Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Severe Primary Trimethylaminuria |
|
Trimethylaminuria, Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low se... |
ORPHA:468726 |
Lipedema |
|
Edema |
OMIM:614103 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver |
OMIM:235550 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Congenital Megacalycosis |
|
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... |
ORPHA:93109 |
Nephronophthisis 16 |
|
Enlarged kidney, Cholestasis, Polycystic kidney dysplasia, Renal insufficiency, Nephronophthisis,... |
OMIM:615382 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Obsessive-Compulsive Disorder |
|
Anxiety, Depression, Skin-picking |
OMIM:164230 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... |
OMIM:613496 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... |
OMIM:263200 |
Immunodeficiency 104 |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly |
OMIM:608971 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Lymp... |
OMIM:618495 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice |
OMIM:206400 |
Burkitt Lymphoma |
|
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... |
ORPHA:543 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... |
OMIM:619126 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency |
ORPHA:100025 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis |
OMIM:615415 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Urete... |
OMIM:208540 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis |
OMIM:614480 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy |
OMIM:618852 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carc... |
ORPHA:882 |
Nephronophthisis 19 |
|
Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Stage 5 chron... |
OMIM:616217 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia |
OMIM:269600 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... |
ORPHA:444463 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Lymphadenopat... |
ORPHA:100024 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly |
OMIM:269840 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Aa Amyloidosis |
|
Enlarged kidney, Nephrotic syndrome, Cholestasis, Acute kidney injury, Proteinuria, Abnormality o... |
ORPHA:85445 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:66661 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... |
OMIM:615234 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... |
OMIM:603902 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Cholestasis, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy |
OMIM:105200 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Enuresis, Emotional lability, Irritability, Separation in... |
ORPHA:66624 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenopathy, Elevated hepatic transaminase, Hepatomegaly |
OMIM:615895 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the pancreas, Abnormal testis morphology, Neutrophilia, Abnormality of the kidney,... |
ORPHA:54251 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... |
OMIM:133180 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Hepatomegaly, Anemia, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis, H... |
OMIM:613313 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... |
OMIM:603552 |
Renal Dysplasia |
|
Pelvic mass, Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic... |
ORPHA:93108 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... |
OMIM:615285 |
Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Pancreatic cysts, Hematuria, Decrea... |
ORPHA:730 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Stage 5 chronic kidney disease, Nephr... |
OMIM:615559 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Renal cortical adenoma, Papillary renal cell carcinoma, Chronic noninfectious lymphadenop... |
ORPHA:97290 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly |
OMIM:618541 |
Nephronophthisis 2 |
|
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... |
OMIM:602088 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... |
OMIM:619658 |
Tyrosinemia, Type I |
|
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Ascites, Pancrea... |
OMIM:276700 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... |
ORPHA:79301 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... |
OMIM:616002 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum |
ORPHA:545 |
Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria |
OMIM:602079 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:618261 |
Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
Granulomatous Slack Skin |
|
Abnormality of the lymph nodes, Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Immunodeficiency 76 |
|
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia |
OMIM:619164 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis |
OMIM:271500 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly |
OMIM:607685 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... |
ORPHA:464329 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... |
OMIM:619375 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Ascites, Hepatomegaly, Pancreatic fibrosis, Polysplenia,... |
OMIM:200995 |
Alpha-Thalassemia |
|
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... |
ORPHA:846 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... |
OMIM:617514 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... |
OMIM:612840 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Splenomegaly, Hepatomegaly |
OMIM:616719 |
Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... |
OMIM:615513 |
Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... |
OMIM:614470 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... |
OMIM:602347 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemi... |
OMIM:616278 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:610293 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Nephrotic syndrome, Proteinuria, Spleno... |
OMIM:617303 |
Myoclonus-Dystonia Syndrome |
|
Anxiety, Depression, Personality disorder, Panic attack |
ORPHA:36899 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... |
ORPHA:731 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Polycystic ovaries |
OMIM:142330 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Heme Oxygenase 1 Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Hematuria, Proteinuria, Thrombocytos... |
OMIM:614034 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Ceroid storage disease |
|
Hepatic failure, Abnormality of the spleen |
OMIM:214200 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney d... |
OMIM:617805 |
Desmoplastic Small Round Cell Tumor |
|
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Anemia, Abnormality of the peritoneum, Lymph... |
ORPHA:83469 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... |
OMIM:617394 |
Isolated Splenogonadal Fusion |
|
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... |
ORPHA:457083 |
Immunodeficiency 72 With Autoinflammation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count |
OMIM:618982 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... |
ORPHA:1414 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormality of the... |
ORPHA:319487 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis |
ORPHA:172 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,... |
ORPHA:276280 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia |
OMIM:613101 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... |
ORPHA:98848 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... |
OMIM:616860 |
Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
Immunodeficiency 7 |
|
Hypereosinophilia, Lymphadenopathy |
OMIM:615387 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Immunodeficiency 64 |
|
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... |
OMIM:618534 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hepatomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... |
OMIM:121300 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hepatomegaly, Hypogonadism |
OMIM:608540 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Chronic kidney disease, Congenital hepatic fibrosis, Premature ov... |
ORPHA:3156 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia, Splenomegaly, Hypoplasia of penis, Anemia, A... |
ORPHA:1046 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Proteinuria, Renal interstitial amyloid deposits, Anemia, Oligospermia, Decreased glomerular filt... |
ORPHA:85450 |
Igg4-Related Kidney Disease |
|
Abnormality of the anterior pituitary, Proteinuria, Hydronephrosis, Prostatitis, Membranous nephr... |
ORPHA:449395 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Ele... |
OMIM:616828 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
H Syndrome |
|
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Micropenis, Azoospermia, A... |
ORPHA:168569 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Pericardial effusion |
OMIM:618773 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Cirrhosis |
OMIM:602390 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... |
OMIM:300853 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... |
OMIM:143400 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Elevated hepatic transaminase, Ascites, Cardiome... |
ORPHA:858 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Lymph node hypoplasia, Genital ulcers, Aplasia of the thymus |
OMIM:602450 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:615631 |
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
Immunodeficiency 69 |
|
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia |
OMIM:618963 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
Klatskin Tumor |
|
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Jaundice, Lymphadenopathy |
ORPHA:99978 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Elevated circulating alanine aminotransferase concentration, Ureteral duplicatio... |
OMIM:608836 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:2584 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... |
OMIM:607594 |
Harderoporphyria |
|
Red urine, Splenomegaly, Hepatomegaly, Increased urinary porphobilinogen, Increased urine hardero... |
OMIM:618892 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis |
ORPHA:75234 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Ovarian Fibroma |
|
Mesenteric cyst, Abnormality of the ovary, Peritonitis, Gonadal calcification, Ascites, Ovarian f... |
ORPHA:314473 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... |
OMIM:209950 |
Niemann-Pick Disease, Type B |
|
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:607616 |
Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... |
OMIM:615122 |
Nephroblastoma |
|
Lymphadenopathy, Nephroblastoma, Neoplasm of the liver, Hematuria |
ORPHA:654 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... |
OMIM:613812 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Hepatic failure, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphad... |
OMIM:308240 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... |
OMIM:232220 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... |
OMIM:232200 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney, Septate vagina, Accessory spleen, Male pseudohermaphroditism, ... |
