This HTML5 document contains 21 embedded RDF statements represented using HTML+Microdata notation.

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

Namespace Prefixes

PrefixIRI
n5https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0050647
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0060309
rdfs:label
Arts syndrome
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n5:doid.owl
obo:id
DOID:0050647
obo:hasDbXref
MESH:C535388 ORDO:1187 OMIM:301835 UMLS_CUI:C0796028 GARD:8756 SNOMEDCT_US_2021_09_01:702441001
obo:hasExactSynonym
Lethal ataxia with deafness and optic atrophy syndromic X-linked mental retardation 18 ARTS fatal X-linked ataxia with deafness and loss of vision MRXS18 syndromic X-linked mental retardation Arts type MRXSARTS
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene.