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Human Disease
Ambras type hypertrichosis universalis congenita
- Term ID
- DOID:0111060
- Synonyms
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- Ambras syndrome
- HTC1
- 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. (3)
- References
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- GARD:8206
- ICD10CM:Q84.2
- MESH:C536605
- MIM:145701
- ORDO:1023
- Ontology
- Human Disease ( DOID:0111060 )
- is a type of
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Genes Involved
Zebrafish Models