
autosomal dominant nonsyndromic deafness
nonsyndromic deafness characterized by an autosomal dominant inheritance mode
autosomal dominant nonsyndromic deafness 22
autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has material basis in mutation in the MYO6 gene on chromosome 6q14
autosomal dominant nonsyndromic deafness 71
human disease
autosomal dominant nonsyndromic deafness 72
human disease
autosomal dominant optic atrophy
autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss
MeSH: D029241
autosomal dominant optic atrophy and cataract
gene (19q13.32).
MeSH: C537128
autosomal dominant optic atrophy and peripheral neuropathy
autosomal dominant optic atrophy plus syndrome
human disease
MeSH: C535351
autosomal dominant osteopetrosis 1
human disease
MeSH: C536056
autosomal dominant osteopetrosis 2
human disease
autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications
Autosomal dominant partial epilepsy with auditory features
medical condition
autosomal dominant polycystic kidney
human disease
ICD: Q61MeSH: D016891
autosomal dominant polycystic kidney disease
congenital disorder of urinary system