Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia |
OMIM:616871 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... |
OMIM:614470 |
Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
Immunodeficiency 112 |
|
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia |
ORPHA:2688 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Lymphatic Malformation 8 |
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Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... |
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 |
|
Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Oligo... |
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 |
|
Polyhydramnios, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericardial effusion, A... |
ORPHA:1041 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Congenital Heart Block |
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Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, Peripheral edema, ... |
ORPHA:60041 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
Cantu Syndrome |
|
Bicuspid aortic valve, Lymphedema, Pericardial effusion, Congenital hypertrophy of left ventricle... |
OMIM:239850 |
Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
Autosomal Dominant Severe Congenital Neutropenia |
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Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis |
ORPHA:2414 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... |
OMIM:617300 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert... |
OMIM:613424 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... |
OMIM:615615 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Pulmonary edema, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular ... |
OMIM:115197 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis |
OMIM:619644 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Immunodeficiency 52 |
|
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... |
OMIM:617514 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... |
OMIM:212050 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Increased B c... |
OMIM:615559 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Limb hypertonia, Multiple muscular ventricular septal defects, Pericardial effusi... |
OMIM:620070 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, Monocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... |
OMIM:618986 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Righ... |
ORPHA:555874 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:517 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... |
OMIM:619313 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Atrial septal defect, Hydrops fetalis, Ascites |
OMIM:608776 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... |
OMIM:603909 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... |
OMIM:618963 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ... |
OMIM:612158 |
Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells |
OMIM:613493 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... |
OMIM:619802 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Intrauterine growth retardation, Pericardial effusion, Ventricular septal defect, Hypertrophic ca... |
OMIM:618775 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy |
OMIM:620089 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Polyhydramnios, Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial ... |
OMIM:620519 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pleural effusion, Ascites, Angioedema, Pericardial effusion |
ORPHA:36412 |
Congenital Enterovirus Infection |
|
Myocarditis, Polyhydramnios, Hydrops fetalis, Cardiomyopathy, Pleural effusion, Pericardial effus... |
ORPHA:292 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Spina bifida occulta, Lymphedema, Pleural effusion, Camptodactyly, ... |
OMIM:235510 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Lower eyeli... |
ORPHA:363705 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Peripheral edema, Pulmonary edema, Cardiomyopathy, Ascites, Pleural effusion, Hypertrophic cardio... |
OMIM:261740 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple... |
OMIM:269840 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... |
OMIM:226990 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... |
ORPHA:75564 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... |
OMIM:620565 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Dilated cardiomyopathy, Muscular dystrophy, Abnormal myocardium morphology |
ORPHA:300751 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Immunodeficiency 81 |
|
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... |
OMIM:619374 |
Primary Intestinal Lymphangiectasia |
|
Pleural effusion, Ascites, Generalized edema, Pericardial effusion, Edema |
ORPHA:90362 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Patent foramen ovale, Pericardial effusion, Exercise-induced rhabdomyolysis... |
ORPHA:26793 |
Alkuraya-Kucinskas Syndrome |
|
Pleural effusion, Camptodactyly, Pericardial effusion, Edema, Arthrogryposis multiplex congenita |
OMIM:617822 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
Acute Interstitial Pneumonia |
|
Peripheral edema, Pericardial effusion, Pleural effusion |
ORPHA:79126 |
Aicardi-Goutieres Syndrome 9 |
|
Ascites, Pericarditis, Pericardial effusion, Lower limb hypertonia, Left ventricular hypertrophy,... |
OMIM:619487 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia |
ORPHA:98827 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Alpha-Thalassemia |
|
Generalized edema, Pericardial effusion, Hydrops fetalis, Pleural effusion |
ORPHA:846 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Pleural effusion, Ascites, Pericardial effusion, Edema |
ORPHA:93552 |
Immunodeficiency 13 |
|
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Increased B cell count, Increased T cell count |
ORPHA:98813 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... |
OMIM:618280 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... |
OMIM:612541 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Pleural effusion, Pulmonary edema, Pedal edema |
ORPHA:199241 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... |
OMIM:607676 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Pericarditis, Pericardial effusion, Nonimmune hydrops fetalis, Flexion contractur... |
OMIM:212065 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pleural effusion, Ascites, Pericardial effusion, Anasarca |
OMIM:618183 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... |
OMIM:308240 |
Thrombocytopenia 2 |
|
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume |
OMIM:188000 |
Mu-Heavy Chain Disease |
|
Anemia, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
Poems Syndrome |
|
Edema, Pericardial effusion, Pleural effusion, Ascites |
ORPHA:2905 |
Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Abnormal T cell count, Abnormal B cell count |
OMIM:613496 |
Q Fever |
|
Myocarditis, Abnormal heart valve morphology, Pleural effusion, Pericarditis, Pericardial effusio... |
ORPHA:781 |
Gaucher Disease Type 3 |
|
Hydrops fetalis, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusio... |
ORPHA:77261 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Mitral valve prolapse, Umbilical hernia |
ORPHA:536532 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ... |
OMIM:620430 |
Alg9-Cdg |
|
Atrial septal defect, Hydrops fetalis, Torticollis, Abnormal left ventricular outflow tract morph... |
ORPHA:79328 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... |
ORPHA:169154 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Pleural effusion |
ORPHA:464329 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Lymphocytosis, Neutropenia in presence of anti-neutropil antibodies,... |
ORPHA:3261 |
Aicardi-Goutieres Syndrome 7 |
|
Limb hypertonia, Hypertrophic cardiomyopathy, Pericardial effusion, Edema, Oligohydramnios, Intra... |
OMIM:615846 |
Hennekam Syndrome |
|
Hydrops fetalis, Chylothorax, Lymphedema, Ascites, Pericardial effusion, Camptodactyly of finger |
ORPHA:2136 |
Myhre Syndrome |
|
Skeletal muscle hypertrophy, Camptodactyly, Aortic valve stenosis, Pericardial effusion, Generali... |
OMIM:139210 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... |
ORPHA:86843 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Pulmonary edema, Dilated cardiomyopathy |
ORPHA:73224 |
Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... |
OMIM:619652 |
Anal Fistula |
|
Leukocytosis |
ORPHA:228113 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:1272 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia |
ORPHA:514 |
Chédiak-Higashi Syndrome |
|
Edema, Pericardial effusion, Pleural effusion |
ORPHA:167 |
Lymphangioleiomyomatosis |
|
Chylothorax, Lymphedema, Ascites, Chylopericardium |
ORPHA:538 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Hepatosplenomegaly, Splenom... |
OMIM:620376 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
Generalized Arterial Calcification Of Infancy |
|
Hydrops fetalis, Polyhydramnios, Ventricular hypertrophy, Ascites, Pericardial effusion, Cardiome... |
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 |
|
Myocarditis, Pericardial effusion, Ascites |
ORPHA:99827 |
Hereditary Chronic Pancreatitis |
|
Leukocytosis |
ORPHA:676 |
Cardiomyopathy, Dilated, 1S |
|
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Interstitial ca... |
OMIM:613426 |
Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o... |
OMIM:208900 |
Pmm2-Cdg |
|
Lymphedema, Hypertrophic cardiomyopathy, Pericardial effusion, Pericarditis, Anasarca, Multiple j... |
ORPHA:79318 |
Sarcoidosis |
|
Anemia, Increased T cell count, Leukopenia, Thrombocytopenia, Eosinophilia, Hemolytic anemia |
ORPHA:797 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial steatosis, Tendon xanthomatosis, Abnormal tendon morphology |
ORPHA:391665 |