DOID:0111195
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erythrokeratodermia variabilis et progressiva 1
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Homo sapiens (human)
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DOID:0111196
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X-linked distal spinal muscular atrophy 3
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Aliases:
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ATP7A-related distal motor neuropathy
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DSMAX
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SMAX3
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X-linked dHMN3
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X-linked dSMA3
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X-linked distal hereditary motor neuropathy type 3
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X-linked recessive distal spinal muscular atrophy
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Homo sapiens (human)
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DOID:0111206
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autosomal dominant distal hereditary motor neuronopathy 2
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Aliases:
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HMN II
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HMN IIA
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HMN2
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HMN2A
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autosomal dominant adult spinal muscular atrophy IIA
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distal hereditary motor neuronopathy type 2
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distal hereditary motor neuronopathy type 2A
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distal hereditary motor neuropathy type II
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distal hereditary motor neuropathy type IIA
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spinal Charcot-Marie-Tooth disease IIA
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Homo sapiens (human)
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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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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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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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Homo sapiens (human)
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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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Homo sapiens (human)
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DOID:0111236
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congenital muscular dystrophy-dystroglycanopathy type A3
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Aliases:
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MDDGA3
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Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
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Homo sapiens (human)
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DOID:0111237
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congenital muscular dystrophy-dystroglycanopathy type A1
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Aliases:
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MDDGA1
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Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
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Homo sapiens (human)
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DOID:0111238
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congenital muscular dystrophy-dystroglycanopathy type A13
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Aliases:
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MDDGA13
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Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
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Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
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Homo sapiens (human)
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DOID:0111239
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congenital muscular dystrophy-dystroglycanopathy type A10
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Aliases:
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MDDGA10
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Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
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Homo sapiens (human)
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DOID:0111240
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congenital muscular dystrophy-dystroglycanopathy type A2
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Aliases:
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MDDGA2
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Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
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Homo sapiens (human)
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DOID:0111241
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congenital muscular dystrophy-dystroglycanopathy type A5
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Aliases:
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MDDGA5
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Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
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Homo sapiens (human)
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DOID:0111242
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congenital muscular dystrophy-dystroglycanopathy type A6
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Aliases:
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MDDGA6
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Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
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congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
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Homo sapiens (human)
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DOID:0111246
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amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
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Aliases:
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ALS-PDC
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Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome
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Guam disease
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Lytico-Bodig disease
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PDALS
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amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam
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parkinsonism-dementia-ALS complex
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Homo sapiens (human)
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DOID:0111248
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cerebrocostomandibular syndrome
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Aliases:
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CCM syndrome
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CCMS
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cerebro-costo-mandibular syndrome
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rib gap defects with micrognathia
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Homo sapiens (human)
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DOID:0111252
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vestibular schwannomatosis
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Aliases:
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ACN
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BANF
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NF2
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NF2-related schwannomatosis
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SWN3
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SWNV
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acoustic neurofibromatosis
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bilateral acoustic neurinoma
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bilateral acoustic neurofibromatosis
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bilateral acoustic schwannomas
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central neurofibromatosis
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familial acoustic neuromas
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neurofibromatosis 2
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neurofibromatosis type II
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schwannomatosis 3
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Homo sapiens (human)
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