SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
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n4 http://purl.obolibrary.org/obo/
wdrs http://www.w3.org/2007/05/powder-s#
dc http://purl.org/dc/elements/1.1/
obo http://www.geneontology.org/formats/oboInOwl#
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 _:vb50956585
rdf:type
owl:Axiom
wdrs:describedby
n7:doid.owl
dc:type
n4:ECO_0007636
n4:ECO_0007645
owl:annotatedProperty
n4:IAO_0000115
owl:annotatedSource
n4:DOID_9521
owl:annotatedTarget
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.
obo:hasDbXref
url:https://ghr.nlm.nih.gov/condition/laron-syndrome
url:https://www.ncbi.nlm.nih.gov/pubmed/8488849