| Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
| Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
| Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
| Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
| Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation |
OMIM:131440 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... |
OMIM:153600 |
| Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
| Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent infections, Lymphoma, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Fol... |
OMIM:614470 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia |
OMIM:620400 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia |
OMIM:252270 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis |
OMIM:246470 |
| 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 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Trimethylaminuria |
|
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti... |
OMIM:202700 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... |
ORPHA:231401 |
| Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
| Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... |
OMIM:616022 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Glioma Susceptibility 3 |
|
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... |
OMIM:613029 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... |
OMIM:614172 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... |
OMIM:310350 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Whim Syndrome 2 |
|
Severe infection, Recurrent gingivitis, Chronic neutropenia |
OMIM:619407 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Myeloperoxidase Deficiency |
|
Diminished neutrophil myeloperoxidase activity |
OMIM:254600 |
| Immunodeficiency 53 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... |
OMIM:617585 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts |
OMIM:182170 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Chronic myelomonocytic leukemia, Acute myeloid leukemia |
OMIM:616604 |
| Immunodeficiency 50 |
|
Lymphopenia, Recurrent respiratory infections, Neutropenia, Recurrent urinary tract infections |
OMIM:300988 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag... |
ORPHA:2585 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp... |
OMIM:616871 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... |
ORPHA:158057 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Immunodeficiency 46 |
|
Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening... |
OMIM:616740 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract... |
OMIM:619523 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Neutrophilia, Hereditary |
|
Myelodysplasia, Splenomegaly, Neutrophilia |
OMIM:162830 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Leukemia, Chronic Myeloid |
|
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia |
OMIM:608232 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia |
OMIM:610738 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... |
OMIM:603552 |
| 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 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoi... |
OMIM:619220 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neutropenia, Abnormal T... |
OMIM:613501 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent viral infections, Pancytopenia, Recurrent fungal infections, B lymphocytopenia, Recurre... |
OMIM:616873 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Elevated hepatic iron concentrat... |
ORPHA:300298 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Recurrent infe... |
OMIM:229050 |
| Immunodeficiency 7 |
|
Severe varicella zoster infection, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoi... |
OMIM:615387 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Enlarged tonsils, Leukocytosis |
ORPHA:168621 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
| Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia |
OMIM:131400 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Verrucae, Recurrent viral infections, Recurrent pne... |
OMIM:614868 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Essential Thrombocythemia |
|
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... |
ORPHA:3318 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Recurrent respiratory infections, Neutropenia, Abnormal T cell... |
OMIM:615214 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent viral infections, Aplastic anemia, Lymphopenia, Myelodysplasia, Recurrent infection of ... |
ORPHA:486 |
| Congenital Atransferrinemia |
|
Anemia, Recurrent infections, Abnormality of the pancreas |
ORPHA:1195 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia,... |
OMIM:150550 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Persistent CMV viremia, Recurrent viral infections, Lymphoma, Recurrent respiratory infections, R... |
OMIM:300853 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
| Immunodeficiency 69 |
|
Hemophagocytosis, BCGitis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, BCGosis,... |
OMIM:618963 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia, Abnormal B cell... |
OMIM:308240 |
| Lymphedema, Primary, With Myelodysplasia |
|
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia |
OMIM:614038 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... |
OMIM:615234 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Primary Erythromelalgia |
|
Leukemia, Recurrent respiratory infections, Abnormality of thrombocytes |
ORPHA:90026 |
| Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea... |
ORPHA:98827 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Myelod... |
OMIM:619151 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Recurrent viral infections, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired... |
OMIM:617443 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... |
OMIM:300835 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... |
ORPHA:444463 |
| Aggressive Systemic Mastocytosis |
|
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... |
ORPHA:98850 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor... |
OMIM:619824 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr... |
OMIM:617475 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma |
OMIM:615593 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ... |
OMIM:614742 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Leukemia, Pancytopenia, Aplastic anemia, Myeloid leukemia |
OMIM:614743 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... |
OMIM:245480 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency 84 |
|
Splenomegaly, B-cell lymphoma, Perianal abscess, B lymphocytopenia, Recurrent bacterial infection... |
OMIM:619437 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Hemophagocytosis, Agranulocytosis,... |
OMIM:301078 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
| N Syndrome |
|
Leukemia, Neoplasm |
OMIM:310465 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen... |
ORPHA:98849 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Abnormal T cell morphology, Recurrent b... |
OMIM:613502 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Chronic infection, Leukocytosis, A... |
ORPHA:86839 |
| Pelger-Huet Anomaly |
|
Giant platelets, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Thrombocytopenia,... |
OMIM:169400 |
| Immunodeficiency 52 |
|
Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop... |
OMIM:617514 |
| Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Verrucae, Neutropenia |
OMIM:193670 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis |
OMIM:616457 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, ... |
OMIM:616005 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Sepsis, Lymphadenitis,... |
OMIM:618986 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections |
OMIM:300299 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia, Myelodysplasia |
OMIM:185050 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Rothmund-Thomson Syndrome, Type 3 |
|
Anemia, Recurrent infections, Anisopoikilocytosis |
OMIM:615789 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Lymphoma, Recurrent urinary tract infec... |
ORPHA:47612 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
| Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... |
ORPHA:169154 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
| Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Cirrhosis, Neutropenia |
OMIM:604250 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat... |
OMIM:601775 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Recurrent sinusitis, Absent circulating B cells, Meningitis, Recurrent res... |
