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partial deletion of the long arm of chromosome 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0016901

Chromosome 2q 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 2. 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 2q 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:0003744 ]

Synonyms: partial monosomy of chromosome 2q partial deletion of chromosome 2q partial deletion of the long arm of chromosome type 2 partial monosomy of the long arm of chromosome 2

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0795804 (MONDO:equivalentTo)
  • icd11.foundation:754787315 (https://orcid.org/0000-0001-5208-3432)
  • MESH:C538315 (MONDO:equivalentTo)
  • MEDGEN:162770 (MONDO:equivalentTo)
  • GARD:3744 (MONDO:GARD)
  • Orphanet:262010 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, ordo_group_of_disorders

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/chromosomal_region_deletion.yaml

exactMatch

http://identifiers.org/medgen/162770

http://identifiers.org/mesh/C538315

http://linkedlifedata.com/resource/umls/id/C0795804

http://www.orpha.net/ORDO/Orphanet_262010

has related synonym

2q deletion

2q monosomy

deletion 2q

monosomy 2q

partial monosomy 2q

chromosome 2q deletion

id

MONDO:0016901

term tracker item

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