About: multiple acyl-CoA dehydrogenase deficiency

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

Attributes	Values
type	Class
subClassOf	inherited metabolic disorder nodeID://b50938710 nodeID://b50938711
label	multiple acyl-CoA dehydrogenase deficiency
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060358
created_by	elvira
creation_date	2015-08-20T16:23:47Z
database_cross_reference	ICD10CM:E71.313 MESH:D054069 NCI:C84907 OMIM:231680 ORDO:26791 SNOMEDCT_US_2021_09_01:22886006 UMLS_CUI:C0268596 UMLS_CUI:C1856401 UMLS_CUI:C1856403 UMLS_CUI:C1856405
has_exact_synonym	electron transfer flavoprotein ubiquinone oxidoreductase deficiency (en) MAD deficiency (en) MADD (en) electron transfer flavoprotein deficiency (en) glutaric acidemia type 2 (en) glutaric aciduria type 2 (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938712

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