Preferred Name |
Senior-Loken syndrome 1 |
|
Synonyms |
Loken-Senior syndrome SLSN1 SENIOR-Loken syndrome 1 Senior-Loken syndrome renal dysplasia and retinal aplasia renal-retinal syndrome juvenile nephronophthisis with Leber amaurosis Senior-Loken syndrome 1 senior-loken syndrome-1 Senior-Loken syndrome caused by mutation in NPHP1 Senior-Loken syndrome type 1 NPHP1 Senior-Loken syndrome |
|
Definitions |
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0009962 |
|
altLabel |
Loken-Senior syndrome SLSN1 SENIOR-Loken syndrome 1 Senior-Loken syndrome renal dysplasia and retinal aplasia renal-retinal syndrome juvenile nephronophthisis with Leber amaurosis Senior-Loken syndrome 1 senior-loken syndrome-1 Senior-Loken syndrome caused by mutation in NPHP1 Senior-Loken syndrome type 1 NPHP1 Senior-Loken syndrome |
|
definition |
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. |
|
has_exact_synonym |
Senior-Loken syndrome 1 senior-loken syndrome-1 Senior-Loken syndrome caused by mutation in NPHP1 Senior-Loken syndrome type 1 NPHP1 Senior-Loken syndrome |
|
has_related_synonym |
Loken-Senior syndrome SLSN1 SENIOR-Loken syndrome 1 Senior-Loken syndrome renal dysplasia and retinal aplasia renal-retinal syndrome juvenile nephronophthisis with Leber amaurosis |
|
IAO_0000233 | ||
label |
Senior-Loken syndrome 1 |
|
prefixIRI |
MONDO:0009962 |
|
prefLabel |
Senior-Loken syndrome 1 |
|
textual definition |
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. |
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subClassOf |