autosomal dominant disease

Findings

No curated finding names autosomal dominant disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal genetic disease

Narrower terms (195)

• acroosteolysis dominant type
• ADULT syndrome
• amelogenesis imperfecta type 1B
• autosomal dominant Aarskog syndrome
• autosomal dominant Alport syndrome
• autosomal dominant brachyolmia
• autosomal dominant centronuclear myopathy
• autosomal dominant chondrodysplasia punctata
• autosomal dominant Ehlers-Danlos syndrome, vascular type
• autosomal dominant ichthyosis vulgaris
• autosomal dominant Kenny-Caffey syndrome
• autosomal dominant keratitis
• autosomal dominant keratitis-ichthyosis-hearing loss syndrome
• autosomal dominant myoglobinuria
• autosomal dominant omodysplasia
• autosomal dominant polycystic kidney disease
• autosomal dominant polycystic liver disease
• autosomal dominant popliteal pterygium syndrome
• autosomal dominant primary microcephaly

Resolves to: autosomal dominant disease

Also called

autosomal dominant disease or disorderautosomal dominant hereditary disorderautosomal dominant inherited disorderdisease or disorder, autosomal dominantdisease, autosomal dominant