This HTML5 document contains 26 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n6	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
n8	http://purl.obolibrary.org/obo/doid#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_0060348

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_225 _:vb50938684 n2:DOID_0050737

rdfs:label

hypoparathyroidism-retardation-dysmorphism syndrome

wdrs:describedby

n6:doid.owl

obo:id

DOID:0060348

obo:created_by

elvira

obo:creation_date

2015-06-19T20:05:16Z

obo:hasDbXref

UMLS_CUI:C1855840 NCI:C133727 ORDO:2323 OMIM:241410 GARD:411 MESH:C537157

obo:hasExactSynonym

HRD syndrome hypoparathyroidism with short stature, mental retardation and seizures Sanjad-Sakati syndrome

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:DO_rare_slim n8:NCIthesaurus

n2:IAO_0000115

A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3.

Subject Item

_:vb50938684

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n6:doid.owl