About: nodeID://b50937446

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

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007638
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	3-Methylcrotonyl-CoA carboxylase deficiency
annotatedTarget	An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.
database_cross_reference	url:http://omim.org/entry/210200 url:http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency
is topic of	Human Disease Ontology

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