| 疾病名称 |
别名 |
|
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome
|
COQ10D5
|
|
Primary Coenzyme Q10 Deficiency 5
|
Coenzyme Q10 Deficiency, Primary, Type 5
|
|
|
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Scar9
|
Spinocerebellar Ataxia, Autosomal Recessive 9
|
|
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
|
COQ10D4
|
|
Arca2
|
Autosomal Recessive Cerebellar Ataxia Type 2
|
|
Primary Coenzyme Q10 Deficiency 4
|
Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency
|
|
Autosomal Recessive Spinocerebellar Ataxia Type 9
|
Autosomal Recessive Spinocerebellar Ataxia 9
|
|
Spinocerebellar Ataxia Autosomal Recessive 9
|
Coenzyme Q10 Deficiency, Primary, Type 4
|
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 9
|
|
|
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome
|
COQ10D7
|
|
Primary Coenzyme Q10 Deficiency 7
|
Coq4-Related Neonatal Encephalomyopathy
|
|
Coenzyme Q10 Deficiency, Primary, Type 7
|
|
|
| Coenzyme Q10 Deficiency, Primary, 3 |
|
COQ10D3
|
Primary Coenzyme Q10 Deficiency 3
|
|
Coenzyme Q10 Deficiency, Primary, Type 3
|
|
|
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness
|
COQ10D6
|
|
Primary Coenzyme Q10 Deficiency 6
|
Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Hearing Loss
|
|
Srns With Sensorineural Deafness
|
Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness
|
|
Coenzyme Q10 Deficiency, Primary, Type 6
|
|
|
| Coenzyme Q10 Deficiency Disease |
|
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
|
|
|
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome
|
COQ10D2
|
|
Primary Coenzyme Q10 Deficiency 2
|
Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome
|
|
Coenzyme Q10 Deficiency, Primary, Type 2
|
|
|
| Combined Oxidative Phosphorylation Deficiency 33 |
|
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
MRXSBL
|
Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
|
|
X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance
|
Mental Retardation, X-Linked 60, Formerly
|
|
Mrx60, Formerly
|
Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type
|
|
Mrx60
|
Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
|
|
|
| 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
|
|
|
| Encephalopathy, Ethylmalonic |
|
Ethylmalonic Encephalopathy
|
EE
|
|
Epema Syndrome
|
Encephalopathy, Petechiae, And Ethylmalonic Aciduria
|
|
Ethe1 Deficiency
|
Eme
|
|
Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria
|
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
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
|
|
|
| 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
|
|
|
| Mitochondrial Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| Osteogenesis Imperfecta, Type I |
|
Osteogenesis Imperfecta Type I
|
OI1
|
|
Oi, Type I
|
Osteogenesis Imperfecta Tarda
|
|
Osteogenesis Imperfecta With Blue Sclerae
|
Osteogenesis Imperfecta Type 1
|
|
Adair-Dighton Syndrome
|
Mild Osteogenesis Imperfecta
|
|
Non-Deforming Osteogenesis Imperfecta
|
Oi Type 1
|
|
Van Der Hoeve Syndrome
|
Classic Non-Deforming Oi With Blue Sclerae
|
|
Osteogenesis Imperfecta 1
|
Oi-I
|
|
Osteopenic Non-Fracture Syndrome
|
Osteogenesis Imperfecta, Mild
|
|
Osteogenesis Imperfecta
|
Lobstein'S Disease
|
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
