Liddle syndrome 3

Preferred Label : Liddle syndrome 3;

Symbol : LIDLS3;

CISMeF acronym : LIDLS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium channel, nonvoltage-gated 1, alpha gene (SCNN1A, 600228.0009);

Prefixed ID : #618126;

Details

Origin ID

618126;

UMLS CUI

C4748292;

Genes related to phenotype
- Sodium channel, epithelial 1, alpha subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypertension [HPO term]
- Hypokalemia [HPO term]
- Metabolic alkalosis [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Liddle syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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