| Diseases |
Alias |
|
| Mitochondrial Complex I Deficiency, Mitochondrial Type 1 |
|
MC1DM1
|
Mitochondrial Type Mitochondrial Complex I Deficiency 1
|
|
Mitochondrial Complex 1 Deficiency, Mitochondrial Type 1
|
|
|
| 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
|
|
|
| Mitochondrial Dna-Associated Leigh Syndrome And Narp |
|
Mtdna-Associated Leigh Syndrome Narp
|
|
|
| Leber Optic Atrophy And Dystonia |
|
LDYT
|
Marsden Syndrome
|
|
Leber Hereditary Optic Neuropathy With Dystonia
|
Leber Hereditary Optic Neuropathy And Dystonia
|
|
Familial Dystonia With Visual Failure And Striatal Lucencies
|
Dystonia, Familial, With Visual Failure And Striatal Lucencies
|
|
Leber Optic Atrophy With Dystonia
|
Dystonia Familial, With Visual Failure And Striatal Lucencies
|
|
Lhon And Dystonia
|
Leber'S Hereditary Optic Neuropathy With Dystonia
|
|
|
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Mils
|
Maternally Inherited Leigh Syndrome
|
|
Leigh Disease, Maternally Inherited
|
Subacute Necrotizing Encephalomyelopathy Maternally Inherited
|
|
Maternally-Inherited Leigh Disease
|
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy
|
|
Mtdna-Associated Leigh Syndrome
|
|
|
| Mitochondrial Disease |
|
Mitochondrial Diseases
|
Mitochondrial Disorder
|
|
|
| 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
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| Hereditary Optic Neuropathy |
|
|
| Diphyllobothriasis |
|
Diphyllobothrium Infection
|
Fish Tapeworm
|
|
Bothriocephalosis
|
Infection By Bothriocephalus
|
|
Fish Tapeworm Infection
|
Dibothriocephalus Anaemia
|
|
Dibothriocephaliasis
|
Broad Tapeworm Infection
|
|
Bothriocephaliasis
|
Dibothriocephalus
|
|
Intestinal Diphyllobothriasis
|
Diphyllobothrium Infestation
|
|
Dibothriocephalus Infestation
|
Bothriocephalus Infestation
|
|
Adult Diphyllobothrium Infection
|
Tapeworm Anaemia
|
|
Infection By Diphyllobothrium Larvae
|
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| Cortical Deafness |
|
|
| Sparganosis |
|
Infection By Sparganum
|
Larval Diphyllobothriasis
|
|
Spirometrosis
|
Infection By Spirometra Larvae
|
|
Larval Dibothriocephaliasis
|
Sparganosis - Larval Diphyllobothriasis
|
|
Spirometriosis
|
Larval Dibothriocephalus Infestation
|
|
Larval Diphyllobothrium Infestation
|
Larval Dibothriocephalus
|
|
Infection Due To Sparganum
|
Larval Fish Tapeworm Infection
|
|
Spirometra Larvae Infestation
|
Sparganum Infestation
|
|
Larval Bothriocephalus Infestation
|
|
|
| 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
|
|
|
| Parathyroid Oncocytic Adenoma |
|
Parathyroid Gland Oncocytic Adenoma
|
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
MC1DN16
|
Nuclear Type Mitochondrial Complex I Deficiency 16
|
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 16
|
|
|
| Machado-Joseph Disease |
|
SCA3
|
MJD
|
|
Spinocerebellar Ataxia 3
|
Azorean Disease
|
|
Spinocerebellar Ataxia Type 3
|
Spinocerebellar Atrophy
|
|
Azorean Neurologic Disease
|
Spinopontine Atrophy
|
|
Nigrospinodentatal Degeneration
|
Spinocerebellar Atrophy Iii
|
|
Spinocerebellar Atrophy Type 3
|
Azorean Ataxia
|
|
Azorean Disease Of The Nervous System
|
Machado Disease
|
|
Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia
|
Disease, Machado-Joseph
|
|
Ataxia, Spinocerebellar
|
|
|
| Mitochondrial Metabolism Disease |
|
Abnormality Of Mitochondrial Metabolism
|
Mitochondrial Diseases
|
|
|
| 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
|
|
|
| Progressive Myoclonus Epilepsy 9 |
|
Emp9
|
Pme Type 9
|
|
Progressive Myoclonic Epilepsy Due To Lmnb2 Deficiency
|
Progressive Myoclonus Epilepsy Type 9
|
|
|
| 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
|
|
|
| Male Infertility |
|
Infertility, Male
|
Infertility Male
|
|
Male Sterility
|
Absolute Infertility
|
|
|
| Ancylostomiasis |
|
Ankylostomiasis
|
Hookworm Infection
|
|
Hookworm Infections
|
Ancylostomiasis Due To Ancylostoma Duodenale
|
|
Ancylostoma Duodenale Infection
|
|
|
| Dicrocoeliasis |
|
Disease Due To Dicrocoeliidae
|
Lancet Fluke Infection
|
|
Dicroceliosis
|
Lancet Fluke Disease
|
|
Lancet Fluke Infestation
|
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| 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
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| 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
|
|
|
| Leukodystrophy |
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| Cranial Nerve Disease |
|
Cranial Nerve Disorder
|
Disorder Of Cranial Nerve
|
|
Cranial Nerve Diseases
|
|
|
| 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
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| 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
|
|
|
| Early Myoclonic Encephalopathy |
|
Myoclonic Epilepsy
|
Myoclonic Seizure
|
|
Epilepsies, Myoclonic
|
Epileptic Seizures - Myoclonic
|
|
Epileptic Seizures, Myoclonic
|
Myoclonia Epileptica
|
|
Myoclonic Seizure Disorder
|
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
|
| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| 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
|
|
|
