This HTML5 document contains 22 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

Prefix	IRI
n6	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
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#
n7	http://purl.obolibrary.org/obo/doid#
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_0110829

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050736 n2:DOID_0050439 _:vb50943740

rdfs:label

retinitis pigmentosa-deafness syndrome

rdfs:comment

Orphanet has this as part of USH3, reference listed refers to symptoms being almost identical to USH3 but inheritance pattern is different. I made this a child of Usher Syndrome but not USH3 - smb.

wdrs:describedby

n6:doid.owl

obo:id

DOID:0110829

obo:hasDbXref

GARD:4684 NCI:C126329 OMIM:500004 UMLS_CUI:C1568248 SNOMEDCT_US_2021_09_01:1010610007 MESH:D052245 ORDO:231183

obo:hasOBONamespace

disease_ontology

obo:inSubset

n7:NCIthesaurus

n2:IAO_0000115

An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.

Subject Item

_:vb50943740

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n6:doid.owl