Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:312500 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anem... |
OMIM:603554 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin... |
ORPHA:158048 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Lymphadenopathy, Elevated circulating creatinine concentration, ... |
ORPHA:29073 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin |
ORPHA:3319 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... |
OMIM:267700 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia |
ORPHA:100025 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoim... |
ORPHA:444463 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypo... |
ORPHA:848 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenopathy, Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase conce... |
OMIM:615895 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... |
OMIM:603552 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... |
ORPHA:90041 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... |
ORPHA:100083 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... |
ORPHA:398063 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... |
OMIM:613101 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Neutrophilia, Abnorm... |
ORPHA:54251 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Increased total... |
OMIM:603553 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism |
OMIM:618165 |
Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Increased serum iron, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic... |
OMIM:235200 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Hyperuricemi... |
ORPHA:543 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Thyroid lym... |
OMIM:235255 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Splenomegal... |
ORPHA:1655 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Genital ulcers, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Pericardial effusion, Abnormal lymphatic vessel morphology, Anemia, Hypocalcemia... |
ORPHA:90362 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Follicular t... |
ORPHA:319487 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... |
OMIM:617514 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Spontaneous abortion, Abnormality of the lymph nodes |
OMIM:136580 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Chronic noni... |
ORPHA:97290 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Leptospirosis |
|
Hepatomegaly, Hyperproteinemia, Pericarditis, Lymphadenopathy, Thrombocytopenia |
ORPHA:509 |
Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Dextrocardia, Abnormal vagina morphology, Hypoproteinemia, Anemia, Abnormality of th... |
ORPHA:2315 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Increased ... |
OMIM:613011 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia |
OMIM:613977 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Epididymitis |
OMIM:608106 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia, Testicular atrophy, Bone marrow hypocellularity |
OMIM:613987 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, Co... |
OMIM:614034 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Increased circulating ferritin concentration, ... |
OMIM:618886 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... |
ORPHA:457083 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration, Erectile... |
ORPHA:481 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Anemia |
ORPHA:158014 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Male pseudohermap... |
OMIM:250790 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:507 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly |
OMIM:611762 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoproteinemia, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormality of the lymph nodes |
ORPHA:33111 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia, Cryptorchidism |
OMIM:608093 |
Desmoplastic Small Round Cell Tumor |
|
Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pan... |
ORPHA:83469 |
Immunodeficiency 72 With Autoinflammation |
|
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy |
OMIM:618982 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:545 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration, Decreased circulating c... |
OMIM:618838 |
Dengue Fever |
|
Hypoproteinemia, Thrombocytopenia, Hepatomegaly, Leukopenia |
ORPHA:99828 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protei... |
ORPHA:85414 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:79292 |
Gracile Syndrome |
|
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate |
OMIM:603358 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Thrombocytop... |
ORPHA:167 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Cinca Syndrome |
|
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-r... |
OMIM:607115 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
Trypsinogen Deficiency |
|
Hypoproteinemia |
OMIM:614044 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Hepatom... |
ORPHA:231222 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia |
OMIM:608184 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Isolated Anencephaly |
|
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia |
ORPHA:563609 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Infertility, Amenorrhea, Hypog... |
ORPHA:465508 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... |
ORPHA:158061 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Elevated circulating creatine kinase concentration, Decreased fertility |
OMIM:313200 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Immunodeficiency 55 |
|
Lymphadenopathy, Neutropenia |
OMIM:617827 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Hyperchol... |
