About: WAGR 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. [LS].

Attributes	Values
type	Class
subClassOf	chromosomal deletion syndrome
label	WAGR syndrome
comment	OMIM mapping confirmed by DO. [LS].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:14515
database_cross_reference	GARD:5528 MESH:D017624 NCI:C3718 OMIM:194072 SNOMEDCT_US_2021_09_01:715215007 UMLS_CUI:C0206115
has_exact_synonym	Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome (en) 11p partial monosomy syndrome (en) chromosome 11p13 deletion syndrome (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50949661

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