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Namespace Prefixes

PrefixIRI
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owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
_:vb50937446
rdf:type
owl:Axiom
wdrs:describedby
n3:doid.owl
dc:type
n5:ECO_0007638 n5:ECO_0007636
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n5:IAO_0000115
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n5:DOID_0050710
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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.
obo:hasDbXref
url:http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency url:http://omim.org/entry/210200