JSON

Down syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008608

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. [ Orphanet:870 https://orcid.org/0000-0002-4142-7153 ]

Term info

database cross reference
  • MESH:D004314 (Orphanet:870/e)
  • OMIM:190685 (Orphanet:870/e)
  • Orphanet:870 (OMIM:190685)
  • ICD9:758.0 (MONDO:i2s)
  • MedDRA:10044688 (Orphanet:870/e)
  • EFO:0001064 (MONDO:equivalentTo)
  • SCTID:41040004 (MONDO:equivalentTo)
  • NCIT:C2993 (MONDO:equivalentTo)
  • UMLS:C0013080 (Orphanet:870/e)
  • GARD:0010247 (MONDO:equivalentTo)
  • DOID:14250 (MONDO:equivalentTo)
  • NIFSTD:nlx_dys_20090502 (EFO:0001064)
Subsets

ordo_malformation_syndrome

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10044688

comment

May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future

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.

exactMatch

http://identifiers.org/mesh/D004314, http://linkedlifedata.com/resource/umls/id/C0013080, https://omim.org/entry/190685, http://purl.obolibrary.org/obo/DOID_14250, http://purl.obolibrary.org/obo/Orphanet_870, http://purl.obolibrary.org/obo/NCIT_C2993, http://identifiers.org/snomedct/41040004

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019040, http://purl.obolibrary.org/obo/MONDO_0015159, http://purl.obolibrary.org/obo/MONDO_0015506, http://purl.obolibrary.org/obo/MONDO_0002254, http://purl.obolibrary.org/obo/MONDO_0018792, http://purl.obolibrary.org/obo/MONDO_0015652, http://purl.obolibrary.org/obo/MONDO_0003847, http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

Downs syndrome, G trisomy, trisomy 21 (Down syndrome), Down's syndrome, leukemia, megakaryoblastic, with or without Down syndrome, somatic, Down syndrome, Isolated cases, Down syndrome, Down's syndrome - trisomy 21

has narrow synonym

complete trisomy 21 syndrome, trisomy 21, trisomy 21 syndrome

has related synonym

transient myeloproliferative disorder of Down syndrome, leukemia, megakaryoblastic, of Down syndrome, Down syndrome chromosome region, Down syndrome critical region

id

MONDO:0008608