WormMine: DiseaseOntology DOID:14250 Down syndrome Disease Ontology

• Namespace: disease_ontology
• Obsolete: false
• Description: A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.

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:14250	Down syndrome	A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.

4 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0060429	DOID:14250
is_a	DOID:0080014	DOID:14250
is_a	DOID:630	DOID:14250
is_a	DOID:4	DOID:14250

6 Synonyms

• Name: Complete trisomy 21 syndrome
• Type: synonym

• Name: Down's syndrome
• Type: synonym

• Name: Down's syndrome - trisomy 21
• Type: synonym

• Name: Downs syndrome
• Type: synonym

• Name: G Trisomy
• Type: synonym

• Name: trisomy 21 syndrome
• Type: synonym