Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... |
ORPHA:293964 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Increased bone mineral density |
OMIM:618406 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Estrogen Resistance |
|
Glucose intolerance, Osteopenia, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Ket... |
ORPHA:324575 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276580 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276575 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Osteoporosis, Delayed puberty, Delayed thelarche, Diabetes mellitus |
OMIM:616033 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density |
OMIM:619489 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia |
ORPHA:329249 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... |
ORPHA:71526 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia |
OMIM:617441 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Osteoporosis |
OMIM:613606 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone concentration, Hyper... |
ORPHA:280356 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Refrac... |
OMIM:231095 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
OMIM:173590 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Delayed epiphyseal ossification, Hyperinsulinemia, Absence of pubertal devel... |
ORPHA:785 |
Transient Neonatal Diabetes Mellitus |
|
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... |
ORPHA:99886 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia, Diabetes mellitus, Dia... |
OMIM:598500 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi... |
ORPHA:552 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Maternal diabetes, Insulin-resistant diabetes mellit... |
OMIM:604367 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... |
ORPHA:2298 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Thrombocytopenia |
ORPHA:67048 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycem... |
ORPHA:263455 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Hypogonadotropic hypogonadism, M... |
ORPHA:848 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia |
OMIM:607616 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Type I diabet... |
OMIM:301078 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplas... |
OMIM:246200 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus |
ORPHA:49827 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Osteopetrosis, Anemia, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Euthyroid goiter |
ORPHA:3327 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
OMIM:603552 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Progressive cla... |
OMIM:608612 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Osteoporosis, Macronodular adrenal hyperplasia, Increased u... |
OMIM:615954 |
Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Hepatosplenomegaly, Hyperinsulinemia, Hypoglycemia |
ORPHA:79237 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Bone cyst, Diabetes mellitus, Insulin resistance |
ORPHA:528 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Osteoporosis |
OMIM:614727 |
Thrombocytopenia 6 |
|
Thrombocytopenia, Osteoporosis, Myelofibrosis |
OMIM:616937 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
+173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... |
OMIM:173470 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a... |
OMIM:139090 |
Osteopetrosis, Autosomal Recessive 2 |
|
Diaphyseal sclerosis, Osteopetrosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopen... |
OMIM:259710 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Preeclampsia |
|
Thrombocytopenia, Type I diabetes mellitus |
ORPHA:275555 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Osteolytic defe... |
ORPHA:2457 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Diabetes mellitus |
OMIM:249270 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Thyrocerebroretinal Syndrome |
|
Goiter, Thrombocytopenia |
OMIM:274240 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... |
OMIM:601399 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Thrombocytopenia |
OMIM:617021 |
Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:613101 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hypothyroidism, Type... |
OMIM:304790 |
Specific Granule Deficiency 2 |
|
Osteopenia, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules |
OMIM:617475 |
Amed Syndrome, Digenic |
|
Leukopenia, Adrenal hypoplasia, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Throm... |
ORPHA:98850 |
Propionic Acidemia |
|
Osteoporosis, Hypoglycemia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:606054 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
Congenital Rubella Syndrome |
|
Anemia, Thrombocytopenia, Type I diabetes mellitus, Splenomegaly |
ORPHA:290 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test |
OMIM:618624 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:610333 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Osteolysis, Autoimmune... |
ORPHA:100026 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:54057 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Osteopenia, Acroosteolysis of distal phalanges (feet), Impaired glucose toleran... |
