Hypouricemia, renal, 2

Preferred Label : Hypouricemia, renal, 2;

Symbol : RHUC2;

CISMeF acronym : GOUT2; RHUC2; UAQTL2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Uric acid concentration, serum, quantitative trait locus 2; Gout susceptibility 2; UAQTL2; GOUT2;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 9 gene (SLC2A9, 606142.0004);

Laboratory abnormalities : High fractional urinary excretion of uric acid; Low serum uric acid;

Prefixed ID : #612076;

Details

Origin ID

612076;

UMLS CUI

C2677549;

Automatic exact mappings (from CISMeF team)
- Hereditary renal hypouricemia [ORDO Disease]
Broader ORDO disease(s)
- Hereditary renal hypouricemia [ORDO Disease]
Currated CISMeF NLP mapping
- hypouricemia, renal, 2 [MeSH concept]
- hypouricemia, renal, 2 [MeSH Supplementary Concept]
Genes related to phenotype
- Solute carrier family 2 (facilitated glucose transporter), member 9 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypouricemia [HPO term]
- Nephrolithiasis [HPO term]
ORDO concept(s)
- Hereditary renal hypouricemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypouricemia, renal, 2 [MeSH Supplementary Concept]
- hypouricemia, renal, 2 [MeSH concept]

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