Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
Hemoglobin D Disease |
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Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Fetal Cytomegalovirus Syndrome |
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Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... |
ORPHA:766 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Reticuloendotheliosis, X-Linked |
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Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Renal Failure, Progressive, With Hypertension |
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Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... |
OMIM:161900 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Hemoglobin H Disease |
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Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Aapoaiv Amyloidosis |
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Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... |
ORPHA:439232 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating ... |
ORPHA:567544 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
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Jaundice, Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Interstitial Nephritis, Karyomegalic |
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Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
Nephronophthisis 16 |
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Hypertrophic cardiomyopathy, Hepatic fibrosis, Nephronophthisis, Situs inversus totalis, Pulmonic... |
OMIM:615382 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemol... |
OMIM:618495 |
Pulmonary Nodular Lymphoid Hyperplasia |
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Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
RCAD (renal cysts and diabetes) |
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Multiple renal cysts |
DECIPHER:47 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
Autosomal Dominant Polycystic Kidney Disease |
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Abnormal systemic arterial morphology, Hypertension, Pancreatic cysts, Aortic root aneurysm, Decr... |
ORPHA:730 |
Congenital Disorder Of Glycosylation, Type Il |
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Hepatomegaly, Pericardial effusion, Ascites, Hepatosplenomegaly, Polycystic kidney dysplasia, Abn... |
OMIM:608776 |
Bardet-Biedl Syndrome 10 |
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Renal insufficiency, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
Mu-Heavy Chain Disease |
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Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... |
ORPHA:100024 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Hemoglobinuria, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-... |
OMIM:300908 |
Genitopalatocardiac Syndrome |
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Hypospadias, Double outlet right ventricle, Renal cyst, Right aortic arch, Transposition of the g... |
OMIM:231060 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... |
ORPHA:86841 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin |
ORPHA:3319 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemia, Vascular dilatation, Nephropathy, ... |
OMIM:617056 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Hepatic fibrosis, Asplenia, Polysplenia, Pancreatic cysts, Bile duct proliferation,... |
OMIM:208540 |
Isolated Polycystic Liver Disease |
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Gastrointestinal hemorrhage, Vascular dilatation, Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
Trimethylaminuria |
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Anemia, Trimethylaminuria, Neutropenia, Splenomegaly |
OMIM:602079 |
Nephronophthisis 2 |
|
Hyperkalemia, Hypertension, Pulmonary insufficiency, Chronic tubulointerstitial nephritis, Nephro... |
OMIM:602088 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
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Lymphadenopathy |
ORPHA:319600 |
C3 Glomerulopathy |
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Hypertension, Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage... |
ORPHA:329918 |
Hemoglobin E Disease |
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Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Squamous Cell Carcinoma Of The Esophagus |
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Lymphadenopathy |
ORPHA:99977 |
Preeclampsia |
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Hypertension, Elevated diastolic blood pressure, Elevated circulating creatinine concentration, P... |
ORPHA:275555 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Hypertension, Abnormal aortic morphology, Cardiomyopathy, Hyperuricemia, Renal insufficiency, Arr... |
ORPHA:3222 |
Campomelia, Cumming Type |
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Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease |
OMIM:211890 |
Bardet-Biedl Syndrome 16 |
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Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney |
OMIM:615993 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
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Retinal arteriolar tortuosity, Hematuria, Renal cyst, Raynaud phenomenon, Vascular dilatation, Ne... |
OMIM:611773 |
Distal Trisomy 14Q |
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Abnormal aortic morphology, Abnormality of the upper urinary tract, Patent ductus arteriosus |
ORPHA:1705 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis |
OMIM:614844 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Hypertension, Abnormal renal cort... |
OMIM:616733 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Joubert Syndrome 35 |
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Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis |
OMIM:618161 |
Renal Dysplasia, Cystic, Susceptibility To |
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Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Renal cortical adenoma,... |
OMIM:145001 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Hypertension, Abnormal nephron morphology, Abn... |
ORPHA:2260 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy, Tetralogy of Fallot |
ORPHA:3033 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... |
OMIM:613673 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Orotic Aciduria |
|
Ventricular septal defect, Hypochromia, Oroticaciduria, Hematuria, Orotic acid crystalluria, Anis... |
