| Diseases |
Alias |
|
| Cardiomyopathy, Infantile Hypertrophic |
|
Infantile Hypertrophic Cardiomyopathy
|
CMHI
|
|
|
| Periodic Paralysis With Later-Onset Distal Motor Neuropathy |
|
|
| Cardiomyopathy, Infantile Histiocytoid |
|
Histiocytoid Cardiomyopathy
|
Foamy Myocardial Transformation Of Infancy
|
|
Infantile Histiocytoid Cardiomyopathy
|
Infantile Xanthomatous Cardiomyopathy
|
|
Oncocytic Cardiomyopathy
|
Cardiomyopathy, Infantile Xanthomatous
|
|
Cardiomyopathy, Focal Lipid
|
Cardiomyopathy, Oncocytic
|
|
Focal Lipid Cardiomyopathy
|
Infantile Cardiomyopathy With Histiocytoid Change
|
|
CMIH
|
Cardiomyopathy Focal Lipid
|
|
Cardiomyopathy Infantile Xanthomatous
|
Cardiomyopathy Oncocytic
|
|
|
| Aortic Valve Disease 1 |
|
Aortic Valve Disease
|
Bicuspid Aortic Valve
|
|
Aortic Valve Disorder
|
AOVD1
|
|
Bav
|
Bicuspid Aortic Valve Disease
|
|
Familial Bicuspid Aortic Valve
|
Aortic Valve Calcification
|
|
Aovd
|
Aortic Valve, Bicuspid
|
|
Aortic Valve, Calcification Of
|
Aortic Stenosis, Calcific
|
|
Familial Bav
|
Calcific Aortic Stenosis
|
|
Calcification Of Aortic Valve
|
Abnormality Of The Aortic Valve
|
|
Aortic Valve Disease, Type 1
|
Aortic Valve Disease 2
|
|
Bicommissural Aortic Valve
|
|
|
| Isolated Atp Synthase Deficiency |
|
Isolated Mitochondrial Respiratory Chain Complex V Deficiency
|
|
|
| Kearns-Sayre Syndrome |
|
Ophthalmoplegia
|
Mitochondrial Cytopathy
|
|
KSS
|
Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
|
Oculocraniosomatic Syndrome
|
Chronic Progressive External Ophthalmoplegia With Myopathy
|
|
Cpeo With Myopathy
|
Total Ophthalmoplegia
|
|
Ophthalmoplegia-Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
|
|
Cpeo With Ragged-Red Fibers
|
Oculomotor Paralysis
|
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
|
|
Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
|
Cpeo With Ragged Red Fibers
|
|
Ophthalmoplegia Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged Red Fibers
|
|
Kearns-Sayre Mitochondrial Cytopathy
|
Mitochondrial Myopathies
|
|
|
| Optic Nerve Disease |
|
Optic Neuropathy
|
Disorder Of The Second Nerve
|
|
Optic Nerve Disorder
|
Optic Nerve
|
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
| Deficiency Anemia |
|
Anemia
|
Deficiency Anemias
|
|
Anaemia
|
|
|
| Mitochondrial Disease |
|
Mitochondrial Diseases
|
Mitochondrial Disorder
|
|
|
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Narp Syndrome
|
NARP
|
|
Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa
|
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome
|
|
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome
|
Neuropathy, Ataxia And Retinitis Pigmentosa
|
|
Neuropathy Ataxia Retinitis Pigmentosa Syndrome
|
Neuropathy, Ataxia, And Retinitis Pigmentos
|
|
Neuropathy Ataxia And Retinitis Pigmentosa
|
Neuropathy, Ataxia, Retinitis Pigmentosa
|
|
Neuropathy Ataxia And Retinis Pigmentosa
|
Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome
|
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
MRD30
|
Mental Retardation, Autosomal Dominant 30
|
|
Intellectual Developmental Disorder, Autosomal Dominant 30
|
Autosomal Dominant Non-Syndromic Intellectual Disability 30
|
|
Autosomal Dominant Intellectual Developmental Disorder 30
|
Autosomal Dominant Mental Retardation 30
|
|
Mental Retardation, Autosomal Dominant, Type 30
|
|
|
| Acanthocephaliasis |
|
