Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Hypotension, Tubulointerstitial nephritis, Renal tubular atrophy, Hyperuricemia, Stage 5 chronic ... |
OMIM:174000 |
Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Hemoglobin D Disease |
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Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Polycystic Kidney Disease 7 |
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Renal interstitial fibrosis, Stage 5 chronic kidney disease, Hypertension, Renal atrophy, Multipl... |
OMIM:620056 |
Fetal Cytomegalovirus Syndrome |
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Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Interstitial Nephritis, Karyomegalic |
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Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Renal Failure, Progressive, With Hypertension |
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Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Nephritis, Elevated circulatin... |
OMIM:161900 |
Aapoaiv Amyloidosis |
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Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Abnormal renal... |
ORPHA:439232 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis |
OMIM:235550 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Vascular dilatation, Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine conc... |
OMIM:617056 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Reticuloendotheliosis, X-Linked |
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Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
RCAD (renal cysts and diabetes) |
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Multiple renal cysts |
DECIPHER:47 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Hemoglobin H Disease |
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Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Nephrotic syndrome, Acute kidney injury, Hypertension, Glomerulonephritis, Glomerular C3 depositi... |
ORPHA:567544 |
Nephronophthisis 16 |
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Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
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Retinal hemorrhage, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomeno... |
OMIM:611773 |
Hereditary Progressive Mucinous Histiocytosis |
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Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Pulmonary Nodular Lymphoid Hyperplasia |
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Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy |
ORPHA:60026 |
Autosomal Dominant Polycystic Kidney Disease |
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Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... |
ORPHA:730 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Mantle Cell Lymphoma |
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Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Genitopalatocardiac Syndrome |
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Double outlet right ventricle, Renal cyst, Hypospadias, Right aortic arch, Transposition of the g... |
OMIM:231060 |
Bardet-Biedl Syndrome 10 |
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Renal cyst, Renal insufficiency |
OMIM:615987 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Congenital Disorder Of Glycosylation, Type Il |
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Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia, Hepatosple... |
OMIM:608776 |
Nephronophthisis 2 |
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Pulmonary insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Hypertens... |
OMIM:602088 |
Isolated Polycystic Liver Disease |
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Increased total bilirubin, Vascular dilatation, Multiple renal cysts, Gastrointestinal hemorrhage |
ORPHA:2924 |
Hepatorenocardiac Degenerative Fibrosis |
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Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Enlarged kidney, Jaundice, Hepatocellular ... |
OMIM:619902 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
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Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Preeclampsia |
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Acute kidney injury, Abnormality of the kidney, Elevated systolic blood pressure, Hypertension, P... |
ORPHA:275555 |
C3 Glomerulopathy |
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Mesangial hypercellularity, Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute... |
ORPHA:329918 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Abnormal aortic morphology, Hyperuricemia, Hypertension, Arrhythmia, Renal insufficiency, Cardiom... |
ORPHA:3222 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
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3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Distal Trisomy 14Q |
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Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract |
ORPHA:1705 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... |
OMIM:208540 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
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Abnormal lymph node morphology |
OMIM:136580 |
Renal Dysplasia, Cystic, Susceptibility To |
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Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Renal Tubular Dysgenesis |
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Proximal tubulopathy, Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis |
ORPHA:3033 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Periportal fibrosis, En... |
OMIM:263200 |
Mu-Heavy Chain Disease |
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Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... |
ORPHA:100024 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... |
OMIM:300908 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Joubert Syndrome 35 |
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Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Hemoglobin E Disease |
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Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Squamous Cell Carcinoma Of The Esophagus |
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Lymphadenopathy |
ORPHA:99977 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, H... |
OMIM:616733 |
Nephronophthisis 20 |
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Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Thrombotic Thrombocytopenic Purpura |
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Renal insufficiency, Acute kidney injury, Hematuria, Decreased serum creatinine, Myocardial infar... |
ORPHA:54057 |
Oligomeganephronia |
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Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
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Lymphadenopathy |
ORPHA:319600 |
Igg4-Related Retroperitoneal Fibrosis |
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Hydronephrosis, Nephrotic syndrome, Large vessel vasculitis, Acute kidney injury, Dysuria, Renal ... |
ORPHA:49041 |
Infundibulopelvic Dysgenesis |
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Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Fibromuscular Dysplasia, Arterial |
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Arterial fibromuscular dysplasia, Intermittent claudication, Myocardial infarction, Renovascular ... |
OMIM:135580 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612926 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Anisocytosis, Hepatomegaly, Renal hyp... |
OMIM:604273 |
Bardet-Biedl Syndrome 16 |
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Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency |
OMIM:615993 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Hypertension, Increased blood ... |
OMIM:612924 |
Nephronophthisis 14 |
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Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis |
OMIM:614844 |
Neutrophilia, Hereditary |
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Neutrophilia, Splenomegaly |
OMIM:162830 |
Trimethylaminuria |
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Anemia, Neutropenia, Splenomegaly, Trimethylaminuria |
OMIM:602079 |
Campomelia, Cumming Type |
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Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease |
OMIM:211890 |
Alpha-Thalassemia |
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Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Alagille Syndrome 2 |
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Renal insufficiency, Renal tubular acidosis, Hematuria, Hypertension, Renal cyst, Peripheral pulm... |
OMIM:610205 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Hemolytic-uremic syndrome, Transient ischemic attack, Abnormal renal physiology, Myocardial infar... |
OMIM:274150 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Hyperparathyroidism 2 With Jaw Tumors |
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Nephroblastoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Papillary... |
OMIM:145001 |
Nephronophthisis-Like Nephropathy 2 |
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Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... |
OMIM:619468 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Immunodeficiency 38 With Basal Ganglia Calcification |
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Lymphadenopathy |
OMIM:616126 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
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Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
Hereditary Renal Hypouricemia |
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Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
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Vesicoureteral reflux, Abnormal aortic morphology, Renal hypoplasia/aplasia, Abnormality of the p... |
ORPHA:1166 |
Structural Heart Defects And Renal Anomalies Syndrome |
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Systolic heart murmur, Truncus arteriosus, Interrupted aortic arch, Renal cyst, Persistent left s... |
OMIM:617478 |
Immunodeficiency 104 |
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Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Igg4-Related Aortitis |
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Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav... |
ORPHA:449400 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hypouricemia, Renal, 1 |
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Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Dominant Beta-Thalassemia |
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Hepatic fibrosis, Cirrhosis, Hypopituitarism, Hypersplenism, Reduced hemoglobin A, Jaundice, Decr... |
ORPHA:231226 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Ventricular septal defect, Hematuria, Atrial septal d... |
OMIM:258900 |
Immunodeficiency 75 With Lymphoproliferation |
|
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hypertension, Increased blood urea nitrog... |
OMIM:235400 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Adenine Phosphoribosyltransferase Deficiency |
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Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... |
OMIM:614723 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Arterial calcification, Arterial occlusion, Decreased serum creatinine, Arterial tortuosity, Coro... |
ORPHA:289601 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Jaundice, Intrahepatic bili... |
OMIM:214110 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... |
OMIM:616689 |
Focal Segmental Glomerulosclerosis 1 |
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Stage 5 chronic kidney disease, Hypertension, Hyperlipidemia, Proteinuria, Focal segmental glomer... |
OMIM:603278 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Recurrent urinary tra... |
OMIM:615559 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts, Hypertension |
OMIM:600666 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Renal cyst, Increased total bilirubin |
OMIM:174050 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Distal renal tubular acidosis, Impaired urinary acidification, Nephrocalcinosis, Hyp... |
OMIM:179800 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
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Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Hypertension, Mitral regurgitation, Cerebral berry an... |
OMIM:173900 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen... |
OMIM:613845 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Syndromic Diarrhea |
|
Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymus, Ventricular septal defect, Abnormality ... |
ORPHA:84064 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Renal insufficiency,... |
ORPHA:1909 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Hypertension |
ORPHA:2111 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Hypertension, Increased blood urea nit... |
