Diseases |
Alias |
|
Mitochondrial Complex V Deficiency, Nuclear Type 2 |
MC5DN2
|
Mitochondrial Complex V Deficiency Nuclear Type 2
|
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
|
Mitochondrial Complex V Deficiency, Tmem70 Type
|
Neonatal Mitochondrial Encephalocardiomyopathy Due To Atp Synthase Deficiency
|
Mitochondrial Complex V Deficiency, Nuclear Type 2
|
Mitochondrial Complex V Deficiency Tmem70 Type
|
Mitochondrial Complex V Deficiency Type 2
|
Mitochondrial Encephalo-Cardio-Myopathy Due To Tmem70 Deficiency
|
Mitochondrial Neonatal Encephalocardiomyopathy Due To Atp Synthase Deficiency
|
Mitochondrial Complex V Deficiency, Nuclear, Type 2
|
|
|
Isolated Atp Synthase Deficiency |
Isolated Mitochondrial Respiratory Chain Complex V Deficiency
|
|
|
Tmem70 Defect |
Mitochondrial Encephalo-Cardio-Myopathy Due To F1fo Atpase Deficiency
|
Mitochondrial Encephalo-Cardio-Myopathy Due To Isolated Atp Synthase Deficiency
|
Mitochondrial Encephalo-Cardio-Myopathy Due To Isolated Mitochondrial Respiratory Chain Complex V Deficiency
|
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
|
3-Mgca Type Iv
|
|
|
3-Methylglutaconic Aciduria, Type Iv |
3-Methylglutaconic Aciduria Type 4
|
Mga4
|
MGCA4
|
3-Methylglutaconic Aciduria Type Iv
|
Mga, Type Iv
|
Mga Type Iv
|
Not Otherwise Specified 3-Mga-Uria Type
|
3 Alpha Methylglutaconic Aciduria Type Iv
|
3 Methylglutaconic Aciduria Type Iv
|
|
|
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
|
|
|
Mitochondrial Complex V Deficiency, Nuclear Type 5 |
Mitochondrial Complex V Deficiency
|
MC5DN5
|
Mitochondrial Complex V Deficiency, Atp5f1d Type
|
Mitochondrial Complex V Deficiency
|
Mitochondrial Complex 5 Deficiency Nuclear Type 5
|
Complex 5 Mitochondrial Respiratory Chain Deficiency
|
Atp Synthase Deficiency
|
Mitochondrial Complex V Deficiency, Nuclear Type 5
|
Complex V Deficiency
|
|
|
3-Methylglutaconic Aciduria, Type V |
3-Methylglutaconic Aciduria Type 5
|
Mga5
|
MGCA5
|
Dcma
|
Dcma Syndrome
|
Dilated Cardiomyopathy With Ataxia
|
3-Methylglutaconic Aciduria Type V
|
Mga Type V
|
Cardiomyopathy, Dilated, With Ataxia
|
Mga, Type V
|
Dilated Cardiomyopathy With Ataxia Syndrome
|
Dnajc19 Defect
|
3-Methylglutaconic Aciduria 5
|
3-Alpha-Methylglutaconic Aciduria Type 5
|
3-@Methylglutaconic Aciduria, Type V
|
|
|
3-Methylglutaconic Aciduria, Type I |
3-Methylglutaconyl-Coa Hydratase Deficiency
|
3-Methylglutaconic Aciduria Type 1
|
Mga1
|
MGCA1
|
3mg-Coa Hydratase Deficiency
|
Mga Type I
|
Mga, Type I
|
3-Mg-Coa-Hydratase Deficiency
|
3 Methylglutaconyl Coa Hydratase Deficiency
|
3-Methylglutaconic Aciduria Type I
|
3 Alpha Methylglutaconic Aciduria Type I
|
3 Methylglutaconic Aciduria Type 1
|
3-Mgca Type I
|
3mg Coa Hydratase Deficiency
|
Auh Defect
|
Primary 3-Methylglutaconic Aciduria
|
3-Methylglutaconic Aciduria 1
|
3-Alpha-Methylglutaconic Aciduria Type 1
|
3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency
|
3-@Methylglutaconic Aciduria, Type I
|
Megaloblastic Anemia Due To Inborn Errors Of Metabolism
|
|
|
3-Methylglutaconic Aciduria |
3-Methyl Glutaconic Aciduria
|
|
|
Mitochondrial Dna Depletion Syndrome 5 |
Succinate-Coa Ligase Deficiency
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
MTDPS5
|
Booth-Haworth-Dilling Syndrome
|
Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic
|
Mitochondrial Dna Depletion Syndrome-5
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive
|
Mitochondrial Encephalomyopathy Aminoacidopathy
|
Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria
|
Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria
|
Succinate-Coenzyme A Ligase Deficiency
|
Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome
|
Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria
|
Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related
|
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
|
Mitochondrial Dna Depletion Syndrome, Type 5
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Nephrotic Syndrome, Type 2 |
NPHS2
|
Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
|
Srn1
|
Nephrotic Syndrome Type 2
|
Steroid-Resistant Autosomal Recessive Nephrotic Syndrome
|
Nephrotic Syndrome 2
|
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome
|
Srn
|
Nephrotic Syndrome, Type 2, Susceptibility To
|
Idiopathic Nephrotic Syndrome
|
|
|
Barth Syndrome |
3-Methylglutaconic Aciduria Type 2
|
BTHS
|
Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria
|
Mga Type Ii
|
Mga2
|
Mgca2
|
Mga Type 2
|
3-Methylglutaconic Aciduria Type Ii
|
3-Methylglutaconic Aciduria, Type Ii
|
Mga, Type Ii
|
3-Methylglutaconicaciduria Type 2
|
3-Methylglutaconicaciduria Type Ii
|
Taz Defect
|
3 Methylglutaconic Aciduria, Type Ii
|
Dnajc19 Defect
|
Cardioskeletal Myopathy-Neutropenia Syndrome
|
X-Linked Cardioskeletal Myopathy And Neutropenia
|
3-Alpha-Methylglutaconic Aciduria Type 2
|
Agm2
|
Cardioskeletal Myopathy-Neutropenia
|
Invm
|
Left Ventricular Non-Compaction Isolated X-Linked
|
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked
|
Agammaglobulinemia 2, Autosomal Recessive
|
|
|
Encephalopathy, Ethylmalonic |
Ethylmalonic Encephalopathy
|
EE
|
Epema Syndrome
|
Encephalopathy, Petechiae, And Ethylmalonic Aciduria
|
Ethe1 Deficiency
|
Eme
|
Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria
|
|
|
Organic Acidemia |
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
Inherited Organic Acidemia
|
Organic Acidurias
|
Aciduria Organic
|
|
|
3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia |
3-Methylglutaconic Aciduria Type 7
|
Mga7
|
3-Methylglutaconic Aciduria Type Vii
|
Megcann
|
Mgca7
|
3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome
|
3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, And Neutropenia
|
|
|
Mitochondrial Dna Depletion Syndrome |
|
|
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
|
|
|
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
|
|
|
Fumarase Deficiency |
Fumaric Aciduria
|
FMRD
|
Fumarate Hydratase Deficiency
|
Deficiency, Fumarase
|
|
|
Pyruvate Dehydrogenase E1-Alpha Deficiency |
Pyruvate Dehydrogenase Deficiency
|
Pyruvate Dehydrogenase Complex Deficiency
|
Pyruvate Decarboxylase Deficiency
|
Pdh Deficiency
|
PDHAD
|
Pyruvate Dehydrogenase Complex Deficiency Disease
|
Ataxia With Lactic Acidosis I
|
Ataxia With Lactic Acidosis 1
|
Pdh
|
Pdhc
|
Ataxia With Lactic Acidosis
|
Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
|
Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency
|
Deficiency Of Pyruvic Dehydrogenase
|
Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency
|
Pdc Deficiency
|
Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency
|
Pdhc Deficiency
|
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency
|
Ataxia Intermittent With Abnormal Pyruvate Metabolism
|
Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency
|
Pyruvate Dehydrogenase E1 Alpha Deficiency
|
Pdc - [Pyruvate Dehydrogenase Complex] Deficiency
|
Ataxia With Lactic Acidosis 2
|
|
|
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
|
|
|
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
|
|
|
Lactic Acidosis |
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
Left Ventricular Noncompaction |
Noncompaction Cardiomyopathy
|
Left Ventricular Hypertrabeculation
|
Lvnc
|
Spongy Myocardium
|
Isolated Noncompaction Of The Ventricular Myocardium
|
Left Ventricular Myocardial Noncompaction Cardiomyopathy
|
Fetal Myocardium
|
Honeycomb Myocardium
|
Hypertrabeculation Syndrome
|
Left Ventricular Non-Compaction
|
Lvht
|
Non-Compaction Of The Left Ventricular Myocardium
|
Ventricular Noncompaction, Left
|
Non-Compaction Cardiomyopathy
|
|
|
Mitochondrial Encephalomyopathy |
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
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 Myopathy |
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
Myopathies In Mitochondrial Disorders
|
|
|
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
|
|
|
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
|
|
|