| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incr... |
ORPHA:101028 |
| Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:133180 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Menorrhagia, Impaired platelet aggregation |
OMIM:124900 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia |
OMIM:616176 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration |
OMIM:620478 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... |
OMIM:616738 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... |
OMIM:615285 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia |
ORPHA:295 |
| Beta-Thalassemia |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal hemoglobin... |
ORPHA:848 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thiamine-responsive... |
OMIM:249270 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Malaria |
|
Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:673 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Thrombocytopenia |
ORPHA:1980 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Kennedy Disease |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... |
ORPHA:481 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... |
OMIM:613011 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Menorrhagia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Menorrhagia |
OMIM:613554 |
| Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia |
ORPHA:2123 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:610539 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Stt3B-Cdg |
|
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Lymphopenia, Tetralogy of Fallot, Ventricu... |
OMIM:618624 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocytopenia, Myocardial fi... |
ORPHA:210136 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... |
OMIM:231200 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:614727 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia |
OMIM:619170 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Cryptorchidism, Hypomethioninemia, Atrial ... |
OMIM:614857 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia, Diabetes... |
ORPHA:49827 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Elevated circulating C-reactive prote... |
ORPHA:231111 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Decreased circulating T4 concentration, Elevated circulating creatinine concentr... |
OMIM:608104 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Cardiomyopathy, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly |
ORPHA:79312 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thr... |
OMIM:226990 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Anemia, Thrombocytopenia, Hepatome... |
ORPHA:27 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Impotence, Cardiomyopathy |
ORPHA:85447 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia |
OMIM:616744 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Wolfram Syndrome 1 |
|
Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Tes... |
OMIM:222300 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... |
OMIM:620603 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenital thrombocytop... |
OMIM:618886 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Leishmaniasis |
|
Hypoalbuminemia, Leukopenia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, ... |
ORPHA:507 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Euthyroid goiter |
ORPHA:3327 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Atelis Syndrome 1 |
|
Leukopenia, Ventricular septal defect, Hypothyroidism, Atrial septal defect, Thrombocytopenia, An... |
OMIM:620184 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... |
OMIM:210250 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Diabetes insipidus, Di... |
OMIM:598500 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Cardiomyopathy, Increased circulating ferritin concentration, De... |
ORPHA:465508 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... |
OMIM:617443 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... |
OMIM:308700 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creati... |
OMIM:300280 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:610333 |
| Amed Syndrome, Digenic |
|
Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Anemia, Hypoplasia of t... |
OMIM:619151 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Elevated circulating crea... |
OMIM:618775 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, ... |
ORPHA:290 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Cardiomyopathy, Hypertrophic cardiomyopathy, Endoc... |
OMIM:212140 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Anemia, Thrombocytopenia, Neutropenia, Hepatomegaly |
ORPHA:289916 |
| Mirage Syndrome |
|
Microphallus, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukopenia, Cryptorc... |
OMIM:617053 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... |
OMIM:308750 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Hyperalaninemia, Hyperprolinemia |
OMIM:619064 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Splenomegaly, A... |
ORPHA:398124 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Transaldolase Deficiency |
|
Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent foramen ovale, Ventr... |
OMIM:606003 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:616435 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... |
OMIM:619802 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:158061 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocy... |
