| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor |
ORPHA:46532 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect |
OMIM:607941 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... |
ORPHA:90064 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia |
ORPHA:517 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... |
OMIM:615234 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... |
OMIM:615631 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos |
OMIM:613703 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly |
ORPHA:228312 |
| Oculoauricular Syndrome |
|
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... |
OMIM:612109 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Megaloblastic ane... |
ORPHA:49827 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Beta-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... |
ORPHA:848 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... |
OMIM:617319 |
| Ventricular Septal Defect 1 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614429 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Evans Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropenia in presence of a... |
ORPHA:1959 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation |
ORPHA:171844 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly, Pallor |
OMIM:613839 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Elevated hepatic transaminase, Hypertension |
OMIM:189800 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Thrombocytopenia 2 |
|
Thrombocytopenia |
OMIM:188000 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:610539 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... |
OMIM:615285 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Retinal detachment, Microspherophakia, Lens subluxation, Lens coloboma |
OMIM:157151 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hypertension |
OMIM:166990 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin, ... |
ORPHA:163596 |
| Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation, Retinal detachment |
OMIM:157150 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin |
ORPHA:231393 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Primary Myelofibrosis |
|
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Th... |
ORPHA:824 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... |
OMIM:615779 |
| Left Ventricular Noncompaction 1 |
|
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... |
OMIM:604169 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect |
OMIM:601127 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Petechiae, Giant platelet... |
OMIM:187800 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... |
OMIM:133180 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Retinohepatoendocrinologic Syndrome |
|
Degenerative liver disease, Pallor |
OMIM:268040 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... |
OMIM:619130 |
| Mmep Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:3434 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... |
OMIM:614980 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... |
OMIM:617912 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... |
ORPHA:507 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity |
OMIM:608747 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity |
OMIM:616657 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Polycythemia Vera |
|
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... |
OMIM:263300 |
| Spondylo-Ocular Syndrome |
|
Iris hypopigmentation, Ventricular septal defect, Cataract, Microphthalmia, Retinal detachment, A... |
ORPHA:85194 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Beta-Thalassemia Intermedia |
|
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... |
ORPHA:231222 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity |
OMIM:618090 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Epi... |
OMIM:173590 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Hypoplastic left atrium, Microphthalmia, Ventricular septal defect |
OMIM:615524 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormal thrombocyte morphology, Epistaxis, Splenomegaly |
ORPHA:721 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| +173470 integrin, beta-3 |
|
Impaired platelet aggregation, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epi... |
OMIM:173470 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Thrombocytopenia 5 |
|
Neutropenia, Epistaxis, Thrombocytopenia, Petechiae, Anemia |
OMIM:616216 |
| Pancytopenia And Occlusive Vascular Disease |
|
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia |
OMIM:167850 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... |
OMIM:194380 |
| Dermatitis, Atopic |
|
Pallor, Facial erythema, Dry skin |
OMIM:603165 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrocardia, Ectopia of the spleen, Ventricular septal defect |
OMIM:613751 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Intracranial hemorrhage, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil count,... |
ORPHA:3226 |
| Autoimmune Hemolytic Anemia |
|
Arrhythmia, Hemolytic anemia, Congestive heart failure, Splenomegaly, Abnormal leukocyte morpholo... |
ORPHA:98375 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... |
ORPHA:822 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect |
OMIM:601348 |
| Eosinophilia, Familial |
|
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia |
OMIM:131400 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor |
OMIM:611804 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage |
ORPHA:3002 |
| Sebastian syndrome |
|
Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bo... |
OMIM:605249 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage |
OMIM:137560 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechiae, Splenomegaly |
OMIM:314050 |
| Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Aortic valve sten... |
OMIM:614819 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Impaired ristocetin-induced pl... |
OMIM:231200 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Splenomegaly, Pallor |
ORPHA:90037 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
| Microphthalmia, Isolated 3 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Bilateral microphthalmos, Excessive skin wrinkling on dorsum of hands and fingers |
OMIM:608763 |
| Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
| Refractory Anemia |
|
Erythroid hypoplasia, Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Thro... |
