| 疾病名称 |
别名 |
|
| Nonaka Myopathy |
|
Gne Myopathy
|
Hibm
|
|
Distal Myopathy With Rimmed Vacuoles
|
Hereditary Inclusion Body Myopathy
|
|
Ibm2
|
Inclusion Body Myopathy, Quadriceps-Sparing
|
|
Qsm
|
Dmrv
|
|
Distal Myopathy, Nonaka Type
|
Inclusion Body Myopathy 2
|
|
Inclusion Body Myopathy, Autosomal Recessive
|
NM
|
|
Nonaka Distal Myopathy
|
Myopathy, Distal, With Or Without Rimmed Vacuoles
|
|
Inclusion Body Myopathy, Hereditary, Autosomal Recessive
|
Inclusion Body Myopathy Type 2
|
|
Quadriceps-Sparing Myopathy
|
Quadriceps Sparing Myopathy
|
|
Rimmed Vacuole Myopathy
|
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly
|
|
Ibm2, Formerly
|
Hibm2
|
|
Hereditary Inclusion Body Myopathy Type 2
|
Inclusion Body Myopathy 2, Autosomal Recessive
|
|
Myopathy, Distal, With Rimmed Vacuoles
|
Inclusion Body Myopathy Autosomal Recessive
|
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Myopathy, Inclusion Body, Type 2
|
Myopathy, Nonaka
|
|
|
| Sialuria |
|
Sialuria, French Type
|
French Type Sialuria
|
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Sialuria French Type
|
Sialic Acid Storage Disease
|
|
Sialic Acid Storage Disease, Finnish Type
|
Infantile Sialic Acid Storage Disease
|
|
|
| Inclusion Body Myositis |
|
Ibm
|
Sporadic Inclusion Body Myositis
|
|
Inflammatory Myopathy
|
Myositis, Inclusion Body
|
|
Inflammatory Myopathies
|
Sibm
|
|
Myositis Inclusion Body
|
Nonaka Myopathy
|
|
Inclusion Body Myopathy, Autosomal Recessive
|
Inclusion Body Myopathy, Autosomal Dominant
|
|
Myositis
|
Inclusion Body Myopathy, Sporadic
|
|
|
| Free Sialic Acid Storage Disorders |
|
Free Sialic Acid Storage Disease
|
Sialic Acid Storage Disease
|
|
N-Acetylneuraminic Acid Storage Disease
|
Nana Storage Disease
|
|
Lysosomal Free Sialic Acid Storage Disorders
|
Sialuria, Finnish Type
|
|
Sialuria
|
Sialic Acid Storage Disease, Finnish Type
|
|
|
| Bleeding Disorder, Platelet-Type, 19 |
|
Platelet-Type Bleeding Disorder 19
|
BDPLT19
|
|
Severe Autosomal Recessive Macrothrombocytopenia
|
Bleeding Disorder, Platelet Type 19
|
|
|
| Miyoshi Muscular Dystrophy |
|
Distal Myopathy
|
Distal Muscular Dystrophy
|
|
Miyoshi Myopathy
|
Distal Myopathies
|
|
Dystrophy, Muscular, Miyoshi
|
Myopathy, Distal
|
|
Distal Muscular Dystrophies
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Thrombocytopenia |
|
Low Platelet Count
|
Low Platelets
|
|
Decreased Platelets
|
Platelet Dysfunction Nos
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Myositis |
|
Idiopathic Inflammatory Myopathy
|
Idiopathic Inflammatory Myositis
|
|
Iim
|
Imm
|
|
Idiopathic Inflammatory Myopathies
|
Myopathy, Familial Idiopathic Inflammatory
|
|
Inflammatory Disorder Of Muscle
|
Idiopathic Inflammatory Myopathy, Familial
|
|
Inflammatory Myopathy, Idiopathic
|
Myopathies Idiopathic Inflammatory
|
|
Familial Idiopathic Inflammatory Myopathy
|
|
|
| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
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Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
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Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
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Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
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Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
| Limb-Girdle Muscular Dystrophy |
|
Lgmd
|
Limb Girdle Muscular Dystrophy
|
|
Muscular Dystrophies, Limb-Girdle
|
Erb'S Muscular Dystrophy
|
|
Leyden-Mbius Muscular Dystrophy
|
Limb-Girdle Syndrome
|
|
Myopathic Limb-Girdle Syndrome
|
Limb Girdle
|
|
