疾病名称 |
别名 |
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Myoclonic Epilepsy Associated With Ragged-Red Fibers |
Merrf Syndrome
|
MERRF
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Fukuhara Syndrome
|
Myoclonic Epilepsy Associated With Ragged Red Fibers
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Myoencephalopathy Ragged-Red Fiber Disease
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Myoclonic Epilepsy - Ragged Red Fibers
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Myoclonus Epilepsy And Ragged Red Fibers
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Myoclonus With Epilepsy And With Ragged Red Fibers
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Myoclonic Epilepsy With Ragged Red Fibers
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Myoclonic Epilepsy With Ragged-Red Fibers
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Fukuhara Disease
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Myoclonus Epilepsy Associated With Ragged-Red Fibres
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Myoclonus With Epilepsy With Ragged Red Fibers
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Kearns-Sayre Syndrome |
Ophthalmoplegia
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Mitochondrial Cytopathy
|
KSS
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Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
Oculocraniosomatic Syndrome
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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
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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
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Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
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Cpeo With Ragged Red Fibers
|
Ophthalmoplegia Plus Syndrome
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Ophthalmoplegia, Progressive External, With Ragged Red Fibers
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Kearns-Sayre Mitochondrial Cytopathy
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Mitochondrial Myopathies
|
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Diabetes And Deafness, Maternally Inherited |
MIDD
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Maternally Inherited Diabetes And Deafness
|
Diabetes-Deafness Syndrome, Maternally Transmitted
|
Ballinger-Wallace Syndrome
|
Diabetes Mellitus, Type Ii, With Deafness
|
Noninsulin-Dependent Diabetes Mellitus With Deafness
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Niddm With Deafness
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Diabetes-Deafness Syndrome Maternally Transmitted
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Ballinger Wallace Syndrome
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Diabetes Mellitus Type Ii With Deafness
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Maternally Transmitted Diabetes-Deafness Syndrome
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Mitochondrial Inherited Diabetes And Deafness
|
Maternally-Inherited Diabetes And Deafness
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Maternally-Inherited Diabetes And Hearing Loss
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Mitochondrial Diabetes
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Cyclic Vomiting Syndrome |
CVS
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Cyclical Vomiting Syndrome
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Abdominal Migraine
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Familial Cyclic Vomiting Syndrome
|
Cyclical Vomiting
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Periodic Vomiting
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Glucose Intolerance |
Glucose: Intolerance
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Glucose: Malabsorption
|
Malabsorption Of Glucose
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Impaired Glucose Tolerance
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
Melas Syndrome
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MELAS
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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
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Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
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Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
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Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
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Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mtdna Mutation
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Hypertrophic Cardiomyopathy With Renal Anomalies Due To Mitochondrial Dna Mutation
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3-Methylglutaconic Aciduria, Type I |
3-Methylglutaconyl-Coa Hydratase Deficiency
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3-Methylglutaconic Aciduria Type 1
|
Mga1
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MGCA1
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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
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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
|
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Macular Degeneration, Age-Related, 2 |
Age Related Macular Degeneration 2
|
ARMD2
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Macular Degeneration, Senile
|
Maculopathy, Age-Related, 2
|
Macular Degeneration, Age-Related, 2, Susceptibility To
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Macular Degeneration, Age-Related, Type 2
