Hypotrichosis 14

Preferred Label : Hypotrichosis 14;

Symbol : HYPT14;

CISMeF acronym : HYPT14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lanosterol synthase gene (LSS, 600909.0003);

Prefixed ID : #618275;

Details

Origin ID

618275;

UMLS CUI

C4748930;

Currated CISMeF NLP mapping
- hypotrichosis 14 [DO Concept]
DO Cross reference
- hypotrichosis 14 [DO Concept]
Genes related to phenotype
- Lanosterol synthase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypotrichosis [HPO term]
- Sparse body hair [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Hypotrichosis simplex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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