OMIM:619707 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent respirato... |
OMIM:607616 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... |
ORPHA:2688 |
| Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Recurrent infections, Neutropenia |
OMIM:617056 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
| Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anem... |
ORPHA:88 |
| Immunodeficiency 104 |
|
Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections, Recurrent... |
OMIM:608971 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Lymphopenia, Recurrent bacterial infections, Thrombocytopenia, B lymp... |
ORPHA:169079 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent ... |
ORPHA:572 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia, Recurrent bacterial infections |
ORPHA:86788 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Recurrent infections, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
| Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocyti... |
OMIM:617780 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Invasive par... |
ORPHA:158048 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Immunodeficiency 32B |
|
BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Splenomegaly, Hepatomegaly, ... |
OMIM:226990 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Sepsis, Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology... |
OMIM:612840 |
| Alpha-Heavy Chain Disease |
|
Lymphoma, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B-cell lymphoma, Lymphad... |
OMIM:619164 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent infections, Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Lymphoma, S... |
OMIM:615122 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Neutropenia, Schistoc... |
OMIM:301110 |
| Lymphoproliferative Syndrome 1 |
|
Recurrent infections, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-pos... |
OMIM:613011 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Cutaneous Neuroendocrine Carcinoma |
|
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop... |
ORPHA:79140 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Tumor Predisposition Syndrome 2 |
|
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... |
OMIM:619975 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Severe infection, Coombs-positi... |
OMIM:304790 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Elliptocytosis 3 |
|
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... |
OMIM:617948 |
| Reticular Dysgenesis |
|
Sepsis, Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Leukopenia, Anemia, A... |
ORPHA:33355 |
| Gray Platelet Syndrome |
|
Myelodysplasia, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Sepsis, Hepatitis, Neoplasm, Abnormality of the lymphatic system, Abnormalit... |
ORPHA:47 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:36913 |
| Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recurrent bronc... |
OMIM:607594 |
| Immunodeficiency 48 |
|
Pneumocystis carinii pneumonia, Recurrent candida infections, Abnormal B cell count, Splenomegaly... |
OMIM:269840 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti... |
ORPHA:231154 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Mantle Cell Lymphoma |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... |
ORPHA:288 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
| Lathosterolosis |
|
Intrahepatic cholestasis, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis, He... |
ORPHA:46059 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:601859 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Lymphopenia, Recurrent infections, Squamous cell carcinoma of the skin, Neutropenia |
OMIM:620443 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... |
OMIM:619375 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr... |
ORPHA:99867 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias |
OMIM:605724 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... |
OMIM:209920 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Pneumocystis carinii pneumonia, Sepsis, Absence of lymph node germinal center, Hepatitis, Chronic... |
OMIM:308230 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Recurrent sinusitis, Hodgkin lymphoma, Absent circulating B cells, Ge... |
OMIM:620282 |
| Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration |
|
Acanthocytosis |
OMIM:607236 |
| Fetal Parvovirus Syndrome |
|
Anemia, Ascites, Thrombocytopenia |
ORPHA:295 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Recurrent sy... |
OMIM:214500 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections... |
OMIM:603585 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
| Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Abnormal T cell count, Transient neutropenia, Abnormal B cel... |
OMIM:607676 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Neutropenia |
ORPHA:2643 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute... |
OMIM:260400 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Isolated Agammaglobulinemia |
|
Sepsis, Recurrent respiratory infections, Abnormal lymphocyte morphology, Abnormality of the lymp... |
ORPHA:229717 |
| Cyclic Neutropenia |
|
Recurrent tonsillitis, Sepsis, Opportunistic infection, Cervical lymphadenopathy, Lymphopenia, Cy... |
ORPHA:2686 |
| Mismatch Repair Cancer Syndrome 1 |
|
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... |
OMIM:276300 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... |
ORPHA:398124 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... |
OMIM:618534 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infections |
OMIM:618116 |
| Schnitzler Syndrome |
|
Lymphoma, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:37748 |
| Lathosterolosis |
|
Hepatic fibrosis, Intrahepatic cholestasis, Bilobate gallbladder, Anisopoikilocytosis |
OMIM:607330 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Lymphoproliferat... |
ORPHA:90033 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... |
ORPHA:158061 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... |
OMIM:619802 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
| Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ... |
ORPHA:811 |
| Immunodeficiency 115 With Autoinflammation |
|
Verrucae, Recurrent viral infections, Intestinal lymphangiectasia, Splenomegaly, Recurrent bacter... |
OMIM:620632 |
| Congenital Enterovirus Infection |
|
Fetal ascites, Sepsis, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morp... |
ORPHA:292 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent infections, Recurrent pneumonia, Sepsis, Lymphoma, Recurrent respiratory infections, Re... |
OMIM:614700 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Recurrent infections, Monoclonal immunoglobulin M proteinemia, Lymphoma, Splen... |
ORPHA:33226 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4... |
OMIM:618495 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Rh-Null, Regulator Type |
|
Jaundice, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Lymphoma, Impaired arac... |
OMIM:601399 |
| Sweet Syndrome |
|
Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplas... |
ORPHA:3243 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94089 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Chronic infection, Lymphadenopathy, Neutropenia, Thromboc... |
ORPHA:520 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... |
OMIM:616860 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... |
OMIM:209950 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Re... |
OMIM:618278 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Recurrent infections, Increased B cell count, Splenomegaly |
OMIM:616452 |
| Neonatal Alloimmune Neutropenia |
|
Sepsis, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Meningitis, Jaundice |
ORPHA:464370 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Immunodeficiency 23 |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Lymph... |
OMIM:615816 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Babesiosis |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Recurrent pharyngitis, Hepatomegaly, Jaundice, Recurr... |
ORPHA:108 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Recurrent pneumonia, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymphocyt... |
OMIM:619281 |
| Immunodeficiency, Common Variable, 2 |
|
Abnormal T cell count, Recurrent pneumonia, Lymphoma, Recurrent otitis media, Neoplasm, Splenomeg... |
OMIM:240500 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia |
OMIM:610090 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Immunodeficiency 108 With Autoinflammation |
