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Metadata
ID DOID:0111060
Name Ambras type hypertrichosis universalis congenita
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/18328202, https://www.ncbi.nlm.nih.gov/pubmed/8275569, https://www.ncbi.nlm.nih.gov/pubmed/9712536
Xrefs

GARD:8206

ICD10CM:Q84.2

MESH:C536605

OMIM:145701

ORDO:1023

Subsets

DO_rare_slim

Synonyms

Ambras syndrome [EXACT]

HTC1 [EXACT]

Parent Relationships

is_a hypertrichosis

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