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About: Ambras type hypertrichosis universalis congenita     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Ambras type hypertrichosis universalis congenita
described by
id
  • DOID:0111060
database_cross_reference
  • GARD:8206
  • ICD10CM:Q84.2
  • MESH:C536605
  • OMIM:145701
  • ORDO:1023
has_exact_synonym
  • Ambras syndrome (en)
  • HTC1 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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