ORPHA:371207
Congenital disorder of glycosylation with nephropathy as a major feature
Synonyms: CDG with nephropathy as a major feature
- 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 | Congenital disorder of glycosylation with nephropathy as a major feature | CDG with nephropathy as a major feature |
| fr | Anomalie congénitale de la glycosylation avec une néphropathie comme manifestation majeure | CDG avec une néphropathie comme manifestation majeure |
| de | Kongenitale Glykosylierungsstörung mit Nephropathie als Hauptmerkmal | CDG mit Nephropathie als Hauptmerkmal |
| es | Trastorno congénito de la glicosilación con nefropatía como característica principal | CDG con nefropatía como característica principal |
| it | Disturbo congenito della glicosilazione con nefropatia come segno cardinale | CDG con nefropatia come segno cardinale |
| nl | Congenitale glycosylatiestoornis met nefropathie als hoofdkenmerk | CDG met nefropathie als hoofdkenmerk |
| pt | Doença congénita de glicosilação com nefropatia como característica principal | |
| pl | Wrodzone zaburzenie glikozylacji z nefropatią jako objawem głównym | CDG z nefropatią jako objawem głównym |
| cs | Vrozená porucha glykosylace s nefropatií jako hlavním příznakem | CDG s nefropatií jako hlavním příznakem |
| uk | Вроджене порушення глікозилювання з нефропатією як основною ознакою | CDG з нефропатією як основною ознакою |
| zh | 以肾病为主要特征的先天性糖基化障碍 | 以肾病为主要特征的CDG |
| tr | Esas klinik özelliği nefropati olan doğumsal glikozilasyon bozukluğu | Esas klinik özelliği nefropati olan CDG |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18294 | E | validated | |
| UMLS | C5680019 | 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:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal 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/371207
- This record as JSON: /data/d/371207.json