| Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Renal interstitial fibrosis, Enlarged kid... |
OMIM:619902 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, 3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... |
OMIM:613496 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
| Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... |
OMIM:615382 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Retinal detachment, Persistent pupillary membrane |
OMIM:620253 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Chorioretinal coloboma, Iris coloboma, Microcoria |
OMIM:616428 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki... |
OMIM:263200 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613550 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Aa Amyloidosis |
|
Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Enlarged kid... |
ORPHA:85445 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... |
OMIM:225200 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... |
OMIM:616217 |
| Anterior Segment Dysgenesis 3 |
|
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... |
OMIM:601631 |
| Galactose Epimerase Deficiency |
|
Cataract, Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... |
OMIM:208540 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria |
ORPHA:882 |
| Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... |
OMIM:615415 |
| Trimethylaminuria |
|
Splenomegaly, Neutropenia, Trimethylaminuria, Anemia |
OMIM:602079 |
| Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
| Amyloidosis, Familial Visceral |
|
Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly |
OMIM:105200 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Renal tubular atrophy, Leukopenia, Enlarged kidney, Anemia, Chorioretinal hypopigmen... |
OMIM:617303 |
| Iridocorneal Endothelial Syndrome |
|
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... |
ORPHA:64734 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Combined Saposin Deficiency |
|
Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
| Galactosemia Iii |
|
Jaundice, Galactosuria, Hepatomegaly, Aminoaciduria, Splenomegaly |
OMIM:230350 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... |
ORPHA:730 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Splenomegaly, Fetal ascites |
OMIM:619462 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly, Aminoaciduria |
ORPHA:417 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Hepatomegaly, Nephropathy, Lymphadenopath... |
ORPHA:100024 |
| Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:618852 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged kidney |
OMIM:613885 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Enlarged kidney, Abnormal spleen morphology, Anemia, Multiple renal cysts, Ab... |
ORPHA:464329 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... |
ORPHA:231736 |
| Proteus-Like Syndrome |
|
Cataract, Abnormal pupil morphology, Retinal detachment, Thymus hyperplasia, Limbal dermoid, Sple... |
ORPHA:2969 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia |
OMIM:607685 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Iris coloboma, Uveitis, Buphthalmos, Persistent pupillary membrane, Shallow anterior ch... |
OMIM:221900 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis |
OMIM:614480 |
| Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... |
OMIM:232220 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly |
OMIM:616622 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:620010 |
| Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
| Mast Cell Sarcoma |
|
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
| Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Retinal detachment, ... |
OMIM:309300 |
| Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites |
OMIM:271500 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Conjunctivit... |
OMIM:603552 |
| Fish-Eye Disease |
|
Lymphadenopathy, Corneal opacity, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
| Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibrosis, Cystic renal d... |
OMIM:200995 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Abnormality of the ureter, Renal hypoplasia/aplasia, Hypoplasia of penis, Ascites, Spleno... |
ORPHA:1046 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Buphthalm... |
ORPHA:91495 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Micropenis, Asplenia, Aniridia, Ascites |
OMIM:602361 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Renal insufficiency, Hepa... |
