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

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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	Hajdu-Cheney syndrome
annotatedTarget	A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/21378985 url:https://www.ncbi.nlm.nih.gov/pubmed/21378989 url:https://www.ncbi.nlm.nih.gov/pubmed/9714016
is topic of	Human Disease Ontology

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