| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor... |
OMIM:300946 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Thrombocytopenia 5 |
|
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... |
OMIM:616216 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... |
OMIM:617021 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Melena, Increased mean corpuscular volume, Increased to... |
ORPHA:98870 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive... |
ORPHA:137675 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... |
OMIM:615234 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, EEG with burs... |
OMIM:261740 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Glycogen Storage Disease Ii |
|
Sinus tachycardia, Hearing impairment, Splenomegaly, Shortened PR interval, Elevated circulating ... |
OMIM:232300 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Second degree atrioventricular block, Hypomagnesemia, Palpitations, Tremor,... |
ORPHA:79102 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno... |
OMIM:185000 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Hearing impairment, Pancytopenia, Macrocytic anemia, Hypomethi... |
ORPHA:2169 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl... |
OMIM:612561 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia |
OMIM:189800 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... |
OMIM:277410 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Epistaxis, Thrombocytopenia |
OMIM:616176 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Abno... |
ORPHA:98826 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Palpitations, Leukocytosis, Anemia of inadequate production, Ab... |
ORPHA:86839 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hearing impairment, Hypertrophic cardiomyopathy, Shortened PR interval, Elevated circulating crea... |
ORPHA:308552 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Hypogonad... |
ORPHA:300298 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Hearing impairment, Mitral regurgitati... |
ORPHA:261250 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Tremor, Shortened PR interval, Wolff-Parkinson-White syndrome, Optic disc pallor, ... |
OMIM:614947 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation... |
OMIM:155100 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:613090 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Hypsarrhythmia, Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia, Sensorineural hearing imp... |
OMIM:124900 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Congestive heart fail... |
ORPHA:75564 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Decreased nerve conduction velocity, Pancytopenia, Thrombocytopeni... |
OMIM:159550 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosplenomegaly, Eryt... |
ORPHA:231222 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypotension, Shock, Decreased te... |
ORPHA:90794 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Dystonia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... |
OMIM:607616 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Portal hypertension, Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
| Systemic Lupus Erythematosus 17 |
|
Hypertensive crisis, Myelitis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon,... |
OMIM:301080 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Hearing impairment, Persistence of hemoglobin... |
OMIM:617052 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... |
OMIM:263300 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Fetal Parvovirus Syndrome |
|
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia |
ORPHA:295 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... |
OMIM:620066 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Unilateral microphthalmos, Splenomegaly, Thrombocytopenia, Anemia, Facial palsy |
OMIM:615085 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Vasculitis, Hearing impairment, Hypertrophic cardiomyopathy, Transient ischemic attack, Elevated ... |
ORPHA:365 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Intention tremor |
OMIM:610539 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Sensorineural hearing impairment, Congenital thrombocytopenia, Neutropenia, T... |
OMIM:616738 |
| Beta-Thalassemia |
|
Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, Splenomegaly, Hypogonadotrop... |
ORPHA:848 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... |
OMIM:314050 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... |
OMIM:613673 |
| Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced... |
OMIM:173590 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Tremor, Thrombocytopenia, Dystonia, Hemolytic anemia |
OMIM:615010 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... |
ORPHA:101028 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... |
OMIM:113900 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Optic disc pa... |
OMIM:616959 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Progressive sensorineural hearing impairment, Iron deficiency anemia, Thrombocytopenia, Neutropen... |
