POLG - DNA polymerase gamma, catalytic subunit Gene

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

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

PEOB1

Autosomal Recessive Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia, Autosomal Recessive 1

Arpeo

Chronic Progressive External Ophthalmoplegia

Autosomal Recessive Progressive External Ophthalmoplegia 1

Cerebellar Ataxia Infantile With Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia With Cerebellar Ataxia Infantile

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive, 1

Cpeo

Graefe Disease

Mitochondrial Ocular Myopathy

Ocular Myopathy Of Von Graefe-Fuchs

Progressive External Ophthalmoplegia Autosomal Recessive

Progressive External Ophthalmoplegia, Autosomal Recessive

Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Recessive, Type 1

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive

Kearns-Sayre Syndrome

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

PEOA1

Autosomal Dominant Progressive External Ophthalmoplegia 1

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1

Chronic Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia, Autosomal Dominant 1

Cpeo

Graefe Disease

Mitochondrial Ocular Myopathy

Ocular Myopathy Of Von Graefe-Fuchs

Progressive External Ophthalmoplegia Autosomal Dominant

Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1

Kearns-Sayre Syndrome

Spinocerebellar Ataxia With Epilepsy

Scae

Memsa

Mscae

Mitochondrial Spinocerebellar Ataxia With Epilepsy

Mngie

Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Polg- Related Disorder

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Mchs

Childhood Myocerebrohepatopathy Spectrum Disorders

MTDPS1

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related

Myoneurogastrointestinal Encephalopathy Syndrome

Polip Syndrome

Mitochondrial Dna Depletion Syndrome, Type 1

Mngie, Tymp-Related

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction

Mitochondrial Dna Depletion Syndrome 1, Mngie Type

Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related

Myoneurogastrointestinal Encephalomyopathy

Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Idiopathic Camptocormia

Idiopathic Camptocormism

Idiopathic Progressive Lumbar Kyphosis

Bent Spine Syndrome

Bent Spine

Camptocormia

Fanconi Anemia Complementation Group I

FANCI

MRX108

X-Linked Intellectual Developmental Disorder 108

Mental Retardation, X-Linked 108

Mental Retardation, X-Linked, Type 108

Mitochondrial Diseases

Mitochondrial Disorder

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

Adpeo

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Mtdna Depletion Syndrome

Progressive External Ophthalmoplegia

Cpeo

Peo

Ophthalmoplegia, Chronic Progressive External

Ophthalmoplegia, External, Progressive, Chronic

Graefe Disease

Peo - [Progressive External Ophthalmoplegia]

Ophthalmoplegia Plus Syndrome

Grand Mal Status Epilepticus

Grand Mal Status

Gcse

Generalized Convulsive Status Epilepticus

Se

Epilepsy With Status Epilepticus

Fulminant Hepatic Failure

Acute Hepatic Failure

Liver Failure Acute

Hepatic Failure Fulminant

Liver Failure, Acute

Coenzyme Q10 Deficiency

Coq10 Deficiency

Primary Coenzyme Q10 Deficiency

Coenzyme Q Deficiency

Coq Deficiency

Primary Coq10 Deficiency

Ubiquinone Deficiency

Coenzyme Q10 Deficiency, Primary

Coq10 Deficiency, Primary

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Peripheral Neuropathy

Peripheral Neuropathies

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Blindness, Cortical

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Acidosis, Lactic

Acidosis Lactic

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Muscular Diseases

Myopathies

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Chronic Intestinal Pseudoobstruction

Chronic Intestinal Pseudo-Obstruction

Cipo

Neuronal Intestinal Dysplasia

Hollow Visceral Myopathy

Familial Visceral Neuropathy

Paralytic Ileus

Intestinal Pseudoobstruction

Chronic Idiopathic Intestinal Pseudo-Obstruction

Ciip

Congenital Short Bowel Syndrome

Enteric Neuropathy

Familial Visceral Myopathy

Ipo

Pseudo-Obstruction Of Intestine

Pseudointestinal Obstruction Syndrome

Pseudoobstructive Syndrome

Congenital Idiopathic Intestinal Pseudoobstruction

Visceral Myopathy, Familial

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

Ocular Motility Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

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

Polyneuropathies

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

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

Vertigo Of Central Origin

Vertigo

Central Vestibular Vertigo

Visual Cortex Dysfunction

Visual Cortex Disorder

Visual Cortical Disorder

Disease Of Visual Cortex

Spinocerebellar Ataxia Type 20

SCA20

Spinocerebellar Ataxia With Dysphonia

Spinocerebellar Ataxia With Spasmodic Cough

Chromosome 11q12 Duplication Syndrome, 260-Kb

Chromosome 11q12 Duplication Syndrome 260-Kb

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

Epilepsy, Partial, Motor

Epilepsy, Focal Motor

Focal Motor Seizure

Disorder Of Visual Pathways

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

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

DEE47

Epileptic Encephalopathy, Early Infantile, 47

Eiee47

Developmental And Epileptic Encephalopathy, 47

Early Infantile Epileptic Encephalopathy 47

Ophthalmoplegia Internuclearis

Bielschowsky-Lutz-Cogan Syndrome

Ino - [Internuclear Ophthalmoplegia]

