ORPHA:364803
Rare bone disease related to a common gene or pathway defect
- 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 | Rare bone disease related to a common gene or pathway defect | |
| fr | Maladie osseuse rare liée à un même gène ou une même voie | |
| de | Seltene Knochenkrankheit bei häufigem Gen- oder Stoffwechseldefekt | |
| es | Enfermedad ósea rara ligada a un defecto en mismo gen o en una misma vía | |
| it | Malattia ossea rara associata a difetto nello stesso gene o pathway | |
| nl | Zeldzame botziekte gerelateerd aan een algemeen gen- of pathwaydefect | |
| pt | Doença óssea rara relacionada a um gene comum ou defeito da via | |
| pl | Rzadka choroba kości związana z defektem znanego genu lub szlaku | |
| cs | Vzácné kostní nemoci související s poruchami známých genů nebo signálních drah | |
| uk | Рідкісне захворювання кісток, повязане із поширеним дефектом генів або шляхів | |
| zh | 常见基因或通路缺陷相关罕见骨病 | |
| tr | Yaygın bir gen veya yolak defekti -ilişkili nadir kemik hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680975 | 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:183524Rare genetic bone disease
rare genetic diseases
Children (9):
- ORPHA:93426Ciliopathies with major skeletal involvement
- ORPHA:371195Congenital disorder of glycosylation-related bone disorder
- ORPHA:93420FGFR3-related chondrodysplasia
- ORPHA:93425Filamin-related bone disorder
- ORPHA:674499Proteoglycan-related bone disorder
- ORPHA:93423Sulfation-related bone disorder
- ORPHA:364820TRPV4-related bone disorder
- ORPHA:93422Type 11 collagen-related bone disorder
- ORPHA:93421Type 2 collagen-related bone disorder
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/364803
- This record as JSON: /data/d/364803.json