Ambras type hypertrichosis universalis congenita

Term ID

DOID:0111060

Synonyms

• 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

• GARD:8206
• ICD10CM:Q84.2
• MESH:C536605
• OMIM:145701
• ORDO:1023

Ontology

Human Disease   ( DOID:0111060 )