| 疾病名称 |
别名 |
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
Charcot-Marie-Tooth Disease Type 4b2
|
CMT4B2
|
|
Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2
|
Charcot-Marie-Tooth Neuropathy, Type 4b2
|
|
Charcot-Marie-Tooth Neuropathy Type 4b2
|
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
|
|
Cmt 4b2
|
Charcot Marie Tooth Disease Type 4b2
|
|
Charcot-Marie-Tooth Disease 4b2
|
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
|
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
|
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
| Charcot-Marie-Tooth Disease, Type 4b1 |
|
Charcot-Marie-Tooth Disease Type 4b1
|
CMT4B1
|
|
Cmt4b
|
Charcot-Marie-Tooth Neuropathy Type 4b1
|
|
Charcot-Marie-Tooth Disease Type 4b
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1
|
|
Charcot-Marie-Tooth Neuropathy, Type 4b1
|
Charcot-Marie-Tooth Disease, Type 4b
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1
|
Charcot-Marie-Tooth Disease 4b1
|
|
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Tooth Disease |
|
Tooth Diseases
|
Teeth Disease
|
|
Tooth Disorders
|
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Centronuclear Myopathy |
|
Myopathy, Centronuclear
|
Myotubular Myopathy
|
|
Cnm
|
Myopathy, Myotubular
|
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Congenital Structural Myopathy
|
|
|
| Charcot-Marie-Tooth Disease, Type 4b3 |
|
Charcot-Marie-Tooth Disease Type 4b3
|
CMT4B3
|
|
Charcot-Marie-Tooth Disease With Focally Folded Myelin
|
Charcot-Marie-Tooth Disease 4b3
|
|
Charcot-Marie-Tooth Neuropathy Type 4b3
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
|
CMT2S
|
CMT2Y
|
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
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Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
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Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
Charcot-Marie-Tooth Disease Neuronal Type 2e
|
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Charcot-Marie-Tooth Disease 2s
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
|
Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
Charcot-Marie-Tooth Disease Type 1e
|
CMT1E
|
|
Charcot-Marie-Tooth Disease Type 1
|
Hereditary Motor And Sensory Neuropathy Type 1
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e
|
Charcot-Marie-Tooth Disease, Type I
|
|
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
|
Charcot-Marie-Tooth Disease, Type 1e
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1e
|
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
|
|
Cmt1
|
Charcot-Marie-Tooth Neuropathy Type 1
|
|
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness
|
Charcot-Marie-Tooth Disease-Deafness
|
|
Charcot-Marie-Tooth Type 1
|
Hmsn1
|
|
Hereditary Motor And Sensory Neuropathy 1
|
Cmt 1e
|
|
Charcot Marie Tooth Disease Type 1e
|
Charcot-Marie-Tooth Disease-Deafness Syndrome
|
|
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
|
Charcot-Marie-Tooth Disease 1e
|
|
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
|
Charcot-Marie-Tooth Neuropathy Type 1e
|
|
Charcot-Marie-Tooth Disease, Type Ie
|
Hereditary Motor And Sensory Neuropathy Type I
|
|
|
| Charcot-Marie-Tooth Disease, Type 4c |
|
Charcot-Marie-Tooth Disease Type 4c
|
CMT4C
|
|
Charcot-Marie-Tooth Neuropathy Type 4c
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c
|
|
Charcot-Marie-Tooth Neuropathy, Type 4c
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c
|
|
Charcot-Marie-Tooth Disease 4c
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
|
Charcot-Marie-Tooth Disease Type 4f
|
CMT4F
|
|
Charcot-Marie-Tooth Disease, Type 4f
|
Charcot-Marie-Tooth Disease 4f
|
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f
|
Charcot-Marie-Tooth Neuropathy Type 4f
|
|
Dejerine-Sottas Disease
|
|
|
| Charcot-Marie-Tooth Disease, Type 4h |
|
Charcot-Marie-Tooth Disease Type 4h
|
CMT4H
|
|
Charcot-Marie-Tooth Neuropathy Type 4h
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h
|
Charcot-Marie-Tooth Neuropathy, Type 4h
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h
|
|
Charcot-Marie-Tooth Disease 4h
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h
|
|
|
| Myopathy, Centronuclear, X-Linked |
|
X-Linked Myotubular Myopathy
|
Xlmtm
|
|
X-Linked Centronuclear Myopathy
|
Xlcnm
|
|
CNMX
|
Mtm1
|
|
Myotubular Myopathy, X-Linked
|
Mtmx
|
|
Myotubular Myopathy 1
|
Centronuclear Myopathy X-Linked
|
|
Myotubular Myopathy
|
Mtm
|
|
Cnm
|
Xmtm
|
|
Myotubular Myopathy Type 1
|
|
|
| Charcot-Marie-Tooth Disease, Type 4j |
|
Charcot-Marie-Tooth Disease Type 4j
|
CMT4J
|
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
|
|
Charcot-Marie-Tooth Disease 4j
|
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
CMTDIB
|
Charcot-Marie-Tooth Disease Dominant Intermediate B
|
|
Di-Cmtb
|
Cmtdi1
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
|
Charcot-Marie-Tooth Neuropathy Dominant Intermediate B
|
|
CMT2M
|
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B
|
|
Charcot-Marie-Tooth Disease, Axonal Type 2m
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
|
|
Charcot-Marie-Tooth Disease 2m
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m
|
|
