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Namespace Prefixes

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rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

_:vb50946237

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owl:Axiom

wdrs:describedby

n6:doid.owl

dc:type

n4:ECO_0007645

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n4:IAO_0000115

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n4:DOID_0112180

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A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in UROC1 on chromosome 3q21.3.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/19304569/ url:https://pubmed.ncbi.nlm.nih.gov/6107814/