OMIM:603554 |
| Babesiosis |
|
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia |
ORPHA:108 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial effusion |
OMIM:614702 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Pericarditis |
OMIM:152700 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Premature ovarian insufficiency, Thrombocytopenia |
OMIM:212350 |
| Fanconi Anemia, Complementation Group E |
|
Abnormal heart morphology, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, ... |
OMIM:600901 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... |
OMIM:300835 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Abnormal heart morphology, Pancytopenia, Cryptorchidism, Anemia, Reticulocytope... |
OMIM:227650 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... |
OMIM:603903 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hashimoto thyroiditis, Hyponatremia, Hypothyroidism, Thrombocytopenia |
ORPHA:83601 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:611490 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Cardiomyopathy, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hypera... |
ORPHA:292 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hype... |
OMIM:251110 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Thrombo... |
ORPHA:96181 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Propionic Acidemia |
|
Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Neutropenia, Thrombocytope... |
OMIM:606054 |
| Pelger-Huet Anomaly |
|
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Neutropenia, T... |
OMIM:169400 |
| Lig4 Syndrome |
|
Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Amenorrhea, Hypothyroidism, Thrombocytop... |
OMIM:606593 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Cryptorchidism, Ventricular septal defect, Elevated circulating creatine kinase conce... |
OMIM:301056 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... |
OMIM:613845 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Menorrhagia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Splenomegaly, Autoimmune hemolytic anemia, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Thrombocytopenia |
OMIM:615750 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:603553 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... |
ORPHA:57777 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly,... |
OMIM:601005 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Elevated circulating C-reactive protein c... |
ORPHA:457077 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... |
ORPHA:86839 |
| Myh9-Related Disease |
|
Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Menorrhagia, Increased... |
ORPHA:182050 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Hepat... |
OMIM:251000 |
| Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Hypo... |
ORPHA:79330 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Adrenal calcification, Adrenal insufficiency, Hepatosple... |
OMIM:278000 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia |
OMIM:150550 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Microcytic anemia, Abnormal mitral valve morphology, Thrombocytopeni... |
ORPHA:903 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa... |
OMIM:256550 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, D... |
ORPHA:42 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Anemia, Me... |
OMIM:277380 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Elevated circulating C-reactive protein conce... |
OMIM:619644 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolytic a... |
OMIM:301078 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... |
OMIM:613839 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... |
OMIM:617713 |
| Overlap Myositis |
|
Abnormal circulating lipid concentration, Abnormal heart morphology, Leukopenia, Elevated circula... |
ORPHA:206572 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Hyperammonemia, Eleva... |
OMIM:201475 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c... |
ORPHA:99901 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Hypogonadism, Ventricular septal defect, Thrombocytopenia, Micropenis, Hypergona... |
OMIM:300514 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Thrombocytopen... |
ORPHA:100026 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... |
ORPHA:3427 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Splenomegaly, Ventricular septal defect, Elevated circulating creatine kinase conce... |
OMIM:614576 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c... |
ORPHA:3226 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splen... |
OMIM:612541 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Type I diabetes mellitus, Thrombocytopenia, Polycy... |
ORPHA:275555 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypothyroidism, ... |
OMIM:304790 |
| Noonan Syndrome 4 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Thr... |
OMIM:610733 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Conjugated hyperbilirubinemia |
ORPHA:294 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Thrombocytopenia, B lymphocytopenia, Elevated circulating... |
OMIM:618048 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Isolated Agammaglobulinemia |
|
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia |
ORPHA:229717 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,... |
OMIM:620609 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepat... |