OMIM:608836 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Hepatosplenomegaly, Recurrent urinary ... |
ORPHA:731 |
| Norrie Disease |
|
Cataract, Retinal detachment, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corn... |
OMIM:310600 |
| Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Nephrocalcinosis, Enlarged kidney, Anemia, Renal Fanconi syndrome, Rena... |
OMIM:276700 |
| Posterior Polymorphous Corneal Dystrophy |
|
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... |
ORPHA:98973 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Immunodeficiency 76 |
|
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... |
OMIM:614470 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy |
OMIM:609141 |
| Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
| Coproporphyria, Hereditary |
|
Jaundice, Increased urinary porphobilinogen, Hepatomegaly, Elevated urinary delta-aminolevulinic ... |
OMIM:121300 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... |
OMIM:615559 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Abnormal liver lobulation, Cystic renal d... |
OMIM:608022 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Chorioretinal coloboma, Corneal opacity, Optic disc coloboma, Vesicoureteral... |
OMIM:120200 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
| Familial Dysautonomia |
|
Abnormality of the peritoneum, Abnormality of the kidney, Glomerulopathy, Corneal erosion, Renal ... |
ORPHA:1764 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Microcoria, Congenital |
|
Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:79301 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Mydriasis, Megacystis, Fetal pyelectasis, Nephrolithiasis |
OMIM:619365 |
| Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites |
ORPHA:100025 |
| Alagille Syndrome |
|
Cholestasis, Abnormality of the ureter, Abnormal pupil morphology, Hepatomegaly, Renal hypoplasia... |
ORPHA:52 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology |
ORPHA:170 |
| Glycogen Storage Disease Ia |
|
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... |
OMIM:232200 |
| H Syndrome |
|
Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Enlarged kidney, Microcytic anemia, Hi... |
ORPHA:168569 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| X-Linked Recessive Ocular Albinism |
|
Astigmatism, Abnormal pupil morphology, Iris hypopigmentation, Ocular albinism |
ORPHA:54 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Harderoporphyria |
|
Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ... |
OMIM:618892 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Woolly Hair Nevus |
|
Persistent pupillary membrane, Heterochromia iridis |
ORPHA:79414 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Thrombocytopenia, Optic atrophy, Splenomegaly |
OMIM:615085 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... |
OMIM:616860 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Multilamellation of medullar... |
OMIM:614377 |
| Spherocytosis, Type 5 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:172 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heparan sulfate excretion in urine, Hepatosplenomegaly, Proteinuria, Leukopenia, Enlarged kidney,... |
ORPHA:505248 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly |
OMIM:619658 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of the urinary system, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Autoimmune thrombocyto... |
OMIM:619375 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
| Uveal Melanoma |
|
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Retinal detachment, Inferior l... |
ORPHA:39044 |
| Hemochromatosis, Type 2B |
|
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:613313 |
| Pierson Syndrome |
|
Cataract, Retinal hemorrhage, Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial scle... |
OMIM:609049 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Membranoprolifera... |
ORPHA:251004 |
| Congenital Rubella Syndrome |
|
Cataract, Jaundice, Anemia, Hepatomegaly, Abnormality of retinal pigmentation, Thrombocytopenia, ... |
ORPHA:290 |
| Mevalonic Aciduria |
|
Cataract, Splenomegaly |
ORPHA:29 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... |
OMIM:619849 |
| Lymphoid Interstitial Pneumonia |
|
Mediastinal lymphadenopathy, Keratoconjunctivitis sicca, Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Iris hypopigmentation, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, S... |
ORPHA:79477 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
| Hurler-Scheie Syndrome |
|
Corneal opacity, Abnormality of the tonsils, Hepatomegaly, Splenomegaly |
