ORPHA:309526
Disorder of multiple glycosylation
- 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 | Disorder of multiple glycosylation | |
| fr | Anomalies multiples de la glycosylation | |
| de | Störung der multiplen Glykosylierung | |
| es | Trastornos de la glicosilación múltiple | |
| it | Disturbo della glicosilazione multipla | |
| nl | Stoornis van meervoudige glycosylatie | |
| pt | Alteração de glicosilação múltipla | |
| pl | Zaburzenia glikozylacji złożonej | |
| cs | Poruchy mnohočetné glykosylace | |
| uk | Порушення множинного глікозилювання | |
| zh | 多发性糖基化障碍 | |
| tr | Çoklu glikozilasyon bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C54.2 | E | specific | validated |
| MONDO | 0017749 | E | validated | |
| MONDO | 17749 | E | validated | |
| UMLS | C5681039 | 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:137Congenital disorder of glycosylation
rare inborn errors of metabolism; rare genetic diseases
Children (18):
- ORPHA:79332B4GALT1-CDG
- ORPHA:448010CAD-CDG
- ORPHA:468684CCDC115-CDG
- ORPHA:98873Congenital dyserythropoietic anemia type II
- ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy
- ORPHA:91131DK1-CDG
- ORPHA:79322DPM1-CDG
- ORPHA:263494DPM3-CDG
- ORPHA:309778Defect in V-ATPase
- ORPHA:309568Defect in conserved oligomeric Golgi complex
- ORPHA:602GNE myopathy
- ORPHA:99843Leukocyte adhesion deficiency type II
- ORPHA:79323MPDU1-CDG
- ORPHA:443811PGM3-CDG
- ORPHA:238459SLC35A1-CDG
- ORPHA:356961SLC35A2-CDG
- ORPHA:324737SRD5A3-CDG
- ORPHA:466703TMEM199-CDG
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/309526
- This record as JSON: /data/d/309526.json