About: nodeID://b50946267

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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_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	spondylometaepiphyseal dysplasia, short limb-hand type
annotatedTarget	A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3.
database_cross_reference	url:https://pubmed.ncbi.nlm.nih.gov/31406622/ url:https://pubmed.ncbi.nlm.nih.gov/8434618/
is topic of	Human Disease Ontology

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