Silver-russell syndrome 4

Preferred Label : Silver-russell syndrome 4;

Symbol : SRS4;

CISMeF acronym : SRS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the PLAG1 zinc finger protein gene (PLAG1, 603026.0001);

Prefixed ID : #618907;

Détails

Origin ID

618907;

UMLS CUI

C5394450;

Automatic exact mappings (from CISMeF team)
- PLAG1 wt Allele [NCIt concept]
Genes related to phenotype
- Plag1 zinc finger protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Decreased body weight [HPO term]
- Feeding difficulties in infancy [HPO term]
- Mild microcephaly [HPO term]
- Prominent forehead [HPO term]
- Small for gestational age [HPO term]
- Triangular face [HPO term]
ORDO concept(s)
- Silver-Russell syndrome due to a point mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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