TaoMedAI/RareMedData huggingface dataset:
Gene: CPE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Micropenis (HP:0000054)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Floppy infant (HP:0008947)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Gynecomastia (HP:0000771)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Delayed puberty (HP:0000823)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Decreased circulating free T4 concentration (HP:0033078)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Reduced TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033082)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Full cheeks (HP:0000293)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Obesity (HP:0001513)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Micrognathia (HP:0000347)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Round face (HP:0000311)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Macrotia (HP:0000400)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPE
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: BDV SYNDROME (OMIM:619326)
Gene: CPN1
Phenotype: Decreased circulating carboxypeptidase N activity (HP:6000560)
Associated disease: CARBOXYPEPTIDASE N DEFICIENCY (OMIM:212070)
Gene: CPN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARBOXYPEPTIDASE N DEFICIENCY (OMIM:212070)
Gene: CPN1
Phenotype: Urticaria (HP:0001025)
Associated disease: CARBOXYPEPTIDASE N DEFICIENCY (OMIM:212070)
Gene: CPN1
Phenotype: Angioedema (HP:0100665)
Associated disease: CARBOXYPEPTIDASE N DEFICIENCY (OMIM:212070)
Gene: CPN1
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: CARBOXYPEPTIDASE N DEFICIENCY (OMIM:212070)
Gene: CPOX
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Elevated urinary coproporphyrin level (HP:6000536)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Facial hirsutism (HP:0009937)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Confusion (HP:0001289)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Elevated circulating heptacarboxylporphyrin concentration (HP:6000698)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Increased urine harderoporphyrin level (HP:0033627)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Nephropathy (HP:0000112)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Constipation (HP:0002019)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Abdominal pain (HP:0002027)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Dark urine (HP:0040319)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Red urine (HP:0040318)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Diarrhea (HP:0002014)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Vomiting (HP:0002013)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Vomiting (HP:0002013)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Increased fecal harderoporphyrin (HP:0034472)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Increased fecal coproporphyrin III:coproporphyrin I ratio (HP:0034471)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Porphyrinuria (HP:0010473)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Abnormal circulating porphyrin concentration (HP:0010472)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Acute episodes of neuropathic symptoms (HP:0003489)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Back pain (HP:0003418)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Respiratory paralysis (HP:0002203)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Insomnia (HP:0100785)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Paranoia (HP:0011999)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Fragile skin (HP:0001030)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Long hairs growing from helix of pinna (HP:0008528)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Limb pain (HP:0009763)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Fever (HP:0001945)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Anemia (HP:0001903)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Hallucinations (HP:0000738)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Anxiety (HP:0000739)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Depression (HP:0000716)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Psychosis (HP:0000709)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Young adult onset (HP:0011462)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Elevated urinary delta-aminolevulinic acid (HP:0003163)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Elevated urinary delta-aminolevulinic acid (HP:0003163)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Small intestinal dysmotility (HP:0012850)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Hypertension (HP:0000822)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Increased fecal coproporphyrin 3 (HP:0033010)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Jaundice (HP:0000952)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Increased urinary porphobilinogen (HP:0012217)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Increased urinary porphobilinogen (HP:0012217)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Increased urinary porphobilinogen (HP:0012217)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Tachycardia (HP:0001649)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Tachycardia (HP:0001649)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Intrusion symptom (HP:0032936)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Extension of hair growth on temples to lateral eyebrow (HP:0005325)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Hereditary coproporphyria (ORPHA:79273)
Gene: CPOX
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPOX
Phenotype: Splenomegaly (HP:0001744)
Associated disease: COPROPORPHYRIA, HEREDITARY (OMIM:121300)
Gene: CPOX
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HARDEROPORPHYRIA (OMIM:618892)
Gene: CPS1
Phenotype: Stroke (HP:0001297)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Lethargy (HP:0001254)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Seizure (HP:0001250)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Seizure (HP:0001250)
Associated disease: Carbamoyl-phosphate synthetase 1 deficiency; CPS1D; Carbamoyl-phosphate synthetase I deficiency; Carbamoyl-phosphate synthetase deficiency; CPS1 deficiency (ORPHA:147)
Gene: CPS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Carbamoyl-phosphate synthetase 1 deficiency; CPS1D; Carbamoyl-phosphate synthetase I deficiency; Carbamoyl-phosphate synthetase deficiency; CPS1 deficiency (ORPHA:147)
Gene: CPS1
Phenotype: Ataxia (HP:0001251)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Coma (HP:0001259)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Carbamoyl-phosphate synthetase 1 deficiency; CPS1D; Carbamoyl-phosphate synthetase I deficiency; Carbamoyl-phosphate synthetase deficiency; CPS1 deficiency (ORPHA:147)
Gene: CPS1
Phenotype: Vomiting (HP:0002013)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Hypoargininemia (HP:0005961)
Associated disease: Carbamoyl-phosphate synthetase 1 deficiency; CPS1D; Carbamoyl-phosphate synthetase I deficiency; Carbamoyl-phosphate synthetase deficiency; CPS1 deficiency (ORPHA:147)
Gene: CPS1
Phenotype: Hypoargininemia (HP:0005961)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Carbamoyl-phosphate synthetase 1 deficiency; CPS1D; Carbamoyl-phosphate synthetase I deficiency; Carbamoyl-phosphate synthetase deficiency; CPS1 deficiency (ORPHA:147)
Gene: CPS1
Phenotype: Protein avoidance (HP:0002038)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Cerebral edema (HP:0002181)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Low plasma citrulline (HP:0003572)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Episodic ammonia intoxication (HP:0001951)
Associated disease: Carbamoyl-phosphate synthetase 1 deficiency; CPS1D; Carbamoyl-phosphate synthetase I deficiency; Carbamoyl-phosphate synthetase deficiency; CPS1 deficiency (ORPHA:147)
Gene: CPS1
Phenotype: Episodic ammonia intoxication (HP:0001951)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Respiratory alkalosis (HP:0001950)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Carbamoyl-phosphate synthetase 1 deficiency; CPS1D; Carbamoyl-phosphate synthetase I deficiency; Carbamoyl-phosphate synthetase deficiency; CPS1 deficiency (ORPHA:147)
Gene: CPS1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Irritability (HP:0000737)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:237300)
Gene: CPT1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Motor delay (HP:0001270)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Lethargy (HP:0001254)
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: Lethargy (HP:0001254)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Seizure (HP:0001250)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Hypotonia (HP:0001252)
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: Hyporeflexia (HP:0001265)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Coma (HP:0001259)
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: Coma (HP:0001259)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Recurrent encephalopathy (HP:0007335)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Hepatic failure (HP:0001399)
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: Pregnancy history (HP:0002686)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Reduced tendon reflexes (HP:0001315)
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: Diarrhea (HP:0002014)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Abnormal speech pattern (HP:0002167)
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: Transient hyperlipidemia (HP:0008279)
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: Transient hyperlipidemia (HP:0008279)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Hepatomegaly (HP:0002240)
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: Hepatomegaly (HP:0002240)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Loss of consciousness (HP:0007185)
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: Renal tubular acidosis (HP:0001947)
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: Renal tubular acidosis (HP:0001947)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Hypoglycemia (HP:0001943)
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: Abnormality of metabolism/homeostasis (HP:0001939)
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: Hyperammonemia (HP:0001987)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY (OMIM:255120)
Gene: CPT1A
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
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: Atypical behavior (HP:0000708)
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)