|
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Mitochondrial Encephalomyopathy |
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
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Sudden Infant Death Syndrome |
SIDS
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Sudden Infant Death Syndrome, Susceptibility To
|
Cot Death
|
Crib Death
|
Sudden Death Of Nonspecific Cause In Infancy
|
Sudden Infant Death
|
Death, Sudden, Syndrome, Infant
|
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Macular Degeneration, Age-Related, 1 |
Macular Degeneration
|
Age-Related Macular Degeneration
|
Macular Degeneration, Age-Related
|
Age Related Macular Degeneration
|
Age Related Macular Degeneration 1
|
ARMD1
|
Senile Macular Degeneration
|
Maculopathy, Age-Related, 1
|
Macular Degeneration, Age-Related, Reduced Risk Of
|
Age Related Maculopathy 1
|
Age Related Maculopathies
|
Age Related Maculopathy
|
Senile Macular Retinal Degeneration
|
Macular Degeneration Of Retina
|
Age-Related Maculopathy
|
Amd
|
Armd
|
Age-Related Maculopathy, Susceptibility To
|
Maculopathy Age-Related
|
Macular Degeneration, Age-Related, 1, Susceptibility To
|
Maculopathy, Age-Related
|
Macular Degeneration, Age-Related, Type 1
|
Macular Degeneration, Age-Related, 2
|
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Stroke, Ischemic |
Cerebral Infarction
|
Stroke
|
Ischemic Stroke
|
Cerebrovascular Accident
|
Cerebral Infarction, Susceptibility To
|
Stroke, Ischemic, Susceptibility To
|
Cerebral Infarct
|
Ischemic Stroke, Susceptibility To
|
Stroke, Susceptibility To
|
Cva - Cerebral Infarction
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ISCHSTR
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Ischemic Cerebrovascular Accident
|
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Myelodysplastic Syndrome |
Myelodysplastic Syndromes
|
Myelodysplasia
|
MDS
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Myelodysplastic Syndrome Included
|
Myelodysplastic Syndrome, Susceptibility To, Included
|
Myelodysplastic Syndrome, Somatic
|
Myelodysplastic Syndrome, Susceptibility To
|
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Sensorineural Hearing Loss |
Sensory Hearing Loss
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Sensorineural Deafness
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Sensorineural Hearing Loss Disorder
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Hearing Loss, Sensorineural
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Central Hearing Loss
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High Frequency Deafness
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High Frequency Hearing Loss
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High-Frequency Hearing Loss
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Perceptive Deafness
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Perceptive Hearing Loss
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Perceptive Hearing Loss Or Deafness
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Hearing Loss Sensorineural
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Deafness Sensorineural
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Hearing Loss High-Frequency
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Hearing Loss, Central
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Hearing Loss, High-Frequency
|
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Mitochondrial Dna-Associated Leigh Syndrome |
Mils
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Maternally Inherited Leigh Syndrome
|
Leigh Disease, Maternally Inherited
|
Subacute Necrotizing Encephalomyelopathy Maternally Inherited
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Maternally-Inherited Leigh Disease
|
Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy
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Mtdna-Associated Leigh Syndrome
|
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Cerebral Palsy |
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
Palsy Cerebral
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Palsy, Cerebral
|
Cerebral Palsy, Mixed
|
|
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Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
Cytochrome C Oxidase Deficiency
|
Mitochondrial Complex Iv Deficiency
|
Cox Deficiency
|
Cytochrome-C Oxidase Deficiency Disease
|
MC1DN4
|
Cytochrome-C Oxidase Deficiency
|
MC4DN1
|
Mitochondrial Complex I Deficiency, Nuclear Type 4
|
Complex 4 Mitochondrial Respiratory Chain Deficiency
|
Complex Iv Deficiency
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Mitochondrial Complex 1 Deficiency, Nuclear Type 4
|
Nuclear Type Mitochondrial Complex I Deficiency 4
|
Deficiency Of Mitochondrial Respiratory Chain Complex4
|
MT-C4D
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Complex Iv Mitochondrial Respiratory Chain Deficiency
|
Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
|
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
|
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Mitochondrial Disease |
Mitochondrial Diseases
|
Mitochondrial Disorder
|
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Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
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Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
Maternally-Inherited Cpeo
|
Maternally-Inherited Chronic Progressive External Ophthalmoplegia
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Mtdna-Related Progressive External Ophthalmoplegia
|
|
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Intestinal Pseudo-Obstruction |
Chronic Intestinal Pseudoobstruction
