| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia, Ambiguous genitalia |
OMIM:209970 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Eosinophilia, Familial |
|
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... |
OMIM:133180 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
| Transaldolase Deficiency |
|
Anemia, Abnormality of the clitoris, Atrial septal defect, Hepatosplenomegaly, Biventricular hype... |
ORPHA:101028 |
| 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 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly |
ORPHA:721 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia |
OMIM:616176 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
| Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasi... |
ORPHA:848 |
| Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Anemia, Thrombocytopenia |
ORPHA:295 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatomegaly... |
OMIM:603552 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Sideroblastic anemia, Atrial septal defect, Thiamine-responsive megalo... |
OMIM:249270 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly |
ORPHA:1980 |
| Kennedy Disease |
|
Decreased fertility, Abnormal circulating lipid concentration, Type II diabetes mellitus, Erectil... |
ORPHA:481 |
| Hemochromatosis, Type 1 |
|
Increased serum iron, Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Increased ci... |
OMIM:235200 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Congenital thrombocytopenia, Hydrocele testis, Thrombocytopenia, Neutropenia |
OMIM:616738 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration,... |
OMIM:617713 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia, Hypoplastic anemia |
OMIM:194350 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase ... |
OMIM:618838 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Hypercalcemia, Hepatomegaly, Thrombocytopenia, Abnormal vagina morphology |
ORPHA:2123 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... |
OMIM:613101 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
OMIM:613011 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Prostate cancer, ... |
ORPHA:158057 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Menorrhagia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Menorrhagia |
OMIM:613554 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Stt3B-Cdg |
|
Thrombocytopenia, Small scrotum, Micropenis, Cryptorchidism |
ORPHA:370924 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia, Small scrotum, Micropenis, Cryptorchidism |
OMIM:615597 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia, Ventricular septal defect |
OMIM:617021 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
| Lig4 Syndrome |
|
Hypothyroidism, Pancytopenia, Cryptorchidism, Thrombocytopenia, Micropenis, Amenorrhea |
OMIM:606593 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepat... |
OMIM:600649 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Ventricular septal defect, Lymphopenia, Th... |
OMIM:618624 |
| Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia... |
ORPHA:98826 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
ORPHA:858 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Pancytopenia, Increased circulating ferritin concentra... |
OMIM:616050 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Pericardial effusion, Elevated circulating creatine kinase concentration, Pericarditis, I... |
ORPHA:231111 |
| Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Menorrhagia, Giant platelets, Thrombocytopenia, Impaired ristocetin-induce... |
OMIM:231200 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Hepatomegaly, Elevated circulating creatine kinase concentration |
OMIM:614727 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Atrial septal defect, Elevated ci... |
OMIM:614857 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Diabetes mellitus, Thrombo... |
ORPHA:49827 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect |
OMIM:619170 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, Cardiomyopathy |
ORPHA:79312 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Anemia, Perimembranous ventricular septal defect, Decreased circulating T4 concen... |
OMIM:608104 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration, Myocardial fi... |
ORPHA:210136 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Hyperammonemia, Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Cardiomyop... |
ORPHA:27 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Testicular atroph... |
OMIM:222300 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Preeclampsia |
|
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia, Polycy... |
ORPHA:275555 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Thrombocytopenia, Pancytopenia |
OMIM:613987 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Impotence, Cardiomyopathy |
ORPHA:85447 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenital thro... |
OMIM:618886 |
| Sitosterolemia 1 |
|
Reduced haptoglobin level, Stomatocytosis, Anemia, Giant platelets, Reticulocytosis, Impaired pla... |
OMIM:210250 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Hepatomegaly, Thrombocytopenia,... |
ORPHA:507 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP... |
ORPHA:85451 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Wolfram Syndrome, Mitochondrial Form |
|
Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopen... |
OMIM:598500 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... |