OMIM:258900 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Igg4-Related Retroperitoneal Fibrosis |
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Hypertension, Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Budd-Chiari syndrome... |
ORPHA:49041 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Elevated circulating creatinine concentration, Hepatic cysts, Stage 5 chronic kidne... |
OMIM:613095 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612926 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom... |
OMIM:619468 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hypoparathyroidism, Hypochromic microcytic anemia, Hepatic fibrosis, Hepa... |
ORPHA:231226 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Hypertension, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hem... |
OMIM:610205 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Abnormal heart morphology, Hypoplasia of the thymus, Intrahepatic biliary dysgenesi... |
OMIM:214110 |
Igg4-Related Aortitis |
|
Aortic dissection, Abnormal aortic arch morphology, Hydronephrosis, Ascending tubular aorta aneur... |
ORPHA:449400 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia, Jaundice |
ORPHA:858 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Renovascular hypertension, Arterial fibromuscular dysplasia, Intermittent clau... |
OMIM:135580 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypertension, Nephrocalcinosis, Coronary artery calcification, Myocardial infarction, Congestive ... |
OMIM:614473 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency |
ORPHA:100025 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Renal hypoplasia/aplasia, Abnormality of the pulmonary artery, Tetral... |
ORPHA:1166 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... |
OMIM:617514 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Abnormal vascular morphology, Arterial tortuosity, Arterial calcification, Coronary artery calcif... |
ORPHA:289601 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Truncus arteriosus, Systolic heart murmur, Persistent left superior vena... |
OMIM:617478 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension, Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-ur... |
OMIM:235400 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... |
OMIM:607685 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Caroli Disease |
|
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Syndromic Diarrhea |
|
Thrombocytosis, Renal hypoplasia, Increased mean platelet volume, Hepatomegaly, Hepatic fibrosis,... |
ORPHA:84064 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Truncus arteriosus, Renal cyst |
OMIM:228940 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... |
OMIM:603278 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis... |
ORPHA:848 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... |
ORPHA:79233 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery |
OMIM:600666 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... |
ORPHA:1046 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Hepatic cysts, Polycystic kidney dys... |
OMIM:173900 |
Tubulointerstitial Nephritis With Uveitis |
|
Glomerulonephritis, Reversible renal failure, Acute tubulointerstitial nephritis, Elevated circul... |
OMIM:607665 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Acute kidney injury, Congenital thrombocytopen... |
OMIM:618886 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... |
ORPHA:71275 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Cold Agglutinin Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia |
ORPHA:56425 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemoly... |
OMIM:618278 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Decreased serum creatinine, Myocardial infarction, Acute kidney injury, Proteinuria, R... |
ORPHA:54057 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Ascites, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Hypertension, Increased blood urea nitrogen, Membranoprolif... |
ORPHA:251004 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
Cystic Hamartoma Of Lung And Kidney |
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Multicystic kidney dysplasia, Hypertension |
ORPHA:2111 |
Galactose Epimerase Deficiency |
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Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Immunodeficiency 69 |
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Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Amyloidosis, Familial Visceral |
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Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria |
OMIM:105200 |
Immunodeficiency 76 |
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B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Nephrotic Syndrome, Type 6 |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... |
OMIM:614196 |
Alport Syndrome |
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IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... |
ORPHA:63 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
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Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Cystic renal dysplasia, Hepatomegaly, Hypertrophic cardiomyopathy, Truncus arteriosus, Hepatic fi... |
OMIM:615415 |
Ghosal Hematodiaphyseal Dysplasia |
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Anemia, Splenomegaly |
ORPHA:1802 |
Caroli Syndrome |
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Abnormality of the intrahepatic bile duct, Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarc... |
ORPHA:480520 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Renal cyst |
OMIM:614870 |
Indomethacin Embryofetopathy |
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Cardiomyopathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Rena... |
ORPHA:1909 |
Cyanosis, Transient Neonatal |
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Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Granulomatous Slack Skin |
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Acute kidney injury, Abnormality of the lymph nodes, Nephrocalcinosis |
ORPHA:33111 |
Drug-Induced Lupus Erythematosus |
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Pericarditis, Elevated circulating creatine kinase concentration, Hematuria, Prolonged QTc interv... |
ORPHA:231111 |
Heme Oxygenase 1 Deficiency |
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Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hematu... |
OMIM:614034 |
Encephalopathy Due To Prosaposin Deficiency |
