| 疾病名称 |
别名 |
|
| Arthrogryposis, Distal, Type 1a |
|
Distal Arthrogryposis Type 1
|
Digitotalar Dysmorphism
|
|
DA1A
|
Da1
|
|
Amcd1
|
Arthrogryposis, Distal, Type 2b4
|
|
Distal Arthrogryposis Type 1a
|
Arthrogryposis, Distal, Type 1
|
|
Arthrogryposis Multiplex Congenita Distal Type 1
|
Arthrogryposis Multiplex Congenita, Distal Type 1
|
|
Arthrogryposis Multiplex Congenita, Distal, Type I
|
Distal Arthrogryposis Type 1b
|
|
Arthrogryposis, Distal, 1a
|
Amc
|
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis, Distal, 2b4
|
|
DA2B4
|
Arthrogryposis Multiplex Congenita, Distal, Type 1
|
|
Arthrogryposis
|
|
|
| Nemaline Myopathy 4 |
|
Cap Myopathy 2
|
NEM4
|
|
Nemaline Myopathy 4, Autosomal Dominant
|
Nemaline Myopathy, Type 4
|
|
CAPM2
|
Cap Disease
|
|
Cap Myopathy Tpm2-Related
|
Tpm2-Related Nemaline Myopathy
|
|
Tpm2-Related Cap Myopathy
|
Myopathy, Nemaline, Type 4
|
|
Cap Myopathy
|
|
|
| Cap Myopathy |
|
Cap Disease
|
Congenital Myopathy With Caps
|
|
|
| Arthrogryposis, Distal, Type 2b1 |
|
Sheldon-Hall Syndrome
|
Freeman-Sheldon Syndrome Variant
|
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Distal Arthrogryposis Type 2b1
|
DA2B1
|
|
Arthrogryposis Multiplex Congenita, Distal, Type 2b
|
Shs
|
|
Distal Arthrogryposis Type 2b
|
Fssv
|
|
Arthrogryposis Multiplex Congenita Distal Type 2b
|
Arthrogryposis Multiplex Congenita Distal Type Ii With Craniofacial Abnormalities
|
|
Da2b
|
Arthrogryposis Multiplex Congenita, Distal, Type Ii, With Craniofacial Abnormalities
|
|
Distal Arthrogryposis Type Iib
|
Freeman Sheldon Syndrome, Variant
|
|
Freeman Sheldon Variant
|
Arthrogryposis, Distal, 2b1
|
|
Amcd2b
|
|
|
| Congenital Fiber-Type Disproportion |
|
Congenital Fiber Type Disproportion
|
Cftdm
|
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Congenital Myopathy With Fiber Type Disproportion
|
Cftd
|
|
Congenital Fiber-Type Disproportion Myopathy
|
Fiber-Type Disproportion Myopathy, Congenital
|
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Myopathy, Congenital With Fiber-Type Disproportion
|
|
|
| Childhood-Onset Nemaline Myopathy |
|
Mild Nemaline Myopathy
|
Nemaline Myopathy, Childhood Onset
|
|
|
| Typical Congenital Nemaline Myopathy |
|
Typical Nemaline Myopathy
|
|
|
| Nemaline Myopathy |
|
Rod Myopathy
|
Nemaline Body Disease
|
|
Nemaline Rod Myopathy
|
Myopathies, Nemaline
|
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Nm
|
Nemaline Rod Disease
|
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Rod Body Disease
|
Rod-Body Myopathy
|
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Myopathy, Nemaline
|
Congenital Rod Disease
|
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Nem
|
Nemaline Bodies
|
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Myopathies Nemaline
|
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| Distal Arthrogryposis |
|
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
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Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
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Otto Syndrome
|
Rocher-Sheldon Syndrome
|
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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]
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Arthrogryposis, Distal, Type 5 |
|
Oculomelic Amyoplasia
|
Distal Arthrogryposis Type 5
|
|
Distal Arthrogryposis Type Iib
|
DA5
|
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Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities
|
Daiib
|
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Distal Arthrogryposis Type 2b
|
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
