疾病名称 |
别名 |
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Deafness, Autosomal Dominant 22 |
DFNA22
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Deafness, Autosomal Dominant 22, With Hypertrophic Cardiomyopathy
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Autosomal Dominant Nonsyndromic Deafness 22
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Progressive Sensorineural Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
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Autosomal Dominant Deafness 22
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Progressive Neurosensory Deafness-Hypertrophic Cardiomyopathy Syndrome
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Progressive Neurosensory Hearing Loss-Hypertrophic Cardiomyopathy Syndrome
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Progressive Sensorineural Deafness-Hypertrophic Cardiomyopathy Syndrome
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DFNHCM
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Deafness, Autosomal Dominant, 22
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Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 22
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Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 22
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Deafness, Autosomal Dominant, Type 22
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Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22
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Deafness, Autosomal Recessive 37 |
DFNB37
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Autosomal Recessive Nonsyndromic Deafness 37
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Autosomal Recessive Deafness 37
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Deafness, Autosomal Recessive, 37
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Congenital Neurosensory Deafness Autosomal Recessive 37
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 37
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Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 37
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Deafness, Autosomal Recessive, Type 37
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Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
Autosomal Dominant Isolated Neurosensory Deafness Type Dfna
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Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna
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Autosomal Dominant Isolated Sensorineural Deafness Type Dfna
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Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna
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Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna
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Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna
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Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
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Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 |
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Rare Genetic Deafness |
Rare Genetic Hearing Loss
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Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb
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Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
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Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb
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Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
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Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb
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Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
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Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
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Ear Malformation |
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Non-Syndromic Genetic Deafness |
Nonsyndromic Genetic Hearing Loss
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Isolated Genetic Deafness
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Isolated Genetic Hearing Loss
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Non-Syndromic Genetic Hearing Loss
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Nonsyndromic Hearing Loss |
Nonsyndromic Deafness
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Nonsyndromic Hearing Impairment
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Nonsyndromic Hearing Loss And Deafness
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Deafness, Nonsyndromic
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Isolated Deafness
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Sensorineural Hearing Loss |
Sensory Hearing Loss
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Sensorineural Deafness
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Sensorineural Hearing Loss Disorder
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Hearing Loss, Sensorineural
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Central Hearing Loss
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High Frequency Deafness
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High Frequency Hearing Loss
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High-Frequency Hearing Loss
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Perceptive Deafness
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Perceptive Hearing Loss
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Perceptive Hearing Loss Or Deafness
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Hearing Loss Sensorineural
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Deafness Sensorineural
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Hearing Loss High-Frequency
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Hearing Loss, Central
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Hearing Loss, High-Frequency
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Deafness, Autosomal Recessive 15 |
DFNB15
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Dfnb72
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Dfnb95
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Deafness, Autosomal Recessive 72
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Autosomal Recessive Nonsyndromic Deafness 15
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Deafness, Autosomal Recessive 95
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Autosomal Recessive Deafness 15
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Autosomal Recessive Deafness 72
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Autosomal Recessive Deafness 95
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Deafness, Autosomal Recessive, 15
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Deafness Autosomal Recessive 72
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Deafness Autosomal Recessive 95
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 15
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Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 15
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Deafness, Autosomal Recessive, Type 15
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Hypertrophic Cardiomyopathy |
Hypertrophic Obstructive Cardiomyopathy
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Cardiomyopathy, Hypertrophic
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Cardiomyopathy Hypertrophic Obstructive
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Cardiomyopathy, Hypertrophic, Familial
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Idiopathic Myocardial Hypertrophy
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Idiopathic Hypertrophic Cardiomyopathy
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Obstructive Idiopathic Hypertrophic Cardiomyopathy
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Obstructive Cardiomyopathy
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Idiopathic Hypertrophic Subaortic Stenosis
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Muscular Subaortic Stenosis
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Hypertrophic Obstructive Subaortic Stenosis
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Deafness, Autosomal Dominant 48 |
DFNA48
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Autosomal Dominant Nonsyndromic Deafness 48
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Autosomal Dominant Deafness 48
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Deafness, Autosomal Dominant, 48
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Deafness Autosomal Dominant Due To Mutation In Myo1a
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Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 48
