Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... |
ORPHA:3319 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Angioid streaks of the fundus, Hyperostosis, Subperiosteal bone formation, Hyperphosp... |
OMIM:211900 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil... |
ORPHA:673 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Macular scar, Hydroxyprolinemia, Osteoporosis, Angioi... |
OMIM:239000 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Papilledema, Retinal calcification, H... |
OMIM:127000 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... |
ORPHA:36913 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia |
OMIM:612462 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis, Hyperphosphatemia |
OMIM:103580 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Optic disc pallor, Splenomegaly, O... |
OMIM:611490 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Atri... |
ORPHA:49827 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anorexia, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Cardiomyopathy, Chor... |
ORPHA:79312 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Lethargy |
OMIM:605899 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Intermediate Osteopetrosis |
|
Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Osteosclero... |
ORPHA:210110 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia |
OMIM:241410 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Cortical thickening of long bone diaphyses, Hypocalcemic seiz... |
ORPHA:93325 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... |
ORPHA:94089 |
Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Cardi... |
ORPHA:27 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys... |
ORPHA:94093 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Ataxia, Situs inversus ... |
OMIM:249270 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Choreoathetosis, Hypero... |
ORPHA:79443 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density,... |
ORPHA:848 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thro... |
ORPHA:289916 |
Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Bone cyst, Osteolysis, Gait disturbance, Hypocalcemia, Hypophosphatemia, Abnormal b... |
ORPHA:93160 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Thrombocytopenia |
ORPHA:1980 |
Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
OMIM:603552 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Cystinosis |
|
Abnormal repetitive mannerisms, Rickets, Hypokalemia, Gait disturbance, Hypophosphatemia, Polydip... |
ORPHA:213 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
Linear Verrucous Nevus Syndrome |
|
Retinopathy, Hypophosphatemia, Aplasia/Hypoplasia of the fovea, Reduced bone mineral density |
ORPHA:2611 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Loss of ambulation, Thrombocytopenia |
OMIM:615010 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... |
OMIM:231095 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79444 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Difficulty walkin... |
OMIM:600081 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Osteoporosis, Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Red... |
ORPHA:157215 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Optic atrophy, Epiphyseal stippling, Hyperphosphatemia, Calvarial ... |
OMIM:101800 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology |
DECIPHER:39 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia |
OMIM:229050 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone... |
OMIM:241530 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior |
ORPHA:75858 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Thrombocytopenia |
ORPHA:858 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia |
OMIM:615924 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial hyperostosis, Optic atrophy... |
OMIM:259710 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Abnormal circulating glutamine concentrati... |
ORPHA:101028 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Craniosynostosis, Thrombocytopenia, S... |
OMIM:259700 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemic seizures, Hypocalc... |
OMIM:264700 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond... |
ORPHA:423 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Osteoporosis, Hyperammonemia, Anemia, Cardiomyopathy, Hyperglycinemia... |
OMIM:606054 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300554 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Anemia, Leuko... |
ORPHA:507 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... |
ORPHA:466650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Optic atrophy, Dysmetria, Cardiomyopathy, At... |
OMIM:617710 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemic seiz... |
ORPHA:289157 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly |
ORPHA:2123 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemic seizures, Difficul... |
OMIM:277440 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Atrial s... |
OMIM:620184 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... |
OMIM:139090 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia |
OMIM:612716 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, ... |
ORPHA:98850 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:613388 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of... |
OMIM:614171 |
Thyrocerebrorenal Syndrome |
|
Nonprogressive cerebellar ataxia, Thrombocytopenia |
ORPHA:3327 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia |
OMIM:598500 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Leukopenia, Thrombocytopenia |
ORPHA:108 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Optic atrophy, Cardiomyopathy, Pigmentary ret... |
OMIM:222300 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Anorexia, Hypersplenism, ... |
ORPHA:77259 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia |
OMIM:239200 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Lethargy, Thrombocytopenia |
OMIM:243500 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Anorexia, Hyperammonemia, Lethargy, Thrombocytopenia |
ORPHA:79242 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Retinopathy, Thrombocytopenia |