ORPHA:98826 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Microphthalmia, Ventricular septal defect |
ORPHA:3469 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Palpitations, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Tachycardia, Pallor, Hypertroph... |
ORPHA:276556 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Epistaxis |
OMIM:616913 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Palpitations, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Tachycardia, Focal pancreatic i... |
ORPHA:276575 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Epistaxis |
OMIM:613554 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... |
OMIM:600462 |
| Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Atrial flutter, Corneal opacity, Megalocornea, Pulmonary edema, Cardiomegaly,... |
ORPHA:137675 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea |
OMIM:251750 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Thrombocytopenia, Myocardial infarction, Leukocyte inclusion bodies, Giant platelets, ... |
OMIM:155100 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... |
OMIM:300908 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Abnormal erythrocyte morphology, Melena, Anisocytosis, Anemia, Inc... |
ORPHA:98870 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Transaldolase Deficiency |
|
Cirrhosis, Premature skin wrinkling, Thrombocytopenia, Anemia, Hepatosplenomegaly, Telangiectasia |
ORPHA:101028 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy |
ORPHA:295 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly |
OMIM:603552 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Arrhythmia, Hypertension, Thrombocytopenia, Sideroblastic anemia, Decreased liver function |
OMIM:617021 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation, Raynaud phenomenon, Hypertension |
ORPHA:401945 |
| Letterer-Siwe Disease |
|
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly, Pallor |
OMIM:246400 |
| Kniest Dysplasia |
|
Laryngotracheomalacia, Lens luxation, Keratan sulfate excretion in urine, Lattice retinal degener... |
ORPHA:485 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Palpitations, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Tachycardia, Pallor, Hypertroph... |
ORPHA:276580 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Pallor, Splenomegaly |
ORPHA:56425 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Pallor |
OMIM:611590 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Tach... |
ORPHA:90033 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... |
OMIM:619271 |
| Babesiosis |
|
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Myocardial infarction, Congestive hea... |
ORPHA:108 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Redundant neck skin, Ca... |
OMIM:618652 |
| Fanconi Anemia, Complementation Group G |
|
Neutropenia, Thrombocytopenia, Microphthalmia, Anemia, Leukemia |
OMIM:614082 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Tremor, Ataxia, Dystonia |
OMIM:615924 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia, Congestive heart failure, Hepatic hemangioma, Telangiectasia of the skin |
ORPHA:141179 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Anemia, Macrothrombocytopenia |
OMIM:616176 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly, Elevated hepatic transaminase |
OMIM:610329 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia |
OMIM:617475 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Cirrhosis, Arrhythmia, Decreased mean corpuscular hemoglobin conce... |
ORPHA:231226 |
| Megabladder, Congenital |
|
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... |
OMIM:618719 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:611490 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Microphthalmia, Anophthalmia |
OMIM:221950 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
| Neonatal Lupus Erythematosus |
|
Heart block, Hemolytic anemia, Elevated hepatic transaminase, Abnormal electrophysiology of sinoa... |
ORPHA:398124 |
| Beta-Thalassemia Major |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... |
ORPHA:231214 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypopla... |
ORPHA:1209 |
| Idiopathic Aplastic Anemia |
|
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Retinal hemorr... |
ORPHA:88 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Angina pectoris, Pancytopenia, Acute myeloid leukemia, Hypoplastic anemia, Pulm... |
ORPHA:447 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, ... |
ORPHA:300298 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of inadequate production, Acanthocytosi... |
OMIM:300367 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive ... |
ORPHA:331206 |
| Nail-Patella Syndrome |
|
Keratoconus, Hematuria, Proteinuria, Microphakia, Cataract, Glomerulonephritis, Microcornea, Neph... |
OMIM:161200 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia |
OMIM:600208 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Syncope, Normocytic anem... |
ORPHA:98849 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Congestive heart failure, Hepatic hemangioma, Telangiectasia of the skin |
ORPHA:141184 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia |
ORPHA:169079 |
| Rheumatic Fever |
|
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... |
ORPHA:3099 |
| Fetal Gaucher Disease |
|
Stillbirth, Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hepatomegaly, Neonatal death... |
ORPHA:85212 |
| Preeclampsia |
|
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Elevated systolic blood pr... |
ORPHA:275555 |
| Myelofibrosis |
|
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly |
OMIM:254450 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Palpitations, Hepatomegaly, Tachycardia, Pallor, Syncope |
ORPHA:324575 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... |
OMIM:108900 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... |
OMIM:610256 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:249670 |
| American Trypanosomiasis |
|
Arrhythmia, Hepatomegaly, Splenomegaly, Congestive heart failure, Myocarditis, Pallor, Cardiomyop... |
ORPHA:3386 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... |
OMIM:618782 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Neutropenia, Optic nerve hypoplasia, Microphthal... |
OMIM:609053 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:278000 |
| Non-Functioning Paraganglioma |
|
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... |
