ORPHA:209024
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Synonyms: Qualitative or quantitative defects of protein POMGNT1
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase | Qualitative or quantitative defects of protein POMGNT1 |
| fr | Anomalie qualitative ou quantitative de la protéine O-mannose bêta1,2N-acétylglucosaminyltransférase | Anomalie qualitative ou quantitative de la protéine POMGNT1 |
| de | Protein-O-Mannose-?-1,2-N-acetylglucosaminyl-Transferase, qualitative oder quantitative Defekte | |
| es | Anomalías cualitativas o cuantitativas de la proteína O-manosa beta 1,2N-N-acetilglucosamina transferasa | Anomalías cualitativas o cuantitativas de la proteína POMGNT1 |
| it | Alterazioni qualitative o quantitative della proteina O-mannosio beta1,2N-acetil glucosamina transferasi | Alterazioni qualitative o quantitative della proteina POMGNT1 |
| nl | Kwalitatieve of kwantitatieve defecten van eiwit O-mannose bèta-1,2-N-acetylglucosaminyltransferase | Kwalitatieve of kwantitatieve defecten van eiwit POMGNT1 |
| pt | Deficiências qualitativas e quantitativas da proteína O-manose beta1,2N-acetilglucosaminiltransferase | |
| pl | Defekty jakościowe lub ilościowe białka O-mannozo beta1,2N-acetyloglukozaminylotransferazy | Defekty jakościowe lub ilościowe białka POMGNT1 |
| cs | Kvalitativní nebo kvantitativní defekty proteinu O-manózy beta1,2N-acetylglukosaminyltransferázy | Kvalitativní nebo kvantitativní defekty proteinu POMGNT1 |
| uk | Якісні або кількісні дефекти білкової О-манозної бета1,2N-ацетилглюкозамінілтрансферази | Якісні або кількісні дефекти білка POMGNT1 |
| zh | 蛋白质O-甘露糖β1,2N-乙酰氨基葡萄糖氨基转移酶定性或定量缺陷 | POMGNT1蛋白定性或定量缺陷 |
| tr | Protein O-mannoz beta1,2N-asetilglukozaminiltransferazın kalitatif veya kantitatif defekti | POMGNT1 proteininin kalitatif veya kantitatif defektleri |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16182 | E | validated | |
| UMLS | C5679796 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209024
- This record as JSON: /data/d/209024.json