ORPHA:158029 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... |
OMIM:614857 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Gait disturbance, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Cardiomyopathy, Hyperglycinemia... |
OMIM:251000 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Rickets, Hypophosphatemia, Hypophosphat... |
OMIM:307800 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Thrombocyto... |
OMIM:619151 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Thrombocytopenia |
ORPHA:67048 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Splenomegaly, Anemi... |
ORPHA:290 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Hypercalcemia, Fibrous dysp... |
ORPHA:249 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypouricemia, Rickets, Hypophosphatemia |
OMIM:616026 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
Sengers Syndrome |
|
Osteopenia, Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosi... |
ORPHA:824 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
Noonan Syndrome 12 |
|
Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia |
OMIM:618624 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemoph... |
OMIM:301078 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia |
OMIM:617475 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Optic d... |
OMIM:259720 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... |
OMIM:617302 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Dysphagia |
OMIM:619751 |
Dent Disease 1 |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300009 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thro... |
OMIM:613839 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Thrombocytopenia |
OMIM:274240 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hypercalcemia, Waddling gait, Hypophosphatemia |
OMIM:156400 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251110 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosem... |
OMIM:227810 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased c... |
OMIM:603553 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... |
ORPHA:31824 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Mitral valve calcification, Abnormal ... |
ORPHA:77261 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Rickets, Hypophosphatemia |
ORPHA:2088 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal opt... |
ORPHA:3226 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hepatomegaly, Ataxia, Splenomegaly, Hypomagnesemia, Dysphagia, Abn... |
ORPHA:699 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Hyperhomo... |
OMIM:277380 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Myocardial fibrosis, Thrombocytopenia, Hepatospleno... |
ORPHA:210136 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Ataxia, Elevated circulating creatine kinase co... |
OMIM:610377 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia,... |
ORPHA:411629 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Dengue Fever |
|
Hepatomegaly, Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia, Dysphagia |
OMIM:615750 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Cog4-Cdg |
|
Hypercholesterolemia, Ataxia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating ... |
ORPHA:381 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia |
OMIM:600740 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal... |
ORPHA:77293 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Wilson Disease |
|
Hepatomegaly, Aggressive behavior, Splenomegaly, Hypersexuality, Anemia, Difficulty walking, Thro... |
ORPHA:905 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Dilated cardiomyopat... |
ORPHA:398124 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Thrombocytopenia, Splenomegaly, ... |
OMIM:214500 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Aortic valve st... |
OMIM:230800 |
Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneury... |
ORPHA:562 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:603909 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Alg8-Cdg |
|
Hyponatremia, Ataxia, Optic atrophy, Anemia, Retinopathy, Thrombocytopenia |
ORPHA:79325 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Ataxia, Osteoporosis, Leukopenia, Exudative retinopathy, Thrombocy... |
OMIM:613990 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Abnormal heart morphology, Neutropenia, Lethargy, Thrombocytopenia |
ORPHA:391673 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Reduced bone m... |
ORPHA:667 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Osteolysis, Anemia, Neutropenia, Abnormal lymphocyte mo... |
ORPHA:47612 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... |
OMIM:618886 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Retinal dystrophy, Thromboc... |
OMIM:617052 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
ORPHA:158048 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Oral-pharyngeal dysphagia, Splenomegaly, Retinal pigment epithelial m... |
OMIM:219800 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia |
OMIM:152700 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Craniosynostosis, Splenomegaly, Neutropenia in presence of anti-neut... |
ORPHA:525731 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Hyperammonemia, ... |
ORPHA:292 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Inability to walk, Optic atrophy, Enlarged kidney, Anemia, Leukopenia... |
OMIM:617303 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Elevated circulating creatine kinase concentration, Peric... |
OMIM:618775 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... |
OMIM:619644 |
Overlap Myositis |
|
Elevated circulating creatine kinase concentration, Abnormal heart morphology, Leukopenia, Diffic... |
ORPHA:206572 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Mitral valve calcificatio... |
ORPHA:355 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Lethargy |
ORPHA:469 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce... |
OMIM:614576 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria, Dysphag... |
OMIM:252930 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
Snakebite Envenomation |
|
