ORPHA:371235
Congenital disorder of glycosylation with developmental anomaly
Synonyms: CDG with developmental anomaly
- 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 | Congenital disorder of glycosylation with developmental anomaly | CDG with developmental anomaly |
| fr | Anomalie congénitale de la glycosylation avec anomalie du développement | CDG avec anomalie du développement |
| de | Kongenitale Glykosylierungsstörung mit Entwicklungsanomalie | CDG mit Entwicklungsanomalie |
| es | Trastorno congénito de la glicosilación con anomalías del desarrollo | CDG con anomalías del desarrollo |
| it | Disturbo congenito della glicosilazione con anomalia dello sviluppo | CDG con anomalia dello sviluppo |
| nl | Congenitale glycosylatiestoornis met ontwikkelingsanomalie | CDG met ontwikkelingsanomalie |
| pt | Doença congénita de glicosilação com anomalia do desenvolvimento | |
| pl | Wrodzone zaburzenie glikozylacji z wadą rozwojową | CDG z wadą rozwojową |
| cs | Vrozená porucha glykosylace s vývojovými anomáliemi | CDG s vývojovými anomáliemi |
| uk | Вроджене порушення глікозилювання з аномалією розвитку | CDG з аномалією розвитку |
| zh | 先天性糖基化障碍伴发育异常 | CDG伴发育异常 |
| tr | Gelişimsel anomali ile seyreden doğumsal glikozilasyon bozukluğu | Gelişimsel anomali ile seyreden CDG |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18296 | E | validated | |
| UMLS | C5680018 | 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:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (12):
- ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- ORPHA:79332B4GALT1-CDG
- ORPHA:371183Congenital disorder of glycosylation with cardiac malformation as a major feature
- ORPHA:371212Congenital disorder of glycosylation with deafness as a major feature
- ORPHA:371195Congenital disorder of glycosylation-related bone disorder
- ORPHA:272Congenital muscular dystrophy, Fukuyama type
- ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome
- ORPHA:300496Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- ORPHA:588Muscle-eye-brain disease
- ORPHA:356961SLC35A2-CDG
- ORPHA:899Walker-Warburg syndrome
- ORPHA:370930XYLT1-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/371235
- This record as JSON: /data/d/371235.json