About: chromosome 15q13.3 microdeletion syndrome

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About: chromosome 15q13.3 microdeletion syndrome Goto Sponge NotDistinct Permalink

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

Attributes	Values
type	Class
subClassOf	chromosomal deletion syndrome
label	chromosome 15q13.3 microdeletion syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060394
created_by	elvira
creation_date	2015-09-28T16:23:21Z
database_cross_reference	GARD:10296 ICD10CM:Q93.5 MESH:C567439 OMIM:612001 ORDO:199318
has_exact_synonym	15q13.3 microdeletion syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938771

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