Singleton-merten syndrome 2

Preferred Label : Singleton-merten syndrome 2;

Symbol : SGMRT2;

CISMeF acronym : SGMRT2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the DExD/H-box helicase 58 gene (DDX58, 609631.0001);

Prefixed ID : #616298;

Details

Origin ID

616298;

UMLS CUI

C4225380;

Automatic exact mappings (from CISMeF team)
- RIGI wt Allele [NCIt concept]
Genes related to phenotype
- Dexd/h-box helicase 58 [OMIM gene]
HPO term(s)
- Aortic valve stenosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Glaucoma [HPO term]
- Hyperkeratosis [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Abnormality of the dentition [HPO term]
ORDO concept(s)
- Singleton-Merten dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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