| Diseases |
Alias |
|
| 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
|
|
|
| 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 Disease |
|
Mitochondrial Diseases
|
Mitochondrial Disorder
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| Hereditary Optic Neuropathy |
|
|
| Neuropathy |
|
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
| 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
|
|
|
| Deafness, Nonsyndromic Sensorineural, Mitochondrial |
|
Mitochondrial Non-Syndromic Sensorineural Hearing Loss
|
Mitochondrial Nonsyndromic Sensorineural Deafness
|
|
Mitochondrial Non-Syndromic Sensorineural Deafness
|
Isolated Mitochondrial Neurosensory Deafness
|
|
Isolated Mitochondrial Neurosensory Hearing Loss
|
Isolated Mitochondrial Sensorineural Deafness
|
|
Isolated Mitochondrial Sensorineural Hearing Loss
|
Mitochondrial Non-Syndromic Neurosensory Deafness
|
|
Mitochondrial Non-Syndromic Neurosensory Hearing Loss
|
Deafness, Sensorineural, Mitochondrial
|
|
DFNM
|
|
|
| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
| 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
|
|
|
| Cortical Blindness |
|
|
| Cranial Nerve Disease |
|
Cranial Nerve Disorder
|
Disorder Of Cranial Nerve
|
|
Cranial Nerve Diseases
|
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| Optic Neuritis |
|
Inflammatory Optic Neuropathy
|
|
|
| Colon Neuroendocrine Neoplasm |
|
Colonic Neuroendocrine Tumor
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| 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
|
|
|
| Toxascariasis |
|
|
| 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
|
|
|
| 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
|
|
|
| Scotoma |
|
Enlarged Blind Spot
|
Scotoma Of Blind Spot Area
|
|
Blind Spot Area Scotoma
|
Enlarged Angioscotoma
|
|
Enlarged Paracaecal Scotoma
|
Generalized Visual Field Contraction Or Constriction
|
|
Sector Or Arcuate Visual Field Defects
|
|
|
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic Atrophy 7
|
OPA7
|
|
Autosomal Recessive Optic Atrophy, Opa7 Type
|
Optic Atrophy-7
|
|
Atrophy, Optic, Type 7, With/Without Auditory Neuropathy
|
|
|
| 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
|
|
|
| Toxic Optic Neuropathy |
|
|
| 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
|
|
|
| Coenurosis |
|
|
| Chagas Disease |
|
American Trypanosomiasis
|
Chagas' Disease
|
|
Chagas' Disease With Digestive System Involvement
|
Chagas' Disease With Nervous System Involvement
|
|
Chagas' Disease With Other Organ Involvement
|
Infection Due To Trypanosoma Cruzi
|
|
South American Trypanosomiasis
|
Chronic Chagas Disease With Digestive System Involvement
|
|
|
| Deafness, Aminoglycoside-Induced |
|
Streptomycin Ototoxicity
|
Deafness, Mitochondrial, Modifier Of
|
|
Aminoglycoside-Induced Deafness
|
Deafness, Streptomycin-Induced
|
|
Streptomycin-Induced Deafness
|
DFNI
|
|
|
| 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
|
|
|
| Pediculus Humanus Capitis Infestation |
|
Pediculosis Capitis
|
Pediculus Capitis Infestation
|
|
Head Louse Infestation
|
Pediculus Capitis
|
|
Head-Louse Infestation
|
Head Lice
|
|
Infestation By Pediculus Capitis
|
|
|
| Nutritional Optic Neuropathy |
|
|
| Mitochondrial Metabolism Disease |
|
Abnormality Of Mitochondrial Metabolism
|
Mitochondrial Diseases
|
|
|
| Acute Retrobulbar Neuritis |
|
Retrobulbar Neuritis
|
Retrobulbar Optic Neuritis
|
|
|
| Ancylostomiasis |
|
Ankylostomiasis
|
Hookworm Infection
|
|
Hookworm Infections
|
Ancylostomiasis Due To Ancylostoma Duodenale
|
|
Ancylostoma Duodenale Infection
|
|
|
| Pediculus Humanus Corporis Infestation |
|
Body Louse Infestation
|
Pediculus Corporis
|
|
Pediculus Humanus Infestation
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Retinitis Pigmentosa 38 |
|
RP38
|
Rod-Cone Dystrophy, Childhood-Onset
|
|
Retinitis Pigmentosa, Type 38
|
|
|
| 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 Complex I Deficiency, Nuclear Type 16 |
|
MC1DN16
|
Nuclear Type Mitochondrial Complex I Deficiency 16
|
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 16
|
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| Drug-Induced Hearing Loss |
|
Drug Induced Hearing Loss
|
|
|
| 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
|
|
|
| Neonatal Period Electroclinical Syndrome |
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| 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
|
|
|
| Autism Spectrum Disorder |
|
Asd
|
Autism Spectrum Disorders
|
|
Autistic Continuum
|
Pervasive Developmental Disorder
|
|
Pervasive Development Disorder
|
Autistic Behavior
|
|
Autistic Disorder
|
Autistic
|
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
|
Childhood Autism
|
Kanner Syndrome
|
|
Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| 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
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