OMIM:230800 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Increased circulating ferri... |
ORPHA:77259 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
ORPHA:85212 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Transient hyper... |
OMIM:255120 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Nephrogenic diabetes insip... |
OMIM:208085 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... |
OMIM:301110 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Rhabdoid Tumor |
|
Anemia, Hypercalcemia, Thrombocytopenia |
ORPHA:69077 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegal... |
ORPHA:381 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia |
OMIM:617475 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Dengue Fever |
|
Hepatomegaly, Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Leukopenia, Hypersplenism, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A... |
ORPHA:64743 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Ventricular septal defect, Anemia, Reticulocytopenia, Neutropenia, ... |
OMIM:227645 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Thrombocytopenia, Ventricular septal defect |
OMIM:619980 |
| Fanconi Anemia, Complementation Group F |
|
Microphallus, Decreased response to growth hormone stimulation test, Leukopenia, Cryptorchidism, ... |
OMIM:603467 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... |
OMIM:620642 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:540 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... |
ORPHA:811 |
| Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Metrorrhagia, Absent platelet dense granules, Thromboc... |
OMIM:614074 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hypospadias |
OMIM:616897 |
| Immune Thrombocytopenia |
|
Abnormal vaginal bleeding, Thrombocytopenia |
ORPHA:3002 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:266500 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... |
OMIM:185070 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated circulating creatine kinase ... |
OMIM:610377 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly, Anemia, Atrial septal def... |
OMIM:617303 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Anemia, ... |
ORPHA:77261 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... |
OMIM:601399 |
| Pediatric-Onset Graves Disease |
|
Graves disease, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circulating free T... |
ORPHA:525731 |
| Felty Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly... |
ORPHA:47612 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia, Menorrhagia |
OMIM:620484 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia |
OMIM:611126 |
| Smith-Kingsmore Syndrome |
|
Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation |
OMIM:277480 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circulat... |
OMIM:620306 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Giant platelets, Cryptorchidism, Left ventricular hypertrophy, Thrombocytopenia, Anemia, Hypospadias |
OMIM:611209 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Thrombocytopenia, Neutropenia, Hepatomegal... |
OMIM:251100 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Hypothyroidism... |
OMIM:614700 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... |
OMIM:300257 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Cryptorchidism, Ventricular septal def... |
ORPHA:261250 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... |
OMIM:602782 |
| Avian Influenza |
|
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... |
ORPHA:454836 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia |
OMIM:259710 |
| Snakebite Envenomation |
|
Hypopituitarism, Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia, Cardiomyopathy |
OMIM:617710 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia |
ORPHA:391428 |
| Takenouchi-Kosaki Syndrome |
|
Cryptorchidism, Thrombocytopenia, Abnormal cardiac septum morphology, Hypospadias, Pulmonic steno... |
OMIM:616737 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Cardiom... |
OMIM:618278 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... |
OMIM:235400 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating leptin concentration, Insulin-resistan... |
ORPHA:2298 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Leukemia, Abnormal heart morphology, Pancytopenia, Cryptorchidism, Anemia, Reti... |
OMIM:227646 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:259700 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocytic anemia, Neutropenia, Thromb... |
OMIM:613990 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets |
OMIM:614473 |
| Wilson Disease |
|
Abnormality of the menstrual cycle, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
ORPHA:905 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Lymphop... |
OMIM:242900 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Increased T cell count, ... |
OMIM:620376 |
| Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration |
ORPHA:3240 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Diffuse Alveolar Hemorrhage |
|
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Cr... |
OMIM:617052 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Tularemia |
|
Anemia, Leukocytosis, Thrombocytopenia |
ORPHA:3392 |
| Prolidase Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:170100 |
| Alg12-Cdg |
|
Hypoalbuminemia, Biventricular hypertrophy, Muscular ventricular septal defect, Hypocholesterolem... |
ORPHA:79324 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent foramen ovale |
