疾病名称 |
别名 |
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Deafness, X-Linked 2 |
Progressive Deafness With Stapes Fixation
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DFNX2
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Dfn3
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Nance Deafness
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Perilymphatic Gusher-Deafness Syndrome
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Stapedo-Vestibular Ankylosis
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Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear
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X-Linked Deafness 2
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X-Linked Mixed Conductive And Neurosensory Deafness
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X-Linked Mixed Conductive And Sensorineural Deafness
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Deafness 3 Conductive With Stapes Fixation
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Deafness Conductive With Stapes Fixation
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Deafness Mixed With Perilymphatic Gusher
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Thies-Reis Syndrome
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Deafness, Conductive, With Stapes Fixation
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Deafness 3, Conductive, With Stapes Fixation
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Deafness, Mixed, With Perilymphatic Gusher
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Conductive Deafness 3 With Stapes Fixation
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Conductive Deafness With Stapes Fixation
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Mixed Deafness With Perilymphatic Gusher
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X-Linked Deafness Type 2
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X-Linked Mixed Conductive And Neurosensory Hearing Loss
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X-Linked Mixed Conductive And Sensorineural Hearing Loss
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X-Linked Sensorineural Deafness
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X-Linked Stapes Gusher Syndrome
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Deafness Mixed With Perilymphatic Gusher, X-Linked
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Dfn 3 Nonsyndromic Hearing Loss And Deafness
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Gusher Syndrome
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Thies Reis Syndrome
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Progressive Hearing Loss With Stapes Fixation
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Deafness, X-Linked, 2
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Deafness Mixed With Perilymph Gusher X-Linked
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Deafness, X-Linked, Type 2
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Progressive Hearing Loss Stapes Fixation
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Chromosome Xq21 Deletion Syndrome |
Choroideremia, Deafness, And Mental Retardation
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Ayazi Syndrome
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Xq21 Deletion Syndrome
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Xq21 Microdeletion Syndrome
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Del
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Monosomy Xq21
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Deafness, Nonsyndromic Sensorineural, Mitochondrial |
Mitochondrial Non-Syndromic Sensorineural Hearing Loss
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Mitochondrial Nonsyndromic Sensorineural Deafness
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Mitochondrial Non-Syndromic Sensorineural Deafness
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Isolated Mitochondrial Neurosensory Deafness
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Isolated Mitochondrial Neurosensory Hearing Loss
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Isolated Mitochondrial Sensorineural Deafness
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Isolated Mitochondrial Sensorineural Hearing Loss
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Mitochondrial Non-Syndromic Neurosensory Deafness
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Mitochondrial Non-Syndromic Neurosensory Hearing Loss
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Deafness, Sensorineural, Mitochondrial
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DFNM
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Rare Genetic Deafness |
Rare Genetic Hearing Loss
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Hereditary Hearing Loss And Deafness |
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Superior Semicircular Canal Dehiscence |
Superior Canal Dehiscence Syndrome
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Superior Semicircular Canal Dehiscence Syndrome
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Canal Dehiscence Syndrome
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Superior Canal Dehiscence
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Superior Canal Syndrome
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Third Mobile Window Syndrome
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Scds
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Anemia, Sickle Cell
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Deafness, X-Linked 4 |
DFNX4
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Dfn6
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Deafness, Nonsyndromic Sensorineural Progressive 6
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X-Linked Deafness 4
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Deafness, X-Linked 6, Progressive
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Nonsyndromic Sensorineural Progressive Deafness 6
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X-Linked Progressive Deafness 6
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Deafness, X-Linked, 4
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Deafness Nonsyndromic Sensorineural Progressive 6
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Deafness X-Linked 6 Progressive
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Deafness, X-Linked, Type 4
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X-Linked Nonsyndromic Deafness |
X-Linked Deafness
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Deafness, X-Linked
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Deafness, X-Linked 3 |
DFNX3
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Dfn4
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X-Linked Deafness 3
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Deafness, X-Linked 4, Congenital Sensorineural
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Congenital Sensorineural X-Linked Deafness 4
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Deafness, X-Linked 5, With Peripheral Neuropathy |
Deafness, X-Linked 5
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DFNX5
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Aunx1
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Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy
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X-Linked Deafness 5
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X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1
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X-Linked Hsan With Deafness
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X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy
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X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness
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X-Linked Hsan With Hearing Loss
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X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss
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Deafness, X-Linked, 5, With Peripheral Neuropathy
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Deafness, X-Linked, Type 5
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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, X-Linked 1 |
DFNX1
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Dfn2