ORPHA:247585 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Pericardial eff... |
ORPHA:26793 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Immunodeficiency 54 |
|
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer cell c... |
OMIM:609981 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia |
OMIM:256300 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated ci... |
ORPHA:85450 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophago... |
ORPHA:79477 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Priapism, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red c... |
OMIM:603903 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Increa... |
OMIM:613179 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Intermittent thrombocyto... |
OMIM:150550 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Hypercalcemia, Mediastinal lymphadenopathy, Neoplasm of the thymus, Incr... |
ORPHA:97289 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Absence of lymph node germinal... |
ORPHA:277 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Thrombocytopenia |
OMIM:618048 |
Primary Myelofibrosis |
|
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... |
OMIM:612561 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocyt... |
OMIM:308240 |
Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hepatomegaly, Adrenal insufficiency, Anisopoikilocytosis, Hypoparathyroid... |
ORPHA:231214 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... |
ORPHA:85451 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasi... |
ORPHA:231226 |
Rhabdoid Tumor |
|
Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Lymphadenopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly,... |
ORPHA:353298 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic anemia, H... |
OMIM:615122 |
Adult-Onset Still Disease |
|
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, ... |
ORPHA:829 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Spontaneous abortion, Hypercholesterolemia, Hypoalbuminemia, Inc... |
ORPHA:86816 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemi... |
OMIM:222300 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Bone-marrow foam cells, Cardiomyopathy, Splen... |
OMIM:256550 |
Lig4 Syndrome |
|
Leukocytosis, Hepatomegaly, Type II diabetes mellitus, Acute leukemia, Lymphadenopathy, Hypothyro... |
ORPHA:99812 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Castleman Disease |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Anemia, Generalized lym... |
ORPHA:160 |
Thyroid Lymphoma |
|
Goiter, Lymphadenopathy, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis |
ORPHA:97285 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
Tularemia |
|
Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Anemia, Cervical ly... |
ORPHA:3392 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:600649 |
Roifman Syndrome |
|
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Splenomeg... |
OMIM:616651 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... |
ORPHA:911 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, E... |
OMIM:619644 |
Agammaglobulinemia, X-Linked |
|
Cor pulmonale, Lymph node hypoplasia, Epididymitis, Prostatitis |
OMIM:300755 |
Omenn Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... |
ORPHA:39041 |
Cinca Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... |
ORPHA:1451 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Immunodeficiency 10 |
|
Lymphadenopathy, Thrombocytopenia, Autoimmune hemolytic anemia |
OMIM:612783 |
Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly |
ORPHA:391 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Azoospermi... |
OMIM:602782 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Hypothyroidism, Hypocalcemia, Paten... |
OMIM:601005 |
Griscelli Syndrome |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Abnormal circulating lipid concentration, Bone marrow ... |
ORPHA:381 |
Hemochromatosis, Neonatal |
|
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis |
OMIM:231100 |
Medullary Thyroid Carcinoma |
|
Lymphadenopathy, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevat... |
ORPHA:1332 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... |
ORPHA:276 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence |
ORPHA:85447 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta |
OMIM:617022 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hyperammonem... |
OMIM:212140 |
Felty Syndrome |
|
Hepatomegaly, Neutropenia, Pericarditis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia,... |
ORPHA:47612 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel... |
ORPHA:98850 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Danon Disease |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... |
OMIM:616100 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperprolinemia, Hepatomegaly, Cardiomegaly, Hyperalaninemia |
OMIM:619064 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Anemia, Autoimmune thrombocytopen... |
OMIM:304790 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:619183 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:613313 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Lymph... |
OMIM:618935 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... |
ORPHA:860 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, ... |
ORPHA:324410 |
American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly |
ORPHA:3386 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... |
ORPHA:540 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... |
ORPHA:101096 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Central hypothyroidism, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic ... |
