DOID:0111216
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autosomal recessive centronuclear myopathy
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Aliases:
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Homo sapiens (human)
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DOID:0111217
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autosomal dominant centronuclear myopathy
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Aliases:
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Homo sapiens (human)
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DOID:0111218
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Friedreich ataxia 1
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Aliases:
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Homo sapiens (human)
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DOID:0111223
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centronuclear myopathy 1
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Aliases:
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Homo sapiens (human)
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DOID:0111225
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centronuclear myopathy X-linked
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Aliases:
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CNMX
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MTM1
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X-linked myotubular myopathy
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XLCNM
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XLMTM
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myotubular myopathy 1
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Homo sapiens (human)
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DOID:0111228
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Sveinsson chorioretinal atrophy
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Aliases:
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HPCD
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SCRA
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atrophia areata
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helicoid peripapillary chorioretinal degeneration
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peripapillary chorioretinal degeneration, Icelandic type
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Homo sapiens (human)
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DOID:0111230
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congenital muscular dystrophy-dystroglycanopathy type A11
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Aliases:
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MDDGA11
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Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
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Danio rerio (zebrafish)
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DOID:0111230
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congenital muscular dystrophy-dystroglycanopathy type A11
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Aliases:
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MDDGA11
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Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
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Rattus norvegicus (Norway rat)
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DOID:0111230
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congenital muscular dystrophy-dystroglycanopathy type A11
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Aliases:
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MDDGA11
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Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
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Xenopus laevis (African clawed frog)
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DOID:0111230
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congenital muscular dystrophy-dystroglycanopathy type A11
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Aliases:
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MDDGA11
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Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
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Mus musculus (house mouse)
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DOID:0111230
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congenital muscular dystrophy-dystroglycanopathy type A11
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Aliases:
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MDDGA11
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Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
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Homo sapiens (human)
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DOID:0111230
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congenital muscular dystrophy-dystroglycanopathy type A11
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Aliases:
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MDDGA11
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Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
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Xenopus tropicalis (tropical clawed frog)
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DOID:0111231
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congenital muscular dystrophy-dystroglycanopathy type A8
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Aliases:
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MDDGA8
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Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
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Danio rerio (zebrafish)
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DOID:0111231
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congenital muscular dystrophy-dystroglycanopathy type A8
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Aliases:
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MDDGA8
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Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
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Homo sapiens (human)
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DOID:0111231
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congenital muscular dystrophy-dystroglycanopathy type A8
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Aliases:
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MDDGA8
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Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
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Xenopus tropicalis (tropical clawed frog)
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DOID:0111231
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congenital muscular dystrophy-dystroglycanopathy type A8
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Aliases:
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MDDGA8
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Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
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Rattus norvegicus (Norway rat)
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DOID:0111231
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congenital muscular dystrophy-dystroglycanopathy type A8
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Aliases:
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MDDGA8
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Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
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Xenopus laevis (African clawed frog)
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DOID:0111231
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congenital muscular dystrophy-dystroglycanopathy type A8
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Aliases:
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MDDGA8
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Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
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Mus musculus (house mouse)
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DOID:0111232
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congenital muscular dystrophy-dystroglycanopathy type A9
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Aliases:
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MDDGA9
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Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
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Homo sapiens (human)
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DOID:0111232
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congenital muscular dystrophy-dystroglycanopathy type A9
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Aliases:
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MDDGA9
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Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
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Drosophila melanogaster (fruit fly)
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DOID:0111233
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congenital muscular dystrophy-dystroglycanopathy A14
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Aliases:
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MDDGA14
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Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
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Drosophila melanogaster (fruit fly)
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DOID:0111233
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congenital muscular dystrophy-dystroglycanopathy A14
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Aliases:
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MDDGA14
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Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
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Homo sapiens (human)
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DOID:0111234
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congenital muscular dystrophy-dystroglycanopathy A7
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Aliases:
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MDDGA7
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Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
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Homo sapiens (human)
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DOID:0111235
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congenital muscular dystrophy-dystroglycanopathy type A12
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Aliases:
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MDDGA12
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Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
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Danio rerio (zebrafish)
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DOID:0111235
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congenital muscular dystrophy-dystroglycanopathy type A12
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Aliases:
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MDDGA12
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Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
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Xenopus laevis (African clawed frog)
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