About: nodeID://b50940248

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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007638
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	spondyloepimetaphyseal dysplasia, Strudwick type
annotatedTarget	A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
database_cross_reference	url:http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=134 url:http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type url:http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93346
is topic of	Human Disease Ontology

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