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Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 48
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Deafness, Autosomal Dominant, Type 48
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Deafness, Autosomal Dominant 15 |
DFNA15
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Autosomal Dominant Nonsyndromic Deafness 15
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Autosomal Dominant Deafness 15
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Deafness, Autosomal Dominant, 15
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Deafness, Autosomal Dominant, Type 15
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Cardiomyopathy, Familial Hypertrophic, 2 |
Hypertrophic Cardiomyopathy 2
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CMH2
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Cardiomyopathy, Hypertrophic, 2
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Cardiomyopathy Familial Hypertrophic 2
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Cardiomyopathy, Familial Hypertrophic 2
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Cardiomyopathy, Hypertrophic, Familial, Type 2
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Deafness, Autosomal Dominant 17 |
DFNA17
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Autosomal Dominant Nonsyndromic Deafness 17
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Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17
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Autosomal Dominant Deafness 17
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Late-Onset Progressive Hereditary Hearing Impairment Due To Cochleosaccular Degeneration
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Nonsyndromic Hereditary Deafness Dfna17
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Deafness, Autosomal Dominant, 17
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Cochleosaccular Degeneration
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Deafness, Autosomal Dominant, Type 17
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Cochleosaccular Degeneration Of The Inner Ear And Progressive Cataracts
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Developmental And Epileptic Encephalopathy 16 |
DEE16
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Epileptic Encephalopathy, Early Infantile, 16
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Eiee16
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Developmental And Epileptic Encephalopathy, 16
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Early Infantile Epileptic Encephalopathy 16
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Progressive Myoclonic Epilepsy With Dystonia
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Pmed
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Progressive Myoclonus Epilepsy With Dystonia
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Encephalopathy, Epileptic, Early Infantile, Type 16
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Autosomal Recessive Nonsyndromic Deafness 3 |
Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3
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Dfnb3
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Nrsd3
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Deafness, Autosomal Recessive 3
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Deafness, Autosomal Dominant 11 |
DFNA11
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Autosomal Dominant Nonsyndromic Deafness 11
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Autosomal Dominant Deafness 11
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Deafness, Autosomal Dominant, 11
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Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11
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Deafness, Autosomal Dominant, Type 11
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Deafness, Autosomal Recessive 30 |
DFNB30
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Autosomal Recessive Nonsyndromic Deafness 30
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Autosomal Recessive Deafness 30
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Deafness, Autosomal Recessive, 30
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Deafness, Autosomal Recessive, Type 30
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Deafness, Autosomal Dominant 16 |
DFNA16
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Autosomal Dominant Nonsyndromic Deafness 16
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Autosomal Dominant Deafness 16
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Deafness, Autosomal Dominant 21 |
DFNA21
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Autosomal Dominant Nonsyndromic Deafness 21
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Autosomal Dominant Deafness 21
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Deafness, Autosomal Dominant, 21
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Deafness, Autosomal Dominant 7 |
DFNA7
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Autosomal Dominant Nonsyndromic Deafness 7
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Autosomal Dominant Deafness 7
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Deafness, Autosomal Dominant, 7
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Deafness, Autosomal Dominant, Type 7
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Deafness, Autosomal Dominant 10 |
DFNA10
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Autosomal Dominant Nonsyndromic Deafness 10
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Autosomal Dominant Deafness 10
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Deafness, Autosomal Dominant, 10
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Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10
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Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10
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Deafness, Autosomal Dominant, Type 10
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Usher Syndrome, Type I |
USH1
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Usher Syndrome Type 1
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Us1
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Usher Syndrome, Type 1b
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Usher Syndrome Type 1e
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Retinitis Pigmentosa And Congenital Deafness
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Usher Syndrome, Type Ie
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USH1E
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Usher Syndrome, Type 1e
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Usher Syndrome, Type 1a
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Usher Syndrome, Type Ib
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Usher Syndrome Type 1b
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Usher Syndrome Type Ie
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Usher Syndrome Type I
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Usher 1
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Usher Syndrome, Type 1
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Ush1a
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Usher Syndrome, Type I, French Variety
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Usher Syndrome, Type Ia
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Usher Syndrome 1b
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USH1B
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Usher'S Syndrome Type 1b
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Usher Syndrome Type Ib
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Ushib
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Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
Enlarged Vestibular Aqueduct
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DFNB4
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Neurosensory Nonsyndromic Recessive Deafness 4
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Enlarged Vestibular Aqueduct Syndrome
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Nsrd4
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Autosomal Recessive Nonsyndromic Deafness 4
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Dilated Vestibular Aqueduct
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Dva
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Enlarged Vestibular Aqueduct, Digenic
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Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
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Large Vestibular Aqueduct Syndrome
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Deafness, Autosomal Recessive, 4
