TaoMedAI/RareMedData huggingface dataset:
Gene: CPT1A
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Hepatic carnitine palmitoyl transferase 1 deficiency; Hepatic carnitine palmitoyl transferase I deficiency; CPT1A deficiency; Carnitine palmitoyl transferase 1A deficiency; Carnitine palmitoyl transferase IA deficiency; L-CPT1 deficiency; L-CPTI deficiency (ORPHA:156)
Gene: CPT1A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Hepatic carnitine palmitoyl transferase 1 deficiency; Hepatic carnitine palmitoyl transferase I deficiency; CPT1A deficiency; Carnitine palmitoyl transferase 1A deficiency; Carnitine palmitoyl transferase IA deficiency; L-CPT1 deficiency; L-CPTI deficiency (ORPHA:156)
Gene: CPT1A
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Fatigue (HP:0012378)
Associated disease: Hepatic carnitine palmitoyl transferase 1 deficiency; Hepatic carnitine palmitoyl transferase I deficiency; CPT1A deficiency; Carnitine palmitoyl transferase 1A deficiency; Carnitine palmitoyl transferase IA deficiency; L-CPT1 deficiency; L-CPTI deficiency (ORPHA:156)
Gene: CPT1A
Phenotype: Ketonuria (HP:0002919)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Hepatic carnitine palmitoyl transferase 1 deficiency; Hepatic carnitine palmitoyl transferase I deficiency; CPT1A deficiency; Carnitine palmitoyl transferase 1A deficiency; Carnitine palmitoyl transferase IA deficiency; L-CPT1 deficiency; L-CPTI deficiency (ORPHA:156)
Gene: CPT1A
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Hepatic carnitine palmitoyl transferase 1 deficiency; Hepatic carnitine palmitoyl transferase I deficiency; CPT1A deficiency; Carnitine palmitoyl transferase 1A deficiency; Carnitine palmitoyl transferase IA deficiency; L-CPT1 deficiency; L-CPTI deficiency (ORPHA:156)
Gene: CPT1A
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Hepatic carnitine palmitoyl transferase 1 deficiency; Hepatic carnitine palmitoyl transferase I deficiency; CPT1A deficiency; Carnitine palmitoyl transferase 1A deficiency; Carnitine palmitoyl transferase IA deficiency; L-CPT1 deficiency; L-CPTI deficiency (ORPHA:156)
Gene: CPT2
Phenotype: Tapered finger (HP:0001182)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
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: Intracerebral periventricular calcifications (HP:0007229)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Intracerebral periventricular calcifications (HP:0007229)
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: Exercise-induced myalgia (HP:0003738)
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-induced myalgia (HP:0003738)
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: Exercise-induced muscle cramps (HP:0003710)
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-induced muscle cramps (HP:0003710)
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: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 (OMIM:614212)
Gene: CPT2
Phenotype: Generalized hypotonia (HP:0001290)
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: Long fingers (HP:0100807)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Agenesis of corpus callosum (HP:0001274)
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: Lethargy (HP:0001254)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Lethargy (HP:0001254)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 (OMIM:614212)
Gene: CPT2
Phenotype: Seizure (HP:0001250)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Coma (HP:0001259)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 (OMIM:614212)
Gene: CPT2
Phenotype: Coma (HP:0001259)
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: Episodic abdominal pain (HP:0002574)
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: Renal tubular epithelial necrosis (HP:0008682)
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: Renal tubular epithelial necrosis (HP:0008682)
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 calcification (HP:0002514)
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: Renal insufficiency (HP:0000083)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Renal insufficiency (HP:0000083)
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: Renal insufficiency (HP:0000083)
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: Hepatic steatosis (HP:0001397)
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: Hepatic steatosis (HP:0001397)
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: Hepatic failure (HP:0001399)
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: Hepatic failure (HP:0001399)
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: Ureteral duplication (HP:0000073)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Muscle weakness (HP:0001324)
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 weakness (HP:0001324)
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: Muscle weakness (HP:0001324)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 (OMIM:614212)
Gene: CPT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 (OMIM:614212)
Gene: CPT2
Phenotype: Dandy-Walker malformation (HP:0001305)
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: Pachygyria (HP:0001302)
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: Cerebellar vermis hypoplasia (HP:0001320)
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: Neonatal hypotonia (HP:0001319)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Neonatal respiratory distress (HP:0002643)
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: Narrow palate (HP:0000189)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: High, narrow palate (HP:0002705)
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: Polycystic kidney dysplasia (HP:0000113)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Polycystic kidney dysplasia (HP:0000113)
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: Hydronephrosis (HP:0000126)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Myalgia (HP:0003326)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED (OMIM:255110)
Gene: CPT2
Phenotype: Myalgia (HP:0003326)
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: Myalgia (HP:0003326)
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: Diarrhea (HP:0002014)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Vomiting (HP:0002013)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE (OMIM:600649)
Gene: CPT2
Phenotype: Vomiting (HP:0002013)
Associated disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL (OMIM:608836)
Gene: CPT2
Phenotype: Red-brown urine (HP:0040320)
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: Red-brown urine (HP:0040320)
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)