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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 http://purl.obolibrary.org/obo/ECO_0007646
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	Smith-Magenis syndrome
annotatedTarget	A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/books/NBK1310/ url:https://www.ncbi.nlm.nih.gov/pubmed/16845274 url:https://www.ncbi.nlm.nih.gov/pubmed/21844811 url:https://www.ncbi.nlm.nih.gov/pubmed/6745947
is topic of	Human Disease Ontology

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