Link to this page
Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | Down syndrome | |
| Synonyms |
complete trisomy 21 syndrome trisomy 21 syndrome trisomy 21 transient myeloproliferative disorder of Down syndrome Down syndrome chromosome region leukemia, megakaryoblastic, of Down syndrome Down syndrome critical region Downs syndrome Down's syndrome Down syndrome leukemia, megakaryoblastic, with or without Down syndrome, somatic G trisomy Down syndrome, Isolated cases Down's syndrome - trisomy 21 trisomy 21 (Down syndrome) |
|
| Definitions |
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008608 |
|
| comment |
May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future
|
|
| altLabel |
complete trisomy 21 syndrome trisomy 21 syndrome trisomy 21 transient myeloproliferative disorder of Down syndrome Down syndrome chromosome region leukemia, megakaryoblastic, of Down syndrome Down syndrome critical region Downs syndrome Down's syndrome Down syndrome leukemia, megakaryoblastic, with or without Down syndrome, somatic G trisomy Down syndrome, Isolated cases Down's syndrome - trisomy 21 trisomy 21 (Down syndrome)
|
|
| definition |
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future
|
|
| disease has feature | ||
| has_exact_synonym |
Downs syndrome Down's syndrome Down syndrome leukemia, megakaryoblastic, with or without Down syndrome, somatic G trisomy Down syndrome, Isolated cases Down's syndrome - trisomy 21 trisomy 21 (Down syndrome)
|
|
| has_narrow_synonym |
complete trisomy 21 syndrome trisomy 21 syndrome trisomy 21
|
|
| has_related_synonym |
transient myeloproliferative disorder of Down syndrome Down syndrome chromosome region leukemia, megakaryoblastic, of Down syndrome Down syndrome critical region
|
|
| IAO_0000233 | ||
| label |
Down syndrome
|
|
| prefixIRI |
MONDO:0008608
|
|
| prefLabel |
Down syndrome
|
|
| textual definition |
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
|
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |