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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 http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007646
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	Koolen de Vries syndrome
annotatedTarget	A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
database_cross_reference	url:http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome url:http://omim.org/entry/610443 url:http://www.17q21.com/en/ url:http://www.ncbi.nlm.nih.gov/books/NBK24676/ url:https://www.ncbi.nlm.nih.gov/pubmed/19447831 url:https://www.ncbi.nlm.nih.gov/pubmed/22544363 url:https://www.ncbi.nlm.nih.gov/pubmed/22544367 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169 url:http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome
is topic of	Human Disease Ontology

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