raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:262191

Partial duplication of chromosome 1 syndrome

Synonyms: Partial trisomy of chromosome 1

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 1 syndromePartial trisomy of chromosome 1
frSyndrome de duplication partielle du chromosome 1Trisomie partielle du chromosome 1
deChromosom 1-Duplikation, partiellePartielle Trisomie des Chromosoms 1
esSíndrome de duplicación parcial del cromosoma 1Trisomía parcial del cromosoma 1
itSindrome duplicazione parziale del cromosoma 1Trisomia parziale del cromosoma 1
nlPartiële duplicatie van chromosoom 1-syndroomPartiële trisomie van chromosoom 1
ptTrissomia parcial do cromossoma 1
plZespół częściowej duplikacji chromosomu 1Częściowa trisomia chromosomu 1
csParciální duplikace chromozomu 1Parciální trizomie chromozomu 1
ukЧасткова дуплікація хромосоми 1Часткова трисомія за хромосомою 1
zh1号染色体部分重复1号染色体部分三体
tr1. kromozomun kısmi duplikasyonu1. kromozomun kısmi trizomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016921Evalidated
MONDO16921Evalidated
UMLSC4518488Evalidated

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