JSON

Down syndrome

Go to external page 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 ]

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

This is just here as a test because I lose it

Term information

database cross reference
  • MedDRA:10044688 (Orphanet:870/e)
  • NIFSTD:nlx_dys_20090502 (EFO:0001064)
  • icd11.foundation:1624623908 (https://orcid.org/0000-0002-4142-7153)
  • DOID:14250 (MONDO:equivalentTo)
  • NANDO:2200965 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:41040004 (MONDO:equivalentTo)
  • MESH:D004314 (Orphanet:870/e)
  • EFO:0001064 (MONDO:equivalentTo)
  • ICD9:758.0 (MONDO:i2s)
  • MEDGEN:4385 (MONDO:equivalentTo)
  • NCIT:C2993 (MONDO:equivalentTo)
  • OMIM:190685 (Orphanet:870/e)
  • Orphanet:870 (OMIM:190685)
  • UMLS:C0013080 (MONDO:equivalentTo)
Subsets

ordo_disorder, otar, rare, ordo_malformation_syndrome, orphanet_rare

closeMatch

http://identifiers.org/meddra/10044688

comment

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

exactMatch

http://identifiers.org/mesh/D004314

http://identifiers.org/medgen/4385

http://linkedlifedata.com/resource/umls/id/C0013080

https://omim.org/entry/190685

http://purl.obolibrary.org/obo/DOID_14250

http://purl.obolibrary.org/obo/NCIT_C2993

http://www.orpha.net/ORDO/Orphanet_870

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_0003847

http://purl.obolibrary.org/obo/MONDO_0015652

http://purl.obolibrary.org/obo/MONDO_0000508

has narrow synonym

complete trisomy 21 syndrome

trisomy 21

trisomy 21 syndrome

has related synonym

leukemia, megakaryoblastic, of Down syndrome

transient myeloproliferative disorder of Down syndrome

Down syndrome chromosome region

Down syndrome critical region

id

MONDO:0008608

term tracker item

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