ORPHA:94080 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly |
OMIM:615085 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hepatic steatosis, Epistaxis, Thrombo... |
ORPHA:99827 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Hyperactivity |
OMIM:300983 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Decreased liver function, Cardiomyopathy |
ORPHA:67048 |
| Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Ventricular septal defect |
OMIM:614947 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thrombocytopenia, Hepatomegaly, Petechiae, C... |
ORPHA:99828 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Acquired Purpura Fulminans |
|
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Pyoderma gangren... |
ORPHA:49566 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Rhabdoid Tumor |
|
Internal hemorrhage, Neoplasm of the liver, Hypertension, Thrombocytopenia, Anemia |
ORPHA:69077 |
| Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Leukopenia, Dry skin |
OMIM:618116 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Weill-Marchesani Syndrome 1 |
|
Shallow anterior chamber, Ventricular septal defect, Ectopia lentis, Patent ductus arteriosus, Mi... |
OMIM:277600 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia |
OMIM:120433 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor, Palpitations, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of in... |
ORPHA:86839 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Abnormal tricuspid valve morphology, Vent... |
ORPHA:1354 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Petechiae, Absence of alpha granules, A... |
OMIM:187900 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Pancytopenia, Anemia |
OMIM:616435 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... |
ORPHA:101096 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume |
OMIM:252270 |
| Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... |
OMIM:300835 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... |
OMIM:308240 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato... |
OMIM:610333 |
| Sepsis In Premature Infants |
|
Purpura, Leukocytosis, Hypotension, Neutropenia, Bradycardia, Thrombocytopenia, Jaundice, Hepatom... |
ORPHA:90051 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... |
OMIM:159550 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Scaling skin, Dry skin |
OMIM:612952 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Premature skin wrinkling |
OMIM:601349 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... |
OMIM:603909 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Arrhythmia, Reticulocytosis, Thrombocytopenia, Myocardial infa... |
ORPHA:54057 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:614727 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Eosinophilia |
ORPHA:90045 |
| Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Vasculitis, Hepatomegaly, Splenomegaly |
OMIM:615846 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Petechiae, Decreased mean platelet volume, Epistaxis |
OMIM:273900 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Inc... |
ORPHA:182050 |
| Weill-Marchesani Syndrome 2 |
|
Shallow anterior chamber, Ventricular septal defect, Lens luxation, Mitral regurgitation, Patent ... |
OMIM:608328 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hepatomegaly, Petechiae, Decreased liver functio... |
OMIM:617397 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Pallor |
ORPHA:90036 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Cardiomyopathy, Macrocytic anemia |
ORPHA:27 |
| Sea-Blue Histiocytosis |
|
Thrombocytopenia, Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly |
ORPHA:158029 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Thrombocytopenia... |
ORPHA:290 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity |
OMIM:301013 |
| Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
| Sengers Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy |
OMIM:212350 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis, Cardiomyopathy |
ORPHA:79312 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... |
ORPHA:521 |
| Snakebite Envenomation |
|
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Erythema, Thrombocytopenia, M... |
ORPHA:449285 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia |
ORPHA:858 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Reduced systolic function, Microphthalmia, Microcytic anemia |
OMIM:618805 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis |
OMIM:601709 |
| Gaucher Disease, Type I |
|
Epistaxis, Hypertension, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Aortic valve... |
OMIM:230800 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Epistaxis, Thrombocytopenia, Cardiac arrest, ... |
ORPHA:319218 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Cirrhosis, Pancytopenia |
OMIM:613987 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:613101 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... |
OMIM:601399 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... |
ORPHA:216694 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... |
ORPHA:248111 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Epistaxis, Normocytic anemia, H... |
ORPHA:33226 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Otodental Syndrome |
|
Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Microcornea, Microphthalmia, Anteverted... |
ORPHA:2791 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Thrombocy... |
ORPHA:99826 |
| Atrial Septal Defect 1 |
|
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... |
OMIM:108800 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Ventricular septal defect, Reticulocytopenia, Normoc... |
OMIM:615550 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
| Atrioventricular Septal Defect 3 |
|
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... |
OMIM:600309 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Microphthalmia, Ventricular septal defect |
OMIM:602501 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Nodular regenerative hyper... |
ORPHA:210136 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Subarachnoid hemorrhage, Melena, P... |
ORPHA:853 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Tremor, Ataxia, Dystonia |
OMIM:612716 |
| Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations |
|
Howell-Jolly bodies, Ventricular septal defect |
OMIM:613759 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Anemia, Hepatomegaly |
ORPHA:2123 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
