ORPHA:309279
Glycoproteinosis
- 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| Lang | Name | Synonyms |
|---|---|---|
| en | Glycoproteinosis | |
| fr | Glycoprotéinose | |
| de | Glycoproteinose | |
| es | Glucoproteinosis | |
| it | Glicoproteinosi | |
| nl | Glycoproteïnose | |
| pt | Glicoproteinose | |
| pl | Glikoproteinoza | |
| cs | Glykoproteinóza | |
| uk | Глікопротеїноз | |
| zh | 糖蛋白病 | |
| tr | Glikoproteinoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C56.2 | E | specific | validated |
| MONDO | 0017731 | E | validated | |
| MONDO | 17731 | E | validated | |
| UMLS | C5681075 | E | validated | |
| GARD | 10670 | E | validated |
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):
- ORPHA:68366Lysosomal disease
rare inborn errors of metabolism; rare genetic diseases
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309279
- This record as JSON: /data/d/309279.json