About: nodeID://b50940237

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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	otospondylomegaepiphyseal dysplasia, autosomal recessive
annotatedTarget	An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss.
database_cross_reference	url:http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm url:http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia url:http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia url:http://www.ncbi.nlm.nih.gov/omim/215150
is topic of	Human Disease Ontology

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