ORPHA:93476 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:613101 |
| Cholestasis-Lymphedema Syndrome |
|
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:214900 |
| Cholestasis-Lymphedema Syndrome |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
| Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Uveitis, Hepatomegaly, Lymphadenopathy, Pa... |
OMIM:615122 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Iris hypopigmentation, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Ascites |
ORPHA:834 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria |
OMIM:300216 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Hepatomegaly, Portal fibrosis, Splenomegaly, Acholic stools |
OMIM:619868 |
| Sialidosis Type 2 |
|
Nephropathy, Hepatomegaly, Corneal opacity, Splenomegaly, Ascites |
ORPHA:87876 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... |
ORPHA:766 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... |
ORPHA:2585 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Lymphadenopath... |
OMIM:300853 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... |
OMIM:616278 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Conjunctival icterus, Increased mean corpu... |
OMIM:194380 |
| Phacoanaphylactic Uveitis |
|
Panuveitis, Anterior chamber flare grade 1+, Abnormal pupil morphology, Posterior uveitis, Abnorm... |
ORPHA:209959 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Optic atrophy, Splenom... |
ORPHA:79312 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Anemia, Hepatomegaly, Optic disc pallor, Thrombocytopenia, Optic atrophy, Spleno... |
OMIM:611490 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... |
OMIM:618534 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
| Igg4-Related Kidney Disease |
|
Enlarged kidney, Urethritis, Albuminuria, Abnormality of mesentery morphology, Sclerosing cholang... |
ORPHA:449395 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Splenic cyst, Enlarged kidney |
OMIM:618188 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
| Aniridia 1 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Chorioretinal hypopigmentation, Corneal erosion, Ante... |
OMIM:106210 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Conjunctivitis, Splenomegaly |
OMIM:240500 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Cryohydrocytosis |
|
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
| Cold Agglutinin Disease |
|
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:56425 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... |
OMIM:616689 |
| Short Syndrome |
|
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hypoplasia of the ... |
ORPHA:3163 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Cirrhos... |
OMIM:616828 |
| Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Cataract, Proteinuria, Bone-marrow foam cells, Hepatomegaly, Urinary excr... |
OMIM:256550 |
| Coach Syndrome 1 |
|
Stage 5 chronic kidney disease, Abnormal abdomen morphology, Renal cyst, Unilateral renal agenesi... |
OMIM:216360 |
| Cholesteryl Ester Storage Disease |
|
Jaundice, Hepatomegaly, Splenomegaly, Cirrhosis |
ORPHA:75234 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatom... |
OMIM:618495 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Splenomegaly, Cirrhosis |
OMIM:613490 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... |
OMIM:209950 |
| Adams-Oliver Syndrome 6 |
|
Portal hypertension, Hepatic fibrosis, Splenomegaly, Renal hypoplasia |
OMIM:616589 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Ectopia pupillae, Abnormally prominent line of Schwalbe, Polycoria, Megalocornea, Hypoplasia of t... |
OMIM:180500 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... |
OMIM:235700 |
| Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... |
OMIM:617394 |
| Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612126 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Cataract, Bifid ureter, Enlarged kidney, Chronic neutropenia, Astigmatism, Transient neutropenia,... |
ORPHA:500095 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Muckle-Wells Syndrome |
|
Anemia, Renal amyloidosis, Uveitis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Optic atrophy,... |
ORPHA:575 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
| Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
| Denys-Drash Syndrome |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... |
OMIM:194080 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hepatitis, Pancytopenia, Splenomegaly |
OMIM:300635 |