ORPHA:514 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, HbH hemoglobin, Microcytic anemia, Cryptorchidism |
ORPHA:98791 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Middle Ear Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor |
ORPHA:100084 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytos... |
OMIM:618278 |
Pancreatoblastoma |
|
Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormality of the lymph nodes |
ORPHA:677 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased proportion of CD4+CD25+ regulator... |
OMIM:606367 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, L... |
ORPHA:169154 |
Poems Syndrome |
|
Thrombocytosis, Pericardial effusion, Polycythemia, Lymphadenopathy, Abnormality of the endocrine... |
ORPHA:2905 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy |
OMIM:617718 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Pericardial effusion, Lymphadenopathy, Elevated circulating creatinine concen... |
ORPHA:79126 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonemia |
OMIM:619051 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Tangier Disease |
|
Orange discolored tonsils, Coronary artery stenosis, Hypocholesterolemia, Anemia, Left ventricula... |
ORPHA:31150 |
H Syndrome |
|
Amenorrhea, Azoospermia, Lymphadenopathy, Hypogonadism, Micropenis, Hepatosplenomegaly, Microcyti... |
ORPHA:168569 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... |
OMIM:306955 |
Mogs-Cdg |
|
Hepatomegaly, Inappropriate antidiuretic hormone secretion, External genital hypoplasia, Cardiome... |
ORPHA:79330 |
Glycogen Storage Disease Ii |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Sézary Syndrome |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:142 |
Lymphatic Filariasis |
|
Lymphangiectasis, Vaginal hydrocele, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic... |
ORPHA:2035 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Lymphadenopathy, Elevated ... |
OMIM:610377 |
Proteus-Like Syndrome |
|
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... |
OMIM:618986 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
ORPHA:169090 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocy... |
OMIM:617591 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Carcinoid Syndrome |
|
Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Abnorma... |
ORPHA:100093 |
Legionnaires Disease |
|
Myocarditis, Hyponatremia, Pericarditis, Endocarditis, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:549 |
Familial Atrial Myxoma |
|
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma |
ORPHA:615 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ly... |
OMIM:614700 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Pericardial effusion |
ORPHA:411703 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnormality of the l... |
ORPHA:50918 |
Boutonneuse Fever |
|
Lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Leukopenia |
ORPHA:83313 |
Cyclic Neutropenia |
|
Lymphadenopathy, Lymphopenia, Cyclic neutropenia, Recurrent tonsillitis, Cervical lymphadenopathy... |
ORPHA:2686 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, Sea-blue ... |
OMIM:257200 |
Scrub Typhus |
|
Lymphadenopathy, Myocarditis, Splenomegaly |
ORPHA:83317 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
Mulibrey Nanism |
|
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Enlarged tonsils, Ab... |
OMIM:308230 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Ventricular septal defect, Hypochromic microcyti... |
OMIM:301040 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... |
ORPHA:766 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... |
OMIM:115197 |
Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Increased circulating galectin-3 level, Cardiomegaly, Abno... |
ORPHA:57777 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat... |
OMIM:617099 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Mixed Connective Tissue Disease |
|
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis, Leukopenia, Lymphadenopathy... |
ORPHA:809 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... |
OMIM:201475 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, Crypt... |
OMIM:141750 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... |
OMIM:214500 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Lymphadenopathy, Type I diabetes mellitus |
ORPHA:69126 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Metrorrhagia, Pancytopenia, Throm... |
ORPHA:520 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Lymphadenopathy, Splenomegaly, Abnormal heart valve morphology |
ORPHA:36412 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... |
ORPHA:3092 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Inappropriate antidiuretic hormone secretion, Absence of lymph node germinal center... |
ORPHA:79124 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Lymphadenopathy, Splenomegaly, Absent natural killer cells, Increased circulating fe... |
ORPHA:2442 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Pericarditis, Lymphadenopathy, Splenomegaly, Orchitis, Abnormal myocardium morpholo... |
ORPHA:32960 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Thrombocytosis, Leukopenia, Paratracheal lymphadenopathy, Anemia, Lymphopenia, Elevated circulati... |
OMIM:615934 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Klatskin Tumor |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:99978 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, ... |
OMIM:615688 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... |
ORPHA:100080 |
Carney Triad |
|
Adrenal overactivity, Adrenocortical adenoma, Mediastinal lymphadenopathy, Lymphadenopathy, Anemi... |
ORPHA:139411 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy, Elevated levels of phytanic acid |
