ORPHA:363250
Ciliopathy
- 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 | Ciliopathy | |
| fr | Ciliopathie | |
| de | Ziliopathie | |
| es | Ciliopatías | |
| it | Ciliopatia | |
| nl | Ciliopathie | |
| pt | Ciliopatia | |
| pl | Ciliopatia | |
| cs | Ciliopatie | |
| uk | Циліопатія | |
| zh | 睫状体病 | |
| tr | Siliyopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0005308 | E | validated | |
| MONDO | 5308 | E | validated | |
| MeSH | D000072661 | E | validated | |
| UMLS | C4277690 | 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:98053Rare genetic disease
rare genetic diseases
Children (13):
- ORPHA:122Birt-Hogg-Dubé syndrome
- ORPHA:65759Carpenter syndrome
- ORPHA:457378Complex lethal osteochondrodysplasia
- ORPHA:380Greig cephalopolysyndactyly syndrome
- ORPHA:658805Greig cephalopolysyndactyly-contiguous gene syndrome
- ORPHA:726824Hepatorenocardiac degenerative fibrosis
- ORPHA:2189Hydrolethalus
- ORPHA:464366NEK9-related lethal skeletal dysplasia
- ORPHA:557003Oculoskeletodental syndrome
- ORPHA:508501Orofaciodigital syndrome type 18
- ORPHA:156162Renal ciliopathy
- ORPHA:156165Retinal ciliopathy
- ORPHA:314394Short stature-onychodysplasia-facial dysmorphism-hypotrichosis 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/363250
- This record as JSON: /data/d/363250.json