疾病名称 |
别名 |
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Leber Hereditary Optic Neuropathy, Modifier Of |
Leber Optic Atrophy
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Leber Hereditary Optic Neuropathy
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LHON
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Leber'S Hereditary Optic Neuropathy
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Leber Optic Atrophy, Susceptibility To
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Leber'S Optic Atrophy
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LOAM
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Loas
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Leber'S Disease
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Leber'S Optic Neuropathy
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Optic Atrophy, Hereditary, Leber
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Lhon, Modifier Of
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Optic Atrophy, Leber Type
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Hereditary Optic Neuroretinopathy
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Leber Hereditary Optic Atrophy
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Loa
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Optic Atrophy Leber Type
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Leber Hereditary Optic Neuropathy, Modifier
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Leber Hereditary Optic Neuropathy Susceptibility
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Modifier Of Leber Hereditary Optic Neuropathy
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Lebers Hereditary Optic Neuropathy
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Leber Congenital Amaurosis
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Mitochondrial Complex I Deficiency, Nuclear Type 1 |
Mitochondrial Complex I Deficiency
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Nadh:Q(1) Oxidoreductase Deficiency
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MC1DN1
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Nadh-Coenzyme Q Reductase Deficiency
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Isolated Mitochondrial Respiratory Chain Complex I Deficiency
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Isolated Nadh-Coenzyme Q Reductase Deficiency
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Isolated Nadh-Coq Reductase Deficiency
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Isolated Nadh-Ubiquinone Reductase Deficiency
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Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of
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Nuclear Type Mitochondrial Complex I Deficiency 1
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Isolated Complex I Deficiency
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Complex 1 Mitochondrial Respiratory Chain Deficiency
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Nadh Coenzyme Q Reductase Deficiency
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Complex I Mitochondrial Respiratory Chain Deficiency
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Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I
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Nadh:Ubiquinone Oxidoreductase Deficiency
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Complex I, Mitochondrial Respiratory Chain, Deficiency Of
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Alzheimer Disease Mitochondrial |
Alzheimer Disease, Susceptibility To, Mitochondrial
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AD-MT
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Mitochondrial Dna-Associated Leigh Syndrome |
Mils
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Maternally Inherited Leigh Syndrome
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Leigh Disease, Maternally Inherited
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Subacute Necrotizing Encephalomyelopathy Maternally Inherited
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Maternally-Inherited Leigh Disease
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Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy
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Mtdna-Associated Leigh Syndrome
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Leigh Syndrome |
Leigh Disease
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Infantile Subacute Necrotizing Encephalopathy
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Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
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LS
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Sne
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Leigh'S Disease
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Leigh Syndrome Due To Mitochondrial Complex I Deficiency
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Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
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Subacute Necrotizing Encephalomyelopathy
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Necrotizing Encephalopathy Infantile Subacute Of Leigh
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Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
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Infantile Necrotizing Encephalomyelopathy
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Juvenile Subacute Necrotizing Encephalomyelopathy
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Leigh'S Necrotizing Encephalopathy
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Subacute Necrotizing Encephalopathy
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Juvenile Subacute Necrotizing Encephalopathy
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Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
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Leigh Syndrome Due To Mitochondrial Complex V Deficiency
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Encephalopathy, Subacute Necrotizing, Infantile
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Encephalopathy, Subacute Necrotizing, Juvenile
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Maternally Inherited Leigh Syndrome
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Subacute Necrotising Encephalomyelopathy
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Subacute Necrotising Encephalopathy
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Leber Plus Disease |
Leber Congenital Amaurosis
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Lca
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Leber'S Amaurosis
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Leber'S Disease
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Amaurosis Congenita Of Leber
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Amaurosis Congenita Of Leber, Type 1
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Lhon Plus Disease
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Congenital Absence Of The Rods And Cones
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Congenital Retinal Blindness
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Crb
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Congenital Amaurosis Of Retinal Origin
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Leber'S Congenital Amaurosis
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Leber Congenital Amaurosis 1
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Leber'S Congenital Tapetoretinal Degeneration
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Leber'S Congenital Tapetoretinal Dysplasia
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Lca1
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Leber Congenital Amaurosis Type 1
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Retinal Blindness, Congenital
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Amaurosis, Leber Congenital
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Dysgenesis Neuroepithelialis Retinae
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Hereditary Epithelial Dysplasia Of Retina
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Hereditary Retinal Aplasia
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Heredoretinopathia Congenitalis
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Leber Abiotrophy
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Leber Congenital Tapetoretinal Degeneration
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Lebers Congenital Amaurosis
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Optic Atrophy, Hereditary, Leber
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Hereditary Optic Neuropathy |
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Mitochondrial Myopathy, Infantile, Transient |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
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MMIT
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Mitochondrial Myopathy, Infantile, Transient, Due To Respiratory Chain Deficiency
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Cox Deficiency Myopathy, Infantile, Transient
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Respiratory Chain Deficiency, Infantile, Transient
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Benign Cox Deficiency
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Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy
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Mitochondrial Myopathy With Reversible Cox Deficiency
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Mitochondrial Myopathy With Reversible Complex Iv Deficiency
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Reversible Infantile Cytochrome C Oxidase Deficiency
