| 疾病名称 |
别名 |
|
| Cerebral Creatine Deficiency Syndrome 2 |
|
Guanidinoacetate Methyltransferase Deficiency
|
Gamt Deficiency
|
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Creatine Deficiency Syndrome Due To Gamt Deficiency
|
Deficiency Of Guanidinoacetate Methyltransferase
|
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CCDS2
|
Guanidinoacetate Methyltransferase Deficiency
|
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Deficiency, Cerebral Creatine, Syndrome, Type 2
|
Language Development Disorders
|
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| Cerebral Creatine Deficiency Syndrome |
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Deficiency, Cerebral Creatine, Syndrome
|
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| Creatine Deficiency Disorders |
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Cerebral Creatine Deficiency Disorders
|
Creatine Deficiency Syndrome
|
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Ccds
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Cds
|
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Cerebral Creatine Deficiency Syndrome
|
Creatine Deficiency
|
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Creatine Deficiency Syndromes
|
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
|
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| Nervous System Disease |
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Abnormality Of The Nervous System
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Nervous System Diseases
|
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Nervous System Disorder
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| Cerebral Creatine Deficiency Syndrome 3 |
|
Arginine:Glycine Amidinotransferase Deficiency
|
Agat Deficiency
|
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Gatm Deficiency
|
Creatine Deficiency Syndrome Due To Agat Deficiency
|
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L-Arginine:Glycine Amidinotransferase Deficiency
|
CCDS3
|
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L-Arginine:Glycine Aminidotransferase Deficiency
|
Deficiency, Cerebral Creatine, Syndrome, Type 3
|
|
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| Cerebral Creatine Deficiency Syndrome 1 |
|
Creatine Transporter Deficiency
|
Creatine Transporter Defect
|
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Slc6a8 Deficiency
|
X-Linked Creatine Deficiency Syndrome
|
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CCDS1
|
Creatine Deficiency Syndrome, X-Linked
|
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X-Linked Creatine Deficiency
|
Creatine Deficiency, X-Linked
|
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X-Linked Creatine Transporter Deficiency
|
Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
|
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Mental Retardation, X-Linked, With Creatine Transport Deficiency
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Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
|
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Intellectual Disability, X-Linked, With Creatine Transport Deficiency
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Slc6a8-Related Creatine Transporter Deficiency
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Deficiency, Cerebral Creatine, Syndrome, Type 1
|
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| Movement Disease |
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Movement Disorders
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Movement Disorder
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| Molybdenum Cofactor Deficiency, Complementation Group A |
|
MOCODA
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Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A
|
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Molybdenum Cofactor Deficiency A
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Molybdenum Cofactor Deficiency Type A
|
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Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A
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Mocod Type A
|
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Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase
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Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of
|
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Molybdenum Cofactor Deficiency Complementation Group A
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Molybdenum Cofactor Deficiency, Type A
|
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Deficiency, Molybdenum Cofactor, Complementation Group A
|
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| Amino Acid Metabolic Disorder |
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Amino Acid Metabolism, Inborn Errors
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Inborn Errors Of Amino Acid Metabolism
|
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Disorder Of Amino Acid Metabolism
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Amino Acid Metabolism Disorders
|
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| Hypotonia |
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| Epilepsy |
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Epilepsy Syndrome
|
Epileptic Syndrome
|
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Epilepsies
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Symptomatic Epilepsies
|
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Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
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Traumatic Epileptic
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Epilepsy Due To Hippocampal Sclerosis
|
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Epilepsy With Ammon'S Horn Sclerosis
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Epilepsy Due To Cortical Dysplasia
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Epilepsy Due To Neuronal Migration Disorders
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| Holocarboxylase Synthetase Deficiency |
|
HLCS DEFICIENCY
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Early-Onset Multiple Carboxylase Deficiency
|
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Biotin- Ligase Deficiency
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Neonatal Multiple Carboxylase Deficiency
|
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Multiple Carboxylase Deficiency, Neonatal Form
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Multiple Carboxylase Deficiency, Early Onset
|
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Multiple Carboxylase Deficiency - Neonatal Onset
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Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
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Early-Onset Combined Carboxylase Deficiency
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Infantile Multiple Carboxylase Deficiency
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Biotin-Responsive Mcd
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Biotin-Responsive Multiple Carboxylase Deficiency
|
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Early-Onset Mcd
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Mcd Neonatal Form
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| Argininemia |
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Hyperargininemia
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Arginase Deficiency
|
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Arg1 Deficiency
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Arginase-1 Deficiency
|
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Deficiency Of Canavanase
|
Arginase Deficiency Disease
|
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ARGIN
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|
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| Molybdenum Cofactor Deficiency |
