primary hyperoxaluria

Term ID

DOID:2977

Synonyms

Definition

A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. (2)

References

ICD10CM:E72.53
ICD10CM:R82.992
MESH:D006959
MESH:D006960
MIM:PS259900
NCI:C123158
ORDO:416
SNOMEDCT_US_2023_03_01:190766003
SNOMEDCT_US_2023_03_01:367621000119107
UMLS_CUI:C0020500
UMLS_CUI:C0020501

Ontology

Human Disease ( DOID:2977 )

Relationships

is a type of: carbohydrate metabolic disorder

carbohydrate metabolic disorder Show first 5 Terms
has subtype: primary hyperoxaluria type 1 primary hyperoxaluria type 2 primary hyperoxaluria type 3

primary hyperoxaluria type 1 primary hyperoxaluria type 2 primary hyperoxaluria type 3 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models