| 疾病名称 |
别名 |
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 8 |
|
MDDGA8
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Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Gtdc2-Related
|
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Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A8
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Muscle-Eye-Brain Disease Gtdc2-Related
|
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Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies, Type A, 8
|
Walker-Warburg Syndrome Gtdc2-Related
|
|
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| Muscular Dystrophy-Dystroglycanopathy , Type C, 8 |
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Lgmdr24
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt2-Related
|
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Muscular Dystrophy-Dystroglycanopathy Type C, 8
|
MDDGC8
|
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Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 24
|
Muscular Dystrophy-Dystroglycanopathy Type C8
|
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Autosomal Recessive Limb-Girdle Muscular Dystrophy 24
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Mddgc2
|
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Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C8
|
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| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
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Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
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Chemke Syndrome
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Hydrocephalus, Agyria And Retinal Dysplasia
|
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Cerebroocular Dysgenesis
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Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
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Hard +/- E Syndrome
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Pagon Syndrome
|
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Warburg Syndrome
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Hydrocephalus, Agyria, And Retinal Dysplasia
|
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Mddga
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Muscular Dystrophy-Dystroglycanopathy , Type A
|
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Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
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Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
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Wws
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Dystrophy, Muscular, Dystroglycanopathy, Type A
|
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| Muscular Disease |
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| Exostosis |
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Osteophyte
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Exostoses
|
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Orbital Exostosis
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Exostosis Of Orbit
|
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Bone Spur
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Bony Outgrowth
|
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Swimmer'S Exostosis
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Osteophytes
|
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External Exotoses
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Cartilaginous Exostosis
|
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| Limb-Girdle Muscular Dystrophy |
|
Lgmd
|
Limb Girdle Muscular Dystrophy
|
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Muscular Dystrophies, Limb-Girdle
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Erb'S Muscular Dystrophy
|
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Leyden-Mbius Muscular Dystrophy
|
Limb-Girdle Syndrome
|
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Myopathic Limb-Girdle Syndrome
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Limb Girdle
|
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Muscular Dystrophy Limb-Girdle
|
Dystrophy, Muscular, Limb-Girdle
|
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Lgmd - [Limb-Girdle Muscular Dystrophy]
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Limb Girdle Muscle Dystrophy
|
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Limb-Girdle Myopathy
|
|
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| Muscle Eye Brain Disease |
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Muscle-Eye-Brain Disease
|
Muscle-Eye-Brain Syndrome
|
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Meb
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Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
|
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Meb Syndrome
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Santavuori Congenital Muscular Dystrophy
|
|
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| Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
|
Mdc1c
|
Muscular Dystrophy-Dystroglycanopathy Type B5
|
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MDDGB5
|
Muscular Dystrophy, Congenital, 1c
|
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Muscular Dystrophy, Congenital, Fkrp-Related
|
Congenital Muscular Dystrophy 1c
|
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Fkrp-Related Congenital Muscular Dystrophy
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Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5
|
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Muscular Dystrophy Congenital Type 1c
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Muscular Dystrophy Fkrp-Related
|
|
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| Hereditary Multiple Exostoses |
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Multiple Congenital Exostosis
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Hereditary Multiple Exostoses 1
|
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Hereditary Multiple Exostoses 2
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Hereditary Multiple Exostoses 3
|
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Multiple Exostosis Syndromes
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Multiple Ostechondromas
|
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Osteochondromatosis Syndrome
|
Exostoses Multiple Hereditary
|
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Exostoses, Multiple Hereditary
|
|
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| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
