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Namespace Prefixes

PrefixIRI
n8https://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#
n5http://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_0050460
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0060388
rdfs:label
Wolf-Hirschhorn syndrome
rdfs:comment
OMIM mapping confirmed by DO. [LS].
wdrs:describedby
n8:doid.owl
obo:id
DOID:0050460
obo:hasAlternativeId
DOID:6684
obo:hasDbXref
SNOMEDCT_US_2021_09_01:17122004 ORDO:280 OMIM:194190 MESH:D054877 ICD10CM:Q93.3 UMLS_CUI:C0796117 GARD:7896 NCI:C35528 UMLS_CUI:C1956097
obo:hasExactSynonym
Pitt-Rogers-Danks Syndrome PITT SYNDROME 4p deletion syndrome chromosome 4p16.3 deletion syndrome
obo:hasOBONamespace
disease_ontology
obo:inSubset
n5:DO_FlyBase_slim n5:NCIthesaurus
n2:IAO_0000115
A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a microdeletion of the short arm of chromosome 4.