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Deafness, X-Linked 2, Sensorineural Congenital
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X-Linked Deafness 1
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X-Linked Sensorineural Congenital Deafness 2
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Deafness, X-Linked, 1
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Congenital Sensorineural Deafness X-Linked 2
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Deafness, X-Linked, Type 1
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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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Deafness And Myopia |
High Myopia-Sensorineural Deafness Syndrome
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DFNMYP
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Deafness And Myopia Syndrome
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Deafness, Cochlear, Plus
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High Myopia And Sensorineural Deafness
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Myopia And Deafness
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High Myopia-Sensorineural Hearing Loss Syndrome
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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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Partington Syndrome |
X-Linked Reticulate Pigmentary Disorder
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PRTS
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Partington X-Linked Mental Retardation Syndrome
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Mrxs1
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Mrx36
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Intellectual Developmental Disorder, X-Linked, Syndromic 1
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Partington Disease
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Pdr
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Partington-Mulley Syndrome
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Russell-Silver Syndrome, X-Linked
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Mental Retardation, X-Linked, Syndromic 1
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Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
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Mental Retardation, X-Linked 36
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X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
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X-Linked Russell-Silver Syndrome
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Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
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Intellectual Disability, X-Linked, Syndromic 1
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Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
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Partington X-Linked Intellectual Disability Syndrome
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X-Linked Intellectual Deficit-Dystonia-Dysarthria
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X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures
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Familial Cutaneous Amyloidosis
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X-Linked Cutaneous Amyloidosis
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Xlpdr
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X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome
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Pigmentary Disorder, Reticulate, With Systemic Manifestations
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Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
CMTX5
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Rosenberg-Chutorian Syndrome
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Charcot-Marie-Tooth Disease X-Linked Recessive 5
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Optic Atrophy, Polyneuropathy, And Deafness
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Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5
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Cmt5x
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X-Linked Charcot-Marie-Tooth Disease Type 5
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Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5
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Optic Atrophy Polyneuropathy Deafness
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Optic Atrophy With Polyneuropathy And Deafness
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Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5
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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 Recessive 49 |
DFNB49
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Autosomal Recessive Nonsyndromic Deafness 49
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Autosomal Recessive Deafness 49
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Deafness, Autosomal Recessive, 49
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49
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Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49
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Deafness, Autosomal Recessive, Type 49
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Deafness, X-Linked 7 |
X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome
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DFNX7
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X-Linked Deafness 7
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Deafness, X-Linked, 7
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Auditory System Disease |
Ear Diseases
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Ear And Mastoid Disease
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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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Arts Syndrome |
ARTS
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Mrxsarts
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Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision
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Mrxs18
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Lethal Ataxia With Deafness And Optic Atrophy
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Fatal X-Linked Ataxia With Deafness And Loss Of Vision
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Mental Retardation, X-Linked, Syndromic, Arts Type
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Mental Retardation, X-Linked, Syndromic 18
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Syndromic X-Linked Mental Retardation 18
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Syndromic X-Linked Mental Retardation Arts Type
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Lethal Ataxia-Deafness-Optic Atrophy
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X-Linked Fatal Ataxia With Deafness And Loss Of Vision
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Ataxia-Deafness-Optic Atrophy, Lethal
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Lethal Ataxia With Hearing Loss And Optic Atrophy
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Art
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Vestibular Disease |
Vestibular Diseases
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Vertigo, Vestibular Disorder
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Vestibular Disorder
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Diseases Of Inner Ear
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Mohr-Tranebjaerg Syndrome |
Deafness-Dystonia-Optic Neuronopathy Syndrome
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Jensen Syndrome
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Deafness Dystonia Syndrome
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MTS
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Dds
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Deafness-Dystonia-Optic Atrophy Syndrome
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Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency
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Opticoacoustic Nerve Atrophy With Dementia
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Dystonia-Deafness Syndrome
