Diseases |
Alias |
|
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
LCHAD DEFICIENCY
|
Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency
|
AFLP
|
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
|
Fatty Liver, Acute, Of Pregnancy
|
Acute Fatty Liver Of Pregnancy
|
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency
|
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency
|
Trifunctional Protein Deficiency, Type 1
|
Hellp Syndrome, Maternal, Of Pregnancy
|
Acute Fatty Liver, Gestational
|
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency
|
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency
|
Lchadd
|
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency
|
Maternal Acute Fatty Liver Of Pregnancy
|
Trifunctional Protein Deficiency Type 1
|
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
|
|
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
|
|
|
Hellp Syndrome |
Hemolysis, Elevated Liver Enzymes, Lowered Platelets
|
Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy
|
Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome
|
Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet]
|
Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome
|
|
|
Ruvalcaba Syndrome |
|
|
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
|
|
|
Sudden Infant Death Syndrome |
SIDS
|
Sudden Infant Death Syndrome, Susceptibility To
|
Cot Death
|
Crib Death
|
Sudden Death Of Nonspecific Cause In Infancy
|
Sudden Infant Death
|
Death, Sudden, Syndrome, Infant
|
|
|
Abetalipoproteinemia |
Acanthocytosis
|
ABL
|
Bassen-Kornzweig Syndrome
|
Mtp Deficiency
|
Familial Hypobetalipoproteinemia
|
Abetalipoproteinaemia
|
Microsomal Triglyceride Transfer Protein Deficiency
|
Microsomal Triglyceride Transfer Protein Deficiency Disease
|
Abetalipoproteinemia Neuropathy
|
Apolipoprotein B Deficiency
|
Bassen-Kornzweig Disease
|
Betalipoprotein Deficiency Disease
|
Congenital Betalipoprotein Deficiency Syndrome
|
Homozygous Familial Hypobetalipoproteinemia
|
Fhbl
|
Bassen Kornzweig Syndrome
|
Hypobetalipoproteinemia, Familial
|
Hypobetalipoproteinemia
|
Hypobetalipoproteinemias
|
Hypobetalipoproteinemia, Familial, Apolipoprotein B
|
|
|
Hypoglycemia |
Hypoglycaemia
|
Low Blood Sugar
|
Hypoglycaemia Nos
|
Spontaneous Hypoglycaemia
|
Nondiabetic Hypoglycaemia
|
Hypoglycaemic Disorder Nos
|
Hypoglycaemic Syndrome
|
|
|
Placenta Disease |
Placenta Diseases
|
Placenta Disorder
|
Pregnancy Complications
|
Placenta Disorders
|
|
|
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
|
|
|
Lactic Acidosis |
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
Maple Syrup Urine Disease |
MSUD
|
Bckd Deficiency
|
Branched-Chain Ketoaciduria
|
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
|
Keto Acid Decarboxylase Deficiency
|
Maple Syrup Urine Disease, Type Ii
|
Branched Chain Ketoaciduria
|
Classic Maple Syrup Urine Disease
|
Intermittent Maple Syrup Urine Disease
|
Maple Syrup Urine Disease, Type Ia
|
Ketoacidaemia
|
Bckdh Deficiency
|
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency
|
Thiamine-Responsive Maple Syrup Urine Disease
|
Intermediate Maple Syrup Urine Disease
|
Maple Syrup Urine Disease Type 1a
|
Maple Syrup Urine Disease Type 1b
|
Maple Syrup Urine Disease Type 2
|
Maple Syrup Urine Disease, Type Ib
|
Dihydrolipoamide Dehydrogenase Deficiency
|
Branched-Chain Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Disease
|
Ketoacidemia
|
Classic Bckd Deficiency
|
Classic Msud
|
Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
Classic Branched-Chain Ketoaciduria
|
Thiamine-Responsive Bckd Deficiency
|
Thiamine-Responsive Msud
|
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
Intermittent Bckd Deficiency
|
Intermittent Msud
|
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Urine Disease 1a
|
MSUD1A
|
Maple Syrup Urine Disease Type Ia
|
Msud Type Ia
|
Maple Syrup Urine Disease 1b
|
MSUD1B
|
Maple Syrup Urine Disease Type Ib
|
Msud Type Ib
|
Maple Syrup Urine Disease 2
|
MSUD2
|
Maple Syrup Urine Disease Type Ii
|
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
|
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]
|
Maple-Syrup-Urine Disorder
|
Maple-Syrup-Urine Syndrome
|
|
|
Liver Disease |
Liver Failure
|
Liver Diseases
|
Abnormality Of The Liver
|
Liver Dysfunction
|
Disorder Of Liver
|
Hepatic Disorder
|
Hepatic Disease
|
Disease Of Bilirubin Metabolism
|
Disorder Of Bilirubin Metabolism
|
Liver Decompensation
|
Liver Function Failure
|
Hepatic Failure Nos
|
Liver Failure Nos
|
End Stage Liver Disease
|
Decompensated Liver Failure
|
Decompensation Of Liver Function
|
Hepatic Decompensation
|
Hepatic Insufficiency
|
Liver Cell Necrosis With Hepatic Failure
|
Liver Insufficiency
|
Decompensated Liver Disease
|
End Stage Liver Failure
|
Liver Necrosis With Hepatic Failure
|
|
|
Myopathy |
Muscular Diseases
|
Myopathies
|
|
|
Phenylketonuria |
Phenylalanine Hydroxylase Deficiency
|
PKU
|
Pah Deficiency
|
Folling Disease
|
Maternal Phenylketonuria
|
Phenylketonurias
|
Oligophrenia Phenylpyruvica
|
Hyperphenylalaninemia, Non-Pku Mild
|
Folling'S Disease
|
Phenylalaninemia
|
Mild Phenylketonuria
|
Mild Pku
|
Variant Pku
|
Variant Phenylketonuria
|
Mpku
|
Deficiency Disease, Phenylalanine Hydroxylase
|
Phenylketonuria, Maternal
|
Phenylalanine Hydroxylase Deficiency Disease
|
Hyperphenylalaninemic Embryopathy
|
Maternal Pku
|
Maternal Hyperphenylalaninemia
|
Phenylketonuric Embryopathy
|
Hyperphenylalaninemia
|
HPA
|
Non-Phenylketonuria Hyperphenylalaninemia
|
NON-PKU HPA
|
Phenylketonuria Maternal
|
Classical Phenylketonuria
|
Hyperphenylalaninaemia
|
Pku - [Phenylketonuria]
|
|
|
Carnitine-Acylcarnitine Translocase Deficiency |
Cact Deficiency
|
Carnitine Acylcarnitine Translocase Deficiency
|
CACTD
|
Carnitine-Acylcarnitine Carrier Deficiency
|
|
|
Erythroleukemia |
|
|
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
|
|
|
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
|
|
|
Neuropathy |
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
Homocystinuria |
Cystathionine Beta Synthase Deficiency
|
Homocysteinemia
|
Cbs Deficiency
|
Cystathionine Synthase Deficiency
|
Cystathionine Beta-Synthase Deficiency Disease
|
|
|
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
|
|
|
Atrial Standstill 1 |
ATRST1
|
Atrial Cardiomyopathy With Heart Block
|
Cardiomyopathy, Familial, With Conduction Disturbance
|
Atrial Standstill, Digenic
|
Familial Cardiomyopathy With Conduction Disturbance
|
Standstill, Atrial, Type 1
|
Heart Block
|
Cardiomyopathies
|
Idiopathic Cardiomyopathy
|
Idiopathic Cardiopathy
|
Primary Myocardial Disease
|
Primary Cardiomyopathy
|
Myocardiopathy
|
Myocardosis
|
Primary Idiopathic Myocardial Disease
|
|
|
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
|
|
|
Isovaleric Acidemia |
Isovaleric Acid Coa Dehydrogenase Deficiency
|
Isovaleryl-Coa Dehydrogenase Deficiency
|
IVA
|
Ivd Deficiency
|
Acidemia, Isovaleric
|
Isovaleric Aciduria
|
Isovaleryl Coa Carboxylase Deficiency
|
Isovaleric Acid-Coa Dehydrogenase Deficiency
|
|
|
Respiratory Failure |
Acute Respiratory Failure
|
Chronic Respiratory Failure
|
Respiratory Insufficiency
|
Acute-On-Chronic Respiratory Failure
|
Respiratory Disease
|
Acute And Chronic Respiratory Failure
|
Respiratory Insufficiency/Failure
|
Chronic Respiratory Disease
|
Pulmonary Valve Insufficiency
|
Chronic Disease Of Respiratory System
|
Respiration Disorders
|
Respiratory Tract Diseases
|
Lung Failure Nos
|
Pulmonary Failure
|
Arf - [Acute Respiratory Failure]
|
Acute Respiratory Insufficiency
|
Acute Pulmonary Insufficiency
|
Acute Respiration Failure
|
Chronic Respiration Failure
|
|
|
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
|
|
|
Cardiomyopathy, Dilated, 1gg |
Dilated Cardiomyopathy 1gg
|
CMD1GG
|
Cardiomyopathy, Dilated 1gg
|
Cardiomyopathy, Dilated, Type 1gg
|
|
|
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
|
|
|
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
|
|
|
Complement Component 2 Deficiency |
C2D
|
C2 Deficiency
|
Complement 2 Deficiency
|
Complement Component-2
|
|
|
Prothrombin Thrombophilia |
Prothrombin G20210a Thrombophilia
|
Hyperprothrombinemia
|
|
|
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
|
|
|
Multiple Carboxylase Deficiency |
Mcd
|
Holocarboxylase Synthetase Deficiency
|
|
|
Biotinidase Deficiency |
Late-Onset Multiple Carboxylase Deficiency
|
BTD DEFICIENCY
|
Multiple Carboxylase Deficiency, Late-Onset
|
Multiple Carboxylase Deficiency, Juvenile-Onset
|
Juvenile-Onset Multiple Carboxylase Deficiency
|
Biotin Deficiency
|
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
Deficiency Of Biotinidase
|
Biot
|
Carboxylase Deficiency, Multiple, Late-Onset
|
Late-Onset Mcd
|
Mcd Juvenile Form
|
Biotin Deficiency Disease
|
|
|
Lipoid Congenital Adrenal Hyperplasia |
Congenital Adrenal Hyperplasia
|
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
|
Congenital Lipoid Adrenal Hyperplasia
|
Lipoid Cah
|
Lipoid Adrenal Hyperplasia
|
Adrenal Hyperplasia 1
|
Cah
|
Clah
|
LCAH
|
Adrenal Hyperplasia I
|
Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism
|
Congenital Adrenal Hyperplasia Lipoid
|
Adrenal Hyperplasia, Congenital
|
Congenital Adrenal Hyperplasia, Lipoid
|
AH1
|
Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism
|
Adrenal Hyperplasia Congenital
|
Hyperplasia, Adrenal, Lipoid, Congenital
|
Congenital Adrenogenital Disorders Associated With Enzyme Deficiency
|
Congenital Adrenal Cortical Hyperplasia
|
Congenital Adrenal Gland Hyperplasia
|
Congenital Adrenogenital Syndrome
|
Congenital Hyperadrenocorticism
|
Congenital Adrenogenitalism
|
Congenital Female Adrenal Pseudohermaphroditism
|
|
|
Argininemia |
Hyperargininemia
|
Arginase Deficiency
|
Arg1 Deficiency
|
Arginase-1 Deficiency
|
Deficiency Of Canavanase
|
Arginase Deficiency Disease
|
ARGIN
|
|
|
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
|
|
|
Abdominal Obesity-Metabolic Syndrome 1 |
Metabolic Syndrome X
|
Metabolic Syndrome
|
AOMS1
|
Dysmetabolic Syndrome X
|
Metabolic Disease
|
Abdominal Obesity Metabolic Syndrome
|
|
|
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
|
|
|