OMIM:251290 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Aplasia of the uterus, Thrombocytopenia, Abnormal cardiac septum morphology |
ORPHA:3320 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Pancytopenia, Leukocytosis, Metrorrhagia, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypocalcemia, Ventricular septal defect, ... |
ORPHA:163979 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Anemia, Abnormal spleen morphology, Thrombocytope... |
ORPHA:464329 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine... |
ORPHA:228308 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... |
OMIM:305400 |
| X-Linked Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia |
ORPHA:47 |
| Aicardi-Goutieres Syndrome 1 |
|
Cardiomyopathy, Splenomegaly, Hypothyroidism, Thrombocytopenia, Hepatomegaly, Diabetes insipidus |
OMIM:225750 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Anemia, Abnormal lympho... |
ORPHA:79124 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Secundum atrial septal defect, Thrombocytopenia |
OMIM:617397 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,... |
OMIM:608836 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Type I diabetes mellitus, Sideroblastic anemia, Pancytopenia, Hyperbilirubine... |
OMIM:557000 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, H... |
ORPHA:470 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased circula... |
OMIM:232300 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Tangier Disease |
|
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, ... |
ORPHA:31150 |
| Catastrophic Antiphospholipid Syndrome |
|
Microangiopathic hemolytic anemia, Abnormal heart valve morphology, Coombs-positive hemolytic ane... |
ORPHA:464343 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, N... |
OMIM:260400 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra... |
OMIM:214500 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia, Hypertriglyceridemia, Hepatomegaly |
OMIM:617591 |
| Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia |
ORPHA:79242 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Elevated circulating creatine ki... |
OMIM:614921 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, Noncompaction cardiomyopathy, Reticulocytopenia, B lymphocytopenia, Neut... |
ORPHA:508542 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... |
OMIM:608233 |
| Pearson Syndrome |
|
Pancytopenia, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic spleen... |
ORPHA:699 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hyper... |
OMIM:259720 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Elevated circu... |
OMIM:251880 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:608013 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
ORPHA:169090 |
| Castleman Disease |
|
Restrictive cardiomyopathy, Elevated circulating C-reactive protein concentration, Thrombocytopen... |
ORPHA:160 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Lymphopenia, Abnormality of thyroid physiology, Hyperli... |
ORPHA:1830 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
| Q Fever |
|
Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly, Anemia, Thrombocytopenia, Myoc... |
ORPHA:781 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Lymphopenia, Pancytopenia, Leukopenia, Ventricular septal defect, Bicusp... |
OMIM:620654 |
| Vexas Syndrome |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Alg8-Cdg |
|
Anemia, Hyponatremia, Thrombocytopenia |
ORPHA:79325 |
| Fanconi Anemia |
|
Abnormality of the uterus, Hypogonadism, Hypertrophic cardiomyopathy, Azoospermia, Tetralogy of F... |
ORPHA:84 |
| Immunodeficiency 22 |
|
Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Pericarditis |
OMIM:615758 |
| Down Syndrome |
|
Secundum atrial septal defect, Polycythemia, Tetralogy of Fallot, Atrioventricular canal defect, ... |
ORPHA:870 |
| Jacobsen Syndrome |
|
Annular pancreas, Cryptorchidism, Ventricular septal defect, Labial hypoplasia, Atrial septal def... |
OMIM:147791 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... |
ORPHA:36234 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... |
ORPHA:308552 |
| Immunodeficiency 40 |
|
Hepatomegaly, T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration... |
ORPHA:77293 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid... |
ORPHA:96191 |
| Immunodeficiency 87 And Autoimmunity |
|
Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal defect, Lymphopenia, De... |
OMIM:619573 |
| Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, Pericardial effusion |
ORPHA:93552 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Leuk... |
ORPHA:505248 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence |
OMIM:268800 |
| Brucellosis |
|
Epididymitis, Hypersplenism, Leukopenia, Splenomegaly, Abnormal aortic valve morphology, Orchitis... |
ORPHA:1304 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Megaloblastic anemia, Hyperuricemia |
OMIM:300322 |
| Adams-Oliver Syndrome |
|
Tetralogy of Fallot, Leukopenia, Abnormal pulmonary valve morphology, Thrombocytopenia |
ORPHA:974 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega... |
OMIM:130650 |
| Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Neutro... |
ORPHA:90051 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa... |
OMIM:619991 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Fucosidosis |
|
Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration |
ORPHA:268 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Hepatomegaly, Thrombocytopenia, Micropenis, Decreased hemoglobin concentration |
OMIM:619005 |
| Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... |
OMIM:222700 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hyperechogenic pancreas, Thrombocytopenia, Neutropenia, Hepatomegaly |
OMIM:617941 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Impotence, Cardiomyopathy |
OMIM:105210 |
| Good Syndrome |
|
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... |
ORPHA:169105 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Atrial septal defect, Thrombocytopenia |
ORPHA:457351 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Patent fo... |
ORPHA:391487 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Gaucher Disease |
|
Aortic valve calcification, Splenic infarction, Cholelithiasis, Decreased HDL cholesterol concent... |
ORPHA:355 |
| Ivic Syndrome |
|
Tetralogy of Fallot, Rectovaginal fistula, Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Cryptorchidism, Patent foramen ovale, Hy... |
OMIM:620005 |
| Toxic Epidermal Necrolysis |
|
Abnormal vagina morphology, Abnormal myocardium morphology, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:537 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Lathosterolosis |
|
Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis, Hepatomegaly, Hypoplasia of ... |
ORPHA:46059 |
| Dyskeratosis Congenita |
|
Abnormal morphology of female internal genitalia, Splenomegaly, Displacement of the urethral meat... |
ORPHA:1775 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... |
ORPHA:94093 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Thrombocytopenia, Neutropenia, Hepatomegaly, Hemolytic anemia |
OMIM:308230 |
| Cyclic Neutropenia |
|
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Hypoplastic nipples, Atrial septal defect, Thrombocytopenia |
ORPHA:261323 |
| Ivic Syndrome |
|
Rectovaginal fistula, Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Lujo Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration, Thr... |
ORPHA:319213 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Anemia, Secundum atrial septal defect, Thrombocytopenia |
OMIM:620072 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... |
ORPHA:90038 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Polycythemia, Decreased testicular size, Hyperbilirubinemia, Crypt... |
OMIM:300855 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Elevated hepatic iron concentration, Thrombocytopenia |
OMIM:614946 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Abnormal heart m... |
ORPHA:79282 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Hypertrophic cardiomyopathy, Pancytopenia, Hemolyti... |
OMIM:615846 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Leukocytosis, Hyponatremia, Splenic abscess, Thrombocytopenia,... |
ORPHA:810 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... |
ORPHA:99826 |
| Neuroblastoma |
|
Anemia, Elevated circulating catecholamine level, Thrombocytopenia, Increased circulating ferriti... |
ORPHA:635 |
| Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptorchidism, Decrea... |
OMIM:619004 |
| Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Elevated circulating uroporphyrin concentration, Reduced erythrocyte uroporphyrin... |
OMIM:263700 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets |
OMIM:208000 |
| Stevens-Johnson Syndrome |
|
Dyspareunia, Abnormal myocardium morphology, Thrombocytopenia, Anemia, Abnormality of neutrophils |
ORPHA:36426 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Pancytopenia, Hemolytic anemia, Leukopenia, Reticulocyt... |
ORPHA:447 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Thrombocytopeni... |
OMIM:620185 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop... |
OMIM:300972 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... |
OMIM:300967 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormal heart morphology, Thrombocytopenia, Hyperbilirubinemia, Hypertrophic cardiomyopathy |
ORPHA:464321 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Abnormality of the menstrual cycle, Microcytic an... |
ORPHA:906 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hyperglycinemia, Hypernatremia, Partial atrioventricular canal defect, Thrombocytopenia |
OMIM:620423 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:3322 |
| Caroli Syndrome |
|
Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, Abnormal ductus choledochus morpholo... |
ORPHA:480520 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... |
ORPHA:3384 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Cornelia De Lange Syndrome 1 |
|
Hypoplastic male external genitalia, Cryptorchidism, Ventricular septal defect, Hypoplastic nippl... |
OMIM:122470 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Abnormality of thrombocytes, Abnormality of the uterus, Tetralogy of Fallot, Abno... |
ORPHA:567 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Dubowitz Syndrome |
|
Abnormal female external genitalia morphology, Cryptorchidism, Anemia, Thrombocytopenia, Hypopara... |
ORPHA:235 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Parotitis... |
OMIM:256040 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Thrombocytopenia,... |
OMIM:277400 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia, Cardiomyopathy |
ORPHA:572798 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... |
ORPHA:79277 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
