TaoMedAI/RareMedData huggingface dataset:
Gene: PGM3
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Vasculitis in the skin (HP:0200029)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Vasculitis in the skin (HP:0200029)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Skin ulcer (HP:0200042)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Esophagitis (HP:0100633)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Erythema (HP:0010783)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Molluscum contagiosum (HP:0032163)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Short stature (HP:0004322)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Membranoproliferative glomerulonephritis (HP:0000793)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Membranoproliferative glomerulonephritis (HP:0000793)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Decreased CD3+ T cell proportion (HP:0045080)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Cortical myoclonus (HP:0040148)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Cortical myoclonus (HP:0040148)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Reduced antigen-specific T cell proliferation (HP:0031402)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Abnormal CD8+ T cell proportion (HP:0031393)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Abnormal CD4:CD8 ratio (HP:0031394)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: High palate (HP:0000218)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: High palate (HP:0000218)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Abscess (HP:0025615)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Autoimmunity (HP:0002960)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGM3
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: PGM3-related congenital disorder of glycosylation; CID due to PGM3 deficiency; PGM3-CDG; Combined immunodeficiency due to PGM3 deficiency (ORPHA:443811)
Gene: PGM3
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Gene: PGR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROGESTERONE RESISTANCE (OMIM:264080)
Gene: PGR
Phenotype: Female infertility (HP:0008222)
Associated disease: PROGESTERONE RESISTANCE (OMIM:264080)
Gene: PGR
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: PROGESTERONE RESISTANCE (OMIM:264080)
Gene: ABCB1
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: INFLAMMATORY BOWEL DISEASE 13 (OMIM:612244)
Gene: ABCB4
Phenotype: Fetal distress (HP:0025116)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
Gene: ABCB4
Phenotype: Cholestasis (HP:0001396)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
Gene: ABCB4
Phenotype: Tremor (HP:0001337)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
Gene: ABCB4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Asterixis (HP:0012164)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
Gene: ABCB4
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Palmar pruritus (HP:0031248)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Malabsorption (HP:0002024)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
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: ABCB4
Phenotype: Sclerosing cholangitis (HP:0030991)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Diarrhea (HP:0002014)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Liver abscess (HP:0100523)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
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: ABCB4
Phenotype: Portal inflammation (HP:0033196)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Portal inflammation (HP:0033196)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Abdominal colic (HP:0011848)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Adult onset (HP:0003581)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Abnormal liver function tests during pregnancy (HP:0200148)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
Gene: ABCB4
Phenotype: Increased serum bile acid concentration during pregnancy (HP:0200150)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
Gene: ABCB4
Phenotype: Insomnia (HP:0100785)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Cholesterol gallstones (HP:0011980)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
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: ABCB4
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Cholecystitis (HP:0001082)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Cholecystitis (HP:0001082)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
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: ABCB4
Phenotype: Depression (HP:0000716)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
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: ABCB4
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Hypertension (HP:0000822)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
Gene: ABCB4
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Pruritus (HP:0000989)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
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: ABCB4
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 (OMIM:614972)
Gene: ABCB4
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Jaundice (HP:0000952)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB4
Phenotype: Jaundice (HP:0000952)
Associated disease: GALLBLADDER DISEASE 1 (OMIM:600803)
Gene: ABCB4
Phenotype: Neoplasm of the liver (HP:0002896)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
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: ABCB4
Phenotype: Overweight (HP:0025502)
Associated disease: Low phospholipid-associated cholelithiasis; ABCB4-related cholelithiasis; LPAC (ORPHA:69663)
Gene: ABCB4
Phenotype: Ascites (HP:0001541)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB4
Phenotype: Ascites (HP:0001541)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)