TaoMedAI/RareMedData huggingface dataset:
Gene: IDUA
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: SCHEIE SYNDROME (OMIM:607016)
Gene: CFI
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: CFI
Phenotype: Macular atrophy (HP:0007401)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Proteinuria (HP:0000093)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
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: CFI
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: CFI
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
Gene: CFI
Phenotype: Vasculitis (HP:0002633)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
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: CFI
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: CFI
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: CFI
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: CFI
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: CFI
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: CFI
Phenotype: Anuria (HP:0100519)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
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: CFI
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: CFI
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: CFI
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: CFI
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
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: CFI
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: CFI
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: CFI
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: CFI
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: CFI
Phenotype: Macular scar (HP:0200056)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
Gene: CFI
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: CFI
Phenotype: Juvenile onset (HP:0003621)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
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: CFI
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: CFI
Phenotype: Paracentral scotoma (HP:0030528)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
Phenotype: Photophobia (HP:0000613)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
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: CFI
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
Phenotype: Macular degeneration (HP:0000608)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
Gene: CFI
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
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: CFI
Phenotype: Macular drusen (HP:0030499)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
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: CFI
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: CFI
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: CFI
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: CFI
Phenotype: Recurrent meningitis (HP:0006946)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
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: CFI
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Childhood onset (HP:0011463)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
Phenotype: Young adult onset (HP:0011462)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
Phenotype: Hematuria (HP:0000790)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
Phenotype: Drusen (HP:0011510)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
Gene: CFI
Phenotype: Macular hyperpigmentation (HP:0011509)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
Gene: CFI
Phenotype: Septic arthritis (HP:0003095)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Hypertension (HP:0000822)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
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: CFI
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
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: CFI
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: CFI
Phenotype: Macular hemorrhage (HP:0025574)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
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: CFI
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: CFI
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
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: CFI
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
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: CFI
Phenotype: Subretinal fluid (HP:0031526)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
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: CFI
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: CFI
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
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: CFI
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: CFI
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Recurrent meningococcal disease (HP:0005381)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Decreased circulating complement factor I concentration (HP:0005356)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Decreased circulating complement factor H concentration (HP:0005369)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Recurrent streptococcus pneumoniae infections (HP:0005366)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
Phenotype: Decreased circulating complement factor B concentration (HP:0005416)
Associated disease: COMPLEMENT FACTOR I DEFICIENCY (OMIM:610984)
Gene: CFI
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: MACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
Gene: CFI
Phenotype: Visual loss (HP:0000572)
Associated disease: Familial drusen; Dominant radial drusen; Dominant drusen; Malattia leventinese; DHRD; Doyne honeycomb retinal dystrophy (ORPHA:75376)
Gene: CFI
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: CFI
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 (OMIM:612923)
Gene: CFI
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: SP110
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Hemiparesis (HP:0001269)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY (OMIM:235550)
Gene: SP110
Phenotype: Urinary retention (HP:0000016)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY (OMIM:235550)
Gene: SP110
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Inappropriate antidiuretic hormone secretion (HP:0031218)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Portal hypertension (HP:0001409)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Recurrent enteroviral infections (HP:0002743)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Recurrent abscess formation (HP:0002722)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY (OMIM:235550)
Gene: SP110
Phenotype: Diarrhea (HP:0002014)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Paraplegia (HP:0010550)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Paraparesis (HP:0002385)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Chronic hepatic failure (HP:0100626)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Anemia (HP:0001903)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY (OMIM:235550)
Gene: SP110
Phenotype: Cough (HP:0012735)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Abnormal lymphocyte count (HP:0040088)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Abnormal total natural killer cell count (HP:0040089)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Pulmonary hemorrhage (HP:0040223)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Jaundice (HP:0000952)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Microcephaly (HP:0000252)
Associated disease: HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY (OMIM:235550)
Gene: SP110
Phenotype: Microcephaly (HP:0000252)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Ascites (HP:0001541)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Absence of lymph node germinal center (HP:0002849)
Associated disease: HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY (OMIM:235550)
Gene: SP110
Phenotype: Absence of lymph node germinal center (HP:0002849)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Endocardial fibrosis (HP:0006685)
Associated disease: HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY (OMIM:235550)
Gene: SP110
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Abnormal circulating interferon-gamma concentration (HP:0030355)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)
Gene: SP110
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated disease: VODI syndrome; Hepatic veno-occlusive disease-immunodeficiency syndrome (ORPHA:79124)