| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:615234 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... |
ORPHA:98870 |
| Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... |
ORPHA:90044 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal ... |
OMIM:108950 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Ju... |
ORPHA:137675 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Splenomegaly, Sinus tachycardia, Increased ... |
OMIM:232300 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Fanconi Anemia, Complementation Group G |
|
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Palpitations, Shortened PR... |
ORPHA:79102 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... |
ORPHA:2169 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemoglobin F, Macrocytic ... |
OMIM:612561 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
| Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
| Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia |
OMIM:189800 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Abno... |
ORPHA:98826 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Palpitations, Abnormal mean corpuscular volume, Re... |
ORPHA:86839 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Shortened PR interval, Bradycardia, Cardiomyopathy, Congestive heart failure |
OMIM:261740 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular outflow tract obstruction, Elevated circulating creatine kinase concentration, H... |
ORPHA:308552 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Protruding ear, Cryptorchidism, Optic nerve hypoplasia, Mitral... |
ORPHA:261250 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia, Hyperkalemia |
OMIM:141000 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Decreased testicular size, Hypsarrhythmia |
OMIM:601815 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
EEG abnormality, Arrhythmia, Thrombocytopenia, Hypertension, Sideroblastic anemia |
OMIM:617021 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Sensorineural hearing impairment, Impaired epinephrine-induced platelet aggregation, Neutrophil i... |
OMIM:155100 |
| Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Sensorineural hearing impairment, Thrombocytopenia, Impaired platelet aggregation, Macrothrombocy... |
OMIM:124900 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria |
OMIM:613090 |
| Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... |
ORPHA:231222 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Decreased nerve conduction velocity, Acute myelomonocytic leukem... |
OMIM:159550 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... |
ORPHA:90794 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... |
OMIM:610193 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... |
OMIM:607616 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Intention tremor, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia, Hypertrophic cardiomyopathy |
ORPHA:295 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Tricuspid regurgitation, Premature ventricular contraction, Mitral regurgitation, First degree at... |
OMIM:620066 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Ab... |
ORPHA:848 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Anisocytosis, Increased RBC distribution width, Schistocytosis, ... |
OMIM:613673 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Left ventricular outflow tract obstruction, Elevated circulating creat... |
ORPHA:365 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Sensorineural hearing impairment, Hypokalemia, Hyponatremia, Hypochloremia, Hyperchloriduria |
OMIM:602522 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Sensorineural hearing impairment, Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Ane... |
OMIM:616738 |
| Wt Limb-Blood Syndrome |
|
Sensorineural hearing impairment, Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytope... |
OMIM:194350 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Transaldolase Deficiency |
|
Telangiectasia, Abnormality of the clitoris, Hepatosplenomegaly, Abnormal circulating glutamine c... |
ORPHA:101028 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, M... |
OMIM:301080 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Dystonia, Thrombocytopenia |
OMIM:619302 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... |
OMIM:113900 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
| Forsythe-Wakeling Syndrome |
|
Low-set ears, Thrombocytopenia, Macrotia |
OMIM:613606 |
| Faciothoracogenital Syndrome |
|
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia |
OMIM:227320 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Megaloblastic anemia, Paroxysmal atrial tachycardia, Optic atro... |
ORPHA:49827 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia, Dystonia |
OMIM:610329 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hypomagnesemia, Hypokalemia, Abnormally large globe, Increased circulating renin level, Impaired ... |
OMIM:241200 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Sideroblastic anemia, Arrhythmia, Optic atrophy, Cryptorchidism... |
OMIM:249270 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Low-frequency sensorineural hearing impairment, Hem... |
OMIM:613101 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Athetosis, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sensorineural hearing impairment, Megaloblastic anemia, Abnormal autonomic nervous system physiol... |
OMIM:598500 |
| Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... |
ORPHA:3240 |
| Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Anemia, Leukopenia, Aplastic anem... |
ORPHA:811 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Epistaxis, Splenomegaly |
ORPHA:721 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia,... |
ORPHA:54057 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hyperammonemia, Optic atrophy, Choreoathetosis, Cardiomyopathy, Neutropenia, Anemia... |
ORPHA:79312 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Microtia, Persistence of hemoglobin F, Hypospadia... |
ORPHA:124 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Atresia of the external auditory canal, Neu... |
OMIM:612562 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt... |
OMIM:611590 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia, Leukopenia, Macrocytic anemia, Optic atrophy, Choreoathetosis, Anemia, Thrombocyt... |
ORPHA:27 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Optic disc pallor, Poikilo... |
OMIM:616959 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia, Hypertension, Raynaud phenomenon |
ORPHA:401945 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia |
OMIM:613094 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Microphthalmia |
OMIM:616570 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
| Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Dystonia, Thrombocytopenia |
OMIM:619301 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Optic atrophy, Choreoathetosis, Neutropenia, Anemia, Thrombocytopenia, Dystonia |
ORPHA:289916 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
| Immunodeficiency 96 |
|
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... |
OMIM:619774 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... |
OMIM:611777 |
| Congenital Toxoplasmosis |
|
Anemia, Hearing impairment, Thrombocytopenia, Microphthalmia |
ORPHA:858 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Hearing impairment, EEG abnormality, Thrombocytopenia |
OMIM:614946 |
| Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Hearing impairment, Thrombocytopenia, Microphthalmia |
OMIM:619981 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Ambiguous ... |
OMIM:250790 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Abcd Syndrome |
|
Polycythemia, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impair... |
OMIM:600501 |
| Preeclampsia |
|
Elevated systolic blood pressure, Elevated circulating creatinine concentration, Polycystic ovari... |
ORPHA:275555 |
| Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... |
ORPHA:97214 |
| Neonatal Lupus Erythematosus |
|
Neutropenia, Splenomegaly, Aplastic anemia, Arrhythmia, Hemolytic anemia, Abnormal electrophysiol... |
ORPHA:398124 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Intention tremor, Action tremor, Postural tremor, Thrombocytopenia |
OMIM:254900 |
| Pseudohypoaldosteronism, Type Iic |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia, Epistaxis |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia, Epistaxis |
OMIM:613554 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Microphthalmia |
ORPHA:1574 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Low-to-normal blood pressure, Hyp... |
OMIM:601678 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Abnormal autonomic nervous system phys... |
ORPHA:85451 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Epistaxis, Macrothrombocytopenia |
OMIM:616176 |
| Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141179 |
| Stt3B-Cdg |
|
Micropenis, Optic atrophy, Cryptorchidism, Thrombocytopenia, Small scrotum |
ORPHA:370924 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Gastroi... |
OMIM:231200 |
| Mmep Syndrome |
|
Cryptorchidism, Microphthalmia |
ORPHA:3434 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Microcytic anemia, Hypoalbuminemia, Microphthalmia, Reduced systolic func... |
OMIM:618805 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hearing impairment, Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Optic atrophy, Facial palsy, Thrombocytopenia |
OMIM:615085 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Bartter Syndrome Type 4 |
|
Protruding ear, Hypokalemia, Hypomagnesemia, Increased circulating renin level, Hyponatremia, Hyp... |
ORPHA:89938 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Optic atrophy, Cryptorchidism, Thrombocytopenia, Small scrotum |
OMIM:615597 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
| +173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Intracranial hemo... |
OMIM:173470 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... |
ORPHA:231226 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Choreoathetosis, Microphthalmia, Anophthalmia, Macrotia |
OMIM:221950 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Genital ulcers, Lymphopenia |
OMIM:616744 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141184 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... |
