| 疾病名称 |
别名 |
|
| 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
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Charcot-Marie-Tooth Neuropathy Recessive Intermediate B
|
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Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B
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Ri-Cmt Type B
|
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Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
|
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| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
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LEPID
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Leukoencephalopathy, Progressive, Infantile-Onset, With/Without Deafness
|
|
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| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
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| Deafness, Autosomal Recessive 89 |
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DFNB89
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Autosomal Recessive Nonsyndromic Deafness 89
|
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Autosomal Recessive Deafness 89
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Deafness, Autosomal Recessive, 89
|
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Deafness, Autosomal Recessive, Type 89
|
|
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| Lactic Acidosis |
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Acidosis, Lactic
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Acidosis Lactic
|
|
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| Optic Nerve Disease |
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Optic Neuropathy
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Disorder Of The Second Nerve
|
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Optic Nerve Disorder
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Optic Nerve
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Abnormality Of The Optic Nerve
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Optic Nerve Disorders
|
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Neuropathy, Optic
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Disorder Of The Optic Nerve
|
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| Leukodystrophy |
|
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| Hypomyelinating Leukodystrophy |
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Hld
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Leukodystrophy, Hypomyelinating
|
|
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| Non-Syndromic Genetic Deafness |
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Nonsyndromic Genetic Hearing Loss
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Isolated Genetic Deafness
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Isolated Genetic Hearing Loss
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Non-Syndromic Genetic Hearing Loss
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| Nonsyndromic Hearing Loss |
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Nonsyndromic Deafness
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Nonsyndromic Hearing Impairment
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Nonsyndromic Hearing Loss And Deafness
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Deafness, Nonsyndromic
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Isolated Deafness
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| Sensorineural Hearing Loss |
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Sensory Hearing Loss
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Sensorineural Deafness
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Sensorineural Hearing Loss Disorder
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Hearing Loss, Sensorineural
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Central Hearing Loss
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High Frequency Deafness
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High Frequency Hearing Loss
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High-Frequency Hearing Loss
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Perceptive Deafness
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Perceptive Hearing Loss
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Perceptive Hearing Loss Or Deafness
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Hearing Loss Sensorineural
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Deafness Sensorineural
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Hearing Loss High-Frequency
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Hearing Loss, Central
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Hearing Loss, High-Frequency
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| Hypotonia |
|
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| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
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Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb
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Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
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Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb
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Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
|
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Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb
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Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
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Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
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| Microcephaly |
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Microencephaly
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Microcephalus
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Microcephalic
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Nanocephaly
|
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Congenital Microcephaly
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Brain Hypoplasia
|
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Brain Nondevelopment
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Cephalic Hypoplasia
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Undeveloped Cerebrum
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Undeveloped Brain
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Micrencephalon
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Micrencephaly
|
|
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| Polymyositis |
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| Neuronopathy, Distal Hereditary Motor, Type Va |
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Dsmav
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Distal Hereditary Motor Neuropathy Type V
|
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Young Adult-Onset Distal Hereditary Motor Neuropathy
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Neuronopathy, Distal Hereditary Motor, Type V
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Distal Hereditary Motor Neuronopathy Type 5
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Dhmn5
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Distal Spinal Muscular Atrophy Type 5
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HMN5A
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Hmn5
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Dhmn5a
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Dhmn Va
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Dsmava
|
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Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
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Distal Hmn V
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Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
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Dsma5
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Young Adult-Onset Dhmn
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Dhmn-V
