Disease Index
9,486 diseasesautosomal dominant hyperinsulinism due to SUR1 deficiency
autosomal dominant hypocalcemia
calcium metabolism disease characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone
MeSH: C562783
autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal dominant form of hypohidrotic ectodermal dysplasia
autosomal dominant hypophosphatemic rickets
rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has material basis in autosomal dominant inheritance
ICD: E83.3MeSH: C562791
autosomal dominant intermediate Charcot-Marie-Tooth disease
Autosomal dominant form of intermediate Charcot-Marie-tooth disease
autosomal dominant intermediate Charcot-Marie-tooth disease with neuropathic pain
human disease
autosomal dominant isolated diffuse palmoplantar keratoderma
Autosomal dominant form of isolated diffuse palmoplantar keratoderma
autosomal dominant Kenny-Caffey syndrome
human disease
autosomal dominant keratitis
Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia
MeSH: C537022
autosomal dominant keratitis-ichthyosis-deafness syndrome
autosomal dominant disease characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has material basis in heterozygous mutation in the GJB2 gene on chromosome 13q
autosomal dominant limb-girdle muscular dystrophy
limb-girdle muscular dystrophy that has material basis in autosomal dominant inheritance
autosomal dominant limb-girdle muscular dystrophy type 1
autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36
autosomal dominant limb-girdle muscular dystrophy type 1D
autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36
autosomal dominant limb-girdle muscular dystrophy type 1E
autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36
autosomal dominant limb-girdle muscular dystrophy type 1F
autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the TNPO3 gene on chromosome 7q32
MeSH: C564242
autosomal dominant limb-girdle muscular dystrophy type 1G
autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the HNRNPDL gene on chromosome 4q21
MeSH: C563794
autosomal dominant limb-girdle muscular dystrophy type 1H
autosomal dominant limb-girdle muscular dystrophy that has material basis in with variation in the region 3p25.1-p23
autosomal dominant macrothrombocytopenia TUBB1-related
thrombocytopenia characterized by autosomal dominant inheritance of macrothrombocytopenia with normal platelet aggregation that has material basis in mutation in the TUBB1 gene on chromosome 20q13.3
MeSH: C567747
autosomal dominant medullary cystic kidney disease with hyperuricemia
human disease
autosomal dominant medullary cystic kidney disease without hyperuricemia
human disease
autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
human disease
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
human disease
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
autosomal dominant mental retardation 47
human disease
autosomal dominant mental retardation 48
human disease
autosomal dominant mental retardation 53
human disease
autosomal dominant mental retardation 54
human disease
autosomal dominant mental retardation 55
human disease
autosomal dominant mental retardation 56
human disease
autosomal dominant mitochondrial myopathy with exercise intolerance
human disease