raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:261771

Partial deletion of chromosome 2 syndrome

Synonyms: Partial monosomy of chromosome 2

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 2 syndromePartial monosomy of chromosome 2
frSyndrome de délétion partielle du chromosome 2Monosomie partielle du chromosome 2
deChromosom 2-Deletion, partiellePartielle Monosomie des Chromosoms 2
esSíndrome de deleción parcial del cromosoma 2Monosomía parcial del cromosoma 2
itSindrome delezione parziale del cromosoma 2Monosomia parziale del cromosoma 2
nlPartiële deletie van chromosoom 2-syndroomPartiële monosomie van chromosoom 2
ptMonossomia parcial do cromossoma 2
plZespół częściowej delecji chromosomu 2Cześciowa monosomia chromosomu 2
csParciální delece chromozomu 2Parciální monozomie chromozomu 2
ukЧасткова делеція хромосоми 2Часткова моносомія хромосоми 2
zh2号染色体部分缺失2号染色体部分单体
tr2. kromozomun kısmi delesyonu2. kromozomun kısmi monozomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016867Evalidated
MONDO16867Evalidated
UMLSC5679650Evalidated

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