Short stature with nonspecific skeletal abnormalities 1

Preferred Label : Short stature with nonspecific skeletal abnormalities 1;

Symbol : SNSK1;

CISMeF acronym : SNSK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SNSK;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the natriuretic peptide receptor 2 gene (NPR2, 108961.0008);

Prefixed ID : #616255;

Details

Origin ID

616255;

UMLS CUI

C4225399;

Genes related to phenotype
- Natriuretic peptide receptor 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Delayed skeletal maturation [HPO term]
- Proportionate short stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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