Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating ant... |
OMIM:614470 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation |
OMIM:131440 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... |
OMIM:615285 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp... |
OMIM:616871 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... |
ORPHA:444463 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Leukemia, Chronic Myeloid |
|
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia |
OMIM:608232 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia |
OMIM:620400 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... |
ORPHA:231401 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia |
OMIM:614082 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen... |
ORPHA:98849 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Primary Myelofibrosis |
|
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... |
ORPHA:824 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia |
OMIM:252270 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Neutrophilia, Hereditary |
|
Myelodysplasia, Splenomegaly, Neutrophilia |
OMIM:162830 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato... |
OMIM:612840 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Inflammation of the large intestine, Recurrent pneumonia, Thrombocytosis, Leukocyto... |
OMIM:619281 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ... |
OMIM:613313 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... |
OMIM:278000 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... |
OMIM:269600 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea... |
ORPHA:98827 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Chronic oral candidiasis, Failure to thrive, Monocytosis |
OMIM:615592 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... |
OMIM:618982 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... |
OMIM:616005 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... |
ORPHA:158057 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... |
OMIM:619924 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia |
ORPHA:100024 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia |
ORPHA:71493 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619658 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Incre... |
OMIM:619644 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis |
OMIM:246470 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa... |
OMIM:619858 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... |
OMIM:603902 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Enlarged tonsils, Leukocytosis |
ORPHA:168621 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Conjunctivitis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Neutropenia, ... |
OMIM:603552 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia |
OMIM:614743 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine... |
OMIM:613759 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts |
OMIM:182170 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Lymphoproliferat... |
ORPHA:90033 |
Immunodeficiency 32B |
|
Pneumonia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, An... |
OMIM:226990 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... |
OMIM:618963 |
Immunodeficiency 104 |
|
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Failure to thrive secondary ... |
OMIM:608971 |
Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... |
OMIM:617514 |
Lymphedema, Primary, With Myelodysplasia |
|
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia |
OMIM:614038 |
Glioma Susceptibility 3 |
|
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... |
OMIM:613029 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Decreased acid sphingomyelinase activity, Thr... |
OMIM:607616 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice |
OMIM:613977 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... |
OMIM:237800 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly |
OMIM:616719 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc... |
ORPHA:848 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Spleno... |
OMIM:603909 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia |
OMIM:610738 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Abnormal B cell count, Splenomegaly, Impaire... |
OMIM:269840 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Increased T cell count, Dec... |
OMIM:620449 |
Essential Thrombocythemia |
|
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... |
ORPHA:3318 |
Immunodeficiency 27A |
|
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo... |
OMIM:209950 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
N Syndrome |
|
Leukemia, Neoplasm |
OMIM:310465 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ... |
OMIM:614742 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi... |
ORPHA:231222 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Macrophage Activation Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Decreased... |
ORPHA:158061 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Eczematoid dermatitis, Failure to thrive, Decreased FOXP3-expressing T cell count, Eos... |
OMIM:304790 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Myelodysplasia, Eosinophilia, Acute myeloid leukemia, Hemangioma, N... |
ORPHA:486 |
Preeclampsia/Eclampsia 1 |
|
Elevated circulating hepatic transaminase concentration, Thrombocytopenia |
OMIM:189800 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia |
ORPHA:2688 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyt... |
ORPHA:98850 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly |
OMIM:619175 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia |
OMIM:608898 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615085 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Myelod... |
OMIM:619151 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Weight loss, Splenomegaly |
ORPHA:79238 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Abnormal B cell morphology |
OMIM:616911 |
Leishmaniasis |
|
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ... |
ORPHA:507 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... |
OMIM:194380 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... |
ORPHA:64743 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite... |
OMIM:617021 |
Immunodeficiency 19 |
|
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent... |
OMIM:615617 |
Myelodysplastic Syndrome |
|
Myelodysplasia |
OMIM:614286 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... |
ORPHA:169160 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... |
OMIM:606003 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... |
OMIM:619164 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo... |
ORPHA:294 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Chilblains, Thromboc... |
OMIM:610329 |
X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hepatitis, Conjunctivitis, Failure to thrive, Osteomyelitis, Skin rash, Abno... |
ORPHA:47 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... |
OMIM:613812 |
Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... |
OMIM:615897 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... |
ORPHA:251380 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... |
ORPHA:53035 |
Aicardi-Goutieres Syndrome 6 |
|
Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia |
OMIM:615010 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... |
OMIM:259710 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sinusitis, Lymphadenopathy, Thrombo... |
OMIM:613101 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... |
OMIM:615631 |
Sweet Syndrome |
|
Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplas... |
ORPHA:3243 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, C... |
ORPHA:858 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Leukocytosis, ... |
OMIM:620565 |
Cutaneous Neuroendocrine Carcinoma |
|
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop... |
ORPHA:79140 |
Omenn Syndrome |
|
Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepat... |
OMIM:603554 |
Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Skin rash, Weight loss, Anemia, ... |
ORPHA:33355 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma |
OMIM:615593 |
Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... |
ORPHA:829 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis |
OMIM:618955 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Isolated Agammaglobulinemia |
|
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Otitis media, Skin rash, Abnormalit... |
ORPHA:229717 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Chronic myelomonocytic leukemia, Acute myeloid leukemia |
OMIM:616604 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... |
OMIM:618204 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom... |
OMIM:619902 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Atypical Hemolytic Uremic Syndrome |
|
Abnormal circulating lactate dehydrogenase concentration, Thrombocytopenia, Microangiopathic hemo... |
ORPHA:2134 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Congenital Atransferrinemia |
|
Anemia, Arthritis, Abnormality of the pancreas |
ORPHA:1195 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... |
OMIM:616860 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent otitis media, Recurrent... |
OMIM:301078 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:312863 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... |
OMIM:224100 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... |
OMIM:618987 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Immunodeficiency 46 |
|
Failure to thrive, Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Chronic or... |
OMIM:616740 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Absence of lymph node germinal center, Failure to thrive, Splenomegaly, Sclerosing cho... |
OMIM:308230 |
Fetal Parvovirus Syndrome |
|
Anemia, Ascites, Thrombocytopenia |
ORPHA:295 |
Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm... |
OMIM:231000 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Wolman Disease |
|
Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Splenomegaly, H... |
OMIM:620151 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... |
OMIM:619463 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... |
OMIM:618986 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
Babesiosis |
|
Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an... |
ORPHA:108 |
Alpha-Heavy Chain Disease |
|
Lymphoma, Ascites, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:100025 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Otitis media, Crypt... |
OMIM:612541 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Bone marrow hypocellulari... |
OMIM:617341 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... |
ORPHA:54251 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis, Arthritis |
ORPHA:139436 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... |
ORPHA:158029 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... |
OMIM:618534 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... |
OMIM:617394 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia |
OMIM:300299 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Polycythemia Vera |
|
Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leukocytosis, Portal vein thromb... |
ORPHA:729 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
Tempi Syndrome |
|
Polycythemia, Ascites, Increased hematocrit, Hemangioma, Increased circulating IgG level |
ORPHA:284227 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... |
OMIM:613280 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias |
OMIM:605724 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia, Myelodysplasia |
OMIM:185050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Lymphoma, Microcytic anemia, Lymphopenia, Neoplas... |
ORPHA:906 |
Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly |
ORPHA:42642 |
Hepatitis Delta |
|
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... |
ORPHA:402823 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recu... |
OMIM:607594 |
Immunodeficiency 7 |
|
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... |
OMIM:615387 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni... |
ORPHA:397596 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Splenomegaly, Intermittent jaundice |
OMIM:179700 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Absent circulating B cells, Neutropenia, Abnormal T ce... |
OMIM:613501 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Fa... |
ORPHA:331206 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
Wolman Disease |
|
Hepatic failure, Ascites, Splenomegaly, Anemia, Cachexia, Hepatomegaly, Bone-marrow foam cells |
ORPHA:75233 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Increased circulating lactate dehydrogenase concentration, Pers... |
OMIM:613673 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Failure to thrive, C... |
OMIM:615486 |
Congenital Enterovirus Infection |
|
Fetal ascites, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrop... |
ORPHA:292 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia |
OMIM:614493 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo... |
OMIM:618495 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... |
OMIM:610333 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, Myelodysplasia, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