Lgmd2i
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
|
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MDDGC5
|
Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
|
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Limb-Girdle Muscular Dystrophy Type 2i
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
|
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Lgmdr9
|
Muscular Dystrophy, Limb-Girdle, Type 2i
|
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Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related
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Fkrp-Related Limb-Girdle Muscular Dystrophy R9
|
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Fkrp-Related Lgmd R9
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Lgmd Due To Fkrp Deficiency
|
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Lgmd Type 2i
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Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
|
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Muscular Dystrophy Limb-Girdle Type 2i
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Muscular Dystrophy-Dystroglycanopathy Type C 5
|
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Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5
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Dystrophy, Muscular, Limb-Girdle, Type 2i
|
|
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| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
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Fukuyama Congenital Muscular Dystrophy
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Fcmd
|
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MDDGA4
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Fukuyama Type Congenital Muscular Dystrophy
|
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Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related
|
Cerebromuscular Dystrophy, Fukuyama Type
|
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Fukuyama Cmd
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Fukuyama Muscular Dystrophy
|
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Fukuyama Syndrome
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Muscular Dystrophy, Congenital Progressive, With Mental Retardation
|
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Muscular Dystrophy, Congenital, Fukuyama Type
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Muscular Dystrophy, Congenital, With Central Nervous System Involvement
|
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Polymicrogyria With Muscular Dystrophy
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Congenital Muscular Dystrophy, Fukuyama Type
|
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Fktn-Related Congenital Muscular Dystrophy
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Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
|
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Cerebromuscular Dystrophy Fukuyama Type
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Congenital Muscular Dystrophy Fukuyama Type
|
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Micropolygyria With Muscular Dystrophy
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Muscle-Eye-Brain Disease Fktn-Related
|
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Walker-Warburg Syndrome Fktn-Related
|
|
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| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Hyperphosphatemic Familial Tumoral Calcinosis
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Hftc
|
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Hyperostosis-Hyperphosphatemia Syndrome
|
Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome
|
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Tumoral Calcinosis, Hyperphosphatemic, Familial
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Phptc
|
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Lipocalcinogranulomatosis
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Morbus Teutschlaender
|
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Hhs
|
Hyperostosis With Hyperphosphatemia
|
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Cortical Hyperostosis With Hyperphosphatemia
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Primary Hyperphosphatemic Tumoral Calcinosis
|
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Familial Tumoral Calcinosis
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HFTC1
|
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Hypercalcemic Tumoral Calcinosis
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Hyperphosphatemia Hyperostosis
|
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Hyperphosphatemia Hyperostosis Syndrome
|
Hyperphosphatemia Tumoral Calcinosis
|
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Tumoral Calcinosis
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Calcinosis, Tumoral, With Hyperphosphatemia
|
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Tumoral Calcinosis, Primary Hyperphosphatemic
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Teutschlaender Disease, Familial
|
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Familial Teutschlaender Disease
|
Tumoral Calcinosis With Hyperphosphatemia
|
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Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome
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Ftc/Hhs
|
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Familial Tumoral Calcinosis With Hyperphosphatemia
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Teutschlaender Disease
|
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Tumoral Calcinosis Primary Hyperphosphatemic
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Calcinosis, Tumoral, Hyperphosphatemic, Familial
|
|
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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
|
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Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
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Pseudohypertrophic Atrophy
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Pseudohypertrophic Muscle Paralysis
|
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Pseudohypertrophic Muscular Atrophy
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Pseudohypertrophic Muscular Dystrophy
|
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Pseudohypertrophic Paralysis
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Pseudomuscular Hypertrophy
|
|
|
| Hereditary Multiple Osteochondromas |
|
Hereditary Multiple Exostoses
|
Diaphyseal Aclasis
|
