TaoMedAI/RareMedData huggingface dataset:
Gene: HADHA
Phenotype: Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts (HP:6001024)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Photophobia (HP:0000613)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
Gene: HADHA
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Myopathy (HP:0003198)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Posterior staphyloma (HP:0030856)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Respiratory failure (HP:0002878)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Abnormality of the amniotic fluid (HP:0001560)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Diffuse hepatic steatosis (HP:0006555)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Sudden death (HP:0001699)
Associated disease: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
Gene: HADHA
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
Gene: HADHA
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Retinopathy (HP:0000488)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Pes cavus (HP:0001761)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHA
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Gene: HADHA
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
Gene: HADHA
Phenotype: Exotropia (HP:0000577)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Visual loss (HP:0000572)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHA
Phenotype: Myopia (HP:0000545)
Associated disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; LCHAD deficiency (ORPHA:5)
Gene: HADHB
Phenotype: Rigors (HP:0025145)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Primitive reflex (HP:0002476)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Skeletal myopathy (HP:0003756)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Motor delay (HP:0001270)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Areflexia (HP:0001284)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Lethargy (HP:0001254)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Seizure (HP:0001250)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Hypotonia (HP:0001252)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Coma (HP:0001259)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Neonatal death (HP:0003811)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Cholestasis (HP:0001396)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Increased circulating NT-proBNP concentration (HP:0031185)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Hypotension (HP:0002615)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Poor suck (HP:0002033)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Myalgia (HP:0003326)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Myalgia (HP:0003326)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Decreased patellar reflex (HP:0011808)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Equinus calcaneus (HP:0008138)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Babinski sign (HP:0003487)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Distal peripheral sensory neuropathy (HP:0007067)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Frequent falls (HP:0002359)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Recurrent myoglobinuria (HP:0003652)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Left ventricular dilatation (HP:4000141)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Arrhythmia (HP:0011675)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Respiratory failure (HP:0002878)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Diffuse hepatic steatosis (HP:0006555)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 (OMIM:620300)
Gene: HADHB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Pes cavus (HP:0001761)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADHB
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: TFPD; Mitochondrial trifunctional protein deficiency; TFP deficiency (ORPHA:746)
Gene: HADH
Phenotype: Decreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Decreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Motor delay (HP:0001270)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Confusion (HP:0001289)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Lethargy (HP:0001254)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hypotonia (HP:0001252)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
Gene: HADH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
Gene: HADH
Phenotype: Abnormal circulating acylcarnitine concentration (HP:0012071)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)