OMIM:266500 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia, Hyperuricemia, Hyperuricosuria |
OMIM:300322 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Merkel cell skin cancer |
ORPHA:79140 |
Lead Poisoning |
|
Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol... |
ORPHA:330015 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolytic anemia, Lym... |
ORPHA:83471 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion |
OMIM:239850 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... |
ORPHA:37042 |
Q Fever |
|
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Endocarditis, Lymphadenopathy, Ane... |
ORPHA:781 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... |
ORPHA:53693 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis |
OMIM:616897 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Increased serum serotonin, Increased circ... |
ORPHA:97287 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy |
ORPHA:33276 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:608013 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence |
OMIM:268800 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... |
ORPHA:3261 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... |
ORPHA:2041 |
Blackfan-Diamond Anemia |
|
Hypospadias, Thrombocytosis, Ventricular septal defect, Elevated red cell adenosine deaminase lev... |
ORPHA:124 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormality of the male genitalia, Anemia, Abnormal hemoglobin, Ambiguous genitalia, Cryptorchidi... |
ORPHA:847 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Lymphopenia... |
ORPHA:93552 |
Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
Brucellosis |
|
Myocarditis, Leukocytosis, Thrombocytosis, Hepatomegaly, Pericarditis, Leukopenia, Endocarditis, ... |
ORPHA:1304 |
Fucosidosis |
|
Vacuolated lymphocytes, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:230000 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia |
ORPHA:391428 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy, Impotence |
OMIM:105210 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Eosinophilia |
ORPHA:139402 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... |
OMIM:305400 |
Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholesterol ... |
ORPHA:14 |
Malt Lymphoma |
|
Lymphadenopathy, Anemia, Abnormality of the thyroid gland, Mediastinal lymphadenopathy |
ORPHA:52417 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... |
ORPHA:100082 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Ventricular septal defect, Truncus arteriosus, Right ventricular hype... |
ORPHA:3384 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis |
OMIM:233710 |
Familial Pancreatic Carcinoma |
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Lymphadenopathy, Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Diabetes mellitus |
ORPHA:1333 |
Duodenal Neuroendocrine Tumor |
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Tricuspid stenosis, Iron deficiency anemia, Lymphadenopathy, Insulinoma, Paraganglioma, Pulmonic ... |
ORPHA:100076 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Dilated cardiomyopathy, Hepatomegaly, Decreased plasma free carnitine, Elevated circulating long ... |
OMIM:608836 |
Thymoma |
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Prostate neoplasm, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Neoplasm of ... |
ORPHA:99867 |
Neuroendocrine Tumor Of Stomach |
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Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Iron ... |
ORPHA:100075 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis |
OMIM:233690 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Hepatomegaly, Ventricular septal defect, Lymphadenopathy, Anemia, Splenomegaly, Accessory spleen,... |
OMIM:619418 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kina... |
ORPHA:228308 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Epididymitis, Cardiomegal... |
OMIM:256040 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
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Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Shwachman-Diamond Syndrome 1 |
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Hepatomegaly, Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Myocardia... |
OMIM:260400 |
Pulmonary Capillary Hemangiomatosis |
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Lymphadenopathy, Mediastinal lymphadenopathy, Pericardial effusion |
ORPHA:199241 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Lymphadenopathy, Hepatomegaly |
ORPHA:343 |
Common Variable Immunodeficiency |
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Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia |
ORPHA:1572 |
Hyper-Igd Syndrome |
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Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly |
OMIM:260920 |
Aorta Coarctation |
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Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... |
ORPHA:363705 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Neonat... |
ORPHA:96191 |
Leigh Syndrome With Nephrotic Syndrome |
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Cardiomegaly, Hypoalbuminemia |
ORPHA:255249 |
Immunodeficiency 87 And Autoimmunity |
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Dilated cardiomyopathy, Hepatomegaly, Cervical lymphadenopathy, Biventricular hypertrophy, Elevat... |
OMIM:619573 |
Melkersson-Rosenthal Syndrome |
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Lymphadenopathy |
ORPHA:2483 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... |
OMIM:600802 |
Pierson Syndrome |
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Hypoproteinemia |
