ORPHA:371195
Congenital disorder of glycosylation-related bone disorder
Synonyms: CDG-related bone disorder
- 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-related bone disorder | CDG-related bone disorder |
| fr | Maladie osseuse liée à une anomalie congénitale de la glycosylation | Maladie osseuse liée à une CDG |
| de | Kongenitale Glykosylierungsstörung mit assoziierter Knochenerkrankung | CDG-assoziierte Kochenkrankheit |
| es | Trastorno congénito de la glicosilación asociado a un trastorno óseo | Trastorno óseo asociado a CDG |
| it | Malattia ossea correlata a disturbo congenito della glicosilazione | Malattia ossea CDG-correlata |
| nl | Botstoornis gerelateerd aan congenitale glycosylatiestoornis | CDG-gerelateerde botstoornis |
| pt | Doença óssea glicosilação-relacionada congénita | |
| pl | Wrodzone zaburzenie glikozylacji związane z zaburzeniami kostnymi | CDG związane z zaburzeniami kostnymi |
| cs | Kostní porucha související s vrozenou poruchou glykosylace | Kostní porucha související s CDG |
| uk | Хвороба кісток, повязана з вродженим порушенням глікозилювання | Порушення кісткової тканини, повязані з CDG |
| zh | 先天性糖基化相关骨疾病 | CDG相关骨病 |
| tr | Glikozilasyon-ilişkili kemik bozukluğunun doğumsal bozukluğu | CDG-ilişkili kemik bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18292 | E | validated | |
| UMLS | C5679908 | 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 (2):
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:364803Rare bone disease related to a common gene or pathway defect
rare genetic diseases
Children (13):
- ORPHA:357058Autosomal recessive cutis laxa type 2A
- ORPHA:2311Autosomal recessive spondylocostal dysostosis
- ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:263463CHST3-related skeletal dysplasia
- ORPHA:263508COG1-CDG
- ORPHA:247262Hyperphosphatasia-intellectual disability syndrome
- ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:284139Larsen-like syndrome, B3GAT3 type
- ORPHA:321Multiple osteochondromas
- ORPHA:3144Schneckenbecken dysplasia
- ORPHA:314667TMEM165-CDG
- ORPHA:363417Temtamy preaxial brachydactyly syndrome
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/371195
- This record as JSON: /data/d/371195.json