OMIM:608978 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Enlarged kidney, Urethral atresia |
OMIM:314390 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy |
ORPHA:79477 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... |
OMIM:603554 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Portal Hypertension, Noncirrhotic, 2 |
|
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Eleva... |
OMIM:619463 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:222800 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia |
OMIM:615085 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Mediastinal lymphadenopathy, Hepatomegaly |
ORPHA:79128 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... |
ORPHA:507 |
Gonadoblastoma |
|
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... |
ORPHA:206484 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Rhabdoid Tumor |
|
Renal neoplasm, Hematuria, Neoplasm of the liver, Anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:69077 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Hepatosplenomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Nephrotic syndrome,... |
OMIM:619644 |
Beta-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Ane... |
ORPHA:848 |
Beckwith-Wiedemann Syndrome |
|
Hepatoblastoma, Nephrocalcinosis, Renal cortical cysts, Enlarged kidney, Nephrolithiasis, Cryptor... |
OMIM:130650 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... |
OMIM:603909 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Splenomegaly |
ORPHA:664 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly |
ORPHA:391 |
Autoimmune Lymphoproliferative Syndrome |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... |
OMIM:601859 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Abnormal liver lobulation, Nephroblast... |
OMIM:608022 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Glycogen Storage Disease Ixc |
|
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... |
OMIM:613027 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Elevated hepatic transaminase |
ORPHA:75563 |
Aicardi-Goutieres Syndrome 7 |
|
Nephrotic syndrome, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615846 |
Testicular Regression Syndrome |
|
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... |
ORPHA:983 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Tetragametic Chimerism |
|
Perineal hypospadias, Ovotestis, Micropenis, Cryptorchidism, Abnormality of the ovary, True herma... |
ORPHA:199310 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:235700 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... |
OMIM:224120 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy, Abnormality of the peritoneum, Ascites |
ORPHA:26790 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Splenomegaly |
OMIM:611762 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Thro... |
OMIM:610333 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:85414 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Renal tubular... |
OMIM:613092 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Pancytopenia, Hepatic failure, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Sple... |
ORPHA:158057 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... |
OMIM:150550 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... |
OMIM:616689 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Familial Pancreatic Carcinoma |
|
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Neoplasm of the liver, Jaundice, Extrahepa... |
ORPHA:1333 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... |
OMIM:613470 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Septate vagina, Hematuria, Proteinur... |
OMIM:146255 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Abnormality of the liver, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Gl... |
ORPHA:91138 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Small scrotum, Micropenis, Cryptorchidism, Hyperechogenic kidneys, Sex reversal,... |
OMIM:612651 |
Babesiosis |
|
Hepatic failure, Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Renal insuff... |
ORPHA:108 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice, Increased mean ... |
OMIM:194380 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Leydig Cell Hypoplasia |
|
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Micropenis, Cryptorchi... |
ORPHA:755 |
Primary Myelofibrosis |
|
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... |
ORPHA:824 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Polycystic ovaries, Protei... |
ORPHA:79259 |
Ovarian Dysgenesis 2 |
|
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... |
OMIM:300510 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic steatosis, Hepatic failure, Leukopenia, Portal hypertension, Periportal fibrosis, Hepatos... |
OMIM:278000 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia |
ORPHA:231401 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... |
ORPHA:3226 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... |
ORPHA:766 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Galactosemia I |
|
Decreased liver function, Hepatomegaly, Hypergonadotropic hypogonadism, Aminoaciduria, Hemolytic ... |
OMIM:230400 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185000 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Cyclic Vomiting Syndrome |
|
Pallor, Growth delay |
OMIM:500007 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Proximal t... |
ORPHA:231222 |
Spherocytosis, Type 5 |
|
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:612690 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Testicular ... |
OMIM:235200 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Nephronophthisis 13 |