OMIM:609049 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Cardiomegaly |
OMIM:613320 |
Waldenström Macroglobulinemia |
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Hepatomegaly, Normocytic anemia, Leukemia, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils |
ORPHA:33226 |
Ileal Neuroendocrine Tumor |
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Tricuspid stenosis, Small intestine carcinoid, Iron deficiency anemia, Increased serum serotonin,... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
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Tricuspid stenosis, Small intestine carcinoid, Iron deficiency anemia, Increased serum serotonin,... |
ORPHA:100077 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... |
ORPHA:439 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:157640 |
Congenital Disorder Of Glycosylation, Type It |
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Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... |
OMIM:614921 |
Mucolipidosis Ii Alpha/Beta |
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Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased serum beta-hexos... |
OMIM:252500 |
Rh Deficiency Syndrome |
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Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Spon... |
ORPHA:71275 |
Periodic Fever, Familial, Autosomal Dominant |
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Cervical lymphadenopathy, Hepatomegaly |
OMIM:142680 |
Beckwith-Wiedemann Syndrome |
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Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadoblastoma, Cardiomegaly, ... |
OMIM:130650 |
Marburg Hemorrhagic Fever |
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Hyperamylasemia, Pericarditis, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Ly... |
ORPHA:99826 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
Igg4-Related Submandibular Gland Disease |
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Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morphology, Lymphadenopathy, A... |
ORPHA:449432 |
Igg4-Related Kidney Disease |
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Abnormality of the anterior pituitary, Pericarditis, Prostatitis, Lymphadenopathy, Lymphadenitis,... |
ORPHA:449395 |
Graft Versus Host Disease |
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Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubinemia |
ORPHA:39812 |
Beckwith-Wiedemann Syndrome |
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Hypertrophic cardiomyopathy, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, G... |
ORPHA:116 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Lymphadenopathy, Anemia, Hypophosphatemia, Splenomegaly, Hypocalcemia, Abnormal pul... |
ORPHA:667 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Complete Atrioventricular Septal Defect |
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Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... |
ORPHA:1329 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Pineal cyst, Right vent... |
OMIM:300967 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... |
ORPHA:308552 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Abnormality of the thymus, Cardiomegaly |
ORPHA:2463 |
Juvenile Polyposis Syndrome |
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Hypoproteinemia, Rectocele, Neoplasm of the pancreas, Anemia |
ORPHA:2929 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Hypothyroidism |
ORPHA:349 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Increased serum iron, Increased circulating ferritin concentration, Decreased transferrin saturat... |
ORPHA:300298 |
Farber Disease |
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Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Anemia |
ORPHA:333 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Right ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase concentration |
ORPHA:268 |
Familial Mediterranean Fever |
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Lymphadenopathy, Orchitis, Pericarditis, Splenomegaly |
ORPHA:342 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Lymphangioleiomyomatosis |
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Chylopericardium, Abnormal morphology of female internal genitalia, Lymphadenopathy, Abnormality ... |
ORPHA:538 |
Selective Igm Deficiency |
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Thyroid carcinoma, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Lymphad... |
ORPHA:331235 |
Igg4-Related Ophthalmic Disease |
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Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Thyroiditis, Sialadenitis, O... |
ORPHA:449563 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, Hypothyroidism, T lymphoc... |
OMIM:607944 |
Crimean-Congo Hemorrhagic Fever |
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Myocarditis, Leukocytosis, Adrenal insufficiency, Hepatomegaly, Pericardial effusion, Leukopenia,... |
ORPHA:99827 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy |
OMIM:261740 |
Craniofaciofrontodigital Syndrome |
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Abnormal heart morphology, Cardiomegaly |
OMIM:114620 |
Neuroendocrine Neoplasm Of Appendix |
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Ovarian neoplasm, Hepatomegaly, Tricuspid stenosis, Increased serum serotonin, Primary hypercorti... |
ORPHA:100079 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomegaly, S... |
ORPHA:581 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
Malakoplakia |
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Prostate neoplasm, Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia |
ORPHA:556 |
Coccidioidomycosis |
