ORPHA:309778
Defect in V-ATPase
- 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 | Defect in V-ATPase | |
| fr | Anomalie de la V-ATPase | |
| de | V-ATPase-Defekt | |
| es | Defecto de la V-ATPasa | |
| it | Difetto di V-ATPasi | |
| nl | Defect in V-ATPase | |
| pt | Defeito na V-ATPase | |
| pl | Defekt V-ATP-azy | |
| cs | Defekty V-ATPázy | |
| uk | Дефект V-АТФази | |
| zh | V-ATP酶缺陷 | |
| tr | V-ATPaz defekti |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017752 | E | validated | |
| MONDO | 17752 | E | validated | |
| UMLS | C5681038 | 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:309526Disorder of multiple glycosylation
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/309778
- This record as JSON: /data/d/309778.json