loading...| Preferred Name |
Senior-Loken syndrome |
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| Synonyms |
Senior Loken syndrome renal dysplasia retinal aplasia nephronophthisis with retinal dystrophy SLSN Loken Senior syndrome renal dysplasia-retinal aplasia syndrome renal-retinal syndrome |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0017842 |
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| altLabel |
Senior Loken syndrome renal dysplasia retinal aplasia nephronophthisis with retinal dystrophy SLSN Loken Senior syndrome renal dysplasia-retinal aplasia syndrome renal-retinal syndrome |
|
| 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. |
|
| has_exact_synonym |
nephronophthisis with retinal dystrophy SLSN Loken Senior syndrome renal dysplasia-retinal aplasia syndrome renal-retinal syndrome |
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| has_related_synonym |
Senior Loken syndrome renal dysplasia retinal aplasia |
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| label |
Senior-Loken syndrome |
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| prefixIRI |
MONDO:0017842 |
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| prefLabel |
Senior-Loken syndrome |
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| textual 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. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0022409 http://purl.obolibrary.org/obo/MONDO_0020238 http://purl.obolibrary.org/obo/MONDO_0022410 |