partial duplication of the long arm of chromosome 2

partial duplication of the long arm of chromosome 2

http://purl.obolibrary.org/obo/MONDO_0016953

Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material 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 duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. [ GARD:0005340 ]

Synonyms: partial trisomy of chromosome 2q partial duplication of chromosome 2q partial duplication of the long arm of chromosome type 2 partial trisomy of the long arm of chromosome 2

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Term mappings

This is just here as a test because I lose it

Term information

database cross reference

MEDGEN:162771 (MONDO:equivalentTo)
Orphanet:262842 (MONDO:equivalentTo)
GARD:5340 (MONDO:GARD)
icd11.foundation:472179859 (https://orcid.org/0000-0002-4142-7153)
MESH:C535367 (MONDO:equivalentTo)
UMLS:C0795805 (MONDO:equivalentTo)

Subsets

gard_rare, disease_grouping, rare, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3492

exactMatch

http://www.orpha.net/ORDO/Orphanet_262842

http://identifiers.org/medgen/162771

http://identifiers.org/mesh/C535367

http://linkedlifedata.com/resource/umls/id/C0795805

has related synonym

2q duplication

chromosome 2q duplication

trisomy 2q

Duplication 2q

2q trisomy

partial trisomy 2q

MONDO:0016953

Term relations

Subclass of:

partial duplication of chromosome 2