| 疾病名称 |
别名 |
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 15 |
|
Congenital Disorder Of Glycosylation, Type Io
|
Cdg1o
|
|
MDDGC15
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dpm3-Related
|
|
Cdg Io
|
Cdgio
|
|
Dpm3-Cdg
|
Cdg-Io
|
|
Congenital Disorder Of Glycosylation Type Io
|
Cdg1
|
|
Cdg Syndrome Type Io
|
Carbohydrate Deficient Glycoprotein Syndrome Type Io
|
|
Congenital Disorder Of Glycosylation Type 1o
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C15
|
|
Congenital Disorder Of Glycosylation 1o
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 15 |
|
MDDGB15
|
Muscular Dystrophy, Congenital, Dpm3-Related
|
|
Muscular Dystrophy-Dystroglycanopathy Type B15
|
Congenital Muscular Dystrophy Dpm3-Related
|
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B15
|
Dystrophy, Muscular, Dystroglycanopathy , Type B15
|
|
|
| Muscular Dystrophy-Dystroglycanopathy |
|
Cmd Due To Dystroglycanopathy
|
Congenital Muscular Dystrophy Due To Dystroglycanopathy
|
|
Mddg
|
Dystrophy, Muscular, Dystroglycanopathy
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Immunodeficiency 47 |
|
Congenital Disorder Of Glycosylation Type Ii
|
CDG2E
|
|
Congenital Disorder Of Glycosylation Type Iie
|
IMD47
|
|
Cdg2s
|
Cdg Iis
|
|
Cdgiis
|
Immunodeficiency And Hepatopathy With Or Without Neurologic Features
|
|
Congenital Disorder Of Glycosylation, Type Ii
|
CDG1I
|
|
Congenital Disorder Of Glycosylation, Type Iie
|
Cdg Iie
|
|
Congenital Disorder Of Glycosylation Type 2e
|
Congenital Disorder Of Glycosylation, Type Iis
|
|
Cdg Ii
|
Cdgii
|
|
Cdgiie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iie
|
|
Cdg Syndrome Type Iie
|
Congenital Disorder Of Glycosylation Ii
|
|
Congenital Disorder Of Glycosylation 1i
|
Cdg-Iie
|
|
Alg2-Cdg
|
Cdg-Ii
|
|
Glycosylation, Congenital Disorder Of, Type Ii
|
Cdgiide
|
|
Congenital Disorder Of Glycosylation Type Iis
|
Cog7-Cdg
|
|
Cdg Syndrome Type Ii
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ii
|
|
Congenital Disorder Of Glycosylation Type 1i
|
Mannosyltransferase 2 Deficiency
|
|
Congenital Disorder Of Glycosylation 2e
|
Congenital Disorder Of Glycosylation 2s
|
|
Congenital Disorders Of Glycosylation Type Ii
|
Glycosylation, Congenital Disorder Of, Type Iie
|
|
Immunodeficiency, Type 47
|
Congenital Disorder Of Glycosylation Type 2a
|
|
|
| Developmental And Epileptic Encephalopathy 36 |
|
Congenital Disorder Of Glycosylation Type I
|
Epileptic Encephalopathy, Early Infantile, 36
|
|
Congenital Disorder Of Glycosylation, Type Is
|
Cdg1s
|
|
Congenital Disorder Of Glycosylation, Type Ie
|
CDG1E
|
|
Congenital Disorder Of Glycosylation Type 1e
|
DEE36
|
|
Eiee36
|
Cdg Is
|
|
Cdgis
|
Congenital Disorder Of Glycosylation Ie
|
|
Congenital Disorder Of Glycosylation 1e
|
Cdg-Is
|
|
Congenital Disorder Of Glycosylation Type Is
|
Developmental And Epileptic Encephalopathy, 36
|
|
Cdg Ie
|
Cdgie
|
|
Early Infantile Epileptic Encephalopathy 36
|
Alg13-Cdg
|
|
Cdg Syndrome Type Is
|
Congenital Disorder Of Glycosylation Type 1s
|
|
Dpm1-Cdg
|
Cdg Syndrome Type Ie
|
|
Cdg-Ie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ie
|
|
Congenital Disorder Of Glycosylation Type Ie
|
Dol-P-Mannosyltransferase Deficiency
|
|
Congenital Disorder Of Glycosylation 1s
|
Glycosylation, Congenital Disorder Of, Type I
|
|
Glycosylation, Congenital Disorder Of, Type Ie
|
Congenital Disorder Of Glycosylation Type 1a
|
|
Congenital Disorder Of Glycosylation, Type Iu
|
|
|
| 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 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
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k
|
Lgmd2k
|
|
MDDGC1
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11
|
|
Lgmdr11
|
Muscular Dystrophy, Limb-Girdle, Type 2k
|
|
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome
|
Limb-Girdle Muscular Dystrophy Type 2k
|
|
Muscular Dystrophy Limb-Girdle Type 2k
|
Muscular Dystrophy-Dystroglycanopathy Type C 1
|
|
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
|
Lgmd Type 2k
|
|
Pomt1-Related Lgmd R11
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1
|
|
Dystrophy, Muscular, Limb-Girdle, Type 2k
|
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1
|
|
|
| Congenital Disorder Of Glycosylation, Type Im |
|
Dolichol Kinase Deficiency
|
CDG1M
|
|
Dk1 Deficiency
|
Cdg Im
|
|
Cdgim
|
Congenital Disorder Of Glycosylation Im
|
|
Congenital Disorder Of Glycosylation 1m
|
Dolk-Congenital Disorder Of Glycosylation
|
|
Dk1-Cdg
|
Cdg-Im
|
|
Congenital Disorder Of Glycosylation Type Im
|
Cdg Syndrome Type Im
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Im
|
Congenital Disorder Of Glycosylation Type 1m
