| 疾病名称 |
别名 |
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
|
Lgmd2p
|
|
MDDGC9
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16
|
|
Lgmdr16
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related
|
|
Muscular Dystrophy, Limb-Girdle, Type 2p
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related
|
|
Muscular Dystrophy-Dystroglycanopathy Type C9
|
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
|
|
Alpha-Dystroglycan-Related Lgmd R16
|
Lgmd Type 2p
|
|
Limb-Girdle Muscular Dystrophy Type 2p
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9
|
|
Muscular Dystrophy Limb-Girdle Type 2p
|
Dystrophy, Muscular, Limb-Girdle, Type 2p
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 9 |
|
MDDGA9
|
Walker-Warburg Syndrome Or Muscle-Eye Brain Disease, Dag1-Related
|
|
Muscular Dystrophy-Dystroglycanopathy , Type A9
|
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
|
|
Meb Disease With Bilateral Multicystic Leucodystrophy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A9
|
|
Dystrophy, Muscular, Dystroglycanopathy , Type A9
|
|
|
| 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
|
|
|
| Lassa Fever |
|
Lf
|
Lassa Hemorrhagic Fever
|
|
Lf - [Lassa Fever]
|
|
|
| Lymphocytic Choriomeningitis |
|
Lcm
|
Lymphocytic Meningitis
|
|
Lymphocytic Choriomeningitis Virus Encephalomyelitis
|
Lymphocytic Meningoencephalitis
|
|
Non-Arthropod Borne Lymphocytic Choriomeningitis
|
Lcm - [Lymphocytic Choriomeningitis]
|
|
Benign Lymphocytic Meningitis
|
Meningitis Due To Lymphocytic Choriomeningitis Virus
|
|
|
| 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
|
|
|
| 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
|
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
Elevated Serum Cpk
|
Idiopathic Hyperckemia
|
|
Isolated Hyperckemia
|
Elevated Serum Creatine Phosphokinase
|
|
H-Ck
|
Idiopathic Persistent Elevation Of Serum Creatine Kinase
|
|
|
| Cobblestone Lissencephaly |
|
Lissencephaly Type 2
|
Lissencephaly, Cobblestone
|
|
|
| Creatine Phosphokinase, Elevated Serum |
|
Hyperckemia, Idiopathic
|
Cpk, Elevated Serum
|
|
Hyperckmia
|
HYPCK
|
|
|
| Muscular Dystrophy-Dystroglycanopathy |
|
Cmd Due To Dystroglycanopathy
|
Congenital Muscular Dystrophy Due To Dystroglycanopathy
|
|
Mddg
|
Dystrophy, Muscular, Dystroglycanopathy
|
|
|
| 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
|
|
|
| Cardiomyopathy, Dilated, 1d |
|
Dilated Cardiomyopathy 1d
|
CMD1D
|
|
Left Ventricular Noncompaction 6, Included
|
Lvnc6, Included
|
|
Left Ventricular Noncompaction 6
|
Cardiomyopathy, Dilated 1d
|
|
|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
MDC1A
|
Lama2-Related Muscular Dystrophy
|
|
Atrophie Blanche
|
Muscular Dystrophy, Congenital Merosin-Deficient
|
|
Congenital Merosin-Deficient Muscular Dystrophy 1a
|
Merosin-Negative Congenital Muscular Dystrophy
|
|
Muscular Dystrophy White Matter Spongiosis
|
Merosin Deficient Congenital Muscular Dystrophy
|
|
Muscular Dystrophy Congenital, Merosin Negative
|
Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
|
|
Cmd1a
|
Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
|
|
Congenital Muscular Dystrophy Type 1a
|
Laminin Alpha-2 Deficiency
|
|
Merosin-Deficient Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital, Merosin-Deficient
|
|
Lama2 Md
|
Laminin Alpha 2 Deficiency
|
|
Laminin Alpha-2 Deficient Muscular Dystrophy
|
Merosin-Deficient Muscular Dystrophy
|
|
Muscular Dystrophy Due To Lama2 Deficiency
|
Merosin-Deficient Congenital Muscular Dystrophy 1a
|
|
Cardiomyopathy, Familial Idiopathic
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
|
Lgmd2t
|
|
MDDGC14
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19
|
|
Lgmdr19
|
Muscular Dystrophy Limb-Girdle Type 2t
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related
|
Muscular Dystrophy, Limb-Girdle, Type 2t
|
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related
|
Muscular Dystrophy-Dystroglycanopathy Type C14
|
|
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
|
Gmppb-Related Lgmd R19
|
|
Lgmd Type 2t
|
Limb-Girdle Muscular Dystrophy Type 2t
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14
|
Dystrophy, Muscular, Limb-Girdle, Type 2t
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5
|
Mddga5
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-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 A14 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14
|
Mddga14
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14
|
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
|
Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Myocarditis |
|
Myocardial Inflammation
|
Inflammatory Cardiomyopathy
|
|
|
| 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 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
|
|
|
| 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
|
|
|
| Brazilian Hemorrhagic Fever |
|
|
| Venezuelan Hemorrhagic Fever |
|
Guanarito Hemorrhagic Fever
|
Vehf - [Venezuelan Haemorrhagic Fever]
|
|
|
| Nonaka Myopathy |
|
Gne Myopathy
|
Hibm
|
|
Distal Myopathy With Rimmed Vacuoles
|
Hereditary Inclusion Body Myopathy
|
|
Ibm2
|
Inclusion Body Myopathy, Quadriceps-Sparing
|
|
Qsm
|
Dmrv
|
|
Distal Myopathy, Nonaka Type
|
Inclusion Body Myopathy 2
|
|
Inclusion Body Myopathy, Autosomal Recessive
|
NM
|
|
Nonaka Distal Myopathy
|
Myopathy, Distal, With Or Without Rimmed Vacuoles
|
|
Inclusion Body Myopathy, Hereditary, Autosomal Recessive
|
Inclusion Body Myopathy Type 2
|
|
Quadriceps-Sparing Myopathy
|
Quadriceps Sparing Myopathy
|
|
Rimmed Vacuole Myopathy
|
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly
|
|
Ibm2, Formerly
|
Hibm2
|
|
Hereditary Inclusion Body Myopathy Type 2
|
Inclusion Body Myopathy 2, Autosomal Recessive
|
|
Myopathy, Distal, With Rimmed Vacuoles
|
Inclusion Body Myopathy Autosomal Recessive
|
|
Myopathy, Inclusion Body, Type 2
|
Myopathy, Nonaka
|
|
|
| Muscular Dystrophy, Congenital, 1b |
|
MDC1B
|
Congenital Muscular Dystrophy 1b
|
|
Cmd1b
|
Congenital Muscular Dystrophy Type 1b
|
|
Familial Dilated Cardiomyopathy
|
|
|
| Bolivian Hemorrhagic Fever |
|
Machupo Hemorrhagic Fever
|
Hemorrhagic Fever, Bolivian
|
|
Bhf - [Bolivian Haemorrhagic Fever]
|
Machupo Haemorrhagic Fever
|
|
|
| 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 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, 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
|
|
|
| Cardiomyopathy, Dilated, 1x |
|
Dilated Cardiomyopathy 1x
|
CMD1X
|
|
Dilated Cardiomyopathy With Mild Or No Proximal Muscle Weakness
|
Cardiomyopathy, Dilated, With Mild Or No Proximal Muscle Weakness
|
|
Cardiomyopathy, Dilated 1x
|
Cardiomyopathy, Dilated, Type 1x
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
|
Mdc1c
|
Muscular Dystrophy-Dystroglycanopathy Type B5
|
|
MDDGB5
|
Muscular Dystrophy, Congenital, 1c
|
|
Muscular Dystrophy, Congenital, Fkrp-Related
|
Congenital Muscular Dystrophy 1c
|
|
Fkrp-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5
|
|
Muscular Dystrophy Congenital Type 1c
|
Muscular Dystrophy Fkrp-Related
|
|
|
| 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
|
|
|
| Cardiomyopathy, Dilated, 3b |
|
Dilated Cardiomyopathy 3b
|
CMD3B
|
|
X-Linked Dilated Cardiomyopathy
|
Xlcm
|
|
Dmd-Associated Dilated Cardiomyopathy
|
Cardiomyopathy, Dilated, X-Linked
|
|
Dmd-Related Dilated Cardiomyopathy
|
Xldc
|
|
Cardiomyopathy, Dilated, X-Linked 3b
|
Cardiomyopathy, Dilated, Type 3b
|
|
|
| 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
|
|
|
| Argentine Hemorrhagic Fever |
|
Argentinian Hemorrhagic Fever
|
Junin Hemorrhagic Fever
|
|
Hemorrhagic Fever, Argentinian
|
Ahf - [Argentinian Haemorrhagic Fever]
|
|
Argentine Haemorrhagic Fever
|
Junin Haemorrhagic Fever
|
|
|
| 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
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z |
|
Limb-Girdle Muscular Dystrophy 21
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
Lgmd2i
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
|
|
MDDGC5
|
Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
|
|
Limb-Girdle Muscular Dystrophy Type 2i
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
|
|
Lgmdr9
|
Muscular Dystrophy, Limb-Girdle, Type 2i
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related
|
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
|
|
Fkrp-Related Lgmd R9
|
Lgmd Due To Fkrp Deficiency
|
|
Lgmd Type 2i