ORPHA:231214 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Anophthalmia, Bicornuate uterus, Microphthalmia |
OMIM:615524 |
| Congenital Rubella Syndrome |
|
Sensorineural hearing impairment, Splenomegaly, Thrombocytopenia, Microphthalmia, Anemia, Aplasia... |
ORPHA:290 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Hepatosplenomegaly, Pancytopenia, Low-set ears, Thrombocytopenia, Dystonia |
OMIM:610333 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Anemia, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor, Faci... |
OMIM:611490 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Low-set ears, Thrombocytopenia, Posteriorly rotated ears, Elevated circulating creatine kinase co... |
OMIM:614727 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Microphthalmia |
OMIM:278780 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis |
OMIM:314050 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Rhabdoid Tumor |
|
Internal hemorrhage, Hypercalcemia, Hypertension, Anemia, Thrombocytopenia |
ORPHA:69077 |
| Sengers Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy |
OMIM:212350 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Optic disc pallor, Microphthalmia |
OMIM:616171 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Developmental And Epileptic Encephalopathy 1 |
|
Micropenis, EEG with burst suppression, Choreoathetosis, Hypsarrhythmia, Microphthalmia, Dystonia |
OMIM:308350 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Babesiosis |
|
Splenomegaly, Leukopenia, Hemolytic anemia, Myocardial infarction, Thrombocytopenia, Congestive h... |
ORPHA:108 |
| Wolfram Syndrome 1 |
|
Sensorineural hearing impairment, Megaloblastic anemia, Testicular atrophy, Thrombocytopenia, Opt... |
OMIM:222300 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Microphthalmia, Hypospadias, Hypogonadism |
ORPHA:141333 |
| Nathalie Syndrome |
|
Hearing impairment, Abnormal EKG |
OMIM:255990 |
| Cofs Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Microphthalmia, Hypogonadism |
ORPHA:1466 |
| Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Thrombocytopenia |
ORPHA:3327 |
| Fechtner syndrome |
|
Neutrophil inclusion bodies, Leukocyte inclusion bodies, High-frequency sensorineural hearing imp... |
OMIM:153640 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intention tremor, Abnormality of peripheral nerve conduction, Hypogonadotropic hypogonadism, Micr... |
ORPHA:48431 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Thrombocytopenia, Congestive heart failure |
OMIM:619751 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis, Epi... |
OMIM:300367 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Pu... |
OMIM:614857 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hearing impairment, Bilateral microphthalmos |
OMIM:608763 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Ta... |
ORPHA:91547 |
| Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Slc35A1-Cdg |
|
Pulmonary hemorrhage, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Transient ischemic attack, Increased blood urea nitrogen, Schistocytosis, Tremor, Myocardial infa... |
OMIM:274150 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Low-set ears, Thrombocytopenia, Leukopenia |
OMIM:618116 |
| Pierpont Syndrome |
|
Uplifted earlobe, Microphthalmia, Cryptorchidism, Macrotia, Hearing impairment, Posteriorly rotat... |
ORPHA:487825 |
| Myh9-Related Disease |
|
Sensorineural hearing impairment, Neutrophil inclusion bodies, Congenital thrombocytopenia, Incre... |
ORPHA:182050 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Abnormal audi... |
ORPHA:529808 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Abnormal audi... |
ORPHA:529799 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |
| Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia, Congestive heart failure |
ORPHA:163596 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, Thrombocy... |
ORPHA:35858 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Hypokalemia, Abnormal T-wave, Abnormal autonomic nervous system physiology, S... |
ORPHA:101016 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612922 |
| Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia, Cryptorchidism, External genital hypoplasia, Optic atrophy, Macrotia, Low-set ears |
OMIM:600118 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612926 |
| Specific Granule Deficiency 2 |
|
Low-set ears, Abnormal pinna morphology, Thrombocytopenia, Simple ear, Neutropenia, Anemia, Absen... |
OMIM:617475 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
| Lig4 Syndrome |
|
Telangiectasia, Micropenis, Pancytopenia, Cryptorchidism, Thrombocytopenia |
OMIM:606593 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, Reticulocytop... |
ORPHA:88 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cryptorchidism, Microtia, Anemia, Hypospadias, Low-set, posteriorly rotated ears, Hearing impairm... |
OMIM:611209 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia |
OMIM:274270 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Pierpont Syndrome |
|
Large fleshy ears, Cryptorchidism, Micropenis, Microphthalmia, Hearing impairment, Posteriorly ro... |
OMIM:602342 |
| Congenital Fibrinogen Deficiency |
|
