| 疾病名称 |
别名 |
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
Multiple Pterygium Syndrome, Autosomal Dominant
|
CPSFS1A
|
|
Autosomal Dominant
|
Contractures, Pterygia, And Spondylocarpostarsal Fusion Syndrome 1a
|
|
Autosomal Dominant Multiple Pterygium Syndrome
|
Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1a
|
|
Cpskf1a
|
Pterygium Syndrome, Multiple
|
|
Arthrogryposis, Distal, Type 8, Formerly
|
Da8, Formerly
|
|
Distal Arthrogryposis Type 8
|
Arthrogryposis, Distal, Type 8
|
|
Da8
|
Pterygium Syndrome, Multiple, Autosomal Dominant
|
|
|
| Arthrogryposis, Distal, Type 2a |
|
Freeman-Sheldon Syndrome
|
Craniocarpotarsal Dystrophy
|
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Craniocarpotarsal Dysplasia
|
DA2A
|
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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
|
|
|
| Arthrogryposis, Distal, Type 2b3 |
|
DA2B3
|
Distal Arthrogryposis Type 2b3
|
|
Arthrogryposis, Distal, 2b3
|
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1b |
|
Contractures, Pterygia, And Variable Skeletal Fusions Syndrome 1b
|
CPSFS1B
|
|
Cpskf1b
|
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome, Type 1b
|
|
|
| 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
|
|
|
| Arthrogryposis, Distal, Type 2b1 |
|
Sheldon-Hall Syndrome
|
Freeman-Sheldon Syndrome Variant
|
|
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
|
|
|
| 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
|
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Multiple Pterygium Syndrome Escobar Type
|
Multiple Pterygium Syndrome Nonlethal Type
|
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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
|
|
|
| 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
|
|
|
| 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
|
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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]
|
|
|
| Arthrogryposis, Distal, Type 5 |
|
Oculomelic Amyoplasia
|
Distal Arthrogryposis Type 5
|
|
Distal Arthrogryposis Type Iib
|
DA5
|
|
Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities
|
Daiib
|
|
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 10 |
|
DA10
|
Distal Arthrogryposis Type 10
|
|
Short Achilles Tendon
|
Plantar Flexion Contracture
|
|
Short Tendo Calcaneus
|
Congenital Plantar Contractures
|
|
Tendo Calcaneus, Short
|
|
|
| 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
|
|
|
| Clubfoot |
|
Congenital Talipes Equinovarus
|
Congenital Clubfoot
|
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Congenital Equinovarus
|
Equinovarus Deformity Of Foot
|
|
Club Foot
|
|
|
| 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
|
|
|
| Synostosis |
|
|
| Arthrogryposis, Distal, Type 5d |
|
Distal Arthrogryposis Type 5d
|
DA5D
|
|
Distal Arthrogryposis Type 5 Without Ophthalmoparesis
|
Distal Arthrogryposis Type 5 Without Ophthalmoplegia
|
|
Arthrogryposis, Distal, 5d
|
|
|
| Hyaline Body Myopathy |
|
Myosin Storage Myopathy
|
Autosomal Dominant Hyaline Body Myopathy
|
|
Myopathy, Myosin Storage
|
|
|
| Scoliosis |
|
|
| Postaxial Acrofacial Dysostosis |
|
Miller Syndrome
|
POADS
|
|
Genee-Wiedemann Syndrome
|
Postaxial Acrodysostosis
|
|
Genee-Wiedemann Acrofacial Dysostosis
|
Acrofacial Dysostosis, Genee-Wiedmann Type
|
|
Mandibulfacial Dysostosis With Postaxial Limb Anomalies
|
Gwafd
|
|
Poads Syndrome
|
Postaxial Acrofacial Dysostosis Syndrome
|
|
Wildervanck-Smith Syndrome
|
Acrofacial Dysostosis, Genee-Wiedemann Type
|
|
Mandibulofacial Dysostosis With Postaxial Limb Anomalies
|
Genée-Wiedemann Syndrome
|
|
Chromosome 11p Deletion Syndrome
|
|
|
| Lethal Congenital Contracture Syndrome 4 |
|
LCCS4
|
Contracture Syndrome, Lethal, Congenital, Type 4
|
|
|
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Facioscapulohumeral Muscular Dystrophy
|
Fshd
|
|
Landouzy-Dejerine Muscular Dystrophy
|
Muscular Dystrophy, Facioscapulohumeral
|
|
FSHD1
|
Fshd1a
|
|
Muscular Dystrophy, Facioscapulohumeral, Type 1a
|
Facioscapulohumeral Muscular Dystrophy Type 1a
|
|
Fsh Muscular Dystrophy
|
Facioscapulohumeral Muscular Dystrophy 1a
|
|
Facioscapulohumeral Atrophy
|
Facioscapulohumeral Myopathy
|
|
Muscular Dystrophy, Facioscapulohumeral, Type 1
|
Facioscapulohumeral Muscular Dystrophy Type 1
|
|
Landouzy Dejerine Muscular Dystrophy
|
Muscular Dystrophy, Landouzy-Dejerine
|
|
Fshmd1a
|
Facio-Scapulo-Humeral Dystrophy
|
|
Facioscapulohumeral Type Progressive Muscular Dystrophy
|
Facioscapuloperoneal Muscular Dystrophy
|
|
Facioscapulohumeral Dystrophy
|
Fsh Dystrophy
|
|
Landouzy-Dejerine Dystrophy
|
Landouzy-Dejerine Myopathy
|
|
Fmd
|
Facioscapulohumeral Muscular Dystrophy-1a
|
|
Muscular Dystrophy Facioscapulohumeral
|
Dystrophy, Muscular, Facioscapulohumeral
|
|
Dystrophy, Muscular, Facioscapulohumeral, Type 1
|
Landouzy-Dejerine Disease
|
|
Landouzy-Déjerine Atrophy
|
Facioscapulohumeral Muscle Dystrophy
|
|
Fmd - [Facioscapulohumeral Muscular Dystrophy]
|
Fsh - [Facioscapulohumeral Muscular Dystrophy]
|
|
Fshd - [Facioscapulohumeral Muscular Dystrophy]
|
Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
|
|
Landouzy-Déjérine Muscular Dystrophy
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Muscle Tissue Disease |
|
|
| Muscular Disease |
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
Ullrich Congenital Muscular Dystrophy
|
Ullrich Disease
|
|
Ucmd
|
Ullrich Scleroatonic Muscular Dystrophy
|
|
Scleroatonic Muscular Dystrophy
|
UCMD1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
|
Lgmdr22
|
|
Muscular Dystrophy, Scleroatonic
|
Late Onset Scleroatonic Familial Myopathy
|
|
Congenital Muscular Dystrophy, Ullrich Type
|
|
|
| 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
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| 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
|
|
|