|
|
Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency
|
Glycosylation, Congenital Disorder Of, Type Im
|
|
|
| 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
|
|
Muscular Dystrophy-Dystroglycanopathy Type C3
|
Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15
|
|
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
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
|
Lgmd2n
|
|
MDDGC2
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14
|
|
Lgmdr14
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related
|
|
Limb-Girdle Muscular Dystrophy Type 2n
|
Muscular Dystrophy, Limb-Girdle, Type 2n
|
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related
|
Muscular Dystrophy-Dystroglycanopathy Type C 2
|
|
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
|
Lgmd Type 2n
|
|
Pomt2-Related Lgmd R14
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2
|
|
Mdgd2c
|
Dystrophy, Muscular, Limb-Girdle, Type 2n
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A2
|
Mddga2
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt2-Related
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A2
|
|
|
| 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
|
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6
|
Muscular Dystrophy Large-Related
|
|
|
| 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
|
|
|
| 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
|
|
|
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
MCAHS4
|
Glycosylphosphatidylinositol Biosynthesis Defect 19
|
|
Gpibd19
|
Developmental And Epileptic Encephalopathy 77
|
|
Epileptic Encephalopathy, Early Infantile, 77
|
Dee77
|
|
Eiee77
|
Developmental And Epileptic Encephalopathy, 77
|
|
Early Infantile Epileptic Encephalopathy 77
|
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1
|
Mddga1
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
|
|
|
| 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
|
|
|
| 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, 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
|
|
Cmd
|
Mdc
|
|
Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
|
Dystrophy, Muscular, Congenital
|
Hereditary Muscular Dystrophy
|
|
Congenital Hereditary Muscular Dystrophy
|
Congenital Progressive Muscular Dystrophy
|
|
Hereditary Progressive Muscular Dystrophy
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m
|
Lgmd2m
|
|
MDDGC4
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13
|
|
Lgmdr13
|
Muscular Dystrophy, Limb-Girdle, Type 2m
|
|
Muscular Dystrophy-Dystroglycanopathy Type C 4
|
Fukutin-Related Limb-Girdle Muscular Dystrophy R13
|
|
Autosomal Recessive Lgmd Type 2m
|
Fukutin-Related Lgmd R13
|
|
Lgmd Type 2m
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4
|
|
Limb-Girdle Muscular Dystrophy Type 2m
|
Mdgd4c
|
|
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c
|
Dystrophy, Muscular, Limb-Girdle, Type 2m
|
|
|
| Hydrophthalmos |
|
|
| Glaucoma 3, Primary Congenital, A |
|
Buphthalmos
|
Glaucoma, Congenital
|
|
Congenital Glaucoma
|
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
|
|
GLC3A
|
Glc3
|
|
Buphthalmia
|
Primary Congenital Glaucoma
|
|
Glaucoma, Primary Open Angle, Juvenile-Onset
|
Simple Buphthalmos
|
|
Buphthalmus
|
Glaucoma, Primary Open Angle, Adult-Onset
|
|
Primary Congenital Glaucoma 3a
|
Primary Infantile Glaucoma Type 3a
|
|
Glaucoma 3a, Primary Congenital
|
Glaucoma, Congenital, Primary, Type 3a
|
|
Hydrophthalmos
|
Cystic Eyeball
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
Congenital Disorder Of Glycosylation
|
CDG1N
|
|
Congenital Disorders Of Glycosylation
|
Cdg In
|
|
Cdgin
|
Congenital Disorder Of Glycosylation 1n
|
|
Carbohydrate-Deficient Glycoprotein Syndrome
|
Cdg
|
|
Rft1-Cdg
|
Cdg-In
|
|
Congenital Disorder Of Glycosylation Type In
|
Carbohydrate Deficient Glycoprotein Syndrome
|
|
Cdg Syndrome
|
Congenital Disorder Of Glycosylation In
|
|
Carbohydrate-Deficient Glycoprotein Syndromes
|
Cdg Syndrome Type In
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type In
|
Congenital Disorder Of Glycosylation Type 1n
|
|
Man5glcnac2-Pp-Dol Flippase Deficiency
|
Glycosylation, Congenital Disorder Of
|
|
Glycosylation, Congenital Disorder Of, Type In
|
|
|
| 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
|
|
|
| Congenital Myasthenic Syndrome |
|
Congenital Myasthenia
|
Congenital Myasthenic Syndromes
|
|
Cms
|
Myasthenic Syndromes, Congenital
|
|
Myasthenic Syndromes Congenital
|
Myasthenic Syndrome, Congenital
|
|
Congenital Myasthenic Syndrome Ib
|
Congenital And Developmental Myasthenia
|
|
Developmental Myasthenia
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
