| 疾病名称 |
别名 |
|
| Myopathy, Congenital, Bailey-Bloch |
|
Native American Myopathy
|
Nam
|
|
MYPBB
|
Myopathy, Congenital, Baily-Bloch
|
|
Anti-Hmg-Coa Myopathy
|
Anti-Srp Myopathy
|
|
Autoimmune Necrotizing Myositis
|
Imnm
|
|
Immune Myopathy With Myocyte Necrosis
|
Immune-Mediated Necrotizing Myopathy
|
|
Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia
|
Necrotizing Autoimmune Myopathy
|
|
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome
|
Congenital Myopathy With Cleft Palate And Malignant Hyperthermia
|
|
|
| Stac3 Disorder |
|
Native American Myopathy
|
Bailey-Bloch Congenital Myopathy
|
|
Congenital Myopathy - Cleft Palate - Malignant Hyperthermia
|
Congenital Myopathy Cleft Palate And Malignant Hyperthermia
|
|
Congenital Myopathy With Myopathic Facies, Scoliosis, And Malignant Hyperthermia
|
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome
|
|
Myopathy, Congenital, Bailey-Bloch
|
Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia
|
|
Nam
|
|
|
| Malignant Hyperthermia |
|
Anesthesia Related Hyperthermia
|
Malignant Hyperpyrexia Due To Anesthesia
|
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Hyperpyrexia, Malignant
|
Hyperthermia, Malignant
|
|
Malignant Hyperpyrexia
|
Mhs
|
|
Malignant Fever
|
|
|
| King-Denborough Syndrome |
|
King Denborough Syndrome
|
King Syndrome
|
|
Kousseff Nichols Syndrome
|
KDS
|
|
Noonan Like Contracture Myopathy Hyperpyrexia
|
Anesthetic-Induced Malignant Hyperpyrexia In Children
|
|
Koussef-Nichols Syndrome
|
|
|
| Carey-Fineman-Ziter Syndrome 1 |
|
Carey-Fineman-Ziter Syndrome
|
CFZS
|
|
Congenital Nonprogressive Myopathy With Moebius And Robin Sequences
|
Myopathy, Congenital Nonprogressive, With Moebius Sequence And Robin Sequence
|
|
Cfz Syndrome
|
Carey Fineman Ziter Syndrome
|
|
Myopathy, Congenital Nonprogressive With Moebius And Robin Sequences
|
Myopathy-Moebius-Robin Syndrome
|
|
CFZS1
|
Moebius Sequence, Robin Complex, And Hypotonia
|
|
Congenital Non-Progressive Myopathy With Moebius And Robin Sequences
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Malignant Hyperthermia Susceptibility |
|
Malignant Hyperpyrexia
|
Hyperthermia, Malignant, Susceptibility
|
|
Malignant Hyperpyrexia Due To Anesthesia
|
|
|
| Fibrosis Of Extraocular Muscles, Congenital, 3a, With Or Without Extraocular Involvement |
|
CFEOM3A
|
Fibrosis Of Extraocular Muscles, Congenital, 3a
|
|
Congenital Fibrosis Of The Extraocular Muscles 3a
|
Feom3 Locus
|
|
Congenital Fibrosis Of Extraocular Muscles 3a With Or Without Extraocular Involvement
|
Feom3
|
|
Tubb3 Syndrome
|
Fibrosis Of Extraocular Muscles, Congenital, Type 3a
|
|
|
| Familial Periodic Paralysis |
|
Genetic Periodic Paralysis
|
Paralyses, Familial Periodic
|
|
|
| Central Core Disease Of Muscle |
|
Central Core Disease
|
Central Core Myopathy
|
|
CCD
|
Cco
|
|
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber
|
Myopathy, Central Core
|
|
Shy-Magee Syndrome
|
Muscle Core Disease
|
|
Muscular Central Core Disease
|
Myopathy, Central Fibrillar
|
|
Shy'S Disease
|
Moderate Multiminicore Disease With Hand Involvement
|
|
|
| Developmental And Epileptic Encephalopathy 42 |
|
DEE42
|
Epileptic Encephalopathy, Early Infantile, 42
|
|
Eiee42
|
Developmental And Epileptic Encephalopathy, 42
|
|
Early Infantile Epileptic Encephalopathy 42
|
Encephalopathy, Epileptic, Early Infantile, Type 42
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
EMARDD
|
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset, Mild Variant
|
|
Early-Onset Myopathy-Areflexia-Respiratory Distress-Dysphagia Syndrome
|
Early-Onset Myopathy, Areflexia, Respiratory Distress And Dysphagia
|
|
Myopathy, Early-Onset, Areflexia, Respiratory Distress, And Dysphagia
|
|
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemic Periodic Paralysis
|
Hokpp
|
|
Hypopp
|
Westphall Disease
|
|
HOKPP1
|
Familial Hypokalemic Periodic Paralysis
|
|
Familial Periodic Paralysis
|
Westphal Disease
|
|
Hypokalemic Periodic Paralysis Type 1
|
Hypokalemic Familial Periodic Paralysis
|
|
Periodic Hypokalemic Paralysis
|
Periodic Paralysis I
|
|
Hypokpp
|
Primary Hypokalemic Periodic Paralysis
|
|
Periodic Paralysis Hypokalemic 1
|
Paralysis, Hypokalemic, Periodic
|
|
Paralysis, Hypokalemic, Periodic, Type 1
|
|
|
| Myopathy, Centronuclear, 1 |
|
Autosomal Dominant Centronuclear Myopathy
|
CNM1
|
|
Centronuclear Myopathy 1
|
Ad-Cnm
|
|
Myopathy, Centronuclear, Autosomal Dominant
|
Myotubular Myopathy, Autosomal Dominant
|
|
Centronuclear Myopathy, Autosomal, Modifier Of
|
Autosomal Dominant Myotubular Myopathy
|
|
Dnm2-Related Centronuclear Myopathy
|
Centronuclear Myopathy Autosomal Dominant
|
|
Myopathies, Structural, Congenital
|
Myopathy, Centronuclear, Type 1
|
|
|
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple Pterygium Syndrome
|
Pterygium
|
|
Escobar Syndrome
|
EVMPS
|
|
Pterygium Syndrome
|
Autosomal Recessive Multiple Pterygium Syndrome
|
|
Pterygium Colli Syndrome
|
Pterygium Universale
|
|
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
|
Escobar Variant Multiple Pterygium Syndrome
|
|
Multiple Pterygium Syndrome, Nonlethal Type
|
Surfer'S Eye
|
|
Multiple Pterygium Syndrome Escobar Type
|
Multiple Pterygium Syndrome Nonlethal Type
|
|
Familial Pterygium Syndrome
|
Pterygium Colli
|
|
Multiple Pterygium Syndrome, Non-Lethal Type
|
Nonlethal Type Multiple Pterygium Syndrome
|
|
Pterygium Syndrome, Multiple, Escobar Type
|
Pterygium Of Eye
|
|
Web Eye
|
|
|
| Alzheimer Disease 8 |
|
Ad8
|
Alzheimer'S Disease 8
|
|
Alzheimer Disease, Familial, 8
|
Alzheimer Disease, Familial 8
|
|
Alzheimer'S Disease 8, Late Onset
|
|
|
| Multiminicore Disease |
|
Multiminicore Myopathy
|
Mmd
|
|
Minicore Disease
|
Minicore Myopathy
|
|
Multi-Core Congenital Myopathy
|
Multi-Core Disease
|
|
Multi-Minicore Disease
|
Multicore Disease
|
|
Multicore Myopathy
|
Minicore Myopathy With External Ophthalmoplegia
|
|
|
| Congenital Fiber-Type Disproportion |
|
Congenital Fiber Type Disproportion
|
Cftdm
|
|
Congenital Myopathy With Fiber Type Disproportion
|
Cftd
|
|
Congenital Fiber-Type Disproportion Myopathy
|
Fiber-Type Disproportion Myopathy, Congenital
|
|
Myopathy, Congenital With Fiber-Type Disproportion
|
|
|
| Batten-Turner Congenital Myopathy |
|
Congenital Myopathy
|
Batten Turner Congenital Myopathy
|
|
Myopathy Congenital
|
Myopathy, Congenital
|
|
Myotonia Congenita
|
Benign Congenital Myopathy
|
|
|
| Lagophthalmos |
|
Defective Lid Closure
|
Poor Closure Eyelids
|
|
|
| Congenital Structural Myopathy |
|
|
| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
|
Rossi Syndrome
|
Amc
|
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
|
|
| Congenital Ptosis |
|
Congenital Blepharoptosis
|
Congenital Eyelid Ptosis
|
|
|
| Bethlem Myopathy 1 |
|
Bethlem Myopathy
|
Myopathy, Benign Congenital, With Contractures
|
|
Muscular Dystrophy, Benign Congenital
|
BTHLM1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5
|
Lgmdd5
|
|
Benign Congenital Muscular Dystrophy
|
Benign Autosomal Dominant Myopathy
|
|
Myopathy, Bethlem
|
Myopathy, Bethlem, Type 1
|
|
|
| Congenital Fibrosis Of The Extraocular Muscles |
|
Congenital Fibrosis Of Extraocular Muscles
|
Cfeom
|
|
Feom
|
Congenital External Ophthalmoplegia
|
|
Congenital Fibrosis Syndrome
|
General Fibrosis Syndrome
|
|
|
| Centronuclear Myopathy |
|
Myopathy, Centronuclear
|
Myotubular Myopathy
|
|
Cnm
|
Myopathy, Myotubular
|
|
Congenital Structural Myopathy
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Congenital Myasthenic Syndrome |
|
Congenital Myasthenia
|
Congenital Myasthenic Syndromes
|
|
Cms
|
Myasthenic Syndromes, Congenital
|
|
Myasthenic Syndromes Congenital
|
Myasthenic Syndrome, Congenital
|
|
Congenital Myasthenic Syndrome Ib
|
Congenital And Developmental Myasthenia
|
|
Developmental Myasthenia
|
|
|
