Thrombocythemia 1 |
|
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... |
OMIM:187950 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... |
OMIM:263300 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Colitis |
OMIM:604416 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... |
OMIM:619281 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... |
ORPHA:86841 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Bicornuate uterus, Cryptorchidism, Microphthalmia |
OMIM:615524 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... |
ORPHA:2978 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
Matthew-Wood Syndrome |
|
Microphthalmia, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophtha... |
ORPHA:2470 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... |
OMIM:617780 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cryptorchidism, Cleft palate, Microphthalmia |
OMIM:164180 |
Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Anophthalmia, Microphthalmia |
OMIM:600776 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervic... |
OMIM:614034 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... |
OMIM:261000 |
Anencephaly 2 |
|
Median cleft palate, Anophthalmia, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... |
OMIM:618495 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... |
ORPHA:100025 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Anteriorly placed anus, Anal stenosis, Microphthalmia |
OMIM:248450 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Abnormal intestine morphology, Hepatomegaly, Ascites, Iron deficiency anemia, Mal... |
OMIM:226300 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Serrated Polyposis Syndrome |
|
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... |
ORPHA:157798 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft palate, Microphthalmia |
OMIM:613885 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... |
OMIM:615234 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Microphthalmia, Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Cryptor... |
ORPHA:77298 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly |
OMIM:617068 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Microgastria-Limb Reduction Defects Association |
|
Microgastria, Aganglionic megacolon, Asplenia, Anophthalmia, Splenogonadal fusion, Intestinal mal... |
OMIM:156810 |
Microphthalmia, Syndromic 5 |
|
Cleft palate, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Micropenis, Ectopic posterior... |
OMIM:610125 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Ascites, Anemia, Gastric varix, Splenomeg... |
ORPHA:64743 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism |
ORPHA:281090 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Malabsorption, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Anteriorly placed anus, Anal stenosis, Microphthalmia |
ORPHA:2717 |
Trisomy 13 |
|
High, narrow palate, Cleft palate, Microphthalmia, Abnormal morphology of female internal genital... |
ORPHA:3378 |
Hydrolethalus |
|
Cleft palate, Microphthalmia, Anophthalmia, Bifid uvula, Abnormal fallopian tube morphology, Cryp... |
ORPHA:2189 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... |
OMIM:613101 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... |
OMIM:224120 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... |
ORPHA:79301 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... |
ORPHA:766 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis |
OMIM:619164 |
Microphthalmia, Syndromic 3 |
|
Hypospadias, Microphthalmia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia,... |
OMIM:206900 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... |
OMIM:603552 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Paratracheal lymphadenopathy, Anemia, Lymphopenia, Follicular hyperpl... |
OMIM:615934 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Perineal fistula, Abnormality of the spleen, Hepatomegaly, Microphthalmia, Rectovag... |
ORPHA:2538 |
Syndromic Diarrhea |
|
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... |
ORPHA:84064 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... |
OMIM:619375 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Esophageal varix, Leukopenia, Lymphadenopathy, Anemia... |
OMIM:615688 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cryptorchidism, High palate, Microphthalmia |
ORPHA:139471 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... |
OMIM:619463 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:614480 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, High palate, Hypoplasia of penis |
ORPHA:66625 |
Poems Syndrome |
|
Thrombocytosis, Ascites, Polycythemia, Lymphadenopathy, Hypogonadism, Increased circulating prola... |
ORPHA:2905 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... |
OMIM:617514 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Idiopathic Hypereosinophilic Syndrome |
|
Leukocytosis, Dysphagia, Thrombocytosis, Cholangitis, Portal fibrosis, Chronic hepatitis, Anemia,... |
ORPHA:3260 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach |
OMIM:114500 |
Anophthalmia Plus Syndrome |
|
Bilateral cleft lip and palate, Anophthalmia, Cleft palate |
ORPHA:1104 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly |
ORPHA:664 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Hepatomegaly, Esophageal varix, Hemobilia, Ascites, Polycythemia, Hepatic necrosi... |
ORPHA:88673 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly |
ORPHA:71493 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Hypospadias, Microphthalmia, Precocious puberty, Anophthalmia |
OMIM:615877 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Hepatomegaly, Cryptorchidism, Male hypogonadism |
ORPHA:90322 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice |
OMIM:214900 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Premature ovarian insufficienc... |
OMIM:212065 |
Meckel Syndrome |
|
Cleft palate, True hermaphroditism, Pancreatic cysts, Asplenia, Microphthalmia, Congenital hepati... |
ORPHA:564 |
Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Villous atrophy, Hepat... |
OMIM:222470 |
Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Gastrointestinal hemorrhage, Autoimmune thrombocytope... |
ORPHA:324636 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Colitis, Hepatitis, Splenomegaly, Pancytopenia... |
OMIM:300635 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Hypogonadism |
OMIM:613313 |
Blackfan-Diamond Anemia |
|
Hypospadias, Thrombocytosis, High palate, Neutropenia, Elevated red cell adenosine deaminase leve... |
ORPHA:124 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... |
OMIM:616860 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cleft palate, Microphthalmia, Anophthalmia, External genital hypoplasia, Bifid uvula, Hypogonadis... |
ORPHA:2250 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... |
ORPHA:263665 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, High palate, Cleft palate, Microphthalmia |
OMIM:206920 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, I... |
OMIM:602347 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Celiac disease, Iron deficiency anemia, Steatorrhea |
OMIM:212750 |
Walker-Warburg Syndrome |
|
Cleft palate, Microphthalmia, Anophthalmia, Bifid uvula, Cryptorchidism, Hypoplasia of penis, Sub... |
ORPHA:899 |
Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithias... |
ORPHA:848 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bicornuate uterus, Bilateral microphthalmos, Multilobulated spleen, Cryptorchidism,... |
OMIM:601186 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... |
OMIM:300048 |
Brucellosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Epididymitis, Anemia, Sp... |
ORPHA:1304 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... |
ORPHA:131 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly |
ORPHA:42642 |
Trisomy 1Q |
|
Cleft palate, Anophthalmia, Small scrotum, Anal atresia, Ambiguous genitalia, Cryptorchidism |
ORPHA:261344 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hyp... |
OMIM:147250 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocytes, Anemia... |
ORPHA:20 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Splenomegaly, Abno... |
ORPHA:2585 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Esophageal atresia, Anal atresia, Abnormal fallopian tube morpholog... |
ORPHA:3412 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... |
ORPHA:158057 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Anemia, Cirrhosis, Hepatic steatosis, Cholestasis |
OMIM:615486 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Ménétrier Disease |
|
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... |
ORPHA:2494 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Hypochromic anemia, Eosinophilic infiltration of the esophagus, Per... |
OMIM:618213 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hepatomegaly, Thrombocytosis |
ORPHA:134 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Increased fecal coproporphyrin 3, Splenomegaly |
OMIM:121300 |
Wolman Disease |
|
Hepatomegaly, Esophageal varix, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Steatorrhea |
ORPHA:75233 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption,... |
ORPHA:2930 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Thrombocytope... |
ORPHA:290 |
Griscelli Syndrome |
|
Pyloric stenosis, Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypo... |
ORPHA:381 |
Omenn Syndrome |
|
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Ascites, Anemia, Splenomegaly, Hypoplasia of penis |
ORPHA:1046 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Dysphagia, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... |
OMIM:308240 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, High palate, Cleft palate, Neutropenia, Elevated red cell adenosine deaminase lev... |
OMIM:105650 |
Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Hepatomegaly, Dysphagia, Lymphadenopathy, Abnormal lymphocyte morphology,... |
ORPHA:100026 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Dysphagia, Splenomegaly |
ORPHA:77260 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Anemia, Splenomegaly, Reduced natural killer cell count, Enterocolitis, Pancytop... |
OMIM:616050 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Recurrent tonsillitis, Splenomegaly, Crohn's disease, Perianal ab... |
OMIM:618935 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:618892 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Intermittent thrombocyto... |
OMIM:150550 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Anophthalmia, Anemia, Male hypogonadism, Cryptorchidism |
ORPHA:90321 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... |
ORPHA:234 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Esophageal varix, Leukopenia, Hepatic fibrosis, Bon... |
OMIM:278000 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Crohn's disease, Autoimmune thrombocytopenia, Lympho... |