ORPHA:494444 |
| Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... |
OMIM:615193 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio... |
ORPHA:3240 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... |
OMIM:618462 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Abnormally large globe, Hypomagnesemia, Hypok... |
OMIM:241200 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megalobl... |
OMIM:249270 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Cardiomyopathy, Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemi... |
ORPHA:79312 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
| Forsythe-Wakeling Syndrome |
|
Low-set ears, Thrombocytopenia, Macrotia |
OMIM:613606 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Congestive heart failure, Sensorineural hearing impairment, Paroxysmal atrial tach... |
ORPHA:49827 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert... |
OMIM:603552 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent otitis media, Increased mean corpuscular v... |
OMIM:619774 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Dystonia, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Atresia of the external auditory canal, Hearing impairment, Re... |
OMIM:612562 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Sideroblastic anemia, Sensorineural hearing impairment, Megaloblastic anemia, Neut... |
OMIM:598500 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari syndrome, Lymphopenia, Leukopenia... |
OMIM:127550 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Decreased serum... |
ORPHA:54057 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... |
OMIM:617519 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Fanconi Anemia, Complementation Group T |
|
Hearing impairment, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Facial palsy |
OMIM:616435 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, A... |
ORPHA:27 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis |
ORPHA:289916 |
| Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Athetosis |
OMIM:229050 |
| Diamond-Blackfan Anemia |
|
Low-set ears, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence... |
ORPHA:124 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614495 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Hearing im... |
ORPHA:811 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular volume, Hemolytic an... |
OMIM:611590 |
| Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Hypertension, Raynaud phenomenon, Thrombocytopenia |
ORPHA:401945 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Congenital Toxoplasmosis |
|
Anemia, Hearing impairment, Thrombocytopenia, Microphthalmia |
ORPHA:858 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Microphthalmia |
ORPHA:1574 |
| Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Hearing impairment, Thrombocytopenia, Microphthalmia |
OMIM:619981 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Hypercalcemia, Abnormal vagina morphology, Thrombocytopenia |
ORPHA:2123 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614496 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:602522 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level |
OMIM:614492 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Tot... |
OMIM:600501 |
| Neonatal Lupus Erythematosus |
|
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Splenomegaly, Abno... |
ORPHA:398124 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Low-to-normal bl... |
OMIM:601678 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... |
OMIM:620486 |
| Bernard-Soulier Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... |
OMIM:231200 |
| Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... |
ORPHA:97214 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Reduced systolic function, Microphtha... |
OMIM:618805 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Hyponatremia, Protruding ear, Bilateral sensorineural hearing impair... |
ORPHA:89938 |
| Stt3B-Cdg |
|
Small scrotum, Optic atrophy, Cryptorchidism, Thrombocytopenia, Micropenis |
ORPHA:370924 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... |
ORPHA:52368 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Hearing impairment, Thrombocytopenia |
ORPHA:67048 |
| Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141179 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Optic atrophy, Cryptorchidism, Thrombocytopenia, Micropenis |
OMIM:615597 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Increased circul... |
OMIM:616050 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Bilateral sensorineural hearing imp... |
OMIM:616943 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Mmep Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:3434 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231226 |
| Developmental And Epileptic Encephalopathy 1 |
|
EEG with burst suppression, Hypsarrhythmia, Microphthalmia, Micropenis, Dystonia, Choreoathetosis |