| Spherocytosis, Type 4 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
| Stormorken Syndrome |
|
Hypoplastic spleen, Asplenia, Anemia, Thrombocytopenia, Hematuria, Howell-Jolly bodies |
OMIM:185070 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hepatic steatosis |
OMIM:612526 |
| Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... |
ORPHA:98848 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Ectopia pupillae, Sclerocornea, Coloboma, Microcornea, Hypospadias |
OMIM:615877 |
| Schnitzler Syndrome |
|
Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... |
ORPHA:3203 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... |
OMIM:602347 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:158029 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
| Cryoglobulinemic Vasculitis |
|
Proteinuria, Glomerulopathy, Abnormality of the liver, Viral hepatitis, Renal insufficiency, Kera... |
ORPHA:91138 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... |
OMIM:619463 |
| Spherocytosis, Type 1 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly |
OMIM:182900 |
| Duane Retraction Syndrome |
|
Central heterochromia, Iris coloboma, Ectopic kidney, Hypoplastic iris stroma, Abnormal pupil mor... |
ORPHA:233 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Hepatocellular carcinoma, Proteinuria, Stage 5 chronic kid... |
ORPHA:79259 |
| Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Hepatoblastoma, Nephrolith... |
OMIM:130650 |
| Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
| Griscelli Syndrome |
|
Jaundice, Iris hypopigmentation, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellular... |
ORPHA:381 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
| Elliptocytosis 1 |
|
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
| Hec Syndrome |
|
Developmental cataract, Abnormal pupil morphology |
ORPHA:2119 |
| Spherocytosis, Type 2 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly |
OMIM:616649 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Cholestasis, Hepatic fibrosis, Hepatomegaly, Nephronophthisis, Retinal de... |
OMIM:615630 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, Abn... |
OMIM:150550 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Elevated hepatic iron conce... |
OMIM:615234 |
| Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
| Mucolipidosis Ii Alpha/Beta |
|
Mucopolysacchariduria, Enlarged kidney, Megalocornea, Hepatomegaly, Opacification of the corneal ... |
OMIM:252500 |
| Beckwith-Wiedemann Syndrome |
|
Polycythemia, Enlarged kidney, Choroideremia, Congenital megaureter, Multiple renal cysts, Nephro... |
ORPHA:116 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Sickle Cell Disease |
|
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ... |
OMIM:603903 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231000 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Abnormal renal physiology, Hemophagocytosis, Anemia... |
ORPHA:158057 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... |
OMIM:613470 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... |
OMIM:615387 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Splenomegaly, Anemia |
OMIM:618107 |
| Meacham Syndrome |
|
Horseshoe kidney, Accessory spleen, Enlarged kidney |
OMIM:608978 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... |
OMIM:266200 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:163596 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
| Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Cholel... |
ORPHA:848 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... |
OMIM:601847 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Mydriasis, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, ... |
OMIM:259720 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:133100 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney |
OMIM:613091 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... |
OMIM:602482 |
| Knobloch Syndrome 1 |
|
Hydronephrosis, Renal duplication, Bifid ureter, Peripapillary atrophy, Cortical cataract, Duplic... |
OMIM:267750 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... |
ORPHA:507 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Asplenia, Enlarged kidney, Horseshoe kidney, Hepatomegaly, Polysplenia, Biliary atresia, Cardiome... |
OMIM:306955 |
| Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Hemolytic anemia |
ORPHA:98375 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
| Alg9-Cdg |
|
Hydronephrosis, Enlarged kidney, Hypoplasia of the bladder, Abnormal renal artery morphology, Hep... |