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Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Pericarditis, ... |
ORPHA:228123 |
Sarcoidosis |
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Hypercalcemia, Hepatomegaly, Diabetes insipidus, Leukopenia, Increased T cell count, Abnormal rep... |
ORPHA:797 |
Hennekam Syndrome |
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Pulmonary lymphangiectasia, Pericardial effusion, Lymphadenopathy, Lymphangioma, Splenomegaly, Ly... |
ORPHA:2136 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
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Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Secondary amenorrhea, Atypical pulmonary carcinoid tumor, Small intestine ca... |
ORPHA:99889 |
Tropical Endomyocardial Fibrosis |
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Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... |
ORPHA:75565 |
Immunodeficiency 82 With Systemic Inflammation |
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B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... |
OMIM:619381 |
Aicardi-Goutières Syndrome |
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Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Cardiomegaly, Hepatosplenomegaly, Microp... |
ORPHA:51 |
Greenberg Dysplasia |
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Hepatomegaly, Bone marrow hypocellularity, Cardiomegaly, Pancreatic islet-cell hyperplasia, Hepat... |
OMIM:215140 |
Idiopathic Hypereosinophilic Syndrome |
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Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Myocardial eosinophilic infiltration, Anemi... |
ORPHA:3260 |
Multiple Endocrine Neoplasia Type 2 |
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Elevated circulating parathyroid hormone level, Hypercalcemia, Pheochromocytoma, Cervical lymphad... |
ORPHA:653 |
Behçet Disease |
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Pericarditis, Endocarditis, Lymphadenopathy, Splenomegaly, Orchitis, Abnormal myocardium morphology |
ORPHA:117 |
Naxos Disease |
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Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... |
OMIM:601214 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... |
OMIM:245600 |
Proteus Syndrome |
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Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Diabetes insipidus, Long penis, Neoplasm of... |
ORPHA:744 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Steinert Myotonic Dystrophy |
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Testicular atrophy, Non-medullary thyroid carcinoma, Dilated cardiomyopathy, Endometrial carcinom... |
ORPHA:273 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusi... |
OMIM:181000 |
Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Bohring-Opitz Syndrome |
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Abnormal cardiac septum morphology, Cardiomegaly, Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Abnormal salivary gland morphology, Lymphadenopathy, Nodular goiter, Abnormality of the submandib... |
ORPHA:79078 |
Primary Sjögren Syndrome |
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Normocytic anemia, Leukopenia, Lymphadenopathy, Normochromic anemia, Parotitis, Vaginal dryness, ... |
ORPHA:289390 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
Gallbladder Neuroendocrine Tumor |
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Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy |
ORPHA:100086 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism |
ORPHA:3063 |
Absence Of The Pulmonary Artery |
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Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... |
ORPHA:980 |
Kawasaki Disease |
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Myocarditis, Leukocytosis, Pericarditis, Double outlet right ventricle with subpulmonary ventricu... |
ORPHA:2331 |
Williams Syndrome |
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Bicuspid aortic valve, Overriding aorta, Hypertrophic cardiomyopathy, Hypercalcemia, Ventricular ... |
ORPHA:904 |
African Trypanosomiasis |
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Abnormal prolactin level, Myocarditis, Hepatomegaly, Infertility, Pericarditis, Abnormality of re... |
ORPHA:3385 |
Congenital Tracheomalacia |
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Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... |
ORPHA:95430 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Yunis-Varon Syndrome |
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Hypospadias, Hypoplastic labia majora, Ventricular septal defect, Cardiomegaly, Cardiomyopathy, C... |
ORPHA:3472 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Decreased circulating ferritin concentration, Abnormal blood inorganic cation concentration, Hype... |
ORPHA:309854 |
Blau Syndrome |
|
Abnormal salivary gland morphology, Pericarditis, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:90340 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... |
ORPHA:365 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... |
ORPHA:1677 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia |
OMIM:222470 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... |
ORPHA:99125 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Chikungunya |
|
Lymphadenopathy, Cervical lymphadenopathy |
ORPHA:324625 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Syndromic Diarrhea |
|
Abnormality of iron homeostasis, Panhypogammaglobulinemia |
ORPHA:84064 |
Generalized Arterial Calcification Of Infancy |
|
Recurrent spontaneous abortion, Myocardial calcification, Pericardial effusion, Ventricular hyper... |
ORPHA:51608 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... |
OMIM:182250 |