| 疾病名称 |
别名 |
|
| Carnitine Deficiency, Systemic Primary |
|
Carnitine Uptake Defect
|
Renal Carnitine Transport Defect
|
|
Systemic Primary Carnitine Deficiency
|
CDSP
|
|
Systemic Carnitine Deficiency
|
Carnitine Transporter Deficiency
|
|
Cud
|
Primary Carnitine Deficiency
|
|
Carnitine Uptake Deficiency
|
Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
|
|
Carnitine Deficiency, Primary
|
Systemic Primary Carnitine Deficiency Disease
|
|
Deficiency Of Plasma-Membrane Carnitine Transporter
|
Scd
|
|
Carnitine Transporter, Plasma-Membrane, Deficiency Of
|
Carnitine Transport Defect
|
|
Carnitine Plasma-Membrane Transporter Deficiency
|
Carnitine Transporter Defect
|
|
Spcd
|
|
|
| Visceral Steatosis, Congenital |
|
Fatty Metamorphosis Of Viscera
|
Steatosis Of Liver
|
|
White Liver Disease
|
Visceral Steatosis
|
|
Fatty Liver Disease, Congenital
|
Fatal Neonatal Hepatic Steatosis
|
|
Steatohepatitis
|
|
|
| Cardiomyopathy, Dilated, 1a |
|
Dilated Cardiomyopathy 1a
|
Cdcd1
|
|
CMD1A
|
Cardiomyopathy, Familial Idiopathic
|
|
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
|
Cardiomyopathy, Dilated, With Conduction Defect 1
|
|
Cardiomyopathy, Idiopathic Dilated
|
Cardiomyopathy, Congestive
|
|
Dilated Cardiomyopathy With Conduction Defect 1
|
Cardiomyopathy Dilated With Conduction Defect Type 1
|
|
Cardiomyopathy, Dilated 1a
|
Cardiomyopathy Dilated With Conduction Defect 1
|
|
Cardiomyopathy, Dilated, Type 1a
|
|
|
| Cardiomyopathy, Dilated, 1h |
|
Dilated Cardiomyopathy 1h
|
Dilated Cardiomyopathy With Conduction Defect
|
|
CMD1H
|
Cardiomyopathy, Dilated, With Conduction Defect
|
|
|
| Hypoglycemia |
|
Hypoglycaemia
|
Low Blood Sugar
|
|
Hypoglycaemia Nos
|
Spontaneous Hypoglycaemia
|
|
Nondiabetic Hypoglycaemia
|
Hypoglycaemic Disorder Nos
|
|
Hypoglycaemic Syndrome
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Inflammatory Bowel Disease 5 |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cact Deficiency
|
Carnitine Acylcarnitine Translocase Deficiency
|
|
CACTD
|
Carnitine-Acylcarnitine Carrier Deficiency
|
|
|
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Scad Deficiency
|
Acads Deficiency
|
|
Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency
|
Scadh Deficiency
|
|
Short-Chain Acyl-Coa Dehydrogenase Deficiency
|
Deficiency Of Butyryl-Coa Dehydrogenase
|
|
Short Chain Acyl-Coa Dehydrogenase Deficiency
|
ACADSD
|
|
Scadd
|
Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
|
Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of
|
Acyl-Coa Dehydrogenase Short-Chain Deficiency
|
|
|
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Mcad Deficiency
|
Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency
|
|
Acadm Deficiency
|
Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of
|
|
Medium Chain Acyl-Coa Dehydrogenase Deficiency
|
ACADMD
|
|
Mcadh Deficiency
|
Mcadd
|
|
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
Acyl-Coa Dehydrogenase Medium-Chain Deficiency
|
|
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
Medium Chain Acyl Dehydrogenase Deficiency
|
|
|
| Reye Syndrome |
|
Reye'S Syndrome
|
Rasmussen Encephalitis
|
|
Fatty Liver With Encephalopathy
|