OMIM:248370 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Hypothyroidism, Diabetes mellitus, Si... |
OMIM:222300 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Bone Marrow Failure Syndrome 4 |
|
Anemia, Thrombocytopenia, Leukopenia |
OMIM:618116 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Unicameral bone cyst |
ORPHA:79086 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia |
OMIM:254900 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Babesiosis |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly |
ORPHA:108 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Anemia, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, ... |
ORPHA:158057 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Splenomegaly, Osteopenia, Osteoporosis, Insulin resistance |
OMIM:613327 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... |
OMIM:613011 |
Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:617443 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Transaldolase Deficiency |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:507 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... |
OMIM:308240 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... |
ORPHA:769 |
Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia |
ORPHA:858 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsulinemia, Hypoglycemic s... |
ORPHA:71212 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Goiter, Thrombocytopenia |
ORPHA:83601 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia |
ORPHA:2123 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Craniosynostosis, Osteopetrosis, Splenomegaly, Pancytopenia, Calv... |
OMIM:259700 |
Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Anemia, Thrombocytopenia, Abnormal lymphocyte morphology |
ORPHA:229717 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Anemia, Thrombocytopenia, Leukopenia, Diabetes mellitus |
OMIM:613845 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count |
OMIM:616050 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Anemia, Thrombocytopenia |
OMIM:611209 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:251000 |
Necrotizing Enterocolitis |
|
Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Thrombocytopenia, Hyperglycemia |
ORPHA:391673 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:603909 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Anemia, Thrombocytopenia, Leukopenia, Macrocytic anemia |
ORPHA:27 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteolysis, Delayed puberty... |
ORPHA:77259 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 ratio |
OMIM:150550 |
Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
Lig4 Syndrome |
|
Hypothyroidism, Thrombocytopenia, Pancytopenia |
OMIM:606593 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia |
OMIM:618857 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Anemia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia |
OMIM:152700 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Pediatric-Onset Graves Disease |
|
Graves disease, Neutropenia in presence of anti-neutropil antibodies, Craniosynostosis, Splenomeg... |
ORPHA:525731 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Anemia, Diabetes mellitus, Aplasia/Hypoplasia of the thym... |
ORPHA:169105 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Mirage Syndrome |
|
Adrenal insufficiency, Lymphopenia, Hypergonadotropic hypogonadism, Radial club hand, Leukopenia,... |
OMIM:617053 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Thrombocytopenia |
OMIM:611126 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Hypothyroidism, Decreased proportio... |
OMIM:614700 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Precocious puberty, Type II diabetes mellitus, Hyperinsulinemia, Decreased... |
OMIM:176270 |
Smith-Kingsmore Syndrome |
|
Hypoglycemia, Thrombocytopenia |
OMIM:616638 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... |
ORPHA:3226 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Rhabdoid Tumor |
|
Anemia, Thrombocytopenia |
ORPHA:69077 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Thrombocytopenia, Pancytopenia |
OMIM:613987 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:398124 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Thrombocytopenia |
OMIM:617710 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytopenia, Decreased proportion of memory B cells |
OMIM:618048 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Lipodystrophy, Familial Partial, Type 2 |
|
Type II diabetes mellitus, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:151660 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Thrombocytopenia, Congenital adrenal hyperplasia |
ORPHA:96181 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Increased bone mineral density, Reduced bone mineral... |
ORPHA:79474 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Felty Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Osteolysis, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:47612 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Cystic angiomatosis of bone, Elevated ... |
OMIM:269700 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Splenomegaly, Cystic angiomatosis of bone, Decreased serum leptin, Insulin-resi... |
OMIM:608594 |
Fetal Gaucher Disease |
|
Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Pancytopenia |
ORPHA:85212 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia |
OMIM:619644 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Thrombocytopenia, Splenomegaly |
OMIM:251880 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Schimke Immunoosseous Dysplasia |
|
Neutropenia, Lymphopenia, Osteopenia, Thrombocytopenia, Elevated circulating thyroid-stimulating ... |
OMIM:242900 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Decreased response to growth hormone stimulation ... |
ORPHA:811 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Tularemia |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:3392 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Decreased osteoclast count, Splenomegaly, Osteopetrosis, Extramed... |
OMIM:259720 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho... |
ORPHA:391487 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Thrombocytopenia |
OMIM:613990 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Anemia, Thrombocytopenia |
OMIM:608104 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal B cell count, Abno... |
ORPHA:331206 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Splenomegaly, Adrenal calcification, Hepatosplenomegaly, Leukopenia, Throm... |
OMIM:278000 |
Stormorken Syndrome |
|
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Thrombocytopenia, Normochromic anemia, Neutropenia |
OMIM:614857 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... |
ORPHA:86839 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Leukopenia, Anemia, Thrombocytopenia |
ORPHA:91547 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia |
OMIM:246400 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Leukopenia, Thrombocytopenia, Splenomegaly |
ORPHA:381 |
Leprechaunism |
|
Postprandial hyperglycemia, Hyperinsulinemia, Insulin resistance, Increased circulating renin lev... |
ORPHA:508 |
Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia |
ORPHA:2126 |
Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocytopenia |
OMIM:614074 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612922 |
Congenital Enterovirus Infection |
|
Leukocytosis, Leukopenia, Abnormal macrophage morphology, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:292 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... |
ORPHA:158061 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Lymphopenia, Aplastic anemia, Osteoporosis, Anemia, Thrombocytopenia |
OMIM:127550 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Inappropriate antidiuretic hormone secretion, Hepatosplenomegaly, T lymphocytopenia, Pancytopenia... |
ORPHA:79124 |
Transaldolase Deficiency |
|
Splenomegaly, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:606003 |
Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia |
ORPHA:263501 |
3-Methylglutaconic Aciduria, Type Viib |
|
Neonatal hypoglycemia, Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
X-Linked Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:47 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Persistence of hemoglobin F, Pancytopenia, Anemia, Thrombocytopenia, Acute myeloid l... |
OMIM:260400 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
Overlap Myositis |
|
Leukopenia, Thrombocytopenia, Diabetes mellitus |
ORPHA:206572 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Thrombocytopenia |
ORPHA:99901 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... |
OMIM:214500 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:520 |
Gaucher Disease, Type I |
|
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:230800 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Re... |
OMIM:600901 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Thrombocytopenia |
ORPHA:231111 |
Snakebite Envenomation |
|
Hypopituitarism, Thrombocytopenia |
ORPHA:449285 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612925 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Refractory sideroblastic anemia, Type I di... |
OMIM:557000 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:614576 |
Hepatoportal Sclerosis |
|
Splenomegaly, Leukopenia, Anemia, Thrombocytopenia, Hypersplenism |
ORPHA:64743 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia |
OMIM:251110 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Abnormal proportion of naive CD4 T cells, Thrombocytopenia, Decreased proportion of ... |
ORPHA:1830 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Re... |
OMIM:227650 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Impaired AD... |
OMIM:608233 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Thrombocytopenia, Leukocytosis |
ORPHA:90060 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:99828 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Thrombocytopenia, Aplastic anemia, Osteoporosis |
OMIM:224230 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Pancytopenia |
OMIM:277380 |
Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Thrombocytopenia, Lymphopenia, Decreased eosinophil count |
ORPHA:2686 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Anemia, Neutropenia, Pancytopenia |
