TaoMedAI/RareMedData huggingface dataset:
Gene: HEXB
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Progressive macrocephaly (HP:0004481)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Reduced beta-hexosaminidase B activity (HP:0033978)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Reduced beta-hexosaminidase B activity (HP:0033978)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Reduced beta-hexosaminidase B activity (HP:0033978)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Reduced beta-hexosaminidase B activity (HP:0033978)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Pes cavus (HP:0001761)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: CFH
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Hemiparesis (HP:0001269)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Seizure (HP:0001250)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Coma (HP:0001259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Generalized edema (HP:0007430)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Macular atrophy (HP:0007401)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 4 (OMIM:610698)
Gene: CFH
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Gene: CFH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Gene: CFH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAL LAMINAR DRUSEN (OMIM:126700)
Gene: CFH
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 4 (OMIM:610698)
Gene: CFH
Phenotype: Hypotension (HP:0002615)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Epigastric pain (HP:0410019)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Gene: CFH
Phenotype: Nausea (HP:0002018)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Diarrhea (HP:0002014)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Vomiting (HP:0002013)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Anuria (HP:0100519)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Back pain (HP:0003418)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Glomerular subendothelial electron-dense deposits (HP:0004746)
Associated disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Gene: CFH
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Gene: CFH
Phenotype: Middle age onset (HP:0003596)
Associated disease: BASAL LAMINAR DRUSEN (OMIM:126700)
Gene: CFH
Phenotype: Late onset (HP:0003584)
Associated disease: BASAL LAMINAR DRUSEN (OMIM:126700)
Gene: CFH
Phenotype: Adult onset (HP:0003581)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 4 (OMIM:610698)
Gene: CFH
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Poor wound healing (HP:0001058)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Aphasia (HP:0002381)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Headache (HP:0002315)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Eclampsia (HP:0100601)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Hemoglobinuria (HP:0003641)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Gene: CFH
Phenotype: Yellow/white lesions of the macula (HP:0030500)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Paracentral scotoma (HP:0030528)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Gene: CFH
Phenotype: Schistocytosis (HP:0001981)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Photophobia (HP:0000613)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Fever (HP:0001945)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 4 (OMIM:610698)
Gene: CFH
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Macular drusen (HP:0030499)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Increased body weight (HP:0004324)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Hypoautofluorescent macular lesion (HP:0030632)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Hyperautofluorescent macular lesion (HP:0030631)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Placental abruption (HP:0011419)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Hematuria (HP:0000790)
Associated disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Gene: CFH
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Drusen (HP:0011510)
Associated disease: BASAL LAMINAR DRUSEN (OMIM:126700)
Gene: CFH
Phenotype: Macular hyperpigmentation (HP:0011509)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Hypertension (HP:0000822)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Shoulder pain (HP:0030834)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Purpura (HP:0000979)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Maternal hypertension (HP:0008071)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Macular hemorrhage (HP:0025574)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Decreased mean corpuscular hemoglobin concentration (HP:0025547)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Granular macular appearance (HP:0007793)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Exudative retinal detachment (HP:0012231)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Fatigue (HP:0012378)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Subretinal fluid (HP:0031526)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Internal hemorrhage (HP:0011029)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Hemolysis-elevated liver enzymes-low platelets syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; HELLP syndrome (ORPHA:244242)
Gene: CFH
Phenotype: Peripapillary chorioretinal atrophy (HP:0007950)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Reticular pigmentary degeneration (HP:0007937)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Depletion of components of the alternative complement pathway (HP:0005389)
Associated disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Gene: CFH
Phenotype: Decreased circulating complement factor I concentration (HP:0005356)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Decreased circulating complement factor H concentration (HP:0005369)
Associated disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Gene: CFH
Phenotype: Decreased circulating complement factor H concentration (HP:0005369)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Late young adult onset (HP:0025710)
Associated disease: BASAL LAMINAR DRUSEN (OMIM:126700)
Gene: CFH
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Decreased circulating complement factor B concentration (HP:0005416)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Gene: CFH
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFH
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFH
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: BASAL LAMINAR DRUSEN (OMIM:126700)
Gene: CFH
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)