Lhermitte Syndrome

Mlf - [Medial Longitudinal Fasciculus] Syndrome

Internuclear Paralysis

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

Hereditary Sensory And Autonomic Neuropathy Type 2

Hsan2

HSAN2A

Morvan Disease

Hereditary Sensory And Autonomic Neuropathy Type Ii

Neurogenic Acroosteolysis

Hsan Iia

Hsn2a

Hsn Iia

Neuropathy, Progressive Sensory, Of Children

Neuropathy, Congenital Sensory

Neuropathy, Hereditary Sensory And Autonomic, Type Ii

Hereditary Sensory And Autonomic Neuropathy Type 2a

Hereditary Sensory And Autonomic Neuropathy Type Iia

Hsanii

Congenital Sensory Neuropathy

Hsan Type Ii

Morvan Syndrome

Neuropathy, Hereditary Sensory And Autonomic, Type 2a

Morvan'S Disease

Neuropathy, Hereditary Sensory, Type Iia

Acroosteolysis, Neurogenic

Acroosteolysis, Giaccai Type

Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

Hereditary Sensory Autonomic Neuropathy Type 2

Giaccai Type Acroosteolysis

Hereditary Sensory Neuropathy Type 2

Hereditary Sensory Radicular Neuropathy, Recessive Form

Hsan2b

Hsan2c

Hsan2d

Hsn Type Ii

Autosomal Recessive Sensory Radicular Neuropathy

Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

Morvan Fibrillary Chorea

Neuropathy, Hereditary Sensory And Autonomic, 2a

Acroosteolysis Giaccai Type

Hereditary Sensory Neuropathy Type Iia

Hereditary Sensory Radicular Neuropathy Autosomal Recessive

Progressive Sensory Neuropathy Of Children

Neuropathy Congenital Sensory

Charcot-Marie-Tooth Disease

Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

Hereditary Sensory Autonomic Neuropathy, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Sensory Neuropathy, Hereditary

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Cranial Nerve Disorder

Disorder Of Cranial Nerve

Cranial Nerve Diseases

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

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

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

Friedreich Ataxia 1

FRDA

Friedreich Ataxia With Retained Reflexes

Frda1

Fa

Friedreich'S Ataxia

Hereditary Spinal Ataxia

Fa1

Friedreich'S Tabes

Hereditary Spinal Sclerosis

Spinocerebellar Ataxia, Friedreich

Friedreich Spinocerebellar Ataxia

Friedrich'S Ataxia

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

3-Methyl Glutaconic Aciduria

Marinesco-Sjögren Syndrome

MSS

Marinesco-Garland Syndrome

Garland-Moorhouse Syndrome

Hereditary Oligophrenic Cerebello-Lental Degeneration

Oligophrenic Cerebellolenticular Degeneration

Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism

Marinesco-Sjogren Syndrome-Myopathy

Marinesco-Sjogren-Garland Syndrome

Marinesco-Sjoegren Syndrome

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Deoxyguanosine Kinase Deficiency

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

MTDPS3

Dguok Deficiency

Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Dguok-Related Mitochondrial Dna Depletion Syndrome

Hepatocerebral Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome, Hepatocerebral Form

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency

Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive

Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type

Mitochondrial Dna Depletion Syndrome , Type 3

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

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

COXPD33

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

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

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

Arca1

Autosomal Recessive Cerebellar Ataxia Type 1

SCAR8

Autosomal Recessive Spinocerebellar Ataxia 8

Autosomal Recessive Ataxia, Beauce Type

Recessive Ataxia Of Beauce

Syne1-Related Autosomal Recessive Cerebellar Ataxia

Ataxia, Recessive, Of Beauce

Cerebellar Ataxia, Autosomal Recessive, Type 1

Spinocerebellar Ataxia Autosomal Recessive 8

Autosomal Recessive Ataxia Beauce Type

Spinocerebellar Ataxia, Autosomal Recessive, 8

Ataxia Recessive Of Beauce

Ataxia, Spinocerebellar, Autosomal Recessive, Type 8

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Giant Axonal Neuropathy

Giant Axonal Neuropathy 1

Gan

GAN1

Giant Axonal Neuropathy-1

Neuropathy, Giant Axonal

Giant Axonal Disease

Neuropathy, Axonal, Giant, Type 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Mitochondrial Complex Iii Deficiency Nuclear Type 2

MC3DN2

Mitochondrial Complex Ii Deficiency, Nuclear Type 3

MC2DN3

Mitochondrial Complex 2 Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency, Nuclear 2

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

Proximal Myopathy With Extrapyramidal Signs

MPXPS

Myopathy, With Extrapyramidal Signs

MADD

Ethylmalonic-Adipicaciduria

Ema

Glutaric Acidemia Iia

Glutaric Acidemia Iib

Ga Ii

Glutaric Acidemia Iic

Glutaric Acidemia Type 2

Glutaric Acidemia Ii

Glutaric Aciduria Ii

Electron Transfer Flavoprotein Deficiency

Glutaric Aciduria Type 2

Mad Deficiency

Glutaric Acidemia Type Ii

Glutaric Aciduria 2

Etfa Deficiency

Etfb Deficiency

Etfdh Deficiency

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Ga2

Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

Electron Transfer Flavoprotein Dehydrogenase Deficiency

Ga 2

Glutaric Acidemia 2

Glutaric Acidemia, Type 2

Glutaric Aciduria, Type 2

Mad

Multiple Fad Dehydrogenase Deficiency

Ethylmalonic Adipic Aciduria

Glutaricaciduria Ii

Glutaric Aciduria 2a

GA2A

Gaiia

Glutaricaciduria Iia

Glutaric Aciduria 2b

GA2B

Gaiib

Glutaricaciduria Iib

Glutaric Aciduria 2c

GA2C

Gaiic

Glutaricaciduria Iic

Glutaricaciduria, Type Iia

Glutaric Acidemia Type 2a

Glutaric Acidemia Type 2c

Glutaric Aciduria Iia

Glutaric Aciduria Iib

Glutaric Aciduria Iic

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Movement Disorders

Movement Disorder

Chorea

Hereditary Chorea

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

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

Encephalopathy, Developmental And Epileptic

Spax

Ataxia, Spastic

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

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