ORPHA:79328 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Exocrine pancreatic insuff... |
OMIM:612714 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Recurrent tonsillitis, Impaired oxidative burst, Hemolytic anemia, Lymphadeni... |
OMIM:618935 |
| Multiple Sulfatase Deficiency |
|
Cataract, Mucopolysacchariduria, Hepatomegaly, Abnormality of retinal pigmentation, Corneal opaci... |
ORPHA:585 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Reticulocytosis, Leukocytosis, Heinz ... |
OMIM:300908 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... |
ORPHA:3226 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Fulminant hepatitis, Hepatomegaly, Thrombocytopenia, Lymphaden... |
OMIM:308240 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Macular atrophy, Retinal atrophy, Abnormality of retinal pigmentation, Lens sub... |
ORPHA:85167 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Microphallus, Enlarged kidney, Hypospadias |
OMIM:612651 |
| Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... |
OMIM:185000 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Enuresis, Anisocoria |
ORPHA:289483 |
| Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... |
ORPHA:824 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Retinal detachment, Leukocoria |
ORPHA:2714 |
| Wolman Disease |
|
Bone-marrow foam cells, Anemia, Hepatomegaly, Splenomegaly, Ascites |
ORPHA:75233 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Micropenis, Hemolytic anemia, Anemia, Reduced ... |
OMIM:613673 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... |
OMIM:226990 |
| Hereditary Orotic Aciduria |
|
Oroticaciduria, Anemia, Abnormality of the ureter, Aminoaciduria, Splenomegaly, Orotic acid cryst... |
ORPHA:30 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... |
OMIM:613011 |
| Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Hypoplastic spleen, Horseshoe kidney, Multilobulated spleen, Renal malrotation, P... |
OMIM:601186 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomegaly, Enlarged kidney, Ascites |
OMIM:261740 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Uveitis, Autoimmune hemolytic anemia, Hepatomegaly, Keratoconjunctivitis sicca... |
OMIM:617388 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Jaundice, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis |
OMIM:235555 |
| Scheie Syndrome |
|
Mucopolysacchariduria, Corneal opacity, Hepatomegaly, Splenomegaly |
ORPHA:93474 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... |
OMIM:211600 |
| Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
| Glycogen Storage Disease Ixc |
|
Bile duct proliferation, Hepatomegaly, Cirrhosis, Splenomegaly, Increased hepatic glycogen content |
OMIM:613027 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... |
OMIM:301078 |
| Joubert Syndrome With Hepatic Defect |
|
Iris coloboma, Neoplasm of the liver, Renal insufficiency, Congenital hepatic fibrosis, Nephropat... |
ORPHA:1454 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ... |
ORPHA:231222 |
| Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hepatic bridging fibrosis, Hepati... |
OMIM:278000 |
| Pearson Syndrome |
|
Pigmentary retinopathy, Hepatomegaly, Lacticaciduria, Proteinuria, Reticulocytosis, Abnormality o... |
ORPHA:699 |
| Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Recurrent urinary tract... |
OMIM:619802 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... |
OMIM:602450 |
| Distal Deletion 6P |
|
Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia... |
ORPHA:96125 |
| Gaucher Disease, Type I |
|
Macular atrophy, Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Pancytopenia, Splenomegaly |
OMIM:230800 |
| Wilson Disease |
|
Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Cirrhosis, Hepatitis, Thrombocytopenia, Hepatic ... |
ORPHA:905 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Proximal renal tubular acidosis, Cataract, Proteinuria, Chorioretinal dysplasia, Glomerulopathy, ... |
ORPHA:534 |
| Caroli Disease |
|
Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho... |
ORPHA:53035 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypoplastic spleen, Leukopenia, Microphallus, Anemia, Lymphop... |
OMIM:617053 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Hypoplasia of the iris, Thrombocytopenia, Lymphadenopathy, Spleno... |
ORPHA:169090 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... |
OMIM:224120 |
| Revesz Syndrome |
|
Megalocornea, Bone marrow hypocellularity, Aplastic anemia, Leukocoria |
OMIM:268130 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... |