|
|
Distal Arthrogryposis With Ophthalmoplegia
|
Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
|
|
Arthrogryposis, Distal, Type Iib
|
Da2b
|
|
Freeman-Sheldon Syndrome Variant
|
Sheldon-Hall Syndrome
|
|
Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities
|
Arthrogryposis Ophthalmoplegia Retinopathy
|
|
Arthrogryposis, Distal, 5
|
Arthrogryposis, Distal, Type 2b
|
|
|
| Arthrogryposis, Distal, Type 2a |
|
Freeman-Sheldon Syndrome
|
Craniocarpotarsal Dystrophy
|
|
Craniocarpotarsal Dysplasia
|
DA2A
|
|
Whistling Face-Windmill Vane Hand Syndrome
|
Fss
|
|
Distal Arthrogryposis Type 2a
|
Whistling Face Syndrome
|
|
Freeman-Burian Syndrome
|
Arthrogryposis Distal Type 2a
|
|
Distal Arthrogryposis, Type 2a
|
Fbs
|
|
Arthrogryposis, Distal, 2a
|
|
|
| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
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Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
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Club Foot
|
|
|
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Jacobs Syndrome
|
Arthropathy-Camptodactyly Syndrome
|
|
Pericarditis-Arthropathy-Camptodactyly Syndrome
|
Xyy Syndrome
|
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Pac Syndrome
|
Cacp Syndrome
|
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CACP
|
Fibrosing Serositis, Familial
|
|
Camptodactyly-Arthropathy-Pericarditis Syndrome
|
Cap Syndrome
|
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47, Xyy Syndrome
|
47,Xyy Syndrome
|
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Double Y Syndrome
|
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
|
|
Hypertrophic Synovitis, Congenital Familial
|
Congenital Familial Hypertrophic Synovitis
|
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Xyy Karyotype
|
Y Disomy
|
|
Yy Syndrome
|
Familial Fibrosing Serositis
|
|
Disomy Y
|
Double Y
|
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Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome
|
Arthropathy Camptodactyly Syndrome
|
|
Camptodactyly Arthropathy Pericarditis Syndrome
|
Pericarditis Arthropathy Camptodactyly Syndrome
|
|
Jacob'S Syndrome
|
47,Xyy
|
|
Cdags Syndrome
|
|
|
| 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
|
|
|
| Congenital Structural Myopathy |
|
|
| Arthrogryposis, Distal, Type 7 |
|
Hecht Syndrome
|
Trismus-Pseudocamptodactyly Syndrome
|
|
Distal Arthrogryposis Type 7
|
Dutch-Kentucky Syndrome
|
|
DA7
|
Hecht-Beals Syndrome
|
|
Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons
|
Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons
|
|
Arthrogryposis Distal Type 7
|
Trismus Pseudocamptodactyly Syndrome
|
|
Arthrogryposis, Distal, 7
|
|
|
| Arthrogryposis, Distal, Type 5d |
|
Distal Arthrogryposis Type 5d
|
DA5D
|
|
Distal Arthrogryposis Type 5 Without Ophthalmoparesis
|
Distal Arthrogryposis Type 5 Without Ophthalmoplegia
|
|
Arthrogryposis, Distal, 5d
|
|
|
| Myopathy, Distal, 3 |
|
MPD3
|
Distal Muscular Dystrophy 3
|
|
Distal Myopathy Type 3
|
Myopathy, Distal 3
|
|
Distal Myopathy 3
|
Finnish Upper Limb-Onset Distal Myopathy
|
|
|
| Arthrogryposis, Distal, Type 10 |
|
DA10
|
Distal Arthrogryposis Type 10
|
|
Short Achilles Tendon
|
Plantar Flexion Contracture
|
|
Short Tendo Calcaneus
|
Congenital Plantar Contractures
|
|
Tendo Calcaneus, Short
|
|
|
| Nemaline Myopathy 5 |
|
Amish Nemaline Myopathy
|
NEM5
|
|
Anm
|
Nemaline Myopathy, Amish Type
|
|
Nemaline Myopathy 5, Amish Type
|
Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene
|
|
Nemaline Myopathy, Type 5
|
Nemaline Myopathy Amish Type
|
|
Tnnt1-Related Nemaline Myopathy
|
Myopathy, Nemaline, Type 5
|
|
|
| Fissured Tongue |
