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Namespace Prefixes

PrefixIRI
n3https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n4http://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
n4:DOID_0050681
rdf:type
owl:Class
rdfs:subClassOf
n4:DOID_0080012 _:vb50937382 n4:DOID_0060309
rdfs:label
Borjeson-Forssman-Lehmann syndrome
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n3:doid.owl
obo:id
DOID:0050681
obo:hasDbXref
MESH:C536575 UMLS_CUI:C0265339 OMIM:301900 NCI:C157122 GARD:936 SNOMEDCT_US_2021_09_01:21634003 ORDO:127
obo:hasExactSynonym
BFLS BORJ intellectual deficiency-epilepsy-endocrine disorders syndrome MRXSBFL syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type Borjeson syndrome mental retardation, epilepsy, and endocrine disorder
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:DO_rare_slim
n4:IAO_0000115
An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
Subject Item
_:vb50937382
rdf:type
owl:Restriction
owl:onProperty
n4:IDO_0000664
owl:someValuesFrom
n4:GENO_0000149
wdrs:describedby
n3:doid.owl