OMIM:251100 |
Thrombocytopenia 1 |
|
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Tenorio Syndrome |
|
Hypoglycemia, Osteopenia, Hypoinsulinemia |
OMIM:616260 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Thrombocytopenia, Craniosynostosis |
OMIM:301056 |
Wilson Disease |
|
Anemia, Thrombocytopenia, Splenomegaly |
ORPHA:905 |
Prolidase Deficiency |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:170100 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis |
OMIM:274150 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Splenomegaly, Osteolysis, Delayed puberty, Pancytopenia, Anemia, ... |
ORPHA:77261 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
ORPHA:79242 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:540 |
Alg8-Cdg |
|
Anemia, Thrombocytopenia |
ORPHA:79325 |
Acquired Purpura Fulminans |
|
Thrombocytopenia |
ORPHA:49566 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Thrombocytopenia, Aplastic anemia, Hypogonadism |
OMIM:300514 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
Pseudo-Torch Syndrome 3 |
|
Anemia, Congenital thrombocytopenia, Leukocytosis |
OMIM:618886 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:508542 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal plat... |
ORPHA:906 |
Mucopolysaccharidosis-Plus Syndrome |
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Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:617303 |
Aicardi-Goutieres Syndrome 1 |
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Hypothyroidism, Thrombocytopenia, Splenomegaly, Diabetes insipidus |
OMIM:225750 |
Alg12-Cdg |
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Abnormal bone ossification, B lymphocytopenia, Recurrent hypoglycemia, Thrombocytopenia, Decrease... |
ORPHA:79324 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... |
OMIM:612541 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Neonatal hypoglycemia, Thrombocytopenia |
ORPHA:572798 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis |
OMIM:235400 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Nephrogenic diabetes insipidus, Thrombocytopenia |
OMIM:208085 |
Fanconi Anemia, Complementation Group C |
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Neutropenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Re... |
OMIM:227645 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... |
OMIM:603553 |
Pediatric Systemic Lupus Erythematosus |
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Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:93552 |
Steinert Myotonic Dystrophy |
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Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... |
ORPHA:273 |
Blue Rubber Bleb Nevus |
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Thrombocytopenia, Iron deficiency anemia |
OMIM:112200 |
Mevalonic Aciduria |
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Leukocytosis, Fluctuating splenomegaly, Normocytic hypoplastic anemia, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
Kaposiform Lymphangiomatosis |
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Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Osteolysis, Anemia, Thrombocytopenia |
ORPHA:464329 |
Hemophagocytic Syndrome Associated With An Infection |
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Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Pancytopenia, A... |
ORPHA:158048 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hemophagocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia |
OMIM:267700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Reduced bone mineral density, O... |
ORPHA:99413 |
Turner Syndrome |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Reduced bone mineral density, O... |
ORPHA:881 |
Mosaic Monosomy X |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Reduced bone mineral density, O... |
ORPHA:99228 |
Monosomy X |
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Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Reduced bone mineral density, O... |
ORPHA:99226 |
Hoyeraal-Hreidarsson Syndrome |
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Abnormal leukocyte morphology, Anemia, Thrombocytopenia |
ORPHA:3322 |
Porphyria, Congenital Erythropoietic |
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Splenomegaly, Osteopenia, Hemolytic anemia, Osteolysis, Thrombocytopenia |
OMIM:263700 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Osteopenia, Anemia, Thrombocytopenia, Osteoporosis |
OMIM:612199 |
Avian Influenza |
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Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:454836 |
Shigellosis |
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Splenic abscess, Leukocytosis, Hypoglycemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:810 |
Pseudo-Torch Syndrome 1 |
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Thrombocytopenia, Splenomegaly |
OMIM:251290 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Anemia, Hypophosphatemic rickets, Thrombocytopenia |
OMIM:619743 |
Vexas Syndrome |
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Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
Farber Disease |
