Microcephaly 18, primary, autosomal dominant

Preferred Label : Microcephaly 18, primary, autosomal dominant;

Symbol : MCPH18;

CISMeF acronym : MCPH18;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the WD repeat- and FYVE domain-containing protein 3 gene (WDFY3, 617485.0001);

Prefixed ID : #617520;

Détails

Origin ID

617520;

UMLS CUI

C4479608;

Currated CISMeF NLP mapping
- primary autosomal dominant microcephaly 18 [DO Concept]
DO Cross reference
- primary autosomal dominant microcephaly 18 [DO Concept]
Genes related to phenotype
- Wd repeat- and fyve domain-containing protein 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Intellectual disability, mild [HPO term]
- Intellectual disability, moderate [HPO term]
- Microcephaly [HPO term]
Not associated HPO term(s)
- Abnormality of brain morphology [HPO term]
ORDO concept(s)
- Autosomal dominant primary microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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