Microcephaly 7, primary, autosomal recessive

Preferred Label : Microcephaly 7, primary, autosomal recessive;

Symbol : MCPH7;

CISMeF acronym : MCPH7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SCL/TAL1-interrupting locus gene (STIL, 181590.0001);

Prefixed ID : #612703;

Détails

Origin ID

612703;

UMLS CUI

C2675187;

Automatic exact mappings (from CISMeF team)
- STIL centriolar assembly protein [ORDO Gene]
- STIL centriolar assembly protein [HGNC gene]
- STIL wt Allele [NCIt concept]
- microcephaly, primary autosomal recessive, 7 [MeSH concept]
- microcephaly, primary autosomal recessive, 7 [MeSH Supplementary Concept]
- primary autosomal recessive microcephaly 7 [DO Concept]
Broader ORDO disease(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
DO Cross reference
- primary autosomal recessive microcephaly 7 [DO Concept]
Genes related to phenotype
- Scl/tal1-interrupting locus [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [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, 7 [MeSH Supplementary Concept]
- microcephaly, primary autosomal recessive, 7 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive primary microcephaly [ORDO Disease]
- Isolated congenital microcephaly [ORDO Disease]

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