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
|
|
Muscular Dystrophy Limb-Girdle Type 2i
|
Muscular Dystrophy-Dystroglycanopathy Type C 5
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5
|
Dystrophy, Muscular, Limb-Girdle, Type 2i
|
|
|
| Muscular Dystrophy, Duchenne Type |
|
Duchenne Muscular Dystrophy
|
DMD
|
|
Muscular Dystrophy, Duchenne
|
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
|
|
Severe Dystrophinopathy, Duchenne Type
|
Muscular Dystrophy Duchenne
|
|
Dystrophy, Muscular, Duchenne Type
|
Benign Duchenne Muscular Dystrophy
|
|
Duchenne Motor Neuron Disease
|
Duchenne Type Dystrophy
|
|
Duchenne-Griesinger Disease
|
|
|
| Miyoshi Muscular Dystrophy |
|
Distal Myopathy
|
Distal Muscular Dystrophy
|
|
Miyoshi Myopathy
|
Distal Myopathies
|
|
Dystrophy, Muscular, Miyoshi
|
Myopathy, Distal
|
|
Distal Muscular Dystrophies
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
|
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1
|
Deficiency Of Sarcoglycan Gamma
|
|
Dmda1
|
Gamma-Sarcoglycanopathy
|
|
Lgmd2c
|
Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency
|
|
Maghrebian Myopathy
|
Muscular Dystrophy, Limb-Girdle, Type 2c
|
|
Scarmd
|
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
Alpha-Sarcoglycanopathy
|
Dmda2
|
|
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2
|
Lgmd2d
|
|
Muscular Dystrophy, Limb-Girdle, Type 2d
|
Primary Adhalinopathy
|
|
|
| Muscular Dystrophy, Becker Type |
|
Becker Muscular Dystrophy
|
BMD
|
|
Benign Pseudohypertrophic Muscular Dystrophy
|
Benign Congenital Myopathy
|
|
Becker Dystrophinopathy
|
Becker'S Muscular Dystrophy
|
|
Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type
|
Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type
|
|
Muscular Dystrophy Becker
|
Dystrophy, Muscular, Becker Type
|
|
Dystrophinopathy
|
Becker Dystrophy
|
|
Becker Type Dystrophy
|
Bmd - [Becker Muscular Dystrophy]
|
|
|
| Muscle Tissue Disease |
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11
|
Mddga11
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
|
Delta-Sarcoglycanopathy
|
Lgmd2f
|
|
Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency
|
Limb-Girdle Muscular Dystrophy Type 2f
|
|
|
| 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, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency
|
Muscular Dystrophy, Congenital, Due To Itga7 Deficiency
|
|
Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency
|
Congenital Muscular Dystrophy With Itga7 Deficiency
|
|
Congenital Myopathy Due To Integrin Alpha-7 Deficiency
|
Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency
|
|
Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency
|
MDCI
|
|
Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency
|
|
|
| Bethlem Myopathy 1 |
|
Bethlem Myopathy
|
Myopathy, Benign Congenital, With Contractures
|
|
Muscular Dystrophy, Benign Congenital
|
BTHLM1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5
|
Lgmdd5
|
|
Benign Congenital Muscular Dystrophy
|
Benign Autosomal Dominant Myopathy
|
|
Myopathy, Bethlem
|
Myopathy, Bethlem, Type 1
|
|
|
| Lujo Hemorrhagic Fever |
|
Zambian Hemorrhagic Fever
|
|
|
| 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
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
|
Leyden-Moebius Muscular Dystrophy
|
Lgmd2a
|
|
Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2a
|
|
Pelvofemoral Muscular Dystrophy
|
Primary Calpainopathy
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
|
Lgmd2l
|
Muscular Dystrophy, Limb-Girdle, Type 2l
|
|
|
| Muscular Disease |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
Arrhythmogenic Right Ventricular Dysplasia
|
Arvc
|
|
Arvd
|
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
|
|
Arvc Cardiomyopathy
|
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
|
|
Arvd/C
|
Right Ventricular Dysplasia, Arrhythmogenic
|
|
Ventricular Dysplasia, Right, Arrhythmogenic
|
Cardiomyopathy, Ventricular, Right, Arrhythmogenic
|
|
Dysplasia, Arrhythmogenic Right Ventricular
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Hydrophthalmos |
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
Ullrich Congenital Muscular Dystrophy
|
Ullrich Disease
|
|
Ucmd
