ALZHEIMER DISEASE 2
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(OMIM:104310)
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ALZHEIMER DISEASE 5
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(OMIM:602096)
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ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
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(OMIM:502500)
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CEREBELLAR ATAXIA, BENIGN, WITH THERMOANALGESIA
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(OMIM:212890)
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DIABETES MELLITUS, NONINSULIN-DEPENDENT
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(OMIM:125853)
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Late-onset localized junctional epidermolysis bullosa - intellectual deficit
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(Orphanet:231556)
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MACULAR DYSTROPHY, VITELLIFORM, 1
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(OMIM:153840)
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Punctate palmoplantar keratoderma type 1
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(Orphanet:79501)
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Spinocerebellar ataxia type 31
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(Orphanet:217012)
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ZASP-related myofibrillar myopathy
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(Orphanet:98912)
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