| 疾病名称 |
别名 |
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| Gracile Syndrome |
|
Finnish Lethal Neonatal Metabolic Syndrome
|
Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death
|
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Flnms
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Fellman Syndrome
|
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Fellman Disease
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Finnish Lactic Acidosis With Hepatic Hemosiderosis
|
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Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome
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Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome
|
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Lactic Acidosis, Finnish, With Hepatic Hemosiderosis
|
Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death
|
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GRACILE
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| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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MC1DN3
|
Mitochondrial Complex Iii Deficiency Nuclear Type 1
|
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MC3DN1
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Mitochondrial Complex I Deficiency, Nuclear Type 3
|
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Mitochondrial Complex 1 Deficiency, Nuclear Type 3
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Nuclear Type Mitochondrial Complex I Deficiency 3
|
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Renal Tubulopathy-Encephalopathy-Liver Failure Syndrome
|
Mitochondrial Complex Iii Deficiency, Nuclear 1
|
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Complex 3 Mitochondrial Respiratory Chain Deficiency
|
Complex Iii Mitochondrial Respiratory Chain Deficiency
|
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Mitochondrial Complex Iii Deficiency, Nuclear, Type 1 ]
|
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| Bjornstad Syndrome |
|
BJS
|
Pili Torti And Nerve Deafness
|
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Ptd
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Pili Torti-Deafness Syndrome
|
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Deafness-Pili Torti-Hypogonadism Syndrome
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Deafness And Pili Torti, Bjornstad Type
|
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Pili Torti-Sensorineural Hearing Loss
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Björnstad Syndrome
|
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Ptnd
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Hearing Loss-Pili Torti-Hypogonadism Syndrome
|
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Bjoernstad Syndrome
|
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| Mitochondrial Complex Iii Deficiency |
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Complex 3 Mitochondrial Respiratory Chain Deficiency
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Isolated Coq-Cytochrome C Reductase Deficiency
|
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Ubiquinone-Cytochrome C Oxidoreductase Deficiency
|
|
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| Movement Disease |
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Movement Disorders
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Movement Disorder
|
|
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| Isolated Complex Iii Deficiency |
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Isolated Coq-Cytochrome C Reductase Deficiency
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Isolated Coenzyme Q-Cytochrome C Reductase Deficiency
|
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Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency
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Isolated Ubiquinone-Cytochrome C Reductase Deficiency
|
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| Leigh Syndrome |
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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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| Microcephaly |
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Microencephaly
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Microcephalus
|
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Microcephalic
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Nanocephaly
|
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Congenital Microcephaly
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Brain Hypoplasia
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Brain Nondevelopment
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Cephalic Hypoplasia
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Undeveloped Cerebrum
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Undeveloped Brain
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Micrencephalon
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Micrencephaly
|
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| Linear Skin Defects With Multiple Congenital Anomalies 2 |
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LSDMCA2
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Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism, And Other Congenital Anomalies
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Aplcc
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Aplasia Cutis Congenita, Reticulolinear, With Microcephaly, Facial Dysmorphism And Other Congenital Anomalies
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| Fanconi Syndrome |
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Infantile Nephropathic Cystinosis
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Adult Fanconi Syndrome
|
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Congenital Fanconi Syndrome
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De Toni-Fanconi Syndrome
|
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Fanconi-De Toni Syndrome
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Lignac-Fanconi Syndrome
|
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Fanconi Renotubular Syndrome
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Primary Fanconi Renotubular Syndrome
|
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De Toni-Debre-Fanconi Syndrome
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Adult Fanconi Anemia
|
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Detoni Fanconi Syndrome
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Fanconi-De-Toni Syndrome
