WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060436 chromosome 22q11.2 microduplication syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region.

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:0080014 chromosomal disease A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes.
DOID:0060429 chromosomal duplication syndrome A chromosomal disease that has_material_basis_in extra copies of a chromosomal region.
DOID:0060436 chromosome 22q11.2 microduplication syndrome A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region.

4 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060429 DOID:0060436
is_a DOID:630 DOID:0060436
is_a DOID:0080014 DOID:0060436
is_a DOID:4 DOID:0060436

3 Synonyms

Name Type
22q11.2 microduplication syndrome synonym
duplication 22q11.2 synonym
trisomy 22q11.2 synonym