ORPHA:309144
Gangliosidosis
- 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 | Gangliosidosis | |
| fr | Gangliosidose | |
| de | Gangliosidose | |
| es | Gangliosidosis | |
| it | Gangliosidosi | |
| nl | Gangliosidose | |
| pt | Gangliosidose | |
| pl | Gangliozydoza | |
| cs | Gangliosidóza | |
| uk | Гангліозидоз | |
| zh | 神经节苷脂贮积症 | |
| tr | Gangliosidoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C56.00 | E | specific | validated |
| MONDO | 0017719 | E | validated | |
| MONDO | 17719 | E | validated | |
| MeSH | D005733 | E | validated | |
| UMLS | C0017083 | E | validated | |
| GARD | 12510 | 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 (2):
- ORPHA:79225Sphingolipidosis
rare inborn errors of metabolism; rare genetic diseases; rare transplant-related disorders - ORPHA:371442Sphingolipidosis with epilepsy
rare genetic diseases; rare neurological 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/309144
- This record as JSON: /data/d/309144.json