| 疾病名称 |
别名 |
|
| Myopathy, Centronuclear, X-Linked |
|
X-Linked Myotubular Myopathy
|
Xlmtm
|
|
X-Linked Centronuclear Myopathy
|
Xlcnm
|
|
CNMX
|
Mtm1
|
|
Myotubular Myopathy, X-Linked
|
Mtmx
|
|
Myotubular Myopathy 1
|
Centronuclear Myopathy X-Linked
|
|
Myotubular Myopathy
|
Mtm
|
|
Cnm
|
Xmtm
|
|
Myotubular Myopathy Type 1
|
|
|
| Respiratory System Disease |
|
Abnormality Of The Respiratory System
|
Respiration Disorders
|
|
Respiratory Tract Diseases
|
|
|
| Centronuclear Myopathy |
|
Myopathy, Centronuclear
|
Myotubular Myopathy
|
|
Cnm
|
Myopathy, Myotubular
|
|
Congenital Structural Myopathy
|
|
|
| Polyhydramnios |
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Primary Microcephaly |
|
True Microcephaly
|
Microcephaly, Primary
|
|
|
| Myotubular Myopathy With Abnormal Genital Development |
|
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
|
Xq28 Contiguous Gene Deletion Syndrome
|
|
|
| Charcot-Marie-Tooth Disease, Type 4b1 |
|
Charcot-Marie-Tooth Disease Type 4b1
|
CMT4B1
|
|
Cmt4b
|
Charcot-Marie-Tooth Neuropathy Type 4b1
|
|
Charcot-Marie-Tooth Disease Type 4b
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1
|
|
Charcot-Marie-Tooth Neuropathy, Type 4b1
|
Charcot-Marie-Tooth Disease, Type 4b
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1
|
Charcot-Marie-Tooth Disease 4b1
|
|
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
|
|
|
| Batten-Turner Congenital Myopathy |
|
Congenital Myopathy
|
Batten Turner Congenital Myopathy
|
|
Myopathy Congenital
|
Myopathy, Congenital
|
|
Myotonia Congenita
|
Benign Congenital Myopathy
|
|
|
| Peliosis Hepatis |
|
Hepatic Peliosis
|
Telangiectasis Of Liver
|
|
Angiomatosis Of Liver
|
Ph - [Peliosis Hepatis]
|
|
Hepatic Angiomatosis
|
|
|
| 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
|
|
|
| Inflammatory Bowel Disease 21 |
|
|
| Infective Endocarditis |
|
Bacterial Endocarditis
|
Endocarditis, Infective
|
|
Infectious Endocarditis
|
Endocarditis Infective
|
|
|
| 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
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| 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
|
|
|
| Sensory Peripheral Neuropathy |
|
Sensory Neuropathy
|
Peripheral Sensory Neuropathy
|
|
Hereditary Sensory And Autonomic Neuropathies
|
|
|
| Inflammatory Bowel Disease 8 |
|
|
| Myotonic Dystrophy 1 |
|
Myotonic Dystrophy
|
Dystrophia Myotonica
|
|
Steinert Disease
|
Myotonic Dystrophy Type 1
|
|
Myotonia Atrophica
|
DM1
|
|
Congenital Myotonic Dystrophy
|
Myotonia Dystrophica
|
|
Steinert Myotonic Dystrophy
|
Dystrophia Myotonica 1
|
|
Dm
|
Steinert'S Disease
|
|
Steinert Myotonic Dystrophy Syndrome
|
Myotonic Dystrophy Of Steinert
|
|
Dystrophia Myotonica Type 1
|
Myotonic Dystrophy Congenital
|
|
Dystrophy, Myotonic, Type 1
|
Dm - [Dystrophia Myotonica]
|
|
Myotonic Muscular Dystrophy
|
|
|
| Charcot-Marie-Tooth Disease, Type 4b3 |
|
Charcot-Marie-Tooth Disease Type 4b3
|
CMT4B3
|
|
Charcot-Marie-Tooth Disease With Focally Folded Myelin
|
Charcot-Marie-Tooth Disease 4b3
|
|
Charcot-Marie-Tooth Neuropathy Type 4b3
|
|
|
| Myopathy, Centronuclear, 2 |
|
Myopathy, Centronuclear, Autosomal Recessive
|
Autosomal Recessive Centronuclear Myopathy
|
|
CNM2
|
Centronuclear Myopathy 2
|
|
Ar-Cnm
|
Myotubular Myopathy, Autosomal Recessive
|
|
Autosomal Recessive Myotubular Myopathy
|
Centronuclear Myopathy Autosomal Recessive
|
|
Myopathy, Centronuclear, Type 2
|
|
|
| Tooth Disease |
|
Tooth Diseases
|
Teeth Disease
|
|
Tooth Disorders
|
|
|
| Endocardium Disease |
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
Charcot-Marie-Tooth Disease Type 4b2
|
CMT4B2
|
|
Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2
|
Charcot-Marie-Tooth Neuropathy, Type 4b2
|
|
Charcot-Marie-Tooth Neuropathy Type 4b2
|
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
|
|
Cmt 4b2
|
Charcot Marie Tooth Disease Type 4b2
|
|
Charcot-Marie-Tooth Disease 4b2
|
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
|
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
