About: Koolen de Vries syndrome

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

Attributes	Values
type	Class
subClassOf	autosomal dominant disease syndrome nodeID://b50937775 nodeID://b50937776
label	Koolen de Vries syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050880
created_by	lschriml
creation_date	2014-08-06T12:57:12Z
has_alternative_id	DOID:0070076
database_cross_reference	GARD:10727 OMIM:610443 ORDO:96169
has_exact_synonym	17q21.31 microdeletion syndrome (en) KANSL1-related intellectual disability syndrome (en) KdVS (en) Koolen-De Vries syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937777

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