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Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Immunodeficiency 14A, Autosomal Dominant |
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Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Cryoglobulinemia, Familial Mixed |
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Hypertension, Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration... |
OMIM:123550 |
Immunodeficiency 27A |
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Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Hydronephrosis, Hepatic calcification... |
OMIM:608836 |
Meckel Syndrome, Type 11 |
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Polycystic kidney dysplasia |
OMIM:615397 |
Sickle Cell Anemia |
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Leukocytosis, Hepatomegaly, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... |
OMIM:603903 |
Red Cell Phospholipid Defect With Hemolysis |
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Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Schnitzler Syndrome |
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Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Lymphadenopathy, Hepatomegaly, Dilated cardiomyopathy |
OMIM:615895 |
Autosomal Recessive Polycystic Kidney Disease |
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Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
Hemochromatosis, Type 2B |
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Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis |
OMIM:613313 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Lymphoproliferative Syndrome 3 |
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Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Neuraminidase Deficiency |
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Hepatomegaly, Ascites, Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, ... |
OMIM:256550 |
Lysinuric Protein Intolerance |
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Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... |
ORPHA:470 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Hypertension, Orthostatic hypotension, Abnormal renal physiology, Elevated circulating creatinine... |
OMIM:223900 |
Hodgkin Lymphoma |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Splenomegaly |
OMIM:615947 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
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Goiter, Renal oncocytoma, Nodular goiter, Renal cortical adenoma, Abnormality of the lymph nodes,... |
ORPHA:97290 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... |
OMIM:274150 |
Acquired Idiopathic Sideroblastic Anemia |
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Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porp... |
OMIM:618892 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Abnormal heart morphology, Polycystic kidney dysplasia, Periportal fibrosis |
OMIM:263210 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Follicular Lymphoma |
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Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Anemia |
ORPHA:158014 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... |
ORPHA:228308 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hepatomegaly, Splenomegaly |
OMIM:618541 |
Bardet-Biedl Syndrome 4 |
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Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Immunodeficiency 84 |
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B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
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Multicystic kidney dysplasia |
ORPHA:2091 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... |
OMIM:612561 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
Meckel Syndrome 13 |
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Polycystic kidney dysplasia |
OMIM:617562 |
Congenital Megacalycosis |
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Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Hypouricemia, Renal, 1 |
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Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Ethylmalonic aciduria, Renal cortical cysts, Hepatomegaly, Generalized aminoaciduria, Proximal tu... |
OMIM:231680 |
Acetophenetidin Sensitivity |
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Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Immunodeficiency 7 |
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Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Femoral-Facial Syndrome |
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Long penis, Abnormal localization of kidney, Renal hypoplasia/aplasia, Polycystic kidney dysplasi... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... |
OMIM:614376 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Medullary cystic kidney disease 2 |
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Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
Pauci-Immune Glomerulonephritis |
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Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... |
ORPHA:93126 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Renal tubular atrophy, Hypertension, Decreased HDL cholesterol concentration, Tubulointerstitial ... |
ORPHA:85450 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnormality of the p... |
ORPHA:54251 |
Hypertriglyceridemia, Transient Infantile |
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Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
Omenn Syndrome |
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B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Cardiogenic Shock |
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Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated circulating creatin... |
ORPHA:97292 |
Thomas Syndrome |
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Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Nephronophthisis 19 |
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Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney... |
OMIM:616217 |
Coproporphyria, Hereditary |
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Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal QRS complex, Abnormality of bl... |
ORPHA:860 |
Immunodeficiency 72 With Autoinflammation |
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Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy |
OMIM:618982 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Hypertension, Telangiectasia, Elevated circulating creatinine concentration, Glomerular sclerosis... |