|
Nephronophthisis, Pancreatic cysts, Renal hypoplasia, Hepatic cysts, Stage 5 chronic kidney disea... |
OMIM:614377 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Lymphadenopathy |
OMIM:212050 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Elevated hepatic... |
OMIM:235555 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia |
OMIM:300635 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... |
ORPHA:75564 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... |
ORPHA:64743 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Immunodeficiency 55 |
|
Neutropenia, Lymphadenopathy |
OMIM:617827 |
46,Xy Sex Reversal 11 |
|
Aplasia of the uterus, Elevated circulating luteinizing hormone level, Abnormal internal genitali... |
OMIM:273250 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Lymphedema, Pericardial effusion, Edema, Facial edema, Pulmonary edema |
OMIM:617300 |
Hurler-Scheie Syndrome |
|
Abnormality of the tonsils, Splenomegaly, Hepatomegaly |
ORPHA:93476 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis |
OMIM:613489 |
Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hemophagocytosis, Elevated circulati... |
ORPHA:158061 |
Matthew-Wood Syndrome |
|
Horseshoe kidney, Cryptorchidism, Renal hypoplasia, Abnormal spleen morphology, Abnormality of th... |
ORPHA:2470 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... |
OMIM:607765 |
46,Xy Sex Reversal 3 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... |
OMIM:612965 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, Autoimmune thrombocytopenia,... |
ORPHA:911 |
Griscelli Syndrome |
|
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... |
ORPHA:381 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... |
OMIM:613011 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Short stature |
ORPHA:49827 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, Splenomegaly, Recurren... |
OMIM:618935 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Peritonitis, Gonadal calcification, Asc... |
ORPHA:314478 |
Cystic Echinococcosis |
|
Eosinophilia, Renal cyst, Abnormality of the testis size, Abnormality of the pancreas, Biliary tr... |
ORPHA:400 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis |
OMIM:266200 |
Caroli Disease |
|
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... |
ORPHA:53035 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... |
OMIM:266810 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... |
ORPHA:100026 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fi... |
OMIM:251880 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... |
OMIM:211600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Senior-Boichis Syndrome |
|
Cholestasis, Aggressive behavior, Reduced number of intrahepatic bile ducts, Hyperechogenic kidne... |
ORPHA:84081 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... |
ORPHA:2585 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... |
OMIM:618641 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly |
OMIM:269920 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Pheochromocytoma, Lymphadenopathy, Nodular goiter, Abnormal liver pa... |
ORPHA:1332 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... |
ORPHA:276 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Nephrotic syndrome, Splenomegaly, Hep... |
ORPHA:39041 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly |
OMIM:602271 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Hepatosplenomegaly, Leukopenia, Bone marrow hypocellularity, Proteinuria, Nephro... |
ORPHA:505248 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... |
OMIM:308230 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Splenomegaly, Hepatomegaly |
OMIM:605309 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:608184 |
Budd-Chiari Syndrome |
|
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... |
ORPHA:131 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Proteinuria, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Ep... |
ORPHA:251004 |
Spherocytosis, Type 4 |
|
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:3162 |
Sialidosis Type 2 |
|
Splenomegaly, Hepatomegaly, Nephropathy, Ascites |
ORPHA:87876 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, B lymphocytopenia, Lymp... |
ORPHA:277 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Sickle Cell Anemia |
|
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Hematuria, Splenomegaly, Hepa... |
OMIM:603903 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Transaldolase Deficiency |
|
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Decreased liver function, Anemia, C... |
OMIM:606003 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Hepatoblastoma, Enlarged kidney, Multiple renal cysts, Nephrol... |
ORPHA:116 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Renal insufficiency, Thrombocytopenia |
ORPHA:79312 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:611881 |
Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Unilateral renal agenesis, Glycosuria, Epididymal cyst, Protei... |
OMIM:137920 |
Niemann-Pick Disease, Type A |
|
Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Elevated circulat... |
OMIM:257200 |
Alg9-Cdg |
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Enlarged kidney, Ureteral hypoplasia, Periportal fibrosis, Hydronephrosis, Hepatomegaly, Hypoplas... |
ORPHA:79328 |
Elliptocytosis 1 |
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Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice |
OMIM:611804 |
Diethylstilbestrol Syndrome |
|
Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the uterus, Testicular dysgenesis, Ab... |
