Microcephaly 11, primary, autosomal recessive

Preferred Label : Microcephaly 11, primary, autosomal recessive;

Symbol : MCPH11;

CISMeF acronym : MCPH11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polyhomeotic-like 1 gene (PHC1, 602978.0001);

Prefixed ID : #615414;

Details

Origin ID

615414;

UMLS CUI

C3809431;

Automatic exact mappings (from CISMeF team)
- primary autosomal recessive microcephaly 11 [DO Concept]
DO Cross reference
- primary autosomal recessive microcephaly 11 [DO Concept]
Genes related to phenotype
- Polyhomeotic homolog 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Microcephaly [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal recessive primary microcephaly [ORDO Disease]

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