| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Pallor, Myocardial infarction, Ab... |
ORPHA:90064 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... |
OMIM:615234 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... |
OMIM:615631 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Atrial septal defect, Pallor, Paroxysmal atrial tachycardia, Ventricular se... |
ORPHA:49827 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Pal... |
ORPHA:848 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor, Attention deficit hyperactivity disorder |
OMIM:617863 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Epistaxis, Autoimmune th... |
ORPHA:1959 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
| Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hypertension |
OMIM:189800 |
| Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... |
ORPHA:824 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Anemia, Congestive heart f... |
ORPHA:163596 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract |
ORPHA:1381 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
| Oculoauricular Syndrome |
|
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... |
OMIM:612109 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:125520 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease |
OMIM:268040 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma |
OMIM:157151 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisoc... |
OMIM:187800 |
| Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Elevated hepatic ... |
ORPHA:507 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity |
OMIM:608747 |
| Mmep Syndrome |
|
Ventricular septal defect, Microphthalmia |
ORPHA:3434 |
| Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Cholecyst... |
OMIM:266200 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Microphthalmia |
OMIM:615297 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... |
ORPHA:83461 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Iris hypopigmentat... |
ORPHA:85194 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
| Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia |
OMIM:615524 |
| Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation, Retinal detachment |
OMIM:157150 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Epistaxis, Splenomegaly |
ORPHA:721 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| +173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Intracranial hemo... |
OMIM:173470 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Purpura, Macrothrombocytopenia, Giant platelets... |
OMIM:231200 |
| Thrombocytopenia 5 |
|
Petechiae, Neutropenia, Anemia, Thrombocytopenia, Epistaxis |
OMIM:616216 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... |
OMIM:619463 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Purpura, Thrombocytopenia |
ORPHA:529 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... |
OMIM:194380 |
| Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Splenomegaly, Pallor, Arrhythmia, Hemolytic anemia, Congestive hea... |
ORPHA:98375 |
| Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
| Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Intracranial hemor... |
ORPHA:3226 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
| Elliptocytosis 1 |
|
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice |
OMIM:611804 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
| Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Thrombocytopenia, Pulmonary arterial hypertension, Stillbirth, Congestive heart f... |
OMIM:619751 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Atrial septal defect, Microphthalmia |
ORPHA:3469 |
| Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure |
ORPHA:90037 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
| Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Purpura, Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis |
ORPHA:3002 |
| Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Thrombocytopenia, Hepatic hemangioma, Congestive heart failure |
ORPHA:141179 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Excessive skin wrinkling on dorsum of hands and fingers, Bilateral microphthalmos |
OMIM:608763 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis |
OMIM:314050 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Pallor, Anisocytosis, Poikilocytosis, Elevated hepatic... |
ORPHA:98870 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... |
ORPHA:276556 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, F... |
ORPHA:276575 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Shallow anterior chamber, Aortic valve stenosis, Pulmonic stenosis, Ectopia le... |
OMIM:614819 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Abno... |
ORPHA:98826 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... |
OMIM:600462 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Transaldolase Deficiency |
|
Anemia, Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Telangiectasia, Thrombocytopenia |
ORPHA:101028 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Epistaxis |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Epistaxis |
OMIM:613554 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Megalocornea, Ventricular septal defect, Optic atrophy, Right bundle branch block, ... |
ORPHA:137675 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia, Hypertrophic cardiomyopathy |
ORPHA:295 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... |
OMIM:300908 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Arrhythmia, Thrombocytopenia, Hypertension, Sideroblastic anemia |
OMIM:617021 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, M... |
OMIM:618652 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
| Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, T... |
ORPHA:35858 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Thrombocytopenia, Hepatic hemangioma, Congestive heart failure |
ORPHA:141184 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... |
ORPHA:276580 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Pallor, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaund... |
ORPHA:90033 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:603552 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Hypertension, Thrombocytopenia, Raynaud phenomenon |