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Deafness Neurosensory Autosomal Recessive 4
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Eva
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4
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Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
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Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
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Deafness, Autosomal Recessive 2 |
DFNB2
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Neurosensory Nonsyndromic Recessive Deafness 2
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Nsrd2
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Autosomal Recessive Nonsyndromic Deafness 2
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Deafness, Autosomal Recessive, Type 2
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Autosomal Recessive Deafness 2
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Deafness, Autosomal Recessive, 2
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Deafness Neurosensory Autosomal Recessive 2
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2
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Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2
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Deafness, Autosomal Recessive 2, Neurosensory
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Y-Linked Deafness |
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Autosomal Dominant Nonsyndromic Deafness |
Autosomal Dominant Deafness
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Deafness, Autosomal Dominant 28 |
DFNA28
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Autosomal Dominant Nonsyndromic Deafness 28
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Autosomal Dominant Deafness 28
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Deafness, Autosomal Dominant, 28
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Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28
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Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28
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Deafness, Autosomal Dominant, Type 28
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Deafness, Autosomal Recessive 102 |
DFNB102
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Autosomal Recessive Nonsyndromic Deafness 102
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Autosomal Recessive Deafness 102
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Deafness, Autosomal Recessive, 102
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Deafness, Autosomal Recessive, Type 102
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Deafness, Autosomal Recessive 110 |
DFNB110
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Autosomal Recessive Nonsyndromic Deafness 110
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Autosomal Recessive Deafness 110
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Deafness, Autosomal Recessive, 110
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Auditory System Disease |
Ear Diseases
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Ear And Mastoid Disease
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Deafness, Autosomal Dominant 9 |
DFNA9
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Autosomal Dominant Nonsyndromic Deafness 9
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Autosomal Dominant Deafness 9
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Deafness, Autosomal Dominant, 9
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Deafness, Autosomal Dominant, Type 9
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Autosomal Recessive Nonsyndromic Deafness |
Deafness, Autosomal Recessive, Nonsyndromic
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Deafness, Autosomal Recessive 12 |
DFNB12
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Deafness, Autosomal Recessive 12, Modifier Of
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Autosomal Recessive Nonsyndromic Deafness 12
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Autosomal Recessive Deafness 12
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Deafness, Autosomal Recessive, 12
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Congenital Neurosensory Deafness Autosomal Recessive 12
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12
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Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12
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Deafness, Autosomal Recessive, Type 12
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Usher Syndrome |
Deafness-Retinitis Pigmentosa Syndrome
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Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
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Graefe-Usher Syndrome
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Hallgren Syndrome
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Usher'S Syndrome
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Retinitis Pigmentosa-Deafness Syndrome
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Retinitis Pigmentosa-Hearing Loss Syndrome
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Ush
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Usher Syndromes
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Usher Syndrome Type 2 |
Ush2
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Usher Syndrome Type Ii
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Erythrokeratodermia Variabilis Et Progressiva 1 |
Erythrokeratodermia Variabilis
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Erythrokeratodermia Variabilis Et Progressiva
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Greither Disease
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Ekv
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Ekvp
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PSEK
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Erythrokeratodermia Variabilis With Erythema Gyratum Repens
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Keratosis Palmoplantaris Transgrediens Et Progrediens
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Transgrediens Et Progrediens Palmoplantar Keratoderma
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EKVP1
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Erythrokeratodermia, Progressive Symmetric
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Erythrokeratodermia Figurata, Congenital Familial, In Plaques
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Keratoderma Palmoplantaris Transgrediens
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Keratosis Extremitatum Hereditaria Progrediens
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Erythrokeratodermia Variabilis, Mendes Da Costa Type
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Progressive Symmetric Erythrokeratodermia
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Erythrokeratodermia Figurata Variabilis
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Greither'S Disease
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Ekv-P
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Erythrokeratodermia Variabilis Of Mendes Da Costa
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Progressive Symmetrical Erythrokeratoderma Of Gottron
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Progressive Diffuse Ppk
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Progressive Diffuse Palmoplantar Keratoderma
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Transgrediens Et Progrediens Ppk
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Darier-Gottron Disease
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Erythrokeratodermia Progressiva Symmetrica
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Progressive Symmetric Erythrokeratodermia, Gottron Type
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Congenital Familial Erythrokeratodermia Figurata In Plaques
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Erythrokeratodermia Progressive Symmetric
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Erythrokeratodermia Variabilis Mendes Da Costa Type
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Retinitis Pigmentosa |
RP
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Rod-Cone Dystrophy
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
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Pericentral Pigmentary Retinopathy
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Pigmentary Retinopathy
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Tapetoretinal Degeneration
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Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
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