TaoMedAI/RareMedData huggingface dataset:
Gene: SLC25A13
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Mania (HP:0100754)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Elevated plasma citrulline (HP:0011966)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Elevated plasma citrulline (HP:0011966)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Elevated plasma citrulline (HP:0011966)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Elevated plasma citrulline (HP:0011966)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Memory impairment (HP:0002354)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Drowsiness (HP:0002329)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Fluctuations in consciousness (HP:0007159)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Anemia (HP:0001903)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Enuresis (HP:0000805)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Poor appetite (HP:0004396)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Hallucinations (HP:0000738)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Irritability (HP:0000737)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Delusion (HP:0000746)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Restlessness (HP:0000711)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Psychosis (HP:0000709)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Sleep terror (HP:0030765)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hypermethioninemia (HP:0003235)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hypermethioninemia (HP:0003235)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hypertyrosinemia (HP:0003231)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hypertyrosinemia (HP:0003231)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Jaundice (HP:0000952)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Abnormal circulating serine concentration (HP:0012278)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Growth delay (HP:0001510)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Ketonuria (HP:0002919)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Argininosuccinic aciduria (HP:0025630)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Night sweats (HP:0030166)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Pancreatitis (HP:0001733)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Cataract (HP:0000518)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Adult-onset citrullinemia type II; Citrullinemia type II; Adult-onset citrullinemia type 2; Adult-onset citrin deficiency; CTLN2; Citrullinemia type 2 (ORPHA:247585)
Gene: SLC25A13
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A15
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Confusion (HP:0001289)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Confusion (HP:0001289)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Lethargy (HP:0001254)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Lethargy (HP:0001254)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Seizure (HP:0001250)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Spasticity (HP:0001257)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Coma (HP:0001259)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Coma (HP:0001259)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Hepatic failure (HP:0001399)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Hyperornithinemia (HP:0012026)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Hyperornithinemia (HP:0012026)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Specific learning disability (HP:0001328)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Dysmetria (HP:0001310)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Hepatitis (HP:0012115)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Tachypnea (HP:0002789)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Decreased liver function (HP:0001410)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Decreased liver function (HP:0001410)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Spastic gait (HP:0002064)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Spastic gait (HP:0002064)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Protein avoidance (HP:0002038)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Protein avoidance (HP:0002038)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Homocitrullinuria (HP:0034464)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)
Gene: SLC25A15
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Gene: SLC25A15
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: ORNT1 deficiency; Ornithine carrier deficiency; HHH syndrome; Ornithine translocase deficiency; Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; Triple H syndrome (ORPHA:415)