raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:262206

Partial duplication of chromosome 4 syndrome

Synonyms: Partial trisomy of chromosome 4

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 4 syndromePartial trisomy of chromosome 4
frSyndrome de duplication partielle du chromosome 4Trisomie partielle du chromosome 4
deChromosom 4-Duplikation, partiellePartielle Trisomie des Chromosoms 4
esSíndrome de duplicación parcial del cromosoma 4Trisomía parcial del cromosoma 4
itSindrome duplicazione parziale del cromosoma 4Trisomia parziale del cromosoma 4
nlPartiële duplicatie van chromosoom 4-syndroomPartiële trisomie van chromosoom 4
ptTrissomia parcial do cromossoma 4
plZespół częściowej duplikacji chromosomu 4Częściowa trisomia chromosomu 4
csParciální duplikace chromozomu 4Parciální trizomie chromozomu 4
ukЧасткова дуплікація хромосоми 4Часткова трисомія за хромосомою 4
zh4号染色体部分重复4号染色体部分三体
tr4. kromozomun kısmi duplikasyonu4. kromozomun kısmi trizomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016924Evalidated
MONDO16924Evalidated
UMLSC4518492Evalidated

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