raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:263768

Partial duplication of chromosome X syndrome

Synonyms: Partial trisomy of chromosome X

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 X syndromePartial trisomy of chromosome X
frSyndrome de duplication partielle du chromosome xTrisomie partielle du chromosome X
deChromosom X-Duplikation, partiellePartielle Trisomie des Chromosom X
esSíndrome de duplicación parcial del cromosoma XTrisomía parcial del cromosoma X
itSindrome duplicazione parziale del cromosoma XTrisomia parziale del cromosoma X
nlPartiële duplicatie van chromosoom X-syndroomPartiële trisomie van chromosoom X
ptDuplicação parcial do cromossoma X
plZespół częściowej duplikacji chromosomu XCzęściowa trisomia chromosomu X
csParciální duplikace chromozomu XParciální trizomie chromozomu X
ukЧасткова дуплікація хромосоми ХЧасткова трисомія хромосоми Х
zhX染色体部分重复X染色体部分三体
trX kromozomunun kısmi duplikasyonuKromozom X in kısmi trizomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0017008Evalidated
MONDO17008Evalidated
UMLSC5679687Evalidated

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