TaoMedAI/RareMedData huggingface dataset:
Gene: ABCB11
Phenotype: Malabsorption (HP:0002024)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Diarrhea (HP:0002014)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Diarrhea (HP:0002014)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Pruritus on foot (HP:0030900)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Portal inflammation (HP:0033196)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 (OMIM:605479)
Gene: ABCB11
Phenotype: Insomnia (HP:0100785)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Intermittent jaundice (HP:0001046)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Abnormality of the digestive system (HP:0025031)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 (OMIM:605479)
Gene: ABCB11
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Abnormal pineal melatonin secretion (HP:0012689)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Short stature (HP:0004322)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Depression (HP:0000716)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 (OMIM:605479)
Gene: ABCB11
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 (OMIM:605479)
Gene: ABCB11
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Pruritus (HP:0000989)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Skin rash (HP:0000988)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Jaundice (HP:0000952)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 (OMIM:605479)
Gene: ABCB11
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Ascites (HP:0001541)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Ascites (HP:0001541)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 (OMIM:605479)
Gene: ABCB11
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Premature birth (HP:0001622)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Meconium stained amniotic fluid (HP:0012420)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: SOCS1
Phenotype: Spondylitis (HP:0033631)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Celiac disease (HP:0002608)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Middle age onset (HP:0003596)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Thyroiditis (HP:0100646)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Decreased proportion of marginal zone B cells (HP:0030384)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: SOCS1
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:619375)
Gene: DDX3Y
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DDX3Y
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DDX3Y
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DDX3Y
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DDX3Y
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DDX3Y
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DDX3Y
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: DDX3Y
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DDX3Y
Phenotype: Male infertility (HP:0003251)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: DDX3Y
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: ALDH4A1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Confusion (HP:0001289)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Elevated urinary pyrroline hydroxycarboxylic acid level (HP:6000620)
Associated disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Gene: ALDH4A1
Phenotype: Areflexia (HP:0001284)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Gene: ALDH4A1
Phenotype: Seizure (HP:0001250)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Gene: ALDH4A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Elevated circulating 1-pyrroline-5-carboxylic acid concentration (HP:6000694)
Associated disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Gene: ALDH4A1
Phenotype: Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity (HP:6000695)
Associated disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Gene: ALDH4A1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Gene: ALDH4A1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Myalgia (HP:0003326)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Gene: ALDH4A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Reduced circulating vitamin B6 circulating (HP:0008326)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Hydroxyprolinuria (HP:0003080)
Associated disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Gene: ALDH4A1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Anxiety (HP:0000739)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Short attention span (HP:0000736)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Depression (HP:0000716)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Hyperglycinuria (HP:0003108)
Associated disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Gene: ALDH4A1
Phenotype: Prolinuria (HP:0003137)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Prolinuria (HP:0003137)
Associated disease: HYPERPROLINEMIA, TYPE II (OMIM:239510)
Gene: ALDH4A1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: EEG with generalized sharp slow waves (HP:0011199)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)
Gene: ALDH4A1
Phenotype: Early onset absence seizures (HP:0011152)
Associated disease: Hyperprolinemia type 2; Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency (ORPHA:79101)