OMIM:618652 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Abnormality of iron homeostasis, Elevated transferrin saturation, Infertility, Er... |
ORPHA:465508 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Menorrhagia, Thrombocyt... |
OMIM:617443 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Neutropenia, Pancytopenia, Lymphopenia |
ORPHA:859 |
| Timothy Syndrome |
|
Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetr... |
OMIM:601005 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Ambiguous genitalia, Cryptorchidism |
ORPHA:1237 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Thrombocytopenia, Adrenal hypoplasia, Hypoplasia of t... |
OMIM:619151 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Elevated circulating creatine kinase concentrati... |
OMIM:618775 |
| Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610333 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Congenital Rubella Syndrome |
|
Anemia, Ventricular septal defect, Type I diabetes mellitus, Atrial septal defect, Hepatomegaly, ... |
ORPHA:290 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Decreased plasma carnitine, Elevated circulating creatine kinase concentration, H... |
OMIM:212140 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Increased circulating ferritin concentra... |
ORPHA:158061 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Hepatomegaly |
OMIM:619064 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Shawl scrotum, Decreased testicular size, Microphallus, Adrenal insufficiency... |
OMIM:617053 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:231000 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis |
ORPHA:54057 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired collagen-related peptide-induced platelet aggregation, Hemolytic anemia,... |
OMIM:153670 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Hypoproteinemia, H... |
OMIM:603554 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Menorrhagia, T... |
OMIM:139090 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Leukopenia, Thrombocytopenia, Hemolytic anemia |
OMIM:152700 |
| Transaldolase Deficiency |
|
Patent foramen ovale, Anemia, Ventricular septal defect, Atrial septal defect, Hepatosplenomegaly... |
OMIM:606003 |
| Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Pancytopenia, Abnormal heart morph... |
ORPHA:398124 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... |
OMIM:300835 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Hypogonadism, Erythroid hypoplasia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Abnormal heart morphology, Hypergonadotropic hypogonadis... |
OMIM:600901 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia, Hepatomegaly, Thrombocytopen... |
OMIM:251000 |
| Babesiosis |
|
Leukopenia, Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:108 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Neutropenia, Abnormal macrophage morphology, Pericardial effusion, Hyperammon... |
ORPHA:292 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Male infertility, Abnormal heart morphology, Hypergonado... |
OMIM:227650 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
OMIM:614702 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Hyperammonemia, Hep... |
OMIM:255120 |
| Sickle Cell Disease |
|
Cholelithiasis, Hemolytic anemia, Target cells, Priapism, Splenic infarction, Increased red cell ... |
OMIM:603903 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
OMIM:619051 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
| Propionic Acidemia |
|
Anemia, Hyperglycinemia, Pancytopenia, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropeni... |
OMIM:606054 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia, Thrombocyto... |
ORPHA:96181 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
| Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocy... |
ORPHA:824 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Diabetes mellitus... |
OMIM:613845 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Gia... |
OMIM:169400 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... |
OMIM:601399 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia, Impotence |
OMIM:615750 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... |
ORPHA:324410 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Menorrhagia |
OMIM:601709 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Leukopenia, Ventricular septal defect, Elevated circulating creati... |
OMIM:301056 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Hepatomegaly |
ORPHA:158029 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Adrenal insufficiency, Hypersplenism, Hepatosplenomegaly, Adrenal calcificati... |
OMIM:278000 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Mogs-Cdg |
|
Hypothyroidism, External genital hypoplasia, Left ventricular hypertrophy, Hydrocele testis, Atri... |
ORPHA:79330 |
| Myh9-Related Disease |
|
Menorrhagia, Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased... |
ORPHA:182050 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomegaly |
OMIM:150550 |
| Overlap Myositis |
|
Leukopenia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase concen... |
ORPHA:206572 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce... |
OMIM:619644 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Anemia, Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Atri... |
OMIM:277380 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating A-type atrial natriuretic peptide concentration, Left ventricular hypertroph... |
