Diseases |
Alias |
|
Mitochondrial Dna Depletion Syndrome 8a |
Mitochondrial Dna Depletion Syndrome 8b
|
MTDPS8A
|
Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy
|
Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive
|
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related
|
Rrm2b-Related Mitochondrial Dna Depletion Syndrome
|
Encephalomyopathic Type With Renal Tubulopathy
|
Rrm2b-Mds
|
Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy
|
Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy
|
Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive
|
MTDPS8B
|
Mitochondrial Dna Depletion Syndrome 8b Mngie Type
|
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related
|
Mngie Rrm2b-Related
|
Visceral Myopathy Familial External Ophthalmoplegia
|
Mitochondrial Dna Depletion Syndrome, Type 8a
|
|
|
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
|
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
PEOA5
|
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
|
Progressive External Ophthalmoplegia, Autosomal Dominant 5
|
Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 5
|
Autosomal Dominant Progressive External Ophthalmoplegia 5
|
Progressive External Ophthalmoplegia Autosomal Dominant 5
|
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 5
|
|
|
Autosomal Dominant Progressive External Ophthalmoplegia |
|
|
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
PEOB2
|
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
|
Adult-Onset Cpeo With Mitochondrial Myopathy
|
Progressive External Ophthalmoplegia, Autosomal Recessive 2
|
Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 2
|
Autosomal Recessive Progressive External Ophthalmoplegia 2
|
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Recessive, Type 2
|
|
|
Camptocormism |
Idiopathic Camptocormia
|
Idiopathic Camptocormism
|
Idiopathic Progressive Lumbar Kyphosis
|
Bent Spine Syndrome
|
Bent Spine
|
Camptocormia
|
|
|
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
|
|
|
Mitochondrial Neurogastrointestinal Encephalomyopathy |
Mngie
|
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome
|
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
|
|
|
Mitochondrial Disease |
Mitochondrial Diseases
|
Mitochondrial Disorder
|
|
|
Fanconi Renotubular Syndrome 1 |
Renal Fanconi Syndrome
|
Adult Fanconi Syndrome
|
FRTS1
|
Fanconi Renotubular Syndrome
|
Frts
|
Rfs
|
Fanconi Syndrome Without Cystinosis
|
Luder-Sheldon Syndrome
|
|
|
Mitochondrial Dna Depletion Syndrome |
|
|
Sensorineural Hearing Loss |
Sensory Hearing Loss
|
Sensorineural Deafness
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
Central Hearing Loss
|
High Frequency Deafness
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
Mitochondrial Dna Depletion Syndrome 6 |
Navajo Neurohepatopathy
|
Navajo Neuropathy
|
MTDPS6
|
Nnh
|
Nn
|
Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome
|
Navajo Familial Neurogenic Arthropathy
|
Mpv17-Associated Hepatocerebral Mds
|
Mitochondrial Dna Depletion 6 Hepatocerebral Type
|
Mitochondrial Dna Depletion Syndrome , Type 6
|
|
|
Squamous Cell Carcinoma |
Epidermoid Carcinoma
|
Squamous Cell Cancer
|
Carcinoma, Squamous Cell
|
Squamous Cell Skin Cancer
|
Malignant Squamous Cell Tumor
|
Squamous Carcinoma
|
Squamous Cell Epithelioma
|
Carcinoma Squamous Cell
|
Neoplasms, Squamous Cell
|
Squamous Cell Carcinoma - Category
|
Malignant Squamous Cell Neoplasm
|
Squamous Cell Carcinoma Of Skin
|
|
|
Axonal Neuropathy |
|
|
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
|
|
|
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
SANDO
|
Mitochondrial Recessive Ataxia Syndrome
|
Spinocerebellar Ataxia With Epilepsy
|
Epilepsy, Progressive Myoclonic 5
|
Epm5
|
Miras
|
SCAE
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
|
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions
|
Progressive Myoclonic Epilepsy Type 5
|
Pme Type 5
|
Progressive Myoclonus Epilepsy Type 5
|
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
|
Recessive Mitochondrial Ataxia Syndrome
|
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis
|
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
|
Mscae
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
|
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy
|
Epilepsy, Progressive Myoclonic, 5
|
Ataxia Neuropathy Spectrum
|
|
|
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
|
|
|
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
PEOA4
|
Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4
|
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4
|
Chronic Progressive External Ophthalmoplegia
|
Progressive External Ophthalmoplegia, Autosomal Dominant 4
|
Autosomal Dominant Progressive External Ophthalmoplegia 4
|
Cpeo
|
Graefe Disease
|
Mitochondrial Ocular Myopathy
|
Ocular Myopathy Of Von Graefe-Fuchs
|
Progressive External Ophthalmoplegia Autosomal Dominant 4
|
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4
|
Kearns-Sayre Syndrome
|
|
|
Ptosis |
Blepharoptosis
|
Drooping Eyelid
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