OMIM:614727 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Inflammatory abnormality of the skin, Absence of lymph node germinal center,... |
ORPHA:277 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
OMIM:615895 |
Systemic Lupus Erythematosus 17 |
|
Myelitis, Lymphopenia, Leukopenia, Malar rash, Optic neuritis, Thrombocytopenia, Autoimmune throm... |
OMIM:301080 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Generalized lymphade... |
OMIM:620282 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... |
ORPHA:77297 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... |
ORPHA:79301 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Failure to thrive, Pancytopenia, Splenomegaly, Skin rash, Ente... |
OMIM:616050 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia |
ORPHA:37748 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... |
OMIM:619220 |
Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:172 |
Hepatocellular Carcinoma |
|
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma |
OMIM:114550 |
Galactosemia Iii |
|
Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice |
OMIM:230350 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E... |
OMIM:224120 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... |
ORPHA:100026 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis |
OMIM:616744 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas... |
OMIM:300853 |
Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent otitis media, B lymphocytopenia |
OMIM:616941 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Hepatitis |
OMIM:613783 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... |
OMIM:601457 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, Elevated circulatin... |
OMIM:619868 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Fa... |
ORPHA:98813 |
Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... |
ORPHA:47612 |
Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... |
ORPHA:210136 |
Immunodeficiency 114, Folate-Responsive |
|
Atopic dermatitis, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:620603 |
Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... |
ORPHA:3392 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia, Reduced 3-phosphoglycerate deh... |
OMIM:601815 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Sinusitis, Neutropenia, A... |
ORPHA:33110 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Failure to thrive, Pancytopenia, Decre... |
ORPHA:572 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... |
OMIM:251880 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... |
OMIM:617591 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Tafro Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Leukocyto... |
ORPHA:457077 |
Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Increased proportion of transitional B cells, B lymphocyt... |
OMIM:618459 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocy... |
OMIM:259720 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Hemangioma, Increased red b... |
OMIM:263400 |
Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Neutropenia |
OMIM:300988 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:601859 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis |
ORPHA:26137 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Transaldolase Deficiency |
|
Anemia, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia |
ORPHA:101028 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:79124 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis, Absent circulating B cells, Thro... |
OMIM:619693 |
Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Abnormal B cell count, Glomerulonephritis, Hepatomegaly, Autoimmune thromb... |
OMIM:613496 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... |
OMIM:616433 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczematoid dermatitis |
OMIM:176090 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... |
OMIM:235700 |
Mismatch Repair Cancer Syndrome 1 |
|
Basal cell carcinoma, Adenocarcinoma of the colon, T-cell lymphoma, Lymphoma, Oligodendroglioma, ... |
OMIM:276300 |
Juvenile Arthritis |
|
Leukocytosis, Skin rash, Thrombocytosis |
OMIM:618795 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con... |
ORPHA:3203 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... |
OMIM:613493 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly |
OMIM:615630 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Hepatomegaly, Ascites, Thrombocytopenia |
ORPHA:2123 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of ... |
OMIM:612714 |
Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... |
ORPHA:398124 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Caroli Syndrome |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
ORPHA:480520 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... |
OMIM:620010 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo... |
OMIM:231100 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:264580 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Te... |
ORPHA:83469 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a... |
OMIM:620376 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... |
ORPHA:79456 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Failure to thrive |
ORPHA:796 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Pancytopenia, ... |
OMIM:613989 |
Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615438 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia |
ORPHA:27 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259730 |
Q Fever |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Osteomy... |
ORPHA:781 |
Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Lymphopenia, ... |
OMIM:602450 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Failure to thrive, Neutrophilic infiltration of the skin,... |
OMIM:618048 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Cryptorchidism, Ane... |
ORPHA:67044 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia |
ORPHA:69077 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr... |
ORPHA:99867 |
Lig4 Syndrome |
|
Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly |
ORPHA:99812 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... |
OMIM:619662 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Reduced ... |
OMIM:232400 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis,... |
OMIM:611762 |
Neurofibromatosis Type 1 |
|
Chronic myelogenous leukemia, Neoplasm of the skin, Meningioma, Rhabdomyosarcoma, Pheochromocytom... |
ORPHA:636 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
Follicular Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... |
ORPHA:545 |
Tumor Predisposition Syndrome 2 |
|
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... |
OMIM:619975 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
X-Linked Sideroblastic Anemia |
|
Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly |
ORPHA:75563 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ... |
OMIM:615234 |
Immunodeficiency 13 |
|
Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop... |
OMIM:615518 |
Immunodeficiency 92 |
|
Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Esophagitis, Sclerosing cholangitis, Lymp... |
OMIM:619652 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly, Failure to thrive |
ORPHA:28 |
Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated circulating aspartate ami... |
OMIM:170100 |
Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... |
OMIM:616622 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Atopic dermatitis, Ascites, Leukocytosis, Eosinophilia, Weight loss, Anemia |
ORPHA:2070 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... |
OMIM:619377 |
Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... |
OMIM:152700 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol... |
OMIM:266200 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss, Bronchiectasis |
ORPHA:1164 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato... |
OMIM:609628 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... |
OMIM:619846 |
Cyclic Neutropenia |
|
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... |
ORPHA:2686 |
Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv... |
OMIM:607115 |
Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Monoclonal elevation of IgG, Chronic ly... |
ORPHA:91139 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... |
OMIM:214900 |
Neutropenia, Chronic Familial |
|
Neutropenia, Increased circulating antibody level |
OMIM:162700 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Congenital Syphilis |
|
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundi... |
ORPHA:499009 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Graft Versus Host Disease |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... |
ORPHA:39812 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Impaired ... |
OMIM:300400 |
Chilblain Lupus |
|
Chronic myelomonocytic leukemia, Increased circulating antibody level |
ORPHA:90280 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asc... |
OMIM:619487 |
Shwachman-Diamond Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa... |
OMIM:260400 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... |
ORPHA:2137 |
Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Ebola Hemorrhagic Fever |
|
Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Maculopapular exanthema, Acute pancreatitis |
ORPHA:319218 |
Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Congenital hepatic fibrosis |
ORPHA:446 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Failure to thrive, Skin r... |
OMIM:618108 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
Omenn Syndrome |
|
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatom... |
ORPHA:39041 |
Poems Syndrome |
|
Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Hemangi... |
ORPHA:2905 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatosplenomegaly, Pancytopenia,... |
ORPHA:228426 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Von Hippel-Lindau Syndrome |
|
Retinal capillary hemangioma, Polycythemia, Pheochromocytoma, Paraganglioma, Spinal hemangioblast... |
OMIM:193300 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... |
OMIM:613839 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e... |
ORPHA:79240 |
Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Congenital Rubella Syndrome |
|
Splenomegaly, Skin rash, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:290 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia, Failure to thrive |
OMIM:610090 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephalitis, Pancr... |
ORPHA:549 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Absent neutrophil specific granul... |
OMIM:617475 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega... |
ORPHA:98848 |
Harderoporphyria |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Immunodeficiency, Common Variable, 11 |
|
Abnormal T cell count, Inflammation of the large intestine, Failure to thrive, Crohn's disease, D... |
OMIM:615767 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:391 |
Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomeg... |
OMIM:615122 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Avian Influenza |
|
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati... |
ORPHA:454836 |
Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... |
ORPHA:131 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma... |
OMIM:246400 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Mpi-Cdg |
|
Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulating enzyme concen... |
ORPHA:79319 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
Caspase 8 Deficiency |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Lymph... |
OMIM:607271 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Noonan Syndrome 12 |
|
Atopic dermatitis, Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocyt... |
OMIM:618624 |
Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... |
ORPHA:263501 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... |
OMIM:613470 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormal... |
ORPHA:398063 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Mhc Class Ii Deficiency 1 |
|
Chronic mucocutaneous candidiasis, Failure to thrive, Biliary tract abnormality, Infectious encep... |
OMIM:209920 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... |
OMIM:620367 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis |
ORPHA:86884 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly |
OMIM:618107 |
Immunodeficiency, Common Variable, 2 |
|
Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Follicular hype... |
OMIM:240500 |
Atelis Syndrome 1 |
|
Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Bronchiectasis |
OMIM:620184 |
Hemochromatosis, Type 3 |
|
Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Art... |
OMIM:604250 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:275761 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... |
ORPHA:84081 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased proportion of naive T cells, Aplas... |
ORPHA:83471 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Leukemia, Lymphoma, Splenomegaly, Lym... |
ORPHA:33226 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... |
OMIM:208085 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... |
