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chromosome 18p deletion syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007800

Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. [ Orphanet:1598 ]

Synonyms: chromosome 18p deletion syndrome De Grouchy syndrome partial deletion of the short arm of chromosome 18 partial monosomy of chromosome 18p chromosome 18p deletion partial deletion of the short arm of chromosome type 18 partial monosomy of the short arm of chromosome 18 monosomy 18p partial deletion of chromosome 18p 18p- 18p syndrome deletion 18p syndrome monosomy type 18p

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0060406 (MONDO:equivalentTo)
  • ICD9:758.39 (MONDO:relatedTo)
  • OMIM:146390 (Orphanet:1598/e)
  • SCTID:270890001 (MONDO:equivalentTo)
  • icd11.foundation:121037615 (https://orcid.org/0000-0001-5208-3432)
  • NCIT:C84521 (MONDO:equivalentTo)
  • MEDGEN:96604 (MONDO:equivalentTo)
  • UMLS:C0432442 (MONDO:equivalentTo)
  • Orphanet:1598 (OMIM:146390)
  • GARD:8631 (MONDO:GARD)
  • Orphanet:261974 (MONDO:equivalentTo)
  • MESH:C538309 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, disease_grouping, rare, nord_rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3664

exactMatch

http://identifiers.org/mesh/C538309

http://linkedlifedata.com/resource/umls/id/C0432442

http://identifiers.org/snomedct/270890001

http://purl.obolibrary.org/obo/DOID_0060406

http://www.orpha.net/ORDO/Orphanet_261974

http://identifiers.org/medgen/96604

http://purl.obolibrary.org/obo/NCIT_C84521

http://www.orpha.net/ORDO/Orphanet_1598

https://omim.org/entry/146390

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020226

id

MONDO:0007800