ORPHA:1916 |
Coach Syndrome 1 |
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Unilateral renal agenesis, Nephronophthisis, Renal cyst, Portal hypertension, Multiple small medu... |
OMIM:216360 |
Hemoglobin E Disease |
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Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Hepatic failure, Cholestasis, Chronic kidney disease, Splenomegaly, Hepatomegaly, Nephronophthisi... |
OMIM:615630 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Gonadotropin deficiency, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Azoospermia, ... |
OMIM:614837 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... |
ORPHA:2138 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Overhydrated Hereditary Stomatocytosis |
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Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... |
ORPHA:3203 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... |
OMIM:612714 |
Wolman Disease |
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Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hepatic steatosis, Renal tubular acidosis, Cholestasis, Polycystic ovaries, Splenomegaly, Hepatom... |
ORPHA:370 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Abnormal mast cell morphology, Portal hypertension, Hepatosplenomegaly, Leukemia, L... |
ORPHA:98850 |
Lig4 Syndrome |
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Pancytopenia, Leukocytosis, Cryptorchidism, Hepatomegaly, Hypoplasia of penis, Lymphadenopathy, A... |
ORPHA:99812 |
Hb Bart'S Hydrops Fetalis |
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Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly |
ORPHA:163596 |
Spherocytosis, Type 2 |
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Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... |
OMIM:616100 |
Boutonneuse Fever |
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Leukopenia, Cervical lymphadenopathy, Lymphadenopathy, Elevated hepatic transaminase, Renal insuf... |
ORPHA:83313 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor, Delayed puberty |
OMIM:600462 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hepatic failure, Hepatosplenomegaly, Micropenis, Hydronephrosis, Cryptorchidism, Pancreatic lymph... |
ORPHA:1655 |
Diffuse Cutaneous Mastocytosis |
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Abnormality of the liver, Myeloproliferative disorder, Hepatomegaly, Abnormality of the spleen, L... |
ORPHA:79456 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Hepatomegaly, Increased level of galactitol in urine, Premature ovarian insuf... |
ORPHA:79237 |
Roifman Syndrome |
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Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:353298 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:616651 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
Mullerian Aplasia And Hyperandrogenism |
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Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of th... |
OMIM:158330 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
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Thrombocytopenia, Lymphadenopathy |
OMIM:618048 |
Wilson Disease |
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Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... |
ORPHA:905 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Hypopl... |
OMIM:601076 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Polyhydramnios, Lymphedema, Edema, Facial edema |
OMIM:618154 |
Thymic Neuroendocrine Tumor |
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Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Mediastinal lymphadenopathy, Incre... |
ORPHA:97289 |
Lymphangiectasia, Pulmonary, Congenital |
|
Chylothorax, Nonimmune hydrops fetalis, Mild postnatal growth retardation, Pleural effusion, Palp... |
OMIM:265300 |
Castleman Disease |
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Hematuria, Abdominal mass, Generalized lymphadenopathy, Jaundice, Anemia, Follicular hyperplasia,... |
ORPHA:160 |
Gaucher Disease, Type Ii |
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Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Neuraminidase Deficiency |
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Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Splenomega... |
OMIM:256550 |
Leprechaunism |
|
Enlarged kidney, Nephrocalcinosis, Hypercalciuria, Long penis, Hepatomegaly, Enlarged ovaries, La... |
ORPHA:508 |
Premature Ovarian Failure 7 |
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Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... |
OMIM:612964 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
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Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Nephroblas... |
OMIM:194072 |
Cryohydrocytosis |
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Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis |
OMIM:185020 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Cardiac-Urogenital Syndrome |
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Aplasia of the uterus, Accessory spleen, Hepatopulmonary fusion, Micropenis, Cryptorchidism, Pate... |
OMIM:618280 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:608885 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Decreased liver function, Neutropenia, An... |
ORPHA:540 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... |
OMIM:613673 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Urinary retention, Polycystic ovaries, Dysuria, Abnormality of the ovary, Urinary incontinence, A... |
ORPHA:2795 |
Adult-Onset Still Disease |
|