|
Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent abscess formation |
OMIM:260570 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... |
OMIM:301310 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
| Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... |
OMIM:603909 |
| Ollier Disease |
|
Neoplasm, Lymphangioma, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral angiomat... |
ORPHA:296 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Lymphopenia, Decreased proportion of CD4-posi... |
ORPHA:443811 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume, Osteosarcoma |
ORPHA:2760 |
| Kasabach-Merritt Phenomenon |
|
Neoplasm of the skin, Microangiopathic hemolytic anemia, Capillary hemangioma, Leukopenia, Reticu... |
ORPHA:2330 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Anemia |
OMIM:618728 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
| Agammaglobulinemia, X-Linked |
|
Recurrent infections, Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrome, Recurren... |
OMIM:300755 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Oslam Syndrome |
|
Anemia, Neoplasm, Osteosarcoma |
OMIM:165660 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop... |
OMIM:612541 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... |
OMIM:206100 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent upper respiratory tract infections, Recurrent viral infections, Lymphoma, Recurrent uri... |
OMIM:613179 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Abnormality of thrombocytes |
ORPHA:3204 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Lymphopenia, Leukopeni... |
ORPHA:508542 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
| Lig4 Syndrome |
|
Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly |
ORPHA:99812 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia |
OMIM:613313 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Exocrine pancreatic insufficiency, Hepatosplenomega... |
OMIM:615952 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm... |
ORPHA:100026 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
| Autosomal Agammaglobulinemia |
|
Verrucae, Sepsis, Hepatitis, Recurrent respiratory infections, Neutropenia, Meningitis, Recurrent... |
ORPHA:33110 |
| Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen... |
OMIM:275350 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
| Propionic Acidemia |
|
Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb... |
ORPHA:729 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Subcutaneous panniculitis-like T-cell lymphoma |
OMIM:618398 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Recurre... |
OMIM:608233 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Testicular seminoma |
ORPHA:281090 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Jaundice, Megaloblastic anemia, Neutropenia |
OMIM:250940 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... |
ORPHA:79456 |
| Cartilage-Hair Hypoplasia |
|
Basal cell carcinoma, Lymphoma, Lymphopenia, Susceptibility to chickenpox, Macrocytic anemia, Imp... |
OMIM:250250 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Infectious encephalitis, Hepatomegaly,... |
ORPHA:540 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Recurrent upper respiratory tract infections, Sepsis, Lymphoma, Recurrent candida infections, Aut... |
ORPHA:436159 |
| Omenn Syndrome |
|
Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia of the thymu... |
OMIM:603554 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... |
ORPHA:54251 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Severe varicella zoster infection, Lymphoma, Recurrent otitis media, Splen... |
ORPHA:397596 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia |
ORPHA:71493 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia, Meningitis |
OMIM:607115 |
| Selective Igm Deficiency |
|
Lymphadenitis, Decreased proportion of CD8-positive T cells, Stomach cancer, Recurrent bronchitis... |
ORPHA:331235 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Sepsis, Lymphoma, Microcytic anemia, Lymphopenia,... |
ORPHA:906 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Recurrent respiratory infections, Pancytopenia, Spl... |
OMIM:300635 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder |
ORPHA:100924 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Cholesteatoma, Left ventricular hypertrophy, Thrombocytopenia, Anemia, Recurrent... |
OMIM:611209 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Reduced natural killer cell count, Recurrent upper respiratory tract infections, Recurrent pneumo... |
OMIM:619752 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen... |
OMIM:227645 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Hepatomegaly, Breast carcinoma |
ORPHA:86893 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphop... |
OMIM:618935 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... |
OMIM:619705 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Lymphadenop... |
ORPHA:507 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, Myelodysplasia, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Neoplasm, Splenomegaly, R... |
ORPHA:169090 |
| Bone Marrow Failure Syndrome 3 |
|
Recurrent infections, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular vo... |
OMIM:617052 |
| Barth Syndrome |
|
Recurrent infections in infancy and early childhood, Cyclic neutropenia, Recurrent bronchitis, Hy... |
OMIM:302060 |
| Sepsis In Premature Infants |
|
Invasive fungal infection, Leukocytosis, Splenomegaly, Hepatomegaly, Severe infection, Thrombocyt... |
ORPHA:90051 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Lig4 Syndrome |
|
Pancytopenia, Myelodysplasia, Thrombocytopenia, Recurrent respiratory infections, Acute lymphobla... |
OMIM:606593 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Leuko... |
OMIM:617303 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis |
OMIM:616084 |
| Tufted Angioma |
|
Neoplasm of the skin, Hemangioma of the lip, Facial hemangioma, Thrombocytopenia, Anemia |
ORPHA:1063 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Recurrent upper respiratory tract infections, Splenomegaly |
OMIM:620296 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th... |
ORPHA:848 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
| Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ... |
ORPHA:84064 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Recurrent otitis media, Macrocytic anemia, Neutropenia, Recurr... |
OMIM:612562 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia |
OMIM:266265 |
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
Abnormal blood phosphate concentration, Abnormal circulating calcium concentration |
OMIM:610455 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... |
OMIM:601495 |
| Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly |
ORPHA:28 |
| Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
| Omenn Syndrome |
|
Sepsis, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosin... |
ORPHA:39041 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia, Recurrent infections, Mye... |
OMIM:617827 |
| Wolcott-Rallison Syndrome |
|
Ascites, Exocrine pancreatic insufficiency, Abnormality of the liver, Lymphocytosis, Iron deficie... |
ORPHA:1667 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Neu... |
ORPHA:2169 |
| Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
| Fibrodysplasia Ossificans Progressiva |
|
Anemia |
ORPHA:337 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Splenomegaly, Ascites |
ORPHA:1046 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ... |
OMIM:617941 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Recurrent pneumonia, Cervical lymphadenopathy, Lymphocytosis, Lym... |
OMIM:617718 |
| Congenital Toxoplasmosis |
|
Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice |
ORPHA:858 |
| Mcleod Syndrome |
|
Hepatomegaly, Acanthocytosis, Splenomegaly |
OMIM:300842 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Prolonged n... |
OMIM:274150 |
| Evans Syndrome |
|
Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... |
ORPHA:1959 |
| Rhabdoid Tumor |
|
Renal neoplasm, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Sarcoma, Neopla... |
ORPHA:69077 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia, Recurren... |
OMIM:277380 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Recurrent upper respiratory tract infections, Recurrent pneumonia... |
OMIM:301000 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
| Desmoplastic Small Round Cell Tumor |
|
Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem... |
ORPHA:83469 |
| Classic Mycosis Fungoides |
|
