Liddle syndrome 2

Preferred Label : Liddle syndrome 2;

Symbol : LIDLS2;

CISMeF acronym : LIDLS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium channel, nonvoltage-gated 1, gamma gene (SCNN1G, 600761.0001);

Prefixed ID : #618114;

Détails

Origin ID

618114;

UMLS CUI

C4748251;

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

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

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