疾病名称 |
别名 |
|
Myopathy, Centronuclear, 1 |
Autosomal Dominant Centronuclear Myopathy
|
CNM1
|
Centronuclear Myopathy 1
|
Ad-Cnm
|
Myopathy, Centronuclear, Autosomal Dominant
|
Myotubular Myopathy, Autosomal Dominant
|
Centronuclear Myopathy, Autosomal, Modifier Of
|
Autosomal Dominant Myotubular Myopathy
|
Dnm2-Related Centronuclear Myopathy
|
Centronuclear Myopathy Autosomal Dominant
|
Myopathies, Structural, Congenital
|
Myopathy, Centronuclear, Type 1
|
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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
|
|
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Lethal Congenital Contracture Syndrome 5 |
LCCS5
|
Fetal Akinesia-Cerebral And Retinal Hemorrhage Syndrome
|
Myopathy, Centronuclear, Lethal, Autosomal Recessive
|
Lethal Congenital Contracture Syndrome Type 5
|
Autosomal Recessive Lethal Centronuclear Myopathy
|
Contracture Syndrome, Lethal, Congenital, Type 5
|
|
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Centronuclear Myopathy |
Myopathy, Centronuclear
|
Myotubular Myopathy
|
Cnm
|
Myopathy, Myotubular
|
Congenital Structural Myopathy
|
|
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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
|
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Myopathy |
Muscular Diseases
|
Myopathies
|
|
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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
|
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Charcot-Marie-Tooth Disease Dominant Intermediate A |
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type A
|
Cmtdia
|
Charcot-Marie-Tooth Neuropathy Dominant Intermediate A
|
Di-Cmta
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Charcot-Marie-Tooth Disease, Dominant Intermediate, Type A
|
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Neuropathy |
Peripheral Neuropathy
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Peripheral Neuropathies
|
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Batten-Turner Congenital Myopathy |
Congenital Myopathy
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Batten Turner Congenital Myopathy
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Myopathy Congenital
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Myopathy, Congenital
|
Myotonia Congenita
|
Benign Congenital Myopathy
|
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Lethal Congenital Contracture Syndrome |
Lccs
|
Lethal Congenital Contracture Syndrome 1
|
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Neuropathy, Hereditary Sensory, Type Id |
HSN1D
|
Hereditary Sensory Neuropathy Type 1d
|
Neuropathy, Hereditary Sensory, Type 1d
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Neuropathy, Hereditary Sensory, 1d
|
Hereditary Sensory Neuropathy Type Id
|
Neuropathy, Sensory, Hereditary, Type Id
|
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Charcot-Marie-Tooth Disease Intermediate Type |
Intermediate Charcot-Marie-Tooth Disease
|
Charcot-Marie-Tooth Disease Dominant Intermediate
|
Charcot-Marie-Tooth Disease Recessive Intermediate
|
Intermediate Cmt
|
Intermediate Hereditary Motor And Sensory Neuropathy
|
Charcot-Marie-Tooth Disease, Intermediate Type
|
Charcot-Marie-Tooth, Intermediate
|
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Tooth Disease |
Tooth Diseases
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Teeth Disease
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Tooth Disorders
|
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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
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
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
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
Charcot-Marie-Tooth Disease Axonal Type 2e
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Charcot-Marie-Tooth Disease Neuronal Type 2e
|
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
|
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Peliosis Hepatis |
Hepatic Peliosis
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Telangiectasis Of Liver
|
Angiomatosis Of Liver
|
Ph - [Peliosis Hepatis]
|
Hepatic Angiomatosis
|
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Charcot-Marie-Tooth Disease, Dominant Intermediate C |
CMTDIC
|
Charcot-Marie-Tooth Disease Dominant Intermediate C
|
Di-Cmtc
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
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Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C
|
Charcot-Marie-Tooth Neuropathy Dominant Intermediate C
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
|
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Ptosis |
Blepharoptosis
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Drooping Eyelid
|
Droopy Eyelid
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Ptosis Of Eyelid
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Paralysis Of Levator Palpebrae Superioris
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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
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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
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Charcot-Marie-Tooth Disease, Type 4e
|
Charcot-Marie-Tooth Neuropathy, Type 4e
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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
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Hereditary Sensory Motor Neuropathy
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
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Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
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Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
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Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
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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
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Charcot-Marie-Tooth Disease, Type I
|
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant
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Charcot-Marie-Tooth Disease, Type 1e
|
Charcot-Marie-Tooth Disease Demyelinating Type 1e
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Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
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Cmt1
|
Charcot-Marie-Tooth Neuropathy Type 1
|
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness
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Charcot-Marie-Tooth Disease-Deafness
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Charcot-Marie-Tooth Type 1
|
Hmsn1
|
Hereditary Motor And Sensory Neuropathy 1
|
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
|
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, Axonal, Type 2b |
Charcot-Marie-Tooth Disease Type 2b
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CMT2B