Muscular Dystrophy Limb-Girdle
|
Dystrophy, Muscular, Limb-Girdle
|
|
Lgmd - [Limb-Girdle Muscular Dystrophy]
|
Limb Girdle Muscle Dystrophy
|
|
Limb-Girdle Myopathy
|
|
|
| Congenital Disorder Of Glycosylation, Type Iif |
|
CDG2F
|
Congenital Disorder Of Glycosylation Type Iif
|
|
Cdg Iif
|
Cdgiif
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iif
|
Cmp-Sialic Acid Transporter Deficiency
|
|
Slc35a1-Cdg
|
Cdg-Iif
|
|
Cdgiidf
|
Cdg Syndrome Type Iif
|
|
Congenital Disorder Of Glycosylation Type 2f
|
Congenital Disorder Of Glycosylation 2f
|
|
Glycosylation, Congenital Disorder Of, Type Iif
|
|
|
| Tibial Muscular Dystrophy |
|
Tmd
|
Udd Myopathy
|
|
Distal Titinopathy
|
Finnish Tibial Muscular Dystrophy
|
|
Tardive Tibial Muscular Dystrophy
|
Udd Type Distal Myopathy
|
|
Udd Distal Myopathy
|
Udd-Markesbery Muscular Dystrophy
|
|
Distal Myopathy, Udd Type
|
Distal Myopathies
|
|
Tibial Muscular Dystrophy, Tardive
|
|
|
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar Myopathy 4
|
MFM4
|
|
Zaspopathy
|
Myopathy, Myofibrillar, Zasp-Related
|
|
|
| Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2 |
|
Ibmpfd2
|
Msp2
|
|
Multisystem Proteinopathy 2
|
|
|
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Ibmpfd
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
|
|
Pagetoid Amyotrophic Lateral Sclerosis
|
Pagetoid Neuroskeletal Syndrome
|
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Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia
|
Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia
|
|
Multisystem Proteinopathy
|
Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone
|
|
Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia
|
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement
|
|
Lower Motor Neuron Degeneration With Paget-Like Bone Disease
|
Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone
|
|
Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
|
|
|
| Muscle Tissue Disease |
|
|
| Myofibrillar Myopathy |
|
Desmin Related Myopathy
|
Myotilinopathy
|
|
Myopathy, Myofibrillar
|
Alpha Beta Crystallinopathy
|
|
Desmin Storage Myopathy
|
Desminopathy
|
|
Filaminopathy
|
Protein Surplus Myopathy
|
|
Zaspopathy
|
Myofibrillar Myopathies
|
|
Myopathy, Myofibrillar, Desmin-Related
|
Myopathy, Desmin Storage
|
|
Mfm - [Myofibrillar Myopathy]
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
|
CMT2S
|
CMT2Y
|
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
|
Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
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
|
|
|
| Muscular Disease |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
Elevated Serum Cpk
|
Idiopathic Hyperckemia
|
|
Isolated Hyperckemia
|
Elevated Serum Creatine Phosphokinase
|
|
H-Ck
|
Idiopathic Persistent Elevation Of Serum Creatine Kinase
|
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
Congenital Disorder Of Glycosylation
|
CDG1N
|
|
Congenital Disorders Of Glycosylation
|
Cdg In
|
|
Cdgin
|
Congenital Disorder Of Glycosylation 1n
|
|
Carbohydrate-Deficient Glycoprotein Syndrome
|
Cdg
|
|
Rft1-Cdg
|
Cdg-In
|
|
Congenital Disorder Of Glycosylation Type In
|
Carbohydrate Deficient Glycoprotein Syndrome
|
|
Cdg Syndrome
|
Congenital Disorder Of Glycosylation In
|
|
Carbohydrate-Deficient Glycoprotein Syndromes
|
Cdg Syndrome Type In
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type In
|
Congenital Disorder Of Glycosylation Type 1n
|
|
Man5glcnac2-Pp-Dol Flippase Deficiency
|
Glycosylation, Congenital Disorder Of
|
|
Glycosylation, Congenital Disorder Of, Type In
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
