raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:262677

Partial duplication of chromosome 17 syndrome

Synonyms: Partial trisomy of chromosome 17

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 17 syndromePartial trisomy of chromosome 17
frSyndrome de duplication partielle du chromosome 17Trisomie partielle du chromosome 17
deChromosom 17-Duplikation, partiellePartielle Trisomie des Chromosoms 17
esSíndrome de duplicación parcial del cromosoma 17Trisomía parcial del cromosoma 17
itSindrome duplicazione parziale del cromosoma 17Trisomia parziale del cromosoma 17
nlPartiële duplicatie van chromosoom 17-syndroomPartiële trisomie van chromosoom 17
ptTrissomia parcial do cromossoma 17
plZespół częściowej duplikacji chromosomu 17Częściowa trisomia chromosomu 17
csParciální duplikace chromozomu 17Parciální trizomie chromozomu 17
ukЧасткова дуплікація хромосоми 17Часткова трисомія хромосоми 17
zh17号染色体部分重复17号染色体部分三体
tr17. kromozomun kısmi duplikasyonu17. kromozomun kısmi trizomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016935Evalidated
MONDO16935Evalidated
UMLSC4518505Evalidated

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