OMIM:102700 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Mevalonic Aciduria |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:610377 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Failure to thrive, Splenomegaly, Adrenocorticotropic hormone e... |
OMIM:609981 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concent... |
ORPHA:811 |
Thrombotic Thrombocytopenic Purpura |
|
Abnormal circulating lactate dehydrogenase concentration, Thrombocytopenia, Reticulocytosis, Micr... |
ORPHA:54057 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Relapsing Fever |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:91547 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Immunodeficiency 115 With Autoinflammation |
|
Eczematoid dermatitis, Intestinal lymphangiectasia, Splenomegaly, Superficial dermal perivascular... |
OMIM:620632 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, Interface hepati... |
OMIM:243150 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... |
ORPHA:540 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ... |
OMIM:604416 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure to thrive, Leu... |
OMIM:603553 |
Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Heme Oxygenase 1 Deficiency |
|
Nephritis, Increased circulating lactate dehydrogenase concentration, Cervical lymphadenopathy, E... |
OMIM:614034 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspar... |
OMIM:257200 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... |
ORPHA:400 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Hypochromia, Elevated hepatic iron concentration, Anemia, Decreased mean c... |
OMIM:206100 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:333 |
Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congenital hepatic fib... |
OMIM:619111 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal... |
ORPHA:158048 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an... |
ORPHA:440713 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc... |
OMIM:269200 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Lymphoma, Impaired arac... |
OMIM:601399 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatitis, Failure to thrive in infancy, Pancytopenia, Hypersplenism, Portal hypertension, Spleno... |
OMIM:613385 |
Classic Mycosis Fungoides |
|
Eczematoid dermatitis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Lymphadenopathy, ... |
ORPHA:2584 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb... |
OMIM:616576 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Eosinophilia, Neutropeni... |
ORPHA:1163 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomeg... |
OMIM:267700 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... |
OMIM:602347 |
Farber Lipogranulomatosis |
|
Failure to thrive, Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Arthriti... |
OMIM:228000 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Isovaleric Acidemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Reduced isovaleryl CoA d... |
OMIM:243500 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Melioidosis |
|
Pneumonia, Brain abscess, Cutaneous abscess, Hepatitis, Foot osteomyelitis, Parotitis, Abnormalit... |
ORPHA:31202 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat... |
OMIM:617780 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Decreased response to growth ... |
OMIM:307200 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph... |
OMIM:216360 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells, Lymphocyti... |
ORPHA:133 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurrent skin infections |
OMIM:620210 |
Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Testicular seminoma |
ORPHA:281090 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
ORPHA:85212 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... |
OMIM:603471 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... |
OMIM:612260 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Abnormality of thrombocytes |
ORPHA:3204 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, B lymphocytopenia, Abnormal T cel... |
OMIM:612692 |
Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... |
OMIM:300835 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Increased circulating lactate dehydrogenase concentration, Retic... |
OMIM:210250 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circul... |
OMIM:618805 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Cheilitis |
ORPHA:90045 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Autoimmune hemol... |
OMIM:616100 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis |
ORPHA:90064 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen... |
ORPHA:520 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... |
OMIM:619484 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat... |
OMIM:601847 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Boutonneuse Fever |
|
Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Sk... |
ORPHA:83313 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells, Recurrent sinusitis |
OMIM:619707 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Anemia, Interstitial pneumonitis, Splenomegaly |
OMIM:620296 |
Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly |
ORPHA:33402 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Medi... |
ORPHA:91138 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... |
OMIM:618935 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Pancytopenia, H... |
ORPHA:77259 |
Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Fail... |
OMIM:613561 |
Propionic Acidemia |
|
Eczematoid dermatitis, Failure to thrive, Pancytopenia, Propionyl-CoA carboxylase deficiency, Hep... |
OMIM:606054 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, Decreased proportion of memory B cells, Otitis media, B lymphocytopenia, Sinus... |
ORPHA:70593 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... |
OMIM:618394 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... |
OMIM:615214 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis |
OMIM:618398 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes |
OMIM:269920 |
Pelger-Huet Anomaly |
|
Giant platelets, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Hyposegmentati... |
OMIM:169400 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Ab... |
ORPHA:309854 |
Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
Dpm1-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
ORPHA:79322 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Hepatitis, Eczematoid dermatitis, Chronic mucocutaneous can... |
ORPHA:391487 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Lymphangiectasis, Hepatomegaly |
OMIM:602579 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Weight loss, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis |
OMIM:614379 |
Myh9-Related Disease |
|
Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets, Congenital t... |
ORPHA:182050 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Pituitary adenoma, Hepatitis, Failure to thrive, Macrocytic anemia, Hashimoto ... |
ORPHA:199299 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Abnormal thymus morphology, Pur... |
ORPHA:589 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Septic arthritis, Conjunctivitis, Recurrent otitis media, Py... |
OMIM:300755 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated circulating hepatic transaminase concentration, Leukocytosis, Elevated circulating alkal... |
ORPHA:67 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Bronchiectasis,... |
OMIM:613490 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased circulating lactate dehydrogenase concentration, Failure to thrive, Osteomyelitis, Panc... |
OMIM:259700 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
Immunodeficiency 22 |
|
Failure to thrive, Ascites, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombo... |
OMIM:615758 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus... |
ORPHA:232 |
Stuve-Wiedemann Syndrome 2 |
|
Eczematoid dermatitis, Thrombocytopenia |
OMIM:619751 |
Hemochromatosis, Type 4 |
|
Hepatic steatosis, Hepatomegaly, Cirrhosis, Osteoarthritis, Anemia |
OMIM:606069 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Decreased liver function, Ascites, Cholestasis, Cryptorchidism, Hepatomegaly, ... |
OMIM:608104 |
Livedoid Vasculopathy |
|
Anemia, Pancytopenia, Leukocytosis, Polycythemia |
ORPHA:542643 |
Fibrodysplasia Ossificans Progressiva |
|
Anemia, Failure to thrive |
ORPHA:337 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Abnormal lymph no... |
ORPHA:911 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hepatic steatosis |
ORPHA:280356 |
Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal... |
OMIM:214500 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Extramedullary hematopoiesis |
ORPHA:313855 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Eczematoid dermatitis, Failure to thrive in... |
OMIM:606367 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome... |
OMIM:263200 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Pancytopenia, Hepatic steatosis, Hepatomegaly |
OMIM:617872 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... |
ORPHA:90003 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Thrombocytopenia |
OMIM:224230 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun... |
ORPHA:276 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Immunodeficiency 82 With Systemic Inflammation |
|
Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, Recurrent skin infect... |
OMIM:619381 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Recurrent sinusitis, B lymphocytopenia, Chronic otitis media, T lym... |
ORPHA:217390 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Failure to thrive, Large for gestational age, Thrombocytopenia, Neut... |
OMIM:614520 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... |
ORPHA:3260 |
Bleeding Disorder, Platelet-Type, 21 |
|
Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:617443 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Splenomegaly, Ascites |
ORPHA:1046 |
Galactosemia I |
|
Failure to thrive, Decreased liver function, Elevated circulating aspartate aminotransferase conc... |
OMIM:230400 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Pyoderma Gangrenosum |
|
Myelodysplasia, Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, B lymphocytopenia, Coli... |
OMIM:618969 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Anemia |
OMIM:618728 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n... |
OMIM:607676 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chron... |
ORPHA:169090 |
Nephronophthisis 11 |
|
Anemia, Hepatic fibrosis |
OMIM:613550 |
Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... |
OMIM:227645 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Panniculitis, Bronchi... |
ORPHA:60 |
Syndromic Diarrhea |
|
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... |
ORPHA:84064 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Splenomegaly, Hepatic ... |
OMIM:615846 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... |
OMIM:606843 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
ORPHA:75234 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... |
OMIM:618999 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating hepatic transaminase concentrati... |
OMIM:232700 |
Cinca Syndrome |
|
Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Inflammatory abnormality o... |
ORPHA:1451 |
Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... |
ORPHA:186 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... |
OMIM:619374 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple... |
OMIM:613489 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Hypereosinophilia, Leukocytosis, Weight loss |
ORPHA:2902 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Sinus... |
ORPHA:169105 |
Galactosemia Iv |
|
Hepatomegaly, Prolonged neonatal jaundice |
OMIM:618881 |
Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... |
OMIM:617052 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Thrombocytopenia |
OMIM:612952 |
Bone Dysplasia, Lethal Holmgren Type |
|
Anemia, Hepatomegaly, Weight loss, Failure to thrive |
ORPHA:1842 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, He... |
ORPHA:51 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Leukocytosis, Thrombocytopenia, Goiter |
ORPHA:83601 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... |
OMIM:611182 |
Lathosterolosis |
|
Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated ci... |
OMIM:607330 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Small for gestational age |
OMIM:614602 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... |
ORPHA:169154 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Eczematoid... |
ORPHA:436159 |
Stt3B-Cdg |
|
Failure to thrive, Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:275555 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder |
ORPHA:100924 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Failure to ... |
OMIM:617093 |
Formiminoglutamic Aciduria |
|
Anemia, Abnormal circulating enzyme concentration or activity, Megaloblastic anemia |
ORPHA:51208 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Pseudo-Torch Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... |
OMIM:251290 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis |
ORPHA:33577 |
Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Abscess, Skin rash, Infectious encephalitis, Incr... |
