JSON

chromosome 12p deletion

Go to external page http://purl.obolibrary.org/obo/MONDO_0022174

A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12. [ NCIT:C36410 ]

Synonyms: partial deletion of the short arm of chromosome 12 partial monosomy of chromosome 12p partial monosomy of the short arm of chromosome 12 partial deletion of the short arm of chromosome type 12 partial deletion of chromosome 12p

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:316244 (MONDO:equivalentTo)
  • NCIT:C36410 (MONDO:relatedTo)
  • GARD:21404 (MONDO:GARD)
  • MEDGEN:208640 (MONDO:equivalentTo)
  • MESH:C538302 (MONDO:equivalentTo)
  • UMLS:C0795844 (MONDO:equivalentTo)
  • MESH:C538301 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, ordo_group_of_disorders

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C0795844

http://www.orpha.net/ORDO/Orphanet_316244

http://identifiers.org/medgen/208640

http://identifiers.org/mesh/C538301

http://identifiers.org/mesh/C538302

has related synonym

monosomy 12p

deletion 12p

del(12p)

12p del

partial monosomy 12p

12p-

12p deletion

12p monosomy

loss of chromosome 12p

id

MONDO:0022174

relatedMatch

http://purl.obolibrary.org/obo/NCIT_C36410

seeAlso

https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion

Term relations