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Metadata
ID DOID:14701
Name propionic acidemia
Definition An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.
http://en.wikipedia.org/wiki/Propionic_acidemia
Xrefs

GARD:467

ICD10CM:E71.121

MESH:D056693

NCI:C85030

OMIM:606054

SNOMEDCT_US_2020_03_01:69080001

UMLS_CUI:C0268579

UMLS_CUI:C2717876

Alternateids

DOID:14706

Subsets

NCIthesaurus

Synonyms

GLYCINEMIA, KETOTIC [EXACT]

ketotic glycinemia [EXACT]

KETOTIC HYPERGLYCINEMIA [EXACT]

ketotic II glycinemia [EXACT]

propionic aciduria [EXACT]

propionyl-CoA carboxylase deficiency [EXACT]

Parent Relationships

is_a organic acidemia

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