Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... |
ORPHA:247798 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Polymerase Proofreading-Related Adenomatous Polyposis |
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Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Hereditary Mixed Polyposis Syndrome |
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Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... |
ORPHA:157794 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Mismatch Repair Cancer Syndrome 1 |
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Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Punctate Palmoplantar Keratoderma Type 1 |
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Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Familial Adenomatous Polyposis 1 |
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Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Desmoid Disease, Hereditary |
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Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
Tumor Predisposition Syndrome 4 |
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Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Familial Adenomatous Polyposis |
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Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Myofibromatosis, Infantile, 1 |
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Fibroma, Myofibromatosis |
OMIM:228550 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Juvenile Polyposis Syndrome |
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Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Neuroendocrine Neoplasm Of Appendix |
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Hepatomegaly, Functional intestinal obstruction, Mechanical ileus, Chronic noninfectious lymphade... |
ORPHA:100079 |
Adenocarcinoma Of The Anal Canal |
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Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Lymph... |
ORPHA:424016 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Erythroleukemia, Familial, Susceptibility To |
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Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Sarcoma, Synovial |
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Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
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Alveolar soft part sarcoma |
OMIM:606243 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Chondrosarcoma, Extraskeletal Myxoid |
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Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
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Chondrosarcoma |
OMIM:215300 |
Tumor Predisposition Syndrome 1 |
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Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Colorectal Cancer, Susceptibility To, 12 |
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Colorectal polyposis, Carcinoma |
OMIM:615083 |
Colorectal Cancer |
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Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Mast Cell Sarcoma |
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Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
Undifferentiated Pleomorphic Sarcoma |
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Abnormal peritoneum morphology, Soft tissue sarcoma |
ORPHA:2023 |
Mantle Cell Lymphoma |
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Abnormality of the gastrointestinal tract, Splenomegaly, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
Mismatch Repair Cancer Syndrome 2 |
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Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
Hypereosinophilic Syndrome, Idiopathic |
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Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, Pure red cell aplasia, Erythroid hypop... |
ORPHA:124 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
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Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of ... |
ORPHA:171 |
Serrated Polyposis Syndrome |
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Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Immunodeficiency 16 |
|
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Lung Cancer |
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Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Paraneoplastic Pemphigus |
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B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Dermatofibrosarcoma Protuberans |
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Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... |
OMIM:614470 |
Immunodeficiency 84 |
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Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Ollier Disease |
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Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... |
ORPHA:296 |
Acquired Ichthyosis |
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Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Polyposis Syndrome, Hereditary Mixed, 2 |
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Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
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Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy |
ORPHA:86893 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphoma, Lymphad... |
ORPHA:100025 |
Maffucci Syndrome |
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Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... |
ORPHA:83469 |
Progressive Familial Intrahepatic Cholestasis |
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Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm |
ORPHA:172 |
Lynch Syndrome 8 |
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Endometrial carcinoma, Adenomatous colonic polyposis, Colon cancer, Hereditary nonpolyposis color... |
OMIM:613244 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
Pudendal Neuralgia |
|
Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm |
ORPHA:60039 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Ly... |
OMIM:619164 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Myelodysplasia |
ORPHA:721 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Lynch Syndrome 5 |
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Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... |
OMIM:614350 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
Rhabdoid Tumor |
|
Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla... |
ORPHA:69077 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Myelodysplasia, Anemia of ... |
ORPHA:75564 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy |
ORPHA:545 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm |
OMIM:614337 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyos... |
ORPHA:139411 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... |
OMIM:619375 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c... |
OMIM:620282 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia |
ORPHA:3318 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm |
OMIM:240500 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:2584 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, Abnormal intestine ... |
ORPHA:397596 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... |
ORPHA:79301 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension |
OMIM:617068 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia |
ORPHA:37748 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity |
ORPHA:391 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Yellow Nail Syndrome |
|
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Hypoplasia of lymphatic v... |
ORPHA:662 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... |
ORPHA:1572 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Fibrosarcoma, Ascites |
ORPHA:314478 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion... |
OMIM:616005 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Reduced natural killer... |
OMIM:609981 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... |
OMIM:613101 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... |
ORPHA:98849 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt... |
OMIM:308240 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Malabsorption |
ORPHA:42642 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
Retinoblastoma |
|
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... |
OMIM:619463 |
SĆ©zary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:3162 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis |
ORPHA:75234 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... |
OMIM:602347 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia |
OMIM:618398 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis |
ORPHA:664 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia |
ORPHA:75233 |
Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated... |
ORPHA:3261 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein throm... |
ORPHA:729 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Abnormal lymph... |
ORPHA:39041 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly... |
OMIM:618935 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia |
ORPHA:169090 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Multiple myeloma, Anemia |
OMIM:230800 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix, Cavernous hemangioma, Righ... |
OMIM:616028 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... |
ORPHA:790 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... |
OMIM:612714 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Acholic sto... |
OMIM:607765 |
Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... |
ORPHA:96123 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... |
OMIM:616100 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Generalized lymphadenopathy, P... |
OMIM:614700 |
Polycythemia Vera |
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Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Waldenstrƶm Macroglobulinemia |
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Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Malabso... |
ORPHA:33226 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea |
OMIM:235555 |
Cancer-Associated Retinopathy |
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Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ... |
OMIM:613812 |
Hyper-Igd Syndrome |
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Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Ren... |
OMIM:260920 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Autosomal Recessive Polycystic Kidney Disease |
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Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Chronic Granulomatous Disease |
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Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Pyloric stenosis, Mediast... |
ORPHA:379 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Caroli Disease |
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Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... |
OMIM:208540 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
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Lipoma, Splenomegaly, Nephroblastoma |
OMIM:612918 |
Syndromic Diarrhea |
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Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali... |
ORPHA:84064 |
Familial Tumoral Calcinosis |
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Splenomegaly, Hepatomegaly, Neoplasm of the skin |
ORPHA:53715 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Neurofibromatosis Type 1 |
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Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... |
ORPHA:636 |
Lambert-Eaton Myasthenic Syndrome |
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Small cell lung carcinoma, Xerostomia |
ORPHA:43393 |
Dermatomyositis |
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Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neopla... |
ORPHA:221 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
17Q11 Microdeletion Syndrome |
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Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... |
OMIM:263200 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Adrenocortical carcinoma, Exocrine ... |
ORPHA:116 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... |
ORPHA:567983 |
Hyperlipoproteinemia, Type Id |
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Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Ci... |
ORPHA:77293 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
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T-cell lymphoma, Hodgkin lymphoma |
OMIM:618336 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
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OMIM:615139 |
Image Syndrome |
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ORPHA:85173 |