OMIM:308350 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Microphthalmia |
OMIM:616570 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia, Genital ulcers |
OMIM:616744 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Low-set ears, Posteriorly rotated ears, Thrombocytopenia, Elevated circulating creatine kinase co... |
OMIM:614727 |
| Aicardi-Goutieres Syndrome 4 |
|
Low-set ears, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Dystonia |
OMIM:610333 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, Microphthalmia |
ORPHA:2528 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Microphthalmia |
OMIM:278780 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Hearing impairment, Cardiomyopathy, Sideroblastic anemia, Tremor, Sensorineural he... |
OMIM:222300 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231214 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Aplasia/Hypoplasia of the iris, Sensorineural hearing impairment, Thrombocytopenia,... |
ORPHA:290 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141184 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Methemoglobinemia, Male pseudohermaphroditism, Ambiguous genitalia, Micropenis, Hy... |
OMIM:250790 |
| Cofs Syndrome |
|
Hypogonadism, Optic atrophy, Microphthalmia, Sensorineural hearing impairment |
ORPHA:1466 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Babesiosis |
|
Congestive heart failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Myocardia... |
ORPHA:108 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... |
ORPHA:846 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Low-set ears, Leukopenia, Thrombocytopenia |
OMIM:618116 |
| Nathalie Syndrome |
|
Hearing impairment, Abnormal EKG |
OMIM:255990 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Microphthalmia |
ORPHA:141333 |
| Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:615524 |
| Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage, Thrombocytopenia, Anemia, Hypercalcemia |
ORPHA:69077 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Thrombocytopenia, Congestive heart failure |
OMIM:619751 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... |
OMIM:300835 |
| Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Relapsing Fever |
|
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... |
ORPHA:91547 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... |
OMIM:613011 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
| Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Splenomegaly, Reticulocytosis, Thrombocytopenia, Anemia, Optic disc pallor, Facial... |
OMIM:611490 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... |
OMIM:210250 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Cryptorchidism, Hypomethioninemia, Pulmona... |
OMIM:614857 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen... |
OMIM:308240 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... |
ORPHA:529799 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic ... |
ORPHA:101016 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism, Abnormality of peripheral nerve conduction, Intent... |
ORPHA:48431 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Sensorineural hearing impairment |
ORPHA:3327 |
| Muscular Dystrophy, Becker Type |
|
Arrhythmia, Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:300376 |
| Specific Granule Deficiency 2 |
|
Low-set ears, Recurrent otitis media, Simple ear, Absent neutrophil specific granules, Thrombocyt... |
OMIM:617475 |
| Myh9-Related Disease |
|
Giant platelets, Spontaneous, recurrent epistaxis, Sensorineural hearing impairment, Myocardial i... |
ORPHA:182050 |
| Slc35A1-Cdg |
|
Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Pierpont Syndrome |
|
Hearing impairment, Cryptorchidism, Uplifted earlobe, Microphthalmia, Posteriorly rotated ears, M... |
ORPHA:487825 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... |
OMIM:300367 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Ischemic stroke, Hypertension, Raynaud phenomenon, Thrombocytopenia |
OMIM:615750 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Microphthalmia, Abnormal left... |
OMIM:613155 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Hb Bart'S Hydrops Fetalis |
|
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis |
ORPHA:163596 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Amed Syndrome, Digenic |
|
Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypoplasia of the uterus |
OMIM:619151 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Hypsarrhythmia, Bradycardia, Sick sinus syndrome, Prolonge... |
ORPHA:542306 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Warburg Micro Syndrome 1 |
|
Low-set ears, Optic atrophy, External genital hypoplasia, Cryptorchidism, Microphthalmia, Macrotia |
OMIM:600118 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Neutropenia, Microp... |
OMIM:620501 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische... |
OMIM:274150 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
| Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, Cardiac arrest, S... |