Charcot-Marie-Tooth Disease Axonal Type 2m
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2m
|
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B
|
Charcot-Marie-Tooth Disease, Axonal, Type 2m
|
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B
|
|
|
| Charcot-Marie-Tooth Disease, Type 4a |
|
Charcot-Marie-Tooth Disease Type 4a
|
CMT4A
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a
|
Charcot-Marie-Tooth Neuropathy, Type 4a
|
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a
|
Charcot-Marie-Tooth Neuropathy Type 4a
|
|
Charcot-Marie-Tooth Disease 4a
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a
|
|
Charcot-Marie-Tooth Disease Neuropathy Type 4a
|
|
|
| Charcot-Marie-Tooth Disease, Type 4d |
|
Charcot-Marie-Tooth Disease Type 4d
|
CMT4D
|
|
Hmsnl
|
Hmsn4d
|
|
Charcot-Marie-Tooth Neuropathy Type 4d
|
Hereditary Motor And Sensory Neuropathy Lom Type
|
|
Hmsn-Lom
|
Neuropathy, Hereditary Motor And Sensory, Lom Type
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d
|
Charcot-Marie-Tooth Neuropathy, Type 4d
|
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d
|
Hmsn Lom Type
|
|
Hmsn, Lom Type
|
Hereditary Motor And Sensory Neuropathy, Lom Type
|
|
Charcot-Marie-Tooth Disease 4d
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d
|
|
Hereditary Motor And Sensory Neuropathy Ivd
|
Hmsn Ivd
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
|
Charcot-Marie-Tooth Disease Type 1c
|
CMT1C
|
|
Hmsn1c
|
Hmsn Ic
|
|
Charcot-Marie-Tooth Disease, Type 1c
|
Charcot-Marie-Tooth Neuropathy Type 1c
|
|
Cmt, Slow Nerve Conduction Type C
|
Charcot-Marie-Tooth Neuropathy, Type 1c
|
|
Neuropathy, Hereditary Motor And Sensory, Type Ic
|
Cmt Slow Nerve Conduction Type C
|
|
Neuropathy Hereditary Motor And Sensory Type 1c
|
Charcot-Marie-Tooth Disease 1c
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1c
|
Hereditary Motor And Sensory Neuropathy Ic
|
|
Charcot-Marie-Tooth Disease, Type Ic
|
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
Glaucoma
|
IOPQTL
|
|
Glaucoma, Susceptibility To
|
Postinfectious Glaucoma
|
|
Glaucoma With Ocular Inflammation
|
Glaucoma Secondary To Eye Inflammation
|
|
Traumatic Glaucoma
|
Glaucoma With Concussion Of Globe
|
|
Glaucoma Due To Ocular Trauma
|
Glaucoma Associated With Ocular Trauma
|
|
Glaucoma Secondary To Drugs
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2j |
|
CMT2J
|
Charcot-Marie-Tooth Disease, Type 2j
|
|
Charcot-Marie-Tooth Disease Type 2j
|
Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities
|
|
Charcot-Marie-Tooth Neuropathy Type 2j
|
Charcot-Marie-Tooth Neuropathy, Type 2j
|
|
Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j
|
|
Charcot-Marie-Tooth Disease 2j
|
Charcot-Marie-Tooth Disease Axonal Type 2j
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2j
|
|
|
| Neuropathy, Hereditary Sensory, Type Ie |
|
HSN1E
|
Hsn Ie
|
|
Hereditary Sensory Neuropathy Type 1e
|
Hereditary Sensory Neuropathy Type Ie
|
|
Hsan 1
|
Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia
|
|
Hereditary Sensory Neuropathy Type 1
|
Hsn1
|
|
Hereditary Sensory And Autonomic Neuropathy Type 1
|
Neuropathy Hereditary Sensory And Autonomic Type 1
|
|
Neuropathy Hereditary Sensory Radicular, Autosomal Dominant
|
Neuropathy, Hereditary Sensory, 1e
|
|
Neuropathy Hereditary Sensory With Hearing Loss And Dementia
|
Neuropathy, Hereditary Sensory, Type I
|
|
Neuropathy, Sensory, Hereditary, Type Ie
|
Hereditary Sensory And Autonomic Neuropathy Type Ie
|
|
Hereditary Sensory Autonomic Neuropathy, Type 1
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
|
Charcot-Marie-Tooth Disease Type 1b
|
CMT1B
|
|
Hereditary Motor And Sensory Neuropathy Ib
|
Hmsn Ib
|
|
Hmsn1b
|
Peroneal Muscular Atrophy
|
|
Charcot-Marie-Tooth Disease, Type 1b
|
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy
|
|
Charcot-Marie-Tooth Neuropathy Type 1b
|
Charcot-Marie-Tooth Disease, Type Ib
|
|
Hereditary Motor And Sensory Neuropathy I
|
Hmsn I
|
|
Hmsn1
|
Charcot-Marie-Tooth Neuropathy, Type 1b
|
|
Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy
|
Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b
|
Charcot-Marie-Tooth Disease 1b
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1b
|
Hmsn Type I
|
|
Hereditary Motor And Sensory Neuropathy Type I
|
Charcot-Marie-Tooth Disease
|
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
CMTDIE
|
Charcot-Marie-Tooth Disease Dominant Intermediate E
|
|
Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E
|
|
Charcot-Marie-Tooth Disease-Nephropathy Syndrome
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E
|
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E
|
|
|
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Dejerine-Sottas Disease
|
Dejerine-Sottas Syndrome
|
|
Charcot-Marie-Tooth Disease Type 3
|
DSS
|
|
Hereditary Motor And Sensory Neuropathy Type Iii
|
Hmsn3
|
|
Dejerine-Sottas Neuropathy
|
Hmsn Iii
|
|
Charcot-Marie-Tooth Disease, Type 3
|
Cmt3
|
|
Dsn
|
Hmsn 3
|
|
Hereditary Motor And Sensory Neuropathy Type 3
|
Hereditary Motor And Sensory Neuropathy 3
|
|
Hypertrophic Neuropathy Of Infancy
|
Charcot-Marie-Tooth Disease Demyelinating Type 4f
|
|
Charcot-Marie-Tooth Disease Type 4f
|
Charcot-Marie-Tooth Neuropathy Type 4f
|
|
Cmt4f