OMIM:616100 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Cirrhosis |
OMIM:602390 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency, Ane... |
OMIM:612714 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
Neuroleptic Malignant Syndrome |
|
Leukocytosis, Dysphagia, Thrombocytopenia, Thrombocytosis |
ORPHA:94093 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... |
ORPHA:1414 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... |
OMIM:616278 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Hyperparathyroidism, Splenomegaly |
OMIM:618107 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... |
OMIM:613011 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Holoprosencephaly |
|
Abnormality of the spleen, Microphthalmia, Hypoplasia of penis, Median cleft lip and palate, Anop... |
ORPHA:2162 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
Gastrointestinal Stromal Tumor |
|
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... |
ORPHA:44890 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice |
OMIM:619658 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... |
OMIM:613470 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... |
OMIM:300908 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... |
OMIM:615122 |
Fraser Syndrome |
|
Hypospadias, Abnormal vagina morphology, High palate, Microphthalmia, Ectopic anus, Urethral atre... |
ORPHA:2052 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Crohn's disease, Decreased basophil count, Decreased proportion of memory B cells, ... |
OMIM:618394 |
Holoprosencephaly 9 |
|
Bilateral cleft lip and palate, Cleft palate, Microphthalmia, Anophthalmia, Decreased response to... |
OMIM:610829 |
Cerebrooculonasal Syndrome |
|
High palate, Cleft palate, Anophthalmia, Narrow palate, Hypoplastic male external genitalia |
OMIM:605627 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom... |
ORPHA:288 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... |
ORPHA:1876 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Tracheo... |
ORPHA:379 |
Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615846 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, High, narrow palate, Cryptorchidism, Aniridia |
ORPHA:1101 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Hypoparathyroidism, Hepatocellular carcinoma, Erythroid hyperplasia, ... |
ORPHA:231222 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, High palate, Cleft palate, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the ... |
OMIM:612541 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... |
OMIM:210250 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, High palate, Splenomegaly, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Ascites, Hepatocellular carcinoma, Azoospermia, Hypogonadotropi... |
OMIM:235200 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Intrahepatic chole... |
OMIM:613812 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Congenital pyloric atresia |
ORPHA:2617 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Pyloric stenosis, Bilateral cryptorchidism, High palate |
ORPHA:314575 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Ascites, Splenomegaly, Abnormality of the ... |
ORPHA:1655 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypospadias, Abnormal penis morphology, Microphthalmia, Anophthalmia, Abnormality of the anus, Cl... |
ORPHA:2556 |
Bronchogenic Cyst |
|
Dysphagia, Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology |
ORPHA:2357 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Steatorrhea, Intrahe... |
OMIM:607765 |
Fibular Hemimelia |
|
Anophthalmia, Thrombocytopenia |
ORPHA:93323 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Thrombocytosis, Peritonitis, Polycythemia, Bone marrow hypocellularity, Vaginitis, ... |
ORPHA:2968 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Fraser Syndrome 1 |
|
Hypospadias, Cleft palate, Abnormality of the small intestine, Anophthalmia, Abnormality of the a... |
OMIM:219000 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Hepatomegaly, Decreased testicular size, Splenomegaly |
OMIM:201100 |
Harrod Syndrome |
|
Pyloric stenosis, High, narrow palate, Hypospadias, Aganglionic megacolon, High palate, External ... |
OMIM:601095 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Clitoral... |
OMIM:606003 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... |
OMIM:617394 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice |
ORPHA:79477 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Charge Syndrome |
|
Cleft palate, Duodenal atresia, Micropenis, Microphthalmia, Anophthalmia, Hypogonadotropic hypogo... |
OMIM:214800 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... |
OMIM:609981 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Intussusception, Duode... |
OMIM:174900 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
14Q22Q23 Microdeletion Syndrome |
|
Anophthalmia, Small scrotum, Anterior pituitary hypoplasia, Cryptorchidism, Optic nerve aplasia |
ORPHA:264200 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Steatorrhea, Intrahepatic cholestasis, Jaundice |
OMIM:235555 |
Scleroderma |
|
Abnormal large intestine morphology, Abnormality of the small intestine, Abnormal stomach morphol... |
ORPHA:801 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hypoplasia of the iris, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic ... |
ORPHA:169090 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... |
ORPHA:822 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Inflammation of the large intestine, Villous atrophy, Dec... |
OMIM:614700 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Charge Syndrome |
|
Cleft palate, Bifid scrotum, Microphthalmia, Abnormal morphology of female internal genitalia, La... |
ORPHA:138 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Panc... |
ORPHA:398124 |
Reynolds Syndrome |
|
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Ascites, Xerostomia, Cirrhosis, Gast... |
ORPHA:779 |
Caroli Disease |
|
Leukocytosis, Cholangitis, Hepatomegaly, Esophageal varix, Cholangiocarcinoma, Hepatic fibrosis, ... |
ORPHA:53035 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Gastroesophageal reflux, Ascites, Splenomegaly |
ORPHA:2414 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... |
OMIM:214500 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... |
ORPHA:158061 |
Essential Thrombocythemia |
|
Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Esophageal varix, Hepatic cysts, Splenomegaly, Portal hypertensio... |
OMIM:263200 |
Focal Dermal Hypoplasia |
|
Cleft palate, Hypoplastic nipples, Microphthalmia, Labial hypoplasia, Anophthalmia, Aniridia, Int... |
OMIM:305600 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Splenomegaly, Ci... |
OMIM:308230 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... |
OMIM:251880 |
Wilson Disease |
|
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Thr... |
ORPHA:905 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
Doors Syndrome |
|
Adrenal hyperplasia, Thrombocytosis, High palate, Cleft palate, Narrow palate, Ambiguous genitali... |
ORPHA:79500 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Buphthalmos, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cys... |
OMIM:610199 |
Marden-Walker Syndrome |
|
Pyloric stenosis, High, narrow palate, Hypospadias, High palate, Cleft palate, Microphthalmia, Mi... |
OMIM:248700 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypochromic microcytic anemia, Hepatocellular carcinoma, Hepatic fibrosis, Sp... |
ORPHA:231226 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Cleft palate, Ascites, Splenomegaly, Thyro... |
OMIM:235255 |
Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Neoplasm of the stomach, Adenomatous colonic polyposis, U... |
ORPHA:220460 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatocellu... |
ORPHA:231214 |
Hardikar Syndrome |
|
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy... |
OMIM:301068 |
Systemic Sclerosis |
|
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... |
ORPHA:90291 |
Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
Sickle Cell Anemia |
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Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Craniofacial Dyssynostosis With Short Stature |
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Pyloric stenosis, Cryptorchidism, Hypospadias |
OMIM:218350 |
Autoimmune Hepatitis |
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Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclerosing cholangitis, F... |
ORPHA:2137 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Pyloric stenosis, High palate, Cleft palate, Bifid uvula, Cryptorchidism, Precocious puberty |
ORPHA:96184 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly |
OMIM:618398 |
Craniofacial Microsomia |
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Anophthalmia, Cleft palate, Microphthalmia |
OMIM:164210 |
Felty Syndrome |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bone marrow h... |
ORPHA:47612 |
Familial Hemophagocytic Lymphohistiocytosis |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Cholestatic liver disease, Thro... |
ORPHA:540 |
Osteopetrosis, Autosomal Recessive 5 |
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Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoi... |
OMIM:259720 |
Cryoglobulinemic Vasculitis |
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Hepatomegaly, Gastrointestinal infarctions, Mediastinal lymphadenopathy, Splenomegaly, Abnormalit... |
ORPHA:91138 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis |
OMIM:613027 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Portal fibrosis, Hepatic fibrosis, Poly... |
ORPHA:370 |
Branchiooculofacial Syndrome |
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Pyloric stenosis, Hypospadias, Cleft palate, Ectopic thymus tissue, Microphthalmia, Anophthalmia,... |
OMIM:113620 |
Acute Panmyelosis With Myelofibrosis |
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Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Omenn Syndrome |
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Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... |
ORPHA:39041 |
Chromosome 13Q33-Q34 Deletion Syndrome |
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Pyloric stenosis, Hypospadias, High palate, Bifid scrotum, Microphthalmia, Anal atresia, Left ven... |
OMIM:619148 |
Autoimmune Lymphoproliferative Syndrome |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Hermansky-Pudlak Syndrome 2 |
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Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Sple... |
OMIM:608233 |
American Trypanosomiasis |
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Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Splenomegaly, Achalasia |
ORPHA:3386 |
Metachromatic Leukodystrophy |
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Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... |
ORPHA:512 |
Autoimmune Hemolytic Anemia |
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Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Mixed Connective Tissue Disease |
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Hepatomegaly, Mediastinal lymphadenopathy, Leukopenia, Xerostomia, Lymphadenopathy, Splenomegaly,... |
ORPHA:809 |
Gaucher Disease Type 1 |
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Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy... |
ORPHA:77259 |
Microphthalmia, Syndromic 6 |
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Hypospadias, High palate, Cleft palate, Bifid scrotum, Microphthalmia, Anophthalmia, Small scrotu... |
OMIM:607932 |
Joubert Syndrome 21 |
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Anophthalmia |
OMIM:615636 |
Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... |
OMIM:615512 |
Majeed Syndrome |
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Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Malabso... |
ORPHA:77297 |
Congenital Tracheal Stenosis |
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Fetal ascites, Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointe... |
ORPHA:141127 |
8P11.2 Deletion Syndrome |
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High palate, Hypoplasia of penis, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Spher... |
ORPHA:251066 |
Kaposiform Lymphangiomatosis |
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Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... |
ORPHA:464329 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Esophageal varix, Portal fibrosis, Hepatic fibrosis, Polycystic ovaries, Anemia, He... |
ORPHA:264580 |
Common Variable Immunodeficiency |
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Gastrointestinal stroma tumor, Lymphadenopathy, Splenomegaly, Anal atresia, Abnormality of the li... |
ORPHA:1572 |
Adams-Oliver Syndrome 5 |
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Right ventricular hypertrophy, Hypersplenism, Esophageal varix, Splenomegaly |
OMIM:616028 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Leukemia, Anophthalmia, Microphthalmia |
ORPHA:2526 |
Proboscis Lateralis |
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High palate, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia |
ORPHA:141099 |
Microphthalmia, Syndromic 2 |
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Hypospadias, Microphthalmia, Anophthalmia, Bifid uvula, Septate vagina, Cryptorchidism, Submucous... |
OMIM:300166 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... |
OMIM:102700 |
Systemic-Onset Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Immunodeficiency 36 |
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Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
X-Linked Lymphoproliferative Disease |
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Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Absent natural killer cells, ... |
ORPHA:2442 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatomegaly, Villous atrophy, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasi... |
ORPHA:567983 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia... |
OMIM:603553 |
Dyskeratosis Congenita |
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Hepatomegaly, Abnormal morphology of female internal genitalia, Urethral stenosis, Anemia, Malabs... |
ORPHA:1775 |
Autosomal Recessive Polycystic Kidney Disease |
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Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... |
ORPHA:731 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:619183 |
Jacobsen Syndrome |
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Pyloric stenosis, Hypospadias, Microphthalmia, Annular pancreas, Labial hypoplasia, Macular hypop... |
OMIM:147791 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Isolated Biliary Atresia |
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Hepatomegaly, Acholic stools, Atretic gallbladder, Bile duct proliferation, Splenomegaly, Cirrhos... |
ORPHA:30391 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233710 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Niemann-Pick Disease, Type C1 |
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Fetal ascites, Hepatomegaly, Dysphagia, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal ... |
OMIM:257220 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Abnormal intestine morphology, Neutropenia, Neutropenia in presence of anti-neutropil antibodies,... |
ORPHA:37042 |
Autoimmune Hemolytic Anemia, Warm Type |
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Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90033 |
Meckel Syndrome, Type 1 |
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Cleft palate, Malformation of the hepatic ductal plate, Microphthalmia, Asplenia, Bile duct proli... |
OMIM:249000 |
Microphthalmia With Limb Anomalies |
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High palate, Cleft palate, Microphthalmia, True anophthalmia, Cryptorchidism |
ORPHA:1106 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... |
OMIM:233690 |
Epidermolysis Bullosa Junctionalis With Pyloric Atresia |
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Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Pyloric stenosis, Hepatomegaly, Dysphagia, Splenomegaly, Hepatic steatosis, Ileus |
OMIM:613327 |
Niemann-Pick Disease, Type C2 |
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Fetal ascites, Hepatomegaly, Dysphagia, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal ... |
OMIM:607625 |
Ulnar-Mammary Syndrome |
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Pyloric stenosis, Hypoplastic nipples, Ectopic anus, Anal atresia, Abnormality of the uterus, Bre... |
ORPHA:3138 |
Microphthalmia, Syndromic 1 |
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Pyloric stenosis, High, narrow palate, Hypospadias, High palate, Rectal prolapse, Aganglionic meg... |
OMIM:309800 |
Hemophagocytic Syndrome Associated With An Infection |
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Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopeni... |
ORPHA:158048 |
Postaxial Acrofacial Dysostosis |
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Pyloric stenosis, Midgut malrotation, Cleft palate, Micropenis, Cryptorchidism, Supernumerary nipple |
OMIM:263750 |
Familial Mediterranean Fever |
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Gastrointestinal infarctions, Ascites, Peritonitis, Lymphadenopathy, Malabsorption, Pancreatitis,... |
ORPHA:342 |
Immunodeficiency 47 |
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Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Splenomegaly, Cirrhosis, Accessory... |
OMIM:300972 |
Primary Sclerosing Cholangitis |
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Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular car... |
ORPHA:171 |
Familial Mediterranean Fever |
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Leukocytosis, Hepatomegaly, Peritonitis, Splenomegaly, Crohn's disease, Neutrophilia, Orchitis |
OMIM:249100 |
Esophageal Atresia |
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Pyloric stenosis, Dysphagia, Cleft palate, Duodenal atresia, Morphological abnormality of the gas... |
ORPHA:1199 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hepatomegaly, Esophageal varix, Polycythemia, Micronodular cirrhosis, Splenomegaly, Abnormality o... |
ORPHA:309854 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Pyloric stenosis, Abnormality of endocrine pancreas physiology, Hypospadias, Aplasia/Hypoplasia o... |
ORPHA:93111 |
Pearson Syndrome |
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Hepatomegaly, Dysphagia, Hypoparathyroidism, Neutropenia, Median cleft lip and palate, Macronodul... |
ORPHA:699 |
Kikuchi-Fujimoto Disease |
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Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnormality of the lymph nodes, S... |
ORPHA:50918 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hepatomegaly, Aganglionic megacolon, Ileus, Splenomegaly, Hypogonadism, Microcolon |
ORPHA:163746 |
Degcags Syndrome |
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Pyloric stenosis, Hypospadias, Hepatosplenomegaly, Pancytopenia, Oral-pharyngeal dysphagia, Intes... |
OMIM:619488 |
Gaucher Disease, Type Iiic |
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Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:231005 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Tyrosinemia, Type I |
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Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cirrhosis, Pancreatic islet-cell h... |
OMIM:276700 |
Reynolds Syndrome |
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Hepatomegaly, Splenomegaly, Gastrointestinal hemorrhage, Steatorrhea, Biliary cirrhosis, Jaundice |
OMIM:613471 |
Lymphatic Malformation 6 |
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Ascites, Splenomegaly, Intestinal lymphangiectasia, Gastroesophageal reflux, Hydrocele testis |
OMIM:616843 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Intestinal atresia, Congenital pyloric atresia, Urethral stricture |
ORPHA:79403 |
Hyperlipoproteinemia, Type I |
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Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly |
OMIM:238600 |
Ulnar-Mammary Syndrome |
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Pyloric stenosis, Imperforate hymen, Hypoplastic nipples, Axillary apocrine gland hypoplasia, Ana... |
OMIM:181450 |
Hennekam Syndrome |
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Pyloric stenosis, Pulmonary lymphangiectasia, Ascites, Lymphadenopathy, Lymphangioma, Malabsorpti... |
ORPHA:2136 |
Immunodeficiency 82 With Systemic Inflammation |
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Duodenal ulcer, B lymphocytopenia, Decreased proportion of naive T cells, Villous atrophy, Lympha... |
OMIM:619381 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Hepatomegaly, Cholelithiasis, Neoplasm of the liver, Splenomegaly, Cirrhosis, Acute promyelocytic... |
ORPHA:77293 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Pyloric stenosis, B lymphocytopenia, Hepatomegaly, Cleft palate, Pancreatic hypoplasia, Cholelith... |
ORPHA:83617 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Abnormality of the urethra, Congenital pyloric atresia |
ORPHA:158684 |
Viss Syndrome |
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High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Macroglo... |
OMIM:619472 |
Williams Syndrome |
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Rectal prolapse, Abnormal gastric mucosa morphology, Urethral stenosis, Macroglossia, Hypogonadot... |
ORPHA:904 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |