| 疾病名称 |
别名 |
|
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
HSAN1C
|
Hsan Ic
|
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Hsn1c
|
Hsn Ic
|
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Hereditary Sensory And Autonomic Neuropathy Type 1c
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Neuropathy, Hereditary Sensory And Autonomic, Type 1c
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Neuropathy, Hereditary Sensory, Type Ic
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Hereditary Sensory And Autonomic Neuropathy Type Ic
|
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Neuropathy, Hereditary Sensory And Autonomic, 1c
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Hereditary Sensory Neuropathy Type Ic
|
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Neuropathy, Hereditary Sensory/Autonomic, Type Ic
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Neuropathy, Sensory And Autonomic, Hereditary, Type Ic
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| Hereditary Sensory And Autonomic Neuropathy Type 1 |
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Hereditary Sensory And Autonomic Neuropathy Type I
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Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome
|
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Hsan1e
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Hsan1
|
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Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy
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Hsn1e
|
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Hsnie
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Hereditary Sensory Neuropathy Type Ie
|
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Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome
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Hereditary Sensory And Autonomic Neuropathy Type Ie
|
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Hereditary Sensory And Autonomic Neuropathy Type 1e
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Hereditary Sensory Neuropathy With Hearing Loss And Dementia
|
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Dnmt1-Complex Disorder
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Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss
|
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Hsn Ie
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Hereditary Sensory Autonomic Neuropathy, Type 1
|
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Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
|
|
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| Hereditary Sensory Neuropathy |
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Hereditary Sensory And Autonomic Neuropathy
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Hereditary Sensory And Autonomic Neuropathies
|
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Familial Dysautonomia, Type Ii
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Hsan
|
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Sensory Neuropathy Hereditary
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Neuropathy, Sensory And Autonomic, Hereditary
|
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Neuropathy, Sensory, Hereditary
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Sensory Neuropathy, Hereditary
|
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Charcot-Marie-Tooth Disease
|
Cmt - [Charcot-Marie-Tooth Disease]
|
|
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| Autonomic Neuropathy |
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Diabetic Autonomic Neuropathy
|
|
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| Neuropathy |
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Peripheral Neuropathy
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Peripheral Neuropathies
|
|
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| Neuropathy, Hereditary Sensory, Type Ie |
|
HSN1E
|
Hsn Ie
|
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Hereditary Sensory Neuropathy Type 1e
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Hereditary Sensory Neuropathy Type Ie
|
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Hsan 1
|
Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia
|
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Hereditary Sensory Neuropathy Type 1
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Hsn1
|
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Hereditary Sensory And Autonomic Neuropathy Type 1
|
Neuropathy Hereditary Sensory And Autonomic Type 1
|
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Neuropathy Hereditary Sensory Radicular, Autosomal Dominant
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Neuropathy, Hereditary Sensory, 1e
|
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Neuropathy Hereditary Sensory With Hearing Loss And Dementia
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Neuropathy, Hereditary Sensory, Type I
|
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Neuropathy, Sensory, Hereditary, Type Ie
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Hereditary Sensory And Autonomic Neuropathy Type Ie
|
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Hereditary Sensory Autonomic Neuropathy, Type 1
|
|
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| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
HSAN1A
|
Hsan Ia
|
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Hsan1
|
Hsn Ia
|
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Hereditary Sensory And Autonomic Neuropathy Type 1a
|
Neuropathy, Hereditary Sensory And Autonomic, Type 1a
|
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Neuropathy, Hereditary Sensory, Type Ia
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Hsn1a
|
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Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a
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Hereditary Sensory And Autonomic Neuropathy Type Ia
