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partial deletion of the long arm of chromosome 8

Go to external page http://purl.obolibrary.org/obo/MONDO_0016907

Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. [ GARD:0003770 ]

Synonyms: partial monosomy of the long arm of chromosome 8 partial deletion of chromosome 8q partial monosomy of chromosome 8q partial deletion of the long arm of chromosome type 8

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:208638 (MONDO:equivalentTo)
  • MESH:C537828 (MONDO:equivalentTo)
  • GARD:3770 (MONDO:GARD)
  • UMLS:C0795828 (MONDO:equivalentTo)
  • Orphanet:262065 (MONDO:equivalentTo)
  • icd11.foundation:653068448 (https://orcid.org/0000-0001-5208-3432)
Subsets

gard_rare, disease_grouping, rare, ordo_group_of_disorders

IAO 0000233

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

exactMatch

http://identifiers.org/mesh/C537828

http://identifiers.org/medgen/208638

http://www.orpha.net/ORDO/Orphanet_262065

http://linkedlifedata.com/resource/umls/id/C0795828

has related synonym

chromosome 8q deletion

8q monosomy

deletion 8q

partial monosomy 8q

8q deletion

monosomy 8q

id

MONDO:0016907

Term relations