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... |
ORPHA:2584 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Potocki-Shaffer Syndrome |
|
Anemia, Exostoses, Nephroblastoma |
ORPHA:52022 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Immunodeficiency 10 |
|
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Splenome... |
OMIM:612783 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Sandhoff Disease |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:796 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal infections, BCGosis, Hepatomeg... |
OMIM:616622 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251110 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79402 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Immunodeficiency 114, Folate-Responsive |
|
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly, Recurrent lower ... |
OMIM:620603 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Transaldolase Deficiency |
|
Anemia, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia |
ORPHA:101028 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
| Aspergillosis |
|
Unusual CNS infection, Hepatitis, Invasive pulmonary aspergillosis, Infectious encephalitis, Eosi... |
ORPHA:1163 |
| Harderoporphyria |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
| Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia |
ORPHA:2598 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Recurrent pneumonia, Neutropenia |
OMIM:620012 |
| Takenouchi-Kosaki Syndrome |
|
Recurrent infections, Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Meningitis |
OMIM:616050 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Recurrent infections, Reduced number of intrahepatic bile ducts, Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Ataxia-Telangiectasia |
|
Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count... |
OMIM:208900 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o... |
ORPHA:911 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Schimke Immuno-Osseous Dysplasia |
|
Recurrent infections, Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Lymp... |
ORPHA:1830 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Trichothiodystrophy 3, Photosensitive |
|
Neoplasm of the skin, Lymphopenia, Abdominal adhesions, Neutropenia, Recurrent infections |
OMIM:616395 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Recurrent viral infections, Recurrent respiratory infections, ... |
OMIM:609981 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia |
OMIM:608885 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:172 |
| Cinca Syndrome |
|
Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, M... |
ORPHA:1451 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:251100 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurrent streptococca... |
ORPHA:167 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Severe viral infection, Hepatosplenomegaly, ... |
OMIM:619644 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurren... |
OMIM:620210 |
| Tularemia |
|
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... |
ORPHA:3392 |
| Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
| Onychotrichodysplasia And Neutropenia |
|
Recurrent infections, Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Pyoderma Gangrenosum |
|
Myelodysplasia, Myeloid leukemia |
ORPHA:48104 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
OMIM:235400 |
| Diamond-Blackfan Anemia |
|
Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu... |
ORPHA:124 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly |
OMIM:251000 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Recurrent pneumonia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-c... |
ORPHA:647 |
| Whim Syndrome |
|
Recurrent upper respiratory tract infections, Verrucae, Lymphadenitis, Recurrent pneumonia, Sepsi... |
ORPHA:51636 |
| C1Q Deficiency 2 |
|
Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Anemia, Recurrent lower respirato... |
OMIM:620321 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... |
ORPHA:79124 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis |
OMIM:615558 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Anemia |
ORPHA:2325 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia |
ORPHA:27 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro... |
OMIM:613990 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:610333 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal leukocyte... |
ORPHA:169105 |
| Pearson Marrow-Pancreas Syndrome |
|
Recurrent infections, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hepa... |
OMIM:557000 |
| Chylomicron Retention Disease |
|
Acanthocytosis, Hepatic steatosis, Increased hepatocellular lipid droplets |
ORPHA:71 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
| Atelis Syndrome 1 |
|
Anemia, Leukopenia, Thrombocytopenia, Recurrent infections |
OMIM:620184 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia, Rec... |
OMIM:242900 |
| Poikiloderma With Neutropenia |
|
Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Neutr... |
OMIM:604173 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Jaundice, Recurrent infections |
ORPHA:168577 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy |
OMIM:620514 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Thrombo... |
OMIM:613989 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Follicular Lymphoma |
|
Lymphoma, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Meningitis, Mediastinal ... |
ORPHA:545 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Leukocytosis, Splenomegaly |
OMIM:618042 |
| Infantile Liver Failure Syndrome 1 |
|
Anemia, Hepatomegaly, Hepatic steatosis, Macrocytic anemia |
OMIM:615438 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
| Bloom Syndrome |
|
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Abscess, Abnor... |
ORPHA:125 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Turcot Syndrome With Polyposis |
|
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia, Glioblast... |
ORPHA:99818 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... |
OMIM:612714 |
| Necrotizing Enterocolitis |
|
Ascites, Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Neonatal sepsis |
ORPHA:391673 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hepatomegaly, Neutropenia |
OMIM:251900 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple... |
ORPHA:3260 |
| Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia |
ORPHA:293173 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepatomegaly, Jaundice, A... |
OMIM:222470 |
| Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... |
ORPHA:457077 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Neutropen... |
OMIM:227646 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Lymphopenia, Squamous cell carcinoma of the skin, Portal hypertension, Thrombocytopenia, Anemia, ... |
OMIM:620365 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Neutropenia, B lymphocytopenia |
OMIM:301081 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Neutropenia |
OMIM:617050 |
| Rothmund-Thomson Syndrome |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc... |
ORPHA:2909 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... |
OMIM:257200 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hemangioma, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc... |
ORPHA:221008 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary infections, Lymphadenopathy, Recur... |
OMIM:607271 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Splenomegaly, Lymphadenopathy |
OMIM:611762 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
| Hemochromatosis, Type 4 |
|
Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis |
OMIM:606069 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Cardiomegaly |
OMIM:620135 |
| Retinoblastoma |
|
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma |
OMIM:180200 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... |
ORPHA:231222 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... |
OMIM:233710 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent infections, Sepsis, Hepatitis, Autoimmune hemolytic anemia, Splenomegaly, Recurrent gas... |
ORPHA:37042 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| Congenital Erythropoietic Porphyria |
|
Neoplasm of the skin, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocyto... |
ORPHA:79277 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
| Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia |
OMIM:613224 |
| Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Melanoma, Anemia, Squamous... |
ORPHA:221016 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Ascites |
OMIM:603278 |
| Fusariosis |
|
Unusual CNS infection, Granuloma, Brain abscess, Invasive fungal infection, Abnormality of the sp... |
ORPHA:228119 |
| Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Stomach cancer, Intestinal polyposis, Splenomegaly, Neoplasm, Hepatom... |
ORPHA:2930 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Recurrent respiratory infections |
ORPHA:2268 |
| Coach Syndrome 3 |
|
Anemia, Portal fibrosis |
OMIM:619113 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Recurrent infe... |
OMIM:616271 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Myelodysplasia |
OMIM:619951 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Multiple myeloma |
OMIM:230800 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
| Immunodeficiency 92 |
|
Persistent CMV viremia, Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Recurrent oral herp... |
OMIM:619652 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:602450 |
| Relapsing Fever |
|
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Jaundice |
ORPHA:91547 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Sepsis, Lymphopenia, Autoimmune hemolytic anemia, S... |
OMIM:616100 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac... |
OMIM:233690 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:294 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Neutropenia |
OMIM:618253 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, A... |
OMIM:170100 |
| Bazex Syndrome |
|
Anemia, Liposarcoma, Lung adenocarcinoma, Neoplasm |
ORPHA:166113 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Pseudohypoparathyroidism Type 1C |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79444 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent infections, Splenomegaly, Recurrent respiratory infections, Recurrent urinary tract inf... |
OMIM:614699 |
| Intermediate Osteopetrosis |
|
Anemia, Hepatosplenomegaly, Chronic infection |
ORPHA:210110 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:290 |
| Wolman Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:620151 |
| Bloom Syndrome |
|
Recurrent upper respiratory tract infections, Lymphoma, Hepatic steatosis, Squamous cell carcinom... |
OMIM:210900 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia |
OMIM:614450 |
| Down Syndrome |
|
Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni... |
ORPHA:870 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Recurrent sinopulmonary infec... |
OMIM:618394 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... |
ORPHA:381 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:77260 |
| Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
| Familial Benign Copper Deficiency |
|
Anemia |
ORPHA:1551 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Recurrent viral infections, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, S... |
OMIM:620565 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c... |
ORPHA:3261 |
| Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
| Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Myeloid leukemia |
ORPHA:404443 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co... |
ORPHA:2869 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Spherocytosis, Splenomegaly |
ORPHA:251066 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Peritonitis, Pancreatitis, Schi... |
ORPHA:90038 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Megaloblastic anemia, Recurrent urinary tract infections |
OMIM:618882 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
| Sézary Syndrome |
|
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... |
ORPHA:3162 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| Revesz Syndrome |
|
Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia |
OMIM:268130 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Recurrent infections, Abnormality of the lymphatic system, Thrombocytopenia, Increased mean plate... |
ORPHA:487796 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepatomegaly,... |
ORPHA:50918 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:620010 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Lymphopenia, ... |
OMIM:102700 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
OMIM:618440 |
| Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Recurrent pharyngitis, Hepatomegaly |
ORPHA:42642 |
| Common Variable Immunodeficiency |
|
Lymphoma, Lymphopenia, Abnormality of the liver, Splenomegaly, Recurrent bronchitis, Gastrointest... |
ORPHA:1572 |
| Nephronophthisis 9 |
|
Anemia |
OMIM:613824 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Toxic Epidermal Necrolysis |
|
Sepsis, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Recurrent respiratory infections |
ORPHA:537 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Anemia |
OMIM:226670 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemi... |
OMIM:226300 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Neutropenia |
ORPHA:445038 |
| Infantile Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes |
OMIM:269920 |
| Chronic Granulomatous Disease |
|
Sepsis, Recurrent respiratory infections, Splenomegaly, Hepatomegaly, Meningitis, Abnormality of ... |
ORPHA:379 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
| Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Leukocytosis, Ascites |
ORPHA:2070 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Recurrent inf... |
OMIM:617591 |
| Spinal Cord Injury |
|
Hypercalcemia |
ORPHA:90058 |
| Dermotrichic Syndrome |
|
Anemia |
ORPHA:99688 |
| Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Oropharyngeal squamous cell carcinoma, Hod... |
OMIM:305000 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Recurrent bacterial infections, Pancreatitis, Neutropenia, Pancreatic fibrosis, Hep... |
OMIM:232220 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopath... |
OMIM:267700 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Jaundice, Hemolytic anemia |
OMIM:301015 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Neuroblastoma |
OMIM:610832 |
| Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:93325 |
| Congenital Factor Xiii Deficiency |
|
Myeloid leukemia |
ORPHA:331 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Acanthocytosis |
ORPHA:96180 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Acanthocytosis, Poikilocytosis |
OMIM:618947 |
| Anti-Glomerular Basement Membrane Disease |
|
Anemia |
ORPHA:375 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E... |
OMIM:617021 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| Diamond-Blackfan Anemia 1 |
|
Basal cell carcinoma, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated re... |
OMIM:105650 |
| Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79443 |
| Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Neoplasm, Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... |
ORPHA:79301 |
| Hereditary Orotic Aciduria |
|
Anemia, Recurrent respiratory infections, Splenomegaly |
ORPHA:30 |
| Wilson Disease |
|
Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocyto... |
ORPHA:905 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Infectious encephal... |
OMIM:603553 |
| Immunodeficiency 22 |
|
Recurrent upper respiratory tract infections, Ascites, Decreased proportion of CD4-positive helpe... |
OMIM:615758 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Dubowitz Syndrome |
|
Recurrent infections, Lymphoma, Neoplasm, Thrombocytopenia, Anemia, Abnormality of neutrophils, A... |
ORPHA:235 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Sepsis,... |
ORPHA:2968 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurrent sinusitis, Lymphadenopathy, Neu... |
OMIM:607944 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Lymphadenitis, Recurrent Burkhol... |
OMIM:306400 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:391 |
| Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
| Bone Marrow Failure Syndrome 5 |
|
Erythroid hypoplasia, Pure red cell aplasia, Anemia |
OMIM:618165 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis |
ORPHA:86818 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Esophageal carcinoma, Recurrent upper respiratory tract infections, Hepatitis, Chronic mucocutane... |
ORPHA:391487 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia |
OMIM:259710 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... |
ORPHA:829 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... |
ORPHA:77259 |
| Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom... |
OMIM:606003 |
| Glucagonoma |
|
Intrahepatic cholestasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Abnorma... |
ORPHA:97280 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