ORPHA:57777 |
| Neuraminidase Deficiency |
|
Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiom... |
OMIM:256550 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Hemophagocytosis, Hepat... |
OMIM:301078 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... |
ORPHA:91547 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased plasma carnitine, Elevated circulating creatine kinase concentration, Hypertrophic card... |
OMIM:201475 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Dilated cardiomyopa... |
ORPHA:99901 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatomegaly, Cardiomegaly, D... |
ORPHA:42 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Atrial septal defect, Elevated circulating creatine kinase concentrati... |
OMIM:614576 |
| Intermediate Osteopetrosis |
|
Hypocalcemia, Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Hypogonadism, Thrombocytopenia, Hypergonadotropic hypogonadism, Aplast... |
OMIM:300514 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:618116 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytop... |
OMIM:613839 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Thrombocytopenia,... |
ORPHA:100026 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Nephrogenic diabetes insipidus, Atrial septal de... |
OMIM:208085 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612924 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Urethral stricture, Dilated cardiomyopathy, Pancytopenia, Thrombocytopenia, Aplastic ... |
OMIM:613989 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Pulmonic stenosis, Secundum atrial septal defect, C... |
OMIM:612541 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Elevated circulating C-reactive protein concentration... |
OMIM:618048 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Hepatomegaly, Myeloproliferative disorder, Leukocytosis, Thrombocytope... |
ORPHA:3226 |
| Methylmalonic Aciduria, Cblb Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Hepatomegaly, Thro... |
OMIM:251110 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612926 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Pericardial effusion, Hypersplenism, Pancytopenia, Delayed puberty, Hepatomeg... |
ORPHA:77259 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Cryptorchidism, Thr... |
OMIM:610733 |
| Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
| Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Neutropenia, Pan... |
ORPHA:158048 |
| Fetal Gaucher Disease |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
| Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... |
OMIM:230800 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Abnormality of neutrophils, Hepatomegaly, T... |
ORPHA:381 |
| Isolated Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils |
ORPHA:229717 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia, Hepatomegaly |
ORPHA:99828 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Hepatomegaly, Thro... |
OMIM:251100 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612925 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... |
OMIM:187900 |
| Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Urethral stricture, Pancytopenia, Urethral stenosis, Cryptorchidism, Thrombocytopenia... |
OMIM:613990 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD25+ mast cells... |
ORPHA:98850 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Leukocytosis, Hyponatremia, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Ventricular septal defect, Reticulocytopenia, Pancytopenia, Hypergonadotropic hypogonadis... |
OMIM:227645 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Hepatomegaly, Thrombocyto... |
ORPHA:811 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Thrombocytopenia, Ventricular septal defect |
OMIM:619980 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Anemia, Coombs-positive hemolytic anemia, Type I diabetes mellitus, Autoimmune th... |
OMIM:304790 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatomegaly... |
ORPHA:540 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia |
ORPHA:263501 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:619463 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
| Necrotizing Enterocolitis |
|
Abnormal heart morphology, Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Metrorrhagia, Menorrha... |
OMIM:614074 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Anemia, Decreased response to growth hormone stimulation test, Microphallus, Atrial s... |
OMIM:603467 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thromb... |
OMIM:185070 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Cryptorchidism |
OMIM:616638 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:266500 |
| Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
| Felty Syndrome |
|
Anemia, Pericarditis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lymphoc... |
ORPHA:47612 |
| Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating T4 concentration, Thy... |
ORPHA:525731 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Refractory anemia |
OMIM:231095 |
| Mevalonic Aciduria |
|
Anemia, Hepatosplenomegaly, Elevated circulating creatine kinase concentration, Normocytic hypopl... |
OMIM:610377 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Enlarged kidney, Atrial septal defect, Hypertrophic cardiomyopathy, Hepatomeg... |
OMIM:617303 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Splenomegaly, Anemia, Pericardial effusion, Pancytopenia, Delayed pub... |
