raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:262638

Partial duplication of chromosome 8 syndrome

Synonyms: Partial trisomy of chromosome 8

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 8 syndromePartial trisomy of chromosome 8
frSyndrome de duplication partielle du chromosome 8Trisomie partielle du chromosome 8
deChromosom 8-Duplikation, partiellePartielle Trisomie des Chromosoms 8
esSíndrome de duplicación parcial del cromosoma 8Trisomía parcial del cromosoma 8
itSndrome duplicazione parziale del cromosoma 8Trisomia parziale del cromosoma 8
nlPartiële duplicatie van chromosoom 8-syndroomPartiële trisomie van chromosoom 8
ptTrissomia parcial do cromossoma 8
plZespół częściowej duplikacji chromosomu 8Częściowa trisomia chromosomu 8
csParciální duplikace chromozomu 8Parciální trizomie chromozomu 8
ukЧасткова дуплікація хромосоми 8Часткова трисомія хромосоми 8
zh8号染色体部分重复8号染色体部分三体
tr8. kromozomun kısmi duplikasyonu8. kromozomun kısmi trizomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016929Evalidated
MONDO16929Evalidated
MeSHC537941Evalidated
UMLSC2931671Evalidated

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