WormMine: DiseaseOntology DOID:0060394 chromosome 15q13.3 microdeletion syndrome Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.

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:0060394	chromosome 15q13.3 microdeletion syndrome	A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.

4 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0060388	DOID:0060394
is_a	DOID:0080014	DOID:0060394
is_a	DOID:630	DOID:0060394
is_a	DOID:4	DOID:0060394

1 Synonyms

• Name: 15q13.3 microdeletion syndrome
• Type: synonym