choroideremia

  • 101Ectopia lentis — Classification and external resources ICD 10 H27.1, Q12.1 ICD 9 …

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  • 102Pyruvate dehydrogenase deficiency — Classification and external resources ICD 10 E74.4 ICD 9 271.8 …

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  • 103Kjer's optic neuropathy — Classification and external resources ICD 9 377.16 OMIM 165500 DiseasesDB …

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  • 104Cohen syndrome — Classification and external resources OMIM 216550 DiseasesDB 29622 Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named afte …

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  • 105Cogan syndrome — Classification and external resources DiseasesDB 32705 MeSH D055952 Cogan syndrome is a rare dis …

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  • 106Rab27 — protein Name=RAB27A, member RAS oncogene family caption= width= HGNCid=9766 Symbol=RAB27A AltSymbols= EntrezGene=5873 OMIM=603868 RefSeq=NM 004580 UniProt=P51159 PDB= ECnumber= Chromosome=15 Arm=q Band=21 LocusSupplementaryData=protein… …

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  • 107Coats' disease — Classification and external resources Clinical photography of patient with Coats disease, showing conjunctival hyperemia, mild corneal edema, posterior synechiae and cataract. ICD …

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  • 108Centronuclear myopathy — Classification and external resources Muscle biopsy from the quadriceps taken at 3 months of age from a girl with X linked centronuclear ( myotubular ) myopathy due to a mutation in the myotubularin (MTM1) gene and extremely skewed X inactivation …

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  • 109Oculocerebrorenal syndrome — Classification and external resources ICD 10 E72.0 ICD 9 270.8 …

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  • 110Fungal keratitis — Keratomycosis Classification and external resources ICD 10 B49, H19.2 eMedicine …

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