| 疾病名称 |
别名 |
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| Myopathy, Congenital, With Tremor |
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| Arthrogryposis, Distal, Type 1b |
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DA1B
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Distal Arthrogryposis Type 1b
|
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Arthrogryposis, Distal, 1b
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| Lethal Congenital Contracture Syndrome 4 |
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LCCS4
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Contracture Syndrome, Lethal, Congenital, Type 4
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| Mybpc1-Related Autosomal Recessive Non-Lethal Arthrogryposis Multiplex Congenita Syndrome |
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Mybpc1-Related Autosomal Recessive Non-Lethal Amc Syndrome
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| Lethal Congenital Contracture Syndrome 3 |
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LCCS3
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Lethal Congenital Contractural Syndrome 3
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Multiple Contracture Syndrome, Israeli Bedouin Type B
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Israeli Bedouin Type B Multiple Contracture Syndrome
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Lethal Congenital Contracture Syndrome Type 3
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Multiple Contractural Syndrome Israeli Bedouin Type B
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Contracture Syndrome, Lethal, Congenital, Type 3
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| Arthrogryposis, Distal, Type 1a |
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Distal Arthrogryposis Type 1
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Digitotalar Dysmorphism
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DA1A
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Da1
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Amcd1
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Arthrogryposis, Distal, Type 2b4
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Distal Arthrogryposis Type 1a
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Arthrogryposis, Distal, Type 1
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Arthrogryposis Multiplex Congenita Distal Type 1
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Arthrogryposis Multiplex Congenita, Distal Type 1
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Arthrogryposis Multiplex Congenita, Distal, Type I
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Distal Arthrogryposis Type 1b
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Arthrogryposis, Distal, 1a
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Amc
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Arthrogryposis Multiplex Congenita
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Arthrogryposis, Distal, 2b4
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DA2B4
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Arthrogryposis Multiplex Congenita, Distal, Type 1
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Arthrogryposis
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| Distal Arthrogryposis |
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Arthrogryposis Multiplex Congenita
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Arthrogryposis
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Congenital Multiple Arthrogryposis
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Congenital Arthromyodysplasia
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Fibrous Ankylosis Of Multiple Joints
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Guerin-Stern Syndrome
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Guérin-Stern Syndrome
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Myodystrophia Fetalis Deformans
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Otto Syndrome
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Rocher-Sheldon Syndrome
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Rossi Syndrome
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Amc
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Multiple Congenital Arthrogryposis
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Arthrogryposis Syndrome
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Arthrogryposis, Distal
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Distal Arthrogryposis Syndrome
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Freeman-Sheldon Syndrome
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Arthrogryposis, Distal, Type 2b
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Congenital Multiplex Arthrogryposis
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Amyoplasia Congenita
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Congenital Amyoplasia
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Amc - [Arthrogryposis Multiplex Congenita]
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| Lethal Congenital Contracture Syndrome |
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Lccs
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Lethal Congenital Contracture Syndrome 1
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| Arthrogryposis, Distal, Type 2a |
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Freeman-Sheldon Syndrome
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Craniocarpotarsal Dystrophy
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Craniocarpotarsal Dysplasia
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DA2A
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Whistling Face-Windmill Vane Hand Syndrome
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Fss
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Distal Arthrogryposis Type 2a
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Whistling Face Syndrome
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Freeman-Burian Syndrome
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Arthrogryposis Distal Type 2a
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Distal Arthrogryposis, Type 2a
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Fbs
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Arthrogryposis, Distal, 2a
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| Arthrogryposis, Distal, Type 5d |
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Distal Arthrogryposis Type 5d
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DA5D
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Distal Arthrogryposis Type 5 Without Ophthalmoparesis
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Distal Arthrogryposis Type 5 Without Ophthalmoplegia
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Arthrogryposis, Distal, 5d
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| Arthrogryposis, Distal, Type 5 |
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Oculomelic Amyoplasia
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Distal Arthrogryposis Type 5
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Distal Arthrogryposis Type Iib
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DA5
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Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities
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Daiib
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Distal Arthrogryposis Type 2b
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Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
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Distal Arthrogryposis With Ophthalmoplegia
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Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
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Arthrogryposis, Distal, Type Iib
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Da2b
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Freeman-Sheldon Syndrome Variant
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Sheldon-Hall Syndrome
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Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities
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Arthrogryposis Ophthalmoplegia Retinopathy
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Arthrogryposis, Distal, 5
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Arthrogryposis, Distal, Type 2b
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| Tremor |
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Medicament-Induced Tremor
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Medication-Induced Postural Tremor
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| Arthrogryposis, Distal, Type 10 |
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DA10
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Distal Arthrogryposis Type 10
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Short Achilles Tendon
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Plantar Flexion Contracture
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Short Tendo Calcaneus
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Congenital Plantar Contractures
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Tendo Calcaneus, Short
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| Lethal Congenital Contracture Syndrome 2 |
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LCCS2
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Lethal Congenital Contractural Syndrome 2
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Multiple Contracture Syndrome, Israeli-Bedouin Type
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Multiple Contracture Syndrome, Israeli Bedouin Type A
|
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Multiple Contracture Syndrome, Israeli Bedouin Type
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Lethal Congenital Contracture Syndrome Type 2
|
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Israeli Bedouin Multiple Contracture Syndrome Type A
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Contracture Syndrome, Lethal, Congenital, Type 2
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| Clubfoot |
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Congenital Talipes Equinovarus
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Congenital Clubfoot
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Congenital Equinovarus
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Equinovarus Deformity Of Foot
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Club Foot
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| Myopathy, Myofibrillar, 8 |
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Myofibrillar Myopathy 8
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MFM8
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Myopathy, Myofibrillar, Type 8
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| Cardiomyopathy, Familial Hypertrophic, 4 |
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Hypertrophic Cardiomyopathy 4
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CMH4
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Cardiomyopathy, Hypertrophic, 4
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Cardiomyopathy, Familial Hypertrophic 4
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Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To
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Cardiomyopathy, Hypertrophic, Familial, Type 4
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| Myopathy, Myofibrillar, 7 |
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Myofibrillar Myopathy 7
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MFM7
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Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome
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Myopathy, Myofibrillar, Type 7
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| Myopathy, Centronuclear, 4 |
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CNM4
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Centronuclear Myopathy 4
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Congenital Myopathy With Internal Nuclei And Atypical Cores
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Centronuclear Myopathy Type 4
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Myopathy, Centronuclear, Type 4
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| Dilated Cardiomyopathy |
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Familial Dilated Cardiomyopathy
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Primary Dilated Cardiomyopathy
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Idiopathic Dilated Cardiomyopathy
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Congestive Cardiomyopathy
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Idiopathic Dilation Cardiomyopathy
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Primary Familial Dilated Cardiomyopathy
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Cardiomyopathy, Dilated
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DCM
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Cardiomyopathy, Familial Dilated
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Dilated Cardiomyopathy, Familial
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Hypokinetic Dilated Cardiomyopathy, Familial
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Familial Idiopathic Cardiomyopathy
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Fdc
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Cardiomyopathy, Familial Idiopathic
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Idiopathic Cardiomegaly
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Dilated Congestive Cardiomyopathy
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Chronic Dilated Cardiomyopathy
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Ccm - [Congestive Cardiomyopathy]
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Cocm - [Congestive Cardiomyopathy]
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Dcm - [Dilated Cardiomyopathy]
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Dilated-Hypokinetic Cardiomyopathy
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Congestive Idiopathic Cardiomyopathy
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Primary Idiopathic Dilated Cardiomyopathy
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| Myopathy, Centronuclear, 5 |
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CNM5
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Centronuclear Myopathy 5