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Hmn V
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Neuronopathy, Distal Hereditary Motor, Type 5a
|
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Hmn 5a
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Neuropathy, Distal Hereditary Motor, Type Va
|
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Spinal Muscular Atrophy, Distal, Type Va
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Spinal Muscular Atrophy, Distal, Type V
|
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Distal Spinal Muscular Atrophy Type V
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Distal Spinal Muscular Atrophy With Upper Limb Predominance
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Distal Hereditary Motor Neuronopathy Type 5a
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Distal Hmn Va
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Distal Spinal Muscular Atrophy Type Va
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Distal Hereditary Motor Neuropathy, Type V
|
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Distal Hereditary Motor Neuronopathy, Type V
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Distal Spinal Muscular Atrophy, Type V
|
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Spinal Muscular Atrophy, Distal Type V
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Distal Hereditary Motor Neuropathy Type 5
|
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Neuronopathy, Distal Hereditary Motor, 5a
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Dhmn V
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Distal Hereditary Motor Neuronopathy Type Va
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Distal Hereditary Motor Neuropathy Type Va
|
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Dsma-V
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Hmn Va
|
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Spinal Muscular Atrophy Distal Type V
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Spinal Muscular Atrophy Distal Type Va
|
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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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| Microcytic Anemia |
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Iron-Refractory Iron Deficiency Anemia
|
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2d |
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Charcot-Marie-Tooth Disease Type 2d
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CMT2D
|
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Charcot-Marie-Tooth Disease, Type 2d
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d
|
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Charcot-Marie-Tooth Disease Neuronal Type 2d
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Charcot-Marie-Tooth Neuropathy Type 2d
|
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Charcot-Marie-Tooth Disease, Neuronal, Type 2d
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Charcot-Marie-Tooth Neuropathy, Type 2d
|
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Charcot-Marie-Tooth Disease 2d
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Charcot-Marie-Tooth Disease Axonal Type 2d
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|
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| Leukodystrophy, Hypomyelinating, 3 |
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Hypomyelinating Leukodystrophy 3
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HLD3
|
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Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation
|
Leukodystrophy, Hypomyelinating 3
|
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Perinatal Sudanophilic Leukodystrophy
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Leukodystrophy, Hypomyelinating, Type 3
|
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Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2
|
|
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| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
CMTDIC
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Charcot-Marie-Tooth Disease Dominant Intermediate C
|
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Di-Cmtc
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Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
|
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Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C
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Charcot-Marie-Tooth Neuropathy Dominant Intermediate C
|
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Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C
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Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
|
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2n |
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Charcot-Marie-Tooth Disease Axonal Type 2n
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CMT2N
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n
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Charcot-Marie-Tooth Neuropathy Axonal Type 2n
|
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Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
|
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n
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Charcot-Marie-Tooth Disease 2n
|
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Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n
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Charcot-Marie-Tooth Disease, Type 2n
|
|
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| Developmental And Epileptic Encephalopathy 75 |
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DEE75
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Epileptic Encephalopathy, Early Infantile, 75
|
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Eiee75
|
Developmental And Epileptic Encephalopathy, 75
|
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Early Infantile Epileptic Encephalopathy 75
|
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2u |
|
CMT2U
|
Charcot-Marie-Tooth Disease Axonal Type 2u
|
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Charcot-Marie-Tooth Neuropathy, Type 2u
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u
|
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Charcot-Marie-Tooth Neuropathy Type 2u
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation
|
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Charcot-Marie-Tooth Disease 2u
|
|
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| Charcot-Marie-Tooth Disease Intermediate Type |
|
Intermediate Charcot-Marie-Tooth Disease
|
Charcot-Marie-Tooth Disease Dominant Intermediate
|
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Charcot-Marie-Tooth Disease Recessive Intermediate
|
Intermediate Cmt
|
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Intermediate Hereditary Motor And Sensory Neuropathy
|
Charcot-Marie-Tooth Disease, Intermediate Type
|
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Charcot-Marie-Tooth, Intermediate
|
|
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| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
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Charcot-Marie-Tooth Disease Type 2
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CMT2E
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CMT2S
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CMT2Y
|
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Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Disease Type 2y
|
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Charcot-Marie-Tooth Disease Axonal Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
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Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
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Charcot-Marie-Tooth Neuropathy, Type 2s
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
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Charcot-Marie-Tooth Disease, Axonal, Type 2y
