| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Hodgkin lymphoma, Ant... |
OMIM:619375 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoma, Recurrent respiratory infections, Pancytopenia, Autoimmunity, Splenomegaly, Follicular ... |
OMIM:614470 |
| Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma |
OMIM:609265 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Tumor Predisposition Syndrome 1 |
|
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... |
OMIM:614327 |
| Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... |
OMIM:165550 |
| Autoimmune Lymphoproliferative Syndrome |
|
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... |
OMIM:601859 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... |
OMIM:603909 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... |
OMIM:607685 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid leukemia, Hem... |
ORPHA:158057 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... |
OMIM:308240 |
| Schnitzler Syndrome |
|
Vasculitis, Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Arthritis, ... |
ORPHA:37748 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the skin, Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia,... |
ORPHA:3261 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Lymphoma, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... |
ORPHA:2137 |
| Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Multiple myeloma, Vasc... |
ORPHA:91139 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... |
ORPHA:99867 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd... |
OMIM:617006 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... |
ORPHA:90280 |
| Primary Erythromelalgia |
|
Leukemia, Vasculitis, Recurrent respiratory infections |
ORPHA:90026 |
| Acquired Ichthyosis |
|
Lymphoma, Neoplasm, Renal insufficiency, Autoimmunity, Sarcoma, Recurrent skin infections, Multip... |
ORPHA:454 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Microphthalmia/Coloboma 12 |
|
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... |
OMIM:120200 |
| Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
| Asbestos Intoxication |
|
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... |
ORPHA:2302 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Polycythemia, Neonatal death... |
OMIM:600501 |
| Common Variable Immunodeficiency |
|
Pneumonia, Vasculitis, Chronic otitis media, Elevated circulating hepatic transaminase concentrat... |
ORPHA:1572 |
| Lung Cancer |
|
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma |
OMIM:211980 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... |
OMIM:618913 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Systemic lupus erythematosus, Leuko... |
OMIM:616871 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... |
OMIM:606719 |
| Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... |
OMIM:614420 |
| Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Antineutrophil antibody positiv... |
ORPHA:99931 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Antiphospholipid antibody po... |
ORPHA:781 |
| N Syndrome |
|
Leukemia, Neoplasm, Hypospadias, Cryptorchidism |
OMIM:310465 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... |
ORPHA:732 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
| Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... |
ORPHA:231401 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Myofibromatosis, Infantile, 1 |
|
Myofibromatosis, Fibroma |
OMIM:228550 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation |
OMIM:131440 |
| Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia |
OMIM:614082 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... |
OMIM:613779 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar... |
ORPHA:3287 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
| Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Antineutrophil antibody positivity, Periodontitis, Aplastic anemia, Lymphopenia, Recur... |
ORPHA:486 |
| Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Autoimmunity, Leukocytosis, Myelodysplasia, Acute myeloid leukemia, ... |
ORPHA:98827 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Cirrhosis,... |
OMIM:614743 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Essential Thrombocythemia |
|
Acute leukemia, Abnormal cerebral vascular morphology, Transient ischemic attack, Leukocytosis, S... |
ORPHA:3318 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Congestive heart failure, Systemic lupus erythematosus, Autoimmunity, Spl... |
ORPHA:90033 |
| Desmoplastic Small Round Cell Tumor |
|
Ascites, Ileus, Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hep... |
ORPHA:83469 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... |
ORPHA:2585 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... |
OMIM:616005 |
| Infantile Myofibromatosis |
|
Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, In... |
ORPHA:2591 |
| Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
| Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Abnormal peritoneum morphology |
ORPHA:2023 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Bone marrow hypocellularity, A... |
OMIM:614742 |
| Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
| C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
| Bazex Syndrome |
|
Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma |
ORPHA:166113 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Inflammatory abnormality of the eye, Hepatomegaly, Ascites, Pleural effusion, Renal in... |
ORPHA:36412 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9 |
|
Leukemia, Leukopenia, Pulmonary fibrosis |
OMIM:620400 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Intracranial hemorrhage,... |
ORPHA:3226 |
| Rhabdoid Tumor |
|
Hematuria, Neoplasm of the liver, Anemia, Internal hemorrhage, Thrombocytopenia, Lymphadenopathy,... |
ORPHA:69077 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Lymphedema, Primary, With Myelodysplasia |
|
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia |
OMIM:614038 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl... |
ORPHA:567544 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension, Decreased liver function, Ascites, Hepatosplenomegaly, ... |
ORPHA:98850 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Malar rash, Leukopenia, Antinuclear an... |
OMIM:152700 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Lupus anticoagulant, Eryth... |
OMIM:615688 |
| Anti-Glomerular Basement Membrane Disease |
|
Vasculitis, Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis,... |
ORPHA:375 |
| Yellow Nail Syndrome |
|
Nephropathy, Biliary tract neoplasm, Yellow nails, Recurrent respiratory infections, Neoplasm, Hy... |
ORPHA:662 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrha... |
ORPHA:33226 |
| Maffucci Syndrome |
|
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... |
ORPHA:163634 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... |
ORPHA:329918 |
| Ollier Disease |
|
Neoplasm, Lymphangioma, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral angiomat... |
ORPHA:296 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody positivity... |
ORPHA:221 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemia, Neutrophilia, Hepatom... |
ORPHA:98849 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pleura morphology, Intestinal obstruction, Hematuria, Tubulointerstitial nephritis, Dysp... |
ORPHA:183 |
| Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, ... |
ORPHA:91138 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Hirsutism, Membranoproliferative g... |
OMIM:608709 |
| Nephrotic Syndrome, Type 7 |
|
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... |
OMIM:615008 |
| Systemic Sclerosis |
|
Chronic kidney disease, Intestinal bleeding, Telangiectasia, Glomerulonephritis, Abnormality of t... |
ORPHA:90291 |
| C1Q Deficiency 1 |
|
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus |
OMIM:613652 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Nephrotic syndrome, Elevated circulating hepatic transaminase concentration,... |
OMIM:619644 |
| Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis |
OMIM:246470 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expr... |
OMIM:304790 |
| Mantle Cell Lymphoma |
|
B-cell lymphoma, Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... |
OMIM:619858 |
| Neutrophilia, Hereditary |
|
Myelodysplasia, Splenomegaly, Neutrophilia |
OMIM:162830 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Respi... |
ORPHA:444463 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Pancytopeni... |
ORPHA:1855 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal intestine morphology, Neutr... |
ORPHA:1830 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Acute leukemia, Inflammation of the large intestine, Abnormal eosinophil morphology,... |
ORPHA:906 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Ventricular septal defect, Nephroblastoma, Meningioma |
OMIM:602501 |
| Cutaneous Neuroendocrine Carcinoma |
|
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop... |
ORPHA:79140 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume, Pancytopenia, Anti-islet... |
OMIM:620044 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Acute leukemia, Abnormal stomach morphology, Renal insufficiency, Cryp... |
ORPHA:281090 |
| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... |
ORPHA:37042 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent respiratory infections... |
OMIM:300853 |
| Mismatch Repair Cancer Syndrome 1 |
|
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... |
OMIM:276300 |
| Legius Syndrome |
|
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M... |
ORPHA:137605 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Aortic root aneurysm, Eczematoid dermatitis, Chronic mucocutaneous candidiasis... |
OMIM:615816 |
| Muckle-Wells Syndrome |
|
Nephropathy, Vasculitis, Renal amyloidosis, Conjunctivitis, Recurrent aphthous stomatitis, Episcl... |
ORPHA:575 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:615395 |
| Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chilblains, ... |
OMIM:225750 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Myelodysplasia, Abnormal... |
ORPHA:86841 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Lymphoma, Recurrent otitis media, Decreased circulating antibod... |
ORPHA:397596 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Skin rash, Esophage... |
ORPHA:44890 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Progressive Osseous Heteroplasia |
|
Sarcoma, Abnormality of the parathyroid gland, Osteoarthritis |
ORPHA:2762 |
| Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
| Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Osteomyelitis, Lymphopenia, Anemia, B lymphoc... |
OMIM:614172 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia |
OMIM:610738 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia |
OMIM:252270 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Lymphoma, Recurrent ... |
OMIM:240500 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Ant... |
OMIM:616414 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... |
ORPHA:157798 |
| Boutonneuse Fever |
|
Vasculitis, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Le... |
ORPHA:83313 |
| Werner Syndrome |
|
Neoplasm of the oral cavity, Premature graying of hair, White forelock, Melanoma, Renal neoplasm,... |
ORPHA:902 |
| Glioma Susceptibility 3 |
|
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... |
OMIM:613029 |
