partial duplication of the long arm of chromosome 6

partial duplication of the long arm of chromosome 6

http://purl.obolibrary.org/obo/MONDO_0016957

Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. 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 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person. [ GARD:0005353 ]

Synonyms: partial duplication of chromosome 6q partial trisomy of the long arm of chromosome 6 partial duplication of the long arm of chromosome type 6 partial trisomy of chromosome 6q

Tree view
Term mappings

This is just here as a test because I lose it

Term information

database cross reference

Orphanet:262878 (MONDO:equivalentTo)
GARD:5353 (MONDO:GARD)
MESH:C537812 (MONDO:equivalentTo)
icd11.foundation:149091243 (https://orcid.org/0000-0002-4142-7153)
MEDGEN:1826037 (MONDO:equivalentTo)
UMLS:C5679708 (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_262878

http://identifiers.org/medgen/1826037

http://identifiers.org/mesh/C537812

http://linkedlifedata.com/resource/umls/id/C5679708

has related synonym

trisomy 6q

partial trisomy 6q

chromosome 6q duplication

Duplication 6q

6q duplication

6q trisomy

MONDO:0016957

Term relations

Subclass of:

partial duplication of chromosome 6