ORPHA:308993
Glycerol kinase deficiency
- Type
- Clinical group
- 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 | Glycerol kinase deficiency | |
| fr | Déficit en glycérol kinase | |
| de | Glycerol-Kinase-Mangel | |
| es | Deficiencia de glicerol quinasa | |
| it | Deficit di glicerolo chinasi | |
| nl | Glycerolkinasedeficiëntie | |
| pt | Défice de glicerol quinase | |
| pl | Niedobór kinazy glicerolu | |
| cs | Deficit glycerolkinázy | |
| uk | Дефіцит гліцеролкінази | |
| zh | 甘油激酶缺乏症 | |
| tr | Gliserol kinaz eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 10613 | E | validated | |
| UMLS | C0268418 | 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:79179Disorder of glycerol metabolism
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/308993
- This record as JSON: /data/d/308993.json