Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pleural e... |
OMIM:614702 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells |
OMIM:618982 |
Hydrops Fetalis |
|
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... |
ORPHA:1041 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Congenital Heart Block |
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Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, P... |
ORPHA:60041 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... |
OMIM:239850 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Pleural effusion, Hydrops fetalis, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect... |
OMIM:115197 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis |
OMIM:619644 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Multiple muscular ventricular septal defects, Limb hypertonia, Atrial septal defect, Polyhydramni... |
OMIM:620070 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... |
ORPHA:555874 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... |
OMIM:619313 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Hydrops fetalis, Pericardial effusion, Atrial septal defect |
OMIM:608776 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... |
OMIM:612158 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count |
OMIM:613493 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericardial effusion, Ventricular s... |
OMIM:618775 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... |
OMIM:620519 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:620089 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion |
ORPHA:36412 |
Congenital Enterovirus Infection |
|
Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrops fetalis, Pe... |
ORPHA:292 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Umbilical hernia, Lymphedema, Pleural effusion, Ventricular septal... |
OMIM:235510 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Lower eyelid edema, Abnormal heart valve morphology, Ventricular septal de... |
ORPHA:363705 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Anasarca, Cardiomyopathy, Biventricular hypertrophy, Ascites, Hypertrophic cardiomy... |
OMIM:261740 |
Immunodeficiency 48 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... |
OMIM:269840 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... |
OMIM:620565 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Muscular dystrophy, Dilated cardiomyopathy, Abnormal myocardium morphology |
ORPHA:300751 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... |
OMIM:619374 |
Primary Intestinal Lymphangiectasia |
|
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Edema |
ORPHA:90362 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen ovale, Ventricular septal... |
ORPHA:26793 |
Alkuraya-Kucinskas Syndrome |
|
Pleural effusion, Camptodactyly, Pericardial effusion, Arthrogryposis multiplex congenita, Edema |
OMIM:617822 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Peripheral edema, Pleural effusion |
ORPHA:79126 |
Aicardi-Goutieres Syndrome 9 |
|
Lower limb hypertonia, Ascites, Intrauterine growth retardation, Left ventricular hypertrophy, Pe... |
OMIM:619487 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Pediatric Systemic Lupus Erythematosus |
|
Ascites, Pleural effusion, Myositis, Pericardial effusion, Edema |
ORPHA:93552 |
Alpha-Thalassemia |
|
Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion |
ORPHA:846 |
Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... |
OMIM:618280 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased T cell count, Increased B cell count |
ORPHA:98813 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Pericardial effusion, Pleural effusion, Pedal edema |
ORPHA:199241 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Flexion contracture, Edema, Peri... |
OMIM:212065 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion |
OMIM:618183 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Poems Syndrome |
|
Ascites, Pericardial effusion, Pleural effusion, Edema |
ORPHA:2905 |
Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count |
OMIM:613496 |
Q Fever |
|
Abnormal heart valve morphology, Pleural effusion, Myocarditis, Pericardial effusion, Endocarditi... |
ORPHA:781 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... |
ORPHA:77261 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Mitral valve prolapse, Umbilical hernia |
ORPHA:536532 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... |
OMIM:620430 |
Alg9-Cdg |
|
Hypoplasia of the musculature, Abnormal heart morphology, Oligohydramnios, Ventricular septal def... |
ORPHA:79328 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Pleural effusion |
ORPHA:464329 |
Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... |
ORPHA:3261 |
Aicardi-Goutieres Syndrome 7 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Limb hypertonia, P... |
OMIM:615846 |
Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Pericardial effusion, Hydrops fetalis |
ORPHA:2136 |
Myhre Syndrome |
|
Aortic valve stenosis, Skeletal muscle hypertrophy, Intrauterine growth retardation, Ventricular ... |
OMIM:139210 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pulmonary edema, Dilated cardiomyopathy, Pericardial effusion |
ORPHA:73224 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
Anal Fistula |
|
Leukocytosis |
ORPHA:228113 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Camptodactyly, Congenital diaphragmatic hernia, Pericarditis |
ORPHA:1272 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia |
ORPHA:514 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
ORPHA:167 |
Lymphangioleiomyomatosis |
|
Ascites, Chylothorax, Chylopericardium, Lymphedema |
ORPHA:538 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Danon Disease |
|
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... |
OMIM:300257 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopenia, Anemia,... |
OMIM:620376 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:601494 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Ascites, Pericardial effusion, Cardiomegaly, Polyhydramnios, Hydrops fet... |
ORPHA:51608 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:181000 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion |
ORPHA:91347 |
Gitelman Syndrome |
|
Pericardial effusion, Rhabdomyolysis |
ORPHA:358 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Crimean-Congo Hemorrhagic Fever |
|
Ascites, Pericardial effusion, Myocarditis |
ORPHA:99827 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... |
OMIM:613426 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis |
OMIM:260400 |
Pmm2-Cdg |
|
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Pericardial effus... |
ORPHA:79318 |
Amoebiasis Due To Free-Living Amoebae |
|
Cerebral edema, Facial palsy, Myocardial necrosis |
ORPHA:68 |
Sarcoidosis |
|
Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:797 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial steatosis, Abnormal tendon morphology, Tendon xanthomatosis |
ORPHA:391665 |