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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
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Charcot-Marie-Tooth Neuropathy, Type 2b
|
Hereditary Motor And Sensory Nueropathy Iib
|
Cmt 2b
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Charcot Marie Tooth Disease Type 2b
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Charcot-Marie-Tooth Disease, Neuronal, Type 2b
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Hereditary Motor And Sensory Neuropathy 2 B
|
Peripheral Sensory Neuropathy, Autosomal Dominant
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Charcot-Marie-Tooth Disease 2b
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Charcot-Marie-Tooth Disease Axonal Type 2b
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Charcot-Marie-Tooth Disease Neuronal Type 2b
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Peripheral Sensory Neuropathy Autosomal Dominant
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Psn
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Charcot-Marie-Tooth Disease, Axonal, Type 2a1 |
CMT2A1
|
Charcot-Marie-Tooth Disease Type 2a1
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Hereditary Motor And Sensory Neuropathy Iia1
|
Hmsn Iia1
|
Hmsn2a1
|
Charcot-Marie-Tooth Disease, Type 2a1
|
Charcot-Marie-Tooth Disease Neuronal Type 2a1
|
Charcot-Marie-Tooth Neuropathy Type 2a1
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1
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Charcot-Marie-Tooth Disease, Neuronal, Type 2a1
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Charcot-Marie-Tooth Neuropathy, Type 2a1
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Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
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Charcot-Marie-Tooth Disease 2a1
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Charcot-Marie-Tooth Disease Axonal Type 2a1
|
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Hereditary Motor And Sensory Neuropathy, Type Iic |
CMT2C
|
Charcot-Marie-Tooth Disease Axonal Type 2c
|
HMSN2C
|
Hmsn Iic
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c
|
Charcot-Marie-Tooth Neuropathy Type 2c
|
Hereditary Motor And Sensory Neuropathy Type Iic
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c
|
Charcot-Marie-Tooth Neuropathy, Type 2c
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Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c
|
Charcot-Marie-Tooth Disease 2c
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c
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Charcot-Marie-Tooth Disease, Type 2c
|
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Central Core Disease Of Muscle |
Central Core Disease
|
Central Core Myopathy
|
CCD
|
Cco
|
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber
|
Myopathy, Central Core
|
Shy-Magee Syndrome
|
Muscle Core Disease
|
Muscular Central Core Disease
|
Myopathy, Central Fibrillar
|
Shy'S Disease
|
Moderate Multiminicore Disease With Hand Involvement
|
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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
|
|
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Myopathy, Centronuclear, 2 |
Myopathy, Centronuclear, Autosomal Recessive
|
Autosomal Recessive Centronuclear Myopathy
|
CNM2
|
Centronuclear Myopathy 2
|
Ar-Cnm
|
Myotubular Myopathy, Autosomal Recessive
|
Autosomal Recessive Myotubular Myopathy
|
Centronuclear Myopathy Autosomal Recessive
|
Myopathy, Centronuclear, Type 2
|
|
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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
|
|
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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
|
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Congenital Fiber-Type Disproportion |
Congenital Fiber Type Disproportion
|
Cftdm
|
Congenital Myopathy With Fiber Type Disproportion
|
Cftd
|
Congenital Fiber-Type Disproportion Myopathy
|
Fiber-Type Disproportion Myopathy, Congenital
|
Myopathy, Congenital With Fiber-Type Disproportion
|
|
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Charcot-Marie-Tooth Disease, Axonal, Type 2b2 |
Charcot-Marie-Tooth Disease Type 2b2
|
CMT2B2
|
Arcmt2b
|
Charcot-Marie-Tooth Disease, Type 2b2
|
Ar-Cmt2b2
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2
|
Autosomal Recessive Axonal Cmt4c3
|
Charcot-Marie-Tooth Disease Neuronal Type 2b2
|
Charcot-Marie-Tooth Neuropathy Type 2b2
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2
|
Charcot-Marie-Tooth Neuropathy, Type 2b2
|
Charcot-Marie-Tooth Disease 2b2
|
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2
|
Charcot-Marie-Tooth Disease Axonal Type 2b2
|
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Multiminicore Disease |
Multiminicore Myopathy
|
Mmd
|
Minicore Disease
|
Minicore Myopathy
|
Multi-Core Congenital Myopathy
|
Multi-Core Disease
|
Multi-Minicore Disease
|
Multicore Disease
|
Multicore Myopathy
|
Minicore Myopathy With External Ophthalmoplegia
|
|
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Ocular Motility Disease |
Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
Disorder Of Eye Movements
|
Eye Movement Disorder
|
Eye Movement Disorders
|
|
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Fragile X Syndrome |
FXS
|
Martin-Bell Syndrome
|
Fraxa Syndrome
|
Marker X Syndrome
|
X-Linked Mental Retardation And Macroorchidism
|
Fragile X Mental Retardation Syndrome
|
Fra Syndrome
|
Mental Retardation, X-Linked, Associated With Marxq28
|
X-Linked Intellectual Disability And Macroorchidism
|
Frax Syndrome
|
Symptomatic Form Of Fragile X Syndrome In Female Carriers
|
Fragile-X Syndrome
|
Fraxe Syndrome
|
|
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Noonan Syndrome 3 |
NS3
|
Noonan Syndrome, Type 3
|
|
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Neuromuscular Disease |
Neuromuscular Diseases
|
Neuromuscular Disorders
|
Neuromuscular Disorder
|
|
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Congenital Myasthenic Syndrome |
Congenital Myasthenia
|
Congenital Myasthenic Syndromes
|
Cms
|
Myasthenic Syndromes, Congenital
|
Myasthenic Syndromes Congenital
|
Myasthenic Syndrome, Congenital
|
Congenital Myasthenic Syndrome Ib
|
Congenital And Developmental Myasthenia
|
Developmental Myasthenia
|
|
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Distal Arthrogryposis |
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
Rossi Syndrome
|
Amc
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
Hereditary Spastic Paraplegia |
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
Hsp
|
Spg
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
Fsp
|
Spastic Paraplegia, Familial
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
|
Peripheral Nervous System Disease |
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
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