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Namespace Prefixes

PrefixIRI
n7https://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#
n8http://purl.obolibrary.org/obo/doid#
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_12376
rdf:type
owl:Class
rdfs:subClassOf
_:vb50948362 _:vb50948363 n2:DOID_0060160
rdfs:label
juvenile spinal muscular atrophy
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n7:doid.owl
obo:id
DOID:12376
obo:hasAlternativeId
DOID:13161
obo:hasDbXref
OMIM:253400 NCI:C118847 SNOMEDCT_US_2021_09_01:54280009 MESH:D014897 ICD9CM:335.11 UMLS_CUI:C0152109
obo:hasExactSynonym
Type III Spinal Muscular Atrophy SMA3 Kugelberg-Welander disease Spinal Muscular Atrophy Type 3
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:NCIthesaurus
n2:IAO_0000115
A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk.
Subject Item
_:vb50948362
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000094
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50948363
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002488
owl:someValuesFrom
n2:HP_0011462
wdrs:describedby
n7:doid.owl