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
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Charcot-Marie-Tooth Neuropathy, Type 2y
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Charcot-Marie-Tooth Disease, Type 2y
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
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Charcot-Marie-Tooth Neuropathy Type 2e
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
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Charcot-Marie-Tooth Disease Type 2s
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
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Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
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Hereditary Motor And Sensory Neuropathy Okinawa Type
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Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
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Charcot-Marie-Tooth Neuropathy Type 2y
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Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
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Charcot-Marie-Tooth Neuropathy Type 2s
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Charcot-Marie-Tooth Type 2
|
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
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Charcot-Marie-Tooth Disease 2e
|
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Charcot-Marie-Tooth Disease Axonal Type 2e
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Charcot-Marie-Tooth Disease Neuronal Type 2e
|
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Charcot-Marie-Tooth Disease 2s
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Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
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Charcot-Marie-Tooth Disease 2y
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Charcot-Marie-Tooth Disease, Type 2
|
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Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
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| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
CMTDIF
|
Charcot-Marie-Tooth Disease Dominant Intermediate F
|
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Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F
|
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Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F
|
|
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| 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
|
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Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects
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Pontocerebellar Hypoplasia 6
|
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Hypoplasia, Pontocerebellar, Type 6
|
|
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| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
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Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
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Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
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Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
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| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
MLASA2
|
Myopathy With Lactic Acidosis And Sideroblastic Anemia 2
|
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Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2
|
|
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| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
|
Autosomal Dominant Distal Hereditary Motor Neuropathy
|
Autosomal Dominant Dhmn
|
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Autosomal Dominant Distal Spinal Muscular Atrophy
|
|
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| Cataract 4, Multiple Types |
|
Cataract 4 Multiple Types
|
CTRCT4
|
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Cca3
|
Pcc
|
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Aculeiform Cataract
|
Cataract 4, Multiple Types, With Or Without Microcornea
|
|
Cataract, Crystalline Aculeiform
|
Caca
|
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Cataract, Congenital, Cerulean Type, 3
|
Congenital Cataract Cerulean Type 3
|
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Cataract Congenital Dominant Non Nuclear
|
Ccp
|
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Cataract, Nonnuclear Polymorphic Congenital
|
Cataract, Punctate, Progressive Juvenile-Onset
|
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Cataract 4 Multiple Types With Or Without Microcornea
|
Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract
|
|
Cataract, Polymorphic Congenital
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Congenital Cataract Blue Dot Type 3
|
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Congenital Non-Nuclear Polymorphic Cataract
|
Crystalline Aculeiform Cataract
|
|
Punctate, Progressive Juvenile-Onset, Cataract
|
Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant
|
|
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| Perrault Syndrome |
|
Gonadal Dysgenesis, Xx Type, With Deafness
|
Ovarian Dysgenesis With Sensorineural Deafness
|
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Gonadal Dysgenesis, Xx Type
|
Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
|
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Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
|
Xx Gonodal Dysgenesis-Deafness Syndrome
|
|
Xx Gonodal Dysgenesis-Hearing Loss Syndrome
|
Gonadal Dysgenesis Xx Type Deafness
|
|
|
| Microphthalmia |
|
Microphthalmos
|
Isolated Anophthalmia-Microphthalmia Syndrome
|
|
Isolated Microphthalmia-Anophthalmia-Coloboma
|
Simple Microphthalmos
|
|
Clinical Anophthalmia
|
Isolated Anophthalmia - Microphthalmia
|
|
Isolated Pure Microphthalmia
|
Mac Spectrum
|
|
Microphthalmia-Anophthalmia-Coloboma Spectrum
|
Primitive Anophthalmia
|
|
Globe Of Eye Small
|
Small Eyeball
|
|
Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
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Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
| 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
|
|
|
| Immune Deficiency Disease |
|
Immunodeficiency
|
Primary Immunodeficiency
|
|
Primary Immunodeficiency Disease
|
Immunologic Deficiency Syndromes
|
|
Hypoimmunity
|
Immune Deficiency Disorder
|
|
Immunodeficiency Syndrome
|
Immune Disorder
|
|
Primary Immune Deficiency Disorder
|
Immune System Diseases
|
|
Human Immunodeficiency Virus Infection
|
Hiv - [Human Immunodeficiency Virus Infection]
|
|
Hiv Positive Nos
|
Hiv Disease
|
|
Acquired Immune Deficiency Syndrome-Related Complex
|
Aids-Like Syndrome
|
|
Aids-Related Complex Nos
|
Arc - [Aids-Related Complex]
|
|
Immunodeficiency Due To Human Immunodeficiency Virus Infection
|
Unspecified Human Immunodeficiency Virus Disease
|
|
Hiv Disease Nos
|
Human Immunodeficiency Virus Positive Nos
|
|
Hiv Nos
|
Deficiency Of Complement Initial Pathway
|
|
Deficiency Of Complement Terminal Pathway
|
Cfdd - [Complement Factor D Deficiency]
|
|
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency
|
Nonfamilial Hypogammaglobulinaemia
|
|
Common Variable Immune Deficiency
|
Nonfamilial Agammaglobulinaemia
|
|
Common Variable Agammaglobulinaemia
|
Agammaglobulinaemia Nos
|
|
Agammaglobulinaemia Antibody Deficiency Syndrome
|
Hypogammaglobulinaemia Antibody Deficiency Syndrome
|
|
Acquired Agammaglobulinaemia Nos
|
Hypogammaglobulinaemia Nos
|
|
Hyper Igm
|
|
|
| Autosomal Recessive Intellectual Developmental Disorder |
|
Mental Retardation, Autosomal Recessive
|
Autosomal Recessive Mental Retardation
|
|
Autosomal Recessive Non-Syndromic Mental Retardation
|
Autosomal Recessive Non-Syndromic Intellectual Disability
|
|
|
| Pontocerebellar Hypoplasia |
|
Pch
|
Congenital Pontocerebellar Hypoplasia
|
|
Opch
|
Hypoplasia, Pontocerebellar
|
|
Pontoneocerebellar Hypoplasia
|
Nonsyndromic Pontocerebellar Hypoplasia
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Spastic Ataxia |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