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Ddp
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Ddon Syndrome
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Mohr-Tranebjærg Syndrome
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Deafness Dystonia Optic Atrophy Syndrome
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Deafness Dystonia Optic Neuronopathy Syndrome
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Dystonia Deafness Syndrome
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Ddon
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Deafness - Dystonia - Optic Neuronopathy Syndrome
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Deafness-Dystonia-Optic Neuronopathy Syndrome
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Hearing Loss-Dystonia-Optic Neuronopathy Syndrome
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Dfn-1
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X-Linked Progressive Deafness Type 1
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Norrie Disease |
Atrophia Bulborum Hereditaria
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Episkopi Blindness
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Pseudoglioma
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ND
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Norrie-Warburg Disease
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Anderson-Warburg Syndrome
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Fetal Iritis Syndrome
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Norrie Syndrome
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Norrie-Warburg Syndrome
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Ndp
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Congenital Progressive Oculo-Acoustico-Cerebral Degeneration
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Norrie'S Disease
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Oligophrenia Microphthalmus
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Pseudoglioma Congenita
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Whitnall-Norman Syndrome
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Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
Star Syndrome
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Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
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Syndactyly With Renal And Anogenital Malformations
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STAR
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Syndactyly, Telecanthus, Anogenital And Renal Malformations
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Toe Syndactyly, Telecanthus, Anogenital And Renal Malformations
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Pendred Syndrome |
Goiter-Deafness Syndrome
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Deafness With Goiter
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PDS
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Thyroid Dyshormonogenesis 2b
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Tdh2b
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Autosomal Recessive Sensorineural Hearing Impairment And Goiter
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Pendred'S Syndrome
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Thyroid Hormonogenesis, Genetic Defect In, 2b
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Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b
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Congenital Hypothyroidism Due To Dyshormonogenesis 2b
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Genetic Defect In Thyroid Hormonogenesis 2b
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Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
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Goiter-Hearing Loss Syndrome
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Goitre-Deafness Syndrome
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Goitre Deafness
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Usher Syndrome, Type Id |
Usher Syndrome Type 1d
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USH1D
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Usher Syndrome, Type 1d
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Usher Syndrome Type Id
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Usher Syndrome, Type Id/F, Digenic
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Usher Syndrome, Type 1d/F Digenic
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Usher Syndrome 1d
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Usher'S Syndrome Type 1d
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Usher Syndrome 1d/F
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USH1DF
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Ush1d/F
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Usher'S Syndrome Type 1h
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Usher Syndrome 1h
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Usher Syndrome Type Ih
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Usher Syndrome, Type 1d/F
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Waardenburg Syndrome, Type 1 |
Waardenburg Syndrome Type 1
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WS1
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Waardenburg Syndrome Type I
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Waardenburg Syndrome With Dystopia Canthorum
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Waardenburg'S Syndrome Type 1
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Waardenburg Syndrome 1
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Waardenburg Syndrome, Type I
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Waardenburg Syndrome
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Inner Ear Disease |
Labyrinthine Dysfunction
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Diseases Of Inner Ear
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Labyrinthine Disease
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Abnormality Of The Inner Ear
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Labyrinth Diseases
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Labyrinthine Disorder
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Nonfunctioning Labyrinth
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Labyrinthine Loss Of Function
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Labyrinthine Syndrome
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Labyrinthine Disorder Nos
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Branchiootorenal Syndrome |
Branchio-Oto-Renal Syndrome
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Bor Syndrome
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Branchiootorenal Dysplasia
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Melnick-Fraser Syndrome
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Branchiootorenal Spectrum Disorders
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Branchio-Otorenal Dysplasia
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Branchio Oto Renal Syndrome
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Branchiootorenal/Branchiootic Syndrome
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Bo Syndrome
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Bor
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Bos
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Branchio-Otorenal Syndrome
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Branchiootic Syndrome
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Branchiootorenal Syndrome
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Branchiootic Syndrome 1
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Autosomal Dominant Nonsyndromic Deafness |
Autosomal Dominant Deafness
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Otosclerosis |
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Autosomal Recessive Nonsyndromic Deafness |
Deafness, Autosomal Recessive, Nonsyndromic
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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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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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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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