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Namespace Prefixes

Prefix	IRI
n7	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#
n5	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_0060387

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_2256

rdfs:label

chondrodysplasia Blomstrand type

wdrs:describedby

n7:doid.owl

obo:id

DOID:0060387

obo:created_by

elvira

obo:creation_date

2015-09-24T16:23:12Z

obo:hasDbXref

GARD:914 MESH:C537914 ORDO:50945 NCI:C131420 OMIM:215045 UMLS_CUI:C1859148

obo:hasExactSynonym

Blomstrand lethal chondrodysplasia

obo:hasOBONamespace

disease_ontology

obo:inSubset

n5:DO_rare_slim n5:NCIthesaurus

n2:IAO_0000115

An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.