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DO Term : propionic acidemia [DOID:14701] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy.

synonyms:
OMIM:606054,
NCI:C85030,
MESH:D056693,
propionic aciduria,
ketotic glycinemia,
propionyl-CoA carboxylase deficiency,
GARD:467,
UMLS_CUI:C0268579,
SNOMEDCT_US_2023_03_01:69080001,
ketotic II glycinemia,
GLYCINEMIA, KETOTIC,
ICD10CM:E71.121,
UMLS_CUI:C2717876,
606054,
DOID:14706,
KETOTIC HYPERGLYCINEMIA

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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