| Microscopic Polyangiitis |
|
Vasculitis, Uveitis, Oliguria, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... |
ORPHA:727 |
| Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
OMIM:615861 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Anal atresia, T-cell acute lymphoblastic leu... |
OMIM:605724 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased... |
ORPHA:449395 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
| Acquired Partial Lipodystrophy |
|
Autoimmunity, Hepatic steatosis, Proteinuria, Generalized hirsutism, Glomerulopathy, Lymphocytosi... |
ORPHA:79087 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension, Abnormality of the spleen, Abnormality of the liver, Ly... |
ORPHA:79456 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocy... |
ORPHA:289390 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Pulmonary cyst, Abscess, Ovarian cyst, Increased circulating antibody level, ... |
ORPHA:400 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Liposarcoma |
|
Sarcoma, Abnormality of the kidney, Varicose veins |
ORPHA:69078 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat... |
OMIM:620565 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Persistent left superior vena cava, Acute myeloid leukem... |
OMIM:619151 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Pulmonary hemorrhage, Decreased glomerular filtration rate, Renal... |
ORPHA:93126 |
| Tumor Predisposition Syndrome 2 |
|
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... |
OMIM:619975 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
| Polycythemia Vera |
|
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch... |
ORPHA:729 |
| Sweet Syndrome |
|
Neutrophilia, Inflammation of the large intestine, Dilated cardiomyopathy, Acne inversa, Neoplasm... |
ORPHA:3243 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
| Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... |
ORPHA:494424 |
| Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
| Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
| Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ... |
OMIM:619220 |
| Adrenocortical Carcinoma |
|
Hypertrichosis, Increased urinary cortisol level, Palpitations, Lung adenocarcinoma, Adrenocortic... |
ORPHA:1501 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m... |
ORPHA:71493 |
| Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Lymphoma, Ascites, Abnormal small intestine morphology, Splenomegaly, Dysgammaglobuline... |
ORPHA:100025 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies |
OMIM:223350 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Cholestasis, Dilatation ... |
ORPHA:615 |
| Bloom Syndrome |
|
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Sparse eyelashes, Telangiec... |
ORPHA:125 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran... |
OMIM:618999 |
| Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Partial atrioventricular canal defect, Renal insufficie... |
OMIM:615996 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Lig4 Syndrome |
|
Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Cryptorchidism, Low anterior hairline, Tela... |
ORPHA:99812 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... |
ORPHA:1304 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... |
OMIM:616730 |
| Giant Cell Arteritis |
|
Vasculitis, Hepatic failure, Epistaxis, Alopecia, Aortic dissection, Double outlet right ventricl... |
ORPHA:397 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Vasculitis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Intestinal obstruction, P... |
ORPHA:343 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:237800 |
| Immunodeficiency 104 |
|
Pneumonia, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Rec... |
OMIM:608971 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm... |
ORPHA:49041 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... |
OMIM:614480 |
| Buerger Disease |
|
Vasculitis, Arterial occlusion, Raynaud phenomenon, Intermittent claudication |
ORPHA:36258 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
| Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Increased circulating antibody level, Hematuria, Increased ... |
ORPHA:48435 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
| Cowden Syndrome 7 |
|
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hashimoto thyroiditis, Hem... |
OMIM:616858 |
| Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Neuroendocrine neoplasm, Tricuspid regurgitation, Thick eyebrow, Mitral reg... |
ORPHA:404443 |
| Turcot Syndrome With Polyposis |
|
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... |
ORPHA:99818 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Vasculitis, Recurrent pneumonia, Inflammation of the large intest... |
OMIM:617718 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lup... |
OMIM:620376 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Thyroid carcinoma, Intestinal polyposis, Penile freckling, Hepatic steatosis, Multiple lipomas, L... |
ORPHA:210548 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... |
ORPHA:247806 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea... |
OMIM:278000 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Highly arched eyebrow, Secundum atrial septal defect, Dilation of Virc... |
OMIM:619951 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas... |
OMIM:619048 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Viral hepatitis, Abnormal pancreas morpho... |
ORPHA:139507 |
| Dermatofibrosarcoma Protuberans |
|
Neoplasm of the skin, Fibrosarcoma |
ORPHA:31112 |
| Familial Mediterranean Fever |
|
Nephropathy, Acute hepatic failure, Intestinal obstruction, Arrhythmia, Nephrotic syndrome, Vascu... |
ORPHA:342 |
| Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Hepatomegaly, ... |