|
Combined Molybdoflavoprotein Enzyme Deficiency
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Mocod
|
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Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
|
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Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency
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Deficiency Of Molybdenum Cofactor
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Deficiency, Molybdenum Cofactor
|
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| Argininosuccinic Aciduria |
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Argininosuccinate Lyase Deficiency
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Asl Deficiency
|
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Argininosuccinic Acid Lyase Deficiency
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Argininosuccinase Deficiency
|
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Argininosuccinic Acidemia
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Arginosuccinase Deficiency
|
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Asa Deficiency
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Argininosuccinicaciduria
|
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Asauria
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Deficiency Of Argininosuccinate Lyase
|
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Asld
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Arginino Succinase Deficiency
|
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Argininosuccinate Acidemia
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Inborn Error Of Urea Synthesis, Arginino Succinic Type
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Urea Cycle Disorder, Arginino Succinase Type
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Argininosuccinyl-Coa Lyase Deficiency
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Asa
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Argininosuccinatelyase Deficiency
|
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ARGINSA
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Aciduria Argininosuccinic
|
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Citrullinemia
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Argininosuccinic Acidaemia
|
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Metabolic Disorder Of Arginosuccinic Acid
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| Isovaleric Acidemia |
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Isovaleric Acid Coa Dehydrogenase Deficiency
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Isovaleryl-Coa Dehydrogenase Deficiency
|
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IVA
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Ivd Deficiency
|
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Acidemia, Isovaleric
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Isovaleric Aciduria
|
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Isovaleryl Coa Carboxylase Deficiency
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Isovaleric Acid-Coa Dehydrogenase Deficiency
|
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| Gyrate Atrophy Of Choroid And Retina |
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Gyrate Atrophy
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Ornithine Aminotransferase Deficiency
|
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HOGA
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Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
|
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Oat Deficiency
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Okt Deficiency
|
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Hyperornithinemia
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Ornithine Keto Acid Aminotransferase Deficiency
|
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Ornithine-Delta-Aminotransferase Deficiency
|
Gyrate Atrophy Of The Choroid And Retina
|
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GACR
|
Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
|
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Gyrate Atrophy Of The Retina
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Ornithinemia With Gyrate Atrophy
|
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Ornithinemia
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Fuchs Atrophia Gyrata Chorioideae Et Retinae
|
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Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome
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Gyrate Atrophy Of The Choroid And/Or Retina
|
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Girate Atrophy Of The Retina
|
Ornithine Ketoacid Aminotransferase Deficiency
|
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Atrophy, Gyrate, Of Choroid And Retina
|
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| Biotinidase Deficiency |
|
Late-Onset Multiple Carboxylase Deficiency
|
BTD DEFICIENCY
|
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Multiple Carboxylase Deficiency, Late-Onset
|
Multiple Carboxylase Deficiency, Juvenile-Onset
|
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Juvenile-Onset Multiple Carboxylase Deficiency
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Biotin Deficiency
|
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Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
Deficiency Of Biotinidase
|
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Biot
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Carboxylase Deficiency, Multiple, Late-Onset
|
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Late-Onset Mcd
|
Mcd Juvenile Form
|
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Biotin Deficiency Disease
|
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| Urea Cycle Disorder |
|
Urea Cycle Disorders
|
Urea Cycle Disorders, Inborn
|
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Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia
|
Disorder Of Urea Cycle Metabolism
|
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Urea Cycle Defect
|
Ucd
|
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Disorder Of The Urea Cycle Metabolism
|
Disorder Of Urea Cycle
|
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Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia
|
Ammonia Metabolic Disorder
|
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| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ornithine Carbamoyltransferase Deficiency
|
Ornithine Transcarbamylase Deficiency
|
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Otc Deficiency
|
Ornithine Carbamoyltransferase Deficiency Disease
|
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OTCD
|
Deficiency Of Citrulline Phosphorylase
|
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Oct Deficiency
|
Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency
|
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Deficiency, Ornithine Carbamoyltransferase
|
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| Rett Syndrome |
|
Atypical Rett Syndrome
|
RTT
|
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Rett Disorder
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Rts
|
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Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
|
Rett Syndrome, Preserved Speech Variant
|
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Rett Syndrome, Atypical
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Rett'S Disorder
|
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Rett Syndrome Variant
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
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Cerebroatrophic Hyperammonemia
|
Rett Like Syndrome
|
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Rett'S Syndrome
|
Atypical Rtt
|
