| 疾病名称 |
别名 |
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2n |
|
Charcot-Marie-Tooth Disease Axonal Type 2n
|
CMT2N
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2n
|
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n
|
Charcot-Marie-Tooth Disease 2n
|
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n
|
Charcot-Marie-Tooth Disease, Type 2n
|
|
|
| Developmental And Epileptic Encephalopathy 29 |
|
DEE29
|
Epileptic Encephalopathy, Early Infantile, 29
|
|
Eiee29
|
Developmental And Epileptic Encephalopathy, 29
|
|
Early Infantile Epileptic Encephalopathy 29
|
Encephalopathy, Developmental And Epileptic, Type 29
|
|
|
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
HDLS2
|
Leukoencephalopathy, Hereditary Diffuse, With Spheroids, Swedish Type
|
|
Hdls-S
|
Swedish Type Hereditary Diffuse Leukoencephalopathy With Spheroids
|
|
|
| Trichothiodystrophy 8, Nonphotosensitive |
|
TTD8
|
Trichothiodystrophy 8, Non-Photosensitive
|
|
|
| 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
|
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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
|
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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
|
|
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
|
|
|
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Undetermined Early-Onset Epileptic Encephalopathy
|
Non-Specific Eoee
|
|
Undetermined Eoee
|
|
|
| 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
|
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Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Myositis |
|
Idiopathic Inflammatory Myopathy
|
Idiopathic Inflammatory Myositis
|
|
Iim
|
Imm
|
|
Idiopathic Inflammatory Myopathies
|
Myopathy, Familial Idiopathic Inflammatory
|
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Inflammatory Disorder Of Muscle
|
Idiopathic Inflammatory Myopathy, Familial
|
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Inflammatory Myopathy, Idiopathic
|
Myopathies Idiopathic Inflammatory
|
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Familial Idiopathic Inflammatory Myopathy
|
|
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| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Hereditary Diffuse Leukoencephalopathy With Spheroids
|
Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia
|
|
Alsp
|
Gpsc
|
|
Subcortical Gliosis Of Neumann
|
Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1
|
|
Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids
|
Hdls
|
|
HDLS1
|
Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia
|
|
Gliosis, Familial Progressive Subcortical
|
Leukoencephalopathy, Diffuse Hereditary, With Spheroids
|
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Pold
|
Pigmentary Orthochromatic Leukodystrophy
|
|
Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia
|
Familial Progressive Subcortical Gliosis
|
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Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant
|
Dementia, Familial, Neumann Type
|
|
Adult-Onset Leukodystrophy With Neuroaxonal Spheroids
|
Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids
|
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Neuroaxonal Leukodystrophy
|
Fpsg
|
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Familial Dementia, Neumann Type
|
Familial Dementia Neumann Type
|
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Leukoencephalopathy, Diffuse Hereditary, With Spheroid
|
|
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| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
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Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
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| Trichothiodystrophy |
|
Ttd
|
Amish Brittle Hair Syndrome
|
|
Bids Syndrome
|
Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
|
|
Ibids
|
Pibids
|
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Trichothiodystrophy Syndromes
|
|
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| Polymyositis |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2d |
|
Charcot-Marie-Tooth Disease Type 2d
|
CMT2D
|
|
Charcot-Marie-Tooth Disease, Type 2d
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2d
|
Charcot-Marie-Tooth Neuropathy Type 2d
|
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2d
|
Charcot-Marie-Tooth Neuropathy, Type 2d
|
|
Charcot-Marie-Tooth Disease 2d
|
Charcot-Marie-Tooth Disease Axonal Type 2d
|
|
|
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Charcot-Marie-Tooth Disease Recessive Intermediate B
|
CMTRIB
|
|
Ri-Cmtb
|
Charcot-Marie-Tooth Disease, Recessive Intermediate, B
|
|
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B
|
Charcot-Marie-Tooth Neuropathy Recessive Intermediate B
|
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Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B
|
Ri-Cmt Type B
|
|
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
|
|
|
| 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
|
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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
|
Neuropathy, Distal Hereditary Motor, Type V
|
|
Neuropathy, Motor, Distal, Hereditary, Type Va
|
|
|
| Dermatomyositis |
|
Amyopathic Dermatomyositis
|
Dermatopolymyositis
|
|
Adult Dermatomyositis
|
Polymyositis With Skin Involvement
|
|
Adult Type Dermatomyositis
|
Petges-Clejat Syndrome
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2u |
|
CMT2U
|
Charcot-Marie-Tooth Disease Axonal Type 2u
|
|
Charcot-Marie-Tooth Neuropathy, Type 2u
