Microcephaly 3, primary, autosomal recessive

Preferred Label : Microcephaly 3, primary, autosomal recessive;

Symbol : MCPH3;

CISMeF acronym : MCPH3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the CDK5 regulatory subunit-associated protein 2 gene (CDK5RAP2, 608201.0001);

Prefixed ID : #604804;

Details

Origin ID

604804;

UMLS CUI

C1858108;

Automatic exact mappings (from CISMeF team)
- microcephaly, primary autosomal recessive, 3 [MeSH Supplementary Concept]
- microcephaly, primary autosomal recessive, 3 [MeSH concept]
- primary autosomal recessive microcephaly 3 [DO Concept]
- symbol withdrawn MCPH3 [HGNC gene]
Broader ORDO disease(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
DO Cross reference
- primary autosomal recessive microcephaly 3 [DO Concept]
Genes related to phenotype
- Cdk5 regulatory subunit-associated protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability, moderate [HPO term]
- Microcephaly [HPO term]
- Proptosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [HPO term]
- Small but structurally normal cerebral cortex [HPO term]
- Small cerebral cortex [HPO term]
ORDO concept(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- microcephaly, primary autosomal recessive, 3 [MeSH Supplementary Concept]
- microcephaly, primary autosomal recessive, 3 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive primary microcephaly [ORDO Disease]
- Isolated congenital microcephaly [ORDO Disease]

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