About: KBG syndrome

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

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	spinal disease syndrome nodeID://b50949775
label	KBG syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:14780
database_cross_reference	GARD:82 MESH:C537015 OMIM:148050 ORDO:2332 SNOMEDCT_US_2021_09_01:711156009 UMLS_CUI:C0220687
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50949776

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