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Myopathy, Centronuclear, Type 5
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| Multiple Pterygium Syndrome, Escobar Variant |
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Multiple Pterygium Syndrome
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Pterygium
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Escobar Syndrome
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EVMPS
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Pterygium Syndrome
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Autosomal Recessive Multiple Pterygium Syndrome
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Pterygium Colli Syndrome
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Pterygium Universale
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Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
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Escobar Variant Multiple Pterygium Syndrome
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Multiple Pterygium Syndrome, Nonlethal Type
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Surfer'S Eye
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Multiple Pterygium Syndrome Escobar Type
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Multiple Pterygium Syndrome Nonlethal Type
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Familial Pterygium Syndrome
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Pterygium Colli
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Multiple Pterygium Syndrome, Non-Lethal Type
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Nonlethal Type Multiple Pterygium Syndrome
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Pterygium Syndrome, Multiple, Escobar Type
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Pterygium Of Eye
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Web Eye
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| Myasthenic Syndrome, Congenital, 4b, Fast-Channel |
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Congenital Myasthenic Syndrome 4b
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CMS4B
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Congenital Myasthenic Syndrome 4b Fast-Channel
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Myasthenic Syndrome, Congenital, Type 4b, Fast-Channel
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| Hypertrophic Cardiomyopathy |
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Hypertrophic Obstructive Cardiomyopathy
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Cardiomyopathy, Hypertrophic
|
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Cardiomyopathy Hypertrophic Obstructive
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Cardiomyopathy, Hypertrophic, Familial
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Idiopathic Myocardial Hypertrophy
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Idiopathic Hypertrophic Cardiomyopathy
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Obstructive Idiopathic Hypertrophic Cardiomyopathy
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Obstructive Cardiomyopathy
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Idiopathic Hypertrophic Subaortic Stenosis
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Muscular Subaortic Stenosis
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Hypertrophic Obstructive Subaortic Stenosis
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| Myopathy |
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Muscular Diseases
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Myopathies
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| Myasthenic Syndrome, Congenital, 14 |
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Congenital Myasthenic Syndrome 14
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CMS14
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Cmsta3
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Myasthenic Syndrome, Congenital, With Tubular Aggregates 3
|
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Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates
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Congenital Myasthenic Syndrome 14, With Tubular Aggregates
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Congenital Myasthenic Syndrome With Tubular Aggregates 3
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Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3
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Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates
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| Brody Disease |
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Brody Myopathy
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BROD
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Sarcoplasmic Reticulum -Ca2+Atpase Deficiency
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Myopathy, Brody
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| Primary Optic Atrophy |
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| Atrophic Muscular Disease |
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Muscular Disorders, Atrophic
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| Atrial Standstill 1 |
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ATRST1
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Atrial Cardiomyopathy With Heart Block
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Cardiomyopathy, Familial, With Conduction Disturbance
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Atrial Standstill, Digenic
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Familial Cardiomyopathy With Conduction Disturbance
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Standstill, Atrial, Type 1
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Heart Block
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Cardiomyopathies
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Idiopathic Cardiomyopathy
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Idiopathic Cardiopathy
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Primary Myocardial Disease
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Primary Cardiomyopathy
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Myocardiopathy
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Myocardosis
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Primary Idiopathic Myocardial Disease
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| Cardiomyopathy, Familial Hypertrophic, 1 |
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Asymmetric Septal Hypertrophy
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Familial Hypertrophic Cardiomyopathy
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Hypertrophic Cardiomyopathy 1
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CMH1
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Hypertrophic Cardiomyopathy 19
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CMH
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Ventricular Hypertrophy, Hereditary
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Ash
|
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Hypertrophic Subaortic Stenosis, Idiopathic
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Cardiomyopathy, Familial Hypertrophic
|
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Cardiomyopathy, Hypertrophic, 1, Digenic