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Anemia, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly |
ORPHA:333 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
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Osteopenia, Thrombocytopenia |
OMIM:612394 |
Ebola Hemorrhagic Fever |
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Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... |
ORPHA:167 |
Blackfan-Diamond Anemia |
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Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Anemia, Thrombocytopenia, Lymphopenia, Splenomegaly |
OMIM:617591 |
Dyskeratosis Congenita |
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Splenomegaly, Anemia, Osteoporosis, Abnormality of neutrophils, Diabetes mellitus, Coarse metaphy... |
ORPHA:1775 |
Wilson Disease |
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Hypoparathyroidism, Splenomegaly, Glycosuria, Osteoporosis, Osteomalacia, Hemolytic anemia, Anemi... |
OMIM:277900 |
Noonan Syndrome 4 |
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Thrombocytopenia |
OMIM:610733 |
Pseudo-Torch Syndrome 2 |
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Thrombocytopenia |
OMIM:617397 |
Adams-Oliver Syndrome |
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Leukopenia, Thrombocytopenia |
ORPHA:974 |
Castleman Disease |
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Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Myelofibrosis |
ORPHA:160 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
Fanconi Anemia, Complementation Group F |
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Anemia, Thrombocytopenia, Decreased response to growth hormone stimulation test, Leukopenia |
OMIM:603467 |
Congenital Erythropoietic Porphyria |
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Splenomegaly, Osteopenia, Anisocytosis, Leukopenia, Osteoporosis, Hemolytic anemia, Poikilocytosi... |
ORPHA:79277 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:308230 |
Catastrophic Antiphospholipid Syndrome |
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Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia |
ORPHA:464343 |
Leukocyte Adhesion Deficiency |
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Hyperinsulinemic hypoglycemia, Leukocytosis, Coronal craniosynostosis, Polycythemia, Impaired neu... |
ORPHA:2968 |
Pearson Syndrome |
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Hypoparathyroidism, Adrenal insufficiency, Neutropenia, Decreased response to growth hormone stim... |
ORPHA:699 |
Holocarboxylase Synthetase Deficiency |
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Thrombocytopenia |
OMIM:253270 |
Gaucher Disease, Perinatal Lethal |
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Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:608013 |
Sepsis In Premature Infants |
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Leukocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:90051 |
Hepatocellular Carcinoma |
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Type II diabetes mellitus, Polycythemia, Hypoglycemia, Thrombocytosis, Anemia, Thrombocytopenia |
ORPHA:88673 |
Deeah Syndrome |
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Decreased response to growth hormone stimulation test, Decreased hemoglobin concentration, Decrea... |
OMIM:619004 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Kasabach-Merritt Syndrome |
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Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... |
ORPHA:2330 |
Takenouchi-Kosaki Syndrome |
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Increased mean platelet volume, Thrombocytopenia |
OMIM:616737 |
Fibular Hemimelia |
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Thrombocytopenia, Abnormal bone ossification, Craniosynostosis |
ORPHA:93323 |
Fanconi Anemia, Complementation Group D2 |
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Neutropenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Re... |
OMIM:227646 |
Lysinuric Protein Intolerance |
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Hemophagocytosis, Splenomegaly, Leukopenia, Osteoporosis, Anemia, Thrombocytopenia |
OMIM:222700 |
Mogs-Cdg |
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Hypothyroidism, Hepatosplenomegaly, Thrombocytopenia, Inappropriate antidiuretic hormone secretion |
ORPHA:79330 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Thrombocytopenia, Osteolysis involving bones of the lower limbs, Osteolysis, Osteolysis involving... |
ORPHA:464321 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Splenomegaly, Acute promyelocytic leukemia, Osteopenia, Autoimmune thrombocytopenia, Osteoporosis... |
ORPHA:77293 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Ivic Syndrome |
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Thrombocytopenia, Leukocytosis |
ORPHA:2307 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Hypoglycemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia |
ORPHA:79282 |
Gaucher Disease |
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Increased bone mineral density, Splenomegaly, Osteopenia, Abnormal bone structure, Osteolysis, De... |
ORPHA:355 |
Osteopetrosis With Renal Tubular Acidosis |
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Secondary hyperparathyroidism, Osteopetrosis, Leukopenia, Elliptocytosis, Pancytopenia, Anemia, T... |
ORPHA:2785 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Lymphopenia, Craniosynostosis, Severe B lymphocytopenia, Accessory spleen, Hypothyroidism, Anemia... |
OMIM:620005 |
Idiopathic Hypereosinophilic Syndrome |
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Neutrophilia, Myelofibrosis, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophili... |
ORPHA:3260 |
Lathosterolosis |
|
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology |
ORPHA:46059 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Anemia, Thrombocytopenia |
ORPHA:261323 |
Dubowitz Syndrome |
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Hypoparathyroidism, Craniosynostosis, Thrombocytopenia, Abnormality of neutrophils, Anemia, Acute... |
ORPHA:235 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Anemia, Leukopenia, Glycosuria, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia... |
ORPHA:447 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:277400 |
Shwachman-Diamond Syndrome 2 |
|
Thrombocytopenia, Normocytic anemia, Neutropenia |
OMIM:617941 |
Hellp Syndrome |
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Hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased mean corpuscular... |
ORPHA:244242 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia |
ORPHA:36234 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Leukocytosis |
ORPHA:319213 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:90038 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Thrombocytopenia |
OMIM:301050 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:251260 |
Immunodeficiency 47 |
|
Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Thrombocytopenia |
OMIM:300972 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly |
ORPHA:505248 |
Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ... |
OMIM:105650 |
Q Fever |
|
Hepatosplenomegaly, Anemia, Thrombocytopenia, Splenomegaly |
ORPHA:781 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Splenomegaly, Osteoporosis, Microcytic anemia, Type I diabetes mellitus, Anemia, Thrombocytopenia |
OMIM:619525 |
Liver Disease, Severe Congenital |
|
Hyperinsulinemic hypoglycemia, Lymphocytosis, Splenomegaly, Leukopenia, Anemia, Thrombocytopenia |
OMIM:619991 |
Aicardi-Goutieres Syndrome 7 |
|
Splenomegaly, Hypothyroidism, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:615846 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Thrombocytopenia, Leukocytosis, Diabetes mellitus |
ORPHA:544482 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Thrombocytopenia, Leukocytosis |
ORPHA:94093 |
Fanconi Anemia |
|
Reduced bone mineral density, Abnormality of the hypothalamus-pituitary axis, Leukopenia, Hypogon... |
ORPHA:84 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia |
OMIM:619005 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Hypoglycemia, Neutrophilia in presence o... |
ORPHA:99826 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Anemia, Osteomalacia, Delayed puberty, Hyper... |
ORPHA:534 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Hemophagocytosis, Osteopenia, Hepatospleno... |
ORPHA:470 |
Tick-Borne Encephalitis |
|
Leukopenia, Thrombocytopenia, Leukocytosis |
ORPHA:297 |
Hardikar Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Osteoporosis, Thrombocytopenia, Impaired growth-hormone respons... |
OMIM:301068 |
Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Anemia, Thrombocytopenia |
ORPHA:36426 |
Dyskeratosis Congenita, X-Linked |
|
Leukopenia, Osteoporosis, Pancytopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:305000 |
Toxic Epidermal Necrolysis |
|
Anemia, Thrombocytopenia, Neutropenia |
ORPHA:537 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Abnormality of the endocrine system, Thrombocytopenia |
ORPHA:487796 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Thrombocytopenia, Splenomegaly |
OMIM:301072 |
Rift Valley Fever |
|
Anemia, Thrombocytopenia |
ORPHA:319251 |
Ogden Syndrome |
|
Polycythemia, Thrombocytopenia, Maternal diabetes, Iron deficiency anemia |
OMIM:300855 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Mult... |
ORPHA:567 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Acute leukemia, Thrombocytopenia, Autoimmune hemolytic anemia |
ORPHA:647 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Caroli Syndrome |
|
Leukopenia, Thrombocytopenia, Leukocytosis, Hypersplenism |
ORPHA:480520 |
Tangier Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:31150 |
Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia |
OMIM:122470 |
Primary Sjögren Syndrome |
|
Lymphopenia, Leukopenia, Normocytic anemia, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:289390 |
Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Thrombocytopenia, Hemolytic anemia, Decreased proportion of CD4-positive T cells, Au... |
OMIM:619573 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Delayed puberty, Pancytopenia, Anemi... |
ORPHA:2072 |
Brucellosis |
|
Leukocytosis, Splenomegaly, Leukopenia, Thrombocytosis, Anemia, Thrombocytopenia, Hypersplenism |
ORPHA:1304 |
Sarcoidosis |
|