Giant Axonal Neuropathy 1, Autosomal Recessive |
Giant Axonal Neuropathy
|
Giant Axonal Neuropathy 1
|
Gan
|
GAN1
|
Giant Axonal Neuropathy-1
|
Neuropathy, Giant Axonal
|
Giant Axonal Disease
|
Neuropathy, Axonal, Giant, Type 1
|
|
|
Urea Cycle Disorder |
Urea Cycle Disorders
|
Urea Cycle Disorders, Inborn
|
Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia
|
Disorder Of Urea Cycle Metabolism
|
Urea Cycle Defect
|
Ucd
|
Disorder Of The Urea Cycle Metabolism
|
Disorder Of Urea Cycle
|
Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia
|
Ammonia Metabolic Disorder
|
|
|
Alpha-Methylacetoacetic Aciduria |
Beta-Ketothiolase Deficiency
|
3-Ketothiolase Deficiency
|
3-Oxothiolase Deficiency
|
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency
|
Alpha-Methylacetoaceticaciduria
|
Mat Deficiency
|
T2 Deficiency
|
2-Methyl-3-Hydroxybutyricacidemia
|
Beta Ketothiolase Deficiency
|
Pseudo-Zellweger Syndrome
|
2-Methyl-3-Hydroxybutyric Acidemia
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3-Ktd Deficiency
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Peroxisomal Thiolase Deficiency
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2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency
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3-Alpha-Oxothiolase Deficiency
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Methylacetoacetyl-Coenzyme A Thiolase Deficiency
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Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated
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Β-Ketothiolase Deficiency
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Alpha Methylacetoacetic Aciduria
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Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency
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Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency
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3KTD
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Aciduria, Alpha-Methylacetoacetic
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Deficiency Of Acetyl-Coa Acetyltransferase
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Deficiency Of Acetyl-Coa Acyltransferase
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Hepatic Methionine Adenosyltransferase Deficiency
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Bifunctional Peroxisomal Enzyme Deficiency
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Liver Leiomyosarcoma |
Leiomyosarcoma Of The Liver
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Methylmalonic Acidemia |
Methylmalonic Aciduria
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Mma
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Acidemia, Methylmalonic
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Isolated Methylmalonic Acidemia
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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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Dilated Cardiomyopathy |
Familial Dilated Cardiomyopathy
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Primary Dilated Cardiomyopathy
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Idiopathic Dilated Cardiomyopathy
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Congestive Cardiomyopathy
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Idiopathic Dilation Cardiomyopathy
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Primary Familial Dilated Cardiomyopathy
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Cardiomyopathy, Dilated
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DCM
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Cardiomyopathy, Familial Dilated
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Dilated Cardiomyopathy, Familial
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Hypokinetic Dilated Cardiomyopathy, Familial
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Familial Idiopathic Cardiomyopathy
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Fdc
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Cardiomyopathy, Familial Idiopathic
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Idiopathic Cardiomegaly
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Dilated Congestive Cardiomyopathy
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Chronic Dilated Cardiomyopathy
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Ccm - [Congestive Cardiomyopathy]
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Cocm - [Congestive Cardiomyopathy]
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Dcm - [Dilated Cardiomyopathy]
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Dilated-Hypokinetic Cardiomyopathy
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Congestive Idiopathic Cardiomyopathy
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Primary Idiopathic Dilated Cardiomyopathy
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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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