Mitochondrial Dna Depletion Syndrome 7 |
Ohaha Syndrome
|
Infantile Onset Spinocerebellar Ataxia
|
Iosca
|
Infantile-Onset Spinocerebellar Ataxia
|
Spinocerebellar Ataxia 8
|
MTDPS7
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis
|
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
|
Sca8
|
Spinocerebellar Ataxia Infantile With Sensory Neuropathy
|
Spinocerebellar Ataxia, Infantile-Onset
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
|
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy
|
Spinocerebellar Ataxia 8, Formerly
|
Sca8, Formerly
|
Iosca, Mitochondrial Dna Depletion Syndrome 7
|
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
|
Mtdna Depletion Syndrome, Hepatocerebrorenal Form
|
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
|
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis
|
Pure Spinocerebellar Ataxia Japanese Type
|
Sca4 Pure Japanese Type
|
Spinocerebellar Ataxia Infantile-Onset
|
Mitochondrial Dna Depletion Syndrome , Type 7
|
|
|
Lactic Acidosis |
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
Mitochondrial Metabolism Disease |
Abnormality Of Mitochondrial Metabolism
|
Mitochondrial Diseases
|
|
|
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
Mitochondrial Myopathy And Sideroblastic Anemia
|
MLASA1
|
Mlasa
|
Myopathy, Lactic Acidosis And Sideroblastic Anemia
|
Myopathy With Lactic Acidosis And Sideroblastic Anemia
|
Sideroblastic Anemia And Mitochondrial Myopathy
|
Myopathy With Lactic Acidosis And Sideroblastic Anemia 1
|
|
|
Mitochondrial Dna Depletion Syndrome 4a |
Alpers Syndrome
|
Alpers-Huttenlocher Syndrome
|
Alpers Progressive Infantile Poliodystrophy
|
Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
|
Alpers Disease
|
Progressive Sclerosing Poliodystrophy
|
Pndc
|
Diffuse Cerebral Sclerosis Of Schilder
|
MTDPS4A
|
Neuronal Degeneration Of Childhood With Liver Disease, Progressive
|
Alper'S Syndrome
|
Alpers' Disease Or Gray-Matter Degeneration
|
Diffuse Cerebral Degeneration In Infancy
|
Infantile Poliodystrophy
|
Poliodystrophia Cerebri Progressiva
|
Progressive Cerebral Poliodystrophy
|
Alpers' Disease
|
Alpers Progressive Sclerosing Poliodystrophy
|
Progressive Neuronal Degeneration Of Childhood With Liver Disease
|
Ahs
|
Mitochondrial Dna Depletion Syndrome 4a Alpers Type
|
Neuronal Degeneration Of Childhood With Liver Disease Progressive
|
|
|
Mitochondrial Dna Depletion Syndrome 4b |
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
|
Mngie Syndrome
|
Thymidine Phosphorylase Deficiency
|
MTDPS4B
|
Mitochondrial Neurogastrointestinal Encephalopathy Disease
|
Mngie
|
Myoneurogastrointestinal Encephalopathy Syndrome
|
Ogimd
|
Oculogastrointestinal Muscular Dystrophy
|
Polip
|
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction
|
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
|
Mngie, Polg-Related
|
Mepop
|
Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction
|
Mngie Disease
|
Mitochondrial Dna Depletion Syndrome 4b Mngie Type
|
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
|
Mngie Polg-Related
|
Mitochondrial Dna Depletion Syndrome, Type 4b
|
Visceral Myopathy Familial External Ophthalmoplegia
|
|
|
Ocular Motility Disease |
Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
Disorder Of Eye Movements
|
Eye Movement Disorder
|
Eye Movement Disorders
|
|
|
Mitochondrial Myopathy |
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
Myopathies In Mitochondrial Disorders
|
|
|
Moebius Syndrome |
Mobius Syndrome
|
Moebius Sequence
|
Oromandibular-Limb Hypogenesis Spectrum
|
Congenital Facial Diplegia
|
MBS
|
Moebius Congenital Oculofacial Paralysis
|
Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves
|
Congenital Facial Diplegia Syndrome
|
Congenital Oculofacial Paralysis
|
Congenital Ophthalmoplegia And Facial Paresis
|
Moebius Spectrum
|
Möbius Sequence
|
Möbius Syndrome
|
Mobius Ii Syndrome
|
|
|
3-Methylglutaconic Aciduria, Type Iii |
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
Costeff Syndrome
|
Mga3
|
Costeff Optic Atrophy Syndrome
|
Optic Atrophy Plus Syndrome
|
Infantile Optic Atrophy With Chorea And Spastic Paraplegia
|
3-Methylglutaconic Aciduria Type Iii
|
Autosomal Recessive Optic Atrophy Plus Syndrome
|
Autosomal Recessive Optic Atrophy Type 3
|
Opa3 Defect
|
MGCA3
|
Mga, Type Iii
|
Iraqi Jewish Optic Atrophy Plus
|
Mga Type Iii
|
Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
|
Iraqi-Jewish 'Optic Atrophy Plus'
|
Optic Atrophy 3, Autosomal Recessive
|
Opa3, Autosomal Recessive
|
Opa3-Related 3-Methylglutaconic Aciduria
|
Iraqi-Jewish Optic Atrophy Plus
|
Atrophy Of Optic Disc
|
3-Alpha Methylglutaconic Aciduria Type Iii
|
Optic Atrophy 3
|
Optic Atrophy Infantile With Chorea And Spastic Paraplegia
|
Autosomal Recessive Opa3
|
Autosomal Recessive Optic Atrophy 3
|
3-Methylglutaconic Aciduria 3
|
3-Alpha-Methylglutaconic Aciduria Type 3
|
Optic Atrophy 3 Autosomal Recessive
|
Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
Second Cranium Nerve Atrophy
|
|
|
Myopathy |
Muscular Diseases
|
Myopathies
|
|
|
Mitochondrial Encephalomyopathy |
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|