ORPHA:251004 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... |
ORPHA:232 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Thickening of glomerular capillary wall,... |
ORPHA:63 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Tubulointerstitial Nephritis With Uveitis |
|
Glomerulonephritis, Elevated circulating creatinine concentration, Reversible renal failure, Acut... |
OMIM:607665 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Caroli Disease |
|
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver absces... |
ORPHA:53035 |
Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Eosinophilia, Myeloproliferative disorder, Hepa... |
OMIM:607685 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Pericarditis, Increased blood urea... |
ORPHA:231111 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly |
OMIM:269920 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Cerebral hemorrhage, Nephrotic syndrome, Hypertension, Abnor... |
ORPHA:84090 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Hypertension, Elevated circulating creatinine concentration... |
OMIM:123550 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma... |
ORPHA:71275 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Renal hypoplasia/aplasia, Hypoplasia of penis, Abnormality of the ureter, Hypospadias, As... |
ORPHA:1046 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Ort... |
OMIM:223900 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Thrombocytopenia, A... |
ORPHA:848 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... |
OMIM:610199 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necro... |
OMIM:618278 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... |
OMIM:300835 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Acute kidney injury, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... |
OMIM:618886 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia, Argininuria, Renal fibros... |
ORPHA:470 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hemat... |
OMIM:603903 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Caroli Syndrome |
|
Leukopenia, Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Polycystic kidney dyspl... |
ORPHA:480520 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Abnormal heart morphology, Periportal fibrosis |
OMIM:263210 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
Galactosemia Iii |
|
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Proximal tubulopathy, Steatorrhea, Renal cyst, Hypoalbuminemia |
OMIM:602579 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
Neuraminidase Deficiency |
|
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... |
OMIM:256550 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Renal h... |
OMIM:614376 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... |
ORPHA:79233 |
Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, Lymphadenopat... |
OMIM:614034 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... |
OMIM:608836 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corticomedullary differenti... |
ORPHA:731 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In... |
OMIM:618534 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Nephrotic syndrome, Renal interstitial amylo... |
ORPHA:85450 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... |
OMIM:616217 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Left ventricular outflow tract obstruction, Levotransposition of the gr... |
ORPHA:860 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Small vessel vas... |
ORPHA:93126 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Long penis, Abnormal localization of kidne... |
ORPHA:1988 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Renal oncocytoma, Papillary renal cell carcinoma, Nodular goiter,... |
ORPHA:97290 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Cyanosis, Transient Neonatal |
|
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogeni... |
OMIM:614473 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:105200 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... |
OMIM:612561 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemochromatosis, Type 2B |
|
Cirrhosis, Anemia, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:613313 |
Follicular Lymphoma |
|
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum |
ORPHA:545 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... |
ORPHA:98870 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... |
OMIM:603909 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Jaundice, Ge... |
OMIM:231680 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Hypoph... |
OMIM:618913 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphad... |
OMIM:618495 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Telangiectasia, Punctate vasculitis skin lesions, Raynaud phenomenon, Hypertension, Glomerular sc... |
ORPHA:247691 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Polycystic kidney dysplasia, Lacticaciduria, Acute pancreatitis, Abnormal heart morphology, Hepat... |
ORPHA:26791 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:620010 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Syncope, Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Orthos... |
ORPHA:230 |
Distal Tetrasomy 15Q |
|
Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia, Hydrocele testis, Atrial ... |
ORPHA:314588 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
Orthostatic Hypotension 1 |
|
Nocturia, Increased blood urea nitrogen, Orthostatic hypotension, Hypomagnesemia, Atrial fibrilla... |
OMIM:223360 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Polycystic kidney dysplasia, Jaundice, Atrial septal defect, Hepatospl... |
OMIM:614866 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys, Hypertension |
OMIM:619111 |
Arima Syndrome |
|
Renal tubular atrophy, Anemia, Hepatic fibrosis, Cirrhosis, Stage 5 chronic kidney disease, Renal... |
OMIM:243910 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:157 |
Relapsing Fever |
|
Hypotension, Increased total bilirubin, Acute kidney injury, Hematuria, Epistaxis, Elevated circu... |
ORPHA:91547 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Elevated systolic ... |
OMIM:300539 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Harderoporphyria |
|
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... |
OMIM:618892 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly |
OMIM:618982 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Glycosuria, Hyperkalemia, Hypertension, Chronic ... |
ORPHA:97362 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Acute kidney injury, Decreased urine out... |