OMIM:212350 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Optic atrophy, Microphthalmia |
OMIM:616171 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Opisthotonus, Splenic rupture, Internal hemo... |
ORPHA:335 |
| Pierpont Syndrome |
|
Hearing impairment, Large fleshy ears, Cryptorchidism, Microphthalmia, Micropenis, Posteriorly ro... |
OMIM:602342 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pulmonary arterial hyperte... |
OMIM:613845 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... |
OMIM:620603 |
| Idiopathic Aplastic Anemia |
|
Epistaxis, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thrombocytopenia, Neutropenia, An... |
ORPHA:88 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Male hypogonadism, Hearing impairment, Cryptorchidism, Abnormality of peripheral n... |
ORPHA:90321 |
| Leishmaniasis |
|
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc... |
ORPHA:507 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia |
OMIM:274270 |
| Propionic Acidemia |
|
Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Cerebellar hemorrhage, Neutropenia... |
OMIM:606054 |
| Atrial Septal Defect, Ostium Primum Type |
|
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... |
ORPHA:99106 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hearing impairment, Microphthalmia |
OMIM:120433 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Hyponatremia, Thrombocytopenia, Tac... |
ORPHA:449285 |
| Atrial Fibrillation, Familial, 14 |
|
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension |
OMIM:615378 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... |
OMIM:608800 |
| Fetal Cytomegalovirus Syndrome |
|
Optic atrophy, Retinal hemorrhage, Splenomegaly, Sensorineural hearing impairment, Thrombocytopen... |
ORPHA:294 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Mirage Syndrome |
|
Hypospadias, Microphallus, Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Hy... |
OMIM:617053 |
| Noonan Syndrome 12 |
|
Lymphopenia, Supravalvular aortic stenosis, Thrombocytopenia |
OMIM:618624 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Leukocytosis, Hyponatremia, Abnormal autonomic nervous system physiology, Th... |
ORPHA:83601 |
| Fryns Microphthalmia Syndrome |
|
Unicornuate uterus, Anophthalmia, Macrotia, Microphthalmia |
OMIM:600776 |
| Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Atelis Syndrome 1 |
|
Leukopenia, Glue ear, Thrombocytopenia, Anemia, Microtia |
OMIM:620184 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... |
OMIM:610532 |
| Isolated Agammaglobulinemia |
|
Abnormal lymphocyte morphology, Otitis media, Thrombocytopenia, Anemia, Abnormality of neutrophils |
ORPHA:229717 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granul... |
OMIM:187900 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Vasculitis, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Splenomegaly, Elevated prop... |
OMIM:603909 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopenia,... |
OMIM:603585 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Optic disc drusen, Microphthalmia |
OMIM:611040 |
| 2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia |
ORPHA:1617 |
| Fanconi Anemia, Complementation Group E |
|
Hearing impairment, Pancytopenia, Microphthalmia, Cryptorchidism, Anemia, Reticulocytopenia, Neut... |
OMIM:600901 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Xk Aprosencephaly Syndrome |
|
Abnormal external genitalia, Microphthalmia |
ORPHA:3469 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... |
OMIM:619802 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Sensorineural hearing impairment |
OMIM:274240 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor |
OMIM:250800 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia |
ORPHA:363741 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Low-set ears, Elevated circulating creatinine concentration, Cryptorchidism, Thr... |
OMIM:608104 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Hearing impairment, Microphthalmia |
OMIM:610023 |
| Chediak-Higashi Syndrome |
|
Hemophagocytosis, Decreased nerve conduction velocity, Leukopenia, Giant neutrophil granules, Spl... |
OMIM:214500 |
| Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Optic atrophy, Septo-optic dysplasia, Microphthalmia |
ORPHA:1528 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll... |
OMIM:153670 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukoc... |
ORPHA:98850 |
| Preeclampsia |
|
Elevated systolic blood pressure, Elevated diastolic blood pressure, Elevated circulating creatin... |
ORPHA:275555 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
| Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Pericarditis |
OMIM:152700 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Athetosis, Limb dystonia |
ORPHA:621 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Arrhythmia, Tachycardia, Hyperkalemia, Hypocalcemia, Abnormal autonomic nervou... |
ORPHA:94093 |
| Tularemia |
|
Leukocytosis, Otitis media, Thrombocytopenia, Anemia, Tachycardia |
