SLC22A5 - solute carrier family 22 member 5 Gene

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

Fatty Metamorphosis Of Viscera

Steatosis Of Liver

White Liver Disease

Visceral Steatosis

Fatty Liver Disease, Congenital

Fatal Neonatal Hepatic Steatosis

Steatohepatitis

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

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

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

Muscular Diseases

Myopathies

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

IBD5

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Cact Deficiency

Carnitine Acylcarnitine Translocase Deficiency

CACTD

Carnitine-Acylcarnitine Carrier Deficiency

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

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'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 Diseases

Bowel Disease, Inflammatory

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

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

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, Susceptibility To

Psoriatic Arthropathy

Arthropathic Psoriasis

Arthritis, Psoriatic

Arthritis Psoriatica

PSORAS

Arthritic Psoriasis

Psoriasis Arthropathica

Arthritis Psoriatic

Arthritis, Psoriatic, Susceptibility To

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

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

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

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

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

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

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

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 Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia