WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:14515 WAGR syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  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.

1 Ontology

Name
Disease Ontology

5 Parents

Identifier Name Description
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0060388 chromosomal deletion syndrome A chromosomal disease that has_material_basis_in partial deletion of chromosomes.
DOID:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
DOID:14515 WAGR syndrome 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.

4 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060388 DOID:14515
is_a DOID:630 DOID:14515
is_a DOID:0080014 DOID:14515
is_a DOID:4 DOID:14515

3 Synonyms

Name Type
11p partial monosomy syndrome synonym
chromosome 11p13 deletion syndrome synonym
Wilms tumor-Aniridia-Genitourinary Anomalies-Mental Retardation syndrome synonym