Hyperoxaluria, primary, type III

Preferred Label : Hyperoxaluria, primary, type III;

Symbol : HP3;

CISMeF acronym : HP3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 4-hydroxy-2-oxoglutarate aldolase 1 gene (HOGA1, 613597.0001);

Laboratory abnormalities : Hypercalciuria (in some patients); Hyperuricosuria (in some patients); Hyperoxaluria; Elevated plasma oxalate; Glycolic aciduria, mild (in some patients);

Prefixed ID : #613616;

Details

Origin ID

613616;

UMLS CUI

C3150878;

Currated CISMeF NLP mapping
- Primary Hyperoxaluria Type III [NCIt concept]
- Primary hyperoxaluria type 3 [ORDO Disease]
- Primary hyperoxaluria type III (disorder) [SNOMED CT concept]
- primary hyperoxaluria type III [Disease (Nov.)]
DO Cross reference
- primary hyperoxaluria type 3 [DO Concept]
Genes related to phenotype
- 4-hydroxy-2-oxoglutarate aldolase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Calcium oxalate nephrolithiasis [HPO term]
- Hyperoxaluria [HPO term]
ORDO concept(s)
- Primary hyperoxaluria [ORDO Disease]
- Primary hyperoxaluria type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Hyperoxaluria Type III [NCIt concept]
- Primary hyperoxaluria type 3 [ORDO Disease]
- Primary hyperoxaluria type III (disorder) [SNOMED CT concept]
- primary hyperoxaluria type 3 [DO Concept]
- primary hyperoxaluria type III [Disease (Nov.)]
Validated automatic mappings to NTBT
- Primary hyperoxaluria [ORDO Disease]

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