CMTDIB
|
Charcot-Marie-Tooth Disease Dominant Intermediate B
|
|
Di-Cmtb
|
Cmtdi1
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m
|
Charcot-Marie-Tooth Neuropathy Dominant Intermediate B
|
|
CMT2M
|
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B
|
|
Charcot-Marie-Tooth Disease, Axonal Type 2m
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
|
|
Charcot-Marie-Tooth Disease 2m
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m
|
|
Charcot-Marie-Tooth Disease Axonal Type 2m
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2m
|
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B
|
Charcot-Marie-Tooth Disease, Axonal, Type 2m
|
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B
|
|
|
| Ocular Motility Disease |
|
Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
|
Disorder Of Eye Movements
|
Eye Movement Disorder
|
|
Eye Movement Disorders
|
|
|
| Muscular Atrophy |
|
Muscle Wasting
|
Amyotrophia
|
|
Wasting - Muscle
|
Skeletal Muscle Atrophy
|
|
|
| Dentin Caries |
|
Compound Dental Caries
|
Dental Caries Extending Into Dentine
|
|
Dental Caries Extending Into Dentin
|
|
|
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Hereditary Myopathy With Early Respiratory Failure
|
Hmerf
|
|
Myopathy, Proximal, With Early Respiratory Muscle Involvement
|
Edstrom Myopathy
|
|
Mfm-Titinopathy
|
MFM9
|
|
Mprm
|
Hereditary Inclusion Body Myopathy With Early Respiratory Failure
|
|
Hibm-Erf
|
Myofibrillar Myopathy-Titinopathy
|
|
Myofibrillar Myopathy With Early Respiratory Failure
|
Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant
|
|
Myofibrillar Myopathy 9
|
Myofibrillar Myopathy 9 With Early Respiratory Failure
|
|
Autosomal Dominant Distal Myopathy With Early Respiratory Failure
|
Proximal Myopathy With Early Respiratory Muscle Involvement
|
|
Hereditary Proximal Myopathy With Early Respiratory Failure
|
Admerf
|
|
Edström Myopathy
|
Hmerf-Erf
|
|
|
| Muscle Tissue Disease |
|
|
| Charcot-Marie-Tooth Disease, Type 4j |
|
Charcot-Marie-Tooth Disease Type 4j
|
CMT4J
|
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
|
|
Charcot-Marie-Tooth Disease 4j
|
|
|
| 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]
|
|
|
| Brachial Plexus Neuritis |
|
Brachial Neuritis
|
Parsonage-Aldren-Turner Syndrome
|
|
|
| Capillary Malformations, Congenital |
|
Familial Multiple Nevi Flammei
|
Nevi Flammei, Familial Multiple
|
|
CMC
|
Port-Wine Stain
|
|
Capillary Malformations
|
Cmal
|
|
Familial Multiple Port-Wine Stains
|
Capillary Malformation
|
|
Capillary Malformations, Congenital, 1, Somatic, Mosaic
|
Congenital Capillary Malformations
|
|
Port-Wine Stain Familial Multiple
|
Hereditary Capillary Malformations
|
|
Capillary Malformations, Hereditary
|
Capillary Malformations, Congenital, Type 1, Somatic, Mosaic
|
|
Strawberry Nevus Of Skin
|
Naevus Flammeus
|
|
|
| Muscular Disease |
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric Septal Hypertrophy
|
Familial Hypertrophic Cardiomyopathy
|
|
Hypertrophic Cardiomyopathy 1
|
CMH1
|
|
Hypertrophic Cardiomyopathy 19
|
CMH
|
|
Ventricular Hypertrophy, Hereditary
|
Ash
|
|
Hypertrophic Subaortic Stenosis, Idiopathic
|
Cardiomyopathy, Familial Hypertrophic
|
|
Cardiomyopathy, Hypertrophic, 1, Digenic
|
Cardiomyopathy, Familial Hypertrophic 1
|
|
Hcm
|
Hereditary Ventricular Hypertrophy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Hypertrophic Cardiomyopathy
|
|
Cardiomyopathy, Hypertrophic, Familial
|
Cardiomyopathy, Hypertrophic, 1
|
|
Familial Asymmetric Septal Hypertrophy
|
Heritable Hypertrophic Cardiomyopathy
|
|
Fhc
|
Cardiomyopathy, Hypertrophic, Familial, Type 1
|
|
|
| Hypotonia |
|
|
| Malignant Hyperthermia |
|
Anesthesia Related Hyperthermia
|
Malignant Hyperpyrexia Due To Anesthesia
|
|
Hyperpyrexia, Malignant
|
Hyperthermia, Malignant
|
|
Malignant Hyperpyrexia
|
Mhs
|
|
Malignant Fever
|
|
|
| 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
|
|
|
| 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
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
