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DO Term : primary hyperoxaluria [DOID:2977] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
UMLS_CUI:C0020500,
SNOMEDCT_US_2023_03_01:190766003,
NCI:C123158,
MESH:D006960,
DOID:2979,
ICD10CM:R82.992,
PS259900,
MESH:D006959,
UMLS_CUI:C0020501,
SNOMEDCT_US_2023_03_01:367621000119107,
ICD10CM:E72.53,
OMIM:PS259900,
ORDO:416

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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