| Diseases |
Alias |
|
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Megaconial Type Congenital Muscular Dystrophy
|
Congenital Megaconial Myopathy
|
|
Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect
|
Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities
|
|
Megaconial Congenital Muscular Dystrophy
|
MDCMC
|
|
Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities
|
Megaconial Congénital Muscular Dystrophy
|
|
Dystrophy, Muscular, Congenital, Megaconial Type
|
|
|
| Proximal Myopathy With Focal Depletion Of Mitochondria |
|
|
| 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
|
|
|
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Metabolic Encephalomyopathic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
|
MECRCN
|
|
Rhabdomyolysis
|
|
|
| Anterolateral Myocardial Infarction |
|
Anterior Wall Myocardial Infarction
|
Anterior Myocardial Infarction
|
|
|
| Spinal Muscular Atrophy, Type Iii |
|
SMA3
|
Juvenile Spinal Muscular Atrophy
|
|
Kugelberg-Welander Disease
|
Sma Iii
|
|
Kugelberg-Welander Syndrome
|
Kws
|
|
Muscular Atrophy, Juvenile
|
Spinal Muscular Atrophy, Mild Childhood And Adolescent Form
|
|
Spinal Muscular Atrophy-3
|
Spinal Muscular Atrophy Type 3
|
|
Spinal Muscular Atrophy, Type Iii, Modifier Of
|
Type Iii Spinal Muscular Atrophy
|
|
Sma 3
|
Proximal Spinal Muscular Atrophy Type 3
|
|
Sma Type 3
|
Sma Type Iii
|
|
Sma-Iii
|
Spinal Muscular Atrophy 3
|
|
Spinal Muscular Atrophy Mild Childhood And Adolescent Form
|
Spinal Muscular Atrophy Type Iii
|
|
Wohlfart-Kugelberg-Welander Disease
|
Atrophy, Muscular, Spinal, Type Iii
|
|
|
| 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
|
|
|
| Myositis |
|
Idiopathic Inflammatory Myopathy
|
Idiopathic Inflammatory Myositis
|
|
Iim
|
Imm
|
|
Idiopathic Inflammatory Myopathies
|
Myopathy, Familial Idiopathic Inflammatory
|
|
Inflammatory Disorder Of Muscle
|
Idiopathic Inflammatory Myopathy, Familial
|
|
Inflammatory Myopathy, Idiopathic
|
Myopathies Idiopathic Inflammatory
|
|
Familial Idiopathic Inflammatory Myopathy
|
|
|
| Cataract 30 |
|
Cataract 30 Pulverulent
|
Cataract Coppock-Like
|
|
Ctrct30
|
Dusty Cataract
|
|
Cataract, Type 30
|
|
|
| Inflammatory Liposarcoma |
|
|
| Batten-Turner Congenital Myopathy |
|
Congenital Myopathy
|
Batten Turner Congenital Myopathy
|
|
Myopathy Congenital
|
Myopathy, Congenital
|
|
Myotonia Congenita
|
Benign Congenital Myopathy
|
|
|
| Narcolepsy |
|
Paroxysmal Sleep
|
Gelineau Syndrome
|
|
Narcoleptic Syndrome
|
Narcolepsy-Cataplexy Syndrome
|
|
Cataplexy And Narcolepsy
|
Narcolepsy, Without Cataplexy
|
|
Gelineau'S Syndrome
|
Narcolepsy With Or Without Cataplexy
|
|
Narcolepsy Nos
|
|
|
| Creatine Phosphokinase, Elevated Serum |
|
Hyperckemia, Idiopathic
|
Cpk, Elevated Serum
|
|
Hyperckmia
|
HYPCK
|
|
|
| Glycogen Storage Disease V |
|
Mcardle Disease
|
Myophosphorylase Deficiency
|
|
Glycogen Storage Disease Type V
|
Muscle Glycogen Phosphorylase Deficiency
|
|
Pygm Deficiency
|
Gsd V
|
|
Glycogen Storage Disease, Type V
|
Glycogenosis Type V
|
|
Glycogen Storage Disease Type 5
|
GSD5
|
|
Pygmy
|
Mcardle'S Disease
|
|
Mcardle Type Glycogen Storage Disease
|
Gsd Type V
|
|
Pygmy, African
|
Gsdv
|
|
Gsd 5
|
Glycogenosis 5
|
|
Mcardle Syndrome
|
Muscle Phosphorylase Deficiency
|
|
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
|
Gsd Due To Muscle Glycogen Phosphorylase Deficiency
|
|
Gsd Type 5
|
Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency
|
|
Glycogenosis Type 5
|
Glycogen Storage Disease 5
|
|
Gsd-V
|
Mcardles Disease
|
|
Storage Disease, Glycogen, Type V
|
|
|
| Compartment Syndrome |
|
Compartment Syndromes
|
Compartmental Syndrome
|
|
|
| Cataract 7 |
|
Cca1
|
CTRCT7
|
|
Cerulean Cataract
|
Cataract 7, Cerulean Type
|
|
Cataract, Congenital, Cerulean Type, 1
|
Cerulean Type Cataract 7
|
|
Congenital Cerulean Type Cataract 1
|
Cataract, Congenital, Blue Dot Type 1
|
|
Cataract, Congenital, Cerulean Type 1
|
Blue-Dot Cataract
|
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
MC1DN33
|
