TaoMedAI/RareMedData huggingface dataset:
Gene: EFEMP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: EFEMP1
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: EFEMP1
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Telecanthus (HP:0000506)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Ptosis (HP:0000508)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID (OMIM:620780)
Gene: EFEMP1
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: DOYNE HONEYCOMB RETINAL DYSTROPHY (OMIM:126600)
Gene: EFEMP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: EFEMP1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: EFEMP1
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: EFEMP1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: EFEMP1
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: EFEMP1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: DOYNE HONEYCOMB RETINAL DYSTROPHY (OMIM:126600)
Gene: EFEMP1
Phenotype: Visual loss (HP:0000572)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: EFEMP1
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Temporal optic disc pallor (HP:0012511)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: EFEMP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: EFEMP1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: EFEMP1
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: EFEMP1
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: EFEMP1
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: FBP1
Phenotype: Lethargy (HP:0001254)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Seizure (HP:0001250)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Seizure (HP:0001250)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Coma (HP:0001259)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Coma (HP:0001259)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Reduced tissue fructose-1,6-bisphosphatase activity (HP:0034995)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Increased urinary glycerol (HP:0040301)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Increased urinary glycerol (HP:0040301)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Vomiting (HP:0002013)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Apneic episodes in infancy (HP:0005949)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Dyspnea (HP:0002094)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Apnea (HP:0002104)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Intermittent hyperventilation (HP:0004879)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Drowsiness (HP:0002329)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Intermittent lactic acidemia (HP:0004913)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Ketosis (HP:0001946)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Ketosis (HP:0001946)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Fever (HP:0001945)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Irritability (HP:0000737)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Irritability (HP:0000737)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Pallor (HP:0000980)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Hyperventilation (HP:0002883)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FBP1
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Reye syndrome-like episodes (HP:0006582)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Tachycardia (HP:0001649)
Associated disease: Fructose-1,6-bisphosphatase deficiency; FBPase deficiency; Fructose-1,6-diphosphatase deficiency (ORPHA:348)
Gene: FBP1
Phenotype: Tachycardia (HP:0001649)
Associated disease: FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY (OMIM:229700)
Gene: FCGR2A
Phenotype: Seizure (HP:0001250)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Ileus (HP:0002595)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Steatorrhea (HP:0002570)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Decreased forced expiratory flow 25-75% (HP:0032359)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Salty tasting skin (HP:6000725)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Arthritis (HP:0001369)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Malar rash (HP:0025300)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Nephritis (HP:0000123)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Diarrhea (HP:0002014)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Asthma (HP:0002099)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Hyperpolarized transepithelial nasal potential difference (HP:6000100)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Pleuritis (HP:0002102)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Hemoptysis (HP:0002105)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Dehydration (HP:0001944)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Psychosis (HP:0000709)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Childhood onset (HP:0011463)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Meconium ileus (HP:0004401)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Male infertility (HP:0003251)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Pancreatitis (HP:0001733)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Pericarditis (HP:0001701)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: FCGR2A
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2A
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Seizure (HP:0001250)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Arthritis (HP:0001369)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Malar rash (HP:0025300)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Nephritis (HP:0000123)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Pleuritis (HP:0002102)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: FCGR2B
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: FCGR2B
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)