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Namespace Prefixes

PrefixIRI
n5https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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
n3:DOID_0060799
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_0060429 n3:DOID_0060309 _:vb50939418
rdfs:label
syndromic X-linked intellectual disability Lubs type
wdrs:describedby
n5:doid.owl
obo:id
DOID:0060799
obo:hasDbXref
ORDO:85281 OMIM:300260 SNOMEDCT_US_2021_09_01:702816000 MESH:C537723 UMLS_CUI:C1846058 NCI:C126747
obo:hasExactSynonym
X-linked intellectual disability-hypotonia-recurrent Infections syndrome Lubs X-linked mental retardation syndrome MRXSL mental retardation, X-linked, syndromic, Lubs type MECP2 duplication syndrome mental retardation, X-linked, with recurrent respiratory infections
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:NCIthesaurus
n3:IAO_0000115
A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
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n3:IDO_0000664
owl:someValuesFrom
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Subject Item
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Subject Item
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