WormMine: DiseaseOntology DOID:0060413 chromosome 22q11.2 deletion syndrome, distal Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.

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:0060413	chromosome 22q11.2 deletion syndrome, distal	A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome.

4 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0060388	DOID:0060413
is_a	DOID:0080014	DOID:0060413
is_a	DOID:630	DOID:0060413
is_a	DOID:4	DOID:0060413

2 Synonyms

• Name: DiGeorge syndrome and Velocardiofacial syndrome
• Type: synonym

• Name: distal 22q11.2 microdeletion syndrome
• Type: synonym