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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_9521

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050737 _:vb50956584 n2:DOID_225

rdfs:label

Laron syndrome

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n6:doid.owl

obo:id

DOID:9521

obo:hasDbXref

GARD:6859 ORDO:633 OMIM:262500 ICD10CM:E34.3 UMLS_CUI:C0271568 MESH:D046150 NCI:C130994 SNOMEDCT_US_2021_09_01:38196001

obo:hasExactSynonym

Laron-type isolated somatotropin defect

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

n2:IAO_0000115

A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.

Subject Item

_:vb50956584

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n6:doid.owl