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Multiple Cartilaginous Exostoses
|
Multiple Hereditary Exostoses
|
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Bessel-Hagen Disease
|
Exostoses, Multiple Hereditary
|
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Familial Exostoses
|
Multiple Congenital Exostosis
|
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Multiple Osteochondromas
|
Multiple Osteochondromatosis
|
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Osteochondromatosis
|
|
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| Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
|
MDDGB1
|
Muscular Dystrophy-Dystroglycanopathy , Type B1
|
|
Muscular Dystrophy, Congenital, Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy Type B1
|
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Cmd Due To Dystroglycanopathy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
|
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Muscular Dystrophy Congenital Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy
|
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Dystrophy, Muscular, Dystroglycanopathy , Type B1
|
|
|
| Muscular Dystrophy-Dystroglycanopathy |
|
Cmd Due To Dystroglycanopathy
|
Congenital Muscular Dystrophy Due To Dystroglycanopathy
|
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Mddg
|
Dystrophy, Muscular, Dystroglycanopathy
|
|
|
| Cobblestone Lissencephaly |
|
Lissencephaly Type 2
|
Lissencephaly, Cobblestone
|
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Due To Lmna Mutation
|
|
MDCL
|
L-Cmd
|
|
Lmna-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital
|
|
Congenital Muscular Dystrophy Lmna-Related
|
Lmna-Related Cmd
|
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Cmd
|
Mdc
|
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Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
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Dystrophy, Muscular, Congenital
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Hereditary Muscular Dystrophy
|
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Congenital Hereditary Muscular Dystrophy
|
Congenital Progressive Muscular Dystrophy
|
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Hereditary Progressive Muscular Dystrophy
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o
|
MDDGC3
|
|
Lgmd2o
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15
|
|
Lgmdr15
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related
|
|
Muscular Dystrophy, Limb-Girdle, Type 2o
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
|
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Muscular Dystrophy-Dystroglycanopathy Type C3
|
Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15
|
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Lgmd Type 2o
|
Limb-Girdle Muscular Dystrophy Type 2o
|
|
Pomgnt1-Related Lgmd R15
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3
|
|
Dystrophy, Muscular, Limb-Girdle, Type 2o
|
|
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| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies
|
Mddga
|
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Klissencephaly Type 2 With Muscular And Ocular Involvement
|
Lissencephaly Type 2 With Muscular And Ocular Involvement
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3
|
Mddga3
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3
|
|
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| Cardiomyopathy, Dilated, 1kk |
|
Cardiomyopathy, Familial Restrictive, 4
|
Dilated Cardiomyopathy 1kk
|
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CMD1KK
|
Cardiomyopathy, Hypertrophic, 22
|
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Cardiomyopathy, Dilated 1kk
|
Cardiomyopathy, Familial Hypertrophic 22
|
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CMH22
|
Cardiomyopathy, Familial Restrictive 4
|
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RCM4
|
Familial Hypertrophic Cardiomyopathy 22
|
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Cardiomyopathy, Dilated, Type 1kk
|
Cardiomyopathy, Familial Hypertrophic, 22
|
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
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Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Nemaline Myopathy 11, Autosomal Recessive |
|
NEM11
|
Nemaline Myopathy 11
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic Cardiomyopathy 9
|
CMH9
|
|
Cardiomyopathy, Familial Hypertrophic 9
|
Cardiomyopathy, Hypertrophic, Familial, Type 9
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Lgmd2b
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
|
Beta-Sarcoglycanopathy
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y
|
Muscular Dystrophy, Limb-Girdle, Type 3
|
|
Lgmd3
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
|
|
LGMDR2
|
Muscular Dystrophy, Limb-Girdle, Type 2s
|
|
Limb-Girdle Muscular Dystrophy Type 2b
|
Lgmd2e
|
|
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2e
|
|
Lgmd2s
|
Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
|
|
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency
|
Lgmd2y
|
|
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine
|
Muscular Dystrophy, Limb-Girdle, Type 2y
|
|
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
|
|
Dysferlin-Related Lgmd R2
|
Lgmd Due To Dysferlin Deficiency
|
|
Lgmd Type 2b
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
|
Limb-Girdle Muscular Dystrophy 2b
|
Limb-Girdle Muscular Dystrophy, Type 2b
|
|
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2
|
Dystrophy, Muscular, Limb-Girdle, Type 2b
|
|
Limb-Girdle Muscular Dystrophy, Type 2e
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Rippling Muscle Disease 2 |
|
Rippling Muscle Disease
|
Rmd
|
|
Lgmd1c
|
RMD2
|
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
|
Muscular Dystrophy, Limb-Girdle, Type 1c
|
|
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly
|
Lgmd1c, Formerly
|
|
Limb-Girdle Muscular Dystrophy Type 1c
|
Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency
|
|
Muscular Dystrophy, Limb-Girdle, Type Ic
|
Rippling Muscle Syndrome
|
|
Limb-Girdle Muscular Dystrophy 1c
|
Dystrophy, Muscular, Limb-Girdle, Type 1c
|
|
Disease, Muscle, Rippling, Type 2
|
Rippling Muscle Disease 1
|
|
|
| Adams-Oliver Syndrome |
|
Adams Oliver Syndrome
|
Aos
|
|
Congenital Scalp Defects With Distal Limb Reduction Anomalies
|
Aplasia Cutis Congenita With Terminal Transverse Limb Defects
|
|
Congenital Scalp Defects With Distal Limb Anomalies
|
Limb, Scalp And Skull Defects
|
|
Limb Scalp And Skull Defects
|
Absence Defect Of Limbs, Scalp, And Skull
|
|
|
| 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
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