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Reversible Infantile Respiratory Chain Deficiency
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Neuropathy |
Peripheral Neuropathy
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Peripheral Neuropathies
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Myocardial Infarction |
Heart Attack
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Myocardial Infarction, Susceptibility To
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Myocardial Infarction 1
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Myocardial Infarction, Protection Against
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Myocardial Infarction, Decreased Susceptibility To
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Myocardial Infarction, Decreased
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Myocardial Infarct
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MCI1
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Premature Myocardial Infarction
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Myocardial Infarction, Susceptibility To, Type 1
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Severe Congenital Neutropenia 1 |
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Diamond-Blackfan Anemia 8 |
DBA8
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Rps7-Related Diamond-Blackfan Anemia
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Anemia, Diamond-Blackfan, Type 8
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Multiple Sclerosis |
MS
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Multiple Sclerosis, Susceptibility To
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Disseminated Sclerosis
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Multiple Sclerosis, Disease Progression, Modifier Of
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Insular Sclerosis
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Multiple Sclerosis Modifier Of Disease Progression
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Multiple Sclerosis, Susceptibility To 1
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Multiple Sclerosis, Susceptibility To, 1
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Multiple Sclerosis 1
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Generalized Multiple Sclerosis
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Multiple Sclerosis Variant
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Multiple Sclerosis Susceptibility To
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Cerebrospinal Sclerosis
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Generalised Multiple Sclerosis
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Ms - [Multiple Sclerosis]
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Disseminated Cerebrospinal Sclerosis
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Disseminated Multiple Sclerosis
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Disseminated Nervous System Myelosclerosis
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Multiple Cerebrospinal Sclerosis
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Multiple Combined Sclerosis
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Multiple Sclerosis Generalised
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Disseminated Brain Sclerosis
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Disseminated Spinal Sclerosis
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Insular Brain Sclerosis
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Miliary Brain Sclerosis
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Multiple Combined Sclerosis Of Spinal Cord
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Multiple Ascending Sclerosis
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Multiple Brain Sclerosis
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Multiple Sclerosis Of Brain Stem
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Multiple Sclerosis Of The Brain Stem
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Multiple Sclerosis Of Cord
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Sclérose En Plaques
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Plaque Sclerosis
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Multiple Sclerosis Of The Spinal Cord
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Histoplasmosis |
Darling Disease
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Reticuloendotheliosis, X-Linked
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Infection By Histoplasma Capsulatum
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Histoplasma Infection
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Reticuloendothelial Cytomycosis
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Cytomycosis
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Darling Histoplasmosis
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African Histoplasmosis
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Histoplasmosis Duboisii
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Parkinson Disease 17 |
PARK17
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Parkinson'S Disease 17
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Autosomal Dominant Parkinson Disease 17
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Parkinson Disease, Type 17
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Kearns-Sayre Syndrome |
Ophthalmoplegia
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Mitochondrial Cytopathy
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KSS
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Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
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Oculocraniosomatic Syndrome
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Chronic Progressive External Ophthalmoplegia With Myopathy
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Cpeo With Myopathy
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Total Ophthalmoplegia
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Ophthalmoplegia-Plus Syndrome
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Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
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Cpeo With Ragged-Red Fibers
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Oculomotor Paralysis
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Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O
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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
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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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Alveolar Echinococcosis |
Echinococcus Multilocularis Infection
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Echinococcosis
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Alveolococcosis
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Multilocular Hydatid
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Small Fox Tapeworm
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Parathyroid Oncocytic Adenoma |
Parathyroid Gland Oncocytic Adenoma
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Arthrogryposis, Distal, Type 1c |
DA1C
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Distal Arthrogryposis Type 1c
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Arthrogryposis, Distal, 1c
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Dicrocoeliasis |
Disease Due To Dicrocoeliidae
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Lancet Fluke Infection
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Dicroceliosis
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Lancet Fluke Disease
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Lancet Fluke Infestation
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Mitochondrial Encephalomyopathy |
Mitochondrial Encephalomyopathies
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Encephalomyopathy, Mitochondrial
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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
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Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
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Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
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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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Mitochondrial Myopathy |
Mitochondrial Myopathies
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Mitochondrial Cytopathy
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Myopathies In Mitochondrial Disorders
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3-Methylglutaconic Aciduria, Type Iii |
Optic Atrophy
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3-Methylglutaconic Aciduria Type 3
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Costeff Syndrome
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Mga3
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Costeff Optic Atrophy Syndrome
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Optic Atrophy Plus Syndrome
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Infantile Optic Atrophy With Chorea And Spastic Paraplegia
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3-Methylglutaconic Aciduria Type Iii
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Autosomal Recessive Optic Atrophy Plus Syndrome
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Autosomal Recessive Optic Atrophy Type 3
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Opa3 Defect
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MGCA3
