ORPHA:156162
Renal 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 | Renal ciliopathy | |
| fr | Ciliopathie rénale | |
| de | Renale Ziliopathie | |
| es | Ciliopatía renal | |
| it | Ciliopatia renale | |
| nl | Ciliopathie van nier | Renale ciliopathie |
| pt | Ciliopatia renal | |
| pl | Rzęskopatia z towarzyszącą nefronoftyzą | Cilipatia nerkowa |
| cs | Renální nefropatie | |
| uk | Ниркова циліопатія | |
| zh | 肾病相关纤毛类疾病 | |
| tr | Nefropati -ilişkili siliyopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680652 | 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:363250Ciliopathy
rare genetic diseases
Children (31):
- ORPHA:2666Adult familial nephronophthisis-spastic quadriparesia syndrome
- ORPHA:64Alström syndrome
- ORPHA:730Autosomal dominant polycystic kidney disease
- ORPHA:88924Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- ORPHA:731Autosomal recessive polycystic kidney disease
- ORPHA:110Bardet-Biedl syndrome
- ORPHA:1515Cranioectodermal dysplasia
- ORPHA:289Ellis-Van Creveld syndrome
- ORPHA:474Jeune syndrome
- ORPHA:1454Joubert syndrome with hepatic defect
- ORPHA:2318Joubert syndrome with oculorenal defect
- ORPHA:220497Joubert syndrome with renal defect
- ORPHA:444069Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
- ORPHA:439897Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- ORPHA:88949MUC1-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:2473McKusick-Kaufman syndrome
- ORPHA:564Meckel syndrome
- ORPHA:500135Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
- ORPHA:655Nephronophthisis
- ORPHA:534Oculocerebrorenal syndrome of Lowe
- ORPHA:352540Oncogenic osteomalacia
- ORPHA:672Pallister-Hall syndrome
- ORPHA:140976RHYNS syndrome
- ORPHA:294415Renal-hepatic-pancreatic dysplasia
- ORPHA:140969Saldino-Mainzer syndrome
- ORPHA:84081Senior-Boichis syndrome
- ORPHA:3156Senior-Loken syndrome
- ORPHA:506307Stromme syndrome
- ORPHA:805Tuberous sclerosis complex
- ORPHA:88950UMOD-related autosomal dominant tubulointerstitial kidney disease
- ORPHA:892Von Hippel-Lindau disease
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/156162
- This record as JSON: /data/d/156162.json