|
Chronic Intestinal Pseudo-Obstruction
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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
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Pseudo-Obstruction Of Intestine
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Pseudointestinal Obstruction Syndrome
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Pseudoobstructive Syndrome
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Congenital Idiopathic Intestinal Pseudoobstruction
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Visceral Myopathy, Familial
|
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Advanced Sleep Phase Syndrome, Familial, 2 |
Advanced Sleep Phase Syndrome 2
|
FASPS2
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Advanced Sleep-Phase Syndrome, Familial, 2
|
Familial Advanced Sleep Phase Syndrome 2
|
Sleep Phase Syndrome, Advanced, Familial, Type 2
|
|
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Brain Small Vessel Disease 1 |
Col4a1-Related Brain Small Vessel Disease With Hemorrhage
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Col4a1-Related Familial Vascular Leukoencephalopathy
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Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome
|
Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy
|
Brain Small Vessel Disease With Axenfeld-Riegar Anomaly
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Brain Small Vessel Disease With Hemorrhage
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Brain Small Vessel Disease With Or Without Ocular Anomalies
|
Bsvd1
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Infantile Hemiparesis
|
Leukoencephalopathy With Axenfeld-Riegar Anomaly
|
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Auditory Agnosia |
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Glycogen Storage Disease Ixd |
GSD9D
|
Gsd Ixd
|
Muscle Phosphorylase Kinase Deficiency
|
Muscle Glycogenosis
|
Glycogen Storage Disease Due To Muscle Phosphorylase Kinase Deficiency
|
Glycogen Storage Disease Type 9d
|
Glycogen Storage Disease Type 9e
|
Glycogen Storage Disease Type Ixd
|
Glycogen Storage Disease Type Ixe
|
Glycogenosis Due To Muscle Phosphorylase Kinase Deficiency
|
Glycogenosis Type 9d
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Glycogenosis Type 9e
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Glycogenosis Type Ixd
|
Glycogenosis Type Ixe
|
Gsd Due To Muscle Phosphorylase Kinase Deficiency
|
Gsd Type 9d
|
Gsd Type 9e
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Gsd Type Ixd
|
Gsd Type Ixe
|
Muscle Glycogenosis, X-Linked
|
X-Linked Muscke Glycogenosis
|
Glycogen Storage Disease 9d
|
X-Linked Muscle Glycogenosis
|
Storage Disease, Glycogen, Type Ixd
|
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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
|
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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
|
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Visual Cortex Disease |
Visual Cortex Dysfunction
|
Visual Cortex Disorder
|
Visual Cortical Disorder
|
Disease Of Visual Cortex
|
|
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Visual Pathway Disease |
Disorder Of Visual Pathways
|
|
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Brain Small Vessel Disease |
|
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Mitochondrial Myopathy |
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
Myopathies In Mitochondrial Disorders
|
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Neonatal Period Electroclinical Syndrome |
|
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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
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Neuropathy, Ataxia, Retinitis Pigmentosa
|
Neuropathy Ataxia And Retinis Pigmentosa
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Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome
|
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Cortical Blindness |
|
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Early Myoclonic Encephalopathy |
Myoclonic Epilepsy
|
Myoclonic Seizure
|
Epilepsies, Myoclonic
|
Epileptic Seizures - Myoclonic
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Epileptic Seizures, Myoclonic
|
Myoclonia Epileptica
|
Myoclonic Seizure Disorder
|
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
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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
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Leber Hereditary Optic Neuropathy, Modifier
|
Leber Hereditary Optic Neuropathy Susceptibility
|
Modifier Of Leber Hereditary Optic Neuropathy
|
Lebers Hereditary Optic Neuropathy
|
Leber Congenital Amaurosis
|
|
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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
|
|
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Mitochondrial Dna Depletion Syndrome |
|
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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
|
|
|
Lactic Acidosis |
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
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
|
|
|
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
|
|
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Migraine With Or Without Aura 1 |
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
|
|
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Myopathy |
Muscular Diseases
|
Myopathies
|
|
|
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
|
|
|
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
|
|
|