raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:262196

Partial duplication of chromosome 2 syndrome

Synonyms: Partial trisomy of chromosome 2

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enPartial duplication of chromosome 2 syndromePartial trisomy of chromosome 2
frSyndrome de duplication partielle du chromosome 2Trisomie partielle du chromosome 2
deChromosom 2-Duplikation, partiellePartielle Trisomie des Chromosoms 2
esSíndrome de duplicación parcial del cromosoma 2Trisomía parcial del cromosoma 2
itSindrome duplicazione parziale del cromosoma 2Trisomia parziale del cromosoma 2
nlPartiële duplicatie van chromosoom 2-syndroomPartiële trisomie van chromosoom 2
ptTrissomia parcial do cromossoma 2
plZespół częściowej duplikacji chromosomu 2Częściowa trisomia chromosomu 2
csParciální duplikace chromozomu 2Parciální trizomie chromozomu 2
ukЧасткова дуплікація хромосоми 2Часткова трисомія за хромосомою 2
zh2号染色体部分重复2号染色体部分三体
tr2. kromozomun kısmi duplikasyonu2. kromozomun kısmi trizomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016922Evalidated
MONDO16922Evalidated
UMLSC4518490Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (2):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card