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Mga, Type Iii
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Iraqi Jewish Optic Atrophy Plus
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Mga Type Iii
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Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
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Iraqi-Jewish 'Optic Atrophy Plus'
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Optic Atrophy 3, Autosomal Recessive
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Opa3, Autosomal Recessive
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Opa3-Related 3-Methylglutaconic Aciduria
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Iraqi-Jewish Optic Atrophy Plus
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Atrophy Of Optic Disc
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3-Alpha Methylglutaconic Aciduria Type Iii
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Optic Atrophy 3
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Optic Atrophy Infantile With Chorea And Spastic Paraplegia
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Autosomal Recessive Opa3
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Autosomal Recessive Optic Atrophy 3
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3-Methylglutaconic Aciduria 3
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3-Alpha-Methylglutaconic Aciduria Type 3
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Optic Atrophy 3 Autosomal Recessive
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Atrophy, Optic
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Atrophy, Optic, Plus Syndrome
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Optic Nerve Atrophy
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Primary Optic Atrophy
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Oa - [Optic Atrophy]
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Second Cranial Nerve Atrophy
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Second Cranium Nerve Atrophy
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Noonan Syndrome 1 |
Noonan Syndrome
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NS1
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Male Turner Syndrome
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Female Pseudo-Turner Syndrome
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Turner Phenotype With Normal Karyotype
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Noonan Syndrome With Pigmented Villonodular Synovitis
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Turner'S Phenotype, Karyotype Normal
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Familial Turner Syndrome
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Noonan'S Syndrome
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Noonan-Ehmke Syndrome
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Ns
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Pseudo-Ullrich-Turner Syndrome
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Turner Syndrome In Female With X Chromosome
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Turner-Like Syndrome
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Ullrich-Noonan Syndrome
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Noonan-Like/Multiple Giant Cell Lesion Syndrome
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Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
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Pterygium Colli Syndrome
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Noonan Syndrome, Type 1
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Turner Syndrome, Male
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Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
PEOA4
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Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4
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Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4
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Chronic Progressive External Ophthalmoplegia
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Progressive External Ophthalmoplegia, Autosomal Dominant 4
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Autosomal Dominant Progressive External Ophthalmoplegia 4
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Cpeo
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Graefe Disease
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Mitochondrial Ocular Myopathy
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Ocular Myopathy Of Von Graefe-Fuchs
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Progressive External Ophthalmoplegia Autosomal Dominant 4
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Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4
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Kearns-Sayre Syndrome
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Optic Nerve Disease |
Optic Neuropathy
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Disorder Of The Second Nerve
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Optic Nerve Disorder
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Optic Nerve
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Abnormality Of The Optic Nerve
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Optic Nerve Disorders
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Neuropathy, Optic
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Disorder Of The Optic Nerve
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Cranial Nerve Disease |
Cranial Nerve Disorder
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Disorder Of Cranial Nerve
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Cranial Nerve Diseases
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Mitochondrial Dna Depletion Syndrome 4a |
Alpers Syndrome
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Alpers-Huttenlocher Syndrome
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Alpers Progressive Infantile Poliodystrophy
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Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
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Alpers Disease
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Progressive Sclerosing Poliodystrophy
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Pndc
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Diffuse Cerebral Sclerosis Of Schilder
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MTDPS4A
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Neuronal Degeneration Of Childhood With Liver Disease, Progressive
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Alper'S Syndrome
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Alpers' Disease Or Gray-Matter Degeneration
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Diffuse Cerebral Degeneration In Infancy
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Infantile Poliodystrophy
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Poliodystrophia Cerebri Progressiva
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Progressive Cerebral Poliodystrophy
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Alpers' Disease
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Alpers Progressive Sclerosing Poliodystrophy
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Progressive Neuronal Degeneration Of Childhood With Liver Disease
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Ahs
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Mitochondrial Dna Depletion Syndrome 4a Alpers Type
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Neuronal Degeneration Of Childhood With Liver Disease Progressive
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Myoclonic Epilepsy Associated With Ragged-Red Fibers |
Merrf Syndrome
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MERRF
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Fukuhara Syndrome
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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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Early Myoclonic Encephalopathy |
Myoclonic Epilepsy
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Myoclonic Seizure
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Epilepsies, Myoclonic
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Epileptic Seizures - Myoclonic
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Epileptic Seizures, Myoclonic
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Myoclonia Epileptica
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Myoclonic Seizure Disorder
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Early Myoclonic Encephalopathy With Suppression-Bursts
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Retinitis Pigmentosa |
RP
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Rod-Cone Dystrophy
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Autosomal Recessive Retinitis Pigmentosa
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Non-Syndromic Retinitis Pigmentosa
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Pericentral Pigmentary Retinopathy
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Pigmentary Retinopathy
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Tapetoretinal Degeneration
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Rcd
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Retinitis Pigmentosa Autosomal Recessive
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ARRP
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Retinitis Pigmentosa, Autosomal Recessive
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Retinitis Pigmentosa 1
|
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