OMIM:615846 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... |
ORPHA:70591 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
| Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Ascites, Skin rash, Abnormal gastric mucosa morphology, Infe... |
ORPHA:779 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... |
ORPHA:2494 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho... |
OMIM:613490 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, High palate, Glomerulonephritis |
ORPHA:2172 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Erythroderma, Myocardia... |
ORPHA:3260 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant... |
OMIM:617609 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage, Macroglossia, Neurofibroma |
ORPHA:2430 |
| Complement Factor I Deficiency |
|
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal ins... |
OMIM:610984 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B-cell lymphoma, Lymphad... |
OMIM:619164 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... |
OMIM:620282 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... |
OMIM:618348 |
| Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Hematuria, Prostatitis, Arrhythmia, Inflammatory abnormality of the eye, ... |
ORPHA:900 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Pleural effusion, Sp... |
OMIM:613011 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Anticardiolipin IgM antibody positivity, Jaundice, Esophageal varix, Gastrointesti... |
ORPHA:64743 |
| Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Acute leukemia |
ORPHA:2770 |
| Thrombocytopenia 5 |
|
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... |
OMIM:616216 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Desmoid Tumor |
|
Neoplasm of the skin, Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, ... |
ORPHA:873 |
| Cutaneous Small Vessel Vasculitis |
|
Vasculitis, Recurrent skin infections, Skin rash |
ORPHA:889 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Vasculitis, Alopecia, Malar r... |
ORPHA:50918 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:206900 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... |
ORPHA:436159 |
| Dubin-Johnson Syndrome |
|
Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra... |
ORPHA:234 |
| Microphthalmia, Isolated 8 |
|
Hypoplastic optic chiasm, Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, ... |
OMIM:615113 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Supernumerary nipple, Stage 5 chronic kidney disease, Proteinuria, Glomerulonep... |
OMIM:614376 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Facial telangiecta... |
OMIM:210900 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Hepatomegaly, Breast carcinoma |
ORPHA:86893 |
| Immunodeficiency 84 |
|
Perianal abscess, B-cell lymphoma, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Low posterior hairline, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macr... |
OMIM:617303 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo... |
ORPHA:567548 |
| Gardner Syndrome |
|
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... |
ORPHA:79665 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... |
ORPHA:811 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Recurrent pneumonia, Hypertrichosis, Microcytic anemia, Hepatosplenomegaly, Mitral regurgitation,... |
OMIM:619750 |
| Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Bone marrow hypocellularity, Annular pancreas, Renal agenesis, Abno... |
OMIM:227646 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Coronary artery atherosclerosis, Polycystic ovaries, Pancreatitis, Hepatomegal... |
ORPHA:79084 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Vasculitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myos... |
ORPHA:32960 |
| Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Moyamoya Disease 1 |
|
Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy |
OMIM:252350 |
| Large Congenital Melanocytic Nevus |
|
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Generalized hirsutism, Sarcoma, Rhabdomyosarcoma |
ORPHA:626 |
| Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... |
ORPHA:882 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Varicose veins, Renal duplication, Abnormality of the pulmona... |
ORPHA:33001 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated circulating hepatic transaminase concentration, Hepatic steatosis |
OMIM:618400 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Retinal hemorrhage, ... |
ORPHA:86839 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphoma, Abnormal hair morphology, Lymphopenia, Decreased circu... |
OMIM:208900 |
| Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cryptorchidism, Low posterior hair... |
OMIM:613224 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Myelodysplasia, Cryptorchidism, Chronic sinusitis, Low ant... |
OMIM:606593 |
| Bacterial Toxic-Shock Syndrome |
|
Abscess, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Renal ... |
ORPHA:36234 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased circulating antibody level, Cirrhosis, Glomerulon... |
ORPHA:470 |
| Infantile Sialic Acid Storage Disease |
|
Fair hair, Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes,... |
OMIM:269920 |
| Down Syndrome |
|
Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:870 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Decreased proportion ... |
OMIM:243700 |
| Localized Scleroderma |
|
Vasculitis, Gastroesophageal reflux, Fasciitis, Esophagitis, Autoimmunity, Hashimoto thyroiditis,... |
ORPHA:90289 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
| Hemochromatosis, Type 1 |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive hea... |