ORPHA:77261 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Decreased proportion of CD3-positive T cells, Abnormal B cell... |
ORPHA:331206 |
| Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypospadias, Cardiomegaly, Micropenis |
OMIM:616897 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation |
OMIM:277480 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Thrombocytopenia, Dilated cardiomyopathy |
OMIM:611126 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Hypocalcemia, Splenomegaly |
OMIM:259700 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Giant platelets, Left ventricular hypertrophy, Hypospadias, Cryptorchidism, Thrombocytopenia |
OMIM:611209 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:259710 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy, Cryptorchidism, Increased mean corpuscular vol... |
ORPHA:261250 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Abnormal circulating lipid concentration, Hyperinsulinemia, Increased serum testoster... |
ORPHA:2298 |
| Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Elevated circulating creatine kinase concentration, ... |
OMIM:300257 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Retic... |
OMIM:618278 |
| Wilson Disease |
|
Anemia, Abnormality of the menstrual cycle, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:905 |
| Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Impotence, Cardiomyopathy |
OMIM:105210 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Annular pancreas, Pancytopenia, Abnormal heart morphology, Hypergonado... |
OMIM:227646 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Ventricular septal ... |
OMIM:602782 |
| Snakebite Envenomation |
|
Thrombocytopenia, Hypopituitarism, Hyponatremia |
ORPHA:449285 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Schimke Immunoosseous Dysplasia |
|
Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:242900 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Hypothyroidism, B lymphocytopenia, Thyroiditis, Type I diabetes mellitus, Pa... |
OMIM:614700 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:274150 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly |
OMIM:246400 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia, Cardiomyopathy |
OMIM:617710 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Avian Influenza |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:454836 |
| Tangier Disease |
|
Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Hypocholester... |
ORPHA:31150 |
| Takenouchi-Kosaki Syndrome |
|
Abnormal cardiac septum morphology, Pulmonic stenosis, Hypospadias, Cryptorchidism, Thrombocytope... |
OMIM:616737 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Alg12-Cdg |
|
Patent foramen ovale, B lymphocytopenia, Biventricular hypertrophy, Muscular ventricular septal d... |
ORPHA:79324 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Ventricular septal defect, Reticulocytopenia, Pure red cell a... |
ORPHA:124 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Anemia, Ventricular septal defect, Hyperbilirubinemia, Atrial septal defect, ... |
ORPHA:163979 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac septum morphology |
ORPHA:3320 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement |
OMIM:614473 |
| Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Hyperammonemia |
ORPHA:391428 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
| Glycogen Storage Disease Ii |
|
Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase concentration... |
OMIM:232300 |
| Tularemia |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:3392 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Cardiomegaly, Decreased plasma free carnitine, Enlarged kidney, Elevat... |
OMIM:608836 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:47 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine... |
ORPHA:228308 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Right atrial ... |
OMIM:306955 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... |
OMIM:557000 |
| Chédiak-Higashi Syndrome |
|
Anemia, Neutropenia, Pericardial effusion, Abnormal platelet function, Pancytopenia, Hepatospleno... |
ORPHA:167 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... |
ORPHA:79124 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Hepa... |
ORPHA:464329 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Pancytopenia, Metrorrhagia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:520 |
| Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:255249 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Hepatomegaly, Impaired neutrophi... |
OMIM:214500 |
| Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... |
OMIM:305400 |
| Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Thrombocytopenia, Increased serum zinc, I... |
ORPHA:470 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Lymphopenia, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Splenomegaly |
OMIM:617591 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Thrombocy... |
OMIM:251880 |
| Aicardi-Goutieres Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Hepatomegaly, Thrombocytopenia, Splenomegaly, Cardiomyopathy |
OMIM:225750 |
| Pseudo-Torch Syndrome 1 |
|
Patent foramen ovale, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:251290 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
ORPHA:79242 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:90060 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia |
OMIM:605432 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Myocarditi... |
