| 疾病名称 |
别名 |
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| Charcot-Marie-Tooth Disease, Type 4b3 |
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Charcot-Marie-Tooth Disease Type 4b3
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CMT4B3
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Charcot-Marie-Tooth Disease With Focally Folded Myelin
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Charcot-Marie-Tooth Disease 4b3
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Charcot-Marie-Tooth Neuropathy Type 4b3
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| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
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Charcot-Marie-Tooth Disease Type 4
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Charcot-Marie-Tooth Disease Type 4e
|
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Hereditary Motor And Sensory Neuropathy
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Cmt4e
|
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CHN1
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Hypomyelinating Neuropathy, Congenital, 1
|
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Charcot-Marie-Tooth Neuropathy Type 4e
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Neuropathy, Congenital Hypomyelinating, 1
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Ar-Cmt1
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
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Cmt4
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Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
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Hypomyelination, Severe Congenital
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Charcot-Marie-Tooth Disease, Type 4e
|
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Charcot-Marie-Tooth Neuropathy, Type 4e
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Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
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Autosomal Recessive Congenital Hypomyelinating Neuropathy
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Congenital Amyelinating Neuropathy
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Congenital Hypomyelinating Neuropathy Autosomal Recessive
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Neuropathy, Congenital Hypomyelinating Or Amyelinating
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Severe Congenital Hypomyelination
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Hereditary Sensory Motor Neuropathy
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
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Neuropathy, Hypomyelinating, Congenital, Type 1
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Neuropathy, Motor And Sensory, Hereditary
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Congenital Hypomyelinating Neuropathy
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Hereditary Motor And Sensory Neuropathies
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Hereditary Sensorimotor Neuropathy
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Hmsn - [Hereditary Motor And Sensory Neuropathy]
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Hsmn - [Hereditary Sensory And Motor Neuropathy]
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Hereditary Motor And Sensory Neuropathy, Types I-Iv
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| Tooth Disease |
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Tooth Diseases
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Teeth Disease
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Tooth Disorders
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| Charcot-Marie-Tooth Disease |
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Cmt
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Hmsn
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Hereditary Motor And Sensory Neuropathy
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Pma
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Cmt - Charcot-Marie-Tooth Disease
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Charcot Marie Tooth Disease
|
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Charcot-Marie-Tooth Hereditary Neuropathy
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Charcot-Marie-Tooth Syndrome
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Peroneal Muscular Atrophy
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Hereditary Motor And Sensory Neuropathies
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| Centronuclear Myopathy |
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Myopathy, Centronuclear
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Myotubular Myopathy
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Cnm
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Myopathy, Myotubular
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Congenital Structural Myopathy
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| Charcot-Marie-Tooth Disease, Type 4b1 |
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Charcot-Marie-Tooth Disease Type 4b1
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CMT4B1
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Cmt4b
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Charcot-Marie-Tooth Neuropathy Type 4b1
|
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Charcot-Marie-Tooth Disease Type 4b
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Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1
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Charcot-Marie-Tooth Neuropathy, Type 4b1
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Charcot-Marie-Tooth Disease, Type 4b
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Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1
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Charcot-Marie-Tooth Disease 4b1
|
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Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
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| Charcot-Marie-Tooth Disease, Type 4b2 |
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Charcot-Marie-Tooth Disease Type 4b2
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CMT4B2
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Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2
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Charcot-Marie-Tooth Neuropathy, Type 4b2
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Charcot-Marie-Tooth Neuropathy Type 4b2
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Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
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Cmt 4b2
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Charcot Marie Tooth Disease Type 4b2
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Charcot-Marie-Tooth Disease 4b2
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Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
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| Combined Oxidative Phosphorylation Deficiency 10 |
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COXPD10
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Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency
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Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis
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Infantile Hypertrophic Mitochondrial Cardiomyopathy And Lactic Acidosis
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Combined Oxidative Phosphorylation Defect Type 10
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Cardiomyopathy Infantile Hypertrophic Mitochondrial And Lactic Acidosis
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Combined Oxidative Phosphorylation Deficiency, Type 10
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| Autism Spectrum Disorder |
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Asd
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Autism Spectrum Disorders
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Autistic Continuum
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Pervasive Developmental Disorder
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Pervasive Development Disorder
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Autistic Behavior
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Autistic Disorder
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Autistic
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Autistic Disorder Of Childhood Onset
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Infantile Autism
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Childhood Autism
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Kanner Syndrome
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Pervasive Developmental Delay Nos
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Pervasive Developmental Disorder, Not Otherwise Specified
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| Myopathy, Centronuclear, X-Linked |
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X-Linked Myotubular Myopathy
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Xlmtm
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X-Linked Centronuclear Myopathy
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Xlcnm