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Cardiomyopathy, Familial Hypertrophic 1
|
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Hcm
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Hereditary Ventricular Hypertrophy
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Idiopathic Hypertrophic Subaortic Stenosis
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Hypertrophic Cardiomyopathy
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Cardiomyopathy, Hypertrophic, Familial
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Cardiomyopathy, Hypertrophic, 1
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Familial Asymmetric Septal Hypertrophy
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Heritable Hypertrophic Cardiomyopathy
|
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Fhc
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Cardiomyopathy, Hypertrophic, Familial, Type 1
|
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| Lethal Congenital Contracture Syndrome 1 |
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LCCS1
|
Multiple Contracture Syndrome, Finnish Type
|
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Lccs
|
Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures
|
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Lethal Congenital Contracture Syndrome Type 1
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Herva Disease
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Multiple Contracture Syndrome Finnish Type
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Contracture Syndrome, Lethal, Congenital, Type 1
|
|
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| Cerebral Creatine Deficiency Syndrome 1 |
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Creatine Transporter Deficiency
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Creatine Transporter Defect
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Slc6a8 Deficiency
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X-Linked Creatine Deficiency Syndrome
|
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CCDS1
|
Creatine Deficiency Syndrome, X-Linked
|
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X-Linked Creatine Deficiency
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Creatine Deficiency, X-Linked
|
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X-Linked Creatine Transporter Deficiency
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Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
|
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Mental Retardation, X-Linked, With Creatine Transport Deficiency
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Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
|
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Intellectual Disability, X-Linked, With Creatine Transport Deficiency
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Slc6a8-Related Creatine Transporter Deficiency
|
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Deficiency, Cerebral Creatine, Syndrome, Type 1
|
|
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| Fissured Tongue |
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Furrowed Tongue
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Plicated Tongue
|
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Tongue, Fissured
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Congenital Fissure Of Tongue
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Congenital Plicated Tongue
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Fissure Of Tongue
|
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Fissure Of Tongue, Congenital
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Geographic Tongue And Fissured Tongue
|
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Lingua Plicata
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Scrotal Tongue
|
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| Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency |
|
Congenital Myasthenic Syndrome 4c
|
CMS4C
|
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Cms Id
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Cms1d
|
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Congenital Myasthenic Syndrome Type Id
|
Fim1
|
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Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
|
Myasthenic Syndrome, Congenital, Type Id
|
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Cms1d, Formerly
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Cms Id, Formerly
|
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Myasthenia, Familial Infantile, 1, Formerly
|
Fim1, Formerly
|
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Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency
|
Familial Infantile Myasthenia 1
|
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Cms1e
|
Cms-Achrd
|
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Cms Ie
|
Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
|
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Congenital Myasthenic Syndrome Type 1d
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Congenital Myasthenic Syndrome Type 1e
|
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Congenital Myasthenic Syndrome Type Ie
|
Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
|
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Myasthenia, Familial Infantile, 1
|
Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
|
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Myasthenic Syndrome, Congenital, Ie
|
|
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| Spondylocarpotarsal Synostosis Syndrome |
|
SCT
|
Spondylocarpotarsal Syndrome
|
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Vertebral Fusion With Carpal Coalition
|
Congenital Scoliosis With Unilateral Unsegmented Bar
|
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Congenital Synspondylism
|
Spondylocarpotarsal Synostosis
|
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Synspondylism, Congenital
|
Scoliosis, Congenital, With Unilateral Unsegmented Bar
|
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Scoliosis, Congenital With Unilateral Unsegmented Bar
|
Synspondylism Congenital
|
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Sct Syndrome
|
Synspondylism
|
|
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| Arthrogryposis, Distal, Type 7 |
|
Hecht Syndrome
|
Trismus-Pseudocamptodactyly Syndrome
|
|
Distal Arthrogryposis Type 7
|
Dutch-Kentucky Syndrome
|
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DA7
|
Hecht-Beals Syndrome
|
|
Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons
|
Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons
|
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Arthrogryposis Distal Type 7
|
Trismus Pseudocamptodactyly Syndrome
|
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Arthrogryposis, Distal, 7
|
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| Scoliosis |
|
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| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
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Congenital Muscular Dystrophy
|
Cmd
|
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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
|
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|
