raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:262692

Partial duplication of chromosome 20 syndrome

Synonyms: Partial trisomy of chromosome 20

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 20 syndromePartial trisomy of chromosome 20
frSyndrome de duplication partielle du chromosome 20Trisomie partielle du chromosome 20
dePartielle Duplikation von Chromosom 20
esSíndrome de duplicación parcial del cromosoma 20Trisomía parcial del cromosoma 20
itSindrome duplicazione parziale del cromosoma 20Trisomia parziale del cromosoma 20
nlPartiële duplicatie van chromosoom 20-syndroomPartiële trisomie van chromosoom 20
ptDuplicação parcial do cromossoma 20Trissomia parcial do cromossoma 20
plZespół częściowej duplikacji chromosomu 20Częściowa duplikacja chromosomu 20
csParciální trizomie chromozomu 20Parciální duplikace chromozomu 20
ukЧасткова дуплікація хромосоми 20Часткова трисомія хромосоми 20
zh20号染色体部分三体20号染色体部分重复
tr20. kromozomun kısmi trizomisi20. kromozomun kısmi duplikasyonu
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016938Evalidated
MONDO16938Evalidated
UMLSC4518509Evalidated

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