ORPHA:464343 |
| Prolidase Deficiency |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:170100 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Anemia, Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase c... |
OMIM:619743 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Thrombocytopenia, Hepatomegaly |
OMIM:617397 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Increased circulating ferritin concentration |
ORPHA:3240 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Imp... |
OMIM:608233 |
| Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Hypoparathyroidism, Hepatomegaly, Thrombo... |
ORPHA:699 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Myocardial necrosis, H... |
OMIM:260400 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Lymphopen... |
ORPHA:508542 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Abnormal circulating lipid concentration, Hypersplenism, Acute promyelocytic leuk... |
ORPHA:77293 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly |
OMIM:608013 |
| Vexas Syndrome |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia |
OMIM:301054 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hypoc... |
OMIM:259720 |
| Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Elevated circulating creatine kinase concentra... |
OMIM:614921 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Elevated circulating creatine kinase concentration, In... |
ORPHA:36234 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
ORPHA:169090 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Urethritis, Leukocytosis, Hy... |
ORPHA:810 |
| Abetalipoproteinemia |
|
Hypothyroidism, Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal cir... |
ORPHA:14 |
| Immunodeficiency 22 |
|
Pericarditis, Thrombocytopenia, Anemia, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
| Schimke Immuno-Osseous Dysplasia |
|
Anemia, Abnormality of thyroid physiology, Lymphopenia, Hyperlipidemia, Decreased proportion of n... |
ORPHA:1830 |
| Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Decreased mean corpuscular volume, Elevated circulating C-rea... |
ORPHA:160 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Labial hypoplasia, Atrial septal defect, Clitoral hypoplasia, Hypospad... |
OMIM:147791 |
| Alg8-Cdg |
|
Thrombocytopenia, Anemia, Hyponatremia |
ORPHA:79325 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypertrophic ca... |
ORPHA:308552 |
| Brucellosis |
|
Endocarditis, Leukopenia, Anemia, Orchitis, Hypersplenism, Abnormal aortic valve morphology, Epid... |
ORPHA:1304 |
| Fanconi Anemia |
|
Leukopenia, Anemia, Abnormal cardiac septum morphology, Abnormal testis morphology, Pyridoxine-re... |
ORPHA:84 |
| Q Fever |
|
Endocarditis, Anemia, Pericardial effusion, Abnormal heart valve morphology, Hepatosplenomegaly, ... |
ORPHA:781 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrioventricular canal defect, Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Dilated ca... |
OMIM:619573 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent foramen ovale, Leukopenia, Anemia, Enlarged kidney, Atrial septal defect, Hepatosplenomega... |
ORPHA:505248 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Labi... |
ORPHA:96191 |
| Adams-Oliver Syndrome |
|
Leukopenia, Thrombocytopenia, Abnormal pulmonary valve morphology, Tetralogy of Fallot |
ORPHA:974 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... |
ORPHA:363705 |
| Sepsis In Premature Infants |
|
Anemia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Leukocytosis, Thromb... |
ORPHA:90051 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Pericardial effusion, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Patent foramen ovale, T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr... |
ORPHA:391487 |
| Immunodeficiency 40 |
|
Thrombocytopenia, T lymphocytopenia, Hepatomegaly |
OMIM:616433 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration |
ORPHA:268 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Hyperinsulinemic hypoglycemia, Elevated circulating alpha-fetoprotei... |
OMIM:619991 |
| Hereditary Folate Malabsorption |
|
Thrombocytopenia, Megaloblastic anemia, Pancytopenia, Eosinophilia |
ORPHA:90045 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
| Sandhoff Disease |
|
Cardiomegaly, Impotence, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Stevens-Johnson Syndrome |
|
Anemia, Abnormality of neutrophils, Dyspareunia, Thrombocytopenia, Abnormality of the urethra, Ab... |
ORPHA:36426 |
| Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Neutropenia, Abnormality of the urethra, Abnormal myocardium morphology... |
ORPHA:537 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Thrombocytopenia, Neutropenia |
OMIM:617941 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect |
OMIM:617022 |
| Beckwith-Wiedemann Syndrome |
|
Gonadoblastoma, Pancreatic hyperplasia, Adrenocortical carcinoma, Enlarged kidney, Hepatomegaly, ... |
OMIM:130650 |
| Ivic Syndrome |
|
Rectovaginal fistula, Thrombocytopenia, Tetralogy of Fallot, Leukocytosis |
OMIM:147750 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia, Increased circulatin... |
OMIM:222700 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
| Hepatocellular Carcinoma |
|
Anemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypercalcemia, ... |
ORPHA:88673 |
| Dyskeratosis Congenita |
|
Anemia, Abnormal testis morphology, Displacement of the urethral meatus, Neoplasm of the pancreas... |
ORPHA:1775 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Thrombocytopenia, Micropenis |