Rasmussen'S Encephalitis
|
|
Re
|
Rs
|
|
Rasmussen Syndrome
|
Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome
|
|
Reye Encephalopathy
|
|
|
| Inflammatory Bowel Disease |
|
Inflammatory Bowel Diseases
|
Bowel Disease, Inflammatory
|
|
|
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
3-Methylcrotonylglycinuria
|
Mcc Deficiency
|
|
Methylcrotonyl-Coa Carboxylase Deficiency
|
Bmcc Deficiency
|
|
3-Mcc Deficiency
|
3mcc
|
|
Mccd
|
3mcc Deficiency
|
|
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency
|
3-Mcc
|
|
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency
|
Deficiency Of Methylcrotonoyl-Coa Carboxylase
|
|
3-Methyl Crotonyl-Coa Carboxylase Deficiency
|
3-Methylcrotonyl Coa Carboxylase 1 Deficiency
|
|
|
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Carnitine Palmitoyltransferase Ii Deficiency
|
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
|
|
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset
|
Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia
|
|
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular
|
Cpt Ii Deficiency, Hepatic
|
|
Cpt2 Deficiency, Infantile
|
Cpt Ii Deficiency, Infantile
|
|
Cpt Ii Deficiency
|
Carnitine Palmitoyltransferase 2 Deficiency
|
|
Cpt2
|
Carnitine Palmitoyltransferase Deficiency Type 2
|
|
Carnitine Palmitoyl Transferase 2 Deficiency
|
Cpt-Ii
|
|
Infantile Carnitine Palmitoyltransferase Ii Deficiency
|
Late-Onset Carnitine Palmitoyltransferase Ii Deficiency
|
|
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency
|
Carnitine Palmitoyltransferase Ii Deficiency
|
|
Cpt2 Deficiency
|
Cptii
|
|
Cpt2, Hepatocardiomuscular Form
|
Cpt2, Severe Infantile Form
|
|
Cptii, Hepatocardiomuscular Form
|
Cptii, Severe Infantile Form
|
|
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form
|
Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form
|
|
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form
|
Carnitine Palmitoyltransferase 2 Deficiency, Infantile
|
|
CPT2DI
|
Cpt Deficiency, Hepatic, Type Ii
|
|
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
|
|
|
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Vlcad Deficiency
|
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
|
|
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
Lcad Deficiency
|
|
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency
|
Long Chain Acyl-Coa Dehydrogenase Deficiency
|
|
ACADVLD
|
Acadl Deficiency
|
|
Vlcadd
|
Long-Chain Acyl-Coa Dehydrogenase Deficiency
|
|
Acadvl
|
Acyl-Coa Dehydrogenase Very Long Chain Deficiency
|
|
Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency
|
Vlcad-C
|
|
Vlcad-H
|
Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of
|
|
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency
|
Acyl-Coa Dehydrogenase Long-Chain Deficiency
|
|
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase
|
Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
|
|
|
| Psoriatic Arthritis |
|
Psoriatic Arthritis, Susceptibility To
|
Psoriatic Arthropathy
|
|
Arthropathic Psoriasis
|
Arthritis, Psoriatic
|
|
Arthritis Psoriatica
|
PSORAS
|
|
Arthritic Psoriasis
|
Psoriasis Arthropathica
|
|
Arthritis Psoriatic
|