ORPHA:100026 |
| Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Lymphadenopathy, Splenomegaly |
ORPHA:83317 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Omenn Syndrome |
|
Leukocytosis, Anemia, Hepatomegaly, Abnormal lymphocyte morphology, Nephrotic syndrome, Eosinophi... |
ORPHA:39041 |
| Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Retinal detachment, Ascites, Multicystic kidney dysplasia, L... |
ORPHA:1556 |
| Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Uveitis, Hepatomegaly, Splenomegaly |
OMIM:612387 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosis, Giant cell hepatitis, Splenomegaly, ... |
OMIM:607765 |
| Iatrogenic Botulism |
|
Mydriasis, Urinary retention |
ORPHA:254509 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Astigmatism, Optic atrophy, Ectopia pupillae |
OMIM:618727 |
| Wound Botulism |
|
Mydriasis, Urinary retention |
ORPHA:178475 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Spleno... |
ORPHA:90033 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Peritonitis, Mydriasis, Megacystis, Pyelonephritis, Renal cortical hyperechogenicity, Anuria, Fet... |
OMIM:619351 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly |
OMIM:619183 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
| Budd-Chiari Syndrome |
|
Peritonitis, Jaundice, Hepatomegaly, Cirrhosis, Portal hypertension, Cholecystitis, Splenomegaly,... |
ORPHA:131 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Hepatic bridging fibrosis, Bile duct proli... |
OMIM:613812 |
| Inhalational Botulism |
|
Mydriasis, Urinary retention |
ORPHA:254504 |
| Omenn Syndrome |
|
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... |
OMIM:603554 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Hepatic fibrosis, He... |
OMIM:610199 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome... |
ORPHA:86843 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Polycystic kidney dysplasia, Jaundice, Polycythemia, Enlarged kidney, ... |
OMIM:300855 |
| Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Micropenis, Enlarged kidney, Patent urachus, Hepatopulmonary fusion, Acc... |
OMIM:618280 |
| Chediak-Higashi Syndrome |
|
Giant neutrophil granules, Jaundice, Iris hypopigmentation, Leukopenia, Hemophagocytosis, Anemia,... |
OMIM:214500 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... |
OMIM:616005 |
| Gaucher Disease Type 1 |
|
Proteinuria, Leukopenia, Biliary tract obstruction, Anemia, Hepatomegaly, Cirrhosis, Thrombocytop... |
ORPHA:77259 |
| Retinoblastoma |
|
Subretinal pigment epithelium hemorrhage, Leukemia, Uveitis, Retinal calcification, Abnormality o... |
ORPHA:790 |
| Leprechaunism |
|
Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Enlarged ovaries, Hypercalciuria, Long penis |
ORPHA:508 |
| Multiple Sulfatase Deficiency |
|
Mucopolysacchariduria, Hepatomegaly, Retinal degeneration, Corneal opacity, Splenomegaly |
OMIM:272200 |
| Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enuresis nocturna, Astigmatism, Enlarged kidney |
OMIM:615873 |
| Scalp-Ear-Nipple Syndrome |
|
Cataract, Iris coloboma, Pyelonephritis, Renal insufficiency, Unilateral renal agenesis, Anisocor... |
OMIM:181270 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly |
OMIM:618641 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Splenomegaly, Renal hypoplasia |
OMIM:612918 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Cataract, Hydronephrosis, Nephrocalcinosis, Renal artery stenosis, Aminoaciduria, Optic atrophy, ... |
OMIM:617913 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Lymphadenopa... |
OMIM:616100 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Persistent pupillary membrane, Cataract, Microcornea |
OMIM:257850 |
| Botulism |
|
Mydriasis, Urinary retention |
ORPHA:1267 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Ectopia pupillae, Aplasia of the thymus, T lymphocytopenia |
OMIM:618223 |
| Hereditary Elliptocytosis |
|
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... |
ORPHA:288 |
| Foodborne Botulism |
|
Mydriasis, Urinary retention |
ORPHA:228371 |
| Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly |
OMIM:207750 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Persistent pupillary membrane, Cataract, Peters anomaly, Buphthalmos |
OMIM:613150 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hydronephrosis, Enlarged kidney, Renal cyst, Duplication of renal pelvis, Pancreatic islet-cell h... |
OMIM:312870 |
| Norrie Disease |
|
Cataract, Anterior chamber synechiae, Ectopia lentis, Abnormal pupil morphology, Retinal detachme... |
