JSON

partial deletion of the long arm of chromosome 14

^ http://purl.obolibrary.org/obo/MONDO_0016912

Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. [ GARD:0003722 ]

Term info

database cross reference
  • Orphanet:262110 (MONDO:equivalentTo)
  • GARD:0003722 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

IAO 0000233

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

definition

Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_262110

has exact synonym

partial deletion of the long arm of chromosome type 14, partial monosomy of the long arm of chromosome 14, partial monosomy of chromosome 14q, partial deletion of chromosome 14q

has related synonym

monosomy 14q, deletion 14q, chromosome 14q deletion, 14q monosomy, partial monosomy 14q, 14q deletion

id

MONDO:0016912