ORPHA:542323 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Renal insufficiency, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomeg... |
ORPHA:79312 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Increased urinary porphobilinogen, Splenomegaly, Elevated urinary delta-a... |
OMIM:121300 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
OMIM:613011 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Malforma... |
OMIM:615415 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... |
ORPHA:54251 |
Rhabdoid Tumor |
|
Anemia, Neoplasm of the liver, Hematuria, Renal neoplasm, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... |
ORPHA:2970 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Vascular dilatation, Stage 5 chronic kidney disease, Hypert... |
OMIM:216360 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:507 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Proximal tubulopathy, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglo... |
ORPHA:231222 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Papillary renal cell carcinoma, Nodular goiter, Chronic noninfect... |
ORPHA:319487 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... |
ORPHA:543 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia |
ORPHA:157991 |
Trisomy 17P |
|
Polycystic kidney dysplasia, Hypoplasia of penis, Hypoplastic left heart, Urethral stenosis, Aort... |
ORPHA:261290 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Uremic Pruritus |
|
Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re... |
ORPHA:94059 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Abnormal aortic morphology, Heart murmur, Congestive heart failure, Aorto-v... |
ORPHA:3400 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretio... |
OMIM:252920 |
Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Stage 5 chronic kidney disease, Glycosuria, Abnormality of the kidney, Decreased n... |
OMIM:137920 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... |
ORPHA:228302 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly |
ORPHA:2584 |
Babesiosis |
|
Leukopenia, Renal insufficiency, Hemolytic anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Sple... |
ORPHA:108 |
Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Renal insufficiency, Jaundice, Ureteral obstruction, Generali... |
ORPHA:160 |
Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... |
ORPHA:824 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... |
OMIM:615605 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Polycystic kidney dysplasia, Renal cyst, Hypospadias, Renal hypoplasia, Ascites |
OMIM:614091 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Verheij Syndrome |
|
Renal cyst, Renal hypoplasia, Renal agenesis |
OMIM:615583 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Nephrotic syndrome, Lymphopenia, Hepatosplenomegaly, Lymphadenop... |
OMIM:618935 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... |
ORPHA:400 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocytic anemia, Increased mean corpusc... |
OMIM:300946 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... |
ORPHA:911 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly |
OMIM:614480 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Axial Osteomalacia |
|
Renal cyst, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... |
OMIM:615122 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys... |
OMIM:113650 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Pulmonary embolism, Renal insufficiency, Acute kidney injury, Hemoglob... |
ORPHA:447 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Angina pectoris, Supravalvular aortic stenosis, Abnormal left ventricular f... |
ORPHA:391665 |
Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Palpitations, Oliguri... |
ORPHA:340 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Renal hypoplasia/aplasia, Abnormality of the pulmonary artery, Microp... |
ORPHA:1926 |
Omenn Syndrome |
|
Anemia, Nephrotic syndrome, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomega... |
ORPHA:39041 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Portal hyperte... |
OMIM:616589 |
Kallmann Syndrome-Heart Disease Syndrome |
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Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Renal agenesis, Congestive ... |
ORPHA:2326 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormality of circulating cortisol level, Decreased circulating renin level... |
ORPHA:320 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia |
OMIM:608184 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Left ve... |
ORPHA:99050 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... |
ORPHA:464329 |
Cinca Syndrome |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia |
OMIM:607115 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal cyst, Renal hypoplasia, Renal dysplasia |
OMIM:236500 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia |
ORPHA:482 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Abnormal... |
ORPHA:84081 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... |
OMIM:619846 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Cardi... |
OMIM:614922 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antibodies, Pure re... |
OMIM:613179 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Nephroblastoma, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphobl... |
ORPHA:158057 |
Diamond-Blackfan Anemia 7 |
|
Vesicoureteral reflux, Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fal... |
OMIM:612562 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... |
OMIM:609981 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... |
OMIM:615234 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Aorta Coarctation |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Interrupted aortic arch, Congestive he... |
ORPHA:1457 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Biliary cirrhosis, Multicystic kidney dysplasia, Stage 5 chronic kidney disease... |
OMIM:267010 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Short Rib-Polydactyly Syndrome |
|
Urogenital sinus anomaly, Hepatic fibrosis, Hepatic cysts, Abnormality of the liver, Abnormality ... |
ORPHA:1505 |
Transketolase Deficiency |
|
Patent ductus arteriosus, Increased level of ribose in urine, Abnormal coronary artery course, Re... |
ORPHA:488618 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... |
OMIM:308240 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Carotid artery calcification, Abdominal aortic calcification, Congestive heart failure, Hypertens... |
