raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:209027

Qualitative or quantitative defects of protein glycosyltransferase-like

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 glycosyltransferase-like
frAnomalie qualitative ou quantitative de la protéine glycosyltransférase-like
deGlycosyltransferase-like Protein (LARGE-Gen), qualitative oder quantitative Defekte
esAnomalías cualitativas o cuantitativas de proteína similar a glucosiltransferasa
itAlterazioni qualitative o quantitative della proteina glicosiltransferasi-like
nlKwalitatieve of kwantitatieve defecten van eiwit glycosyltransferase-achtig
ptDeficiências qualitativas e quantitativas da proteína glicosiltransferase-like
plDefekty jakościowe lub ilościowe białka podobnego do glikozyltransferazy
csKvalitativní nebo kvantitativní defekty proteinu podobnému glykosyltransferáze
ukЯкісні або кількісні дефекти глікозилтрансферазоподібних білків
zh蛋白质糖基转移酶样定性或定量缺陷
trProtein glikosiltransferaz benzeri kalitatif veya kantitatif defekti
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO16183Evalidated
UMLSC5680850Evalidated

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):

No children.

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