Silver-russell syndrome 5

Preferred Label : Silver-russell syndrome 5;

Symbol : SRS5;

CISMeF acronym : SRS5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the high mobility group at-hook 2 gene (HMGA2, 600698.0001);

Prefixed ID : #618908;

Details

Origin ID

618908;

UMLS CUI

C5394456;

Genes related to phenotype
- High mobility group at-hook 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Birth length less than 3rd percentile [HPO term]
- Delayed skeletal maturation [HPO term]
- Feeding difficulties in infancy [HPO term]
- Intrauterine growth retardation [HPO term]
- Prominent forehead [HPO term]
- Relative macrocephaly [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]

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