OMIM:208000 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
22Q11.2 Deletion Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the thymus, Ventricular septal defect, Truncus arteriosus, P... |
ORPHA:567 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, P... |
ORPHA:2237 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Tuberous Sclerosis Complex |
|
Parathyroid adenoma, Renal angiomyolipoma, Cardiac rhabdomyoma, Stage 5 chronic kidney disease, A... |
ORPHA:805 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney, Hepatomegaly, Cryptorchidism |
OMIM:613730 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Hepatomegaly, M... |
ORPHA:83469 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... |
ORPHA:3226 |
Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Renal Coloboma Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... |
ORPHA:1475 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Ascites, Prolonged... |
OMIM:257200 |
Hemochromatosis, Type 1 |
|
Cirrhosis, Hepatocellular carcinoma, Testicular atrophy, Hepatomegaly, Cardiomegaly, Ascites, Spl... |
OMIM:235200 |
Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis |
OMIM:613390 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:613780 |
Felty Syndrome |
|
Anemia, Recurrent urinary tract infections, Pericarditis, Lymphadenopathy, Bone marrow hypocellul... |
ORPHA:47612 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Nephropathy, Abnormal renal physiology, Cardiomyopathy |
ORPHA:85447 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of... |
ORPHA:98850 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:611560 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... |
ORPHA:79301 |
Transaldolase Deficiency |
|
Telangiectasia, Abnormality of the kidney, Coarctation of aorta, Increased serum bile acid concen... |
ORPHA:101028 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Hydronephrosis, Abnormal renal cortex morphology, Renal insufficiency, Rec... |
ORPHA:93101 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Porphyrinuria, Purple urine, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis... |
ORPHA:79277 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Steatorrhea, Renal cyst, Dark urine, ... |
ORPHA:79303 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Urethral stenosis, Tetralogy of Fallot, Transposition of the great arter... |
ORPHA:1727 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610333 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glo... |
OMIM:614377 |
Meckel Syndrome, Type 1 |
|
Asplenia, Hypoplasia of the bladder, Abnormal cardiac septum morphology, Polycystic kidney dyspla... |
OMIM:249000 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Roifman Syndrome |
|
Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Eosinophilia, Hepatomeg... |
OMIM:616651 |
Birt-Hogg-Dube Syndrome |
|
Renal cyst, Renal neoplasm, Renal cell carcinoma |
OMIM:135150 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... |
OMIM:194380 |
Tularemia |
|
Anemia, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Leukocytosis, Cervical lymph... |
ORPHA:3392 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis |
ORPHA:172 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... |
ORPHA:255249 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Pericarditis, Renal interstitial immunoglobulin deposits, Membranous... |
ORPHA:449395 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... |
OMIM:616278 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Abnormal vena cava morphology, Horseshoe kidney, Heart murmur |
ORPHA:166035 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Dilated cardiomyopathy, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:602390 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph... |
ORPHA:231160 |
Legionnaires Disease |
|
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Pericarditis, Lymphadeno... |
ORPHA:549 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hem... |
OMIM:266200 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Splenomegaly, Pericardial effusion, Hematuria, Lymphadenopathy, Hepatomegaly, Pro... |
ORPHA:36412 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia, Ventricular septal... |
OMIM:606232 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:391 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ... |
ORPHA:231214 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Patent ductus arteriosus, Restrictive cardiomyopathy, Hydroureter, Renal cyst, Ureteral stenosis,... |
OMIM:615398 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Dent Disease |
|
Renal phosphate wasting, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, ... |
ORPHA:1652 |
Griscelli Syndrome |
|
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... |
ORPHA:381 |
Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal leukocyte morphology, Abnormal urinary color, Hemolytic anemia |
ORPHA:98375 |
Ogden Syndrome |
|
Patent foramen ovale, Microvesicular hepatic steatosis, Ventricular septal defect, Perimembranous... |
OMIM:300855 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... |
OMIM:611788 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Pancreatic cysts, Anemia, Biliary cirrhosis, Liver abscess, Abno... |
ORPHA:284 |
Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Jaundice, Atrial septal defect, Hepatomegaly, Thrombocytopenia... |
ORPHA:290 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly |
OMIM:300635 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Renal insufficiency, Hypertension, Proteinuria |
ORPHA:90321 |
Scrub Typhus |
|
Lymphadenopathy, Myocarditis, Renal insufficiency, Splenomegaly |
ORPHA:83317 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Proteinuria, Hematuria, Pulmonary venous hypertension |
ORPHA:90060 |
3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Renal cyst, Hepatic steatosis, Infection associated neutropenia, Bon... |
ORPHA:445038 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal dysplasia, Mitral stenosis, Coarctation of aorta, Renal cyst |
OMIM:617260 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly |
OMIM:619658 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Anemia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphaden... |
OMIM:615895 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... |
OMIM:235700 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Glomerulopathy, Abnormality of the liver, Pancytopenia, Macrocytic ane... |
ORPHA:2169 |
Kleefstra Syndrome |
|
Vesicoureteral reflux, Hypoplasia of penis, Coar |