OMIM:619005 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Fucosidosis |
|
Cardiomegaly, Hypothyroidism, Hepatomegaly |
ORPHA:349 |
| Good Syndrome |
|
Thymoma, Anemia, Aplasia/Hypoplasia of the thymus, Diabetes mellitus, Thrombocytopenia, Abnormal ... |
ORPHA:169105 |
| Wilson Disease |
|
Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin... |
OMIM:277900 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper, Atrial septal defect |
ORPHA:457351 |
| Lathosterolosis |
|
Anisopoikilocytosis, Hypoplasia of penis, Abnormal platelet morphology, Hepatomegaly, Thrombocyto... |
ORPHA:46059 |
| Cyclic Neutropenia |
|
Thrombocytopenia, Decreased eosinophil count, Cyclic neutropenia, Lymphopenia |
ORPHA:2686 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Patent foramen ovale, Anemia, Hypothyroidism, Atrial septal defect, Lymphopenia, Severe B lymphoc... |
OMIM:620005 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Elevated circulating palmitole... |
ORPHA:79282 |
| Ivic Syndrome |
|
Thrombocytopenia, Rectovaginal fistula, Leukocytosis |
ORPHA:2307 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopathic hemolytic anemia, Reticulocytosis,... |
ORPHA:90038 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:308230 |
| Marburg Hemorrhagic Fever |
|
Leukopenia, Hypokalemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Per... |
ORPHA:99826 |
| Diamond-Blackfan Anemia 21 |
|
Anemia, Secundum atrial septal defect, Thrombocytopenia, Erythroid hypoplasia |
OMIM:620072 |
| Lujo Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thr... |
ORPHA:319213 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Anemia, Thrombocytopenia, Hypoplastic nipples, Atrial septal defect |
ORPHA:261323 |
| Ogden Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Decrea... |
OMIM:300855 |
| Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Anemia, Hemolytic anemia, Pericardial effusion, Pancytopenia, Hypertrophic cardio... |
OMIM:615846 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly, Cryptorchidism |
OMIM:618143 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Impotence, Unconjugated hyperbil... |
ORPHA:447 |
| Gaucher Disease |
|
Abnormal pericardium morphology, Mitral valve calcification, Anemia, Abnormal heart valve morphol... |
ORPHA:355 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Hypophosphatemic rickets, Dilated cardiomyopathy |
OMIM:208000 |
| Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Hyperammonemia |
OMIM:253270 |
| Immunodeficiency 47 |
|
Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Hepa... |
OMIM:300972 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Cystathioninemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni... |
OMIM:277400 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Reticulocytopenia, Atrial septal defect, Thrombocytosis, Tricuspid ste... |
OMIM:105650 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... |
OMIM:157640 |
| Hoyeraal-Hreidarsson Syndrome |
|
Thrombocytopenia, Abnormal leukocyte morphology, Anemia |
ORPHA:3322 |
| Deeah Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased c... |
OMIM:619004 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hypertrophic cardiomyopathy, Hyperbilirubinemia, Thrombocytopenia, Abnormal heart morphology |
ORPHA:464321 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Abnormal circulating porphyrin concentration, Leukopenia, Hemolytic an... |
ORPHA:79277 |
| Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
| Caroli Syndrome |
|
Leukopenia, Hypersplenism, Hyperbilirubinemia, Hepatomegaly, Leukocytosis, Abnormality of the duc... |
ORPHA:480520 |
| Fucosidosis |
|
Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly |
OMIM:230000 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
| 22Q11.2 Deletion Syndrome |
|
Abnormality of thrombocytes, Cholelithiasis, Hypothyroidism, Hypoplasia of the thymus, Ventricula... |
ORPHA:567 |
| Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Hypoplastic labia majora, Hypospadias, Hypoplastic male external genit... |
OMIM:122470 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Elliptocytosis, Pancytopenia, Elevated circulating creatine kinase concentrat... |
ORPHA:2785 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Epididymi... |
OMIM:256040 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia, Hypoalbuminemia |
OMIM:254900 |
| Dubowitz Syndrome |
|
Anemia, Abnormality of female external genitalia, Acute lymphoblastic leukemia, Abnormality of ne... |
ORPHA:235 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia, Cardiomyopathy |
ORPHA:572798 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Anemia, Enlargement of parotid gland, Neutropenia, Lymphocytosis, Elevated circulatin... |
ORPHA:50918 |
| Tick-Borne Encephalitis |
|
Leukopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia... |
ORPHA:297 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Pineal cyst, Atrial septal defect, Left ventricu... |
OMIM:300967 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Thrombocytopenia, Aplastic anemia, Pancytopenia |
OMIM:224230 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Orchitis, Pericardial effusion, Adrenal insufficiency, Neutrophilia, Pancytopenia, El... |
ORPHA:99827 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:230900 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Leukopenia, Anemia, Decreased testicular size, Phimosis, Pancytopenia, Hy... |
OMIM:305000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Atrioventricular canal defect, Anemia, Ventricular septal defect, Atrial septal... |
OMIM:274000 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Dilated cardiomyopathy, Hepatosplenomegaly, Myocardial eosinophilic infiltr... |
ORPHA:3260 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Abnormal heart morphology, Total anomalous pulmonary venous return, Thrombocytopenia... |
ORPHA:487796 |
| Beckwith-Wiedemann Syndrome |
|
Hypothyroidism, Gonadoblastoma, Adrenocortical carcinoma, Enlarged kidney, Polycythemia, Elevated... |
ORPHA:116 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Elevated circulating C-reactive ... |
OMIM:617718 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Bacterial endocarditis, Anemia, Azoospermia, Pancytopenia, Hepatosplenomegaly, Abno... |
ORPHA:2072 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Annular pancreas, Hypoplastic left heart, Cryptorchidism, Aortic valve... |
ORPHA:2308 |
| Farber Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:333 |
| Fibular Hemimelia |
|
Thrombocytopenia, Abnormal heart morphology |
ORPHA:93323 |
| Hardikar Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Hypersplenism, Hyperbilirubinemia, Atrial septal... |
OMIM:301068 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
| Aicardi-Goutières Syndrome |
|
Hypothyroidism, Chronic lymphatic leukemia, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Neon... |
ORPHA:51 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Digeorge Syndrome |
|
Hypothyroidism, Anemia, Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, ... |
OMIM:188400 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Hypocalcemia, Hyperkalemia, Diabetes mellitus, Leukocytosis, Hyponatremia, Thro... |
ORPHA:544482 |
| Alport Syndrome 1, X-Linked |
|
Thrombocytopenia, Hypoparathyroidism |
OMIM:301050 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormality of the thymus, Cardiomegaly |
ORPHA:2463 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, ... |
OMIM:252500 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
| Noonan Syndrome 1 |
|
Ventricular septal defect, Hypogonadism, Amegakaryocytic thrombocytopenia, Atrial septal defect, ... |
OMIM:163950 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Diabetes insipidus, Anemia, Hyperaldosteronism, Hyponatremia, Abnormal calcium-phosphate regulati... |
ORPHA:534 |
| Hellp Syndrome |
|
Thrombocytopenia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... |
ORPHA:581 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Polycystic ovaries, Ventricular septal defect, Hepatomegaly |
ORPHA:137675 |
| Steinert Myotonic Dystrophy |
|
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... |
ORPHA:273 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Anemia, Ventricular septal defect, Type I diabetes mellitus, Bile duct proliferation, Hepatomegal... |
OMIM:619525 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Yellow Fever |
|
Pancreatic hyperplasia, Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase co... |
ORPHA:99829 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypertrophic ca... |
ORPHA:365 |
| Roberts Syndrome |
|
Clitoral hypertrophy, Thrombocytopenia, Long penis, Cryptorchidism |
ORPHA:3103 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
| Nijmegen Breakage Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Premature ovarian insufficiency, Autoimmune hemolytic anemi... |
OMIM:251260 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Biliary hyperplasia, Enlarged kidney, Hypersplenism, Hepatosplenomegaly, Increa... |
ORPHA:731 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:301072 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism |
ORPHA:3063 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas |
ORPHA:97297 |
| Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
| Williams Syndrome |
|
Hypothyroidism, Abnormal circulating lipid concentration, Precocious puberty, Functional abnormal... |
ORPHA:904 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Anemia |
OMIM:612199 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypoplastic labia majora, Atrial septal defect, Hypospadias, Cryptorch... |
ORPHA:3472 |
| Sarcoidosis |
|
Leukopenia, Anemia, Hypothyroidism, Diabetes insipidus, Hemolytic anemia, Hyperthyroidism, Enlarg... |
ORPHA:797 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Anemia, Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentrat... |
ORPHA:340 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
| Primary Sjögren Syndrome |
|
Leukopenia, Normocytic anemia, Vaginal dryness, Thyroiditis, Lymphopenia, Parotitis, Decreased pr... |
ORPHA:289390 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Nodular goiter, Thyroiditis, Abnormality of the submandibular glands, Abnormal salivary gland mor... |
ORPHA:79078 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia, Hemolytic anemia |
ORPHA:647 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Leptospirosis |
|
Pericarditis, Hyperproteinemia, Thrombocytopenia, Hepatomegaly |
ORPHA:509 |
| Osteogenesis Imperfecta |
|
Thrombocytopenia, Mitral valve prolapse, Abnormal endocardium morphology |
ORPHA:666 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
| Acute Liver Failure |
|
Adrenal insufficiency, Thrombocytopenia, Hyperammonemia |
ORPHA:90062 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pancreatic calcification, Pericardial effusion, Myocardial calcification... |
ORPHA:51608 |
| Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... |
OMIM:182250 |
