TaoMedAI/RareMedData huggingface dataset:
Gene: CPT2
Phenotype: Red-brown urine (HP:0040320)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Elevated circulating long chain fatty acid concentration (HP:0003455)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Elevated circulating long chain fatty acid concentration (HP:0003455)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Cold-induced muscle cramps (HP:0003449)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Cold-induced muscle cramps (HP:0003449)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Apnea (HP:0002104)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Decreased plasma total carnitine (HP:0011936)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Decreased plasma total carnitine (HP:0011936)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Decreased plasma total carnitine (HP:0011936)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Cerebral edema (HP:0002181)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 (OMIM:614212)
Gene: CPT2
Phenotype: Long toe (HP:0010511)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Long-chain dicarboxylic aciduria (HP:0008293)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Antenatal intracerebral hemorrhage (HP:0007023)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Intermittent painful muscle spasms (HP:0011964)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Intermittent painful muscle spasms (HP:0011964)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Decreased serum bicarbonate concentration (HP:0032066)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Decreased plasma free carnitine (HP:0008315)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Decreased plasma free carnitine (HP:0008315)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Decreased plasma free carnitine (HP:0008315)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Headache (HP:0002315)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Fever (HP:0001945)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 (OMIM:614212)
Gene: CPT2
Phenotype: Fever (HP:0001945)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Tapered toe (HP:0011309)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Hypoglycemic encephalopathy (HP:0006929)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Cystic renal dysplasia (HP:0000800)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Heart block (HP:0012722)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Fetal onset (HP:0011461)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Myopathy (HP:0003198)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)
Gene: CPT2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: CPTII, lethal systemic form; CPT2, neonatal form; CPT2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; Carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, neonatal form (ORPHA:228308)
Gene: CPT2
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: Carnitine palmitoyl transferase deficiency type 2, myopathic form; Carnitine palmitoyl transferase II deficiency, adult-onset form; Carnitine palmitoyl transferase II deficiency, myopathic form; CPT2, myopathic form; CPTII, adult-onset form; Carnitine palmitoyl transferase deficiency type 2, adult-onset form; CPT2, adult-onset form; CPTII, myopathic form (ORPHA:228302)
Gene: CPT2
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: CPT2, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, severe infantile form; CPT2, severe infantile form; Carnitine palmitoyl transferase II deficiency, severe infantile form; CPTII, hepatocardiomuscular form; Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form; Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form; CPTII, severe infantile form (ORPHA:228305)