|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Leigh Syndrome, French Canadian Type
|
Mitochondrial Complex V Deficiency Nuclear Type 4
|
|
Cytochrome C Oxidase Deficiency, French Canadian Type
|
Lsfc
|
|
Cox Deficiency, French Canadian Type
|
MC5DN4
|
|
MC4DN5
|
Cox Deficiency, Saguenay-Lac-Saint-Jean Type
|
|
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type
|
Mitochondrial Complex V Deficiency, Nuclear Type 4
|
|
French Canadian Leigh Disease
|
Leigh Syndrome, French-Canadian Type
|
|
Leigh Syndrome , French Canadian Type
|
Mitochondrial Complex V Deficiency, Atp5a1 Type
|
|
French Canadian Type Cox Deficiency
|
French Canadian Type Cytochrome C Oxidase Deficiency
|
|
French Canadian Type Leigh Syndrome
|
Saguenay Lac Saint Jean Type Cox Deficiency
|
|
Saguenay Lac Saint Jean Type Leigh Syndrome
|
Cox Deficiency, Saguenay Lac Saint Jean Type
|
|
Leigh Syndrome, Saguenay Lac Saint Jean Type
|
Mitochondrial Complex V Deficiency, Nuclear Type 4
|
|
Mitochondrial Complex V Deficiency Atp5a1 Type
|
Mitochondrial Complex V Deficiency Type 4
|
|
Mitochondrial Complex V Deficiency, Nuclear, Type 4
|
|
|
| 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
|
|
|
| Gnathomiasis |
|
Gnathostomiasis
|
Infectious Disease By Gnathostoma
|
|
Gnathostomosis
|
Wandering Swelling
|
|
|
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
|
COB1
|
|
Coloboma-Microphthalmos Syndrome
|
Coloboma-Microphthalmos Syndrome Associated With Sensorineural Hearing Loss, Hematuria, And Cleft Lip/Palate
|
|
Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome
|
Ocular Coloboma With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
|
|
Uveal Coloboma-Cleft Lip/Palate-Mental Retardation Syndrome
|
Uveal Coloboma-Cleft Lip/Palate-Intellectual Disability Syndrome
|
|
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Intellectual Disability
|
Coloboma, Ocular, With/Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
|
|
|
| Parkinson Disease 4, Autosomal Dominant |
|
Autosomal Dominant Parkinson Disease 4
|
PARK4
|
|
Parkinson Disease 4, Autosomal Dominant Lewy Body
|
Parkinson Disease 4
|
|
Parkinson'S Disease 4
|
Autosomal Dominant Lewy Body Parkinson Disease 4
|
|
Autosomal Dominant Parkinson'S Disease 4
|
Parkinson Disease 4 Autosomal Dominant Lewy Body
|
|
Parkinson Disease Autosomal Dominant 4
|
Parkinson Disease Familial Type 4
|
|
Parkinson Disease, Type 4
|
|
|
| Hypertrophic Cardiomyopathy |
|
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
| 3-Methylglutaconic Aciduria |
|
3-Methyl Glutaconic Aciduria
|
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber Optic Atrophy
|
Leber Hereditary Optic Neuropathy
|
|
LHON
|
Leber'S Hereditary Optic Neuropathy
|
|
Leber Optic Atrophy, Susceptibility To
|
Leber'S Optic Atrophy
|
|
LOAM
|
Loas
|
|
Leber'S Disease
|
Leber'S Optic Neuropathy
|
|
Optic Atrophy, Hereditary, Leber
|
Lhon, Modifier Of
|
|
Optic Atrophy, Leber Type
|
Hereditary Optic Neuroretinopathy
|
|
Leber Hereditary Optic Atrophy
|
Loa
|
|
Optic Atrophy Leber Type
|
Leber Hereditary Optic Neuropathy, Modifier
|
|
Leber Hereditary Optic Neuropathy Susceptibility
|
Modifier Of Leber Hereditary Optic Neuropathy
|
|
Lebers Hereditary Optic Neuropathy
|
Leber Congenital Amaurosis
|
|
|
| Chronic Progressive External Ophthalmoplegia |
|
Progressive External Ophthalmoplegia
|
Cpeo
|
|
Peo
|