Arthritis, Psoriatic, Susceptibility To
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Carnitine Palmitoyltransferase I Deficiency |
|
Carnitine Palmitoyl Transferase 1a Deficiency
|
Cpt1a Deficiency
|
|
Cpt I Deficiency
|
Carnitine Palmitoyl Transferase Ia Deficiency
|
|
Hepatic Carnitine Palmitoyl Transferase 1 Deficiency
|
Hepatic Carnitine Palmitoyl Transferase I Deficiency
|
|
L-Cpt1 Deficiency
|
Carnitine Palmitoyltransferase 1a Deficiency
|
|
Carnitine Palmitoyltransferase Ia Deficiency
|
Cpt Deficiency, Hepatic, Type I
|
|
Cpt Deficiency, Hepatic, Type Ia
|
Hepatic Carnitine Palmitoyltransferase 1 Deficiency
|
|
L-Cpti Deficiency
|
Hepatic Cpt Deficiency Type I
|
|
Hepatic Cpt1
|
L-Cpt 1 Deficiency
|
|
Cpt 1a Deficiency
|
Liver Form Of Carnitine Palmitoyltransferase Deficiency
|
|
CPT1AD
|
Cpt-I Deficiency
|
|
|
| Glutaric Acidemia I |
|
Glutaryl-Coa Dehydrogenase Deficiency
|
GA1
|
|
Glutaric Acidemia Type 1
|
Glutaric Aciduria 1
|
|
Glutaric Aciduria Type 1
|
Glutaric Acidemia Type I
|
|
Glutaric Aciduria, Type 1
|
Glutaric Aciduria I
|
|
Ga I
|
Glutaricaciduria, Type I
|
|
Glutaryl-Coenzyme A Dehydrogenase Deficiency
|
Glutaric Academia Type 1
|
|
Glutaric Aciduria Type I
|
Ga-1
|
|
Gcdh Deficiency
|
Ga 1
|
|
Glutaric Acidemia 1
|
Gcdhd
|
|
Glutaric Aciduria, Type I
|
Glutaricaciduria I
|
|
Ga-I
|
Glutaricaciduria, Type 1
|
|
|
| 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
|
|
|
| Citrullinemia, Classic |
|
Citrullinemia
|
Classic Citrullinemia
|
|
Argininosuccinate Synthetase Deficiency
|
Ass Deficiency
|
|
Citrullinemia Type I
|
CTLN1
|
|
Citrullinuria
|
Citrullinemia, Type I
|
|
Argininosuccinic Acid Synthetase Deficiency
|
Ctnl1
|
|
Citrullinemia 1
|
Deficiency Of Citrulline-Aspartate Ligase
|
|
Cit
|
Argininosuccinate Synthase Deficiency
|
|
Argininosuccinic Acid Synthase Deficiency
|
Citrullinemia Type 1
|
|
Citrullinemia Classical
|
|
|
| Inflammatory Bowel Disease 1 |
|
Inflammatory Bowel Disease 1
|
IBD1
|
|
Crohn Disease-Associated Growth Failure
|
Crohn Disease
|
|
Regional Enteritis
|
Ulcerative Colitis
|
|
Crohn Disease-Associated Growth Failure, Susceptibility To
|
Inflammatory Bowel Disease 1, Crohn Disease
|
|
Bowel Disease, Inflammatory, Type 1
|
|
|
| Mitochondrial Trifunctional Protein Deficiency |
|
Tfp Deficiency
|
MTPD
|
|
Trifunctional Protein Deficiency
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
|
Tfpd
|
Familial Hypertrophic Cardiomyopathy
|
|
Cardiomyopathy Familial Hypertrophic
|
Familial Hcm
|
|
Heritable Hypertrophic Cardiomyopathy
|
Mtp Deficiency
|
|
Tpa Deficiency
|
Trifunctional Protein Deficiency, Type 2
|
|
Abetalipoproteinemia
|
|
|
| Propionic Acidemia |
|
Ketotic Hyperglycinemia
|
Propionyl-Coa Carboxylase Deficiency
|
|
Pcc Deficiency
|
Propionicacidemia
|
|
Glycinemia, Ketotic
|
Hyperglycinemia With Ketoacidosis And Leukopenia
|
|
Ketotic Glycinemia
|
Propionic Aciduria
|
|
Prop
|
Acidemia, Propionic
|
|
PA-1
|
Ketotic Ii Glycinemia
|
|
Hyperglycinemia, Ketotic
|
Propionic Acidemia Type I
|
|
Propionic Acidemia Type Ii
|
PA-2
|
|
Propionicaciduria
|
|
|
| Methylmalonic Acidemia |
|
Methylmalonic Aciduria
|
Mma
|
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
