partial duplication of the short arm of chromosome 3

partial duplication of the short arm of chromosome 3

http://purl.obolibrary.org/obo/MONDO_0016940

Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. 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 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person. [ GARD:0005343 ]

Synonyms: partial trisomy of chromosome 3p partial duplication of chromosome 3p partial trisomy of the short arm of chromosome 3 partial duplication of the short arm of chromosome type 3

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Term mappings

This is just here as a test because I lose it

Term information

database cross reference

icd11.foundation:514472294 (https://orcid.org/0000-0002-4142-7153)
Orphanet:262707 (MONDO:equivalentTo)
UMLS:C5679720 (MONDO:equivalentTo)
MEDGEN:1826042 (MONDO:equivalentTo)
MESH:C536811 (MONDO:equivalentTo)
GARD:5343 (MONDO:GARD)

Subsets

gard_rare, disease_grouping, rare, ordo_group_of_disorders

IAO 0000233

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

exactMatch

http://identifiers.org/medgen/1826042

http://identifiers.org/mesh/C536811

http://linkedlifedata.com/resource/umls/id/C5679720

http://www.orpha.net/ORDO/Orphanet_262707

has related synonym

3p trisomy

trisomy 3p

3p duplication

Duplication 3p

partial trisomy 3p

chromosome 3p duplication

MONDO:0016940

Term relations

Subclass of:

partial duplication of chromosome 3