OMIM:235200 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Aspiration pneumonia, Vulvar neoplasm, Abnormal gastrointest... |
ORPHA:1018 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... |
ORPHA:1359 |
| Morbid Obesity And Spermatogenic Failure |
|
Premature coronary artery atherosclerosis, Congestive heart failure, Hepatic steatosis, Hypertens... |
OMIM:615703 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Hepatic steatosis, Cardio... |
ORPHA:26792 |
| Behçet Disease |
|
Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage... |
ORPHA:117 |
| Immunodeficiency 87 And Autoimmunity |
|
Biventricular hypertrophy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ... |
OMIM:619573 |
| Vasculitis, Lymphocytic, Nodular |
|
Nodular inflammatory vasculitis |
OMIM:192310 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Splenomegaly, Reticulocytosis, Thrombocytopenia, Anemia, Optic disc pallor, Facial... |
OMIM:611490 |
| Cancer-Associated Retinopathy |
|
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... |
ORPHA:71505 |
| Fanconi Anemia, Complementation Group N |
|
Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Medulloblastoma, Nephroblastoma, Ve... |
OMIM:610832 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... |
ORPHA:229 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St... |
ORPHA:656 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L... |
ORPHA:514 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... |
ORPHA:324964 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pa... |
OMIM:615122 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Pancreatitis |
ORPHA:70578 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid... |
OMIM:264470 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| 3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Dilated cardiomyopathy, Congestive heart failure, Elevated circulating... |
OMIM:610198 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... |
OMIM:300635 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Skin rash, Auto... |
ORPHA:100026 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Inflammation of the large intestine, Hepatic failure, Myeloid leukemia, Cerebral hemor... |
ORPHA:331 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Inflammation of the large intestine, Increased circulating IgE level, Recurrent otit... |
OMIM:301000 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Glioma, Abnormal hair morphology, Anal atresia, Autoimmune hemolytic anemia, Low ... |
ORPHA:647 |
| Retinoblastoma |
|
Uveitis, Pineoblastoma, Glioma, Lymphoma, Hyphema, Subretinal pigment epithelium hemorrhage, Ewin... |
ORPHA:790 |
| Coccidioidomycosis |
|
Morbilliform rash, Abnormality of the spleen, Abscess, Abnormality of the kidney, Erythema nodosu... |
ORPHA:228123 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Decreased liver function, Congestive heart failure, Abnormal heart morph... |
ORPHA:70472 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Alopecia, Cardiomyopathy, Bundle branch block, Autoimmun... |
ORPHA:93672 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614196 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Hepatic steatosis, Arrhythmia, Cirrhosis, Anemia, Osteoarthritis, Hepatomegaly |
OMIM:606069 |
| Trimethylaminuria |
|
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension |
OMIM:602079 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Purple urine, Increased urinary porphobilinogen, Abnormal eryth... |
ORPHA:100924 |
| Kawasaki Disease |
|
Arrhythmia, Recurrent pharyngitis, Jaundice, Vasculitis, Sterile pyuria, Arthritis, Glossitis, Ch... |
ORPHA:2331 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Cardiac shunt, Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... |
ORPHA:733 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, P... |
OMIM:260400 |
| Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Multiple... |
ORPHA:220460 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Vasculitis, Skin rash |
OMIM:601979 |
| Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Lymphoma, Abnormal cardiovascular system physiology, Autoimmunity, Hepatic steato... |
ORPHA:79086 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Abnormal heart morphology, Horseshoe kidney, Pancyt... |
OMIM:227650 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... |
OMIM:616100 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Abnormal heart morphology, Horseshoe kidney, Pancyt... |
OMIM:600901 |
| Familial Adenomatous Polyposis 1 |
|
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... |
OMIM:175100 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Vasculitis, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Increased circ... |
OMIM:617099 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conce... |
OMIM:619386 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Rheumatoid factor positive, Atelectasis, Recurrent otitis media, Malar rash, ... |
OMIM:620321 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma |
OMIM:615593 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Cryptorchidism, Nephroblastoma, Renal cyst, Embryonal rhabdomyosarc... |
OMIM:257300 |
| Neurofibromatosis Type 1 |
|
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Plexiform neurofibroma... |
ORPHA:636 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Fine hair, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias... |
OMIM:619428 |
| Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Increased urinary porpho... |
OMIM:121300 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
| Classic Mycosis Fungoides |
|
Neoplasm of the skin, Alopecia, Eczematoid dermatitis, Lymphoma, Abnormal lymphocyte morphology, ... |
ORPHA:2584 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Macroglossia, Oligosacchariduria, Atelectasis, Hypertrophic cardiomyopathy, Dilatatio... |
ORPHA:365 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartat... |
OMIM:212140 |
| Gray Platelet Syndrome |
|
Epistaxis, Myelodysplasia, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:172 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... |
OMIM:620210 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... |
ORPHA:369 |
| Noonan Syndrome 2 |
|
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspi... |
OMIM:605275 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Rhabdomyosarcoma, Abnormal lung lobation, Vag... |
ORPHA:1052 |
| Rheumatoid Arthritis |
|
Vasculitis, Rheumatoid arthritis, Anti-citrullinated protein antibody positivity, Rheumatoid fact... |
OMIM:180300 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Verrucae, Eczematoid dermatitis, Intestinal lymphangiectasia, Sp... |
OMIM:620632 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Gastroesophageal reflux, Dicarboxylic aciduria, Hypertrophic cardiomyopathy,... |
OMIM:201475 |
| Opsoclonus-Myoclonus Syndrome |
|
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Autoimmune antibo... |
ORPHA:1183 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Pulmonary edema, Hematuria, Glomerulonephritis, Tubulointerstitial nephri... |
ORPHA:340 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... |
OMIM:269600 |
| Down Syndrome |
|
Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular ... |
OMIM:190685 |
| Dyskeratosis Congenita, X-Linked |
|
Premature graying of hair, Pancytopenia, Cryptorchidism, Sparse eyelashes, Hodgkin lymphoma, Acut... |
OMIM:305000 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Ascites, Pleural effusion, Diffuse leiomyomatosis, Hirsutism, Peritonit... |
ORPHA:314478 |
| Felty Syndrome |
|
Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph... |
ORPHA:47612 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... |
OMIM:603471 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Alopecia, Renal ... |
OMIM:137940 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ... |
ORPHA:124 |
| Retinoblastoma |
|
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Vitreous hemorrhage, Leukemia, Cleft palate, ... |
OMIM:180200 |
| Sapho Syndrome |
|
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... |
ORPHA:793 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Hyperlysinemia, Type I |
|
Anemia, Optic nerve hypoplasia |
OMIM:238700 |
| Cryptococcosis |
|
Pneumonia, Systemic lupus erythematosus, Osteomyelitis, Neoplasm, Pleural effusion, Nodular patte... |
ORPHA:1546 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Hepatomegaly |
OMIM:612526 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent... |
OMIM:607594 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity... |
OMIM:618495 |
| Congenital Disorder Of Glycosylation, Type It |
|
Recurrent otitis media, Hepatic steatosis, Ventricular septal defect, Elevated circulating alanin... |
OMIM:614921 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... |
OMIM:616433 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi... |
ORPHA:264580 |
| Cocaine Intoxication |
|
Pulmonary edema, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Intest... |
ORPHA:90068 |
| Mulibrey Nanism |
|
Microglossia, Congestive heart failure, Ascites, Nephroblastoma, Cardiomegaly, Pericardial constr... |
OMIM:253250 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, IgA deposition in the glomerulus, Anal fissure, Ankyloglossia, Urethral s... |
ORPHA:79408 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatic ste... |
ORPHA:2348 |
| Immunodeficiency 27A |
|
Pneumonia, Rheumatoid factor positive, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukoc... |
OMIM:209950 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
| 17Q11 Microdeletion Syndrome |
|
Glioma, Neurofibrosarcoma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Abnorma... |
ORPHA:97685 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating ... |
OMIM:618805 |
| Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Hepatosplenomegaly, Chilblains, Hepatic steatosis, Glomer... |
OMIM:619487 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Renal steatosis, Hepatic steatosis |
OMIM:261650 |
| Monosomy 22 |
|
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Seborrheic d... |
ORPHA:96123 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure,... |
ORPHA:79083 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Bone marrow hypocellularity, Renal agenesis, Horseshoe kidney, Panc... |
OMIM:227645 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decreased circulati... |
OMIM:613327 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Chronic myelomonocytic leukemia, Acute myeloid leukemia |
OMIM:616604 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:224100 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr... |
OMIM:618394 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Foam cells with lamellar inclusion bodies, Splenomegaly, Anemia, Thromboc... |
OMIM:607616 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Hepatomega... |
OMIM:115197 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Rheumatoid arthritis, Xerostomia, Antiphospholipid antibody positivity, Iridocyclitis, Tubulointe... |
ORPHA:227990 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E... |
ORPHA:79303 |
| Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hepatomega... |
OMIM:618234 |
| Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Furrowed tongue, Stom... |
ORPHA:2930 |
| Rothmund-Thomson Syndrome Type 1 |
|
Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Alopecia totalis, Funct... |
ORPHA:221008 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c... |
OMIM:619463 |
