loading...| Preferred Name |
Senior-Loken syndrome |
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| Synonyms |
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| Definitions |
An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050576 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| definition |
An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. |
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| hasDbXref |
OMIM:610189 ORDO:3156 OMIM:606995 OMIM:609254 OMIM:613615 OMIM:606996 ICD10CM:Q61.5 OMIM:266900 |
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| hasExactSynonym |
Loken Senior syndrome renal-retinal syndrome |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:0050576 |
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| imported from | ||
| inSubset | ||
| label |
Senior-Loken syndrome |
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| prefixIRI |
DOID:0050576 |
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| prefLabel |
Senior-Loken syndrome |
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| subClassOf |
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