| Grange Syndrome |
|
Hypertension, Aortic regurgitation, Ventricular septal defect |
ORPHA:79094 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect |
OMIM:616277 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614262 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Pallor, Poikilocytosis |
OMIM:616959 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia |
ORPHA:289916 |
| Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity |
OMIM:239500 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Hypotension, Acute pancreatitis, Hep... |
ORPHA:20 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum |
OMIM:616576 |
| Prolidase Deficiency |
|
Diffuse telangiectasia, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly... |
OMIM:170100 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Single ventricle, Ventricular septal defect, Complete atrioventricular canal defect, Secundum atr... |
OMIM:613854 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia |
OMIM:194350 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Pyoderma g... |
OMIM:150550 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia |
ORPHA:859 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Thrombocytopenia, Congestive hea... |
OMIM:611126 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Situs inversus totalis, Arrhythmia, Ventricular septal defect, Thiamine-res... |
OMIM:249270 |
| Wilson Disease |
|
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... |
ORPHA:905 |
| Tufted Angioma |
|
Thrombocytopenia, Petechiae, Anemia, Purpura |
ORPHA:1063 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... |
OMIM:617205 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Thrombocytopenia, Chronic neutropenia |
OMIM:619301 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly |
OMIM:230900 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Isovaleric Acidemia |
|
Thrombocytopenia, Cerebellar hemorrhage, Pancytopenia, Leukopenia |
OMIM:243500 |
| Transaldolase Deficiency |
|
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Decreased li... |
OMIM:606003 |
| Biemond Syndrome Type 2 |
|
Microphthalmia |
ORPHA:141333 |
| Glycine Encephalopathy |
|
Lethargy, Hyperactivity |
OMIM:605899 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:251076 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Aortic Valve Disease 1 |
|
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... |
OMIM:109730 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar hemorrhage, A... |
OMIM:616050 |
| Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Ventricular hypertrophy, Persistence of hemoglobin F, Ventricular septal de... |
OMIM:612561 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... |
OMIM:251880 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Aortic regurgitation, Neutropenia, Macrothrombocytopenia, Thrombocytopenia,... |
OMIM:603585 |
| Marfan Syndrome |
|
Aortic regurgitation, Emphysema, Pulmonary artery dilatation, Ectopia lentis, Microspherophakia, ... |
OMIM:154700 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Hypotension,... |
ORPHA:98850 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Hypotension, Hypertension, Hepatomegaly, Pallor |
ORPHA:134 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... |
OMIM:613011 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Epistaxis, Imp... |
OMIM:139090 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, S... |
OMIM:259720 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia |
OMIM:212550 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Skin ulcer |
ORPHA:229717 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Increased hepatic glycogen cont... |
ORPHA:263455 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, B lymphocytop... |
OMIM:603554 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Arrhythmia, Microphthalmia, Membranous subvalvular aortic stenosis |
ORPHA:3191 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
| Idiopathic Hypereosinophilic Syndrome |
|
Intracranial hemorrhage, Vasculitis in the skin, Chronic hepatitis, Pulmonary embolism, Anemia, N... |
ORPHA:3260 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Lens coloboma, Pulmonic stenosis, Microphthalmia, Patent foramen ovale |
OMIM:618914 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Ventricular septal defect |
ORPHA:93267 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Acute Promyelocytic Leukemia |
|
Purpura, Leukocytosis, Neutropenia, Epistaxis, Pancytopenia, Thrombocytopenia, Petechiae, Diffuse... |
ORPHA:520 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Pierpont Syndrome |
|
Excessive wrinkling of palmar skin, Microphthalmia |
ORPHA:487825 |
| Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pancreatic cysts, Pallor |
OMIM:616307 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Thrombocytopenia, Hepatomegaly, Pancreatitis, Leukopenia, Cardiomyopathy |
OMIM:251000 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... |
OMIM:208530 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
| Fechtner syndrome |
|
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Anemia |
OMIM:616740 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:615113 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver function, Anemia |
OMIM:608104 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:218670 |
| Fumarase Deficiency |
|
Polycythemia, Pallor, Hepatic failure, Cholestasis |
OMIM:606812 |
| Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Lymphopenia, Hemolytic anemia |
OMIM:616744 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Congenital throm... |
OMIM:313900 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Leukocytosis, Hypotension, Epistaxis, Thrombocytopenia, Jaundice, ... |
ORPHA:91547 |
| Caroli Syndrome |
|
Cirrhosis, Elevated hepatic transaminase, Hematemesis, Leukocytosis, Intrahepatic cholestasis, Me... |
ORPHA:480520 |
| Seckel Syndrome 2 |
|
Heart murmur, Microphthalmia |
OMIM:606744 |
| Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Angina pectoris, Abnormal he... |
ORPHA:464343 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis, Tetralog... |
OMIM:618624 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... |
ORPHA:276621 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... |
ORPHA:137902 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation, Joint hemorrhage, Epistaxis |
OMIM:277480 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia |
ORPHA:324416 |
| Congenital Enterovirus Infection |
|
