| 疾病名称 |
别名 |
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| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
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MLASA2
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Myopathy With Lactic Acidosis And Sideroblastic Anemia 2
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Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2
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| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
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Mitochondrial Myopathy And Sideroblastic Anemia
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MLASA1
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Mlasa
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Myopathy, Lactic Acidosis And Sideroblastic Anemia
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Myopathy With Lactic Acidosis And Sideroblastic Anemia
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Sideroblastic Anemia And Mitochondrial Myopathy
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Myopathy With Lactic Acidosis And Sideroblastic Anemia 1
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| Mitochondrial Disease |
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Mitochondrial Diseases
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Mitochondrial Disorder
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| Sideroblastic Anemia |
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Anemia Sideroblastic
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Anemia, Sideroblastic
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Anemia, Hypochromic With Iron Loading
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| Lactic Acidosis |
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Acidosis, Lactic
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Acidosis Lactic
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| Myopathy, Lactic Acidosis, And Sideroblastic Anemia |
|
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| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3 |
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| Myopathy |
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Muscular Diseases
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Myopathies
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| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
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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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| 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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| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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SIFD
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Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
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Sifd Syndrome
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| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
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Charcot-Marie-Tooth Disease Recessive Intermediate B
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CMTRIB
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Ri-Cmtb
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Charcot-Marie-Tooth Disease, Recessive Intermediate, B
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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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| 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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| Charcot-Marie-Tooth Disease Intermediate Type |
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Intermediate Charcot-Marie-Tooth Disease
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Charcot-Marie-Tooth Disease Dominant Intermediate
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Charcot-Marie-Tooth Disease Recessive Intermediate
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Intermediate Cmt
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Intermediate Hereditary Motor And Sensory Neuropathy
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Charcot-Marie-Tooth Disease, Intermediate Type
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Charcot-Marie-Tooth, Intermediate
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| Arboleda-Tham Syndrome |
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Kat6a Syndrome
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Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
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ARTHS
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Mrd32
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Mental Retardation, Autosomal Dominant 32, Formerly
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Mrd32, Formerly
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Autosomal Dominant Mental Retardation 32
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Autosomal Dominant Non-Syndromic Intellectual Disability 32
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Arboleda-Tham
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| Pearson Marrow-Pancreas Syndrome |
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Pearson Syndrome
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Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction
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Pearson'S Marrow/Pancreas Syndrome
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Pearson'S Syndrome
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Pearson'S Marrow-Pancreas Syndrome
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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
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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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| Combined Oxidative Phosphorylation Deficiency 12 |
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COXPD12
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Ltbl
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Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate
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Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome
|
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Combined Oxidative Phosphorylation Defect Type 12
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Combined Oxidative Phosphorylation Deficiency, Type 12
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| Armfield Syndrome |
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X-Linked Intellectual Disability, Armfield Type
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Armfield X-Linked Mental Retardation Syndrome
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Mental Retardation Syndrome, X-Linked, Armfield Type
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Mrxsa
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Syndromic X-Linked Mental Retardation Armfield Type
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| Charcot-Marie-Tooth Disease, Axonal, Type 2w |
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CMT2W
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w
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Charcot-Marie-Tooth Neuropathy, Type 2w
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2w
|
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Charcot-Marie-Tooth Disease, Axonal Type 2w
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Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2w
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Charcot-Marie-Tooth Neuropathy Type 2w
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Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Hars Mutation
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Charcot-Marie-Tooth Disease 2w
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| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
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Autosomal Dominant Distal Hereditary Motor Neuropathy
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Autosomal Dominant Dhmn
|
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Autosomal Dominant Distal Spinal Muscular Atrophy
|
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| Combined Oxidative Phosphorylation Deficiency 20 |
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COXPD20
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Combined Oxidative Phosphorylation Defect Type 20
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Oxidative Phosphorylation Deficiency, Combined, Type 20
|
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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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| Pontocerebellar Hypoplasia, Type 6 |
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Pontocerebellar Hypoplasia Type 6
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PCH6
|
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Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects
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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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| Mitochondrial Myopathy |
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Mitochondrial Myopathies
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Mitochondrial Cytopathy
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Myopathies In Mitochondrial Disorders
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| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
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Charcot-Marie-Tooth Disease Type 4
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Charcot-Marie-Tooth Disease Type 4e
|
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Hereditary Motor And Sensory Neuropathy
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Cmt4e
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CHN1
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Hypomyelinating Neuropathy, Congenital, 1
|
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Charcot-Marie-Tooth Neuropathy Type 4e
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Neuropathy, Congenital Hypomyelinating, 1
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Ar-Cmt1
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Autosomal Recessive Demyelinating Charcot-Marie-Tooth
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Cmt4
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Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
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Hypomyelination, Severe Congenital
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Charcot-Marie-Tooth Disease, Type 4e
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Charcot-Marie-Tooth Neuropathy, Type 4e
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Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
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Autosomal Recessive Congenital Hypomyelinating Neuropathy
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Congenital Amyelinating Neuropathy
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Congenital Hypomyelinating Neuropathy Autosomal Recessive
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Neuropathy, Congenital Hypomyelinating Or Amyelinating
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Severe Congenital Hypomyelination
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Hereditary Sensory Motor Neuropathy
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Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
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Neuropathy, Hypomyelinating, Congenital, Type 1
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Neuropathy, Motor And Sensory, Hereditary
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Congenital Hypomyelinating Neuropathy
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Hereditary Motor And Sensory Neuropathies
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Hereditary Sensorimotor Neuropathy
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Hmsn - [Hereditary Motor And Sensory Neuropathy]
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Hsmn - [Hereditary Sensory And Motor Neuropathy]
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Hereditary Motor And Sensory Neuropathy, Types I-Iv
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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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| Spastic Ataxia |
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| Charcot-Marie-Tooth Disease |
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Cmt
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Hmsn
|
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Hereditary Motor And Sensory Neuropathy
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Pma
|
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Cmt - Charcot-Marie-Tooth Disease
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Charcot Marie Tooth Disease
|
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Charcot-Marie-Tooth Hereditary Neuropathy
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Charcot-Marie-Tooth Syndrome
|
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Peroneal Muscular Atrophy
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Hereditary Motor And Sensory Neuropathies
|
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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 Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Melas Syndrome
|
MELAS
|
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Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
|
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Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
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Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
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Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
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Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
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