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u
|
|
Charcot-Marie-Tooth Neuropathy Type 2u
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation
|
|
Charcot-Marie-Tooth Disease 2u
|
|
|
| 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
|
|
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
|
|
|
| Tooth Disease |
|
Tooth Diseases
|
Teeth Disease
|
|
Tooth Disorders
|
|
|
| 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
|
|
|
| Usher Syndrome, Type Iiib |
|
Usher Syndrome Type 3b
|
USH3B
|
|
Usher Syndrome Type Iiib
|
Usher Syndrome 3b
|
|
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| Motor Peripheral Neuropathy |
|
Motor Neuritis
|
Peripheral Motor Neuropathy
|
|
Hereditary Motor And Sensory Neuropathy
|
Hsmn
|
|
Hsmn - Hereditary Sensory And Motor Neuropathy
|
Neuropathic Muscular Atrophy
|
|
Hereditary Sensory And Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| 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, Axonal, Type 2a1 |
|
CMT2A1
|
Charcot-Marie-Tooth Disease Type 2a1
|
|
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
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2a1
|
|
Charcot-Marie-Tooth Neuropathy, Type 2a1
|
Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
|
Charcot-Marie-Tooth Disease 2a1
|
|
Charcot-Marie-Tooth Disease Axonal Type 2a1
|
|
|
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
ICP1
|
Intrahepatic Cholestasis Of Pregnancy 1
|
|
Cholestasis, Pregnancy-Related, 1
|
Pregnancy Related Cholestasis 1
|
|
Cholestasis Of Pregnancy, Intrahepatic 1
|
Obstetric Cholestasis
|
|
Pregnancy-Related Cholestasis
|
Recurrent Intrahepatic Cholestasis Of Pregnancy
|
|
Cholestasis, Intrahepatic, Of Pregnancy, Type 1
|
Cholestasis Of Pregnancy
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2i |
|
CMT2I
|
Charcot-Marie-Tooth Disease, Type 2i
|
|
Charcot-Marie-Tooth Disease Type 2i
|
Charcot-Marie-Tooth Neuropathy Type 2i
|
|
Charcot-Marie-Tooth Neuropathy, Type 2i
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i
|
|
Charcot-Marie-Tooth Disease 2i
|
Charcot-Marie-Tooth Disease Axonal Type 2i
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2i
|
|
|
| Combined Oxidative Phosphorylation Deficiency 12 |
|
COXPD12
|
Ltbl
|
|
Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate
|
Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome
|
|
Combined Oxidative Phosphorylation Defect Type 12
|
Combined Oxidative Phosphorylation Deficiency, Type 12
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2w |
|
CMT2W
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w
|
|
Charcot-Marie-Tooth Neuropathy, Type 2w
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2w
|
|
Charcot-Marie-Tooth Disease, Axonal Type 2w
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2w
|
|
Charcot-Marie-Tooth Neuropathy Type 2w
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Hars Mutation
|
|
Charcot-Marie-Tooth Disease 2w
|
|
|
| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
|
Autosomal Dominant Distal Hereditary Motor Neuropathy
|
Autosomal Dominant Dhmn
|
|
Autosomal Dominant Distal Spinal Muscular Atrophy
|
|
|
| Antisynthetase Syndrome |
|
As Syndrome
|
Anti-Jo1 Syndrome
|
|
|
| Pontocerebellar Hypoplasia, Type 6 |
|
Pontocerebellar Hypoplasia Type 6
|
PCH6
|
|
Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects
|
Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects
|
|
Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects
|
Pontocerebellar Hypoplasia 6
|
|
Hypoplasia, Pontocerebellar, Type 6
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2l |
|
Charcot-Marie-Tooth Disease Axonal Type 2l
|
CMT2L
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l
|
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2l
|
Charcot-Marie-Tooth Disease 2l
|
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l
|
Charcot-Marie-Tooth Disease Neuronal Type 2l
|
|
Charcot-Marie-Tooth Neuropathy Type 2l
|
Charcot-Marie-Tooth Disease, Type 2l
|
|
Charcot-Marie-Tooth Disease, Type 2i
|
|
|
| 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
|
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
CADASIL2
|
Cadasil 2
|
|
Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2
|
Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease
|
|
Htra1-Related Autosomal Dominant Cerebral Angiopathy
|
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2
|
|
Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2
|
|
|
| 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, Axonal, Type 2f |
|
Charcot-Marie-Tooth Disease Axonal Type 2f
|
CMT2F
|
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2f
|
Charcot-Marie-Tooth Neuropathy, Type 2f
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f
|
Charcot-Marie-Tooth Neuropathy Type 2f
|
|
Charcot-Marie-Tooth Neuronal Type 2f
|
Charcot-Marie-Tooth Disease Type 2f
|
|
Cmt 2f
|
Charcot Marie Tooth Disease Type 2f
|
|
Charcot-Marie-Tooth Disease 2f
|
Charcot-Marie-Tooth Disease Neuronal Type 2f
|
|
Charcot-Marie-Tooth Disease, Type 2f
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
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| Charcot-Marie-Tooth Disease Type 2a2b |
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Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency
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Ar-Cmt2, Ouvrier Type
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Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type
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Seoan Due To Mfn2 Deficiency