Nuclear Type Mitochondrial Complex I Deficiency 33
|
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 33
|
|
|
| Neuroleptic Malignant Syndrome |
|
|
| Lenz-Majewski Hyperostotic Dwarfism |
|
Lenz-Majewski Syndrome
|
Lenz Majewski Hyperostotic Dwarfism
|
|
LMHD
|
Hyperostotic Dwarfism Lenz-Majewski Type
|
|
Lenz-Majewski Hyperostotic Dysplasia
|
Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis
|
|
Lms
|
|
|
| Armfield Syndrome |
|
X-Linked Intellectual Disability, Armfield Type
|
Armfield X-Linked Mental Retardation Syndrome
|
|
Mental Retardation Syndrome, X-Linked, Armfield Type
|
Mrxsa
|
|
Syndromic X-Linked Mental Retardation Armfield Type
|
|
|
| Cardiac Rupture |
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Froelich Syndrome |
|
Froehlich'S Syndrome
|
Froelich'S Syndrome
|
|
Adiposogenital Syndrome
|
Babinski-Froelich Syndrome
|
|
Froehlich Syndrome
|
|
|
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Megdel Syndrome
|
MEGDEL
|
|
Mgca6
|
3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome
|
|
Megdhel
|
3-Methylglutaconic Aciduria, Type Vi
|
|
Serac1 Defect
|
3-Methylglutaconic Aciduria Type 6
|
|
3-Mgca Type Iv
|
3-Mgca-4
|
|
3-Methylglutaconic Aciduria Type Vi
|
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome
|
|
Megdhel Syndrome
|
3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome
|
|
3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome
|
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome
|
|
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
|
|
|
| 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
|
|
|
| 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
|
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Paroxysmal Familial Ventricular Fibrillation
|
Ivf
|
|
Ventricular Fibrillation, Idiopathic
|
Ventricular Fibrillation
|
|
VF1
|
Vf
|
|
Ventricular Fibrillation, Familial, 1
|
Paroxysmal Ventricular Fibrillation
|
|
Idiopathic Ventricular Fibrillation
|
Ventricular Fibrillation, Paroxysmal Familial, Type 1
|
|
Ventricular Fibrillation, Paroxysmal Familial
|
Familial Paroxysmal Ventricular Fibrillation 1
|
|
Susceptibility To Ventricular Fibrillation During Myocardial Infarction
|
Ventricular Fibrillation Adverse Event
|
|
|
| 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
|
|
|
| Sengers Syndrome |
|
Mitochondrial Dna Depletion Syndrome 10
|
Cardiomyopathy And Cataract
|
|
Cataract And Cardiomyopathy
|
MTDPS10
|
|
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
|
Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10
|
|
Senger Syndrome
|
|
|
| Muscular Atrophy |
|
Muscle Wasting
|
Amyotrophia
|
|
Wasting - Muscle
|
Skeletal Muscle Atrophy
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| 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
|
|
|
| Lipoprotein Quantitative Trait Locus |
|
Coronary Artery Disease
|
Coronary Artery Anomaly
|
|
Coronary Artery Disease, Susceptibility To
|
Myocardial Ischemia
|
|
Congenital Anomaly Of Coronary Artery
|
Coronary Arteriosclerosis
|
|
Coronary Disease
|
Coronary Heart Disease
|
|
Coronary Artery Disorder
|
LPAQTL
|
|
Lpa Deficiency, Congenital
|
Coronary Artery Abnormality
|
|
Coronary Artery Anomaly, Congenital
|
Chd
|
|
Coronary Syndrome
|
Congenital Malformations Of Coronary Vessels
|
|
Malformation Of Coronary Vessels
|
Congenital Coronary Artery Anomaly
|
|
Congenital Coronary Artery Deformity
|
Congenital Coronary Artery Disorder
|
|
Abnormal Coronary Artery
|
Congenital Coronary Artery Malposition
|
|
Congenital Coronary Disease
|
Congenital Anomaly Of Coronary Arteries
|
|
|
| Hypotonia-Cystinuria Syndrome |
|
Cystinuria With Mitochondrial Disease
|
2p21 Microdeletion Syndrome
|
|
HCS
|
Homozygous 2p16 Deletion Syndrome, Formerly
|
|
2p21 Deletion Syndrome
|
Del(2)(P21)
|
|
Monosomy 2p21
|
Atypical Hypotonia-Cystinuria Syndrome
|
|
Atypical Hcs
|
|
|
| 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
|
|
|
| Epidermoid Cysts |
|
Epidermoid Cyst
|
Sebaceous Cyst
|
|
Epidermal Inclusion Cyst
|
Epidermal Cyst
|
|
|