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
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Rett Syndrome Preserved Speech Variant
|
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Rett Syndrome Zappella Variant
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Rett Syndrome, Zappella Variant
|
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| Propionic Acidemia |
|
Ketotic Hyperglycinemia
|
Propionyl-Coa Carboxylase Deficiency
|
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Pcc Deficiency
|
Propionicacidemia
|
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Glycinemia, Ketotic
|
Hyperglycinemia With Ketoacidosis And Leukopenia
|
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Ketotic Glycinemia
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Propionic Aciduria
|
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Prop
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Acidemia, Propionic
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PA-1
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Ketotic Ii Glycinemia
|
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Hyperglycinemia, Ketotic
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Propionic Acidemia Type I
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Propionic Acidemia Type Ii
|
PA-2
|
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Propionicaciduria
|
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| Dihydropyrimidine Dehydrogenase Deficiency |
|
Dpd Deficiency
|
Familial Pyrimidinemia
|
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Hereditary Thymine-Uraciluria
|
Dihydropyrimidinuria
|
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Dpyd Deficiency
|
Thymine-Uraciluria, Hereditary
|
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Pyrimidinemia, Familial
|
5-Fluorouracil Toxicity
|
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Dihydrouracil Dehydrogenase Deficiency
|
Familial Pyrimidinaemia
|
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Thymine-Uracilurea
|
Familial Pyrimidemia
|
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Pyrimidinemia Familial
|
DPYDD
|
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| Epilepsy, Pyridoxine-Dependent |
|
Pyridoxine-Dependent Epilepsy
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PDE
|
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Pyridoxine Dependency With Seizures
|
Vitamin B6-Dependent Seizures
|
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EPD
|
Aasa Dehydrogenase Deficiency
|
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Antiquitin Deficiency
|
Pyridoxine Dependency
|
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Glutamate Decarboxylase Deficiency
|
Pyridoxine-Dependent Seizures
|
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Deficiency Of Glutamate Decarboxylase
|
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| D-2-Hydroxyglutaric Aciduria 1 |
|
D-2-Hydroxyglutaric Aciduria
|
D2HGA1
|
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D-2-Hga
|
D-2-Hydroxyglutaric Acidemia
|
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D2ha
|
D2hga
|
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Aciduria, D-2-Hydroxyglutaric, Type 1
|
Combined D-2- And L-2-Hydroxyglutaric Aciduria
|
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| Fumarase Deficiency |
|
Fumaric Aciduria
|
FMRD
|
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Fumarate Hydratase Deficiency
|
Deficiency, Fumarase
|
|
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| Maple Syrup Urine Disease |
|
MSUD
|
Bckd Deficiency
|
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Branched-Chain Ketoaciduria
|
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
|
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Keto Acid Decarboxylase Deficiency
|
Maple Syrup Urine Disease, Type Ii
|
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Branched Chain Ketoaciduria
|
Classic Maple Syrup Urine Disease
|
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Intermittent Maple Syrup Urine Disease
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Maple Syrup Urine Disease, Type Ia
|
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Ketoacidaemia
|
Bckdh Deficiency
|
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Branched-Chain 2-Ketoacid Dehydrogenase Deficiency
|
Thiamine-Responsive Maple Syrup Urine Disease
|
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Intermediate Maple Syrup Urine Disease
|
Maple Syrup Urine Disease Type 1a
|
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Maple Syrup Urine Disease Type 1b
|
Maple Syrup Urine Disease Type 2
|
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Maple Syrup Urine Disease, Type Ib
|
Dihydrolipoamide Dehydrogenase Deficiency
|
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Branched-Chain Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Disease
|
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Ketoacidemia
|
Classic Bckd Deficiency
|
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Classic Msud
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Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
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Classic Branched-Chain Ketoaciduria
|
Thiamine-Responsive Bckd Deficiency
|
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Thiamine-Responsive Msud
|
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
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Intermittent Bckd Deficiency
|
Intermittent Msud
|
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Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Urine Disease 1a
|
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MSUD1A
|
Maple Syrup Urine Disease Type Ia
|
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Msud Type Ia
|
Maple Syrup Urine Disease 1b
|
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MSUD1B
|
Maple Syrup Urine Disease Type Ib
|
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Msud Type Ib
|
Maple Syrup Urine Disease 2
|
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MSUD2
|
Maple Syrup Urine Disease Type Ii
|
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Msud Type Ii
|
Nadh Cytochrome B5 Reductase Deficiency
|
|
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
|
Ketonemia
|
|
Maple Syrup Urine Disease, Type 1b
|
Ketoacid Decarboxylase Deficiency
|
|
Oxoacid Decarboxylase Deficiency
|
Branched Chain Ketoacid Dehydrogenase Deficiency
|
|
Msud - [Maple-Syrup-Urine Disease]
|
Ketoaminoacidaemia
|
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Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]
|
Maple-Syrup-Urine Disorder
|
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Maple-Syrup-Urine Syndrome
|
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| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Glycine Encephalopathy |
|
Non-Ketotic Hyperglycinemia
|
Nonketotic Hyperglycinemia
|
|
NKH
|
GCE
|
|
Hyperglycinemia, Nonketotic
|
Hyperglycinemia Nonketotic
|
|
Infantile Glycine Encephalopathy
|
Encephalopathy, Glycine
|
|
Glycine Synthase Deficiency
|
Nka
|
|
Neonatal Glycine Encephalopathy
|
Classic Glycine Encephalopathy
|
|
Neonatal Nkh
|
Neonatal Non-Ketotic Hyperglycinemia
|
|
Infantile Nkh
|
Infantile Non-Ketotic Hyperglycinemia
|
|
Non-Ketotic Hyperglycinaemia
|
Glycine Cleavage Deficiency
|
|
Nonketotic Hyperglycinaemia
|
|
|
| Methylmalonic Acidemia |
|
Methylmalonic Aciduria
|
Mma
|
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
| 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
|
|
|
| Early Infantile Epileptic Encephalopathy |
|
Early Infantile Epileptic Encephalopathy With Burst-Suppression
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
|
Eiee
|
Early Infantile Epileptic Encephalopathy With Suppression-Bursts
|
|
Ohtahara Syndrome
|
Encephalopathy, Epileptic, Early Infantile
|
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|
