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Jacobsen syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007838

A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. [ https://orcid.org/0000-0001-5208-3432 Orphanet:2308 ]

Synonyms: distal monosomy 11q Jacobsen syndrome telomeric deletion 11q Del(11)(qter) distal deletion 11q 11q terminal deletion disorder Del(11)(q23.3) monosomy 11qter Jacobsen syndrome, Isolated cases

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:715438008 (MONDO:equivalentTo)
  • DOID:0111723 (MONDO:equivalentTo)
  • OMIM:147791 (Orphanet:2308/e)
  • UMLS:C0795841 (MONDO:equivalentTo)
  • NCIT:C75457 (MONDO:equivalentTo)
  • Orphanet:2308 (OMIM:147791)
  • MEDGEN:162878 (MONDO:equivalentTo)
  • GARD:307 (MONDO:GARD)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6744

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

exactMatch

http://identifiers.org/medgen/162878

https://omim.org/entry/147791

http://linkedlifedata.com/resource/umls/id/C0795841

http://identifiers.org/snomedct/715438008

http://www.orpha.net/ORDO/Orphanet_2308

http://purl.obolibrary.org/obo/NCIT_C75457

http://purl.obolibrary.org/obo/DOID_0111723

has related synonym

partial 11q monosomy syndrome

chromosome 11q deletion syndrome

JBS

id

MONDO:0007838