About: chromosome 17p13.1 deletion syndrome

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

Attributes	Values
type	Class
subClassOf	autosomal dominant disease chromosomal deletion syndrome nodeID://b50938781
label	chromosome 17p13.1 deletion syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060402
created_by	elvira
creation_date	2015-09-28T16:49:53Z
database_cross_reference	GARD:10996 MESH:D054221 OMIM:613776
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938782

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