ORPHA:36234 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Splenomegaly, Cirrhosis, Throm... |
OMIM:222470 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly, Tubuloi... |
OMIM:251000 |
Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Splenomegaly, Increased hepatic glyc... |
OMIM:261750 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
Dengue Fever |
|
Ascites, Leukopenia, Skin rash, Thrombocytopenia, Hepatomegaly |
ORPHA:99828 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Elevated gamma-glutamyltransferase level, Recurrent pneumo... |
ORPHA:731 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Abnormal T cell count, Hepatic hemophagocytosis, Recurrent otitis media, Abnormal B cell count, A... |
OMIM:620430 |
Cog7-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, H... |
ORPHA:79333 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Ly... |
ORPHA:160 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Lymphoma, Lymphopenia, Decreas... |
OMIM:208900 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:121300 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit... |
OMIM:617388 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Absent circulating B cells, Decreased proportion of class-switched memory B cell... |
OMIM:619705 |
Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Pancytopenia, Hepatomegaly, Throm... |
OMIM:251110 |
Adams-Oliver Syndrome |
|
Failure to thrive, Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhos... |
ORPHA:974 |
Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusi... |
OMIM:615207 |
Sepsis In Premature Infants |
|
Decreased liver function, Leukocytosis, Splenomegaly, Decreased body weight, Hepatomegaly, Entero... |
ORPHA:90051 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Osteomyelitis, Hepatosplenomegaly, Optic neuritis, Neutropenia, B lymphocytopenia, Pa... |
OMIM:301081 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Weig... |
ORPHA:33276 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Decreased methionine synthase activity, Cryptorchidism, Thrombocytopenia, Neut... |
OMIM:614857 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Failure to thrive, Decreased methionine synthase activity, Pancytopenia, Skin rash, Hepatomegaly,... |
OMIM:277380 |
Common Variable Immunodeficiency |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Failure to th... |
ORPHA:1572 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Skin rash, Splenomegaly |
OMIM:105200 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa... |
OMIM:620005 |
Ollier Disease |
|
Neoplasm, Lymphangioma, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral angiomat... |
ORPHA:296 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Failure... |
OMIM:617718 |
Senior-Loken Syndrome 9 |
|
Cholestasis, Hepatic fibrosis, Obesity, Tubulointerstitial nephritis |
OMIM:616629 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati... |
OMIM:614576 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Hepatomegaly, Weight loss |
ORPHA:2198 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Thrombocytopenia,... |
OMIM:185070 |
Cronkhite-Canada Syndrome |
|
Anemia, Hepatomegaly, Cachexia, Splenomegaly |
ORPHA:2930 |
Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly |
OMIM:607361 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology |
ORPHA:2023 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... |
OMIM:618549 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau... |
OMIM:301068 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Cardiomegaly, Cryptorchidism, Small for gestational age |
OMIM:620135 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymphopenia, Abnormal lymphatic vessel... |
ORPHA:90362 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Recurrent otitis media, Abnormal B cell morphology, Cryptorchidism |
OMIM:616910 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Po... |
ORPHA:284 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Down Syndrome |
|
Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni... |
ORPHA:870 |
Kikuchi-Fujimoto Disease |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:50918 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Lig4 Syndrome |
|
Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia, Myelodysplasia |
OMIM:606593 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... |
OMIM:619481 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
Immunodeficiency 31C |
|
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Osteomyelitis, Autoimmune ... |
OMIM:614162 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Exoc... |
OMIM:557000 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr... |
OMIM:608233 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio... |
ORPHA:79230 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... |
OMIM:619510 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Pancytopenia, Hepatomegaly, Throm... |
OMIM:251100 |
Laurence-Moon Syndrome |
|
Obesity, Congenital hepatic fibrosis |
ORPHA:2377 |
Retinoblastoma |
|
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma |
OMIM:180200 |
Turcot Syndrome With Polyposis |
|
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia, Glioblast... |
ORPHA:99818 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Weight loss, Pancreatitis, Myocarditis, Pericarditis |
ORPHA:188 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Eczematoid dermatitis, Keratoconjunctivitis, Weight loss, Thrombocytopenia |
ORPHA:79242 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia |
OMIM:613845 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Immunodeficiency 17 |
|
Abnormal B cell morphology, Eczematoid dermatitis, Failure to thrive, Decreased proportion of CD8... |
OMIM:615607 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Anemia... |
ORPHA:298 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... |
OMIM:211600 |
Diamond-Blackfan Anemia |
|
Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu... |
ORPHA:124 |
Cryptogenic Organizing Pneumonia |
|
Weight loss, Leukocytosis, Neutrophilia |
ORPHA:1302 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
Immunodeficiency 10 |
|
Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Autoimmune hemolytic anemia, Abnormal ... |
OMIM:612783 |
Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Failure to thrive, Abnormal leukocyte morphology, Thrombocytopenia, ... |
ORPHA:3322 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
Drug-Induced Lupus Erythematosus |
|
Malar rash, Serositis, Thrombocytopenia, Anemia, Pericarditis |
ORPHA:231111 |
Sézary Syndrome |
|
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglob... |
ORPHA:3162 |
Oslam Syndrome |
|
Anemia, Neoplasm, Osteosarcoma |
OMIM:165660 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Acute hepatitis, Failure to thrive, Decreased liver function |
OMIM:238970 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Reticulocytopenia, B... |
ORPHA:508542 |
Rift Valley Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... |
ORPHA:319251 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... |
OMIM:127550 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Galactose Mutarotase Deficiency |
|
Failure to thrive, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentrati... |
ORPHA:570422 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Increased circulating lactate dehydrogenase concentration, Microan... |
ORPHA:93552 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615158 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pne... |
OMIM:230900 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Elevated circulating hepatic transam... |
OMIM:306000 |
Spondyloenchondrodysplasia |
|
Pneumonia, Granuloma, Hepatitis, Decreased response to growth hormone stimulation test, Pancytope... |
ORPHA:1855 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
Pediatric-Onset Graves Disease |
|
Elevated circulating hepatic transaminase concentration, Keratitis, Failure to thrive, Goiter, Ep... |
ORPHA:525731 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis |
OMIM:619183 |
Takayasu Arteritis |
|
Increased inflammatory response, Inflammatory abnormality of the eye, Weight loss, Arthritis, Anemia |
ORPHA:3287 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Cho... |
OMIM:611881 |
Roifman Syndrome |
|
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, L... |
OMIM:616651 |
Von Hippel-Lindau Disease |
|
Retinal capillary hemangioma, Polycythemia, Endolymphatic sac tumor, Pancreatic islet cell adenom... |
ORPHA:892 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,... |
OMIM:617941 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney |
OMIM:200995 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:613404 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Polycythemia, Ascites |
OMIM:606812 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticuloc... |
OMIM:275350 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Vexas Syndrome |
|
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... |
OMIM:301054 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Muckle-Wells Syndrome |
|
Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, Skin rash, Hepatomegaly, Arthritis, An... |
ORPHA:575 |
Shigellosis |
|
Pneumonia, Hepatic failure, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, F... |
ORPHA:810 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Cirrhosis, Splenomegaly, Arthritis |
OMIM:602390 |
Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Neutropen... |
OMIM:227646 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
OMIM:212065 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis, Failure to thrive |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis, Failure to thrive |
OMIM:610247 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79402 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Aca... |
ORPHA:14 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Reticulocytopenia, D... |
ORPHA:300298 |
Mirage Syndrome |
|
Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Decreas... |
OMIM:617053 |
Lesch-Nyhan Syndrome |
|
Anemia, Gout |
ORPHA:510 |
Neuraminidase Deficiency |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells |
OMIM:256550 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Failure to thrive |
ORPHA:251009 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
Coach Syndrome 3 |
|
Anemia, Portal fibrosis |
OMIM:619113 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Increased body weight, Increased body mass index |
OMIM:614450 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent pneumonia, Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepa... |
ORPHA:35078 |
Bloom Syndrome |
|
Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Hepatic steatosis, Sq... |
OMIM:210900 |
C1Q Deficiency 2 |
|
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemia, Bronchiect... |
OMIM:620321 |
Alg8-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Ascites, Thrombocytop... |
ORPHA:79325 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... |
ORPHA:288 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Cirrhosis |
ORPHA:79278 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis |
OMIM:120100 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Prolonged n... |
OMIM:274150 |
Wolcott-Rallison Syndrome |
|
Elevated circulating hepatic transaminase concentration, Ascites, Exocrine pancreatic insufficien... |
ORPHA:1667 |
Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Ascites, Increased body weight, Hepatome... |
ORPHA:890 |
Nephronophthisis 16 |
|
Cholestasis, Periportal fibrosis, Enlarged kidney |
OMIM:615382 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy |
OMIM:620514 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233710 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia |
OMIM:613224 |
Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Failure to thrive, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Sp... |
OMIM:613179 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Pneumocystosis |
|
Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Weight loss,... |
ORPHA:723 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:930 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ra... |
ORPHA:31205 |
Copper Deficiency, Familial Benign |
|
Anemia, Seborrheic dermatitis, Failure to thrive |
OMIM:121270 |
Joubert Syndrome With Hepatic Defect |
|
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge... |
ORPHA:1454 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Rhinitis, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Myelodysplasia |
OMIM:619951 |
Pyomyositis |
|
Testicular teratoma, Leukocytosis, Myositis, Weight loss, Recurrent cutaneous abscess formation |
ORPHA:764 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Primary Sjögren Syndrome |
|
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L... |
ORPHA:289390 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Septic arthritis, Failure to thrive, Osteomyelitis, Arthritis, Hypochromic microcytic anemia, Hep... |
OMIM:619423 |
Intermediate Osteopetrosis |
|
Anemia, Osteomyelitis, Hepatosplenomegaly, Elevated circulating alkaline phosphatase concentration |
ORPHA:210110 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Hepatosplenomegaly, Synovitis, Knee osteoarthritis, Iridocyclitis, Oligoarthr... |
ORPHA:85408 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... |
OMIM:301310 |
Mucopolysaccharidosis-Plus Syndrome |
|
Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Leukopenia, Splenomegaly, Hepatomega... |
OMIM:617303 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Micro... |
OMIM:611126 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... |
OMIM:614946 |
Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega... |
OMIM:605309 |
Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... |
ORPHA:2330 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Recurrent aphthous stomatitis, T lymphocytopenia, Abnormal natural killer cell morphology, B lymp... |
OMIM:615966 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Ascites, Weight loss, Lymphadenopathy, Abnormal peritoneum m... |
ORPHA:26790 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... |
OMIM:233690 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thromb... |
OMIM:222700 |
Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis |
OMIM:616084 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... |
ORPHA:464329 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... |
ORPHA:454831 |
Mcleod Syndrome |
|
Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati... |
OMIM:300842 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Hepatomegaly, Recurrent pneumonia, Splenomegaly |
OMIM:615637 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia |
ORPHA:93941 |
Necrotizing Enterocolitis |
|
Ascites, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Small for gestational age |
ORPHA:391673 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro... |
ORPHA:293173 |
Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... |
OMIM:257220 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re... |
ORPHA:676 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Small for gestatio... |
OMIM:619573 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustular rash, Failure to thrive, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Sk... |
OMIM:615934 |
Klatskin Tumor |
|
Weight loss, Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
Neuroblastoma, Susceptibility To, 1 |
|
Anemia, Weight loss, Abdominal mass, Failure to thrive |
OMIM:256700 |
Acquired Purpura Fulminans |
|
Hepatic failure, Skin rash, Thrombocytopenia |
ORPHA:49566 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Lipid accumula... |
ORPHA:20 |
Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in... |
ORPHA:247585 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Cholelithiasis, Small for gestational age, Normochromic anemia |
OMIM:618775 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Mucopolysaccharidosis Type 7 |
|
Ascites, Hepatitis, Splenomegaly |
ORPHA:584 |
Muckle-Wells Syndrome |
|
Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema, Leukocytosis |
OMIM:191900 |
Wilson Disease |
|
Hepatic failure, Portal fibrosis, Ascites, Acute hepatic failure, Elevated circulating aspartate ... |
OMIM:277900 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss, Left ventricular hypertrophy, Pericarditis |
ORPHA:75566 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Elevated circulating hepatic tr... |
OMIM:618752 |
Chronic Granulomatous Disease |
|
Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of the eye, Sinusitis... |
ORPHA:379 |
Congenital Factor Xiii Deficiency |
|
Hepatic failure, Myeloid leukemia |
ORPHA:331 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... |
ORPHA:209902 |
Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, B lymphocytopenia |
OMIM:614069 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... |
ORPHA:2072 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Hepatomegaly, Juvenile rheumatoid arthritis,... |
ORPHA:85414 |
Rothmund-Thomson Syndrome |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc... |
ORPHA:2909 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Gout, Neutropenia |
OMIM:617056 |
Neuroblastoma |
|
Increased circulating lactate dehydrogenase concentration, Weight loss, Lymphadenopathy, Thromboc... |
ORPHA:635 |
Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Myeloid leukemia |
ORPHA:404443 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, ... |
ORPHA:99931 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Ascites |
OMIM:603278 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome... |
OMIM:615688 |
Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc... |
ORPHA:221008 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... |
OMIM:614921 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophi... |
OMIM:612852 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
Bloom Syndrome |
|
Neoplasm of the skin, Decreased circulating IgG level, Recurrent tonsillitis, Lymphoma, Malignant... |
ORPHA:125 |
Whipple Disease |
|
Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Hepatomegaly, Cachexia, Arthritis, Myoc... |
ORPHA:3452 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Hypereosinophilia, Weight loss |
ORPHA:449400 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cel... |
OMIM:617099 |
Malt Lymphoma |
|
Posterior uveitis, Weight loss, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy |
ORPHA:52417 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Anemia, Punctate keratitis, Keratitis |
OMIM:226670 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Cardiomegaly, Hepatomegaly, Necr... |
OMIM:201475 |
Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ... |
ORPHA:1830 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, ... |
OMIM:608013 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Ascites, Elevated circulating hepatic transaminase concentration, Thrombocytopenia |
OMIM:617397 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, ... |
OMIM:618278 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... |
ORPHA:98870 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Weigh... |
ORPHA:85450 |
Peripheral Primitive Neuroectodermal Tumor |
|
Increased circulating lactate dehydrogenase concentration, Pelvic mass, Ascites, Weight loss, Pan... |
ORPHA:370348 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Bronchiectasis, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Cholangitis |
OMIM:614204 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia |
OMIM:226300 |
Kawasaki Disease |
|
Hepatitis, Conjunctivitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Skin rash, Arth... |
ORPHA:2331 |
Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Melanoma, Anemia, Squamous... |
ORPHA:221016 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:99901 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Weight loss, Leukocytosis, Thrombocytosis |
ORPHA:134 |
Zika Virus Disease |
|
Myelitis, Skin rash, Infectious encephalitis, Arthritis, Thrombocytopenia, Conjunctivitis, Maculo... |
ORPHA:448237 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Failure to thrive, Splenomegaly, Macrocytic anemia, Cholecysti... |
OMIM:615512 |
Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Oropharyngeal squamous cell carcinoma, Hod... |
OMIM:305000 |
Familial Benign Copper Deficiency |
|
Anemia, Acne |
ORPHA:1551 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... |
ORPHA:1333 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Anisocytosis |
OMIM:604273 |
Mccune-Albright Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Increased circulating prolactin concentration, Goiter, Ch... |
ORPHA:562 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, B lymphocyto... |
OMIM:601495 |
Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Increas... |
ORPHA:167 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Hashimoto th... |
ORPHA:436252 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive... |
OMIM:212750 |
Hemolytic Anemia, Congenital, X-Linked |
|
Jaundice, Hemolytic anemia |
OMIM:301015 |
Gaucher Disease |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Pancytopenia, Leuk... |
ORPHA:355 |
Donohue Syndrome |
|
Cholestasis, Hepatic fibrosis, Severe failure to thrive, Pancreatic islet-cell hyperplasia |
OMIM:246200 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
Nijmegen Breakage Syndrome |
|
Acute leukemia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-cell lymphoma, Thrombo... |
ORPHA:647 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chilblains, Hepatomegaly, ... |
OMIM:225750 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Failure to thrive, Decreased response to growth hormone s... |
OMIM:603467 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Splenomegaly |
ORPHA:664 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Jaundi... |
OMIM:232800 |
Gm1-Gangliosidosis, Type Iii |
|
Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity |
OMIM:230650 |
Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Neo... |
ORPHA:116 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Ascites |
ORPHA:834 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Overlap Myositis |
|
Rheumatoid arthritis, Elevated circulating hepatic transaminase concentration, Leukopenia, Arthri... |
ORPHA:206572 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... |
OMIM:619048 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Neuroblastoma |
OMIM:610832 |
Tarp Syndrome |
|
Failure to thrive, Cryptorchidism, Extramedullary hematopoiesis |
ORPHA:2886 |
Ménétrier Disease |
|
Weight loss, Hypochromic microcytic anemia, Giant hypertrophic gastritis |
ORPHA:2494 |
Anal Fistula |
|
Leukocytosis |
ORPHA:228113 |
Neuroendocrine Tumor Of Stomach |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Chronic noninfectious l... |
ORPHA:100075 |
Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt... |
ORPHA:2968 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Decreased response to growth horm... |
ORPHA:293978 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Reduced orotidine 5-pr... |
OMIM:258900 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Ascites |
ORPHA:87876 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia... |
OMIM:242900 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia |
OMIM:222300 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hyperparathyroidism |
ORPHA:2668 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Hellp Syndrome |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:244242 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Iron deficiency anemia, Decreased body weight |
OMIM:607906 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... |
OMIM:240300 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Anti-Glomerular Basement Membrane Disease |
|
Anemia, Arthritis |
ORPHA:375 |
Zygomycosis |
|
Nephritis, Brain abscess, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Sinusitis, Peri... |
ORPHA:73263 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhosis, Weight loss,... |
ORPHA:465508 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co... |
ORPHA:2869 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Leukocytosis, Splenomegaly |
OMIM:615673 |
Mixed Connective Tissue Disease |
|
Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Skin rash, Myositis, Gastritis, Keratoconj... |
ORPHA:809 |
Arima Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly |
OMIM:243910 |
Generalized Pustular Psoriasis |
|
Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, Leukocytosis, Palm... |
ORPHA:247353 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated circulating hepatic transaminase concentration, Leukopenia, Cryptorchidism, Thrombocytop... |
OMIM:301056 |
B4Galt1-Cdg |
|
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Ab... |
ORPHA:79332 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly |
ORPHA:1133 |
Tangier Disease |
|
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d... |
ORPHA:31150 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocyti... |
OMIM:613990 |
Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
Retinoblastoma |
|
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... |
ORPHA:790 |
Stevens-Johnson Syndrome |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc... |
ORPHA:36426 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Ascites... |
OMIM:306400 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatic fibrosis, Failure to thrive, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis... |
OMIM:266920 |
Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... |
ORPHA:367 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Lathosterolosis |
|
Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Abnormal platelet morphology, Throm... |
ORPHA:46059 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Congenital adrenal hyperplasia, Hydrocele testis, Eczematoid dermatitis, Thrombocytopenia |
ORPHA:96181 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Conjunctivitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte... |
OMIM:263700 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... |
ORPHA:183675 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Microangiopathic hemolytic anemia, Leu... |
ORPHA:90038 |
Leptospirosis |
|
Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, Ly... |
ORPHA:509 |
Von Willebrand Disease |
|
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:903 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, H... |
OMIM:608885 |
Toxic Epidermal Necrolysis |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Panc... |
ORPHA:537 |
Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascites, Abnormal circu... |
ORPHA:79239 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