| Ebola Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:319218 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:230900 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Increased circulating copper con... |
OMIM:277900 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Enlargement of parotid gland, Splenomegaly, Anemia, Lymphocytosis, Elevated circulati... |
ORPHA:50918 |
| Crimean-Congo Hemorrhagic Fever |
|
Neutrophilia, Parotitis, Adrenal insufficiency, Pancytopenia, Leukopenia, Splenomegaly, Leukocyto... |
ORPHA:99827 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Thrombocytopenia, Abnormality... |
ORPHA:487796 |
| Tick-Borne Encephalitis |
|
Leukopenia, Leukocytosis, Abnormal myocardium morphology, Thrombocytopenia, Elevated circulating ... |
ORPHA:297 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anemi... |
ORPHA:2785 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia, Myocarditis |
ORPHA:499009 |
| Dyskeratosis Congenita, X-Linked |
|
Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism, Phimosis, Acute myeloid leuk... |
OMIM:305000 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophi... |
ORPHA:3260 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular... |
OMIM:274000 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat... |
OMIM:617718 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Adrenocor... |
ORPHA:116 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Recon Progeroid Syndrome |
|
Anemia, Thrombocytopenia |
OMIM:620370 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Farber Disease |
|
Anemia, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:333 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Abnormality of the spleen, He... |
ORPHA:2072 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Cryptorchidism, Ventricular sept... |
ORPHA:2308 |
| Fibular Hemimelia |
|
Abnormal heart morphology, Thrombocytopenia |
ORPHA:93323 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega... |
ORPHA:51 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hep... |
OMIM:252500 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Splenomegaly, Ovarian cyst, Ventricu... |
OMIM:188400 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
| Hardikar Syndrome |
|
Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Splenomegaly, Patent foramen ovale, Ventri... |
OMIM:301068 |
| Fucosidosis |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Thrombocytopenia |
OMIM:301050 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Myocarditis, Hyperkalemia, Hemolytic ... |
ORPHA:544482 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Splenic cyst, Cryptorchidism, Patent foramen ovale |
OMIM:620371 |
| Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cardiomegaly, A... |
ORPHA:581 |
| Hellp Syndrome |
|
Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang... |
ORPHA:244242 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... |
ORPHA:534 |
| Bcard Syndrome |
|
Thrombocytopenia |
OMIM:612394 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries |
ORPHA:137675 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Type I diabetes mellitus, Tetralogy of Fallot, Microcytic anemia, Splenomegaly, Ventricular septa... |
OMIM:619525 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Hypogonadism, Hypertrophic cardiomyopathy, Cryptorchidism, Vent... |
OMIM:163950 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Decreased response to growt... |
ORPHA:273 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Le... |
ORPHA:365 |
| Roberts Syndrome |
|
Clitoral hypertrophy, Long penis, Cryptorchidism, Thrombocytopenia |
ORPHA:3103 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Premature ovarian insufficiency... |
OMIM:251260 |
| Yellow Fever |
|
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukoc... |
ORPHA:99829 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism |
ORPHA:3063 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatosplenomegaly, Hypersplenism, Splenomegaly, Increased serum bile acid concentration, Hyponat... |
ORPHA:731 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:301072 |
| Williams Syndrome |
|
Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular... |
ORPHA:904 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def... |
ORPHA:3472 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Thrombocytopenia |
OMIM:612199 |
| Sarcoidosis |
|
Enlarged lacrimal glands, Parotitis, Leukopenia, Hypercalcemia, Enlargement of parotid gland, Abn... |
ORPHA:797 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Parotitis, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helpe... |
ORPHA:289390 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... |
ORPHA:340 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Rift Valley Fever |
|
Anemia, Thrombocytopenia |
ORPHA:319251 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... |
ORPHA:79078 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia |
ORPHA:647 |
| Leptospirosis |
|
Hepatomegaly, Hyperproteinemia, Thrombocytopenia, Pericarditis |
ORPHA:509 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia, Abnormal endocardium morphology, Mitral valve prolapse |
ORPHA:666 |
| Acute Liver Failure |
|
Adrenal insufficiency, Hyperammonemia, Thrombocytopenia |
ORPHA:90062 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane... |
OMIM:224120 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Adrenal calcification, Hypophosphatemic rickets, Pancreatic calcificatio... |
ORPHA:51608 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
