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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#
skoshttp://www.w3.org/2004/02/skos/core#
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_9250
rdf:type
owl:Class
rdfs:subClassOf
_:vb50956406 n2:DOID_225
rdfs:label
acrocallosal syndrome
rdfs:comment
OMIM mapping confirmed by DO. [SN].
skos:exactMatch
MESH:D055673
wdrs:describedby
n7:doid.owl
obo:id
DOID:9250
obo:hasDbXref
MESH:D055673 GARD:5721 OMIM:200990 SNOMEDCT_US_2021_09_01:715951007 NCI:C84531 UMLS_CUI:C0796147
obo:hasExactSynonym
Schinzel syndrome 1 SCHINZEL ACROCALLOSAL SYNDROME ACLS
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:NCIthesaurus
n2:IAO_0000115
A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
Subject Item
_:vb50956406
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002200
owl:someValuesFrom
n2:HP_0001274
wdrs:describedby
n7:doid.owl