loading...| Preferred Name |
Senior-Loken syndrome |
|
| Synonyms |
Senior Loken syndrome renal dysplasia retinal aplasia renal dysplasia-retinal aplasia syndrome Loken Senior syndrome renal-retinal syndrome nephronophthisis with retinal dystrophy SLSN |
|
| Definitions |
Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017842 |
|
| database_cross_reference |
UMLS:C0403553 Orphanet:3156 DOID:0050576 NANDO:1201049 NCIT:C168588 OMIMPS:266900 MESH:C537580 GARD:322 |
|
| definition |
Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0403553 http://purl.obolibrary.org/obo/Orphanet_3156 https://omim.org/phenotypicSeries/PS266900 http://purl.obolibrary.org/obo/NCIT_C168588 |
|
| has_exact_synonym |
renal dysplasia-retinal aplasia syndrome Loken Senior syndrome renal-retinal syndrome nephronophthisis with retinal dystrophy SLSN |
|
| has_related_synonym |
Senior Loken syndrome renal dysplasia retinal aplasia |
|
| id |
MONDO:0017842 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
Senior-Loken syndrome |
|
| notation |
MONDO:0017842 |
|
| preferred label |
Senior-Loken syndrome |
|
| prefLabel |
Senior-Loken syndrome |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003900 |