Hypotrichosis 4

Preferred Label : Hypotrichosis 4;

Symbol : HYPT4;

CISMeF acronym : HYPT4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Marie unna hereditary hypotrichosis 1; Hypotrichosis, marie unna type, 1; MUHH1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the HR lysine demethylase and nuclear receptor corepressor gene (HR, 602302.0013);

Prefixed ID : #146550;

Details

Origin ID

146550;

UMLS CUI

C2750815;

Broader ORDO disease(s)
- Marie Unna hereditary hypotrichosis [ORDO Disease]
Currated CISMeF NLP mapping
- hypotrichosis 4 [DO Concept]
- marie unna hereditary hypotrichosis 1 [MeSH concept]
- marie unna hereditary hypotrichosis 1 [MeSH Supplementary Concept]
DO Cross reference
- hypotrichosis 4 [DO Concept]
Genes related to phenotype
- Hr upstream open reading frame [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hypotrichosis [HPO term]
- Pili torti [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse body hair [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- little or no eyebrows, eyelashes or body hair [HPO term]
ORDO concept(s)
- Marie Unna hereditary hypotrichosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypotrichosis 4 [DO Concept]
- marie unna hereditary hypotrichosis 1 [MeSH Supplementary Concept]
- marie unna hereditary hypotrichosis 1 [MeSH concept]

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