|
Ullrich Scleroatonic Muscular Dystrophy
|
|
Scleroatonic Muscular Dystrophy
|
UCMD1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
|
Lgmdr22
|
|
Muscular Dystrophy, Scleroatonic
|
Late Onset Scleroatonic Familial Myopathy
|
|
Congenital Muscular Dystrophy, Ullrich Type
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
|
Lgmd2b
|
Lgmd3
|
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
Limb-Girdle Muscular Dystrophy Type 3
|
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
|
|
| 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
|
|
|
| Inner Ear Disease |
|
Labyrinthine Dysfunction
|
Diseases Of Inner Ear
|
|
Labyrinthine Disease
|
Abnormality Of The Inner Ear
|
|
Labyrinth Diseases
|
Labyrinthine Disorder
|
|
Nonfunctioning Labyrinth
|
Labyrinthine Loss Of Function
|
|
Labyrinthine Syndrome
|
Labyrinthine Disorder Nos
|
|
|
| Physical Disorder |
|
|
| Focal Segmental Glomerulosclerosis |
|
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome
|
Focal Glomerulosclerosis
|
|
Fsgs
|
Segmental Glomerulosclerosis
|
|
Glomerulosclerosis, Focal Segmental
|
Fgs
|
|
Focal Glomerular Sclerosis
|
Familial Idiopathic Nephrotic Syndrome
|
|
Focal Sclerosis With Hyalinosis
|
Glomerulosclerosis, Focal
|
|
Glomerulosclerosis Focal
|
Glomerulosclerosis, Segmental, Focal
|
|
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
|
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
Rigid Spine Syndrome
|
RSMD1
|
|
Rss
|
Mdrs1
|
|
Eichsfeld Type Congenital Muscular Dystrophy
|
Desmin-Related Myopathy With Mallory Bodies
|
|
Classic Multiminicore Myopathy
|
Sepn1-Related Myopathy
|
|
Multicore Myopathy, Severe Classic Form
|
Minicore Myopathy, Severe Classic Form
|
|
Multiminicore Disease, Severe Classic Form
|
Muscular Dystrophy, Rigid Spine, 1
|
|
Classic Mmd
|
Classic Multiminicore Disease
|
|
Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity
|
Desmin-Related Myopathy With Mallory Body-Like Inclusions
|
|
Early-Onset Desmin-Related Myopathy
|
Myopathy, Sepn1-Related
|
|
Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity
|
Muscular Dystrophy, Congenital, Eichsfeld Type
|
|
Severe Classic Form Minicore Myopathy
|
Severe Classic Form Multicore Myopathy
|
|
Severe Classic Form Multiminicore Disease
|
Desmin-Related Myopathies With Mallory Bodies
|
|
Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity
|
Rigid Spine Muscular Dystrophy-1
|
|
Rigid Spine Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Eichsfeld Type
|
|
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity
|
Minicore Myopathy Severe Classic Form
|
|
Multicore Myopathy Severe Classic Form
|
Multiminicore Disease Severe Classic Form
|
|
Dystrophy, Muscular, Rigid Spine, Type 1
|
|
|
| Neuromuscular Junction Disease |
|
Neuromuscular Junction Diseases
|
|
|
| Gas Gangrene |
|
Myonecrosis
|
Gas Bacillus Infection
|
|
Gas Gangrene Due To Clostridia
|
Clostridial Myonecrosis
|
|
Clostridial Cellulitis
|
|
|
| Fragile X Syndrome |
|
FXS
|
Martin-Bell Syndrome
|
|
Fraxa Syndrome
|
Marker X Syndrome
|
|
X-Linked Mental Retardation And Macroorchidism
|
Fragile X Mental Retardation Syndrome
|
|
Fra Syndrome
|
Mental Retardation, X-Linked, Associated With Marxq28
|
|
X-Linked Intellectual Disability And Macroorchidism
|
Frax Syndrome
|
|
Symptomatic Form Of Fragile X Syndrome In Female Carriers
|
Fragile-X Syndrome
|
|
Fraxe Syndrome
|
|
|
| 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
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
| Cardiomyopathy, Dilated, 1g |
|
Dilated Cardiomyopathy 1g
|
CMD1G
|
|
Cardiomyopathy, Dilated 1g
|
Cardiomyopathy, Dilated, Type 1g
|
|
|
| Peters-Plus Syndrome |
|
Krause-Kivlin Syndrome
|
Peters Plus Syndrome
|
|
Peters Anomaly
|
Irido-Corneo-Trabecular Dysgenesis
|
|
PTRPLS
|
Peters Anomaly With Short-Limb Dwarfism
|
|
Peters Anomaly-Short Limb Dwarfism Syndrome
|
Peters Anomaly With Short Limb Dwarfism
|
|
Peters Congenital Glaucoma
|
Krause-Van Schooneveld-Kivlin Syndrome
|
|
Peters' Plus Syndrome
|
Peters'-Plus Syndrome
|
|
Anomaly Peters
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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]
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
