DISEASES

Disease-gene associations mined from literature

Human genes for Ambras type hypertrichosis universalis congenita

Ambras type hypertrichosis universalis congenita [DOID:0111060]

A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material_basis_in chromosomal abnormalities in the region 8q22.

Synonyms:  Ambras type hypertrichosis universalis congenita,  Ambras type hypertrichosis universalis congenitas,  DOID:0111060,  Ambras syndrome,  HTC1 ...