| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly |
OMIM:206400 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Trimethylaminuria |
|
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... |
OMIM:615234 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency |
ORPHA:100025 |
| Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Ovarian Dysgenesis 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... |
ORPHA:457083 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... |
ORPHA:100024 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
| Whim Syndrome 1 |
|
Neutropenia, Abnormal morphology of female internal genitalia, Abnormality of female external gen... |
OMIM:193670 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
| Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... |
OMIM:612965 |
| Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... |
OMIM:616217 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Hypogonadism |
OMIM:613313 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria |
OMIM:105200 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney dysplasia, Vesico... |
OMIM:617805 |
| Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| 46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... |
OMIM:273250 |
| Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... |
OMIM:617514 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Hypoplasia of penis |
ORPHA:1046 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube, Unilatera... |
OMIM:158330 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
| Leydig Cell Hypoplasia |
|
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... |
ORPHA:755 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... |
ORPHA:54251 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... |
OMIM:150550 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
| Amed Syndrome, Digenic |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Thrombocytopenia, Hypopl... |
OMIM:619151 |
| Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... |
OMIM:614837 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Hepatomegaly, Splenomegaly |
OMIM:608540 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
| Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Aplasia of the uterus, Renal hypoplasia, Anteriorly displaced urethral meatus, ... |
OMIM:266810 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... |
OMIM:618892 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:612964 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Abnormal renal physiology, A... |
ORPHA:158057 |
| Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Cirrhosis |
OMIM:602390 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithias... |
ORPHA:848 |
| Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... |
ORPHA:79301 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... |
OMIM:308240 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
| Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
| Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:619658 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
| Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
| Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
| 46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
| Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
| Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
| Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... |
ORPHA:90797 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Bicornuate uterus, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus |
OMIM:601076 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... |
OMIM:616278 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
| Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Absent testis, Urogenital sinus anomaly, Abnormal vas d... |
ORPHA:325124 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... |
ORPHA:1414 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Renal insufficiency |
ORPHA:79312 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... |
OMIM:615122 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Horseshoe kidney, Aplasia of the uterus, Hypoplasia of the vagina, Unilateral renal agenesis, Ect... |
ORPHA:3109 |
| Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia |
ORPHA:56425 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepa... |
OMIM:618935 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... |
OMIM:300908 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... |
OMIM:194380 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:664 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... |
OMIM:614841 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Neutro... |
OMIM:619644 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
| 46,Xx Sex Reversal 2 |
|
True hermaphroditism, Bifid scrotum, Sex reversal, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... |
OMIM:617394 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... |
OMIM:616828 |
| Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency, ... |
ORPHA:108 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Proximal renal tubular ac... |
OMIM:146255 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
| Primary Myelofibrosis |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
| Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
| Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... |
OMIM:612541 |
| Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... |
ORPHA:231222 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... |
OMIM:619463 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Thrombocytopenia, Nephrotic syndrome, Splenomegaly |
OMIM:615846 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
| Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:75234 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... |
OMIM:602347 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis |
OMIM:616738 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:612310 |
| Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Hepatomegaly, Decreased testicular size, Splenomegaly |
OMIM:201100 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619203 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
| Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619665 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... |
OMIM:618986 |
| Lumbar Syndrome |
|
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... |
ORPHA:83628 |
| Griscelli Syndrome |
|
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... |
ORPHA:381 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Ascites, Hepatocellular carcinoma, Azoospermia, Hypogonadotropi... |
OMIM:235200 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialy... |
OMIM:256550 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... |
OMIM:613011 |
| Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... |
OMIM:603903 |
| Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Clitoral... |
OMIM:606003 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
| Cardiac-Urogenital Syndrome |
|
Patent urachus, Aplasia of the uterus, Bifid scrotum, Accessory spleen, Micropenis, Hepatopulmona... |
OMIM:618280 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Crossed fused renal ectopia, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
| Adult-Onset Still Disease |
|
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... |
ORPHA:829 |
| Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
| Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... |
ORPHA:39041 |
| Poikiloderma With Neutropenia |
|
Neutropenia, Splenomegaly |
OMIM:604173 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:617243 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ascites, Splenomegaly, Abnormality of t... |
ORPHA:1655 |
| Wolman Disease |
|
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly |
ORPHA:75233 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... |
ORPHA:158061 |
| Immunodeficiency 54 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly |
OMIM:609981 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
| Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly |
OMIM:618398 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... |
OMIM:612714 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... |
OMIM:308230 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice |
OMIM:613812 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Renal cyst, Intrahepatic biliary dysgenesis, Splenomegaly, Clitoral hypertrophy, He... |
OMIM:614866 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
| Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
| Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... |
ORPHA:288 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hydronephrosis, Aplasia of the uterus, Uterus didelphys, Unilateral renal agenesis, Vaginal atres... |
ORPHA:2237 |
| Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
| Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly |
ORPHA:391 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Lipogranulomatosis, Splenomegaly |
OMIM:228000 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Aplastic anemia, Pancy... |
ORPHA:398124 |
| Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
| Caroli Disease |
|
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... |
OMIM:251880 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... |
OMIM:616100 |
| Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... |
ORPHA:1451 |
| Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... |
OMIM:214500 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly |
OMIM:608885 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Ja... |
ORPHA:90033 |
| Microphthalmia, Syndromic 9 |
|
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Pelvic kidney, Bicornuate uterus, Multilobula... |
OMIM:601186 |
| Felty Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellu... |
ORPHA:47612 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Absence of renal cortico... |
OMIM:259720 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis |
OMIM:613027 |
| Coach Syndrome 1 |
|
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cysts, Renal cys... |
OMIM:216360 |
| Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Splenomegaly, Abnormality of the liver, Vir... |
ORPHA:91138 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... |
OMIM:102700 |
| Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... |
OMIM:210250 |
| Perrault Syndrome 4 |
|
Bicornuate uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the ut... |
OMIM:615300 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... |
ORPHA:90793 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Atretic vas deferens, Pancreatic hypoplasia, Biliary tract abnorma... |
OMIM:137920 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, ... |
OMIM:257200 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Renal t... |
ORPHA:370 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, Anemia, Splenomegaly, Ci... |
ORPHA:77259 |
| Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:168558 |
| Primary Lipodystrophy |
|
Polycystic ovaries, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
ORPHA:90970 |
| Oeis Complex |
|
Hydronephrosis, Bifid uterus, Vesicovaginal fistula, Pelvic kidney, Labial hypoplasia, Rectovagin... |
OMIM:258040 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:235555 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal renal physiology, Anemia, Splenomegaly, Chol... |
ORPHA:540 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:619183 |
| Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Thr... |
ORPHA:905 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertension, ... |
ORPHA:131 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:289548 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Ascites, Splenomegaly |
ORPHA:2414 |
| Sézary Syndrome |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Intrahepatic cholest... |
OMIM:607765 |
| Hereditary Orotic Aciduria |
|
Abnormality of the ureter, Oroticaciduria, Anemia, Orotic acid crystalluria, Splenomegaly, Aminoa... |
ORPHA:30 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Hepatic steatosis |
ORPHA:2348 |
| Relapsing Fever |
|
Leukocytosis, Leukopenia, Hematuria, Anemia, Neutrophilia, Acute kidney injury, Thrombocytopenia,... |
ORPHA:91547 |
| X-Linked Lymphoproliferative Disease |
|
Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymphocytosis, Pa... |
ORPHA:2442 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... |
ORPHA:464329 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... |
ORPHA:822 |
| Hyper-Igd Syndrome |
|
Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Ren... |
OMIM:260920 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Renal tubular acidosis, Polycysti... |
ORPHA:264580 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Horseshoe kidney, Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ascites, Splenomegaly, Thyroid lymphang... |
OMIM:235255 |
| Familial Mediterranean Fever |
|
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Peritonitis, Stage 5 chronic kidney disease, Sple... |
OMIM:249100 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly |
OMIM:252900 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly |
OMIM:252920 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:618641 |
| Essential Thrombocythemia |
|
Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Male hypogonadis... |
ORPHA:432 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, Renal tubular acidosis, ... |
ORPHA:79240 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233710 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess |
ORPHA:379 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus |
ORPHA:247768 |
| Legionnaires Disease |
|
Lymphadenopathy, Hematuria, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, L... |
ORPHA:549 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Horseshoe kidney, Leukocytosis, Aplasia of the uterus, Pancreatic cysts, Anemia, Hepatosplenomega... |
OMIM:274000 |
| Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... |
ORPHA:2137 |
| Majeed Syndrome |
|
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... |
ORPHA:77297 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ly... |
OMIM:614700 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... |
OMIM:202010 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... |
OMIM:610199 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persiste... |
ORPHA:231226 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:617388 |
| Chromosome 17Q12 Deletion Syndrome |
|
Renal hypoplasia, Hydronephrosis, Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina... |
OMIM:614527 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... |
OMIM:615512 |
| 8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Spherocytosis, Hyp... |
ORPHA:251066 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:306400 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233690 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasi... |
OMIM:613179 |
| Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Hydronephrosis, Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidis... |
ORPHA:94095 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopeni... |
ORPHA:158048 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellula... |
ORPHA:231214 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
ORPHA:169090 |
| Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... |
OMIM:257220 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy, Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia... |
OMIM:603553 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinosis, Sideroblastic... |
OMIM:616084 |
| Psoriasis 14, Pustular |
|
Cholangitis, Leukocytosis, Neutrophilia |
OMIM:614204 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hepatomegaly, Abscess, Neutrophilia, Splenomegaly |
OMIM:612852 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Hydronephrosis, Aplasia of the uterus, Urethral atresia, Absent external genitalia, Aplasia of th... |
OMIM:271520 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly |
OMIM:139090 |
| Kennerknecht Syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... |
ORPHA:90796 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytos... |
OMIM:267700 |
| Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... |
OMIM:607625 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Pancreatic hypoplasia, Azoospermia, Lymphadenopathy, Retroperitoneal fibrosis, Card... |
OMIM:602782 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Sple... |
OMIM:608233 |
| Scheie Syndrome |
|
Hepatomegaly, Mucopolysacchariduria, Splenomegaly |
ORPHA:93474 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horseshoe kidney, Hepatomegaly, Splenomegaly, Vaginal atresia, Hydrometrocolpos |
OMIM:617088 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Neutropenia, Splenomegaly |
OMIM:617050 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
| Exstrophy-Epispadias Complex |
|
Horseshoe kidney, Renal hypoplasia, Abnormality of the ureter, Bifid scrotum, Bifid uterus, Absen... |
ORPHA:322 |
| Tyrosinemia, Type I |
|
Renal Fanconi syndrome, Hepatomegaly, Hepatocellular carcinoma, Nephrocalcinosis, Ascites, Glomer... |
OMIM:276700 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Elevated urinary epinep... |
ORPHA:90794 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Polycystic ovaries, Nephrolithiasis, Labial hypertrophy, Splenomegaly, Cirrhosis, H... |
OMIM:608594 |
| Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Hepatomegaly, Aminoaciduria, Anemia, Splenomegaly, Hypercalciuria, Polyuria |
OMIM:239200 |
| Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
| Adams-Oliver Syndrome 5 |
|
Right ventricular hypertrophy, Hypersplenism, Splenomegaly |
OMIM:616028 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Mastocytosis |
|
Hepatomegaly, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis |
ORPHA:98292 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Atretic gallbladder, Bile duct proliferation, Dark yellow urine, Sp... |
ORPHA:30391 |
| Popliteal Pterygium Syndrome |
|
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... |
OMIM:119500 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Splenomegaly, Nephrocalcinosis |
ORPHA:53715 |
| Immunodeficiency 47 |
|
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Splenomegaly, Ci... |
OMIM:300972 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Polycystic ovaries, Nephrolithiasis, Labial hypertrophy, Splenomegaly, Cirrhosis, H... |
OMIM:269700 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly |
ORPHA:33577 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... |
ORPHA:567983 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly |
OMIM:238600 |
| Dyskeratosis Congenita |
|
Hepatomegaly, Urethral stenosis, Abnormal morphology of female internal genitalia, Neoplasm of th... |
ORPHA:1775 |
| Meckel Syndrome, Type 1 |
|
Abnormality of the ureter, Malformation of the hepatic ductal plate, Asplenia, Bile duct prolifer... |
OMIM:249000 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Leukopenia, Lymphadenopathy, Bone marrow hypocellular... |
OMIM:615688 |
| Gaucher Disease, Type Iiic |
|
Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:231005 |
| Familial Mediterranean Fever |
|
Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Ascites, Peritonitis, Pancreatitis, Spleno... |
ORPHA:342 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatomegaly, Macronodular cirrhosis, Lymphadenopathy, Anemia, ... |
OMIM:619418 |
| Pontocerebellar Hypoplasia Type 7 |
|
Aplasia of the uterus, Absent penis, Clitoral hypertrophy, Abnormal scrotal rugation, Micropenis,... |
ORPHA:284339 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Woodhouse-Sakati Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Micropenis, Premature ovarian in... |
OMIM:241080 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Neutrophilia, Leukopenia |
ORPHA:36238 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Leukocytosis, Thrombocytosis, Portal fibrosis, Thrombocytopenia, Anemia, Pancreatiti... |
ORPHA:3260 |
| Common Variable Immunodeficiency |
|
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia... |
ORPHA:1572 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly |
ORPHA:71493 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Hydronephrosis, Abnormal vagina morphology, Bifid uterus, Accessory spleen |
OMIM:236680 |
| Brucellosis |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Lung abscess, Leukopenia, Lymphadenopathy, Epididymit... |
ORPHA:1304 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Hepatomegaly, Increased mean platelet volume, Thrombocytosis, Hepatic fibrosis,... |
ORPHA:84064 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Oroticaciduria, Leukopenia, Anemia, Stage 5 chronic kidney disease, Pancreatitis, S... |
OMIM:222700 |
| Pearson Syndrome |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Lacticaciduria, Macronodular cirrhosis, Renal cyst, ... |
ORPHA:699 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis |
ORPHA:457284 |
| Primary Sclerosing Cholangitis |
|
Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... |
ORPHA:171 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORP |
