TaoMedAI/RareMedData huggingface dataset:
Gene: ACADM
Phenotype: Myopathy (HP:0003198)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Elevated urinary 3-hydroxybutyric acid (HP:0040155)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Fatigue (HP:0012378)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADM
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (OMIM:201450)
Gene: ACADM
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Medium chain acyl-CoA dehydrogenase deficiency; ACADM deficiency; MCAD deficiency; MCADD; Medium chain acyl-coenzyme A dehydrogenase deficiency; Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency (ORPHA:42)
Gene: ACADS
Phenotype: Increased level of methylsuccinic acid in urine (HP:0410153)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Hypertonia (HP:0001276)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Lethargy (HP:0001254)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Lethargy (HP:0001254)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Seizure (HP:0001250)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Seizure (HP:0001250)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Hypotonia (HP:0001252)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Ataxia (HP:0001251)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Dystonia (HP:0001332)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Scoliosis (HP:0002650)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Floppy infant (HP:0008947)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Respiratory distress (HP:0002098)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Infantile onset (HP:0003593)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Sutural cataract (HP:0010695)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Episodic metabolic acidosis (HP:0004911)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Hypoglycemic encephalopathy (HP:0006929)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Psychosis (HP:0000709)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Childhood onset (HP:0011463)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Myopathy (HP:0003198)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Myopathy (HP:0003198)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Ethylmalonic aciduria (HP:0003219)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Microcephaly (HP:0000252)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: SCADD; ACADS deficiency; Short chain acyl-CoA dehydrogenase deficiency; SCAD deficiency (ORPHA:26792)
Gene: ACADS
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADS
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF (OMIM:201470)
Gene: ACADSB
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Motor delay (HP:0001270)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Lethargy (HP:0001254)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Seizure (HP:0001250)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Hypotonia (HP:0001252)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Apneic episodes in infancy (HP:0005949)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Hypothermia (HP:0002045)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: 2-ethylhydracylic aciduria (HP:0033220)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Infantile onset (HP:0003593)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Childhood onset (HP:0011463)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Microcephaly (HP:0000252)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADSB
Phenotype: Exotropia (HP:0000577)
Associated disease: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:610006)
Gene: ACADVL
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Lethargy (HP:0001254)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Lethargy (HP:0001254)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Hypotonia (HP:0001252)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Diminished tissue very long-chain acyl-CoA dehydrogenase activity (HP:6000860)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Floppy infant (HP:0008947)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Tachypnea (HP:0002789)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Tachypnea (HP:0002789)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Hepatocellular necrosis (HP:0001404)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Vomiting (HP:0002013)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Respiratory distress (HP:0002098)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Pneumonia (HP:0002090)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Muscle spasm (HP:0003394)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Hypothermia (HP:0002045)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Necrotizing enterocolitis (HP:0033165)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Infantile onset (HP:0003593)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Exercise-induced myoglobinuria (HP:0008305)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Exercise-induced rhabdomyolysis (HP:0009045)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Exercise-induced rhabdomyolysis (HP:0009045)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Increased circulating free fatty acid level (HP:0030781)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Jaundice (HP:0000952)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Arrhythmia (HP:0011675)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Macrocephaly (HP:0000256)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Microcephaly (HP:0000252)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Overweight (HP:0025502)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Death in infancy (HP:0001522)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Small for gestational age (HP:0001518)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Obesity (HP:0001513)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Tachycardia (HP:0001649)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF (OMIM:201475)
Gene: ACADVL
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)
Gene: ACADVL
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VLCAD deficiency; Very long chain acyl-CoA dehydrogenase deficiency; VLCADD (ORPHA:26793)