TaoMedAI/RareMedData huggingface dataset:
Gene: CFH
Phenotype: Visual loss (HP:0000572)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HFE
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Lethargy (HP:0001254)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Cirrhosis (HP:0001394)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Arthritis (HP:0001369)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Joint swelling (HP:0001386)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Testicular atrophy (HP:0000029)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Azoospermia (HP:0000027)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Amenorrhea (HP:0000141)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Generalized bronze hyperpigmentation (HP:0007574)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Increased circulating iron concentration (HP:0003452)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Abnormal metacarpophalangeal joint morphology (HP:0011911)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Decreased libido (HP:0046504)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Pleural effusion (HP:0002202)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Telangiectasia (HP:0001009)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Impotence (HP:0000802)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Arthropathy (HP:0003040)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Arthropathy (HP:0003040)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Apathy (HP:0000741)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Infertility (HP:0000789)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Absent vas deferens (HP:0012873)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Decreased body mass index (HP:0045082)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Male infertility (HP:0003251)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Elevated jugular venous pressure (HP:0030848)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Osteoporosis (HP:0000939)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Arrhythmia (HP:0011675)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Alopecia (HP:0001596)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Elevated sweat chloride (HP:0012236)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Arthralgia (HP:0002829)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Sinusitis (HP:0000246)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Ascites (HP:0001541)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Recurrent Burkholderia cepacia infections (HP:0002842)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Fatigue (HP:0012378)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Abnormality of iron homeostasis (HP:0011031)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Airway obstruction (HP:0006536)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Stiff interphalangeal joints (HP:0005198)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Cholangiocarcinoma (HP:0030153)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: HFE
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: HFE
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Gene: HFE
Phenotype: Weight loss (HP:0001824)
Associated disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of hemochromatosis type 1; Symptomatic form of classic hemochromatosis (ORPHA:465508)
Gene: CFHR1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Seizure (HP:0001250)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Coma (HP:0001259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR1
Phenotype: Diarrhea (HP:0002014)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Anuria (HP:0100519)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Late onset (HP:0003584)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR1
Phenotype: Aphasia (HP:0002381)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Schistocytosis (HP:0001981)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Fever (HP:0001945)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR1
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Macular drusen (HP:0030499)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR1
Phenotype: Foveal hypopigmentation (HP:0012643)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR1
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR1
Phenotype: Hypertension (HP:0000822)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Purpura (HP:0000979)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Macular hemorrhage (HP:0025574)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR1
Phenotype: Geographic atrophy (HP:0031609)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR1
Phenotype: Decreased circulating complement factor I concentration (HP:0005356)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Decreased circulating complement factor H concentration (HP:0005369)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Decreased circulating complement factor B concentration (HP:0005416)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFHR1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 1 (OMIM:603075)
Gene: CFHR1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: HGD
Phenotype: Prostatic calculus (HP:0034882)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Elevated urinary homogentisic acid (HP:0033704)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Elevated urinary homogentisic acid (HP:0033704)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Diminished physical functioning (HP:0033666)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Limited hip movement (HP:0008800)
Associated disease: ALKAPTONURIA (OMIM:203500)
Gene: HGD
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Hereditary ochronosis; Homogentisic acid oxidase deficiency; Alkaptonuria (ORPHA:56)
Gene: HGD
Phenotype: Arthritis (HP:0001369)
Associated disease: ALKAPTONURIA (OMIM:203500)