| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
Ambras syndrome [EXACT] HTC1 [EXACT] |
| Parent Relationships |
is_a hypertrichosis |