ORPHA:649 |
| Retinoblastoma |
|
Leukemia, Retinal calcification, Leukocoria |
OMIM:180200 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Optic atrophy |
OMIM:231550 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Sideroblastic anemia, B lymphocytopenia, Aminoaciduria, Hypochromic microcytic ... |
OMIM:616084 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Por... |
OMIM:607626 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Hydronephrosis, Vesicoureteral reflux, Micropenis, Anisocoria, Pelvic kidney |
OMIM:618653 |
| Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Renal angiomyolipoma, Lymphadenitis, Optic disc pallor, Lymphad... |
OMIM:260920 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Opacification of the corneal stroma, Cardiomegaly, Splenomegaly |
OMIM:231005 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Nephrocalcinosis, Splenomegaly |
ORPHA:53715 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ectopia pupillae, Retinal hemorrhage, Peripapillary atrophy, Hemolytic anemia, Astigmatism, Hypop... |
OMIM:175780 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract, Jaundice, Hemolytic anemia, Hepatomegaly, Stomatocytosis, Nuclear cataract, Splenomegaly |
OMIM:608885 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Reticulocytosis, Anemia, Giant platelets, Stomatocytosis, Thrombocytop... |
OMIM:210250 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Hereditary Spherocytosis |
|
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... |
ORPHA:822 |
| Trichinellosis |
|
Abnormal uvea morphology, Conjunctival hyperemia, Anisocoria, Conjunctivitis, Retinal hemorrhage |
ORPHA:863 |
| Hyperparathyroidism, Neonatal Severe |
|
Anemia, Hepatomegaly, Hypercalciuria, Aminoaciduria, Polyuria, Hyperphosphaturia, Splenomegaly |
OMIM:239200 |
| Biotinidase Deficiency |
|
Hepatomegaly, Optic atrophy, Conjunctivitis, Splenomegaly, Organic aciduria |
OMIM:253260 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules |
OMIM:139090 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Hepatomegaly, Lymphopenia, Thrombocytopenia, Lymphadenopathy, Conjunctivitis, Splenomegaly |
OMIM:617591 |
| Glycogen Storage Disease Xii |
|
Jaundice, Normocytic anemia, Anemia, Hepatomegaly, Cholecystitis, Normochromic anemia, Nonspheroc... |
OMIM:611881 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid ... |
OMIM:614643 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Renal duplication, Asplenia, Duplication of renal pelvis, Pelvic kidney, Multicystic kidney dyspl... |
ORPHA:261552 |
| Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly |
OMIM:238600 |
| Isolated Biliary Atresia |
|
Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Prolonged neon... |
ORPHA:30391 |
| Juvenile Glaucoma |
|
Temporal optic disc pallor, Optic neuropathy, Abnormal anterior chamber morphology, Increased cup... |
ORPHA:98977 |
| Serotonin Syndrome |
|
Mydriasis, Acute kidney injury |
ORPHA:43116 |
| Hardikar Syndrome |
|
Cholestasis, Hydroureter, Pigmentary retinopathy, Hepatomegaly, Prolonged neonatal jaundice, Intr... |
OMIM:301068 |
| Wolf-Hirschhorn Syndrome |
|
Biliary tract abnormality, Ectopia pupillae, Iris coloboma, Accessory spleen, Hypospadias, Rieger... |
OMIM:194190 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... |
OMIM:233710 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Stomatocytosis, Thrombocytopenia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
| Parenteral Nutrition-Associated Cholestasis |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Portal hypertension, Hepatic steatosis, Bili... |
ORPHA:567983 |
| Cystinosis, Nephropathic |
|
Pigmentary retinopathy, Hepatomegaly, Proteinuria, Renal Fanconi syndrome, Nephrolithiasis, Splen... |
OMIM:219800 |
| Porphyria, Congenital Erythropoietic |
|
Jaundice, Pink urine, Red urine, Hemolytic anemia, Corneal scarring, Hepatomegaly, Thrombocytopen... |
OMIM:263700 |
| Infant Botulism |
|
Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... |
OMIM:233690 |
| Hyperlipoproteinemia, Type Id |
|
Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly |
OMIM:615947 |
| Multiple Myeloma |
|
Acute kidney injury, Anemia, Nephropathy, Nephrotic syndrome, Abnormality of the bladder, Lymphad... |
ORPHA:29073 |
| Atelis Syndrome 2 |
|
Developmental cataract, Remnants of the hyaloid vascular system, Thrombocytopenia, Anemia |
OMIM:620185 |
| Familial Mediterranean Fever |
|
Peritonitis, Leukocytosis, Stage 5 chronic kidney disease, Renal amyloidosis, Hepatomegaly, Nephr... |
OMIM:249100 |
| X-Linked Lymphoproliferative Disease |
|
