raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:209030

Qualitative or quantitative defects of protein O-mannosyltransferase 1

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
enQualitative or quantitative defects of protein O-mannosyltransferase 1
frAnomalie qualitative ou quantitative de la protéine O-mannosyltransférase 1
deProtein-O-mannosyltransferase 1, qualitative oder quantitative Defekte
esAnomalías cualitativas o cuantitativas de la proteína O-manosiltransferasa 1
itAlterazioni qualitative o quantitative della proteina O-mannosil-transferasi 1
nlKwalitatieve of kwantitatieve defecten van eiwit O-mannosyltransferase 1
ptDeficiências qualitativas e quantitativas da proteína O-manosiltransferase 1
plDefekty jakościowe lub ilościowe białka O-mannozylotransferazy 1
csKvalitativní nebo kvantitativní defekty proteinu O-mannosyltransferázy 1
ukЯкісні або кількісні дефекти білка О-манозилтрансферази 1
zh蛋白质O-甘露糖基转移酶1定性或定量缺陷
trProtein O-mannosiltransferaz 1'in kalitatif veya kantitatif defekti
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016184Evalidated
MONDO16184Evalidated
UMLSC5680849Evalidated

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