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Namespace Prefixes

PrefixIRI
n6https://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#
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_0111789
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 _:vb50945468 n2:DOID_0111782
rdfs:label
Frank-Ter Haar syndrome
wdrs:describedby
n6:doid.owl
obo:id
DOID:0111789
obo:hasDbXref
SNOMEDCT_US_2021_09_01:720958002 OMIM:249420 GARD:5138 ORDO:137834 MESH:C537274 UMLS_CUI:C1855305
obo:hasExactSynonym
Borrone dermatocardioskeletal syndrome megalocornea, multiple skeletal anomalies, and developmental delay Ter Haar syndrome FTHS autosomal recessive Melnick-Needles syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1.
Subject Item
_:vb50945468
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n6:doid.owl