Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Iron-Refractory Iron Deficiency Anemia |
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Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Acute Peripheral Arterial Occlusion |
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Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Congenital Heart Block |
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First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Partial Atrioventricular Septal Defect |
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Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... |
ORPHA:1330 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Poikilo... |
ORPHA:98870 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
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Short stature, Pallor |
ORPHA:2786 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Short stature, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Pallor |
ORPHA:49827 |
Hb Bart'S Hydrops Fetalis |
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Congestive heart failure, Pericarditis, Hydrocephalus, Pallor |
ORPHA:163596 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Rh Deficiency Syndrome |
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Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Dermatitis, Atopic |
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Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
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Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Benign Paroxysmal Torticollis Of Infancy |
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Pallor |
ORPHA:71518 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
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Growth delay, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Breath-Holding Spells |
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Pallor |
OMIM:607578 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Orotic Aciduria |
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Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Cyclic Vomiting Syndrome |
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Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Leber Congenital Amaurosis 14 |
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Pallor |
OMIM:613341 |
Evans Syndrome |
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Pallor, Syncope, Epistaxis, Petechiae |
ORPHA:1959 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
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Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Non-Functioning Paraganglioma |
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Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Spontaneous Periodic Hypothermia |
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Arrhythmia, Pallor |
ORPHA:29822 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Tachycardia, Pallor |
ORPHA:276608 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Hyperinsulinism Due To Hnf1A Deficiency |
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Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Laterality Defects, Autosomal Dominant |
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Situs inversus totalis, Heterotaxy, Asplenia |
OMIM:601086 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia |
ORPHA:3099 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Double Outlet Right Ventricle |
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Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Heterotaxy, ... |
ORPHA:3426 |
Idiopathic Pulmonary Hemosiderosis |
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Pallor, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
Peripartum Cardiomyopathy |
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Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Short stature, Pallor |
OMIM:611590 |
Heterotaxy, Visceral, 7, Autosomal |
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Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Primary Myelofibrosis |
|
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Autoimmune Hemolytic Anemia, Warm Type |
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Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
Mixed-Type Autoimmune Hemolytic Anemia |
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Tachycardia, Pallor |
ORPHA:90036 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Pallor |
ORPHA:3226 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Pallor |
OMIM:609053 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Acquired Idiopathic Sideroblastic Anemia |
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Congestive heart failure, Pallor |
ORPHA:75564 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Attrv122I Amyloidosis |
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Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Heterotaxy, Polysplenia |
OMIM:613807 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Renpenning Syndrome |
|
Heterotaxy |
ORPHA:3242 |
Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Atrioventricular canal defect, ... |
OMIM:618300 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,... |
ORPHA:33226 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Hereditary Spherocytosis |
|
Growth delay, Restrictive cardiomyopathy, Pallor, Skin ulcer |
ORPHA:822 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Isomerism, Transposition of the great arteries, Neonatal death, Atri... |
OMIM:314390 |
Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer |
ORPHA:231222 |
Sepsis In Premature Infants |
|
Tachycardia, Pallor, Bradycardia, Hypotension, Petechiae, Purpura |
ORPHA:90051 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Growth delay, Anemic pallor |
ORPHA:329971 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Growth delay, Pallor, D... |
ORPHA:231214 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Pallor, Hypotension |
ORPHA:134 |
Refractory Anemia With Excess Blasts |
|
Palpitations, Anemic pallor, Retinal hemorrhage |
ORPHA:86839 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteriosus, Partial anomalous pu... |
OMIM:619657 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Diamond-Blackfan Anemia 1 |
|
Short stature, Tricuspid stenosis, Congestive heart failure, Pallor, Intrauterine growth retardat... |
OMIM:105650 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Pallor, Hypotension |
ORPHA:98849 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor, Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Pallor |
ORPHA:35858 |
Sheehan Syndrome |
|
Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Pituitary Apoplexy |
|
Hypertension, Pallor, Hypotension |
ORPHA:95613 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Prolactinoma |
|
Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Hypotension |
ORPHA:91349 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Incontinentia Pigmenti |
|
Pallor, Erythema, Short stature, Retinal hemorrhage |
OMIM:308300 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... |
ORPHA:91347 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Pulmonary arterial hypertension, Hydrocephalus, Pallor |
ORPHA:667 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus totalis, Patent foramen o... |
OMIM:619702 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Anemic pallor, Short stature |
OMIM:227645 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Heterotaxy, Ventricular septal defect |
OMIM:618846 |
Degcags Syndrome |
|
Tachycardia, Pulmonary arterial hypertension, Pallor, Pulmonic stenosis, Intrauterine growth reta... |
OMIM:619488 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hypertension, Pallor, Hypertensive crisis |
ORPHA:544482 |
Esophageal Atresia |
|
Growth delay, Pallor |
ORPHA:1199 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature |
OMIM:600901 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Anemic pallor, Short stature |
OMIM:227646 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature |
OMIM:227650 |
Diamond-Blackfan Anemia |
|
Growth delay, Short stature, Pallor |
ORPHA:124 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |