ORPHA:404568
Dysostosis of genetic origin
- 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 | Dysostosis of genetic origin | |
| fr | Dysostose d'origine génétique | |
| de | Dysostose, genetisch bedingte | |
| es | Disostosis de origen genético | |
| it | Disostosi di origine genetica | |
| nl | Dysostose van genetische oorsprong | |
| pt | Disostose genética | |
| pl | Dyzostoza pochodzenia genetycznego | |
| cs | Dysostózy genetického původu | |
| uk | Генетично обумовлений дизостоз | |
| zh | 遗传性骨发育不全 | |
| tr | Genetik kökenli disostoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18454 | E | validated | |
| UMLS | C5681144 | 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:404584Rare genetic bone development disorder
rare genetic diseases - ORPHA:183524Rare genetic bone disease
rare genetic diseases
Children (6):
- ORPHA:66630Congenital pseudoarthrosis of the clavicle
- ORPHA:1531Craniosynostosis
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
- ORPHA:93453Dysostosis with predominant craniofacial involvement
- ORPHA:93454Dysostosis with predominant vertebral and costal involvement
- ORPHA:93455Patellar dysostosis
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/404568
- This record as JSON: /data/d/404568.json