|
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Primary Fanconi Syndrome
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Detoni-Debre-Fanconi Syndrome
|
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Primary Fanconi Renal Syndrome
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Fanconi Anemia
|
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Cystinosis, Infantile Nephropathic
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Fanconi-Bickel Syndrome
|
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Renal Fanconi Syndrome
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Lowe-Bickel Syndrome
|
|
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| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Leigh Syndrome, French Canadian Type
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Mitochondrial Complex V Deficiency Nuclear Type 4
|
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Cytochrome C Oxidase Deficiency, French Canadian Type
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Lsfc
|
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Cox Deficiency, French Canadian Type
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MC5DN4
|
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MC4DN5
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Cox Deficiency, Saguenay-Lac-Saint-Jean Type
|
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Leigh Syndrome, Saguenay-Lac-Saint-Jean Type
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Mitochondrial Complex V Deficiency, Nuclear Type 4
|
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French Canadian Leigh Disease
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Leigh Syndrome, French-Canadian Type
|
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Leigh Syndrome , French Canadian Type
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Mitochondrial Complex V Deficiency, Atp5a1 Type
|
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French Canadian Type Cox Deficiency
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French Canadian Type Cytochrome C Oxidase Deficiency
|
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French Canadian Type Leigh Syndrome
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Saguenay Lac Saint Jean Type Cox Deficiency
|
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Saguenay Lac Saint Jean Type Leigh Syndrome
|
Cox Deficiency, Saguenay Lac Saint Jean Type
|
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Leigh Syndrome, Saguenay Lac Saint Jean Type
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Mitochondrial Complex V Deficiency, Nuclear Type 4
|
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Mitochondrial Complex V Deficiency Atp5a1 Type
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Mitochondrial Complex V Deficiency Type 4
|
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Mitochondrial Complex V Deficiency, Nuclear, Type 4
|
|
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| Sensorineural Hearing Loss |
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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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| Aminoaciduria |
|
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| Lactic Acidosis |
|
Acidosis, Lactic
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Acidosis Lactic
|
|
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| Mitochondrial Metabolism Disease |
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Abnormality Of Mitochondrial Metabolism
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Mitochondrial Diseases
|
|
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| Mitochondrial Dna Depletion Syndrome 6 |
|
Navajo Neurohepatopathy
|
Navajo Neuropathy
|
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MTDPS6
|
Nnh
|
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Nn
|
Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome
|
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Navajo Familial Neurogenic Arthropathy
|
Mpv17-Associated Hepatocerebral Mds
|
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Mitochondrial Dna Depletion 6 Hepatocerebral Type
|
Mitochondrial Dna Depletion Syndrome , Type 6
|
|
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| Hypotrichosis |
|
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| Mitochondrial Dna Depletion Syndrome 3 |
|
Deoxyguanosine Kinase Deficiency
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
|
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MTDPS3
|
Dguok Deficiency
|
|
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
|
Dguok-Related Mitochondrial Dna Depletion Syndrome
|
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Hepatocerebral Mitochondrial Dna Depletion Syndrome
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Mtdna Depletion Syndrome, Hepatocerebral Form
|
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Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency
|
Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive
|
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Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type
|
Mitochondrial Dna Depletion Syndrome , Type 3
|
|
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| Charcot-Marie-Tooth Disease X-Linked Recessive 4 |
|
Cmt4x
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Cmtx4
|
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Cowchock Syndrome
|
X-Linked Charcot-Marie-Tooth Disease Type 4
|
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Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation
|
Charcot-Marie-Tooth Disease With Deafness And Mental Retardation
|
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Nadmr
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Namsd
|
|
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| Pearson Marrow-Pancreas Syndrome |
|
Pearson Syndrome
|
Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction
|
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Pearson'S Marrow/Pancreas Syndrome
|
Pearson'S Syndrome
|
|
Pearson'S Marrow-Pancreas Syndrome
|
|
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| Combined Oxidative Phosphorylation Deficiency 6 |
|
Severe X-Linked Mitochondrial Encephalomyopathy
|
COXPD6
|
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Mitochondrial Encephalomyopathy Due To Combined Oxidative Phosphorylation Defect 6
|
Mitochondrial Encephalomyopathy Due To Coxpd6
|
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Encephalomyopathy, Mitochondrial, X-Linked
|