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Charcot-Marie-Tooth Disease, Axonal, Type 2a2b
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Cmt2a2b
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Charcot-Marie-Tooth Disease, Type 2a2b
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| Clubfoot |
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Congenital Talipes Equinovarus
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Congenital Clubfoot
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Congenital Equinovarus
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Equinovarus Deformity Of Foot
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Club Foot
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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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| Developmental And Epileptic Encephalopathy |
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Encephalopathy, Developmental And Epileptic
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|
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| Perrault Syndrome |
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Gonadal Dysgenesis, Xx Type, With Deafness
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Ovarian Dysgenesis With Sensorineural Deafness
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Gonadal Dysgenesis, Xx Type
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Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
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Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
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Xx Gonodal Dysgenesis-Deafness Syndrome
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Xx Gonodal Dysgenesis-Hearing Loss Syndrome
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Gonadal Dysgenesis Xx Type Deafness
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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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| Mitochondrial Dna Depletion Syndrome 4a |
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Alpers Syndrome
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Alpers-Huttenlocher Syndrome
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Alpers Progressive Infantile Poliodystrophy
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Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
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Alpers Disease
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Progressive Sclerosing Poliodystrophy
|
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Pndc
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Diffuse Cerebral Sclerosis Of Schilder
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MTDPS4A
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Neuronal Degeneration Of Childhood With Liver Disease, Progressive
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Alper'S Syndrome
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Alpers' Disease Or Gray-Matter Degeneration
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Diffuse Cerebral Degeneration In Infancy
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Infantile Poliodystrophy
|
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Poliodystrophia Cerebri Progressiva
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Progressive Cerebral Poliodystrophy
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Alpers' Disease
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Alpers Progressive Sclerosing Poliodystrophy
|
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Progressive Neuronal Degeneration Of Childhood With Liver Disease
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Ahs
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Mitochondrial Dna Depletion Syndrome 4a Alpers Type
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Neuronal Degeneration Of Childhood With Liver Disease Progressive
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|
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| Pontocerebellar Hypoplasia |
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Pch
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Congenital Pontocerebellar Hypoplasia
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Opch
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Hypoplasia, Pontocerebellar
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Pontoneocerebellar Hypoplasia
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Nonsyndromic Pontocerebellar Hypoplasia
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| Hypomyelinating Leukodystrophy |
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Hld
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Leukodystrophy, Hypomyelinating
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| Early Infantile Epileptic Encephalopathy |
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Early Infantile Epileptic Encephalopathy With Burst-Suppression
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Early Infantile Epileptic Encephalopathy With Suppression Bursts
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Eiee
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Early Infantile Epileptic Encephalopathy With Suppression-Bursts
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Ohtahara Syndrome
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Encephalopathy, Epileptic, Early Infantile
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
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