ORPHA:247691 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
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Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Thrombocytopenia, ... |
ORPHA:79312 |
Nephronophthisis 1 |
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Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... |
OMIM:256100 |
Niemann-Pick Disease, Type B |
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Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Renal dysplasia, Anemia, Renal cyst, Stage 5 ch... |
OMIM:266920 |
Gray Platelet Syndrome |
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Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Rhabdoid Tumor |
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Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Renal neoplasm, Thrombocytopenia |
ORPHA:69077 |
Combined Saposin Deficiency |
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Hepatomegaly, Splenomegaly |
OMIM:611721 |
Fanconi Renotubular Syndrome 5 |
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Hypertension, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glyc... |
OMIM:618913 |
Indolent Systemic Mastocytosis |
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Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Ethylmalonic aciduria, Hepatomegaly, Lacticaciduria, Abnormal heart morphology, Glutaric aciduria... |
ORPHA:26791 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune... |
OMIM:613011 |
Osteopetrosis, Autosomal Recessive 8 |
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Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Focal Segmental Glomerulosclerosis 7 |
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Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Burkitt Lymphoma |
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Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... |
ORPHA:543 |
Distal Tetrasomy 15Q |
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Horseshoe kidney, Hydronephrosis, Abnormal heart morphology, Polycystic kidney dysplasia, Atrial ... |
ORPHA:314588 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Pfapa Syndrome |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Hypertension, Elevated circulating creatinine concentration |
OMIM:619111 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Nodular goiter, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Pa... |
ORPHA:319487 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal h... |
OMIM:252920 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Dopamine Beta-Hydroxylase Deficiency |
|
Syncope, Orthostatic hypotension, Orthostatic syncope, Elevated circulating creatinine concentrat... |
ORPHA:230 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... |
OMIM:132900 |
Familial Aortic Dissection |
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Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... |
ORPHA:229 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... |
ORPHA:157 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Hypoparathyroidism, Erythroid hyperplasia, Elevated hepatic iron conc... |
ORPHA:231222 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency, ... |
ORPHA:108 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
Relapsing Fever |
|
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Epis... |
ORPHA:91547 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney |
OMIM:613730 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Decreased urine output, Reduced ejection fraction, Elevated circulating creatinine concentration,... |
ORPHA:542323 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Hepatomegaly, Nephrotic syndrome, Splenomegaly |
OMIM:615846 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia |
ORPHA:482 |
Castleman Disease |
|
Ureteral obstruction, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Hemat... |
ORPHA:160 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired ox... |
OMIM:618935 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... |
OMIM:615122 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia |
ORPHA:3032 |
Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Renal ... |
OMIM:619644 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:608540 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia |
OMIM:608184 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... |
OMIM:308240 |
Trisomy 17P |
|
Urethral valve, Hydronephrosis, Urethral stenosis, Polycystic kidney dysplasia, Hypoplastic left ... |
ORPHA:261290 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality ... |
ORPHA:911 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Hepatic fibrosis, Ascites, Renal cyst, Polycystic kidney dysplasia |
OMIM:614091 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia |
OMIM:617827 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Abnormal heart valve morp... |
ORPHA:93476 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol... |
OMIM:137920 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... |
OMIM:612541 |
Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... |
ORPHA:84090 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Intermittent thrombocyto... |
OMIM:150550 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... |
ORPHA:93108 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Hyperparathyroidism, Splenomegaly |
OMIM:618107 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Biliary tract obstruction... |
ORPHA:400 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Abnormal heart morphology, Renal cyst, Stage 5 chronic kidney disease, Cryptorchi... |
OMIM:613390 |
Coach Syndrome 1 |
|
Hypertension, Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic... |
OMIM:216360 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
Uremic Pruritus |
|
Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate... |
ORPHA:94059 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Multiple glomerular cys... |
OMIM:267010 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... |
ORPHA:39041 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Glomerulonephritis |
ORPHA:99931 |
Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital posterior urethral valve, Patent ductus arteriosus, Urogeni... |
ORPHA:2970 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis |
OMIM:616959 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Hepatitis, Cholelithi... |
OMIM:194380 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Abnormal lymphatic vessel morphology, Pericardial effusion, Lymphangioma, Abnor... |