Galactokinase Deficiency |
|
Failure to thrive, Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Hep... |
ORPHA:79237 |
Solitary Rectal Ulcer Syndrome |
|
Anemia, Decreased body weight |
ORPHA:209964 |
Vipoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... |
ORPHA:97282 |
Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification... |
OMIM:607625 |
Lujo Hemorrhagic Fever |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:319213 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
Somatostatinoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... |
ORPHA:97283 |
Immunodeficiency 59 And Hypoglycemia |
|
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Prolonged ne... |
OMIM:233600 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Acute pro... |
ORPHA:77293 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:235400 |
Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Elliptocytosis 3 |
|
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... |
OMIM:617948 |
Glucagonoma |
|
Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p... |
ORPHA:97280 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Recurrent sinusitis |
OMIM:617765 |
Legius Syndrome |
|
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... |
ORPHA:137605 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthri... |
OMIM:260920 |
Gm1-Gangliosidosis, Type Ii |
|
Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Decreased beta-galactosidase activity, H... |
OMIM:230600 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Hemochromatosis, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Ascites, Splenomegaly, Cardiomegaly, Cir... |
OMIM:235200 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
OMIM:619525 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
ORPHA:100085 |
Smith-Kingsmore Syndrome |
|
Large for gestational age, Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Nephronophthisis 9 |
|
Anemia |
OMIM:613824 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Leukocytosis, Decreased body weight |
ORPHA:51890 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Anemia, Primary hyperparathyroidism |
OMIM:239200 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Leukemia, Embryonal rhabdomyosarcoma, Nephroblastoma |
OMIM:257300 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ... |
OMIM:619418 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Failure to thrive, Hilar lymph node enlargement, Cholestasis, Recurrent otitis media, Leukocytosi... |
OMIM:620233 |
Al Amyloidosis |
|
Howell-Jolly bodies, Abnormality of the liver, Elevated circulating alkaline phosphatase concentr... |
ORPHA:85443 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
Congenital Isolated Acth Deficiency |
|
Prolonged neonatal jaundice, Hepatitis |
ORPHA:199296 |
Systemic Lupus Erythematosus |
|
Discoid lupus rash, Leukopenia, Malar rash, Weight loss, Lupus nephritis, Lymphadenopathy, Thromb... |
ORPHA:536 |
Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease |
OMIM:612284 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Failure to thrive, H... |
OMIM:207900 |
Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease... |
OMIM:203800 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation |
OMIM:610688 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Eczemat... |
OMIM:301000 |
Bazex Syndrome |
|
Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm |
ORPHA:166113 |
Cryptococcosis |
|
Neoplasm, Peritonitis, Cirrhosis, Lymphoid leukemia, Mediastinal lymphadenopathy |
ORPHA:1546 |
Catastrophic Antiphospholipid Syndrome |
|
Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytopenia, Arthritis,... |
ORPHA:464343 |
Pearson Syndrome |
|
Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra... |
ORPHA:699 |
Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Squamous cell carcinoma of the skin, Neutropenia |
OMIM:620443 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Nephronophthisis 3 |
|
Hepatic fibrosis, Enlarged kidney, Failure to thrive |
OMIM:604387 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Erythema nodosum, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis |
OMIM:612387 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
ORPHA:77261 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
Multiple Myeloma |
|
Anemia, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Failure to thrive, Leukocytosis, Splenomegaly, Elevated circulating alkaline ... |
ORPHA:289157 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic ... |
OMIM:301072 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Bone Marrow Failure Syndrome 5 |
|
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level |
OMIM:618165 |
Familial Mediterranean Fever |
|
Erysipelas, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Arthritis, Neutro... |
OMIM:249100 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Nephritis, Biliary cirrhosis, Abnormality of body weight, Leukopenia, Skin rash, Polyc... |
ORPHA:2298 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly |
ORPHA:30 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Ascites, Chronic noninfectious ... |
ORPHA:100086 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Skin rash, Increased inflammatory response, Myositis, Eosinophilia, Myocarditis, Weight loss, Art... |
ORPHA:183 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino... |
OMIM:614582 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancre... |
OMIM:616263 |
Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
Cogan Syndrome |
|
Keratitis, Episcleritis, Leukocytosis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt... |
ORPHA:1467 |
Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... |
ORPHA:42 |
Snakebite Envenomation |
|
Hypopituitarism, Thrombocytopenia |
ORPHA:449285 |
Typhoid |
|
Hepatomegaly, Skin rash, Splenomegaly, Infectious encephalitis |
ORPHA:99745 |
Poikiloderma With Neutropenia |
|
Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ... |
OMIM:604173 |
Insulin Autoimmune Syndrome |
|
Weight loss, Arthralgia/arthritis |
ORPHA:411593 |
Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Anemia, Diffuse hepatic steatosis |
ORPHA:436271 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis |
OMIM:263210 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
Lysinuric Protein Intolerance |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l... |
ORPHA:470 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Decreased liver function |
OMIM:618835 |
High Altitude Pulmonary Edema |
|
Leukocytosis |
ORPHA:330012 |
Rh-Null, Regulator Type |
|
Jaundice, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Decreased liver function |
OMIM:618839 |
Dubowitz Syndrome |
|
Lymphoma, Neoplasm, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic leu... |
ORPHA:235 |
Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Hepatomegaly, Ascites |
ORPHA:90308 |
Osteopetrosis, Autosomal Recessive 9 |
|
Anemia, Hyperparathyroidism, Elevated circulating alkaline phosphatase concentration |
OMIM:620366 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... |
ORPHA:44890 |
Neutrophilic Dermatosis, Acute Febrile |
|
Anemia, Cystic acne, Panniculitis, Acne inversa |
OMIM:608068 |
Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Splenomegaly, Hepatomeg... |
ORPHA:1775 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Decreased methionine synthase act... |
OMIM:277400 |
Ogden Syndrome |
|
Polycythemia, Microvesicular hepatic steatosis, Cardiomegaly, Iron deficiency anemia, Thrombocyto... |
OMIM:300855 |
Reynolds Syndrome |
|
Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphope... |
OMIM:613471 |
American Trypanosomiasis |
|
Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Hepatomegaly |
ORPHA:3386 |
Ileal Neuroendocrine Tumor |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia,... |
ORPHA:100078 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Cachexia |
OMIM:175500 |
Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Anemia, Obesity, Thrombocytopenia |
OMIM:620072 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis |
OMIM:614091 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Decreased body weight, Thrombocytopenia, Hepatomegaly, Decreased hemoglobin conce... |
OMIM:619005 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Recon Progeroid Syndrome |
|
Anemia, Keratoconjunctivitis sicca, Thrombocytopenia |
OMIM:620370 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat... |
OMIM:105600 |
Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Decreased beta-galactosidase activity |
OMIM:230500 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Thrombocytopenia, Hepatomegaly, H... |
ORPHA:79330 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Failure to thrive, Leukocytosis, Pancolitis, Eosinophilic infiltration of the... |
OMIM:618213 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Failure to thrive in infancy, Cryptorchidism, Left ventricular hypertrophy, Thro... |
OMIM:611209 |
Granulomatosis With Polyangiitis |
|
Keratitis, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis m... |
OMIM:608710 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia |
OMIM:619433 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... |
ORPHA:415 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis |
OMIM:615947 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
Holocarboxylase Synthetase Deficiency |
|
Skin rash, Thrombocytopenia, Reduced holocarboxylase synthetase activity in cultured fibroblasts |
OMIM:253270 |
Hatipoglu Immunodeficiency Syndrome |
|
Atopic dermatitis, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Pancytopenia... |
OMIM:620331 |
Sarcoidosis |
|
Abnormal lymph node morphology, Weight loss, Erythema nodosum, Hepatomegaly, Tubulointerstitial n... |
ORPHA:797 |
Acute Liver Failure |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... |
ORPHA:90062 |
Mosaic Variegated Aneuploidy Syndrome |
|
Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis... |
ORPHA:1052 |
Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Leukopenia, Abnormal circulating en... |
ORPHA:2785 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Anemia, Increased hepatocellular lipid... |
OMIM:220110 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... |
OMIM:618528 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Splenomegaly |
OMIM:613563 |
Tyrosinemia, Type I |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asci... |
OMIM:276700 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Leukocytosis, Acute infectious pneumonia, Neutrophilia |
ORPHA:36238 |
Aceruloplasminemia |
|
Anemia |
OMIM:604290 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red... |
OMIM:232220 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyel... |
ORPHA:171876 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F |
OMIM:619769 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Bronchiectasis, Hypochromic microcytic anemia, Crohn's disease |
OMIM:619632 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hepatomegaly, Neutropenia |
OMIM:251900 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Recurrent otitis media, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Thrombocytopenia, Anemia |
OMIM:620654 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy |
ORPHA:1332 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Splenomegaly |
OMIM:252900 |
Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent otitis media, Autoimmune hemolytic anemia, Sinusitis, Thrombocytop... |
OMIM:251260 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Recurrent otitis media, Failure to thrive in infancy, Hypoplastic nipples, Thrombocytopenia, Anemia |
ORPHA:261323 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Neonatal death |
OMIM:602199 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Eczematoid dermatitis, Congenital thrombocytopenia, Intermittent ... |
OMIM:313900 |
Congenital Erythropoietic Porphyria |
|
Seborrhoeic blepharitis, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisoc... |
ORPHA:79277 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Obesity, Biliary tract abnormality, Left ventricular hypertrophy, Truncal obesi... |
OMIM:209900 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Hypocomplementemic Urticarial Vasculitis |
|
Ascites, Episcleritis, Splenomegaly, Skin rash, Inflammatory abnormality of the eye, Lymphadenopa... |
ORPHA:36412 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr... |
ORPHA:449395 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Aplastic anemia, Lymphoma, Decreased circulating IgA level, Neur... |
OMIM:223370 |
Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Megaloblastic anemia |
OMIM:618882 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c... |
OMIM:208500 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Peritonitis, Weight loss |
ORPHA:168811 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia, Abnormality of the pancreas |
ORPHA:935 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... |
ORPHA:100080 |
Scrub Typhus |
|
Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Anterior uveitis |
ORPHA:83317 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Tangier Disease |
|
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly |
OMIM:205400 |
Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Skin rash, Keratoconjunctivitis s... |
ORPHA:79128 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Increased circulating lactate dehydrogenase concentration, Pancytopenia, Leukopenia, Erythroid hy... |
