raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98152

Autosomal uniparental disomy syndrome

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
enAutosomal uniparental disomy syndrome
frSyndrome de disomie uniparentale des autosomes
deUniparentale Disomie, autosomale
esSíndrome de disomía autosómica uniparental
itSindrome disomia uniparentale autosomica
nlAutosomale uniparentale disomie-syndroom
ptDissomia uniparental autossómica
plZespół jednorodzicielskiej disomii autosomalnej
csUniparentální dizomie autozomů
ukАутосомна уніпарентна дисомія
zh常染色体单亲二体
trOtozomal uniparental dizomi
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
UMLSC5681500Evalidated

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 (3):

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