| Diseases |
Alias |
|
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
ADLD
|
Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy
|
|
Leukodystrophy, Adult-Onset, Autosomal Dominant
|
Adult-Onset Autosomal Dominant Leukodystrophy
|
|
Autosomal Dominant Leukodystrophy With Autonomic Disease
|
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
|
|
Multiple Sclerosis-Like Disorder
|
Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type, Formerly
|
|
Autosomal-Dominant Or Late-Onset Type Pelizaeus-Merzbacher Disease
|
Pelizaeus-Merzbacher Disease, Autosomal Dominant Or Late-Onset Type
|
|
Adult-Onset Autosomal Dominant Leukodystrophy With Autonomic Symptoms
|
Lmnb1-Related Adult-Onset Autosomal Dominant Leukodystrophy
|
|
Leukodystrophy, Demyelinating, Autosomal Dominant, Adult-Onset
|
Pelizaeus-Merzbacher Disease Autosomal Dominant
|
|
Pelizaeus-Merzbacher Disease Late-Onset Type
|
Adult Onset Autosomal Dominant Leukodystrophy
|
|
|
| Microcephaly 26, Primary, Autosomal Dominant |
|
|
| Microcephaly, Autosomal Dominant |
|
Autosomal Dominant Microcephaly
|
Microcephaly Autosomal Dominant
|
|
Autosomal Dominant Primary Microcephaly
|
Microcephaly With Autosomal Dominant Inheritance
|
|
|
| Leukodystrophy |
|
|
| Hutchinson-Gilford Progeria Syndrome |
|
Progeria
|
HGPS
|
|
Hutchinson-Gilford Syndrome
|
Hutchinson-Gilford Progeria
|
|
Hutchinson Gilford Syndrome
|
Hutchinson Gilford Progeria Syndrome
|
|
Hutchinson-Gilford Disease
|
Progeria Of Childhood
|
|
Hutchinson-Gilford-Progeria Syndrome
|
|
|
| Lmnb1-Related Autosomal Dominant Leukodystrophy |
|
Adult-Onset Autosomal Dominant Leukodystrophy With Autonomic Symptoms
|
Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
|
|
Autosomal Dominant Leukodystrophy With Autonomic Symptoms
|
Lmnb1-Related Adld
|
|
|
| Emery-Dreifuss Muscular Dystrophy |
|
Edmd
|
Emery-Dreifuss Syndrome
|
|
Muscular Dystrophy, Emery-Dreifuss
|
Humeroperoneal Neuromuscular Disease
|
|
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
Scapuloperoneal Syndrome, X-Linked
|
|
Benign Scapuloperoneal Muscular Dystrophy With Early Contractures
|
Muscular Dystrophy, Emery-Dreifuss Type
|
|
Muscular Dystrophy Emery-Dreifuss
|
Dystrophy, Muscular, Emery-Dreifuss
|
|
Emd - [Emery-Dreifuss Muscular Dystrophy]
|
|
|
| Familial Partial Lipodystrophy |
|
Lipodystrophy, Familial Partial
|
Fpld
|
|
Kobberling-Dunnigan Syndrome
|
Dunnigan Syndrome
|
|
Koberling-Dunnigan Syndrome
|
Dunnigan-Kobberling Syndrome
|
|
Fpl
|
Familial Partial Lipodystrophy, Type 2
|
|
|
| Reynolds Syndrome |
|
Primary Biliary Cirrhosis, Scleroderma, Raynaud Disease, And Telangiectasia
|
Primary Biliary Cirrhosis And Systemic Scleroderma
|
|
REYNS
|
Primary Biliary Cirrhosis Scleroderma Raynaud Disease And Telangiectasia
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b1 |
|
Charcot-Marie-Tooth Disease Type 2b1
|
Charcot-Marie-Tooth Disease, Type 2b1
|
|
CMT2B1
|
Autosomal Recessive Axonal Cmt4c1
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1
|
Charcot-Marie-Tooth Disease Neuronal Type 2b1
|
|
Charcot-Marie-Tooth Neuropathy Type 2b1
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2b1
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1
|
Charcot-Marie-Tooth Neuropathy, Type 2b1
|
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1
|
Ar-Cmt2b1
|
|
Charcot-Marie-Tooth Disease 2b1
|
Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1
|
|
Charcot-Marie-Tooth Disease Axonal Type 2b1
|
|
|
| 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
|
|
|
| Lipodystrophy, Familial Partial, Type 2 |
|
FPLD2
|
Lipoatrophic Diabetes
|
|
Familial Partial Lipodystrophy Type 2
|
Familial Partial Lipodystrophy, Dunnigan Type
|
|
Fpl2
|
Lipoatrophic Diabetes Mellitus
|
|
Lipodystrophy, Familial Partial, Dunnigan Type
|
Lipodystrophy, Familial, Of Limbs And Lower Trunk
|
|
Lipodystrophy, Reverse Partial
|
Familial Partial Lipodystrophy Dunnigan Type
|
|
Dunnigan Syndrome
|
Familial Lipodystrophy Of Limbs And Lower Trunk
|
|
Reverse Partial Lipodystrophy
|
Lipodystrophy, Familial Partial, 2
|
|
Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules
|
Lipodystrophy Familial Of Limbs And Lower Trunk
|
|
Lipodystrophy Reverse Partial
|
Diabetes Mellitus, Lipoatrophic
|
|
Familial Partial Lipodystrophy, Type 2
|
Familial Generalized Lipodystrophy
|
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
EDMD2
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
|
|
Emd2
|
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
|
|
Scapuloilioperoneal Atrophy With Cardiopathy
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
|
|
Hauptmann-Thannhauser Muscular Dystrophy
|
Cardiomyopathy, Dilated, With Quadriceps Myopathy
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2
|
Muscular Dystrophy, Limb-Girdle, Type 1b
|
|
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly
|
Lgmd1b, Formerly
|
|
Muscular Dystrophy, Proximal, Type 1b, Formerly
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
|
|
Lgmd1b
|
Limb-Girdle Muscular Dystrophy 1b
|
|
Muscular Dystrophy, Proximal, Type 1b
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
|
|
|
| Greenberg Dysplasia |
|
Hem Dysplasia
|
Greenberg Skeletal Dysplasia
|
|
Hem Skeletal Dysplasia
|
GRBGD
|
|
Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia
|
Moth-Eaten Skeletal Dysplasia
|
|
Chondrodystrophy, Hydropic And Prenatally Lethal Type
|
Hydrops-Ectopic Calcification-Motheaten Syndrome
|
|
Skeletal Dysplasia, Greenberg Type
|
Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops
|
|
Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia
|
Hem
|
|
Hem/Greenberg Dysplasia
|
Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia
|
|
|
| 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
|
|
|
| Pelger-Huet Anomaly |
|
PHA
|
Pelger-Huët Anomaly
|
|
Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities
|
Pelger Huet Anomaly
|
|
Pelger-Huet Nuclear Anomaly
|
|
|
| Multiple Sclerosis |
|
MS
|
Multiple Sclerosis, Susceptibility To
|
|
Disseminated Sclerosis
|
Multiple Sclerosis, Disease Progression, Modifier Of
|
|
Insular Sclerosis
|
Multiple Sclerosis Modifier Of Disease Progression
|
|
Multiple Sclerosis, Susceptibility To 1
|
Multiple Sclerosis, Susceptibility To, 1
|
|
Multiple Sclerosis 1
|
Generalized Multiple Sclerosis
|
|
Multiple Sclerosis Variant
|
Multiple Sclerosis Susceptibility To
|
|
Cerebrospinal Sclerosis
|
Generalised Multiple Sclerosis
|
|
Ms - [Multiple Sclerosis]
|
Disseminated Cerebrospinal Sclerosis
|
|
Disseminated Multiple Sclerosis
|
Disseminated Nervous System Myelosclerosis
|
|
Multiple Cerebrospinal Sclerosis
|
Multiple Combined Sclerosis
|
|
Multiple Sclerosis Generalised
|
Disseminated Brain Sclerosis
|
|
Disseminated Spinal Sclerosis
|
Insular Brain Sclerosis
|
|
Miliary Brain Sclerosis
|
Multiple Combined Sclerosis Of Spinal Cord
|
|
Multiple Ascending Sclerosis
|
Multiple Brain Sclerosis
|
|
Multiple Sclerosis Of Brain Stem
|
Multiple Sclerosis Of The Brain Stem
|
|
Multiple Sclerosis Of Cord
|
Sclérose En Plaques
|
|
Plaque Sclerosis
|
Multiple Sclerosis Of The Spinal Cord
|
|
|
| Partial Third-Nerve Palsy |
|
Partial Third Nerve Palsy
|
Third Nerve Palsy With Pupil Sparing
|
|
Third Or Oculomotor Nerve Palsy, Partial
|
Oculomotor Nerve Diseases
|
|
Oculomotor Nerve Paralysis
|
|
|
| Monocular Esotropia |
|
|
| Buschke-Ollendorff Syndrome |
|
BOS
|
Dermatoosteopoikilosis
|
|
Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis
|
Osteopathia Condensans Disseminata
|
|
Dermatofibrosis Lenticularis Disseminata
|
Disseminated Dermatofibrosis With Osteopoikilosis
|
|
Dermatofibrosis, Disseminated, With Osteopoikilosis
|
Osteopoikilosis With Or Without Melorheostosis
|
|
Dermatofibrosis, Disseminated With Osteopoikilosis
|
Dermatofibrosis Disseminata Lenticularis
|
|
Isolated Osteopoikilosis
|
Osteopoikilosis, Isolated
|
|
|
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
EDMD1
|
Emd1
|
|
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
X-Linked Emery-Dreifuss Muscular Dystrophy 1
|
|
Humeroperoneal Neuromuscular Disease
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
|
Scapuloperoneal Syndrome, X-Linked, Formerly
|
Humeroperoneal Neuromuscular Disease, Formerly
|
|
Scapuloperoneal Syndrome, X-Linked
|
Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures
|
|
Scapuloperoneal Syndrome X-Linked
|
X-Edmd
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
|
|
|
| Nonencapsulated Sclerosing Carcinoma |
|
Nonencapsulated Sclerosing Neoplasm
|
Papillary Carcinoma, Diffuse Sclerosing
|
|
|
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
EDMD3
|
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3
|
|
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
|
Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive
|
Emery-Dreifuss Muscular Dystrophy 3
|
|
|
| Neural Tube Defects |
|
Spina Bifida
|
Neural Tube Defect
|
|
NTD
|
Neural Tube Defects, Susceptibility To
|
|
Spinal Dysraphism
|
Spina Bifida, Susceptibility To
|
|
Rachischisis
|
Cleft Spine
|
|
Open Spine
|
Hydrocele Spinalis
|
|
Neural Tube Defect Nos
|
Sb - [Spina Bifida]
|
|
Spinal Hernia Nos
|
Spinal Fissure Nos
|
|
|
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
EDMD4
|
Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
|
Emd4
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant
|
Emery-Dreifuss Muscular Dystrophy 4
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Cardiomyopathy, Dilated, 1h |
|
Dilated Cardiomyopathy 1h
|
Dilated Cardiomyopathy With Conduction Defect
|
|
CMD1H
|
Cardiomyopathy, Dilated, With Conduction Defect
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| Osteopoikilosis |
|
Osteopathia Condensans Disseminata
|
Spotted Bones
|
|
Dermatofibrosis Lenticularis Disseminata
|
|
|
| Burkitt Lymphoma |
|
Burkitt'S Lymphoma
|
BL
|
|
Burkitt Lymphoma, Somatic
|
Burkitt Lymphoma/Leukaemia
|
|
Burkitt'S Tumor
|
Burkitt'S Tumor Or Lymphoma
|
|
Malignant Lymphoma, Burkitt'S Type
|
Small Non-Cleaved Cell Lymphoma, Burkitt'S Type
|
|
Small Non-Cleaved Cell Lymphoma
|
Burkitt Tumor
|
|
Burkitts Lymphoma
|
Lymphoma, Small Noncleaved-Cell
|
|
Burkitt Tumour
|
Diffuse Small Noncleaved Malignant Burkitt Lymphoma
|
|
Malignant Burkitt Lymphoma
|
“Burkitt-Like” Lymphoma
|
|
Undifferentiated Burkitt Lymphoma
|
Small Noncleaved Cell Burkitt Lymphoma
|
|
|
| Hyperoxaluria, Primary, Type I |
|
Primary Hyperoxaluria Type 1
|
HP1
|
|
Glycolic Aciduria
|
Alanine-Glyoxylate Aminotransferase Deficiency
|
|
Hepatic Agt Deficiency
|
Oxalosis I
|
|
Primary Hyperoxaluria, Type I
|
Serine:Pyruvate Aminotransferase Deficiency
|
|
Hyperoxaluria, Primary, Type 1
|
Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
|
|
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency
|
Serine Pyruvate Aminotransferase Deficiency
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Oxalosis 1
|
|
Hyperoxaluria Primary 1
|
Hyperoxaluria Primary Type I
|
|
Ph1
|
Primary Hyperoxaluria Type I
|
|
Oxalosis Type 1
|
2-Oxoglutarate Glyoxylate Carboligase Deficiency
|
|
|
| Cardiomyopathy, Dilated, 1a |
|
Dilated Cardiomyopathy 1a
|
Cdcd1
|
|
CMD1A
|
Cardiomyopathy, Familial Idiopathic
|
|
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
|
Cardiomyopathy, Dilated, With Conduction Defect 1
|
|
Cardiomyopathy, Idiopathic Dilated
|
Cardiomyopathy, Congestive
|
|
Dilated Cardiomyopathy With Conduction Defect 1
|
Cardiomyopathy Dilated With Conduction Defect Type 1
|
|
Cardiomyopathy, Dilated 1a
|
Cardiomyopathy Dilated With Conduction Defect 1
|
|
Cardiomyopathy, Dilated, Type 1a
|
|
|
| Primary Hyperoxaluria |
|
Hyperoxaluria
|
Hyperoxaluria, Primary
|
|
Oxalosis
|
Primary Oxalosis
|
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyceric Aciduria
|
Glycolic Aciduria
|
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
|
Primary Hyperoxaluria, Type I
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Muscle Tissue Disease |
|
|
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Complex Cortical Dysplasia With Other Brain Malformations 6
|
CDCBM6
|
|
Cdcbm56
|
Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 6
|
|
|
| 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
|
|
|
| Systemic Lupus Erythematosus |
|
Lupus Nephritis
|
SLE
|
|
Disseminated Lupus Erythematosus
|
Systemic Lupus Erythematosus, Susceptibility To
|
|
Lupus Erythematosus, Systemic
|
Lupus Nephritis, Susceptibility To
|
|
Libman-Sacks Disease
|
Systemic Lupus Erythematosus Susceptibility To
|
|
Sle - Lupus Erythematosus, Systemic
|
Le Syndrome
|
|
Lupus
|
Lupus Erythematosus Systemic
|
|
Lupus Erythematosus, Systemic, Susceptibility To
|
Lupus Vulgaris
|
|
Lupus Erythematosus, Discoid
|
Lupus Erythematosus
|
|
Systemic Lupus Erythematosus Nos
|
Sle - [Systemic Lupus Erythematosus]
|
|
|
| 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
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