Opisthotonus, Micropenis, Hemorrhagic ovarian cyst, Tachycardia, Decreased testicular size, Micro... |
ORPHA:335 |
| Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ... |
ORPHA:507 |
| Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... |
OMIM:601154 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Hypsarrhythmia, Prolonged PR interval... |
ORPHA:542306 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612925 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hyponatremia, Th... |
ORPHA:83601 |
| Atrial Fibrillation, Familial, 14 |
|
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation |
OMIM:615378 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... |
OMIM:601399 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Increased blood urea nitrogen, Cryptorchidism, Anemia, Anoph... |
ORPHA:90321 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Leukopenia, Pulmonary arterial hypertension, Hyponatremia, Hyperuricemia, Anemia,... |
OMIM:613845 |
| Snakebite Envenomation |
|
Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, Myocardi... |
ORPHA:449285 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Hyperammonemia, Pancytopenia, Hyperglycinemia, Cardiomyopathy, Neutropenia... |
OMIM:606054 |
| Mirage Syndrome |
|
Lymphopenia, Hypergonadotropic hypogonadism, Hypospadias, Anemia, Leukopenia, Intracranial hemorr... |
OMIM:617053 |
| Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Thrombocytopenia |
OMIM:274240 |
| Atrial Septal Defect, Ostium Primum Type |
|
Congestive heart failure, Abnormal P wave, Fixed splitting of the second heart sound, Tricuspid r... |
ORPHA:99106 |
| 2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia |
ORPHA:1617 |
| Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Supravalvular aortic stenosis |
OMIM:618624 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin, Epistaxis |
ORPHA:90042 |
| Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
| Stormorken Syndrome |
|
Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Epistaxis, Asplenia... |
OMIM:185070 |
| Fanconi Anemia, Complementation Group E |
|
Neutropenia, Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Anemia, Thrombocytop... |
OMIM:600901 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Thrombocytopenia,... |
OMIM:603585 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Cerebellar hemorrhage, Hyperammonemia, Elevated... |
ORPHA:99901 |
| Omenn Syndrome |
|
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... |
OMIM:603554 |
| Xk Aprosencephaly Syndrome |
|
Abnormal external genitalia, Microphthalmia |
ORPHA:3469 |
| Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leu... |
OMIM:214500 |
| Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Opisthotonus |
OMIM:250800 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Extramedullary hematopoiesis, Hepatosplenomegaly, Facial paralysis, Op... |
OMIM:259710 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia, Pericarditis |
OMIM:152700 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:603909 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Microphthalmia, External genital hypoplasia, Hypogonadism |
ORPHA:363741 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia, Ane... |
OMIM:608104 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Hearing impairment, Microphthalmia |
OMIM:610023 |
| Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Hypotension, Thromb... |
ORPHA:98850 |
| Microphthalmia, Syndromic 13 |
|
Abnormal pinna morphology, Anteverted ears, Microphthalmia |
OMIM:300915 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Limb dystonia, Athetosis |
ORPHA:621 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
EEG abnormality, Optic nerve hypoplasia, Pseudopapilledema, Unilateral microphthalmos, Optic disc... |
ORPHA:137902 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis, Cerebral hemorrhage |
ORPHA:3002 |
| Zika Virus Disease |
|
Myelitis, Thrombocytopenia, Optic disc hypoplasia, Abnormal optic disc morphology, Transient hear... |
ORPHA:448237 |
| Fanconi Anemia, Complementation Group A |
|
Neutropenia, Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism, Anemia, Thrombocytop... |
OMIM:227650 |
| Isovaleric Acidemia |
|
Leukopenia, Thrombocytopenia, Cerebellar hemorrhage, Pancytopenia |
OMIM:243500 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Hypoplasia of the iris |
OMIM:612783 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia, Low-set, posteriorly rotated ears |
ORPHA:1237 |
| Neuroleptic Malignant Syndrome |
|
Tremor, Hyperuricemia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tac... |
ORPHA:94093 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Anemia, Thrombocytopenia, Abnormal lymphocyte morphology |
ORPHA:229717 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In... |
OMIM:267700 |
| Von Hippel-Lindau Syndrome |
|
Sensorineural hearing impairment, Polycythemia, Papillary cystadenoma of the epididymis, Tinnitus... |
OMIM:193300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Papilledema, Elevated circulating creatine kinase concentration, Bra... |
OMIM:618775 |
| Methylmalonic Aciduria, Cbla Type |
|
Hyperammonemia, Pancytopenia, Tremor, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemi... |