Ophthalmoplegia, Chronic Progressive External
|
|
Ophthalmoplegia, External, Progressive, Chronic
|
Graefe Disease
|
|
Peo - [Progressive External Ophthalmoplegia]
|
Ophthalmoplegia Plus Syndrome
|
|
|
| Pearson Marrow-Pancreas Syndrome |
|
Pearson Syndrome
|
Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction
|
|
Pearson'S Marrow/Pancreas Syndrome
|
Pearson'S Syndrome
|
|
Pearson'S Marrow-Pancreas Syndrome
|
|
|
| Cercarial Dermatitis |
|
Swimmer'S Itch
|
Cutaneous Schistosomiasis
|
|
Sea Bather'S Eruption
|
Clam-Digger'S Itch
|
|
Rice-Paddy Itch
|
Sea Bather'S Itch
|
|
Sawah Itch
|
Schistosomal Cercarial Dermatitis
|
|
|
| Hermaphroditism |
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Melas Syndrome
|
MELAS
|
|
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
|
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
|
|
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
|
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Merrf Syndrome
|
MERRF
|
|
Fukuhara Syndrome
|
Myoclonic Epilepsy Associated With Ragged Red Fibers
|
|
Myoencephalopathy Ragged-Red Fiber Disease
|
Myoclonic Epilepsy - Ragged Red Fibers
|
|
Myoclonus Epilepsy And Ragged Red Fibers
|
Myoclonus With Epilepsy And With Ragged Red Fibers
|
|
Myoclonic Epilepsy With Ragged Red Fibers
|
Myoclonic Epilepsy With Ragged-Red Fibers
|
|
Fukuhara Disease
|
Myoclonus Epilepsy Associated With Ragged-Red Fibres
|
|
Myoclonus With Epilepsy With Ragged Red Fibers
|
|
|
| Leigh Syndrome |
|
Leigh Disease
|
Infantile Subacute Necrotizing Encephalopathy
|
|
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
|
LS
|
|
Sne
|
Leigh'S Disease
|
|
Leigh Syndrome Due To Mitochondrial Complex I Deficiency
|
Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
|
|
Subacute Necrotizing Encephalomyelopathy
|
Necrotizing Encephalopathy Infantile Subacute Of Leigh
|
|
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
|
Infantile Necrotizing Encephalomyelopathy
|
|
Juvenile Subacute Necrotizing Encephalomyelopathy
|
Leigh'S Necrotizing Encephalopathy
|
|
Subacute Necrotizing Encephalopathy
|
Juvenile Subacute Necrotizing Encephalopathy
|
|
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
|
Leigh Syndrome Due To Mitochondrial Complex V Deficiency
|
|
Encephalopathy, Subacute Necrotizing, Infantile
|
Encephalopathy, Subacute Necrotizing, Juvenile
|
|
Maternally Inherited Leigh Syndrome
|
Subacute Necrotising Encephalomyelopathy
|
|
Subacute Necrotising Encephalopathy
|
|
|
| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Mitochondrial Complex I Deficiency
|
Nadh:Q(1) Oxidoreductase Deficiency
|
|
MC1DN1
|
Nadh-Coenzyme Q Reductase Deficiency
|
|
Isolated Mitochondrial Respiratory Chain Complex I Deficiency
|
Isolated Nadh-Coenzyme Q Reductase Deficiency
|
|
Isolated Nadh-Coq Reductase Deficiency
|
Isolated Nadh-Ubiquinone Reductase Deficiency
|
|
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of
|
Nuclear Type Mitochondrial Complex I Deficiency 1
|
|
Isolated Complex I Deficiency
|
Complex 1 Mitochondrial Respiratory Chain Deficiency
|
|
Nadh Coenzyme Q Reductase Deficiency
|
Complex I Mitochondrial Respiratory Chain Deficiency
|
|
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I
|
Nadh:Ubiquinone Oxidoreductase Deficiency
|
|
Complex I, Mitochondrial Respiratory Chain, Deficiency Of
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