|
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Neuropathy, Hereditary Sensory And Autonomic, 1a
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Hereditary Sensory Neuropathy Type Ia
|
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Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a
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Hsn1
|
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Neuropathy, Sensory And Autonomic, Hereditary, Type 1a
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Hereditary Sensory Autonomic Neuropathy, Type 1
|
|
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| Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
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Hsan1b
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Hereditary Sensory Neuropathy Type 1b
|
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Hsan With Cough And Gastroesophageal Reflux
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Neuropathy, Hereditary Sensory And Autonomic, Type Ib
|
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Neuropathy, Hereditary Sensory, Type Ib
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Hsn1b
|
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Hereditary Sensory Neuropathy Type Ib
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Hereditary Sensory And Autonomic Neuropathy Type 1b
|
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Hereditary Sensory And Autonomic Neuropathy Type 1 With Cough And Gastroesophageal Reflux
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Hereditary Sensory And Autonomic Neuropathy Type Ib
|
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Hereditary Sensory Neuropathy, Type Ib
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| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
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Hereditary Sensory And Autonomic Neuropathy Type 7
|
HSAN7
|
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Hereditary Sensory And Autonomic Neuropathy Type Vii
|
Hsan Vii
|
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Cip With Hyperhidrosis And Gastrointestinal Dysfunction
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Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction
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Hsan With Hyperhidrosis And Gastrointestinal Dysfunction
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Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction
|
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Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis
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Neuropathy, Hereditary Sensory And Autonomic, 7
|
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Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis
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Neuropathy, Sensory And Autonomic, Hereditary, Type Vii
|
|
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| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
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HSAN8
|
Hsan Viii
|
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Hereditary Sensory And Autonomic Neuropathy Type 8
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Hereditary Sensory And Autonomic Neuropathy Type Viii
|
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Neuropathy, Hereditary Sensory And Autonomic, 8
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Neuropathy, Sensory And Autonomic, Hereditary, Type Viii
|
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| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
HMN2B
|
Hmn Iib
|
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Neuropathy, Distal Hereditary Motor, Type Iib
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Dhmn2b
|
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Distal Hereditary Motor Neuropathy Type 2b
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Distal Hereditary Motor Neuropathy Type Iib
|
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Neuronopathy, Distal Hereditary Motor, Type 2b
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Neuronopathy, Distal Hereditary Motor, 2b
|
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Dhmn Ii
|
Neuropathy, Motor, Distal, Hereditary, Type 2b
|
|
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| Neuropathy, Hereditary Sensory, Type Id |
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HSN1D
|
Hereditary Sensory Neuropathy Type 1d
|
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Neuropathy, Hereditary Sensory, Type 1d
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Neuropathy, Hereditary Sensory, 1d
|
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Hereditary Sensory Neuropathy Type Id
|
Neuropathy, Sensory, Hereditary, Type Id
|
|
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| Nephrotic Syndrome, Type 14 |
|
Sphingosine Phosphate Lyase Insufficiency Syndrome
|
Nephrotic Syndrome 14
|
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NPHS14
|
Splis
|
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Nephrotic Syndrome Type 14
|
Sgpl1 Deficiency
|
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Steroid-Resistant Nephrotic Syndrome Type 14
|
Familial Steroid-Resistant Nephrotic Syndrome With Adrenal Insufficiency
|
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Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due To Sgpl1 Deficiency
|
|
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| Neuronopathy, Distal Hereditary Motor, Type Iic |
|
HMN2C
|
Hmn Iic
|
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Dhmn2c
|
Distal Hereditary Motor Neuronopathy Type 2c
|
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Distal Hereditary Motor Neuropathy Type Iic
|
Neuronopathy, Distal Hereditary Motor, Type 2c
|
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Neuropathy, Distal Hereditary Motor, Type Iic