|
Furrowed Tongue
|
Plicated Tongue
|
|
Tongue, Fissured
|
Congenital Fissure Of Tongue
|
|
Congenital Plicated Tongue
|
Fissure Of Tongue
|
|
Fissure Of Tongue, Congenital
|
Geographic Tongue And Fissured Tongue
|
|
Lingua Plicata
|
Scrotal Tongue
|
|
|
| Arthrogryposis, Distal, Type 2b3 |
|
DA2B3
|
Distal Arthrogryposis Type 2b3
|
|
Arthrogryposis, Distal, 2b3
|
|
|
| Batten-Turner Congenital Myopathy |
|
Congenital Myopathy
|
Batten Turner Congenital Myopathy
|
|
Myopathy Congenital
|
Myopathy, Congenital
|
|
Myotonia Congenita
|
Benign Congenital Myopathy
|
|
|
| Lethal Congenital Contracture Syndrome 4 |
|
LCCS4
|
Contracture Syndrome, Lethal, Congenital, Type 4
|
|
|
| Hyaline Body Myopathy |
|
Myosin Storage Myopathy
|
Autosomal Dominant Hyaline Body Myopathy
|
|
Myopathy, Myosin Storage
|
|
|
| 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
|
|
|
| Spondylocarpotarsal Synostosis Syndrome |
|
SCT
|
Spondylocarpotarsal Syndrome
|
|
Vertebral Fusion With Carpal Coalition
|
Congenital Scoliosis With Unilateral Unsegmented Bar
|
|
Congenital Synspondylism
|
Spondylocarpotarsal Synostosis
|
|
Synspondylism, Congenital
|
Scoliosis, Congenital, With Unilateral Unsegmented Bar
|
|
Scoliosis, Congenital With Unilateral Unsegmented Bar
|
Synspondylism Congenital
|
|
Sct Syndrome
|
Synspondylism
|
|
|
| Myopathy, Distal, 1 |
|
Laing Distal Myopathy
|
Laing Early-Onset Distal Myopathy
|
|
MPD1
|
Distal Myopathy 1
|
|
Myopathy, Distal, Early-Onset, Autosomal Dominant
|
Distal Myopathy Type 1
|
|
Gowers Disease
|
Myopathy, Late Distal Hereditary
|
|
Myopathy Distal, Type 1
|
Myopathy Distal Early-Onset Autosomal Dominant
|
|
Myopathy Late Distal Hereditary
|
Myopathy, Distal, Type 1
|
|
Welander Distal Myopathy
|
|
|
| Centronuclear Myopathy |
|
Myopathy, Centronuclear
|
Myotubular Myopathy
|
|
Cnm
|
Myopathy, Myotubular
|
|
Congenital Structural Myopathy
|
|
|
| Breast Cancer |
|
Breast Carcinoma
|
Male Breast Cancer
|
|
Breast Cancer, Familial
|
Malignant Neoplasm Of Breast
|
|
Breast Cancer, Susceptibility To
|
Breast Cancer, Early-Onset
|
|
Malignant Tumor Of Breast
|
Carcinoma Of Male Breast
|
|
Breast Cancer, Invasive Ductal
|
Breast Cancer, Protection Against
|
|
Breast Cancer, Somatic
|
Breast Cancer, Male
|
|
Breast Cancer, Lobular, Somatic
|
Breast Tumor
|
|
Mammary Cancer
|
Mammary Tumor
|
|
Malignant Neoplasm Of Male Breast
|
Mammary Carcinoma
|
|
Male Breast Carcinoma
|
Familial Cancer Of Breast
|
|
Invasive Ductal Breast Carcinoma
|
Breast Cancer Susceptibility
|
|
Breast Cancer, Male, Susceptibility To
|
Breast Cancer, Early-Onset, Susceptibility To
|
|
Malignant Tumor Of The Breast
|
Mammary Neoplasm
|
|
Primary Breast Cancer
|
Neoplasm Of Male Breast
|
|
Carcinoma Of Breast
|
Breast Cancer In Men
|
|
Familial Breast Cancer
|
Cancer Of Breast
|
|
BC
|
Breast Cancer Familial
|
|
Breast Cancer Familial Male
|
Breast Cancer, Familial Male
|
|
Breast Male Carcinoma
|
Breast Neoplasms
|
|
Breast Neoplasms, Male
|
Mammary Tumors
|
|
Mammary Carcinomas
|
Cancer, Breast
|
|
Cancer, Breast, Susceptibility
|
Invasive Breast Ductal Carcinoma
|
|
Breast Neoplasm
|
Susceptibility To Breast Cancer
|
|
Mammary Neoplasms
|
Animal Mammary Neoplasms
|
|
Primary Malignant Neoplasm Of Breast
|
Infiltrating Ductal Carcinoma Of Breast
|
|
Infiltrating Duct Carcinoma Of Unspecified Site
|
Infiltrating Ductular Carcinoma Of Unspecified Site
|
|
Invasive Breast Carcinoma Of No Special Type
|
Microinvasive Carcinoma Of Breast
|
|
Carcinoma With Apocrine Differentiation
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Hypertrophic Cardiomyopathy |
|
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