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generalized lymphadenopathy, Hepatomegal... |
ORPHA:829 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:521 |
Kaposi Sarcoma |
|
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen |
ORPHA:33276 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Short stature |
OMIM:611590 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Hepatosplenomegaly, Renal cortical microcysts, Cryptorchidism, Splenomegaly, Hepatome... |
OMIM:614866 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Portal hypertension, Hep... |
ORPHA:79124 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia |
OMIM:613091 |
Lymphatic Filariasis |
|
Hypereosinophilia, Lymphadenitis, Nephrotic syndrome, Proteinuria, Hematuria, Lymphangiectasis, H... |
ORPHA:2035 |
Polycythemia Vera |
|
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... |
OMIM:263300 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Aplasia of the uterus, Ectopic kidney, Horseshoe kidney, Hypoplasia of... |
ORPHA:3109 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence o... |
OMIM:613179 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy, Neoplasm of the liver |
ORPHA:424019 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... |
ORPHA:567983 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Felty Syndrome |
|
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... |
ORPHA:47612 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... |
ORPHA:231154 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Splenomegaly |
OMIM:614699 |
Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Proteinuria, Ascites, Splenomegaly, Hepatomegaly, Glomerulopathy, Lymphadenopathy, Ren... |
ORPHA:36412 |
Early-Onset Schizophrenia |
|
Suicidal ideation, Unhappy demeanor, Anxiety, Anhedonia, Impairment in personality functioning, E... |
ORPHA:96369 |
American Trypanosomiasis |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:3386 |
Primary Lipodystrophy |
|
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Pancreatitis, Cirrhosis |
ORPHA:90970 |
Isolated Biliary Atresia |
|
Periportal fibrosis, Cholestasis, Bile duct proliferation, Dark yellow urine, Atretic gallbladder... |
ORPHA:30391 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic steatosis, Renal tubular acidosis, Cholestasis, Polycystic ovaries, Splenomegaly, Hepatom... |
ORPHA:264580 |
Partial Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Perineal hypospadias, Micropenis, Elevated circulating luteinizing hormone... |
ORPHA:90797 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... |
ORPHA:168563 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Glomerulopathy, Pancreatitis |
ORPHA:2348 |
Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Lymphadenopathy, Ab... |
ORPHA:1451 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Hematuria, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphaden... |
ORPHA:549 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia... |
OMIM:619151 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... |
ORPHA:169154 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:133100 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Hemoglobinuria, Pro... |
OMIM:300908 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly |
ORPHA:90037 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... |
OMIM:304790 |
Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Enlarged kidney, Horseshoe kidney, Hepatomegaly, Abdominal situs inversus, Biliar... |
OMIM:306955 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Monocytosis, Cryptorchidism, Hydronephrosis, Splenomegaly, Hepatomegaly, Neutropenia,... |
OMIM:612541 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy, Renal insufficiency |
ORPHA:83317 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:2414 |
Lumbar Syndrome |
|
Renal agenesis, Hypoplastic labia majora, Renal duplication, Micropenis, Cryptorchidism, Bladder ... |
ORPHA:83628 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Hemolytic anemia |
ORPHA:98375 |
Autoimmune Hepatitis |
|
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Ascites, Glomerulonephritis, Splenomegaly, Ja... |
ORPHA:2137 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Anemia, Lymph... |
ORPHA:3392 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Renal cyst, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomega... |
OMIM:610199 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Myoglobinuria, Anemia, El... |
ORPHA:79240 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... |
OMIM:233710 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Horseshoe kidney, Renal malrotation, Cryptorchidism, Hydronephrosis, Renal hy... |
OMIM:601186 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... |
OMIM:109270 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria, Splenomegaly, Hepatomegaly, Ascites |
ORPHA:834 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine |
OMIM:252920 |
Neonatal Lupus Erythematosus |
|
Pancytopenia, Abnormality of the liver, Hepatic failure, Splenomegaly, Hepatomegaly, Neutropenia,... |
ORPHA:398124 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphadenitis, Impaired neutroph... |
OMIM:618986 |
Complete Androgen Insensitivity Syndrome |
|
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... |
ORPHA:99429 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Congenital Rubella Syndrome |
|
Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia |
ORPHA:290 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Elevated hepatic transamin... |
OMIM:617591 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... |
ORPHA:2237 |
Senior-Loken Syndrome 8 |
|