Hyperoxaluria, primary, type II

Preferred Label : Hyperoxaluria, primary, type II;

Symbol : HP2;

CISMeF acronym : HP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glyceric aciduria; D-glycerate dehydrogenase deficiency; Glyoxylate reductase/hydroxypyruvate reductase deficiency; Oxalosis II;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (GRHPR, 604296.0001);

Laboratory abnormalities : Increased urinary oxylate; Increased urinary L-glycerate; Decreased GRHPR activity;

Prefixed ID : #260000;

Détails

Origin ID

260000;

UMLS CUI

C0268165;

Automatic exact mappings (from CISMeF team)
- Oxalosis [PASCAL descriptor]
- hyperoxaluria [MeSH Descriptor]
- hyperoxaluria, primary [MeSH Descriptor]
- oxalosis [MeSH concept]
- primary hyperoxaluria type 2 [DO Concept]
Broader ORDO disease(s)
- Primary hyperoxaluria [ORDO Disease]
Currated CISMeF NLP mapping
- Primary Hyperoxaluria Type II [NCIt concept]
- Primary hyperoxaluria type 2 [ICD-11 More detail]
- Primary hyperoxaluria type 2 [MeSH concept]
- Primary hyperoxaluria type 2 [ORDO Disease]
- Primary hyperoxaluria, type II (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 2 [MeSH Supplementary Concept]
- primary hyperoxaluria type II [Disease (Nov.)]
- primary hyperoxaluria, type ii [SNOMED Notion]
DO Cross reference
- primary hyperoxaluria type 2 [DO Concept]
Genes related to phenotype
- Glyoxylate reductase/hydroxypyruvate reductase [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calcium oxalate nephrolithiasis [HPO term]
- Calcium oxalate urolithiasis [HPO term]
- Hematuria [HPO term]
- Hyperoxaluria [HPO term]
- Nephrocalcinosis [HPO term]
- Renal insufficiency [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Primary hyperoxaluria [ORDO Disease]
- Primary hyperoxaluria type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Hyperoxaluria Type II [NCIt concept]
- Primary hyperoxaluria type 2 [MeSH concept]
- Primary hyperoxaluria type 2 [ORDO Disease]
- Primary hyperoxaluria type 2 [ICD-11 More detail]
- Primary hyperoxaluria, type II (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 2 [MeSH Supplementary Concept]
- primary hyperoxaluria type 2 [DO Concept]
- primary hyperoxaluria type II [Disease (Nov.)]
- primary hyperoxaluria, type ii [SNOMED Notion]
Validated automatic mappings to NTBT
- Primary hyperoxaluria [ORDO Disease]

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

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