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CNMX
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Mtm1
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Myotubular Myopathy, X-Linked
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Mtmx
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Myotubular Myopathy 1
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Centronuclear Myopathy X-Linked
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Myotubular Myopathy
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Mtm
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Cnm
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Xmtm
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Myotubular Myopathy Type 1
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 1f |
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Charcot-Marie-Tooth Disease Type 1f
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CMT1F
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Charcot-Marie-Tooth Disease, Type 1f
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Charcot-Marie-Tooth Neuropathy Type 1f
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Charcot-Marie-Tooth Neuropathy, Type 1f
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Charcot-Marie-Tooth Disease Type 2b5
|
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Ar-Cmt2b5
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Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5
|
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Seoan Due To Nefl Deficiency
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Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency
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Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency
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Charcot-Marie-Tooth Disease 1f
|
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Charcot-Marie-Tooth Disease Demyelinating Type 1f
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Charcot-Marie-Tooth Disease, Type If
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| Liver Failure, Infantile, Transient |
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Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins
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Transient Infantile Liver Failure
|
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LFIT
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Acute Infantile Liver Failure
|
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Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins
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Liver Failure, Transient Infantile
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Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect
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Liver Failure, Acute Infantile
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Failure, Liver, Transient, Infantile
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| Charcot-Marie-Tooth Disease, Type 4h |
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Charcot-Marie-Tooth Disease Type 4h
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CMT4H
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Charcot-Marie-Tooth Neuropathy Type 4h
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Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h
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Charcot-Marie-Tooth Neuropathy, Type 4h
|
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Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h
|
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Charcot-Marie-Tooth Disease 4h
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h
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| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
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Charcot-Marie-Tooth Disease Type 2
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CMT2E
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CMT2S
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CMT2Y
|
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Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Disease Type 2y
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Charcot-Marie-Tooth Disease Axonal Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Type 2s
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Charcot-Marie-Tooth Disease, Type 2e
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Hereditary Motor And Sensory Neuropathy Type 2
|
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Charcot-Marie-Tooth Neuropathy, Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
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Charcot-Marie-Tooth Disease, Axonal, Type 2y
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
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Charcot-Marie-Tooth Neuropathy, Type 2y
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Charcot-Marie-Tooth Disease, Type 2y
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Neuropathy Type 2e
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
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Cmt2 Due To Vcp Mutation
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Charcot-Marie-Tooth Disease Type 2s
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
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Cmt2
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Charcot-Marie-Tooth Neuropathy, Type 2e
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Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
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Hereditary Motor And Sensory Neuropathy Okinawa Type
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Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
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Charcot-Marie-Tooth Neuropathy Type 2y
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Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
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Charcot-Marie-Tooth Neuropathy Type 2s
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Charcot-Marie-Tooth Type 2
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
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Charcot-Marie-Tooth Disease 2e
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Charcot-Marie-Tooth Disease Axonal Type 2e
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Charcot-Marie-Tooth Disease Neuronal Type 2e
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Charcot-Marie-Tooth Disease 2s
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Charcot-Marie-Tooth Neuropathy Axonal Type 2s
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Charcot-Marie-Tooth Disease 2y
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Charcot-Marie-Tooth Disease, Type 2
|
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Hereditary Motor And Sensory-Neuropathy Type Ii
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| Neuropathy, Hereditary Motor And Sensory, Russe Type |
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Charcot-Marie-Tooth Disease Type 4g
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HMSNR
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Cmt4g
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Hereditary Motor And Sensory Neuropathy, Russe Type
|
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Charcot-Marie-Tooth Disease, Type 4g
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Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g
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Charcot-Marie-Tooth Neuropathy Type 4g
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Charcot-Marie-Tooth Neuropathy, Type 4g
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Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g
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Hereditary Motor And Sensory Neuropathy Russe Type
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Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g
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| Charcot-Marie-Tooth Disease, Type 4d |
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Charcot-Marie-Tooth Disease Type 4d
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CMT4D
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Hmsnl
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Hmsn4d
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Charcot-Marie-Tooth Neuropathy Type 4d
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Hereditary Motor And Sensory Neuropathy Lom Type
|
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Hmsn-Lom
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Neuropathy, Hereditary Motor And Sensory, Lom Type
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d
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Charcot-Marie-Tooth Neuropathy, Type 4d
|
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d
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Hmsn Lom Type
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Hmsn, Lom Type
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Hereditary Motor And Sensory Neuropathy, Lom Type
|
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Charcot-Marie-Tooth Disease 4d
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d