|
Hereditary Motor And Sensory Neuropathy Iii
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
|
|
|
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Tomaculous Neuropathy
|
Hereditary Neuropathy With Liability To Pressure Palsies
|
|
HNPP
|
Polyneuropathy, Familial Recurrent
|
|
Neuropathy, Recurrent, With Pressure Palsies
|
Current Pressure-Sensitive Neuropathy
|
|
Familial Recurrent Polyneuropathy
|
Heterozygous Microdeletion 17p11.2p12
|
|
Potato-Grubbing Palsy
|
Tulip-Bulb Digger'S Palsy
|
|
Compression Neuropathy
|
Entrapment Neuropathy
|
|
Familial Pressure Sensitive Neuropathy
|
Hereditary Motor And Sensory Neuropathy
|
|
Hereditary Pressure Sensitive Neuropathy
|
Inherited Tendency To Pressure Palsies
|
|
Hereditary Liability To Pressure Palsies
|
Nerve Compression Syndrome
|
|
Entrapment Neuropathies
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b |
|
Charcot-Marie-Tooth Disease Type 2b
|
CMT2B
|
|
Hmsn Iib
|
Hmsn2b
|
|
Charcot-Marie-Tooth Disease, Type 2b
|
Hereditary Motor And Sensory Neuropathy Iib
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b
|
Charcot-Marie-Tooth Neuropathy Type 2b
|
|
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b
|
Charcot-Marie-Tooth Neuropathy, Type 2b
|
|
Hereditary Motor And Sensory Nueropathy Iib
|
Cmt 2b
|
|
Charcot Marie Tooth Disease Type 2b
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2b
|
|
Hereditary Motor And Sensory Neuropathy 2 B
|
Peripheral Sensory Neuropathy, Autosomal Dominant
|
|
Charcot-Marie-Tooth Disease 2b
|
Charcot-Marie-Tooth Disease Axonal Type 2b
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2b
|
Peripheral Sensory Neuropathy Autosomal Dominant
|
|
Psn
|
|
|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
Dsmav
|
Distal Hereditary Motor Neuropathy Type V
|
|
Young Adult-Onset Distal Hereditary Motor Neuropathy
|
Neuronopathy, Distal Hereditary Motor, Type V
|
|
Distal Hereditary Motor Neuronopathy Type 5
|
Dhmn5
|
|
Distal Spinal Muscular Atrophy Type 5
|
HMN5A
|
|
Hmn5
|
Dhmn5a
|
|
Dhmn Va
|
Dsmava
|
|
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
|
Distal Hmn V
|
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
|
Dsma5
|
|
Young Adult-Onset Dhmn
|
Dhmn-V
|
|
Hmn V
|
Neuronopathy, Distal Hereditary Motor, Type 5a
|
|
Hmn 5a
|
Neuropathy, Distal Hereditary Motor, Type Va
|
|
Spinal Muscular Atrophy, Distal, Type Va
|
Spinal Muscular Atrophy, Distal, Type V
|
|
Distal Spinal Muscular Atrophy Type V
|
Distal Spinal Muscular Atrophy With Upper Limb Predominance
|
|
Distal Hereditary Motor Neuronopathy Type 5a
|
Distal Hmn Va
|
|
Distal Spinal Muscular Atrophy Type Va
|
Distal Hereditary Motor Neuropathy, Type V
|
|
Distal Hereditary Motor Neuronopathy, Type V
|
Distal Spinal Muscular Atrophy, Type V
|
|
Spinal Muscular Atrophy, Distal Type V
|
Distal Hereditary Motor Neuropathy Type 5
|
|
Neuronopathy, Distal Hereditary Motor, 5a
|
Dhmn V
|
|
Distal Hereditary Motor Neuronopathy Type Va
|
Distal Hereditary Motor Neuropathy Type Va
|
|
Dsma-V
|
Hmn Va
|
|
Spinal Muscular Atrophy Distal Type V
|
Spinal Muscular Atrophy Distal Type Va
|
|
Spinal Muscular Atrophy Distal With Upper Limb Predominance
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Neuropathy, Distal Hereditary Motor, Type V
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Neuropathy, Motor, Distal, Hereditary, Type Va
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| Charcot-Marie-Tooth Disease Intermediate Type |
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Intermediate Charcot-Marie-Tooth Disease
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Charcot-Marie-Tooth Disease Dominant Intermediate
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Charcot-Marie-Tooth Disease Recessive Intermediate
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Intermediate Cmt
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Intermediate Hereditary Motor And Sensory Neuropathy
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Charcot-Marie-Tooth Disease, Intermediate Type
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Charcot-Marie-Tooth, Intermediate
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
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Charcot-Marie-Tooth Disease Type 1a
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CMT1A
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Charcot-Marie-Tooth Disease, Type Ia
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Hmsn1a
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Hereditary Motor And Sensory Neuropathy Ia
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Hmsn Ia
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Charcot-Marie-Tooth Neuropathy, Type 1a
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Charcot-Marie-Tooth Disease, Type 1a
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Charcot-Marie-Tooth Neuropathy Type 1a
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Hereditary Motor And Sensory Neuropathy 1a
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Microduplication 17p12
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Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a