ORPHA:447 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Genera... |
OMIM:181000 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... |
OMIM:605479 |
Gaucher Disease, Type Iiic |
|
Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231005 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Mednik Syndrome |
|
Cholestasis, Hepatic fibrosis, Cirrhosis |
OMIM:609313 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Keratitis, Failure to thrive, Microcytic anemia, Recurrent otitis media, Leu... |
ORPHA:99843 |
Scheie Syndrome |
|
Hepatomegaly, Rhinitis, Splenomegaly |
ORPHA:93474 |
Pachydermoperiostosis |
|
Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Hepatomegaly, Seborrheic dermatitis, Elevated... |
ORPHA:2796 |
Argininemia |
|
Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hepatomegaly, Reduced erythrocyte arginase ... |
OMIM:207800 |
Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia |
OMIM:616457 |
Fanconi Anemia, Complementation Group R |
|
Anemia, Bone marrow hypocellularity |
OMIM:617244 |
Noonan Syndrome 4 |
|
Large for gestational age, Cryptorchidism, Thrombocytopenia |
OMIM:610733 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Perito... |
ORPHA:32960 |
Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
Carney Triad |
|
Adrenocortical adenoma, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma,... |
ORPHA:139411 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Ascites |
OMIM:269860 |
Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym... |
ORPHA:99827 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated gamma-glutamyltransferase level, Failure to thrive, Elevated circulating aspartate amino... |
OMIM:615595 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hepatic steatosi... |
ORPHA:98907 |
Corticosteroid-Binding Globulin Deficiency |
|
Anemia |
OMIM:611489 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, Keratoconjunctivitis sicc... |
ORPHA:309031 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:600649 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Decreased testicular size, Splenomegaly, Low alkaline phosphatase, Hepatomegaly |
OMIM:201100 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia |
OMIM:600376 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Hepatomegaly, Recurrent pneumonia, Splenomegaly |
OMIM:612301 |
Alg12-Cdg |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... |
ORPHA:79324 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,... |
OMIM:266600 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Conjunctiv... |
ORPHA:505248 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatous colonic poly... |
ORPHA:329971 |
Urachal Cyst |
|
Abdominal mass, Peritonitis, Leukocytosis, Abscess |
ORPHA:488 |
16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Increased mean corpuscular volume, Chronic otitis media, Thrombocytopenia |
ORPHA:261250 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss |
ORPHA:85447 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... |
OMIM:105650 |
Sialuria |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... |
ORPHA:3166 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echogenicity, He... |
OMIM:619991 |
Sandifer Syndrome |
|
Anemia, Esophagitis |
ORPHA:71272 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
Erythrokeratodermia Variabilis |
|
Weight loss, Skin rash, Abnormal testis morphology |
ORPHA:317 |
Gm1 Gangliosidosis |
|
Failure to thrive, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephaliti... |
ORPHA:354 |
Noonan Syndrome |
|
Juvenile myelomonocytic leukemia, Abnormality of the spleen, Abnormality of the lymphatic system,... |
ORPHA:648 |
Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena... |
ORPHA:157794 |
Camurati-Engelmann Disease |
|
Slender build, Leukopenia, Splenomegaly, Hepatomegaly, Elevated circulating aldolase concentratio... |
ORPHA:1328 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Weight loss, Anemia, Retroperitoneal fibrosis |
ORPHA:35687 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Cheilitis, Hepatitis |
ORPHA:1334 |
Noonan Syndrome 2 |
|
Leukemia, Acute lymphoblastic leukemia |
OMIM:605275 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Congenital Disorder Of Deglycosylation 1 |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decrease... |
OMIM:615273 |
Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Weight loss |
ORPHA:98897 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Hepatic failure, Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly |
ORPHA:97287 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhosis, Jaundice, Fulminant hepatitis |
OMIM:215600 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Sple... |
ORPHA:565612 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy |
ORPHA:99868 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess |
OMIM:116920 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:94093 |
Attrv122I Amyloidosis |
|
Anemia, Left ventricular hypertrophy, Cardiomegaly |
ORPHA:85451 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Thrombocytopenia |
OMIM:619743 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... |
ORPHA:100082 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Nephritis, Thrombocytopenia |
OMIM:301050 |
Deeah Syndrome |
|
Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation test, Panhypo... |
OMIM:619004 |
Joubert Syndrome 1 |
|
Hepatic fibrosis |
OMIM:213300 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate aminotrans... |
OMIM:246450 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Parotitis, Microcytic... |
OMIM:256040 |
Familial Mediterranean Fever |
|
Erysipelas, Ascites, Acute hepatic failure, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Peri... |
ORPHA:342 |
Periodic Fever, Familial, Autosomal Dominant |
|
Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy, Skin rash, Myositis, Oligoarthritis, H... |
OMIM:142680 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
ORPHA:247598 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Uveitis, Elevated circulating hepatic transaminase concent... |
ORPHA:99826 |
Tick-Borne Encephalitis |
|
Myelitis, Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Thro... |
ORPHA:297 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Biliary cirrhosis, Failure to thrive,... |
OMIM:619534 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Failure to thrive, Superficial derm... |
ORPHA:83617 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ... |
ORPHA:79078 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
17Q11 Microdeletion Syndrome |
|
Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro... |
ORPHA:97685 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Lymphoma |
ORPHA:2526 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Decreased body ... |
ORPHA:340 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
OMIM:124000 |
Lead Poisoning |
|
Anemia, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology |
ORPHA:330015 |
Ellis Van Creveld Syndrome |
|
Acute leukemia |
ORPHA:289 |
Meckel Syndrome 14 |
|
Hepatic fibrosis |
OMIM:619879 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Brain abscess, Leukocytosis, Pancreatitis, Thrombocytopenia, Myocarditis, Septic arthr... |
ORPHA:544482 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly |
OMIM:616028 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Cryptorchidism |
OMIM:618440 |
Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom... |
ORPHA:97289 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Failure to thrive, Ulcerative colitis, Abnorm... |
ORPHA:79259 |
Meckel Syndrome |
|
Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C... |
ORPHA:564 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Bronchiectasis, Lymphadenopathy |
ORPHA:411703 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid arthritis, Psoriasiform dermatitis, Hashimoto thyroiditis, Weight l... |
ORPHA:49041 |
Yellow Fever |
|
Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Leukocytos... |
ORPHA:99829 |
Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
Mucopolysaccharidosis Type 6 |
|
Chronic otitis media, Splenomegaly, Failure to thrive, Sinusitis |
ORPHA:583 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Biotinidase Deficiency |
|
Skin rash, Splenomegaly, Seborrheic dermatitis, Decreased circulating biotinidase concentration, ... |
OMIM:253260 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Cirrhosis, Anemia |
OMIM:187300 |
Cranioectodermal Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hepat... |
OMIM:218330 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia, Myelodysplasia |
OMIM:617827 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Jaundice, Stomatitis |
ORPHA:79282 |
Osteosarcoma |
|
Abnormal circulating lactate dehydrogenase concentration, Weight loss, Increased circulating lact... |
ORPHA:668 |
Acute Disseminated Encephalomyelitis |
|
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis |
ORPHA:83597 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Polymyositis |
|
Elevated circulating aldolase concentration, Weight loss, Arthritis, Hepatomegaly, Pericarditis |
ORPHA:732 |
Diamond-Blackfan Anemia 10 |
|
Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia |
OMIM:613309 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia |
OMIM:609942 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acute lymphoblastic ... |
OMIM:280000 |
Johanson-Blizzard Syndrome |
|
Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase l... |
OMIM:243800 |
Chime Syndrome |
|
Acute leukemia |
ORPHA:3474 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth hormone stimulation... |
OMIM:602782 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Cryptorchidism |
ORPHA:251066 |
Bcard Syndrome |
|
Thrombocytopenia |
OMIM:612394 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:612199 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Abnormal circulating enzyme concentration or activity, Thrombocytopenia |
ORPHA:572798 |
Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... |
ORPHA:728 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy |
ORPHA:2221 |
Atelis Syndrome 2 |
|
Anemia, Thrombocytopenia |
OMIM:620185 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Failure to thr... |
OMIM:256810 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Myeloproliferative disorder, Neoplasm |
ORPHA:70591 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss, Elevated circulating alkaline phosphatase concentration |
ORPHA:330001 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ... |
OMIM:261680 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
Fucosidosis |
|
Failure to thrive, Reduced circulating alpha-L-fucosidase activity, Splenomegaly, Cardiomegaly, H... |
OMIM:230000 |
Down Syndrome |
|
Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca, Neonatal death |
OMIM:615709 |
Takenouchi-Kosaki Syndrome |
|
Cryptorchidism, Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology |
ORPHA:677 |
Poland Syndrome |
|
Abnormality of the liver, Neoplasm of the breast, Retinal hamartoma, Acute leukemia |
ORPHA:2911 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr... |
OMIM:618223 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Seborrheic dermatitis, Thrombocytopenia, Anemia, ... |
OMIM:274000 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Psoriasiform dermatitis, Decreased proportion of CD4-positive ... |
ORPHA:221139 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Ascites, Abnormality of the liver, Thrombocytopenia |
ORPHA:464321 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Punctate keratitis, Weight loss, Arthritis |
ORPHA:92050 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Ependymoma, Teratoma, Nephroblastoma, Facial hemangioma, Hepatoblastoma, Myeloi... |
ORPHA:798 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Skin rash, Splenomegaly |
ORPHA:53715 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Decreased liver function, Thrombocytopenia |
OMIM:620423 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Capillary hemangioma, Neoplasm, Leukemia, Hepatic hemangioma, Papillary cystade... |
OMIM:180849 |
Nephronophthisis 1 |
|
Anemia |
OMIM:256100 |
Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss... |
OMIM:617321 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Enterocolitis, Weight loss, Failure to thrive |
ORPHA:95427 |
Granulomatosis With Polyangiitis |
|
Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Weight loss, Pancreatitis,... |
ORPHA:900 |
Addison Disease |
|
Normocytic anemia, Thymoma, Failure to thrive, Thiamine-responsive megaloblastic anemia, Hashimot... |
ORPHA:85138 |
Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... |
ORPHA:48435 |
Graves Disease |
|
Weight loss, Abnormal abdomen morphology, Goiter |
OMIM:275000 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... |
OMIM:610717 |
Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Pancreatic cysts, Hepatic cysts |
OMIM:311200 |
Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep... |
OMIM:219700 |
Behçet Disease |
|
Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increased inflammatory resp... |
ORPHA:117 |
Fanconi-Bickel Syndrome |
|
Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Absent gallbladder, Cryptorchidism, Thrombocytopenia |
ORPHA:163979 |
Central Diabetes Insipidus |
|
Weight loss, Failure to thrive |
