TaoMedAI/RareMedData huggingface dataset:
Gene: ATP6AP2
Phenotype: Astereognosis (HP:0010527)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Astereognosis (HP:0010527)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Middle age onset (HP:0003596)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Extrapyramidal muscular rigidity (HP:0007076)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Frequent falls (HP:0002359)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Action tremor (HP:0002345)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Action tremor (HP:0002345)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Resting tremor (HP:0002322)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Drooling (HP:0002307)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Jaundice (HP:0000952)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Ascites (HP:0001541)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Obesity (HP:0001513)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Hyporeflexia of upper limbs (HP:0012391)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Weak voice (HP:0001621)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Pes planus (HP:0001763)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Scissor gait (HP:0012407)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: LPAR6
Phenotype: Comedo (HP:0025249)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Woolly hair (HP:0002224)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Woolly hair (HP:0002224)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LPAR6
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Fine hair (HP:0002213)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LPAR6
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Coarse hair (HP:0002208)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Fair hair (HP:0002286)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Brittle hair (HP:0002299)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Dry hair (HP:0011359)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LPAR6
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LPAR6
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Sparse hair (HP:0008070)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LPAR6
Phenotype: Alopecia (HP:0001596)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LPAR6
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Strabismus (HP:0000486)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Cataract (HP:0000518)
Associated disease: Woolly hair; Hereditary wooly hair syndrome; Hereditary woolly hair syndrome; Familial wooly hair syndrome; Wooly hair; Familial woolly hair syndrome (ORPHA:170)
Gene: LPAR6
Phenotype: Ridged nail (HP:0001807)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: LPAR6
Phenotype: Nail pits (HP:0001803)
Associated disease: HYPOTRICHOSIS 8 (OMIM:278150)
Gene: SLC25A13
Phenotype: Hepatic encephalopathy (HP:0002480)
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 alanine concentration (HP:0010916)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Abnormal circulating glutamine concentration (HP:0010903)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Abnormal circulating arginine concentration (HP:0010909)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hyperargininemia (HP:0500153)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hyperargininemia (HP:0500153)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Confusion (HP:0001289)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Confusion (HP:0001289)
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: Lethargy (HP:0001254)
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: Seizure (HP:0001250)
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: Global developmental delay (HP:0001263)
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: Coma (HP:0001259)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Coma (HP:0001259)
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: Hepatic steatosis (HP:0001397)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hepatic steatosis (HP:0001397)
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: Cholestasis (HP:0001396)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Hepatic fibrosis (HP:0001395)
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: Cirrhosis (HP:0001394)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hypergalactosemia (HP:0012024)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Protein craving (HP:6000785)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Tremor (HP:0001337)
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: Asterixis (HP:0012164)
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: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Macrovesicular hepatic steatosis (HP:0001403)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Hepatocellular carcinoma (HP:0001402)
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: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Delirium (HP:0031258)
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: Hyperthreoninemia (HP:0003354)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hyperthreoninemia (HP:0003354)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Increased urinary glycerol (HP:0040301)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Diarrhea (HP:0002014)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Diarrhea (HP:0002014)
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: Vomiting (HP:0002013)
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: Ballooning hepatocyte degeneration (HP:0033193)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Portal inflammation (HP:0033196)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hypertriglyceridemia (HP:0002155)
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: Cerebral edema (HP:0002181)
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: Cerebral edema (HP:0002181)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Hyperlysinemia (HP:0002161)
Associated disease: CITRULLINEMIA, TYPE II, NEONATAL-ONSET (OMIM:605814)
Gene: SLC25A13
Phenotype: Hyperlysinemia (HP:0002161)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Echolalia (HP:0010529)
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: Acute hyperammonemia (HP:0008281)
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: Hepatomegaly (HP:0002240)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Hepatomegaly (HP:0002240)
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: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: Neonatal intrahepatic cholestasis due to citrin deficiency; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD (ORPHA:247598)
Gene: SLC25A13
Phenotype: Adult onset (HP:0003581)
Associated disease: CITRULLINEMIA, TYPE II, ADULT-ONSET (OMIM:603471)
Gene: SLC25A13
Phenotype: Insomnia (HP:0100785)
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)