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Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a
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Cmt 1a
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Charcot Marie Tooth Disease Type 1a
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Hmsn 1a
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Charcot-Marie-Tooth Disease 1a
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Charcot-Marie-Tooth Disease Demyelinating Type 1a
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Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
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Charcot-Marie-Tooth Disease Type 1d
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CMT1D
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Hmsn Id
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Hmsn1d
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Charcot-Marie-Tooth Disease, Type 1d
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Hereditary Motor And Sensory Neuropathy 1d
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Charcot-Marie-Tooth Neuropathy Type 1d
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Charcot-Marie-Tooth Neuropathy, Type 1d
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Charcot-Marie-Tooth Disease 1d
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Charcot-Marie-Tooth Disease Demyelinating Type 1d
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Hereditary Motor And Sensory Neuropathy Id
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Charcot-Marie-Tooth Disease, Type Id
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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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| Hereditary Motor And Sensory Neuropathy, Type Iic |
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CMT2C
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Charcot-Marie-Tooth Disease Axonal Type 2c
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HMSN2C
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Hmsn Iic
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c
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Charcot-Marie-Tooth Neuropathy Type 2c
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Hereditary Motor And Sensory Neuropathy Type Iic
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c
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Charcot-Marie-Tooth Neuropathy, Type 2c
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Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c
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Charcot-Marie-Tooth Disease 2c
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Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c
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Charcot-Marie-Tooth Disease, Type 2c
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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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| Yunis-Varon Syndrome |
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Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia
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Yunis Varon Syndrome
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YVS
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Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
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Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia
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Yunis-Varón Syndrome
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| Corneal Dystrophy, Fleck |
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Fleck Corneal Dystrophy
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Fcd
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CFD
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Corneal Fleck Dystrophy
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Francois-Neetens Speckled Corneal Dystrophy
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Corneal Dystrophy, Francois-Neetens Speckled Or Flecked
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Corneal Dystrophy Francois-Neetens Speckled Or Flecked
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Dystrophy, Corneal, Fleck
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| Charcot-Marie-Tooth Disease, Axonal, Type 2t |
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CMT2T
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Charcot-Marie-Tooth Disease Axonal Type 2t
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Charcot-Marie-Tooth Neuropathy, Type 2t
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t
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Ar-Cmt2t
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Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t
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Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2
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Charcot-Marie-Tooth Neuropathy Type 2t
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Charcot-Marie-Tooth Disease Type 2t
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Mme-Related Autosomal Dominant Cmt2
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Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2
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Charcot-Marie-Tooth Disease 2t
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Charcot-Marie-Tooth Neuropathy Axonal Type 2t
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| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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CMTX1
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Cmtx
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Charcot-Marie-Tooth Disease X-Linked Dominant 1
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Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1
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X-Linked Charcot-Marie-Tooth Disease
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Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
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Cmt1x
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X-Linked Charcot-Marie-Tooth Disease Type 1
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X-Linked Hereditary Motor And Sensory Neuropathy
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Hereditary Motor And Sensory Neuropathy, X-Linked
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Hmsn, X-Linked
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Charcot-Marie-Tooth Neuropathy, X-Linked, 1
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Cmt2, Formerly
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Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1
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Charcot-Marie-Tooth Neuropathy X-Linked 1
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Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked
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Hereditary Motor And Sensory Neuropathy X-Linked
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Hmsn X-Linked
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Charcot-Marie-Tooth, X-Linked
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Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1
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Charcot-Marie-Tooth Disease, X-Linked, 1
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| Neuromuscular Disease |
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Neuromuscular Diseases
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Neuromuscular Disorders
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Neuromuscular Disorder
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| Joubert Syndrome 1 |
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Joubert Syndrome
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Jbts
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Cerebellooculorenal Syndrome 1
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JBTS1
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Joubert-Boltshauser Syndrome
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Cerebelloparenchymal Disorder Iv
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Cpd4
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Cors1
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Joubert Syndrome And Related Disorders
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Jsrd
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Familial Aplasia Of The Vermis
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Joubert Syndrome Related Disorders
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Js
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Cerebellar Vermis Agenesis
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Cerebelloparenchymal Disorder 4
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Agenesis Of Cerebellar Vermis
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Cerebello-Oculo-Renal Syndrome
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Cors
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Joubert-Bolthauser Syndrome
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Cpd Iv
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Classic Joubert Syndrome
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Joubert Syndrome Type A
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Pure Joubert Syndrome
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Cerebello-Oculo-Renal Syndrome 1
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Joubert Syndrome-1
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Joubert Syndrome, Type 1
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Joubert'S Syndrome
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| Peripheral Nervous System Disease |
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Peripheral Neuropathy
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Peripheral Nerve Disease
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Peripheral Nerve Disorders
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Neuropathy, Peripheral
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Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
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