loading...| Preferred Name |
Senior-Loken syndrome |
|
| Synonyms |
SLSN Nephronophthisis with retinal dystrophy Renal dysplasia-retinal aplasia syndrome |
|
| Definitions |
A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_3156 |
|
| alternative_term |
SLSN Nephronophthisis with retinal dystrophy Renal dysplasia-retinal aplasia syndrome |
|
| definition |
A rare autosomal recessive oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3156 |
|
| has_age_of_onset |
Adolescent Adult Childhood Infancy |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
UMLS:C0403553 OMIM:606995 OMIM:606996 OMIM:616629 OMIM:614845 MedDRA:10084074 OMIM:616307 MeSH:C537580 OMIM:610189 ICD-10:Q61.5 OMIM:266900 ICD-11:9B70 OMIM:609254 OMIM:613615 |
|
| label |
Senior-Loken syndrome |
|
| notation |
ORPHA:3156 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_93587 http://www.orpha.net/ORDO/Orphanet_98661 |
|
| prefixIRI |
ORDO:Orphanet_3156 |
|
| prefLabel |
Senior-Loken syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : 1-9 / 1 000 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_93587 http://www.orpha.net/ORDO/Orphanet_98661 |
|
| subClassOf |