raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:261846

Partial deletion of chromosome 20 syndrome

Synonyms: Partial monosomy of chromosome 20

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 deletion of chromosome 20 syndromePartial monosomy of chromosome 20
frSyndrome de délétion partielle du chromosome 20Monosomie partielle du chromosome 20
deChromosom 20-Deletion, partiellePartielle Monosomie des Chromosoms 20
esSíndrome de deleción parcial del cromosoma 20Monosomía parcial del cromosoma 20
itSindrome delezione parziale del cromosoma 20Monosomia parziale del cromosoma 20
nlPartiële deletie van chromosoom 20-syndroomPartiële monosomie van chromosoom 20
ptMonossomia parcial do cromossoma 20
plZespół częściowej delecji chromosomu 20Cześciowa monosomia chromosomu 20
csParciální delece chromozomu 20Parciální monozomie chromozomu 20
ukЧасткова делеція хромосоми 20Часткова моносомія хромосоми 20
zh20号染色体部分缺失20号染色体部分单体
tr20. kromozomun kısmi delesyonu20. kromozomun kısmi monozomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016882Evalidated
MONDO16882Evalidated
UMLSC5679662Evalidated

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