ORPHA:178029 |
Juvenile Polyposis Syndrome |
|
Duodenal adenocarcinoma, Multiple gastric polyps, Anemia, Neoplasm of the stomach, Colon cancer |
OMIM:174900 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Cryptorc... |
ORPHA:1655 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:99228 |
Monosomy X |
|
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:99226 |
Turner Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... |
ORPHA:881 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:3208 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Abnormality of thrombocytes, Neutropenia |
ORPHA:79430 |
Arteriosclerosis, Severe Juvenile |
|
Anemia |
OMIM:208060 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Lymphadenopathy, Goiter |
ORPHA:142 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Pancreatic fibrosis |
OMIM:263520 |
Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Lymphatic Malformation 7 |
|
Anemia, Ascites |
OMIM:617300 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Weight loss, Failure to thrive |
ORPHA:95409 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... |
ORPHA:103918 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:605911 |
Jacobsen Syndrome |
|
Failure to thrive, Annular pancreas, Cryptorchidism, Thrombocytopenia |
OMIM:147791 |
Digeorge Syndrome |
|
Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Recurrent otitis media, Obesity, Hep... |
OMIM:188400 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Neonatal death |
OMIM:619362 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Nocardiosis |
|
Pneumonia, Lymphadenitis, Brain abscess, Cutaneous abscess, Keratitis, Osteomyelitis, Infectious ... |
ORPHA:31204 |
Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas... |
ORPHA:97278 |
Solitary Fibrous Tumor |
|
Neoplasm of the liver, Weight loss, Abnormal peritoneum morphology, Pelvic mass |
ORPHA:2126 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Mcdonough Syndrome |
|
Cachexia, Cryptorchidism |
ORPHA:2471 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Erythroderma |
ORPHA:312 |
Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas... |
ORPHA:97261 |
Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Cyclic neutropenia, Chronic pancreatitis, Gout, Hepatoblasto... |
OMIM:232240 |
Giant Cell Arteritis |
|
Hepatic failure, Abnormality of thrombocytes, Weight loss, Arthritis, Mediastinal lymphadenopathy... |
ORPHA:397 |
Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Cachexia, Bronchiectasis |
ORPHA:60033 |
Juvenile Polyposis Of Infancy |
|
Anemia, Cachexia, Refractory anemia |
ORPHA:79076 |
Alg9-Cdg |
|
Hepatomegaly, Periportal fibrosis, Enlarged kidney, Hepatic cysts |
ORPHA:79328 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Huntington Disease |
|
Weight loss, Decreased body mass index |
ORPHA:399 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Failure to thrive |
OMIM:143880 |
Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Erythroid hyperplasia, Abnormal circulating enzyme concentration or acti... |
ORPHA:95159 |
Primary Hyperoxaluria Type 1 |
|
Anemia, Failure to thrive |
ORPHA:93598 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Cryptorchidism, Weight loss, Thrombocytopenia, Abnormal tes... |
ORPHA:84 |
Blau Syndrome |
|
Posterior uveitis, Keratitis, Abnormality of the liver, Splenomegaly, Skin rash, Synovitis, Irido... |
ORPHA:90340 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Splenomegaly, Failure to thrive |
OMIM:612132 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Small for gestational age, Hypoparathyroidism |
OMIM:127000 |
Mucolipidosis Type Ii |
|
Hepatosplenomegaly, Splenomegaly, Otitis media, Left ventricular hypertrophy, Weight loss |
ORPHA:576 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis |
ORPHA:703 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Autosomal Recessive Malignant Osteopetrosis |
|
Otitis media, Splenomegaly, Chronic rhinitis, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:667 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Neoplasm of the thymus, P... |
ORPHA:99889 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
ORPHA:110 |
Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Cap Polyposis |
|
Atrophic gastritis, Weight loss |
ORPHA:160148 |
Choreoacanthocytosis |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... |
ORPHA:2388 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration, Increase... |
ORPHA:221 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Pemphigus Vulgaris |
|
Weight loss, Recurrent cutaneous abscess formation |
ORPHA:704 |
Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
Hennekam Syndrome |
|
Erysipelas, Ascites, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymp... |
ORPHA:2136 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Gout, Tubulointerstitial nephritis |
OMIM:174000 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S... |
ORPHA:91500 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Skin rash |
OMIM:601979 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Renpenning Syndrome |
|
Decreased testicular size, Cachexia |
ORPHA:3242 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys... |
OMIM:269700 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Abnormality of the lymphatic system, Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Otitis media, Cryptorchidism, Hypoplastic nipples, Thrombocytopenia, Duplication of in... |
OMIM:122470 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Polyarteritis Nodosa |
|
Weight loss, Pericarditis |
ORPHA:767 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss, Bronchiectasis |
ORPHA:79127 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia |
ORPHA:216866 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Abnormality of thrombocytes, Failure to thrive, Obesity, Splenomegaly, Cryptorchi... |
ORPHA:567 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Occipital Horn Syndrome |
|
Cholestasis, Jaundice, Esophagitis, Hepatitis |
ORPHA:198 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Leukocytosis, Hepatic steatosis, Hypoplasia of the ovary, Abdominal ob... |
OMIM:619321 |
Jacobsen Syndrome |
|
Bone marrow hypocellularity, Annular pancreas, Eczematoid dermatitis, Cryptorchidism, Thrombocyto... |
ORPHA:2308 |
Chronic Graft Versus Host Disease |
|
Elevated circulating hepatic transaminase concentration, Urinary bladder inflammation, Fasciitis,... |
ORPHA:99921 |
Alström Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Eleva... |
ORPHA:64 |
Tropical Endomyocardial Fibrosis |
|
Ascites, Splenomegaly, Cardiomegaly, Eosinophilia, Cachexia, Hepatomegaly |
ORPHA:75565 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma |
OMIM:612918 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Familial Colorectal Cancer Type X |
|
Pancreatic adenocarcinoma, Weight loss, Neoplasm of the pancreas, Hepatocellular carcinoma |
ORPHA:440437 |
Exercise-Induced Malignant Hyperthermia |
|
Hepatic failure, Decreased liver function, Thrombocytopenia |
ORPHA:466650 |
Cystinosis, Nephropathic |
|
Failure to thrive, Failure to thrive in infancy, Exocrine pancreatic insufficiency, Splenomegaly,... |
OMIM:219800 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformati... |
OMIM:175050 |
African Trypanosomiasis |
|
Myelitis, Keratitis, Conjunctivitis, Hepatosplenomegaly, Splenomegaly, Optic neuritis, Weight los... |
ORPHA:3385 |
Goodpasture Syndrome |
|
Anemia, Weight loss, Glomerulonephritis |
OMIM:233450 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos... |
OMIM:608594 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Periodontitis, Failure to thrive, Cryptorchidism, Arthritis, Thrombocytopeni... |
ORPHA:534 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Goiter |
OMIM:188580 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Xfe Progeroid Syndrome |
|
Ascites, Cachexia, Elevated circulating hepatic transaminase concentration, Failure to thrive |
OMIM:610965 |
Malignant Atrophic Papulosis |
|
Peritonitis, Arteritis, Weight loss |
ORPHA:679 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Pustule, Weight loss, Conjunctivitis, Cheilitis, Blepharitis |
ORPHA:37 |
Rheumatoid Arthritis |
|
Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Goiter |
OMIM:613239 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Generalized... |
ORPHA:420741 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Roberts Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:3103 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Sotos Syndrome |
|
Small cell lung carcinoma, Neoplasm, Cholesteatoma, Astrocytoma, Hemangioma, Neuroblastoma, Prolo... |
ORPHA:821 |
Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia, Black pigment gallstones |
ORPHA:56 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary adenoma, Pituitary prolactin cell adenoma, Pituitary growth hormon... |
ORPHA:913 |
Aspartylglucosaminuria |
|
Reduced tissue aspartylglucosaminidase activity, Neutropenia, Hepatomegaly, Vacuolated lymphocyte... |
OMIM:208400 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Pmm2-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asp... |
ORPHA:79318 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Cryptorchidism, Failure to thrive, Supernumerary nipple |
ORPHA:217346 |
Plague |
|
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Splenomegaly, Skin rash, Inflamm... |
ORPHA:707 |
Infantile Krabbe Disease |
|
Cachexia, Abnormal circulating enzyme concentration or activity, Failure to thrive |
ORPHA:206436 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss, Cryptorchidism |
ORPHA:251071 |
Reactive Arthritis |
|
Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Weigh... |
ORPHA:29207 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of the face, Lymph... |
ORPHA:99646 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Reduced tissue thymidine phosphorylase activity, Weight loss |
OMIM:603041 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Decreased testicular size, Obesity, Cryptorchidism, Cachexia |
ORPHA:813 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Failure to thrive, Cryptorchidism, Weight loss, Testicular adrenal rest tumor |
ORPHA:361 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Reduced pancreatic beta cells, Weight loss, Pancreatic hypoplasia, Failure to thrive |
ORPHA:99885 |
Cockayne Syndrome |
|
Elevated circulating hepatic transaminase concentration, Malar rash, Splenomegaly, Cryptorchidism... |
ORPHA:191 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss, Increased circulating lactate dehydrogenase concentration |
ORPHA:747 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma |
ORPHA:276621 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Weight loss, Bronchiectasis |
ORPHA:60025 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Keratitis, Failure to thrive, Aspiration pneumonia |
ORPHA:1018 |
Osteogenesis Imperfecta |
|
Osteoarthritis, Small for gestational age, Thrombocytopenia |
ORPHA:666 |
Adrenocortical Carcinoma |
|
Increased body weight, Adrenocorticotropic hormone deficiency, Weight loss |
ORPHA:1501 |
Juvenile Dermatomyositis |
|
Skin rash, Myositis, Weight loss, Arthritis, Pericarditis |
ORPHA:93672 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Lynch Syndrome |
|
Pancreatic adenocarcinoma, Neoplasm of the liver, Weight loss, Neoplasm of the pancreas, Hepatoce... |
ORPHA:144 |
X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Cachexia, Obesity |
ORPHA:85293 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Parathyroid Carcinoma |
|
Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Weight loss, P... |
ORPHA:143 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma |
ORPHA:29072 |
Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Pituitary adenoma, Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma... |
ORPHA:652 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:803 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Familial Gestational Hyperthyroidism |
|
Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:99819 |
Proteus Syndrome |
|
Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, Cachexia, ... |
ORPHA:744 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Hashimoto thyroiditis, Cachexia |
ORPHA:109 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis |
ORPHA:93271 |
Tsh-Secreting Pituitary Adenoma |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Goiter, Adren... |
ORPHA:91347 |
Schwartz-Jampel Syndrome |
|
Decreased testicular size, Decreased body weight, Elevated circulating aldolase concentration, Ca... |
ORPHA:800 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Skin rash |
ORPHA:220295 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Congenital Fiber-Type Disproportion Myopathy |
|
Weight loss, Failure to thrive, Aspiration pneumonia |
ORPHA:2020 |
Trisomy 18 |
|
Cachexia, Cryptorchidism |
ORPHA:3380 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Decreased testicular size, Weight loss, Testicular adrenal rest tumor, Acne |
ORPHA:90794 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss, Osteoarthritis |
ORPHA:740 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Stickler Syndrome |
|
Slender build, Cachexia, Osteoarthritis, Chronic otitis media, Uveitis |
ORPHA:828 |
Marfan Syndrome |
|
Slender build, Cachexia, Arthralgia/arthritis |
ORPHA:558 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Norrie Disease |
|
Cachexia, Cryptorchidism, Failure to thrive |
ORPHA:649 |