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Namespace Prefixes

Prefix	IRI
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n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
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

n2:DOID_0111273

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_700 _:vb50944523

rdfs:label

NARP syndrome

wdrs:describedby

n6:doid.owl

obo:id

DOID:0111273

obo:hasDbXref

OMIM:551500 UMLS_CUI:C1328349 MESH:C537396 GARD:262 SNOMEDCT_US_2021_09_01:237984008 MEDDRA:10062940 ORDO:644

obo:hasExactSynonym

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome neuropathy, ataxia and retinitis pigmentosa Neuropathy-ataxia-retinitis pigmentosa syndrome

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6.

Subject Item

_:vb50944523

rdf:type

owl:Restriction

owl:onProperty

n2:RO_0002452

owl:someValuesFrom

n2:SYMP_0000094

wdrs:describedby

n6:doid.owl