ORPHA:401945 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Fanconi Anemia, Complementation Group G |
|
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Megabladder, Congenital |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... |
OMIM:618719 |
| Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste... |
OMIM:610256 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia |
OMIM:607616 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... |
ORPHA:231226 |
| Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Myocardial infarction,... |
ORPHA:108 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Epistaxis, Macrothrombocytopenia |
OMIM:616176 |
| Nail-Patella Syndrome |
|
Microphakia, Nephrotic syndrome, Antecubital pterygium, Hematuria, Microcornea, Keratoconus, Cata... |
OMIM:161200 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Microphthalmia |
OMIM:221950 |
| Kniest Dysplasia |
|
Degenerative vitreoretinopathy, Lens luxation, Rhegmatogenous retinal detachment, Retinal detachm... |
ORPHA:485 |
| Spontaneous Periodic Hypothermia |
|
Pallor, Arrhythmia |
ORPHA:29822 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... |
ORPHA:231214 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... |
ORPHA:300298 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatomegaly, Pallor, Eosinophilia, Hepatosplenomegaly, Abnor... |
ORPHA:331206 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle... |
ORPHA:1209 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Iron deficiency anemia, Diffuse alveolar ... |
ORPHA:99931 |
| Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Hepatic failure, Aplastic anemia... |
ORPHA:398124 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Ecchymosis, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, R... |
ORPHA:88 |
| Rheumatic Fever |
|
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Myocard... |
ORPHA:3099 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Tachycardia |
ORPHA:276608 |
| Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy |
OMIM:614947 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Petechiae, Congenital thrombocytopenia, Acanthocytosis, Poikiloc... |
OMIM:300367 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope |
ORPHA:324575 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Neonatal death, P... |
ORPHA:85212 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart fai... |
ORPHA:3386 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia, Atrial septal defect, Pallor, Optic nerve hypoplasia, Ventricular septal defect, Pat... |
OMIM:609053 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... |
OMIM:108900 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... |
OMIM:618782 |
| Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Intracranial hemorrhage, Macular purpura, Shock, Internal hemorrhage, Thrombocyt... |
ORPHA:49566 |
| Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... |
ORPHA:99095 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Preeclampsia |
|
Abnormality of the hepatic vasculature, Elevated systolic blood pressure, Elevated hepatic transa... |
ORPHA:275555 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Palpitations, Anemic pallor, Abnormal mean corpusc... |
ORPHA:86839 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:249670 |
| Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hyperactivity, Dystonia |
OMIM:615924 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, H... |
OMIM:301080 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia |
OMIM:141000 |
| Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
| Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... |
ORPHA:101096 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Hyperactivity |
OMIM:618090 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Scaling skin, Dry skin |
OMIM:612952 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Tachycardi... |
ORPHA:90051 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
| Dengue Fever |
|
Petechiae, Hepatomegaly, Cerebral hemorrhage, Leukopenia, Hypotension, Gastrointestinal hemorrhag... |
ORPHA:99828 |
| Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling, Microphthalmia |
OMIM:601349 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Internal hemorrhage, Hypertension, Anemia, Thrombocytopenia |
ORPHA:69077 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... |
OMIM:610333 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Thrombocytopenia, Dry skin, Leukopenia |
OMIM:618116 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:614727 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia |
ORPHA:90045 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Pallor |
ORPHA:90036 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Dilated cardiomyopathy, Microcytic anemia, Microphthalmia |
OMIM:618805 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
| Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Pallor, Normocytic anemia, Retinal hemorrhage, Vasculitis, Abnormalit... |
ORPHA:33226 |
| Thrombotic Thrombocytopenic Purpura |
|
Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocyt... |
ORPHA:54057 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volume, Elevate... |
ORPHA:182050 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Splenomegaly, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Mi... |
ORPHA:290 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Elevated hepatic transaminase, Anemia, Thrombocytopenia, Jaundice |
ORPHA:858 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Cardiomyopathy |
ORPHA:27 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom... |
OMIM:557000 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Sengers Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy |
OMIM:212350 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... |
OMIM:308240 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenerative hyperplasia of l... |
ORPHA:210136 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Thrombocytopenia |
ORPHA:158029 |
| Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Erythema, Cardiogenic shock, Hypotension, Cerebral ischemia... |
ORPHA:449285 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:230800 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy |
ORPHA:79312 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume, Petechiae |
OMIM:273900 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia, Hepatomegaly |
OMIM:246450 |
| Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Tremor, Choreoathetosis, Hyperactivity, Dystonia |
OMIM:612716 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:613101 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Thrombocytopenia, Epistaxis, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... |
OMIM:601399 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Leukemia, Microphthalmia |
OMIM:602501 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Intracranial hemorrhage, Subarachnoid he... |
ORPHA:853 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617113 |
| Grange Syndrome |
|
Ventricular septal defect, Hypertension, Aortic regurgitation |
ORPHA:79094 |
| Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... |
OMIM:600309 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hepatomegaly |
ORPHA:2123 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Howell-Jolly bodies |
OMIM:613759 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Dilated cardiomyopathy |
ORPHA:2515 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Normochromic anemia, Reticulocytopenia, Elevated re... |
OMIM:615550 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia... |
ORPHA:20 |
| Tufted Angioma |
|
Purpura, Anemia, Thrombocytopenia, Petechiae |
ORPHA:1063 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
| Otodental Syndrome |
|
Retinal coloboma, Microcornea, Iris coloboma, Cataract, Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
| Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu... |
OMIM:251880 |
| Prolidase Deficiency |
|
Petechiae, Hepatomegaly, Diffuse telangiectasia, Splenomegaly, Elevated circulating aspartate ami... |
OMIM:170100 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... |
ORPHA:98850 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Atrial septal defect, Arrhythmia, Ventricular septal defect, Situs inversus... |
OMIM:249270 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:1388 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... |
OMIM:150550 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Thrombocytopenia,... |
OMIM:603585 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Pulmonic stenosis, Renal hypoplasia, Patent foramen ovale, Microphthalmia, Lens coloboma |
OMIM:618914 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:289916 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Diffuse alveolar hemorrhage, Pancytopenia, Anemia, Thrombocytopenia, Reduced natura... |
OMIM:616050 |
| Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,... |
ORPHA:905 |
| Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Seckel Syndrome 2 |
|
Heart murmur, Microphthalmia |
OMIM:606744 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Left bundle branch block, Myofiber disarray, Co... |
OMIM:115197 |
| Isolated Agammaglobulinemia |
|
Abnormal lymphocyte morphology, Abnormality of neutrophils, Skin ulcer, Anemia, Thrombocytopenia |
ORPHA:229717 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia |
OMIM:212550 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
| Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Cerebellar hemorrhage, Pancytopenia |
OMIM:243500 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormal heart valve physiology, Coombs-positive hemolytic anemia, Pulmonary emb... |
ORPHA:464343 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Leukopenia, Tachycardia, Epistaxis, Hypotension, Elevated hepatic tra... |
ORPHA:91547 |
| Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Portal fibrosis,... |
ORPHA:3260 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Pallor, Hypotension, Thrombocytosis, Hypertension |
ORPHA:134 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation |
ORPHA:83473 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Mitral regu... |
OMIM:612561 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum |
OMIM:616576 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Pallor, Tachycardia, Elevated hepatic transamin... |
ORPHA:263455 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Transaldolase Deficiency |
|
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cir... |
OMIM:606003 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Dystonia, Athetosis |
ORPHA:382 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... |
OMIM:139090 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
| Pierpont Syndrome |
|
Excessive wrinkling of palmar skin, Microphthalmia |
ORPHA:487825 |
| Congenital Fibrinogen Deficiency |
|
Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Mi... |
ORPHA:335 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-... |
OMIM:613011 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Supravalvular aortic stenosis |
OMIM:618624 |
| Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Microphthalmia, Arrhythmia, Membranous subvalvular aortic stenosis |
ORPHA:3191 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Microphthalmia |
ORPHA:93267 |
| Acute Promyelocytic Leukemia |
|
Petechiae, Leukocytosis, Diffuse alveolar hemorrhage, Leukopenia, Pancytopenia, Purpura, Ecchymos... |
ORPHA:520 |
| Weill-Marchesani Syndrome 1 |
|
Microspherophakia, Aortic valve stenosis, Shallow anterior chamber, Pulmonic stenosis, Mitral reg... |
OMIM:277600 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Fumarase Deficiency |
|
Polycythemia, Pallor, Cholestasis, Hepatic failure |
OMIM:606812 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Hepatic failure, Hypertrophic cardiomyopathy, Elevated hepatic ... |
OMIM:611126 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... |
ORPHA:137902 |
| Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... |
ORPHA:99094 |
| Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Anemia, Thrombocytopenia |
OMIM:608104 |
| Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Leukocytosis, Hepatic failure, Hematemesi... |
ORPHA:480520 |
| Plummer-Vinson Syndrome |
|
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Petechiae, Hemophagocytosis, S... |
ORPHA:540 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
