raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:263726

Partial deletion of chromosome X syndrome

Synonyms: Partial monosomy of chromosome X

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 X syndromePartial monosomy of chromosome X
frSyndrome de délétion partielle du chromosome xMonosomie partielle du chromosome X
deChromosom X-Deletion, partiellePartielle Monosomie des Chromosom X
esSíndrome de deleción parcial del cromosoma XMonosomía parcial del cromosoma X
itSindrome delezione parziale del cromosoma XMonosomia parziale del cromosoma X
nlPartiële deletie van chromosoom X-syndroomPartiële monosomie van chromosoom X
ptDeleção parcial do cromossoma X
plZespół częściowej delecji chromosomu XCzęściowa monosomia chromosomu X
csParciální delece chromozomu XParciální monozomie chromozomu X
ukЧасткова делеція хромосоми ХЧасткова моносомія хромосоми Х
zhX染色体部分缺失X染色体部分单体
trX kromozomunun kısmi delesyonuKromozom X in kısmi monozomisi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0017003Evalidated
MONDO17003Evalidated
UMLSC5679690Evalidated

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