About: combined malonic and methylmalonic acidemia

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About: combined malonic and methylmalonic acidemia Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease organic acidemia nodeID://b50944503 nodeID://b50944504
label	combined malonic and methylmalonic acidemia
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111263
database_cross_reference	GARD:10818 MESH:C580002 OMIM:614265 ORDO:289504 SNOMEDCT_US_2021_09_01:702365002 UMLS_CUI:C3280314
has_exact_synonym	CMAMMA (en) combined malonic and methylmalonic aciduria (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944505

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