|
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Hereditary Motor And Sensory Neuropathy Ivd
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Hmsn Ivd
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| Charcot-Marie-Tooth Disease, Type 4c |
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Charcot-Marie-Tooth Disease Type 4c
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CMT4C
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Charcot-Marie-Tooth Neuropathy Type 4c
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c
|
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Charcot-Marie-Tooth Neuropathy, Type 4c
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c
|
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Charcot-Marie-Tooth Disease 4c
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Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c
|
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| Charcot-Marie-Tooth Disease, Type 4j |
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Charcot-Marie-Tooth Disease Type 4j
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CMT4J
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Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j
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Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
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Charcot-Marie-Tooth Disease 4j
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| Schindler Disease |
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Alpha-N-Acetylgalactosaminidase Deficiency
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Naga Deficiency
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Alpha-Galactosidase B Deficiency
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Alpha-Galnac Deficiency, Schindler Type
|
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Alpha-Naga Deficiency
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Angiokeratoma Corporis Diffusum-Glycopeptiduria
|
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Galb Deficiency
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Kanzaki Disease
|
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Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum
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Neuroaxonal Dystrophy, Schindler Type
|
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Neuronal Axonal Dystrophy, Schindler Type
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Schindler Disease, Type I
|
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Schindler Disease, Type Ii
|
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| Charcot-Marie-Tooth Disease And Deafness |
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Charcot-Marie-Tooth Disease Type 1e
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CMT1E
|
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Charcot-Marie-Tooth Disease Type 1
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Hereditary Motor And Sensory Neuropathy Type 1
|
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Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
|
Charcot-Marie-Tooth Disease, Type I
|
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Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
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Charcot-Marie-Tooth Disease, Type 1e
|
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Charcot-Marie-Tooth Disease Demyelinating Type 1e
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Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
|
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Cmt1
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Charcot-Marie-Tooth Neuropathy Type 1
|
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Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness
|
Charcot-Marie-Tooth Disease-Deafness
|
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Charcot-Marie-Tooth Type 1
|
Hmsn1
|
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Hereditary Motor And Sensory Neuropathy 1
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Cmt 1e
|
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Charcot Marie Tooth Disease Type 1e
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Charcot-Marie-Tooth Disease-Deafness Syndrome
|
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Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
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Charcot-Marie-Tooth Disease 1e
|
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Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
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Charcot-Marie-Tooth Neuropathy Type 1e
|
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Charcot-Marie-Tooth Disease, Type Ie
|
Hereditary Motor And Sensory Neuropathy Type I
|
|
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| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
CMTDIB
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Charcot-Marie-Tooth Disease Dominant Intermediate B
|
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Di-Cmtb
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Cmtdi1
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
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Charcot-Marie-Tooth Neuropathy Dominant Intermediate B
|
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CMT2M
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Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B
|
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Charcot-Marie-Tooth Disease, Axonal Type 2m
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Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
|
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Charcot-Marie-Tooth Disease 2m
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Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m
|
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Charcot-Marie-Tooth Disease Axonal Type 2m
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Charcot-Marie-Tooth Neuropathy Axonal Type 2m
|
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Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B
|
Charcot-Marie-Tooth Disease, Axonal, Type 2m
|
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Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B
|
|
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
|
Charcot-Marie-Tooth Disease Type 1c
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CMT1C
|
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Hmsn1c
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Hmsn Ic
|
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Charcot-Marie-Tooth Disease, Type 1c
|
Charcot-Marie-Tooth Neuropathy Type 1c
|
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Cmt, Slow Nerve Conduction Type C
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Charcot-Marie-Tooth Neuropathy, Type 1c
|
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Neuropathy, Hereditary Motor And Sensory, Type Ic
|
Cmt Slow Nerve Conduction Type C
|
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Neuropathy Hereditary Motor And Sensory Type 1c
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Charcot-Marie-Tooth Disease 1c
|
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Charcot-Marie-Tooth Disease Demyelinating Type 1c
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Hereditary Motor And Sensory Neuropathy Ic
|
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Charcot-Marie-Tooth Disease, Type Ic
|
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| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
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| Juvenile Glaucoma |
|
Glaucoma Of Childhood
|
Hydrophthalmos
|
|
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| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Dejerine-Sottas Disease
|
Dejerine-Sottas Syndrome
|
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Charcot-Marie-Tooth Disease Type 3
|
DSS
|
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Hereditary Motor And Sensory Neuropathy Type Iii
|
Hmsn3
|
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Dejerine-Sottas Neuropathy
|
Hmsn Iii
|
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Charcot-Marie-Tooth Disease, Type 3
|
Cmt3
|
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Dsn
|
Hmsn 3
|
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Hereditary Motor And Sensory Neuropathy Type 3
|
Hereditary Motor And Sensory Neuropathy 3
|
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Hypertrophic Neuropathy Of Infancy
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Charcot-Marie-Tooth Disease Demyelinating Type 4f
|
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Charcot-Marie-Tooth Disease Type 4f
|
Charcot-Marie-Tooth Neuropathy Type 4f
|
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Cmt4f
|
Hereditary Motor And Sensory Neuropathy Iii
|
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Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
|
|
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| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
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Neuromuscular Disorder
|
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