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Namespace Prefixes

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dc	http://purl.org/dc/elements/1.1/
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rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

_:vb50946170

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owl:Axiom

wdrs:describedby

n3:doid.owl

dc:type

n6:ECO_0007645

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n6:IAO_0000115

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n6:DOID_0112141

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A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in DHX38 on chromosome 16q22.2.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/24737827/ url:https://pubmed.ncbi.nlm.nih.gov/30208423/