ORPHA:85212 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes... |
ORPHA:44890 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal angio... |
OMIM:260920 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
| Retinoblastoma |
|
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... |
ORPHA:790 |
| Roifman Syndrome |
|
Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Eosinophilia, Lymphadenopathy, Hepatom... |
OMIM:616651 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Hepatocellular carcinoma |
OMIM:613490 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatous colonic poly... |
ORPHA:329971 |
| Cryptococcosis |
|
Sepsis, Neoplasm, Peritonitis, Cirrhosis, Meningitis, Lymphoid leukemia, Mediastinal lymphadenopathy |
ORPHA:1546 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Pneumocystosis |
|
Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Neoplasm, Chronic oral candidiasis |
ORPHA:723 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Opportunistic infection, Intestinal lymphangiectasia, Ascites, Lymphopenia, ... |
ORPHA:90362 |
| 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 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice |
OMIM:619868 |
| Immunodeficiency 31C |
|
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Lymphopenia, Disseminated hi... |
OMIM:614162 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Recurrent lower respiratory tract infections, Neutropenia |
OMIM:618005 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... |
OMIM:610377 |
| Vici Syndrome |
|
Recurrent viral infections, Chronic mucocutaneous candidiasis, Lymphopenia, Leukopenia, Decreased... |
OMIM:242840 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis |
OMIM:616719 |
| Legius Syndrome |
|
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... |
ORPHA:137605 |
| Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... |
OMIM:248250 |
| Majeed Syndrome |
|
Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom... |
ORPHA:77297 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Aceruloplasminemia |
|
Anemia |
OMIM:604290 |
| Neuraminidase Deficiency |
|
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells |
OMIM:256550 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis... |
OMIM:615934 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... |
OMIM:616828 |
| Neurofibromatosis Type 1 |
|
Chronic myelogenous leukemia, Neoplasm of the skin, Meningioma, Rhabdomyosarcoma, Pheochromocytom... |
ORPHA:636 |
| Mirage Syndrome |
|
Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Recurrent bacterial infectio... |
OMIM:617053 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hepatitis, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hypertension, Cirrhosis, Neutr... |
ORPHA:228426 |
| Solitary Rectal Ulcer Syndrome |
|
Anemia |
ORPHA:209964 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Leukemia, Embryonal rhabdomyosarcoma, Nephroblastoma |
OMIM:257300 |
| Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... |
OMIM:127550 |
| Malt Lymphoma |
|
B-cell lymphoma, Lymphadenopathy, Anemia, Recurrent respiratory infections, Mediastinal lymphaden... |
ORPHA:52417 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... |
ORPHA:157215 |
| Pearson Syndrome |
|
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ... |
ORPHA:699 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Fanconi Anemia, Complementation Group S |
|
Anemia, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma |
OMIM:617883 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Recurrent infections, Neutropenia |
OMIM:615471 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis |
OMIM:228000 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
| Cholestasis-Lymphedema Syndrome |
|
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
OMIM:214900 |
| Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
| Muckle-Wells Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:575 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly |
OMIM:617388 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Anal Fistula |
|
Leukocytosis |
ORPHA:228113 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Anemia, Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:613845 |
| Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Hepatomegaly, Recurre... |
OMIM:613489 |
| Neuroblastoma, Susceptibility To, 1 |
|
Ganglioneuroblastoma, Ganglioneuroma, Neuroblastoma, Anemia, Abdominal mass |
OMIM:256700 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Squamous cell carcinoma, Neutropenia, Recurr... |
ORPHA:33364 |
| Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:105200 |
| Corticosteroid-Binding Globulin Deficiency |
|
Anemia |
OMIM:611489 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Recurrent bacterial inf... |
OMIM:615895 |
| Khan-Khan-Katsanis Syndrome |
|
Anemia, Lymphopenia, Neutropenia |
OMIM:618460 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent infections, Bone marrow hypocellularity, Recurrent otitis media, Lymphopenia, Pancytope... |
OMIM:615688 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena... |
ORPHA:157794 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the th... |
OMIM:243150 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... |
ORPHA:464329 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Enlarged tonsils, Hepatomegaly, Thrombocyt... |
ORPHA:2785 |
| Staphylococcal Necrotizing Pneumonia |
|
Sepsis, Leukopenia, Leukocytosis, Severe infection, Neutrophilia |
ORPHA:36238 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the scrotum, Uterine neoplasm, Pelvic mass, Ascites, Neoplasm of the pancreas, Pancre... |
ORPHA:370348 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
| Hatipoglu Immunodeficiency Syndrome |
|
Recurrent otitis media, Pancytopenia, Recurrent bronchitis, Recurrent herpes, Anemia, Recurrent i... |
OMIM:620331 |
| Carney Triad |
|
Adrenocortical adenoma, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma,... |
ORPHA:139411 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Thrombocytopenia |
ORPHA:231111 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hepatomegaly, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
| Psoriasis 14, Pustular |
|
Cholangitis, Leukocytosis, Neutrophilia |
OMIM:614204 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Abetalipoproteinemia |
|
Hepatic fibrosis, Acanthocytosis, Hepatic steatosis, Reticulocytosis, Cardiomegaly, Hepatomegaly,... |
ORPHA:14 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent infection of the gastrointestinal tract, Leukocytosis, Recurrent urinary tract infections |
ORPHA:51890 |
| 1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei |
ORPHA:250999 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Anemia |
ORPHA:79409 |
| Pyomyositis |
|
Testicular teratoma, Sepsis, Leukocytosis, Recurrent infections, Recurrent cutaneous abscess form... |
ORPHA:764 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Anemia, Sideroblastic anemia, Leukopenia |
OMIM:255125 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level |
ORPHA:95409 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Enlarged kidney, Increased hepatic glycogen content, Recurrent bacterial infec... |
ORPHA:79259 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:259700 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly |
ORPHA:75234 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Chronic lymphatic leukemia, B-cell lymphoma, Multiple my... |
ORPHA:91139 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
| Fanconi Anemia, Complementation Group R |
|
Anemia, Bone marrow hypocellularity |
OMIM:617244 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259730 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Anemia |
OMIM:620366 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:620075 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
| Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re... |
OMIM:116920 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon... |
OMIM:615512 |
| Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
| Weismann-Netter Syndrome |
|
Anemia |
ORPHA:3344 |
| Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Recurrent bacterial infections |
OMIM:244460 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex... |
OMIM:300972 |
| Gaucher Disease, Type Ii |
|
Bronchiolitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230900 |
| Dyskeratosis Congenita, Digenic |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma, Anemia, Recurrent infections |
OMIM:620040 |
| Pediatric-Onset Graves Disease |
|
Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatomegal... |
ORPHA:525731 |
| Leigh Syndrome |
|
Anemia, Severe viral infection, Neutropenia |
ORPHA:506 |
| Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia |
ORPHA:340 |
| Fanconi Anemia, Complementation Group P |
|
Anemia, Pancytopenia, Squamous cell carcinoma |
OMIM:613951 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia, Recurrent respiratory infections, Abnormality of the pancreas |
ORPHA:935 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia |
OMIM:617099 |
| Dubowitz Syndrome |
|
Aplastic anemia, Lymphoma, Neuroblastoma, Recurrent infections, Acute lymphoblastic leukemia |
OMIM:223370 |
| Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Acanthocytosis |
ORPHA:157850 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia |
OMIM:618835 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis... |
ORPHA:1052 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia |
OMIM:618839 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Anemia |
OMIM:608068 |
| Macrocephaly/Autism Syndrome |
|
Recurrent otitis media, Lymphopenia, Splenomegaly, Hepatomegaly, Recurrent infections |
OMIM:605309 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
| Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
| Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Abnormality of thrombocytes, Neutropenia |
ORPHA:79430 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
| Glycogen Storage Disease Ic |
|
Recurrent upper respiratory tract infections, Cyclic neutropenia, Chronic pancreatitis, Hepatobla... |
OMIM:232240 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Cirrhosis, Thro... |
ORPHA:77293 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... |
OMIM:601678 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Castleman Disease |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy... |
ORPHA:160 |
| Congenital Factor Ii Deficiency |
|
Anemia |
ORPHA:325 |
| Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Hepatomegaly, Abnormality of the pancreas, Neutropenia |
ORPHA:175 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Anemia, Elliptocytosis |
OMIM:300990 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Ab... |
ORPHA:264580 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega... |
OMIM:259720 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Leukocytosis, Perianal abscess, Candida esophagitis, Thrombocytosis, Severe v... |
OMIM:618213 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent pneumonia, Recurrent urinary tract infections, Microcytic anemia, Recurrent otitis medi... |
ORPHA:99843 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
| Sandifer Syndrome |
|
Anemia |
ORPHA:71272 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Splenomegaly, Hepatosplenomegaly, Juvenile myelomonocytic leukemia |
OMIM:613563 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Mixed Connective Tissue Disease |
|
Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Meningitis,... |
ORPHA:809 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an... |
ORPHA:440713 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Anemia, Leukocytosis, Lung abscess, Liver abscess |
ORPHA:67 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia, Hepatocellular adenoma, Recurren... |
ORPHA:79240 |
| Juvenile Polyposis Syndrome |
|
Duodenal adenocarcinoma, Multiple gastric polyps, Anemia, Neoplasm of the stomach, Colon cancer |
OMIM:174900 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
| Urachal Cyst |
|
Neoplasm, Leukocytosis, Abscess, Peritonitis, Severe infection, Abdominal mass |
ORPHA:488 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
| Stiff-Person Syndrome |
|
Anemia |
OMIM:184850 |
| Attrv122I Amyloidosis |
|
Anemia, Left ventricular hypertrophy, Cardiomegaly |
ORPHA:85451 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
| Q Fever |
|
Unusual infection, Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomega... |
ORPHA:781 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... |
OMIM:601847 |
| Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... |
OMIM:257220 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Sepsis, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephaliti... |
ORPHA:549 |
| Zygomycosis |
|
Unusual skin infection, Brain abscess, Hepatitis, Invasive fungal infection, Infectious encephali... |
ORPHA:73263 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis |
ORPHA:676 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... |
OMIM:602347 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:614800 |
| Addison Disease |
|
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level |
ORPHA:85138 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Cohen Syndrome |
|
Neutropenia |
ORPHA:193 |
| Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
| Neuroblastoma |
|
Neoplasm of the nervous system, Lymphadenopathy, Thrombocytopenia, Neuroblastoma, Anemia, Abdomin... |
ORPHA:635 |
| Noonan Syndrome 2 |
|
Leukemia, Acute lymphoblastic leukemia |
OMIM:605275 |
| Nephronophthisis 1 |
|
Anemia |
OMIM:256100 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Anemia, Squamous cell carcinoma |
OMIM:226600 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Recurrent ear infections, Recurrent cutaneous abscess formation... |
ORPHA:163956 |
| Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
| Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Cardiomegal... |
ORPHA:51 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Hepatomegaly, Recurrent pneumonia, Splenomegaly |
OMIM:612301 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Sepsis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, C... |
ORPHA:480520 |
| Stevens-Johnson Syndrome |
|
Sepsis, Recurrent respiratory infections, Pancreatitis, Thrombocytopenia, Anemia, Abnormality of ... |
ORPHA:36426 |
| Systemic Capillary Leak Syndrome |
|
Pancreatitis, Leukocytosis, Multiple myeloma |
ORPHA:188 |
| Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
| Tangier Disease |
|
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d... |
ORPHA:31150 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... |
OMIM:227810 |
| Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Lymphoma, Recurrent respiratory infections, Neoplasm, Splenomegaly, ... |
ORPHA:1775 |
| Nephronophthisis 11 |
|
Anemia, Hepatic fibrosis |
OMIM:613550 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Lymphoma |
ORPHA:2526 |
| 17Q11 Microdeletion Syndrome |
|
Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neuromas, Atypical neuro... |
ORPHA:97685 |
| Whipple Disease |
|
Splenomegaly, Infectious encephalitis, Hepatomegaly, Anemia, Mediastinal lymphadenopathy |
ORPHA:3452 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... |
ORPHA:411634 |
| Arteriosclerosis, Severe Juvenile |
|
Anemia |
OMIM:208060 |
| Ellis Van Creveld Syndrome |
|
Acute leukemia |
ORPHA:289 |
| Poems Syndrome |
|
Visceromegaly, Polycythemia, Ascites, Splenomegaly, Hemangioma, Lymphadenopathy, Thrombocytosis, ... |
ORPHA:2905 |
| Diamond-Blackfan Anemia 10 |
|
Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia |
OMIM:613309 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Sepsis, Polysplenia, Exocrine pancreatic insufficien... |
OMIM:619418 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Neutropenia |
OMIM:617799 |
| Familial Mediterranean Fever |
|
Leukocytosis, Splenomegaly, Peritonitis, Neutrophilia, Hepatomegaly, Meningitis |
OMIM:249100 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic... |
ORPHA:284 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia |
OMIM:222700 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent respiratory infections |
ORPHA:77261 |
| Noonan Syndrome |
|
Juvenile myelomonocytic leukemia, Abnormality of the spleen, Abnormality of the lymphatic system,... |
ORPHA:648 |
| Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia |
OMIM:609942 |
| Chime Syndrome |
|
Acute leukemia |
ORPHA:3474 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Myeloproliferative disorder, Neoplasm |
ORPHA:70591 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
| Gaucher Disease, Perinatal Lethal |
|
Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:608013 |
| Cogan Syndrome |
|
Anemia, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
| Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J... |
OMIM:607625 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
| Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
| Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Cholestasis, Hepatic steatosis, Hepatomegaly, Cirrhosis, Thrombocytosis, Anemia |
OMIM:615486 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Neutropenia |
