TaoMedAI/RareMedData huggingface dataset:
Gene: NPHP3
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Abnormal pancreatic duct morphology (HP:0030992)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Potter facies (HP:0002009)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Ureteral atresia (HP:0005999)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: NPHP3-related Meckel-like syndrome; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Goldston syndrome; Meckel-like syndrome type 1; Meckel syndrome type 7 (ORPHA:3032)
Gene: NPHP3
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Choroid plexus cyst (HP:0002190)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Infantile onset (HP:0003593)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Congenital onset (HP:0003577)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Multiple glomerular cysts (HP:0100611)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Increased circulating lipoprotein lipase concentration (HP:0033478)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Polydipsia (HP:0001959)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Short stature (HP:0004322)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Enuresis (HP:0000805)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Hematuria (HP:0000790)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Preauricular pit (HP:0004467)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Jaundice (HP:0000952)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Large fontanelles (HP:0000239)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: NPHP3-related Meckel-like syndrome; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Goldston syndrome; Meckel-like syndrome type 1; Meckel syndrome type 7 (ORPHA:3032)
Gene: NPHP3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NPHP3-related Meckel-like syndrome; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Goldston syndrome; Meckel-like syndrome type 1; Meckel syndrome type 7 (ORPHA:3032)
Gene: NPHP3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEPHRONOPHTHISIS 3 (OMIM:604387)
Gene: NPHP3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Pancreatic dysplasia (HP:0005232)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Malformation of the hepatic ductal plate (HP:0006563)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Neonatal cholestatic liver disease (HP:0006566)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: High forehead (HP:0000348)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Abnormal liver parenchyma morphology (HP:0030146)
Associated disease: NPHP3-related Meckel-like syndrome; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Goldston syndrome; Meckel-like syndrome type 1; Meckel syndrome type 7 (ORPHA:3032)
Gene: NPHP3
Phenotype: Abnormal liver parenchyma morphology (HP:0030146)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: NPHP3-related Meckel-like syndrome; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Goldston syndrome; Meckel-like syndrome type 1; Meckel syndrome type 7 (ORPHA:3032)
Gene: NPHP3
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Abnormal biliary tract morphology (HP:0012440)
Associated disease: NPHP3-related Meckel-like syndrome; Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome; Goldston syndrome; Meckel-like syndrome type 1; Meckel syndrome type 7 (ORPHA:3032)
Gene: NPHP3
Phenotype: Asplenia (HP:0001746)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Asplenia (HP:0001746)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Polysplenia (HP:0001748)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Ivemark II syndrome; Renal-hepatic-pancreatic dysplasia; Renohepaticopancreatic dysplasia (ORPHA:294415)
Gene: NPHP3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Gene: NPHP3
Phenotype: Cataract (HP:0000518)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: MECKEL SYNDROME, TYPE 7 (OMIM:267010)
Gene: NPHP3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ATP2C1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BENIGN CHRONIC PEMPHIGUS (OMIM:169600)
Gene: ATP2C1
Phenotype: Acantholysis (HP:0100792)
Associated disease: Benign chronic familial pemphigus; Hailey-Hailey disease (ORPHA:2841)
Gene: ATP2C1
Phenotype: Skin vesicle (HP:0200037)
Associated disease: Benign chronic familial pemphigus; Hailey-Hailey disease (ORPHA:2841)
Gene: ATP2C1
Phenotype: Skin erosion (HP:0200041)
Associated disease: Benign chronic familial pemphigus; Hailey-Hailey disease (ORPHA:2841)
Gene: ATP2C1
Phenotype: Erythema (HP:0010783)
Associated disease: Benign chronic familial pemphigus; Hailey-Hailey disease (ORPHA:2841)
Gene: ATP2C1
Phenotype: Erythema (HP:0010783)
Associated disease: BENIGN CHRONIC PEMPHIGUS (OMIM:169600)
Gene: ATP2C1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Benign chronic familial pemphigus; Hailey-Hailey disease (ORPHA:2841)
Gene: ACAD8
Phenotype: Hypotonia (HP:0001252)
Associated disease: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:611283)
Gene: ACAD8
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: ACAD8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:611283)
Gene: ACAD8
Phenotype: Vomiting (HP:0002013)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: ACAD8
Phenotype: Dehydration (HP:0001944)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: ACAD8
Phenotype: Anemia (HP:0001903)
Associated disease: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:611283)
Gene: ACAD8
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: ACAD8
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: ACAD8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: ACAD8
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:611283)
Gene: ACAD8
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: ACAD8
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: ACAD8
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: ACAD8
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: ACAD8
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:611283)
Gene: ACAD8
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Isobutyryl-CoA dehydrogenase deficiency; Isobutyric aciduria (ORPHA:79159)
Gene: LAT
Phenotype: Persistent CMV viremia (HP:0032247)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Increased gamma-delta T cell proportion (HP:0500270)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Death in childhood (HP:0003819)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Coombs-positive hemolytic anemia (HP:0004844)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Neonatal onset (HP:0003623)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Abnormal total natural killer cell count (HP:0040089)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Death in infancy (HP:0001522)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Abnormal T cell proliferation (HP:0031379)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Immune dysregulation (HP:0002958)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: LAT
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 52 (OMIM:617514)
Gene: ANKRD1
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD1
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD1
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD1
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ANKRD1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PPA2
Phenotype: Seizure (HP:0001250)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED (OMIM:617223)
Gene: PPA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: PPA2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SUDDEN CARDIAC FAILURE, INFANTILE (OMIM:617222)
Gene: PPA2
Phenotype: Chest pain (HP:0100749)
Associated disease: SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED (OMIM:617223)