loading...| Preferred Name |
Senior-Loken syndrome 1 |
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| 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 caused by mutation in NPHP1 Senior-Loken syndrome type 1 NPHP1 Senior-Loken syndrome |
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| Definitions |
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009962 |
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| closeMatch | ||
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml |
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| database_cross_reference |
SCTID:236531005 ICD9:759.89 OMIM:266900 |
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| disease has basis in dysfunction of | ||
| exactMatch | ||
| has exact synonym |
Senior-Loken syndrome 1 Senior-Loken syndrome caused by mutation in NPHP1 Senior-Loken syndrome type 1 NPHP1 Senior-Loken syndrome |
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| 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 |
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| id |
MONDO:0009962 |
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| imported from | ||
| label |
Senior-Loken syndrome 1 |
|
| notation |
MONDO:0009962 |
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| prefLabel |
Senior-Loken syndrome 1 |
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| 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 |