ORPHA:464329 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Branchiootorenal Syndrome 1 |
|
Renal agenesis, Renal malrotation, Renal dysplasia, Euthyroid goiter, Polycystic kidney dysplasia... |
OMIM:113650 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Abdominal situs inversus, Renal agenes... |
OMIM:306955 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal dysplasia, Renal cyst, Renal hypoplasia, Ureteral agenesis |
OMIM:236500 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine, Elevated systolic bl... |
OMIM:300539 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
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Pseudocoarctation of the aorta, Patent ductus arteriosus |
ORPHA:228190 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Hepatomegaly, Abnormal heart morphology, Renal cyst, Intrahepatic biliary dysgenesis, Splenomegal... |
OMIM:614866 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Verheij Syndrome |
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Renal hypoplasia, Renal agenesis, Renal cyst |
OMIM:615583 |
Meckel Syndrome, Type 1 |
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Abnormality of the ureter, Malformation of the hepatic ductal plate, Renal agenesis, Asplenia, Bi... |
OMIM:249000 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Hepatocellular carcinoma, Abnormal ren... |
ORPHA:158057 |
Aorto-Ventricular Tunnel |
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Abnormal aortic morphology, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive... |
ORPHA:3400 |
Igg4-Related Kidney Disease |
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Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... |
ORPHA:449395 |
Desmoplastic Small Round Cell Tumor |
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Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Anemia, Ab... |
ORPHA:83469 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hydronephrosis, Hypoparathyroidism, Renal dysplasia, Abnormal heart morphology, Unilateral renal ... |
ORPHA:2237 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Axial Osteomalacia |
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Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
Candidiasis, Familial, 2 |
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Lymphadenopathy, Hypereosinophilia |
OMIM:212050 |
Homozygous Familial Hypercholesterolemia |
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Coronary artery aneurysm, Hyperlipidemia, Premature coronary artery atherosclerosis, Abnormal lef... |
ORPHA:391665 |
Purine Nucleoside Phosphorylase Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Pure red cell aplasi... |
OMIM:613179 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Diamond-Blackfan Anemia 7 |
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Horseshoe kidney, Macrocytic anemia, Ventricular septal defect, Neutropenia, Increased mean corpu... |
OMIM:612562 |
Immunodeficiency 54 |
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Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... |
OMIM:609981 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Hydronephrosis, Elevated circulating creatine kinase concentration, Renal dysplasia, Renal cyst, ... |
OMIM:615287 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... |
ORPHA:79301 |
Autoimmune Hemolytic Anemia |
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Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Griscelli Syndrome Type 2 |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Kallmann Syndrome-Heart Disease Syndrome |
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Dilated cardiomyopathy, Pulmonary insufficiency, Renal agenesis, Mitral regurgitation, Double out... |
ORPHA:2326 |
Cholestasis-Lymphedema Syndrome |
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Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... |
ORPHA:1414 |
Senior-Boichis Syndrome |
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Renal hypoplasia, Hypertension, Abnormal renal insterstitial morphology, Thickening of the tubula... |
ORPHA:84081 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... |
OMIM:616278 |
Odontochondrodysplasia 1 |
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Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
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Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... |
ORPHA:228302 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Splenomegaly |
OMIM:616452 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Aplasia of the thymus, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
Progressive Familial Intrahepatic Cholestasis |
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Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
Erythrocytosis, Familial, 1 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Aicardi-Goutieres Syndrome 4 |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Joubert Syndrome 20 |
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Renal cyst |
OMIM:614970 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Splenoportal Vascular Anomalies |
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Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Ureteral duplication, Hydronephrosis, Renal hypoplasia/aplasia, Micro... |
ORPHA:1926 |
Hemochromatosis, Type 1 |
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Testicular atrophy, Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy... |
OMIM:235200 |
Arima Syndrome |
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Renal tubular atrophy, Hepatomegaly, Occipital meningocele, Hepatic fibrosis, Nephronophthisis, T... |
OMIM:243910 |
Gamma-Heavy Chain Disease |
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Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
Spherocytosis, Type 2 |
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Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Transketolase Deficiency |
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Elevated circulating ribitol concentration, Renal cyst, Patent ductus arteriosus, Increased level... |
ORPHA:488618 |
Caspase 8 Deficiency |
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Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
Thrombocythemia 1 |
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Thrombocytosis, Splenomegaly |
OMIM:187950 |
Deafness-Lymphedema-Leukemia Syndrome |
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Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Spherocytosis, Type 4 |
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Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Cryohydrocytosis |