Encephalomyopathy Mitochondrial X-Linked
|
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Oxidative Phosphorylation Deficiency, Combined, Type 6
|
|
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| Kearns-Sayre Syndrome |
|
Ophthalmoplegia
|
Mitochondrial Cytopathy
|
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KSS
|
Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
|
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Oculocraniosomatic Syndrome
|
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
|
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
|
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
|
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Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia
|
Cpeo With Ragged Red Fibers
|
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Ophthalmoplegia Plus Syndrome
|
Ophthalmoplegia, Progressive External, With Ragged Red Fibers
|
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Kearns-Sayre Mitochondrial Cytopathy
|
Mitochondrial Myopathies
|
|
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| Hemochromatosis, Type 1 |
|
Hemochromatosis
|
Hemochromatosis Type 1
|
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Hereditary Hemochromatosis
|
Hh
|
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HFE1
|
Hfe Hemochromatosis, Modifier Of
|
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Symptomatic Form Of Classic Hemochromatosis
|
Symptomatic Form Of Hemochromatosis Type 1
|
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Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis
|
Haemochromatosis
|
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Iron Storage Disorder
|
Bronze Diabetes
|
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Hereditary Haemochromatosis
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Hlah
|
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Hfe
|
Hemochromatosis, Hereditary
|
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Diabetes Bronze
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Classic Hemochromatosis
|
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Hfe-Associated Hereditary Hemochromatosis
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Hemochromatosis Classic
|
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Bronzed Cirrhosis
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Familial Hemochromatosis
|
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Genetic Hemochromatosis
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Hc
|
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Pigmentary Cirrhosis
|
Primary Hemochromatosis
|
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Troisier-Hanot-Chauffard Syndrome
|
Von Recklenhausen-Applebaum Disease
|
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Hemochromatosis 1
|
Primary Hereditary Hemochromatosis
|
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Bronze Cirrhosis
|
|
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| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Pyruvate Dehydrogenase Deficiency
|
Pyruvate Dehydrogenase Complex Deficiency
|
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Pyruvate Decarboxylase Deficiency
|
Pdh Deficiency
|
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PDHAD
|
Pyruvate Dehydrogenase Complex Deficiency Disease
|
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Ataxia With Lactic Acidosis I
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Ataxia With Lactic Acidosis 1
|
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Pdh
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Pdhc
|
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Ataxia With Lactic Acidosis
|
Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
|
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Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency
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Deficiency Of Pyruvic Dehydrogenase
|
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Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency
|
Pdc Deficiency
|
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Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency
|
Pdhc Deficiency
|
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Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency
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Ataxia Intermittent With Abnormal Pyruvate Metabolism
|
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Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency
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Pyruvate Dehydrogenase E1 Alpha Deficiency
|
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Pdc - [Pyruvate Dehydrogenase Complex] Deficiency
|
Ataxia With Lactic Acidosis 2
|
|
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| Mitochondrial Dna Depletion Syndrome |
|
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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
|
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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
|
|
|
| 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 Encephalomyopathy |
|
Mitochondrial Encephalomyopathies
|
Encephalomyopathy, Mitochondrial
|
|
|
| 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
|
|
|
| Wolf-Hirschhorn Syndrome |
|
Pitt-Rogers-Danks Syndrome
|
WHS
|
|
Chromosome 4p16.3 Deletion Syndrome
|
Wittwer Syndrome
|
|
4p- Syndrome
|
Pitt Syndrome
|
|
4p Deletion Syndrome
|
Distal Deletion 4p
|
|
Distal Monosomy 4p
|
Telomeric Deletion 4p
|
|
Prds
|
4p Syndrome
|
|
Chromosome 4p Syndrome
|
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
|
|
Wolf Syndrome
|
Chromosome 4p Deletion Syndrome
|
|
Chromosome 4p Monosomy
|
Del Syndrome
|
|
Monosomy 4p
|
Partial Monosomy 4p
|
|
Chromosome 4 Short Arm Deletion
|
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| 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
|
|
Mitochondrial Complex 1 Deficiency, Nuclear Type 4
|
Nuclear Type Mitochondrial Complex I Deficiency 4
|
|
Deficiency Of Mitochondrial Respiratory Chain Complex4
|
MT-C4D
|
|
Complex Iv Mitochondrial Respiratory Chain Deficiency
|
Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
|
|
Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
|
|
|
| Chromosome 2q35 Duplication Syndrome |
|
Syndactyly
|
Syndactyly Type 1
|
|
Sdty1
|
Zygodactyly
|
|
Syndactyly, Type I
|
Sd1
|
|
Syndactyly, Type 1, With Or Without Craniosynostosis
|
Symphalangism
|
|
Non-Syndromic Syndactyly
|
Symphalangy
|
|
Webbing Of Digits
|
Syndactyly, Type 1
|
|
|
