Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

short chain acyl-CoA dehydrogenase deficiency

Definitions

A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.

ID

http://purl.obolibrary.org/obo/DOID_0080154

database_cross_reference

ORDO:26792

GARD:4822

OMIM:201470

definition

A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids.

has_obo_namespace

disease_ontology

id

DOID:0080154

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

short chain acyl-CoA dehydrogenase deficiency

notation

DOID:0080154

prefLabel

short chain acyl-CoA dehydrogenase deficiency

subClassOf

http://purl.obolibrary.org/obo/DOID_3146

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