| 疾病名称 |
别名 |
|
| 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
|
|
|
| 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]
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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 5d |
|
Distal Arthrogryposis Type 5d
|
DA5D
|
|
Distal Arthrogryposis Type 5 Without Ophthalmoparesis
|
Distal Arthrogryposis Type 5 Without Ophthalmoplegia
|
|
Arthrogryposis, Distal, 5d
|
|
|
| Arthrogryposis, Distal, Type 2b3 |
|
DA2B3
|
Distal Arthrogryposis Type 2b3
|
|
Arthrogryposis, Distal, 2b3
|
|
|
| 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
|
|
|
| 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
|
|
|
| Lethal Congenital Contracture Syndrome 4 |
|
LCCS4
|
Contracture Syndrome, Lethal, Congenital, Type 4
|
|
|
| Myopathy, Congenital, Compton-North |
|
Compton-North Congenital Myopathy
|
MYPCN
|
|
Congenital Lethal Myopathy, Compton-North Type
|
|
|
| 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
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Orofacial Cleft 8 |
|
OFC8
|
Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 8
|
|
Non-Syndromic Cleft Lip/Palate 8
|
Non-Syndromic Cleft Lip With Or Without Cleft Palate 8
|
|
Orofacial Cleft, Type 8
|
|
|
| Cardiomyopathy, Dilated, 1m |
|
Dilated Cardiomyopathy 1m
|
CMD1M
|
|
Cardiomyopathy, Dilated 1m
|
Cardiomyopathy, Dilated, Type 1m
|
|
|
| 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
|
|
|
| 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
|
|
|
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Jacobs Syndrome
|
Arthropathy-Camptodactyly Syndrome
|
|
Pericarditis-Arthropathy-Camptodactyly Syndrome
|
Xyy Syndrome
|
|
Pac Syndrome
|
Cacp Syndrome
|
|
CACP
|
Fibrosing Serositis, Familial
|
|
Camptodactyly-Arthropathy-Pericarditis Syndrome
|
Cap Syndrome
|
|
47, Xyy Syndrome
|
47,Xyy Syndrome
|
|
Double Y Syndrome
|
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
|
|
Hypertrophic Synovitis, Congenital Familial
|
Congenital Familial Hypertrophic Synovitis
|
|
Xyy Karyotype
|
Y Disomy
|
|
Yy Syndrome
|
Familial Fibrosing Serositis
|
|
Disomy Y
|
Double Y
|
|
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome
|
Arthropathy Camptodactyly Syndrome
|
|
Camptodactyly Arthropathy Pericarditis Syndrome
|
Pericarditis Arthropathy Camptodactyly Syndrome
|
|
Jacob'S Syndrome
|
47,Xyy
|
|
Cdags Syndrome
|
|
|
| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
|
Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
|
Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
|
Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
| 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
|
|
|
| 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
|
|
|