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Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
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Pseudocoarctation of the aorta, Patent ductus arteriosus |
OMIM:604381 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Lymphadenopathy, Thrombocytopenia |
OMIM:618048 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Left-to-right shunt, Abnormal aortic arch morphology, Abnormal descending aorta morphology, Arter... |
ORPHA:99050 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Meckel Syndrome, Type 10 |
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Hypospadias, Micropenis, Renal cyst |
OMIM:614175 |
Hemochromatosis, Type 2A |
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Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis |
OMIM:602390 |
Felty Syndrome |
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Hepatomegaly, Neutropenia, Pericarditis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia,... |
ORPHA:47612 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
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Lymphadenopathy |
OMIM:617772 |
Tuberous Sclerosis Complex |
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Cardiac rhabdomyoma, Pheochromocytoma, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 c... |
ORPHA:805 |
Short Rib-Polydactyly Syndrome |
|
Hypospadias, Hepatic fibrosis, Nephronophthisis, Hepatic cysts, Situs inversus totalis, Abnormal ... |
ORPHA:1505 |
22Q11.2 Deletion Syndrome |
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Hypospadias, Truncus arteriosus, Hypoplasia of the thymus, Splenomegaly, Meningocele, Ventricular... |
ORPHA:567 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Cardiomyopathy, Renal insu... |
OMIM:614922 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Azo... |
OMIM:104200 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Absence of lymph node germinal... |
ORPHA:277 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Attrv30M Amyloidosis |
|
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy |
ORPHA:85447 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Anemia, Abnormal... |
ORPHA:98850 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... |
OMIM:602522 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Pericarditis, Splenomegaly |
ORPHA:85414 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus, ... |
ORPHA:1727 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Coarctation of aorta, Renal cyst, Mitral stenosis, Patent ductus arteriosus |
OMIM:617260 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Congenital Erythropoietic Porphyria |
|
Erythroid hyperplasia, Leukopenia, Purple urine, Red-brown urine, Porphyrinuria, Splenomegaly, In... |
ORPHA:79277 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly |
OMIM:602271 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microc... |
ORPHA:231214 |
Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Splenomeg... |
OMIM:616651 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:619658 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly |
ORPHA:391 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Anemia, Splenomegaly, Atrial septal defect, Thrombocytop... |
ORPHA:290 |
Papillorenal Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron... |
OMIM:120330 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Gaucher Disease, Type Ii |
|
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
Legionnaires Disease |
|
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Hematuria, Hepatitis, Bone marrow hypoc... |
ORPHA:549 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Ascites, Lymphadenopathy, Hematuria, Splenomegaly, Abnormal h... |
ORPHA:36412 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Restrictive cardiomyopathy, Renal cyst, Patent ductus arteriosus, Ureteral sten... |
OMIM:615398 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:664 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo... |
ORPHA:93101 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu... |
ORPHA:411634 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Alveolar Echinococcosis |
|
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Anemia, Renal ... |
ORPHA:284 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, Abnormal heart morphology, Hepatic cysts, P... |
OMIM:311200 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
Scrub Typhus |
|
Lymphadenopathy, Renal insufficiency, Myocarditis, Splenomegaly |
ORPHA:83317 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... |
ORPHA:340 |
Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... |
ORPHA:381 |
Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Nephropathy, Splenomegaly |
ORPHA:87876 |
Tularemia |
|
Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Anemia, Cervical ly... |
ORPHA:3392 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm |
OMIM:613780 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Leukopenia, Ascites, Biliary tract obstruction, Hematuria, An... |
ORPHA:77259 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Transaldolase Deficiency |
|
Abnormal circulating glutamine concentration, Telangiectasia, Coarctation of aorta, Increased ser... |
ORPHA:101028 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Polycystic kidney dysplasia, Abnormality of the kidney, Vesicoureteral... |
OMIM:606232 |
Renal Coloboma Syndrome |
|
Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins... |
ORPHA:1475 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... |
OMIM:612714 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Birt-Hogg-Dube Syndrome |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... |
ORPHA:158061 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom... |
ORPHA:288 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Hereditary Orotic Aciduria |
|
Abnormality of the ureter, Oroticaciduria, Anemia, Orotic acid crystalluria, Splenomegaly, Aminoa... |
ORPHA:30 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Glomerulonephritis, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, An... |
OMIM:304790 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst |
OMIM:611560 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Nephrocalcinosis, Cardiomyopath... |
OMIM:616084 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... |
OMIM:616100 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Dilated cardiomyopathy, Neutropenia, Abnormal heart morphology, A... |
ORPHA:398124 |
Congenital Bile Acid Synthesis Defect Type 2 |
|