| 疾病名称 |
别名 |
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 6 |
|
Muscular Dystrophy-Dystroglycanopathy Type B6
|
MDDGB6
|
|
Mdc1d
|
Muscular Dystrophy, Congenital, Type 1d
|
|
Congenital Muscular Dystrophy Type 1d
|
Dystrophy, Muscular, Dystroglycanopathy , Type B6
|
|
Muscular Dystrophy, Congenital, Large-Related
|
Congenital Muscular Dystrophy Large-Related
|
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Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6
|
Muscular Dystrophy Large-Related
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 6 |
|
MDDGA6
|
Muscular Dystrophy-Dystroglycanopathy , Type A6
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A6
|
|
Muscle-Eye-Brain Disease Large-Related
|
Walker-Warburg Syndrome Large-Related
|
|
Dystrophy, Muscular, Dystroglycanopathy , Type A6
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A6
|
Mddga6
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Large-Related
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A6
|
|
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| Congenital Muscular Dystrophy With Intellectual Disability |
|
Cmd With Intellectual Disability
|
Cmd-Mr
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 1 |
|
Hard Syndrome
|
MDDGA1
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Muscular Dystrophy-Dystroglycanopathy , Type A1
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
|
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A1
|
|
Cerebroocular Dysgenesis
|
Cod
|
|
Hard +/- E Syndrome
|
Hydrocephalus-Agyria-Retinal Dysplasia
|
|
Meb
|
Muscle-Eye-Brain Disease
|
|
Muscle-Eye-Brain Disease Pomt1-Related
|
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 1a
|
|
Walker-Warburg Syndrome
|
Walker-Warburg Syndrome Pomt1-Related
|
|
Warburg Syndrome
|
Wws
|
|
Dystrophy, Muscular, Dystroglycanopathy , Type A1
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Muscle Eye Brain Disease
|
|
|
| Cone-Rod Dystrophy 2 |
|
Cone-Rod Dystrophy
|
CORD2
|
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
|
Cord
|
Crd
|
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
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Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
|
Progressive Cone-Rod Dystrophy
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Muscle Eye Brain Disease |
|
Muscle-Eye-Brain Disease
|
Muscle-Eye-Brain Syndrome
|
|
Meb
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
|
|
Meb Syndrome
|
Santavuori Congenital Muscular Dystrophy
|
|
|
| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
|
Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
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Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
|
Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
|
Fukuyama Congenital Muscular Dystrophy
|
Fcmd
|
|
MDDGA4
|
Fukuyama Type Congenital Muscular Dystrophy
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related
|
Cerebromuscular Dystrophy, Fukuyama Type
|
|
Fukuyama Cmd
|
Fukuyama Muscular Dystrophy
|
|
Fukuyama Syndrome
|
Muscular Dystrophy, Congenital Progressive, With Mental Retardation
|
|
Muscular Dystrophy, Congenital, Fukuyama Type
|
Muscular Dystrophy, Congenital, With Central Nervous System Involvement
|
|
Polymicrogyria With Muscular Dystrophy
|
Congenital Muscular Dystrophy, Fukuyama Type
|
|
Fktn-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
|
|
Cerebromuscular Dystrophy Fukuyama Type
|
Congenital Muscular Dystrophy Fukuyama Type
|
|
Micropolygyria With Muscular Dystrophy
|
Muscle-Eye-Brain Disease Fktn-Related
|
|
Walker-Warburg Syndrome Fktn-Related
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12
|
Mddga12
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related
|
|
|
| Ablepharon-Macrostomia Syndrome |
|
Ablepharon Macrostomia Syndrome
|
AMS
|
|
Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies
|
Eye Abnormalities
|
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
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Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Cobblestone Lissencephaly |
|
Lissencephaly Type 2
|
Lissencephaly, Cobblestone
|
|
|
| Muscular Dystrophy-Dystroglycanopathy |
|
Cmd Due To Dystroglycanopathy
|
Congenital Muscular Dystrophy Due To Dystroglycanopathy
|
|
Mddg
|
Dystrophy, Muscular, Dystroglycanopathy
|
|
|
| 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
|
|
|
| Substernal Goiter |
|
Retrosternal Thyroid Goiter
|
Retrosternal Thyroid Goitre
|
|
Substernal Goitre
|
Goiter, Substernal
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
|
MDDGB1
|
Muscular Dystrophy-Dystroglycanopathy , Type B1
|
|
Muscular Dystrophy, Congenital, Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy Type B1
|
|
Cmd Due To Dystroglycanopathy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
|
|
Muscular Dystrophy Congenital Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy
|
|
Dystrophy, Muscular, Dystroglycanopathy , Type B1
|
|
|
| Cardiomyopathy, Dilated, 1kk |
|
Cardiomyopathy, Familial Restrictive, 4
|
Dilated Cardiomyopathy 1kk
|
|
CMD1KK
|
Cardiomyopathy, Hypertrophic, 22
|
|
Cardiomyopathy, Dilated 1kk
|
Cardiomyopathy, Familial Hypertrophic 22
|
|
CMH22
|
Cardiomyopathy, Familial Restrictive 4
|
|
RCM4
|
Familial Hypertrophic Cardiomyopathy 22
|
|
Cardiomyopathy, Dilated, Type 1kk
|
Cardiomyopathy, Familial Hypertrophic, 22
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic Cardiomyopathy 9
|
CMH9
|
|
Cardiomyopathy, Familial Hypertrophic 9
|
Cardiomyopathy, Hypertrophic, Familial, Type 9
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies
|
Mddga
|
|
Klissencephaly Type 2 With Muscular And Ocular Involvement
|
Lissencephaly Type 2 With Muscular And Ocular Involvement
|
|
|
| Brown-Vialetto-Van Laere Syndrome 2 |
|
BVVLS2
|
Rfvt3-Related Riboflavin Transporter Deficiency
|
|
Rtd3
|
Riboflavin Transporter Deficiency 3
|
|
Brown-Vialetto-Van Laere Syndrome, Type 2
|
|
|
| Lassa Fever |
|
Lf
|
Lassa Hemorrhagic Fever
|
|
Lf - [Lassa Fever]
|
|
|
