ORPHA:209203
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
- 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 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - | |
| fr | Anomalie qualitative ou quantitative de la glucosamine (UDP-N-acétyl)-2-épimérase/N-acétylmannosamine kinase - | |
| de | UDP-N-Acetylglucosamin-2-Epimerase/N-Acetylmannosamin-Kinase, qualitative oder quantitative Defekte | |
| es | Anomalías cualitativas o cuantitativas de UDP-N-acetilglucosamina-2-epimerasa/N-acetilmanosamina quinasa | |
| it | Alterazioni qualitative o quantitative della glucosamina (UDP-N-acetil)-2-epimerasi/N-acetilmannosamina chinasi | |
| nl | Kwalitatieve of kwantitatieve defecten van glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - | |
| pt | Deficiências qualitativas e quantitativas de glucosamine (UDP-N-acetil)-2-epimerase/N-acetilmanosamine quinase | |
| pl | Defekty jakościowe lub ilościowe glikozamino (UDP-N-acetyl)-2-epimerazy/N-acetylomannozoamino kinazy | |
| cs | Kvalitativní nebo kvantitativní defekty glukosaminu (UDP-N-acetyl)-2-epimerázy/N-acetylmannosaminázy kinázy - | |
| uk | Якісні або кількісні дефекти глюкозамін (UDP-N-ацетил)-2-епімерази/N-ацетилманнозамінкінази | |
| zh | 葡萄糖胺（UDP-N-乙酰基）-2-差向异构酶/ N-乙酰甘露糖胺激酶的定性或定量缺陷 | |
| tr | Glukozamin (UDP-N-asetil) -2-epimeraz/N-asetilmannosamin kinazın kalitatif veya kantitatif defekti - |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16200 | E | validated | |
| UMLS | C5680837 | 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):
- ORPHA:207049Qualitative or quantitative protein defects in neuromuscular diseases
rare genetic diseases
Children (1):
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/209203
- This record as JSON: /data/d/209203.json