ORPHA:3392 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response, Anemia, Tachycardia, Hypertension |
OMIM:184850 |
| Fanconi Anemia, Complementation Group R |
|
Anemia, Tethered cord, Microphthalmia |
OMIM:617244 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Cardiomyopathy, Tremor, Thrombocytopenia, Dystonia, Athetosis |
OMIM:617710 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:309930 |
| Zika Virus Disease |
|
Myelitis, Optic disc hypoplasia, Transient hearing impairment, Abnormal optic disc morphology, Th... |
ORPHA:448237 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Sensorineural hearing impairment, Thrombocytopenia, A... |
ORPHA:3226 |
| Fanconi Anemia, Complementation Group A |
|
Hearing impairment, Pancytopenia, Microphthalmia, Cryptorchidism, Anemia, Reticulocytopenia, Neut... |
OMIM:227650 |
| Acquired Methemoglobinemia |
|
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia |
ORPHA:464453 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation... |
OMIM:230800 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... |
OMIM:301110 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Portal hypertension, Thrombocytopenia, Increased circulating ferritin concent... |
ORPHA:210136 |
| Mogs-Cdg |
|
Optic atrophy, External genital hypoplasia, Hepatosplenomegaly, Sensorineural hearing impairment,... |
ORPHA:79330 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Persistent fetal... |
OMIM:618775 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Sensorineural hearing impairment, Tinnitus, Spinal hemangioblastoma, Epididymal cys... |
OMIM:193300 |
| Immune Thrombocytopenia |
|
Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Thrombocytopenia, Cerebral hemorrhage |
ORPHA:3002 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... |
OMIM:617443 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
EEG abnormality, Thrombocytopenia, Sensorineural hearing impairment |
OMIM:616577 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Optic atrophy, Hand tremor, Postural tremor, Sensorineural hearing impairment, Abnormal spinal co... |
ORPHA:99947 |
| Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Abnormal spinal cord morphology, Hearing impairment, Sensorineural... |
ORPHA:494 |
| Myoclonic-Astatic Epilepsy |
|
EEG with irregular generalized spike and wave complexes, Microphthalmia, EEG with polyspike wave ... |
ORPHA:1942 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Abnormal autonomic ne... |
ORPHA:139578 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Large earlobe, Microphthalmia |
OMIM:602501 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Low-set ears, Hearing impairment, Large earlobe, Leukopenia, Cryptorchidism, Elevated circulating... |
OMIM:301056 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Microphthalmia, Syndromic 13 |
|
Anteverted ears, Microphthalmia |
OMIM:300915 |
| Bresek Syndrome |
|
Low-set ears, Hearing impairment, Decreased testicular size, Cryptorchidism, Protruding ear, Agan... |
ORPHA:85284 |
| Quebec Platelet Disorder |
|
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Aregenerative Anemia |
|
Fatigable weakness of skeletal muscles, Pancytopenia, Decreased proportion of CD4-positive helper... |
ORPHA:101096 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hypotension, Cardiomyopathy, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal ... |
ORPHA:292 |
| Castleman Disease |
|
Restrictive cardiomyopathy, Anemia, Thrombocytopenia, Elevated circulating C-reactive protein con... |
ORPHA:160 |
| Neurooculocardiogenitourinary Syndrome |
|
Low-set ears, Bilateral cryptorchidism, Tricuspid regurgitation, Sensorineural hearing impairment... |
OMIM:618652 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Facial paralysis, Extramedullary hematopoiesis, Cranial nerve compression, Hepatos... |
OMIM:259710 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic anemia, Low-set, posteriorly rotat... |
ORPHA:98791 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Subarachnoid ... |
OMIM:185070 |
| Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hype... |
OMIM:251110 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cryptorchidism, Microphthalmia |
OMIM:613730 |
| Acquired Purpura Fulminans |
|
Shock, Internal hemorrhage, Thrombocytopenia, Elevated circulating C-reactive protein concentrati... |
ORPHA:49566 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cervical myelopathy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearin... |
OMIM:619260 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Cerebral... |
OMIM:618886 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... |
OMIM:235400 |
| Dengue Fever |
|
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Thrombocytopenia, Cerebral hemor... |
ORPHA:99828 |
| Meckel Syndrome, Type 8 |
|
Low-set ears, Ambiguous genitalia, Anophthalmia, Microphthalmia |
OMIM:613885 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Cat-Eye Syndrome |
|
Hearing impairment, Microphthalmia |
ORPHA:195 |
| Vexas Syndrome |
|
