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DO Term : Down syndrome [DOID:14250] 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.

synonyms:
SNOMEDCT_US_2023_03_01:41040004,
190685,
Downs syndrome,
Down's syndrome,
ICD9CM:758.0,
NCI:C2993,
ICD10CM:Q90,
Down's syndrome - trisomy 21,
ORDO:870,
UMLS_CUI:C0013080,
MESH:D004314,
GARD:10247,
Complete trisomy 21 syndrome,
OMIM:190685,
G Trisomy,
trisomy 21 syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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