OMIM:251100 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Bresek Syndrome |
|
Low-set ears, Protruding ear, Cryptorchidism, Optic nerve hypoplasia, Decreased testicular size, ... |
ORPHA:85284 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
| Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Myocarditis, Abnormal macrophage morphology, Hypotensio... |
ORPHA:292 |
| Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Myoclonic-Astatic Epilepsy |
|
EEG with focal spike waves, EEG with polyspike wave complexes, EEG with irregular generalized spi... |
ORPHA:1942 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hypertension, Pancy... |
OMIM:230800 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Leukemia, Microphthalmia |
OMIM:602501 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Syncope |
ORPHA:464453 |
| Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Sensorineural hearing impairment, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intrac... |
ORPHA:3226 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Sensorineural hearing impairment, EEG abnormality, Thrombocytopenia |
OMIM:616577 |
| Vexas Syndrome |
|
Sensorineural hearing impairment, Elevated circulating C-reactive protein concentration, Macrocyt... |
OMIM:301054 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Low-set, posteriorly rotated ears, Microcytic anemia, HbH hemoglobin, Cryptorchidism... |
ORPHA:98791 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Splenomegaly, Anemia, Facial palsy, Facial paralysis, Optic atrophy, Pancytopenia, ... |
OMIM:259700 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... |
ORPHA:1215 |
| Dengue Fever |
|
Cerebral hemorrhage, Hypoproteinemia, Leukopenia, Hypotension, Gastrointestinal hemorrhage, Throm... |
ORPHA:99828 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia, Portal hypert... |
ORPHA:210136 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Macrotia |
OMIM:600776 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neutr... |
OMIM:251000 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cerebral hemorrhage, Leukocytosis, Congenital throm... |
OMIM:618886 |
| Keratoderma Hereditarium Mutilans |
|
Sensorineural hearing impairment, Hypogonadotropic hypogonadism, Hearing impairment, Abnormality ... |
ORPHA:494 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Shock, Internal h... |
ORPHA:49566 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormality of the spinal cord, Abnormal autonomic ner... |
ORPHA:139578 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Athetosis, Optic atrophy, Tremor, Cardiomyopathy, Thrombocytopenia, Dystonia |
OMIM:617710 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Rieger anomaly, Abnormal auditory evoked potentials |
OMIM:109120 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, In... |
ORPHA:99027 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Large earlobe, Low-set ears, Abnormal left ventricular function, Cryptorchidism, Micropenis, Pulm... |
OMIM:301056 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Cat-Eye Syndrome |
|
Hearing impairment, Microphthalmia |
ORPHA:195 |
| Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Portal hypertension, Gastrointesti... |
ORPHA:64743 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Sensorineural hearing impairment, Optic atrophy, Microphthalmia |
ORPHA:1473 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Neutropenia, Microtia, Hyperhomocystinemia, Cystathioninemia, Methylmalonic... |
OMIM:277380 |
| Neurooculocardiogenitourinary Syndrome |
|
Sensorineural hearing impairment, Tricuspid regurgitation, Microphthalmia, Low-set ears, Bilatera... |
OMIM:618652 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Restric... |
ORPHA:160 |
| Lissencephaly 8 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Microphthalmia |
OMIM:617255 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Sensorineural hearing impairment, Hand tremor, Optic atrophy, Postural tremor, Abnormality of the... |
ORPHA:99947 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Tularemia |
|
Anemia, Thrombocytopenia, Tachycardia, Leukocytosis |
ORPHA:3392 |
| Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Impaired ADP-induced platelet aggregation, Absent platelet dense granule... |
OMIM:614074 |
| Fanconi Anemia, Complementation Group F |
|
Conductive hearing impairment, Cryptorchidism, Microtia, Leukopenia, Microphthalmia, Anemia, Thro... |
OMIM:603467 |
| Fanconi Anemia, Complementation Group S |
|
Anemia, Ovarian neoplasm, Microphthalmia |
OMIM:617883 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Low-set ears, Microphthalmia |
ORPHA:93267 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Optic atrophy, Low-set ears, Microcytic anemia, Microphthalmia |
OMIM:612379 |
| Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... |
OMIM:139090 |
| Meckel Syndrome, Type 8 |
|
Low-set ears, Anophthalmia, Microphthalmia |
OMIM:613885 |
| Transaldolase Deficiency |
|
Telangiectasia, Low-set ears, Splenomegaly, Hepatosplenomegaly, Clitoral hypertrophy, Pancytopeni... |
OMIM:606003 |
| Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... |
OMIM:619644 |
| Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Microphthalmia |
OMIM:601349 |
| Fetal Gaucher Disease |
|