OMIM:271510 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Hepatocellu... |
OMIM:251880 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis |
OMIM:234200 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly |
OMIM:235555 |
| Down Syndrome |
|
Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
| Schinzel-Giedion Syndrome |
|
Recurrent pneumonia, Annular pancreas, Ependymoma, Teratoma, Nephroblastoma, Facial hemangioma, H... |
ORPHA:798 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Recurrent upper respiratory tract infections, Capillary hemangioma, Neoplasm, L... |
OMIM:180849 |
| Pachydermoperiostosis |
|
Neoplasm of the skin, Splenomegaly, Hepatomegaly, Anemia, Neoplasm of the lung |
ORPHA:2796 |
| Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation |
OMIM:613027 |
| Shigellosis |
|
Sepsis, Microangiopathic hemolytic anemia, Cholestasis, Leukocytosis, Abscess, Peritonitis, Splen... |
ORPHA:810 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
| Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia |
ORPHA:173 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hilar lymph node enlargement, Cholestasis, Recurrent otitis media, Leukocytosis, Hepatomegaly, Re... |
OMIM:620233 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Cavernous hem... |
OMIM:616028 |
| Lymphatic Malformation 7 |
|
Anemia, Ascites |
OMIM:617300 |
| Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
| Primary Hyperoxaluria Type 1 |
|
Anemia, Recurrent urinary tract infections |
ORPHA:93598 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
| Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome... |
OMIM:607765 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
| Somatostatinoma |
|
Hypercalcemia |
ORPHA:97283 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinoge... |
OMIM:263700 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Hepatitis, Recurrent otitis media, Decreased proportion of nai... |
OMIM:619381 |
| Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Ascites, Hepatosplenomeg... |
ORPHA:84081 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Nephroblastoma |
OMIM:617107 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Neutropenia |
OMIM:617248 |
| Poland Syndrome |
|
Acute leukemia, Abnormality of the liver, Neoplasm of the breast, Retinal hamartoma |
ORPHA:2911 |
| Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell c... |
OMIM:620376 |
| Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Chronic neutropenia, Nephroblastoma, Enlarged kidney |
ORPHA:500095 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Acute lymphoblastic leukemia |
OMIM:280000 |
| Budd-Chiari Syndrome |
|
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... |
ORPHA:131 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
| Gaucher Disease, Type Iiic |
|
Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231005 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:618641 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... |
OMIM:613812 |
| Rat-Bite Fever |
|
Sepsis, Lymphadenitis, Abdominal aseptic abscess, Pancreatitis, Anemia, Meningitis |
ORPHA:31205 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Vacuolated lymphocytes, Recurrent respiratory infections, Neutropenia |
OMIM:208400 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
| Choreoacanthocytosis |
|
Hepatomegaly, Abnormal erythrocyte enzyme concentration or activity, Acanthocytosis, Splenomegaly |
ORPHA:2388 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Hepatomegaly, Generalized lymphadenopat... |
OMIM:615846 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... |
ORPHA:79102 |
| Brucellosis |
|
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality of the liver, Infec... |
ORPHA:1304 |
| Tyrosinemia, Type I |
|
Ascites, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatomegaly, Cirrhosis, Anemia, Enlarg... |
OMIM:276700 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... |
ORPHA:3337 |
| Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anemia, Sepsis, Neutropenia |
ORPHA:95455 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis |
OMIM:617913 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformati... |
OMIM:175050 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... |
OMIM:607626 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Micronodular cirrhosis, Abnormality of the liver, Portal hypertension, Splenomegaly... |
ORPHA:309854 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Recurrent pneumonia, Recurrent urinary tract infections, C... |
ORPHA:731 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... |
ORPHA:36234 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia |
OMIM:174000 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... |
ORPHA:447 |
| Williams Syndrome |
|
Hypercalcemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase con... |
ORPHA:904 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
| Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Erythroid hyperplasia, Hemolytic anemia, Splenomegaly |
ORPHA:95159 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal... |
OMIM:610199 |
| Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia |
OMIM:212750 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... |
OMIM:219800 |
| Familial Tumoral Calcinosis |
|
Hepatomegaly, Neoplasm of the skin, Splenomegaly |
ORPHA:53715 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Recurrent respiratory infections |
ORPHA:667 |
| Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Splenomegaly, Peritonitis, Lymphadenopathy, Recurrent pharyngitis |
ORPHA:32960 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Increased hepatic echogenicity, Microcytic anemia, Recurrent otitis media, Hepatic steatosis, Spl... |
OMIM:619525 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma |
OMIM:612918 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei |
OMIM:618019 |
| Juvenile Polyposis Syndrome |
|
Hamartomatous stomach polyps, Brain abscess, Stomach cancer, Neoplasm of the gastrointestinal tra... |
ORPHA:2929 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenomegaly |
ORPHA:565612 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Splenomegaly, Abnor... |
ORPHA:186 |
| Familial Mediterranean Fever |
|
Ascites, Leukocytosis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy, Meningitis |
ORPHA:342 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
| Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
| Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia |
OMIM:229600 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome... |
OMIM:263200 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:613471 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h... |
ORPHA:567983 |
| Sponastrime Dysplasia |
|
Recurrent pneumonia, Neutropenia |
ORPHA:93357 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Acute myelomonocytic leukemia, Sepsis, Multiple enchondromatosis, Cavernous ... |
ORPHA:99646 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Hypocalcemia |
ORPHA:2237 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
| Yellow Fever |
|
Pancreatic hyperplasia, Opportunistic infection, Leukocytosis, Thrombocytopenia, Neutrophilia, Ja... |
ORPHA:99829 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly |
OMIM:238600 |
| Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly |
OMIM:615947 |
| Williams-Beuren Syndrome |
|
Hypercalcemia |
OMIM:194050 |
| Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echogenicity, He... |
OMIM:619991 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract... |
OMIM:612132 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets |
ORPHA:289176 |
| Crimean-Congo Hemorrhagic Fever |
|
Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Lymphadenopathy, Th... |
ORPHA:99827 |
| Sotos Syndrome |
|
Small cell lung carcinoma, Neoplasm, Cholesteatoma, Astrocytoma, Hemangioma, Neuroblastoma, Prolo... |
ORPHA:821 |
| Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
| Blau Syndrome |
|
Abnormality of the liver, Clear cell renal cell carcinoma, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:90340 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
| Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia |
OMIM:613658 |
| Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
| Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
| 22Q11.2 Deletion Syndrome |
|
Hypocalcemia |
ORPHA:567 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia |
OMIM:620330 |
| Digeorge Syndrome |
|
Hypocalcemia |
OMIM:188400 |
| Charge Syndrome |
|
Hypocalcemia |
OMIM:214800 |
| Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
| Spinocerebellar Ataxia 49 |
|
|
OMIM:619806 |