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia, Thrombocytopenia |
ORPHA:449285 |
Stt3B-Cdg |
|
Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Hypouricemia, Autoimmune thrombocytopenia, Ab... |
ORPHA:760 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular s... |
OMIM:608104 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Isolated Agammaglobulinemia |
|
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils |
ORPHA:229717 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... |
ORPHA:3240 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Hepatomegaly, Abnormal... |
ORPHA:470 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Leukopenia, Neutropenia, Thr... |
OMIM:613989 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Thrombocytopenia |
OMIM:615597 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, Difficulty walking, Dysphagia,... |
ORPHA:572798 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Inability to walk, Thrombocytopenia |
OMIM:616577 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... |
ORPHA:167 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Anemia, ... |
OMIM:606003 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Cran... |
OMIM:301056 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia... |
OMIM:618048 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, High nonceruloplasmin-bound serum copper, Atrial sept... |
ORPHA:457351 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Megaloblastic anemia, Dilate... |
ORPHA:79282 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Citrullinemia Type Ii |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypercholesterolemia... |
ORPHA:247585 |
Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:619463 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis, Retinal hemorrhage, Abnormal heart mor... |
ORPHA:464321 |
Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
Mirage Syndrome |
|
Hyponatremia, Radial club hand, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, L... |
OMIM:617053 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Hepatomegaly, Lethargy, Thrombocytopenia |
OMIM:617397 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Inability to walk, Splenomegaly, Cardiomyopathy, Self-mutilation, Thrombocytopenia |
OMIM:225750 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... |
OMIM:127550 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Waddling gait, Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Neutropeni... |
OMIM:242900 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Anorexia, Thrombocytopenia, Reticulocytopenia, ... |
OMIM:557000 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Leukocytosis, Anemia, Leukopenia, Addictive alcohol use, Neutropenia, Thr... |
ORPHA:520 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:540 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Delayed... |
ORPHA:1652 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Thrombocytopenia, Persis... |
OMIM:260400 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Retinal telangiectasia, Osteoporosis, Optic atrophy, Anemia, Exudative retino... |
OMIM:612199 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia |
ORPHA:47 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Hyperammonemia, Hypertr... |
ORPHA:99901 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Dysmetria, Supravalvar pulmonary stenosis, Anemia, Vitre... |
OMIM:620185 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute m... |
ORPHA:811 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Osteomalacia, Chorioretinal dysplasia, Thrombocytopenia, Self-injuri... |
ORPHA:534 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov... |
OMIM:208085 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Thromb... |
OMIM:608013 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Tongue thrusting, Anemia, Self-injurious behavior, Stereotypical body rocking, Bru... |
ORPHA:261323 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia |
OMIM:619980 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Thrombocytopenia |
OMIM:254900 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circu... |
ORPHA:247691 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating ... |
ORPHA:3337 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Giant platelets, Anemia, Left ventricular hypertrophy, Thrombocytopenia |
OMIM:611209 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... |
OMIM:608233 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Castleman Disease |
|
Myelofibrosis, Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corp... |
ORPHA:160 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Rickets, Reduced bone mineral density, Hypophosphat... |
ORPHA:89936 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Immunodeficiency 22 |
|
Pericarditis, Retinal vasculitis, Anemia, Decreased proportion of CD4-positive helper T cells, Th... |
OMIM:615758 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Osteoporosis, Hypophosphatemia, Dysphagia, Polydipsia |
ORPHA:99880 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Muscular ventricular septal defect, Biventricular hypertrophy, ... |
ORPHA:79324 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Inability to walk, Optic atrophy, Enlarged kidney, Hepatospl... |
ORPHA:505248 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Phonic tics, Choreoat... |
OMIM:234200 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Parathyroid Carcinoma |
|
Hypercalcemia, Osteoporosis, Hypophosphatemia, Dysphagia, Polydipsia |
ORPHA:143 |
Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia |
OMIM:259775 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Myocarditis, Retinal arterial occlusion, Coombs-positive hemolyt... |
ORPHA:464343 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Farber Disease |
|
Osteoporosis, Hepatosplenomegaly, Anemia, Macular degeneration, Cherry red spot of the macula, Th... |
ORPHA:333 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Osteopor... |
OMIM:222700 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, ... |
ORPHA:2785 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia |
OMIM:224230 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... |
ORPHA:79330 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal spleen morph... |
ORPHA:464329 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating p... |
ORPHA:79277 |
Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:170100 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Increased mean corpusc... |
ORPHA:261250 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokines... |
OMIM:610217 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... |
OMIM:612541 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia |
OMIM:611126 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Osteolysis, Elevated circulating uropor... |
OMIM:263700 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
Takenouchi-Kosaki Syndrome |
|
Ataxia, Increased mean platelet volume, Optic atrophy, Abnormal cardiac septum morphology, Pulmon... |
OMIM:616737 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Rod-cone dystrophy, Thrombocytopenia |
ORPHA:96181 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer ... |
ORPHA:79124 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia |
ORPHA:3322 |
Fibular Hemimelia |
|
Craniosynostosis, Abnormal heart morphology, Difficulty walking, Abnormal bone ossification, Thro... |
ORPHA:93323 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:610733 |
Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Patent foramen ovale, Thrombocytopenia, Hepatomegaly |
OMIM:251290 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
ORPHA:169090 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... |
ORPHA:580 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:600901 |
Shigellosis |
|
Hyponatremia, Anorexia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Microangiopa... |
ORPHA:810 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy |
OMIM:229600 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Ret... |
OMIM:603903 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Sple... |
ORPHA:781 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... |
OMIM:251880 |
Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Ventricular septal defect, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
Schimke Immuno-Osseous Dysplasia |
|
Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... |
ORPHA:1830 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Left ventricular hypertrop... |
ORPHA:31150 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... |
ORPHA:391487 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:616271 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227650 |
Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:616433 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... |
ORPHA:36234 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Attention deficit hyperactivity disorder, Abnor... |
OMIM:619005 |
Rift Valley Fever |
|
Retinitis, Anorexia, Retinal hemorrhage, Macular edema, Anemia, Retinal vasculitis, Thrombocytopenia |
ORPHA:319251 |
Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,... |
ORPHA:508542 |
Sepsis In Premature Infants |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:90051 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia |
ORPHA:93552 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
OMIM:301054 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia |
OMIM:616638 |
Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia, Thrombocytopenia |
OMIM:308230 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Thrombocytopenia |
OMIM:230900 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Pericarditis, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Thrombocytopenia |
OMIM:612394 |
Adams-Oliver Syndrome |
|
Leukopenia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Thrombocytopenia |
ORPHA:974 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated ... |
ORPHA:3260 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Leukopenia, Dys... |
ORPHA:319213 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp... |
OMIM:300972 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Attention deficit hyperactivi... |
OMIM:227646 |
Brucellosis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Anorexia, Hype... |
ORPHA:1304 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Retinal pigment epitheli... |
OMIM:251260 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Lig4 Syndrome |
|
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia |
OMIM:606593 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Dysphagia |
ORPHA:169105 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... |
OMIM:227645 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Mitral valve calcification, Broad-based gait, Abnormality of the splee... |
ORPHA:2072 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Ataxia, Elevated circulating C-reactive protein concentration, Anorexia, Splenomega... |
ORPHA:50918 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Leukopenia, Dyspha... |
ORPHA:297 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia |
OMIM:620072 |
Toxic Epidermal Necrolysis |
|
Neutropenia, Anemia, Dysphagia, Abnormal myocardium morphology, Polydipsia, Thrombocytopenia |
ORPHA:537 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormality of thrombocytes, Abnormal pulmonary valve morphology, Reti... |
ORPHA:567 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Papilledema, Anorexia, Retinal hemorrhage, Chorioretinitis, Hyperprot... |
ORPHA:509 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia |
ORPHA:3320 |
Dyskeratosis Congenita |
|
Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, Anemia, C... |
ORPHA:1775 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Leukopenia, Thrombocytopenia, Anemia |
OMIM:603467 |
Dubowitz Syndrome |
|
Abnormality of neutrophils, Craniosynostosis, Acute lymphoblastic leukemia, Anemia, Attention def... |
ORPHA:235 |
Hardikar Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypersplenism, Splenomegaly, Partial anomalous pulmonary... |
OMIM:301068 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Hepatomegaly, Ataxia, Splenomegaly, Truncal ataxia, Thrombocytopenia |
OMIM:301072 |
Recon Progeroid Syndrome |
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Thrombocytopenia, Anemia |
OMIM:620370 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Stevens-Johnson Syndrome |
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Abnormality of neutrophils, Thrombocytopenia, Dysphagia, Abnormal myocardium morphology, Anemia |
ORPHA:36426 |
Jacobsen Syndrome |
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Ventricular septal defect, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Atrial sept... |
OMIM:147791 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Ventricular septal defect, Anemia, Hypocalcemia, Hyperbilirubinemia, Atrial septal defect, Thromb... |
ORPHA:163979 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Atria... |
OMIM:619991 |
Lathosterolosis |
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Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Hepatomegaly |
ORPHA:46059 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Atrial septal def... |
OMIM:620005 |
Ogden Syndrome |
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Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Blue Rubber Bleb Nevus |
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Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Insulin-Resistance Syndrome Type B |
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Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Abnormal... |
ORPHA:2298 |
Aicardi-Goutieres Syndrome 7 |
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Hemolytic anemia, Pancytopenia, Hepatomegaly, Pericardial effusion, Splenomegaly, Increased circu... |
OMIM:615846 |
Dyskeratosis Congenita, X-Linked |
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Acute myeloid leukemia, Pancytopenia, Ataxia, Osteoporosis, Optic atrophy, Anemia, Leukopenia, Th... |
OMIM:305000 |
Kasabach-Merritt Syndrome |
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Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Cornelia De Lange Syndrome 1 |
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Ventricular septal defect, Optic disc coloboma, Optic atrophy, Self-injurious behavior, Thrombocy... |
OMIM:122470 |
Ivic Syndrome |
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Leukocytosis, Tetralogy of Fallot, Thrombocytopenia |
OMIM:147750 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Hemolytic anemia, Myocarditis, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocyt... |
ORPHA:544482 |
Osteogenesis Imperfecta |
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Osteopenia, Abnormal endocardium morphology, Ataxia, Osteoporosis, Mitral valve prolapse, Decreas... |
ORPHA:666 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Ano... |
ORPHA:99827 |
Caroli Syndrome |
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Hepatomegaly, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbiliru... |
ORPHA:480520 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... |
OMIM:617718 |
Fanconi Anemia |
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Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Reduced bone mineral density, Leuko... |
ORPHA:84 |
Deeah Syndrome |
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Decreased hemoglobin concentration, Hepatomegaly, Dysphagia, Self-mutilation, Thrombocytopenia |
OMIM:619004 |
Ivic Syndrome |
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Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Hellp Syndrome |
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Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... |
ORPHA:244242 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Increased mean platelet volume, Optic atrophy, Abnormal heart morphology, Total anomalous pulmona... |
ORPHA:487796 |
Histidinemia |
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Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Nijmegen Breakage Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Attention deficit hyperactivity di... |
ORPHA:647 |
Thrombocytopenia-Absent Radius Syndrome |
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Ventricular septal defect, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Atrial septal ... |
OMIM:274000 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, T... |
OMIM:619525 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Increased serum ... |
ORPHA:731 |
Jacobsen Syndrome |
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Ventricular septal defect, Hypoplastic left heart, Attention deficit hyperactivity disorder, Aort... |
ORPHA:2308 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
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Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
Aicardi-Goutières Syndrome |
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Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal... |
ORPHA:51 |
Sarcoidosis |
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Hemolytic anemia, Hepatomegaly, Eosinophilia, Hypercalcemia, Thrombocytopenia, Increased T cell c... |
ORPHA:797 |
Systemic Lupus Erythematosus |
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Leukopenia, Hemolytic anemia, Retinopathy, Thrombocytopenia |
ORPHA:536 |
Digeorge Syndrome |
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Ventricular septal defect, Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Attentio... |
OMIM:188400 |
Alport Syndrome 1, X-Linked |
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Thrombocytopenia |
OMIM:301050 |
Primary Sjögren Syndrome |
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Normocytic anemia, Leukopenia, Normochromic anemia, Optic neuritis, Decreased proportion of CD4-p... |
ORPHA:289390 |
Acute Liver Failure |
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Hyperammonemia, Agitation, Ataxia, Thrombocytopenia |
ORPHA:90062 |
Yellow Fever |
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Neutrophilia, Elevated circulating creatine kinase concentration, Pancreatic hyperplasia, Leukocy... |
ORPHA:99829 |
Roberts Syndrome |
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Thrombocytopenia, Craniosynostosis |
ORPHA:3103 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia |
ORPHA:79078 |
Noonan Syndrome 1 |
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Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Pu... |
OMIM:163950 |