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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cone rod dystrophy
Comorbidity C0018523|pantothenate kinase-associated neurodegeneration
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PubMedID- 20603201 Pank2 mutations cause pantothenate kinase-associated neurodegeneration (pkan), which leads to pigmentary retinopathy, progressive dystonia and other abnormalities.

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