Hypertrichosis universalis congenita, ambras type

Preferred Label : Hypertrichosis universalis congenita, ambras type;

Symbol : HTC1;

CISMeF acronym : HTC1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Ambras syndrome; Hypertrichosis, congenital generalized;

Inheritance : Autosomal dominant;

Prefixed ID : %145701;

Détails

Origin ID

145701;

UMLS CUI

C1840362;

Automatic exact mappings (from CISMeF team)
- Congenital generalised hypertrichosis [ICD-11 More detail]
- Congenital, generalized hypertrichosis [HPO term]
- hypertrichosis 1 (universalis, congenital) [HGNC gene]
- hypertrichosis congenital generalized X-linked [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Ambras syndrome [MeSH concept]
- Ambras type hypertrichosis universalis congenita [DO Concept]
- Congenital generalized hypertrichosis, Ambras type [ORDO Disease]
- ambras syndrome [MeSH Supplementary Concept]
DO Cross reference
- Ambras type hypertrichosis universalis congenita [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital, generalized hypertrichosis [HPO term]
- Persistent generalized hypertrichosis, esp face, ears, and shoulders [HPO term]
ORDO concept(s)
- Congenital generalized hypertrichosis, Ambras type [ORDO Disease]
- Hypertrichosis lanuginosa congenita [ORDO Disease]
See also inter- (CISMeF)
- Congenital generalized hypertrichosis (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ambras syndrome [MeSH concept]
- Ambras type hypertrichosis universalis congenita [DO Concept]
- Congenital generalized hypertrichosis, Ambras type [ORDO Disease]
- ambras syndrome [MeSH Supplementary Concept]

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