Alopecia universalis congenita

Preferred Label : Alopecia universalis congenita;

Symbol : ALUNC;

CISMeF acronym : ALUNC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atrichia, generalized;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HR lysine demethylase and nuclear receptor corepressor gene (HR, 602302.0002);

Prefixed ID : #203655;

Details

Origin ID

203655;

UMLS CUI

C1859877;

Automatic exact mappings (from CISMeF team)
- Atrichia congenita [ICD-11 More detail]
- symbol withdrawn ALUNC [HGNC gene]
Currated CISMeF NLP mapping
- Alopecia universalis [ICD-11 More detail]
- Alopecia universalis [MeSH concept]
- Alopecia universalis [ORDO Disease]
- Alopecia universalis [MedDRA Preferred Term]
- Alopecia universalis (disorder) [SNOMED CT concept]
- alopecia universalis [DO Concept]
- alopecia universalis [MeSH Supplementary Concept]
- alopecia universalis congenita [MeSH concept]
DO Cross reference
- alopecia universalis [DO Concept]
Genes related to phenotype
- Hr lysine demethylase and nuclear receptor corepressor [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Alopecia [HPO term]
- Alopecia universalis [HPO term]
- Autosomal recessive inheritance [HPO term]
ORDO concept(s)
- Alopecia universalis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- alopecia universalis congenita [MeSH concept]

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