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Neuronopathy, Distal Hereditary Motor, 2c
|
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Dhmn Iic
|
Neuropathy, Motor, Distal, Hereditary, Type 2c
|
|
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| Charcot-Marie-Tooth Disease And Deafness |
|
Charcot-Marie-Tooth Disease Type 1e
|
CMT1E
|
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Charcot-Marie-Tooth Disease Type 1
|
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
|
Charcot-Marie-Tooth Disease, Type 1e
|
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Charcot-Marie-Tooth Disease Demyelinating Type 1e
|
Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
|
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Cmt1
|
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
|
Cmt 1e
|
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Charcot Marie Tooth Disease Type 1e
|
Charcot-Marie-Tooth Disease-Deafness Syndrome
|
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Charcot-Marie-Tooth Disease-Hearing Loss Syndrome
|
Charcot-Marie-Tooth Disease 1e
|
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Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant
|
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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| Ulceroglandular Tularemia |
|
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| Charcot-Marie-Tooth Disease, Type 4c |
|
Charcot-Marie-Tooth Disease Type 4c
|
CMT4C
|
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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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| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
HSAN5
|
Hereditary Sensory And Autonomic Neuropathy Type V
|
|
Hsan V
|
Hereditary Sensory And Autonomic Neuropathy Type 5
|
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Congenital Insensitivity To Pain
|
Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers
|
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Hsan Type V
|
Insensitivity To Pain, Congenital
|
|
Hereditary Sensory And Autonomic Neuropathy, Type 5
|
Congenital Insensitivity To Pain And Thermal Analgesia
|
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Neuropathy, Hereditary Sensory And Autonomic, 5
|
Hereditary Sensory Neuropathy Type V
|
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Hsn V
|
Pain Insensitivity, Congenital
|
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Neuropathy, Sensory And Autonomic, Hereditary, Type V
|
Hereditary Sensory Autonomic Neuropathy, Type 5
|
|
Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]
|
|
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| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hereditary Sensory And Autonomic Neuropathy Type 6
|
HSAN6
|
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Hsan Vi
|
Hereditary Sensory And Autonomic Neuropathy Type Vi
|
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Familial Dysautonomia With Contractures
|
Neuropathy, Hereditary Sensory And Autonomic, 6
|
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Hereditary Sensory Neuropathy Type Vi
|
Hsn Vi
|
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Neuropathy, Sensory And Autonomic, Hereditary, Type Vi
|
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| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
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Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
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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
|
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Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
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Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
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Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
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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, X-Linked Dominant, 1 |
|
CMTX1
|
Cmtx
|
|
Charcot-Marie-Tooth Disease X-Linked Dominant 1
|
Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1
|
|
X-Linked Charcot-Marie-Tooth Disease
|
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
|
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Cmt1x
|
X-Linked Charcot-Marie-Tooth Disease Type 1
|
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X-Linked Hereditary Motor And Sensory Neuropathy
|
Hereditary Motor And Sensory Neuropathy, X-Linked
|
|
Hmsn, X-Linked
|
Charcot-Marie-Tooth Neuropathy, X-Linked, 1
|
|
Cmt2, Formerly
|
Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1
|
|
Charcot-Marie-Tooth Neuropathy X-Linked 1
|
Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked
|
|
Hereditary Motor And Sensory Neuropathy X-Linked
|
Hmsn X-Linked
|
|
Charcot-Marie-Tooth, X-Linked
|
Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1
|
|
Charcot-Marie-Tooth Disease, X-Linked, 1
|
|
|
| Distal Hereditary Motor Neuronopathy Type 2 |
|
Distal Hereditary Motor Neuropathy, Type Ii
|
Distal Hereditary Motor Neuropathy Type 2
|
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Distal Hereditary Motor Neuropathy Type Ii
|
Hmn Ii
|
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Hmn2
|
Distal Hereditary Motor Neuronopathy, Type Ii
|
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Distal Spinal Muscular Atrophy Type 2
|
Dhmn2
|
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Dsma2
|
Neuropathy, Motor, Distal, Hereditary, Type Ii
|
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Spinal Muscular Atrophy, Jerash Type
|
|
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| Leber Congenital Amaurosis 1 |
|
LCA1
|
Amaurosis Congenita Of Leber I
|
|
Lca
|
Retinal Blindness, Congenital
|
|
Crb
|
Leber Congenital Amaurosis Type I
|
|
Leber Congenital Amaurosis, Type 1
|
Amaurosis Congenita Of Leber, Type 1
|
|
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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
|
|
|
